LOCUS NP_001355814 651 aa linear PRI 07-MAR-2019 DEFINITION collagen alpha-1(XIII) chain isoform 26 [Homo sapiens]. ACCESSION NP_001355814 XP_016871181 VERSION NP_001355814.1 DBSOURCE REFSEQ: accession NM_001368885.1 KEYWORDS RefSeq. SOURCE Homo 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 Larrieta-Carrasco E, Flores YN, Macias-Kauffer LR, Ramirez-Palacios P, Quiterio M, Ramirez-Salazar EG, Leon-Mimila P, Rivera-Paredez B, Cabrera-Alvarez G, Canizales-Quinteros S, Zhang ZF, Lopez-Perez TV, Salmeron J and Velazquez-Cruz R. TITLE Genetic variants in COL13A1, ADIPOQ and SAMM50, in addition to the PNPLA3 gene, confer susceptibility to elevated transaminase levels in an admixed Mexican population JOURNAL Exp. Mol. Pathol. 104 (1), 50-58 (2018) PUBMED 29307798 REMARK GeneRIF: Findings suggest a significant association between variants in COL13A1, ADIPOQ, SAMM50, and PNPLA3, and risk of NAFLD/elevated transaminase levels in Mexican adults with an admixed ancestry. REFERENCE 2 (residues 1 to 651) AUTHORS Miyake M, Morizawa Y, Hori S, Tatsumi Y, Onishi S, Owari T, Iida K, Onishi K, Gotoh D, Nakai Y, Anai S, Chihara Y, Torimoto K, Aoki K, Tanaka N, Shimada K, Konishi N and Fujimoto K. TITLE Diagnostic and prognostic role of urinary collagens in primary human bladder cancer JOURNAL Cancer Sci. 108 (11), 2221-2228 (2017) PUBMED 28837258 REMARK GeneRIF: Urine levels of COL4A1, COL13A1, the combined values of COL4A1 and COL13A1 (COL4A1 + COL13A1), and CYFRA21-1 were significantly elevated in urine from patients with BCa compared to the controls. A high urinary COL4A1 + COL13A1 was found to be an independent risk factor for intravesical recurrence. REFERENCE 3 (residues 1 to 651) AUTHORS Karimov,D.D., Erdman,V.V., Nasibullin,T.R., Tuktarova,I.A., Somova,R.S., Timasheva,Y.R. and Mustafina,O.E. TITLE [Alu insertion-deletion polymorphism of COL13A1 and LAMA2 genes: The analysis of association with longevity] JOURNAL Genetika 52 (10), 1185-1193 (2016) PUBMED 29369589 REMARK GeneRIF: It was established that the frequency of individuals with the COL13A1*D/*D genotype was higher in the senile age period. The LAMA2*I/*D genotype was predisposing to longevity among women. REFERENCE 4 (residues 1 to 651) AUTHORS Abicht,A., Muller,J. S and Lochmuller,H. TITLE Congenital Myasthenic Syndromes JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K and Amemiya A (Eds.); GENEREVIEWS((R)); (1993) PUBMED 20301347 REFERENCE 5 (residues 1 to 651) AUTHORS Juvonen M, Sandberg M and Pihlajaniemi T. TITLE Patterns of expression of the six alternatively spliced exons affecting the structures of the COL1 and NC2 domains of the alpha 1(XIII) collagen chain in human tissues and cell lines JOURNAL J. Biol. Chem. 267 (34), 24700-24707 (1992) PUBMED 1447210 REFERENCE 6 (residues 1 to 651) AUTHORS Juvonen M and Pihlajaniemi T. TITLE Characterization of the spectrum of alternative splicing of alpha 1 (XIII) collagen transcripts in HT-1080 cells and calvarial tissue resulted in identification of two previously unidentified alternatively spliced sequences, one previously unidentified exon, and nine new mRNA variants JOURNAL J. Biol. Chem. 267 (34), 24693-24699 (1992) PUBMED 1447209 REFERENCE 7 (residues 1 to 651) AUTHORS Tikka L, Elomaa O, Pihlajaniemi T and Tryggvason K. TITLE Human alpha 1 (XIII) collagen gene. Multiple forms of the gene transcripts are generated through complex alternative splicing of several short exons JOURNAL J. Biol. Chem. 266 (26), 17713-17719 (1991) PUBMED 1894651 REFERENCE 8 (residues 1 to 651) AUTHORS Pihlajaniemi T and Tamminen M. TITLE The alpha 1 chain of type XIII collagen consists of three collagenous and four noncollagenous domains, and its primary transcript undergoes complex alternative splicing JOURNAL J. Biol. Chem. 265 (28), 16922-16928 (1990) PUBMED 1698771 REFERENCE 9 (residues 1 to 651) AUTHORS Shows TB, Tikka L, Byers MG, Eddy RL, Haley LL, Henry WM, Prockop DJ and Tryggvason K. TITLE Assignment of the human collagen alpha 1 (XIII) chain gene (COL13A1) to the q22 region of chromosome 10 JOURNAL Genomics 5 (1), 128-133 (1989) PUBMED 2767682 REFERENCE 10 (residues 1 to 651) AUTHORS Tikka L, Pihlajaniemi T, Henttu P, Prockop DJ and Tryggvason K. TITLE Gene structure for the alpha 1 chain of a human short-chain collagen (type XIII) with alternatively spliced transcripts and translation termination codon at the 5' end of the last exon JOURNAL Proc. Natl. Acad. Sci. U.S.A. 85 (20), 7491-7495 (1988) PUBMED 2459707 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC025426.11, AL138925.17 and AC024601.9. On Mar 7, 2019 this sequence version replaced XP_016871181.1. Summary: This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them 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 :: SRR1803617.233624.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..651 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10q22.1" Protein 1..651 /product="collagen alpha-1(XIII) chain isoform 26" /note="collagen alpha-1(XIII) chain; collagen, type XIII, alpha 1" /calculated_mol_wt=63606 Region 293..355 /region_name="Collagen" /note="Collagen triple helix repeat (20 copies); pfam01391" /db_xref="CDD:189968" Region 520..578 /region_name="Collagen" /note="Collagen triple helix repeat (20 copies); pfam01391" /db_xref="CDD:189968" Region 571..628 /region_name="Collagen" /note="Collagen triple helix repeat (20 copies); pfam01391" /db_xref="CDD:189968" CDS 1..651 /gene="COL13A1" /gene_synonym="CMS19; COLXIIIA1" /coded_by="NM_001368885.1:519..2474" /note="isoform 26 is encoded by transcript variant 26" /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 glpgvkgqpg ekgspgdagl siigprgppg qpgtrgfpgf pgpigldgkp 181 ghpgpkgdmg ltgppgqpgp qgqkgekgqc geyphrllpl lnsvrlappp vikrrtfqge 241 qsqasiqgpp gppgppgpsg plghpglpgp mgppglpgpp gpkgdpgiqg yhgrkgergm 301 pgmpgkhgak gapgiavagm kgepgipgtk gekgaegspg lpgllgqkge kgdagnsigg 361 grgepgppgl pgppgpkgea gvdgqvgppg qpgdkgerga ageqgpdgpk gskgepgkge 421 mvdyngnine alqeirtlal mgppglpgqi gppgapgipg qkgeiglpgp pghdgekgpr 481 gkpgdmgppg pqgppgkdgp pgvkgenghp gspgekgekg etgqagspgl qgvpgpkgea 541 gldgakgekg fqgekgdrgp lglpgtpgpi gvpgpagpkg ergskgdpgm tgptgaaglp 601 glhgppgdkg nrghrgfkge kgepglpgld gldapcplge dglpvqgcwn k // LOCUS NP_001355815 477 aa linear PRI 07-MAR-2019 DEFINITION collagen alpha-1(XIII) chain isoform 27 [Homo sapiens]. ACCESSION NP_001355815 XP_016871186 VERSION NP_001355815.1 DBSOURCE REFSEQ: accession NM_001368886.1 KEYWORDS RefSeq. SOURCE Homo 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 Larrieta-Carrasco E, Flores YN, Macias-Kauffer LR, Ramirez-Palacios P, Quiterio M, Ramirez-Salazar EG, Leon-Mimila P, Rivera-Paredez B, Cabrera-Alvarez G, Canizales-Quinteros S, Zhang ZF, Lopez-Perez TV, Salmeron J and Velazquez-Cruz R. TITLE Genetic variants in COL13A1, ADIPOQ and SAMM50, in addition to the PNPLA3 gene, confer susceptibility to elevated transaminase levels in an admixed Mexican population JOURNAL Exp. Mol. Pathol. 104 (1), 50-58 (2018) PUBMED 29307798 REMARK GeneRIF: Findings suggest a significant association between variants in COL13A1, ADIPOQ, SAMM50, and PNPLA3, and risk of NAFLD/elevated transaminase levels in Mexican adults with an admixed ancestry. REFERENCE 2 (residues 1 to 477) AUTHORS Miyake M, Morizawa Y, Hori S, Tatsumi Y, Onishi S, Owari T, Iida K, Onishi K, Gotoh D, Nakai Y, Anai S, Chihara Y, Torimoto K, Aoki K, Tanaka N, Shimada K, Konishi N and Fujimoto K. TITLE Diagnostic and prognostic role of urinary collagens in primary human bladder cancer JOURNAL Cancer Sci. 108 (11), 2221-2228 (2017) PUBMED 28837258 REMARK GeneRIF: Urine levels of COL4A1, COL13A1, the combined values of COL4A1 and COL13A1 (COL4A1 + COL13A1), and CYFRA21-1 were significantly elevated in urine from patients with BCa compared to the controls. A high urinary COL4A1 + COL13A1 was found to be an independent risk factor for intravesical recurrence. REFERENCE 3 (residues 1 to 477) AUTHORS Karimov,D.D., Erdman,V.V., Nasibullin,T.R., Tuktarova,I.A., Somova,R.S., Timasheva,Y.R. and Mustafina,O.E. TITLE [Alu insertion-deletion polymorphism of COL13A1 and LAMA2 genes: The analysis of association with longevity] JOURNAL Genetika 52 (10), 1185-1193 (2016) PUBMED 29369589 REMARK GeneRIF: It was established that the frequency of individuals with the COL13A1*D/*D genotype was higher in the senile age period. The LAMA2*I/*D genotype was predisposing to longevity among women. REFERENCE 4 (residues 1 to 477) AUTHORS Abicht,A., Muller,J. S and Lochmuller,H. TITLE Congenital Myasthenic Syndromes JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K and Amemiya A (Eds.); GENEREVIEWS((R)); (1993) PUBMED 20301347 REFERENCE 5 (residues 1 to 477) AUTHORS Juvonen M, Sandberg M and Pihlajaniemi T. TITLE Patterns of expression of the six alternatively spliced exons affecting the structures of the COL1 and NC2 domains of the alpha 1(XIII) collagen chain in human tissues and cell lines JOURNAL J. Biol. Chem. 267 (34), 24700-24707 (1992) PUBMED 1447210 REFERENCE 6 (residues 1 to 477) AUTHORS Juvonen M and Pihlajaniemi T. TITLE Characterization of the spectrum of alternative splicing of alpha 1 (XIII) collagen transcripts in HT-1080 cells and calvarial tissue resulted in identification of two previously unidentified alternatively spliced sequences, one previously unidentified exon, and nine new mRNA variants JOURNAL J. Biol. Chem. 267 (34), 24693-24699 (1992) PUBMED 1447209 REFERENCE 7 (residues 1 to 477) AUTHORS Tikka L, Elomaa O, Pihlajaniemi T and Tryggvason K. TITLE Human alpha 1 (XIII) collagen gene. Multiple forms of the gene transcripts are generated through complex alternative splicing of several short exons JOURNAL J. Biol. Chem. 266 (26), 17713-17719 (1991) PUBMED 1894651 REFERENCE 8 (residues 1 to 477) AUTHORS Pihlajaniemi T and Tamminen M. TITLE The alpha 1 chain of type XIII collagen consists of three collagenous and four noncollagenous domains, and its primary transcript undergoes complex alternative splicing JOURNAL J. Biol. Chem. 265 (28), 16922-16928 (1990) PUBMED 1698771 REFERENCE 9 (residues 1 to 477) AUTHORS Shows TB, Tikka L, Byers MG, Eddy RL, Haley LL, Henry WM, Prockop DJ and Tryggvason K. TITLE Assignment of the human collagen alpha 1 (XIII) chain gene (COL13A1) to the q22 region of chromosome 10 JOURNAL Genomics 5 (1), 128-133 (1989) PUBMED 2767682 REFERENCE 10 (residues 1 to 477) AUTHORS Tikka L, Pihlajaniemi T, Henttu P, Prockop DJ and Tryggvason K. TITLE Gene structure for the alpha 1 chain of a human short-chain collagen (type XIII) with alternatively spliced transcripts and translation termination codon at the 5' end of the last exon JOURNAL Proc. Natl. Acad. Sci. U.S.A. 85 (20), 7491-7495 (1988) PUBMED 2459707 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC025426.11, AL138925.17 and AC024601.9. On Mar 7, 2019 this sequence version replaced XP_016871186.1. Summary: This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them 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 :: SRR1660803.171214.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..477 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10q22.1" Protein 1..477 /product="collagen alpha-1(XIII) chain isoform 27" /note="collagen alpha-1(XIII) chain; collagen, type XIII, alpha 1" /calculated_mol_wt=45683 Region 105..167 /region_name="Collagen" /note="Collagen triple helix repeat (20 copies); pfam01391" /db_xref="CDD:189968" Region 361..414 /region_name="Collagen" /note="Collagen triple helix repeat (20 copies); pfam01391" /db_xref="CDD:189968" Region 397..454 /region_name="Collagen" /note="Collagen triple helix repeat (20 copies); pfam01391" /db_xref="CDD:189968" CDS 1..477 /gene="COL13A1" /gene_synonym="CMS19; COLXIIIA1" /coded_by="NM_001368886.1:1172..2605" /note="isoform 27 is encoded by transcript variant 27" /db_xref="GeneID:1305" /db_xref="HGNC:HGNC:2190" /db_xref="MIM:120350" ORIGIN 1 mgltgppgqp gpqgqkgekg qcgeyphrll pllnsvrlap ppvikrrtfq geqsqasiqg 61 ppgppgppgp sgplghpglp gpmgppglpg ppgpkgdpgi qgyhgrkger gmpgmpgkhg 121 akgapgiava gmkgepgipg tkgekgaegs pglpgllgqk gekgdagnsi gggrgepgpp 181 glpgppgpkg eagvdgqvgp pgqpgdkger gaageqgpdg pkgskgepgk gemvdyngni 241 nealqeirtl almgppglpg qigppgapgi pgqkgeiglp gppghdgekg prgkpgdmgp 301 pgpqgppgkd gppgvkgeng hpgspgekge kgetgqagsp vpglpgpegp pgppglqgvp 361 gpkgeagldg akgekgfqge kgdrgplglp gtpgpigvpg pagpkgergs kgdpgmtgpt 421 gaaglpglhg ppgdkgnrgh rgfkgekgep glpgldglda pcplgedglp vqgcwnk // LOCUS NP_001361386 1614 aa linear PRI 28-SEP-2019 DEFINITION transcription activator BRG1 isoform E [Homo sapiens]. ACCESSION NP_001361386 VERSION NP_001361386.1 DBSOURCE REFSEQ: accession NM_001374457.1 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 1614) AUTHORS Bi R, Yu L, Tu XY, Ge HJ, Cheng YF, Chang B, Cai X, Jiang WH and Yang WT. TITLE [Expression of SMARCA4(BRG1) and SMARCB1(INI1) in dedifferentiated and undifferentiated endometrial carcinomas and their correlations with clinicopathological features] JOURNAL Zhonghua Bing Li Xue Za Zhi 48 (8), 590-595 (2019) PUBMED 31422588 REMARK GeneRIF: BRG1 and INI1 loss were present in 14 of 26 cases of DDC/UDC, including 12 BRG1-deficient cases and 2 INI1-deficient cases, respectively REFERENCE 2 (residues 1 to 1614) AUTHORS Schneppenheim R, Fruhwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, Oyen F, Vater I and Siebert R. TITLE Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome JOURNAL Am. J. Hum. Genet. 86 (2), 279-284 (2010) PUBMED 20137775 REMARK GeneRIF: SMARCA4 is involved in cancer predisposition REFERENCE 3 (residues 1 to 1614) AUTHORS Wong AK, Shanahan F, Chen Y, Lian L, Ha P, Hendricks K, Ghaffari S, Iliev D, Penn B, Woodland AM, Smith R, Salada G, Carillo A, Laity K, Gupte J, Swedlund B, Tavtigian SV, Teng DH and Lees E. TITLE BRG1, a component of the SWI-SNF complex, is mutated in multiple human tumor cell lines JOURNAL Cancer Res. 60 (21), 6171-6177 (2000) PUBMED 11085541 REFERENCE 4 (residues 1 to 1614) AUTHORS Muchardt C, Reyes JC, Bourachot B, Leguoy E and Yaniv M. TITLE The hbrm and BRG-1 proteins, components of the human SNF/SWI complex, are phosphorylated and excluded from the condensed chromosomes during mitosis JOURNAL EMBO J. 15 (13), 3394-3402 (1996) PUBMED 8670841 REFERENCE 5 (residues 1 to 1614) AUTHORS Muchardt C, Sardet C, Bourachot B, Onufryk C and Yaniv M. TITLE A human protein with homology to Saccharomyces cerevisiae SNF5 interacts with the potential helicase hbrm JOURNAL Nucleic Acids Res. 23 (7), 1127-1132 (1995) PUBMED 7739891 REFERENCE 6 (residues 1 to 1614) 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 7 (residues 1 to 1614) AUTHORS Khavari PA, Peterson CL, Tamkun JW, Mendel DB and Crabtree GR. TITLE BRG1 contains a conserved domain of the SWI2/SNF2 family necessary for normal mitotic growth and transcription JOURNAL Nature 366 (6451), 170-174 (1993) PUBMED 8232556 REFERENCE 8 (residues 1 to 1614) AUTHORS Nemes,K., Bens,S., Bourdeaut,F., Hasselblatt,M., Kool,M., Johann,P., Kordes,U., Schneppenheim,R., Siebert,R. and Fruhwald,M.C. TITLE Rhabdoid Tumor Predisposition Syndrome JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K and Amemiya A (Eds.); GENEREVIEWS((R)); (1993) PUBMED 29215836 REFERENCE 9 (residues 1 to 1614) AUTHORS Schrier Vergano,S., Santen,G., Wieczorek,D., Wollnik,B., Matsumoto,N. and Deardorff,M.A. TITLE Coffin-Siris Syndrome JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K and Amemiya A (Eds.); GENEREVIEWS((R)); (1993) PUBMED 23556151 REFERENCE 10 (residues 1 to 1614) AUTHORS Longoni,M., Pober,B.R. and High,F.A. TITLE Congenital Diaphragmatic Hernia Overview JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K 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 AC011442.5, AC006127.1 and AC011485.6. Summary: The protein encoded by this gene is a member of the SWI/SNF family of proteins and is 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. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [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## CDS exon combination :: EU430759.1, SRR7346977.2857897.1 [ECO:0000331] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1614 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.2" Protein 1..1614 /product="transcription activator BRG1 isoform E" /note="sucrose nonfermenting-like 4; mitotic growth and transcription activator; BRM/SWI2-related gene 1; homeotic gene regulator; nuclear protein GRB1; brahma protein-like 1; SNF2-like 4; global transcription activator homologous sequence; transcription activator BRG1; ATP-dependent helicase SMARCA4; protein BRG-1; protein brahma homolog 1; BRG1-associated factor 190A; SNF2-beta" /calculated_mol_wt=181218 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:370169" Region <370..>552 /region_name="Smc" /note="Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]; COG1196" /db_xref="CDD:224117" Region 461..531 /region_name="HSA" /note="pfam07529" /db_xref="CDD:369406" 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" Site 881..884 /site_type="other" /note="DEAD box helicase motif" /db_xref="CDD:350820" Region 1291..1356 /region_name="SnAC" /note="Snf2-ATP coupling, chromatin remodelling complex; pfam14619" /db_xref="CDD:373166" Region 1425..1531 /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(1456,1461,1464,1503,1507,1513) /site_type="other" /note="acetyllysine binding site" /db_xref="CDD:99947" CDS 1..1614 /gene="SMARCA4" /gene_synonym="BAF190; BAF190A; BRG1; CSS4; hSNF2b; MRD16; RTPS2; SNF2; SNF2L4; SNF2LB; SWI2" /coded_by="NM_001374457.1:174..5018" /note="isoform E is encoded by transcript variant 8" /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 tekqwlkaie egtleeieee vrqkkssrkr 1381 krdsdagsst pttstrsrdk ddeskkqkkr grppaeklsp nppnltkkmk kivdavikyk 1441 dsssgrqlse vfiqlpsrke lpeyyelirk pvdfkkiker irnhkyrsln dlekdvmllc 1501 qnaqtfnleg sliyedsivl qsvftsvrqk iekeddsege eseeeeegee egsesesrsv 1561 kvkiklgrke kaqdrlkggr rrpsrgsrak pvvsdddsee eqeedrsgsg seed // LOCUS NP_671494 1249 aa linear PRI 12-MAY-2020 DEFINITION intersectin-2 isoform 2 [Homo sapiens]. ACCESSION NP_671494 VERSION NP_671494.2 DBSOURCE REFSEQ: accession NM_147152.3 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 1249) 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 2 (residues 1 to 1249) 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 3 (residues 1 to 1249) 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 4 (residues 1 to 1249) 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 1249) AUTHORS Novokhatska O, Dergai M, Tsyba L, Skrypkina I, Filonenko V, Moreau J and Rynditch A. TITLE Adaptor proteins intersectin 1 and 2 bind similar proline-rich ligands but are differentially recognized by SH2 domain-containing proteins JOURNAL PLoS ONE 8 (7), e70546 (2013) PUBMED 23936226 REMARK GeneRIF: ITSN1 and ITSN2 bind similar proline-rich ligands but are differentially recognized by SH2 domain-containing proteins. Publication Status: Online-Only REFERENCE 6 (residues 1 to 1249) 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 1249) 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 1249) 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 1249) 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 1249) 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, DA382952.1, AF182199.1 and AF038189.1. On Jul 17, 2008 this sequence version replaced NP_671494.1. 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]. Transcript Variant: This variant (2), also known as ITSN2-S1, has an alternate 3' coding region and 3' UTR 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 :: AF182199.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1249 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2p23.3" Protein 1..1249 /product="intersectin-2 isoform 2" /note="SH3 domain-containing protein 1B; SH3P18-like WASP-associated protein" /calculated_mol_wt=141689 Region 15..107 /region_name="EH" /note="Eps15 homology domain; smart00027" /db_xref="CDD:197477" Region 27..91 /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(32..34,40..44) /site_type="other" /note="pseudo EF-hand loop" /db_xref="CDD:238009" Site order(49,59,63) /site_type="other" /note="peptide binding pocket" /db_xref="CDD:238009" Site order(67,69,71,78) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238009" Site 110 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q9NZM3.3)" Site 210 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:19690332, ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q9NZM3.3)" Site 230 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:20068231; propagated from UniProtKB/Swiss-Prot (Q9NZM3.3)" Region 248..314 /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" Region 249..306 /region_name="EF-hand_7" /note="EF-hand domain pair; pfam13499" /db_xref="CDD:290234" Site order(254..256,263..267) /site_type="other" /note="pseudo EF-hand loop" /db_xref="CDD:238009" Site order(272,282,286) /site_type="other" /note="peptide binding pocket" /db_xref="CDD:238009" Site order(290,292,294,301) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238009" Region <379..484 /region_name="GBP_C" /note="Guanylate-binding protein, C-terminal domain; cl20817" /db_xref="CDD:303769" Region 387..741 /region_name="TPH" /note="Trichohyalin-plectin-homology domain; pfam13868" /db_xref="CDD:290579" Region 454..465 /region_name="coiled coil" /note="coiled coil [structural motif]" /db_xref="CDD:293879" Region 474..484 /region_name="coiled coil" /note="coiled coil [structural motif]" /db_xref="CDD:293879" Site 553 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0000250|UniProtKB:Q9Z0R6; propagated from UniProtKB/Swiss-Prot (Q9NZM3.3)" Site 573 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q9NZM3.3)" Region 692..>757 /region_name="Peptidase_S49_N" /note="Peptidase family S49 N-terminal; pfam08496" /db_xref="CDD:285669" Region 759..815 /region_name="SH3_Intersectin2_1" /note="First Src homology 3 domain (or SH3A) of Intersectin-2; cd11988" /db_xref="CDD:212921" Site order(766,768,771,775,795..796,809,811..812) /site_type="other" /note="peptide ligand binding site [polypeptide binding]" /db_xref="CDD:212921" Region 815..902 /region_name="INTAP" /note="Intersectin and clathrin adaptor AP2 binding region; pfam16617" /db_xref="CDD:293223" Site 882 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9Z0R6; propagated from UniProtKB/Swiss-Prot (Q9NZM3.3)" Site 884 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q9NZM3.3)" Site 889 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:19690332, ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:23186163, ECO:0000244|PubMed:24275569; propagated from UniProtKB/Swiss-Prot (Q9NZM3.3)" Region 902..953 /region_name="SH3_Intersectin2_2" /note="Second Src homology 3 domain (or SH3B) of Intersectin-2; cd11990" /db_xref="CDD:212923" Site order(907,909,912,916,933..934,947,949..950) /site_type="other" /note="peptide ligand binding site [polypeptide binding]" /db_xref="CDD:212923" Site 968 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0000244|PubMed:15144186, ECO:0000244|PubMed:15592455, ECO:0000244|PubMed:19690332, ECO:0000244|PubMed:20068231; propagated from UniProtKB/Swiss-Prot (Q9NZM3.3)" Region 985..1036 /region_name="SH3_Intersectin2_3" /note="Third Src homology 3 domain (or SH3C) of Intersectin-2; cd11992" /db_xref="CDD:212925" Site order(990,992,995,999,1016..1017,1030,1032..1033) /site_type="other" /note="peptide ligand binding site [polypeptide binding]" /db_xref="CDD:212925" Region 1057..1115 /region_name="SH3_Intersectin2_4" /note="Fourth Src homology 3 domain (or SH3D) of Intersectin-2; cd11994" /db_xref="CDD:212927" Site order(1062,1064,1067,1071,1089..1090,1108,1110..1111) /site_type="other" /note="peptide ligand binding site [polypeptide binding]" /db_xref="CDD:212927" Region 1130..1183 /region_name="SH3_Intersectin2_5" /note="Fifth Src homology 3 domain (or SH3E) of Intersectin-2; cd11996" /db_xref="CDD:212929" Site order(1136,1138,1141,1145,1163..1164,1177,1179..1180) /site_type="other" /note="peptide ligand binding site [polypeptide binding]" /db_xref="CDD:212929" CDS 1..1249 /gene="ITSN2" /gene_synonym="PRO2015; SH3D1B; SH3P18; SWA; SWAP" /coded_by="NM_147152.3:267..4016" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS46230.1" /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 kcgnmddsvl qcllsllscl nnlflllkel retyntqqla 661 leqlykikrd klkeierkrl elmqkkkled eaarkakqgk enlwkenlrk eeeekqkrlq 721 eektqekiqe eerkaeekqr kdkdtlkaee kkretasvlv nyralypfea rnhdemsfns 781 gdiiqvdekt vgepgwlygs fqgnfgwfpc nyvekmpsse nekavspkka llpptvslsa 841 tstsseplss nqpasvtdyq nvsfsnltvn tswqkksaft rtvspgsvsp ihgqgqvven 901 lkaqalcswt akkdnhlnfs khdiitvleq qenwwfgevh ggrgwfpksy vkiipgsevk 961 reepealyaa vnkkptsaay svgeeyialy pyssvepgdl tftegeeilv tqkdgewwtg 1021 sigdrsgifp snyvkpkdqe sfgsasksga snkkpeiaqv tsayvasgse qlslapgqli 1081 lilkkntsgw wqgelqargk krqkgwfpas hvkllgpsse ratpafhpvc qviamydyaa 1141 nnedelsfsk gqlinvmnkd dpdwwqgein gvtglfpsny vkmttdsdps qqwcadlqtl 1201 dtmqpierkr qgyiheliqt eerymadlql vvevrrllla ssrgiccls // LOCUS NP_001358855 1097 aa linear PRI 12-MAY-2020 DEFINITION POTE ankyrin domain family member I isoform 1 [Homo sapiens]. ACCESSION NP_001358855 VERSION NP_001358855.1 DBSOURCE REFSEQ: accession NM_001371926.1 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 1097) 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 3 (residues 1 to 1097) AUTHORS Chang KW, Yang PY, Lai HY, Yeh TS, Chen TC and Yeh CT. TITLE Identification of a novel actin isoform in hepatocellular carcinoma JOURNAL Hepatol. Res. 36 (1), 33-39 (2006) PUBMED 16824795 REFERENCE 4 (residues 1 to 1097) AUTHORS Hahn Y, Bera TK, Pastan IH and Lee B. TITLE Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains JOURNAL Gene 366 (2), 238-245 (2006) PUBMED 16364570 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC013269.10 and AC132479.2. 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 :: SRR5189667.152692.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1097 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q21.1" Protein 1..1097 /product="POTE ankyrin domain family member I isoform 1" /calculated_mol_wt=123502 Region 158..>361 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); cl39094" /db_xref="CDD:393464" Region 174..203 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 205..236 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Site order(238,240,244..245,248..250,252..253,257,260,269,271, 273,277..278,281..283,285..286,290,293,302,304,306, 310..311,314..316,318..319,323,326,335) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" 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 670..>723 /region_name="CCDC144C" /note="CCDC144C protein coiled-coil region; pfam14915" /db_xref="CDD:373382" Region 723..1097 /region_name="NBD_sugar-kinase_HSP70_actin" /note="Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily; cl17037" /db_xref="CDD:388382" Site order(733..736,738,740,859,876..879) /site_type="other" /note="nucleotide binding site [chemical binding]" /db_xref="CDD:212657" CDS 1..1097 /gene="POTEI" /gene_synonym="POTE2beta" /coded_by="NM_001371926.1:134..3427" /note="isoform 1 is encoded by transcript variant 1" /db_xref="GeneID:653269" /db_xref="HGNC:HGNC:37093" ORIGIN 1 mvaevdsmpa assvkkpfvl rskmgkwcrh cfpccrgsgk snvgtsgdqd dstmktlrsk 61 mgkwcchcfp ccrgsgksnv gtsgdhddsa mktlrskmgk wcchcfpccr gsgksnvgaw 121 gdyddsafve pryhvrredl dklhraawwg kvarkdlivm lrdtdvnkqd kqkrtalhla 181 sangnsgvvk llldrrcqln vldnkkrtal tkavqcqede calmllehgt dpnipdeygn 241 ttlhyaiyne dklmakalll ygadiesknk hgltplllgv heqkqqvvkf likkkanlna 301 ldrygrtali lavccgsasi vsllleqnid vssqdlsgqt areyavsshh hvicqllsdy 361 kekqmlkiss ensnpeqdlk ltseeesqrf kgsensqpek msqepeinkd gdreveeemk 421 khesnnvgll enlsngvtag ngddglipqr ksrtpenqqf pdneseeyhr sgmvahtcnh 481 stlggrgrri tricelvsdy kekqmpkyss ensnpeqdlk ltseeesqrl kgsengqpek 541 rsqepeinkd gdrelenfma ieemkkhgst hvgfpenltn gatagngddg lipprksrtp 601 esqqfpdten eeyhsdeqnd tqkqfceeqn tgilhdeili heekqievve kmnselslsc 661 kkekdflhen stlreeiaml rleldtmkhq sqlrkkkyle diesvkkknd nllkalqlne 721 ltmdddtavl vidngsgmck agfagddapr avfpsivgrp rqqgmmggmh qkesyvgkea 781 qskrgiltlk ypmehgiitn wddmekiwhh tfynelrvap eehpilltea plnpkanrek 841 mtqimfetfn tpamyvaiqa mlslytsgrt tgivmdsgdg vthtvpiydg nalphatlrl 901 dlagreltdy lmkiltergy rfttmaerei vrdikeklcy valdfeqema maasssslek 961 syelpdgqvi tignewfrcp ealfqpcflg mescgihett fnsimksdvd irkdlytntv 1021 lsggttmypg mahrmqkeia alapsmlkir iiappkrkys vwvggsilas lstfqqmwis 1081 kqeydesgps ivhrkcf // LOCUS NP_001350438 481 aa linear PRI 12-MAY-2020 DEFINITION IQ domain-containing protein M isoform 2 [Homo sapiens]. ACCESSION NP_001350438 XP_024310078 VERSION NP_001350438.1 DBSOURCE REFSEQ: accession NM_001363509.2 KEYWORDS RefSeq. SOURCE Homo 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC096756.3, AC093893.2, AC027058.9 and AC108168.4. On May 21, 2018 this sequence version replaced XP_024310078.1. 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 :: SRR5189667.316268.1, SRR5189667.118980.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..481 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q31.23" Protein 1..481 /product="IQ domain-containing protein M isoform 2" /note="iQ domain-containing protein M" /calculated_mol_wt=57152 CDS 1..481 /gene="IQCM" /coded_by="NM_001363509.2:331..1776" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS87271.1" /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 ifrdyysktf ktlikkerqp 241 ikpepksqpr ikgtpnktdk ldskvkrigp hieifqvfre rkkfmitpkl irmvtvmqah 301 vrgwlerkrl qrvmtkaldh gpdmkavinm ygrlihrvry rrglwrtrqi lnlaeleewm 361 drkkfyeimf akredwpkie rnelpnffsd cghfptqkqv ddtwdlvhqd gkekyselik 421 kskaiemlft lyppegahvp dstllkstwl rpivngeegy ryivfhlkls egdlylfvfv 481 v // LOCUS NP_075560 989 aa linear PRI 12-MAY-2020 DEFINITION zinc finger SWIM domain-containing protein 4 isoform 1 [Homo sapiens]. ACCESSION NP_075560 XP_031342 VERSION NP_075560.2 DBSOURCE REFSEQ: accession NM_023072.3 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 989) AUTHORS Alleyne D, Witonsky DB, Mapes B, Nakagome S, Sommars M, Hong E, Muckala KA, Di Rienzo A and Kupfer SS. TITLE Colonic transcriptional response to 1alpha,25(OH)2 vitamin D3 in African- and European-Americans JOURNAL J. Steroid Biochem. Mol. Biol. 168, 49-59 (2017) PUBMED 28163244 REMARK GeneRIF: there are inter-ethnic differences for uridine phosphorylase 1 (UPP1) and zinc finger-SWIM containing 4 (ZSWIM4) in response to 1alpha,25(OH)2D3 REFERENCE 2 (residues 1 to 989) 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 AC020916.8, AK024452.1, BG764264.1 and AK022283.1. On Jun 20, 2008 this sequence version replaced NP_075560.1. ##Evidence-Data-START## Transcript exon combination :: AK024452.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA2142680 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..989 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.13-p13.12" Protein 1..989 /product="zinc finger SWIM domain-containing protein 4 isoform 1" /note="zinc finger SWIM domain-containing protein 4" /calculated_mol_wt=110007 CDS 1..989 /gene="ZSWIM4" /coded_by="NM_023072.3:207..3176" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS32924.1" /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 papellqkgs tcitntegwv ghpldpigcl 421 cralleacrl eeetltlypd sgpekrkvay qhvpvpgspg esylvlalev allglgqqra 481 lpeglyaqdk vvrneeqlla lleevelder lvqvlrkqag llleggpfsg fgevlfresv 541 pmhtcarylf tallphdpdl ayrlalramr lpiletafpa gephpsplds imsnrfprwf 601 ilghletrqc elastmltaa kgdpkwlhtv lgsiqqnihs pallfklaqd acktatpvsa 661 ppdttllgia lelglqvmrm tlnvmtwrrr emvrwlvsca teigpqalmn imqnwyslft 721 pveaativav tgtthatllr lqldtsrree lwacartlal qcamkdpqnc alpaltlcek 781 nhsafeaayq ivldaaaggl ghahlftvar ymehrglplr ayklatlala qlsiafnqds 841 hpavndvlwa cslshslgrh elsaivplii rsihcapmls dilrrwtlsa pglgplgarr 901 aakplgadra plcqlldaav tayittshsr lthisprhyg dfieflgkar etfllapdgh 961 lqfsqflenl kqtykgkkkl mllvrerfg // LOCUS NP_001265548 1037 aa linear PRI 12-MAY-2020 DEFINITION protocadherin-11 Y-linked isoform a [Homo sapiens]. ACCESSION NP_001265548 VERSION NP_001265548.1 DBSOURCE REFSEQ: accession NM_001278619.2 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 1037) AUTHORS Anilkumar TR, Devi AN, Pillai SM, Jayakrishnan K, Oommen OV and Kumar PG. TITLE Expression of protocadherin 11Yb (PCDH11Yb) in seminal germ cells is correlated with fertility status in men JOURNAL Reprod. Fertil. Dev. 29 (11), 2100-2111 (2017) PUBMED 28241900 REMARK GeneRIF: In the present study, PCDH11Yb, but not PCDH11Ya or PCDH11Yc, was expressed in germ cells isolated from the semen of all 13 men with proven fertility. However, in several subjects from various infertility classes, there was complete absence or a significant reduction in the expression of PCDH11Yb. In conclusion, expression levels of PCDH11Yb in germ cells in the semen were correlated with the fertility status of men. REFERENCE 2 (residues 1 to 1037) AUTHORS Priddle TH and Crow TJ. TITLE Protocadherin 11X/Y a human-specific gene pair: an immunohistochemical survey of fetal and adult brains JOURNAL Cereb. Cortex 23 (8), 1933-1941 (2013) PUBMED 22744706 REMARK GeneRIF: PCDH11Y expression was detected in the fetal neocortex, ganglionic eminences, cerebellum, and inferior olive. In the adult brain, the cerebral cortex, hippocampal formation, and cerebellum and brain stem were immunoreactive. REFERENCE 3 (residues 1 to 1037) AUTHORS Priddle TH and Crow TJ. TITLE The protocadherin 11X/Y (PCDH11X/Y) gene pair as determinant of cerebral asymmetry in modern Homo sapiens JOURNAL Ann. N. Y. Acad. Sci. 1288, 36-47 (2013) PUBMED 23600975 REMARK GeneRIF: the PCDH11X/Y gene pair determines cerebral asymmetry by initiating the right shift in Homo sapiens REFERENCE 4 (residues 1 to 1037) AUTHORS Ahn K, Huh JW, Kim DS, Ha HS, Kim YJ, Lee JR and Kim HS. TITLE Quantitative analysis of alternative transcripts of human PCDH11X/Y genes JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (3), 736-744 (2010) PUBMED 19859901 REMARK GeneRIF: The present article investigated the patterns of alternative splicing and expression of the PCDH11X/Y genes. REFERENCE 5 (residues 1 to 1037) AUTHORS Blanco-Arias P, Sargent CA and Affara NA. TITLE Protocadherin X (PCDHX) and Y (PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains JOURNAL Mamm. Genome 15 (1), 41-52 (2004) PUBMED 14727141 REFERENCE 6 (residues 1 to 1037) 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 1037) AUTHORS Chen MW, Vacherot F, De La Taille A, Gil-Diez-De-Medina S, Shen R, Friedman RA, Burchardt M, Chopin DK and Buttyan R. TITLE The emergence of protocadherin-PC expression during the acquisition of apoptosis-resistance by prostate cancer cells JOURNAL Oncogene 21 (51), 7861-7871 (2002) PUBMED 12420223 REMARK GeneRIF: A 4.8 kb cDNA was cloned from TPA-resistance LNCaP prostate cancer cells. It is an unusual protocadherin family gene with 2 large overlapping ORFs encoding homologous polypeptides, one with and one without a signal sequence. [protocadherin-PC] REFERENCE 8 (residues 1 to 1037) AUTHORS Blanco P, Sargent CA, Boucher CA, Mitchell M and Affara NA. TITLE Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain JOURNAL Mamm. Genome 11 (10), 906-914 (2000) PUBMED 11003707 REFERENCE 9 (residues 1 to 1037) 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 10 (residues 1 to 1037) 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 AF277053.1, AJ276803.1 and AC010722.2. Summary: This gene belongs to the protocadherin family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing seven cadherin repeats, a transmembrane domain, and a cytoplasmic tail that differs from those of the classical cadherins. This gene is located on the Y chromosome in a block of X/Y homology and is very closely related to its paralog on the X chromosome. The protein is thought to play a role in cell-cell recognition during development of the central nervous system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. Transcript Variant: This variant (d, also known as Ty2) contains an alternate exon in the 5' UTR, compared to variant a. Variants a and d 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 :: AF277053.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267776, SAMN03465404 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1037 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="Y" /map="Yp11.2" Protein 1..1037 /product="protocadherin-11 Y-linked isoform a" /note="protocadherin 22; protocadherin-PC; protocadherin prostate cancer; protocadherin on the Y chromosome" /calculated_mol_wt=114592 Region 49..123 /region_name="E_set" /note="Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus; cl09101" /db_xref="CDD:298831" Region 164..266 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(171..172,229,231,262,264..265) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 274..372 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(281..282,337,339,368,370..371) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 405..485 /region_name="CA" /note="Cadherin repeats; smart00112" /db_xref="CDD:214520" Region 493..587 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(498..499,550,552,583,585..586) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 595..690 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(602..603,653,655,686,688..689) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 702..793 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Region 796..997 /region_name="Protocadherin" /note="Protocadherin; pfam08374" /db_xref="CDD:285562" CDS 1..1037 /gene="PCDH11Y" /gene_synonym="PCDH-PC; PCDH22; PCDHX; PCDHY" /coded_by="NM_001278619.2:613..3726" /note="isoform a is encoded by transcript variant d" /db_xref="CCDS:CCDS14776.1" /db_xref="GeneID:83259" /db_xref="HGNC:HGNC:15813" /db_xref="MIM:400022" ORIGIN 1 mtvgfnsdis svvrvnttnc hkcllsgtyi favllvcvvf hsgaqeknyt ireeipenvl 61 ignllkdlnl slipnksltt tmqfklvykt gdvpliriee dtgeifttga ridreklcag 121 iprdehcfye vevailpdei frlvkirfli edindnaplf patvinisip ensainskyt 181 lpaavdpdvg ingvqnyeli ksqnifgldv ietpegdkmp qlivqkeldr eekdtyvmkv 241 kvedggfpqr sstailqvsv tdtndnhpvf keteievsip enapvgtsvt qlhatdadig 301 enakihfsfs nlvsniarrl fhlnattgli tikepldree tpnhkllvla sdgglmpara 361 mvlvnvtdvn dnvpsidiry ivnpvndtvv lseniplntk ialitvtdkd adhngrvtcf 421 tdheipfrlr pvfsnqflle naayldyest keyaikllaa dagkpplnqs amlfikvkde 481 ndnapvftqs fvtvsipenn spgiqlmkvs atdadsgpna einyllgpda ppefsldrrt 541 gmltvvkkld rekedkylft ilakdngvpp ltsnvtvfvs iidqndnspv fthneykfyv 601 penlprhgtv glitvtdpdy gdnsavtlsi ldenddftid sqtgvirpni sfdrekqesy 661 tfyvkaedgg rvsrsssakv tinvvdvndn kpvfivppyn ysyelvlpst npgtvvfqvi 721 avdndtgmna evrysivggn trdlfaidqe tgnitlmekc dvtdlglhrv lvkandlgqp 781 dslfsvvivn lfvnesvtna tlinelvrks ieapvtpnte iadvssptsd yvkilvaava 841 gtitvvvvif itavvrcrqa phlkaaqknm qnsewatpnp enrqmimmkk kkkkkkhspk 901 nlllnvvtie etkaddvdsd gnrvtldlpi dleeqtmgky nwvttpttfk pdspdlarhy 961 ksaspqpafq iqpetplnlk hhiiqelpld ntfvacdsis ncsssssdpy svsdcgypvt 1021 tfevpvsvht rptdsrt // LOCUS NP_001177399 28 aa linear PRI 12-MAY-2020 DEFINITION humanin-like 2 [Homo sapiens]. ACCESSION NP_001177399 VERSION NP_001177399.1 DBSOURCE REFSEQ: accession NM_001190470.2 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 28) AUTHORS Capt C, Passamonti M and Breton S. TITLE The human mitochondrial genome may code for more than 13 proteins JOURNAL Mitochondrial DNA A DNA Mapp Seq Anal 27 (5), 3098-3101 (2016) PUBMED 25630734 REFERENCE 2 (residues 1 to 28) AUTHORS Lee C, Yen K and Cohen P. TITLE Humanin: a harbinger of mitochondrial-derived peptides? JOURNAL Trends Endocrinol. Metab. 24 (5), 222-228 (2013) PUBMED 23402768 REMARK GeneRIF: Data suggest that humanin (the first small peptide of a putative set of mitochondrial derived peptides) exhibits strong cytoprotective actions against various stress and disease models. REFERENCE 3 (residues 1 to 28) AUTHORS Bodzioch M, Lapicka-Bodzioch K, Zapala B, Kamysz W, Kiec-Wilk B and Dembinska-Kiec A. TITLE Evidence for potential functionality of nuclearly-encoded humanin isoforms JOURNAL Genomics 94 (4), 247-256 (2009) PUBMED 19477263 REFERENCE 4 (residues 1 to 28) AUTHORS Guo B, Zhai D, Cabezas E, Welsh K, Nouraini S, Satterthwait AC and Reed JC. TITLE Humanin peptide suppresses apoptosis by interfering with Bax activation JOURNAL Nature 423 (6938), 456-461 (2003) PUBMED 12732850 REFERENCE 5 (residues 1 to 28) AUTHORS Tajima H, Niikura T, Hashimoto Y, Ito Y, Kita Y, Terashita K, Yamazaki K, Koto A, Aiso S and Nishimoto I. TITLE Evidence for in vivo production of Humanin peptide, a neuroprotective factor against Alzheimer's disease-related insults JOURNAL Neurosci. Lett. 324 (3), 227-231 (2002) PUBMED 12009529 REFERENCE 6 (residues 1 to 28) AUTHORS Hashimoto Y, Niikura T, Tajima H, Yasukawa T, Sudo H, Ito Y, Kita Y, Kawasumi M, Kouyama K, Doyu M, Sobue G, Koide T, Tsuji S, Lang J, Kurokawa K and Nishimoto I. TITLE A rescue factor abolishing neuronal cell death by a wide spectrum of familial Alzheimer's disease genes and Abeta JOURNAL Proc. Natl. Acad. Sci. U.S.A. 98 (11), 6336-6341 (2001) PUBMED 11371646 REMARK Erratum:[Proc Natl Acad Sci U S A 2001 Oct 23;98(22):12854] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC008434.5. 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 :: SRR7346977.2790186.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..28 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q14.1" Protein 1..28 /product="humanin-like 2" /note="MTRNR2-like 2; humanin-like protein 2" /calculated_mol_wt=2950 Region 1..22 /region_name="Humanin" /note="Humanin family; pfam15040" /db_xref="CDD:291699" CDS 1..28 /gene="MTRNR2L2" /gene_synonym="HN2" /coded_by="NM_001190470.2:923..1009" /db_xref="GeneID:100462981" /db_xref="HGNC:HGNC:37156" ORIGIN 1 maprgfscll lstseidlpv krllssvf // LOCUS NP_001275936 502 aa linear PRI 12-MAY-2020 DEFINITION transmembrane protein 161B isoform 1 [Homo sapiens]. ACCESSION NP_001275936 XP_005248501 VERSION NP_001275936.1 DBSOURCE REFSEQ: accession NM_001289007.2 KEYWORDS RefSeq. SOURCE Homo 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 Muench C, Schwandt M, Jung J, Cortes CR, Momenan R and Lohoff FW. TITLE The major depressive disorder GWAS-supported variant rs10514299 in TMEM161B-MEF2C predicts putamen activation during reward processing in alcohol dependence JOURNAL Transl Psychiatry 8 (1), 131 (2018) PUBMED 30006604 REMARK GeneRIF: The previously identified major depressive disorder risk variant rs10514299 in TMEM161B-MEF2C predicts neuronal correlates of reward processing in an alcohol dependence phenotype, possibly explaining part of the shared pathophysiology and comorbidity between the disorders. Publication Status: Online-Only REFERENCE 2 (residues 1 to 502) AUTHORS Hyde CL, Nagle MW, Tian C, Chen X, Paciga SA, Wendland JR, Tung JY, Hinds DA, Perlis RH and Winslow AR. TITLE Identification of 15 genetic loci associated with risk of major depression in individuals of European descent JOURNAL Nat. Genet. 48 (9), 1031-1036 (2016) PUBMED 27479909 REMARK GeneRIF: Single nucleotide polymorphism in TMEM161B gene is associated with major depressive disorder. REFERENCE 3 (residues 1 to 502) AUTHORS Sim X, Jensen RA, Ikram MK, Cotch MF, Li X, MacGregor S, Xie J, Smith AV, Boerwinkle E, Mitchell P, Klein R, Klein BE, Glazer NL, Lumley T, McKnight B, Psaty BM, de Jong PT, Hofman A, Rivadeneira F, Uitterlinden AG, van Duijn CM, Aspelund T, Eiriksdottir G, Harris TB, Jonasson F, Launer LJ, Attia J, Baird PN, Harrap S, Holliday EG, Inouye M, Rochtchina E, Scott RJ, Viswanathan A, Li G, Smith NL, Wiggins KL, Kuo JZ, Taylor KD, Hewitt AW, Martin NG, Montgomery GW, Sun C, Young TL, Mackey DA, van Zuydam NR, Doney AS, Palmer CN, Morris AD, Rotter JI, Tai ES, Gudnason V, Vingerling JR, Siscovick DS, Wang JJ and Wong TY. CONSRTM Wellcome Trust Case Control Consortium 2; Global BPGen Consortium TITLE Genetic loci for retinal arteriolar microcirculation JOURNAL PLoS ONE 8 (6), e65804 (2013) PUBMED 23776548 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 502) 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 502) 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 502) 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 DW423642.1, AK301091.1, AK300893.1 and AC010243.7. On Jan 10, 2014 this sequence version replaced XP_005248501.1. Transcript Variant: This variant (1) encodes isoform 1. ##Evidence-Data-START## Transcript exon combination :: AK301091.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..502 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q14.3" Protein 1..502 /product="transmembrane protein 161B isoform 1" /calculated_mol_wt=56819 Region 2..425 /region_name="Tmemb_161AB" /note="Predicted transmembrane protein 161AB; pfam10268" /db_xref="CDD:287270" Site 34 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NDZ6.1)" Site 107..127 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NDZ6.1)" Site 135 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NDZ6.1)" Site 136..156 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NDZ6.1)" Site 169..189 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NDZ6.1)" Site 203 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NDZ6.1)" Site 228..248 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NDZ6.1)" Site 265..285 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NDZ6.1)" Site 305..325 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NDZ6.1)" Site 367..387 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NDZ6.1)" Region 453..>494 /region_name="rve" /note="Integrase core domain; cl21549" /db_xref="CDD:304425" CDS 1..502 /gene="TMEM161B" /gene_synonym="FLB3342; PRO1313" /coded_by="NM_001289007.2:123..1631" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS75270.1" /db_xref="GeneID:153396" /db_xref="HGNC:HGNC:28483" ORIGIN 1 mgvigiqlvv tmvmasvmqk iiphyslarw llcngslrwy qhpteeelri lagkqqkgkt 61 kkdrkynghi eskpltipkd idlhletksv tevdtlalhy fpeyqwlvdf tvaatvvylv 121 tevyynfmkp tqemnislvw cllvlsfaik vlfsltthyf kvedggersv cvtfgffffv 181 kamavlivte nylefgletg ftnfsdsamq flekqglesq spvskltfkf flaifcsfig 241 afltfpglrl aqmhldalnl atekitqtll hinflaplfm vllwvkpitk dyimnpplgk 301 esiplmteat fdtlrlwlii llcalrlamm rshlqaylnl aqkcvdqmkk eagristvel 361 qkmvarvfyy lcvialqyva plvmllhttl llktlgnhsw giypesistl pvdnsllsns 421 vyselpsaeg kmkhnarqgp avppgmqayg aapfedlqld ftempkcggn kyllvlvctf 481 sgwveayptr tekaceithv ll // LOCUS NP_116142 184 aa linear PRI 12-MAY-2020 DEFINITION retina and anterior neural fold homeobox protein 2 [Homo sapiens]. ACCESSION NP_116142 VERSION NP_116142.1 DBSOURCE REFSEQ: accession NM_032753.4 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 184) AUTHORS Yang P, Chiang PW, Weleber RG and Pennesi ME. TITLE Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation JOURNAL JAMA Ophthalmol 133 (6), 653-661 (2015) PUBMED 25789692 REMARK GeneRIF: A frameshift heterozygous mutation in RAX2 inherited in an autosomal dominant fashion was associated with mixed cone and rod dysfunction. REFERENCE 2 (residues 1 to 184) 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 184) 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 184) AUTHORS Wang QL, Chen S, Esumi N, Swain PK, Haines HS, Peng G, Melia BM, McIntosh I, Heckenlively JR, Jacobson SG, Stone EM, Swaroop A and Zack DJ. TITLE QRX, a novel homeobox gene, modulates photoreceptor gene expression JOURNAL Hum. Mol. Genet. 13 (10), 1025-1040 (2004) PUBMED 15028672 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC005777.1, BC018709.1 and AY211277.1. This sequence is a reference standard in the RefSeqGene project. Summary: This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. ##Evidence-Data-START## Transcript exon combination :: AY211277.1, BQ639073.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN01820699 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..184 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.3" Protein 1..184 /product="retina and anterior neural fold homeobox protein 2" /note="retina and anterior neural fold homeobox like 1; Q50-type retinal homeobox protein; retina and anterior neural fold homeobox-like protein 1" /calculated_mol_wt=19955 Site order(28..32,34,51,57,70,72..73,76..77,79..81,83..84) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Site order(30,33,73,76..77,80) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" Region 31..84 /region_name="Homeobox" /note="Homeobox domain; pfam00046" /db_xref="CDD:365835" CDS 1..184 /gene="RAX2" /gene_synonym="ARMD6; CORD11; QRX; RAXL1" /coded_by="NM_032753.4:76..630" /db_xref="CCDS:CCDS12112.1" /db_xref="GeneID:84839" /db_xref="HGNC:HGNC:18286" /db_xref="MIM:610362" ORIGIN 1 mflspgegpa teggglgpge eapkkkhrrn rttfttyqlh qlerafeash ypdvysreel 61 aakvhlpevr vqvwfqnrra kwrrqerles gsgavaaprl peapalpfar ppamslplep 121 wlgpgppavp glprllgpgp glqasfgpha faptfadgfa leeaslrlla kehaqaldra 181 wppa // LOCUS NP_116753 1037 aa linear PRI 12-MAY-2020 DEFINITION protocadherin-11 Y-linked isoform a [Homo sapiens]. ACCESSION NP_116753 VERSION NP_116753.1 DBSOURCE REFSEQ: accession NM_032971.3 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 1037) AUTHORS Anilkumar TR, Devi AN, Pillai SM, Jayakrishnan K, Oommen OV and Kumar PG. TITLE Expression of protocadherin 11Yb (PCDH11Yb) in seminal germ cells is correlated with fertility status in men JOURNAL Reprod. Fertil. Dev. 29 (11), 2100-2111 (2017) PUBMED 28241900 REMARK GeneRIF: In the present study, PCDH11Yb, but not PCDH11Ya or PCDH11Yc, was expressed in germ cells isolated from the semen of all 13 men with proven fertility. However, in several subjects from various infertility classes, there was complete absence or a significant reduction in the expression of PCDH11Yb. In conclusion, expression levels of PCDH11Yb in germ cells in the semen were correlated with the fertility status of men. REFERENCE 2 (residues 1 to 1037) AUTHORS Priddle TH and Crow TJ. TITLE Protocadherin 11X/Y a human-specific gene pair: an immunohistochemical survey of fetal and adult brains JOURNAL Cereb. Cortex 23 (8), 1933-1941 (2013) PUBMED 22744706 REMARK GeneRIF: PCDH11Y expression was detected in the fetal neocortex, ganglionic eminences, cerebellum, and inferior olive. In the adult brain, the cerebral cortex, hippocampal formation, and cerebellum and brain stem were immunoreactive. REFERENCE 3 (residues 1 to 1037) AUTHORS Priddle TH and Crow TJ. TITLE The protocadherin 11X/Y (PCDH11X/Y) gene pair as determinant of cerebral asymmetry in modern Homo sapiens JOURNAL Ann. N. Y. Acad. Sci. 1288, 36-47 (2013) PUBMED 23600975 REMARK GeneRIF: the PCDH11X/Y gene pair determines cerebral asymmetry by initiating the right shift in Homo sapiens REFERENCE 4 (residues 1 to 1037) AUTHORS Ahn K, Huh JW, Kim DS, Ha HS, Kim YJ, Lee JR and Kim HS. TITLE Quantitative analysis of alternative transcripts of human PCDH11X/Y genes JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (3), 736-744 (2010) PUBMED 19859901 REMARK GeneRIF: The present article investigated the patterns of alternative splicing and expression of the PCDH11X/Y genes. REFERENCE 5 (residues 1 to 1037) AUTHORS Blanco-Arias P, Sargent CA and Affara NA. TITLE Protocadherin X (PCDHX) and Y (PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains JOURNAL Mamm. Genome 15 (1), 41-52 (2004) PUBMED 14727141 REFERENCE 6 (residues 1 to 1037) 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 1037) AUTHORS Chen MW, Vacherot F, De La Taille A, Gil-Diez-De-Medina S, Shen R, Friedman RA, Burchardt M, Chopin DK and Buttyan R. TITLE The emergence of protocadherin-PC expression during the acquisition of apoptosis-resistance by prostate cancer cells JOURNAL Oncogene 21 (51), 7861-7871 (2002) PUBMED 12420223 REMARK GeneRIF: A 4.8 kb cDNA was cloned from TPA-resistance LNCaP prostate cancer cells. It is an unusual protocadherin family gene with 2 large overlapping ORFs encoding homologous polypeptides, one with and one without a signal sequence. [protocadherin-PC] REFERENCE 8 (residues 1 to 1037) AUTHORS Blanco P, Sargent CA, Boucher CA, Mitchell M and Affara NA. TITLE Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain JOURNAL Mamm. Genome 11 (10), 906-914 (2000) PUBMED 11003707 REFERENCE 9 (residues 1 to 1037) 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 10 (residues 1 to 1037) 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 AJ276803.1 and AC010722.2. Summary: This gene belongs to the protocadherin family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing seven cadherin repeats, a transmembrane domain, and a cytoplasmic tail that differs from those of the classical cadherins. This gene is located on the Y chromosome in a block of X/Y homology and is very closely related to its paralog on the X chromosome. The protein is thought to play a role in cell-cell recognition during development of the central nervous system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. Transcript Variant: This variant (a, also known as Ty1) represents the shortest transcript and encodes the shortest isoform (a). Variants a and d 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 :: AJ276803.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1037 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="Y" /map="Yp11.2" Protein 1..1037 /product="protocadherin-11 Y-linked isoform a" /note="protocadherin 22; protocadherin-PC; protocadherin prostate cancer; protocadherin on the Y chromosome" /calculated_mol_wt=114592 Region 49..123 /region_name="E_set" /note="Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus; cl09101" /db_xref="CDD:298831" Region 164..266 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(171..172,229,231,262,264..265) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 274..372 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(281..282,337,339,368,370..371) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 405..485 /region_name="CA" /note="Cadherin repeats; smart00112" /db_xref="CDD:214520" Region 493..587 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(498..499,550,552,583,585..586) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 595..690 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(602..603,653,655,686,688..689) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 702..793 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Region 796..997 /region_name="Protocadherin" /note="Protocadherin; pfam08374" /db_xref="CDD:285562" CDS 1..1037 /gene="PCDH11Y" /gene_synonym="PCDH-PC; PCDH22; PCDHX; PCDHY" /coded_by="NM_032971.3:444..3557" /note="isoform a is encoded by transcript variant a" /db_xref="CCDS:CCDS14776.1" /db_xref="GeneID:83259" /db_xref="HGNC:HGNC:15813" /db_xref="MIM:400022" ORIGIN 1 mtvgfnsdis svvrvnttnc hkcllsgtyi favllvcvvf hsgaqeknyt ireeipenvl 61 ignllkdlnl slipnksltt tmqfklvykt gdvpliriee dtgeifttga ridreklcag 121 iprdehcfye vevailpdei frlvkirfli edindnaplf patvinisip ensainskyt 181 lpaavdpdvg ingvqnyeli ksqnifgldv ietpegdkmp qlivqkeldr eekdtyvmkv 241 kvedggfpqr sstailqvsv tdtndnhpvf keteievsip enapvgtsvt qlhatdadig 301 enakihfsfs nlvsniarrl fhlnattgli tikepldree tpnhkllvla sdgglmpara 361 mvlvnvtdvn dnvpsidiry ivnpvndtvv lseniplntk ialitvtdkd adhngrvtcf 421 tdheipfrlr pvfsnqflle naayldyest keyaikllaa dagkpplnqs amlfikvkde 481 ndnapvftqs fvtvsipenn spgiqlmkvs atdadsgpna einyllgpda ppefsldrrt 541 gmltvvkkld rekedkylft ilakdngvpp ltsnvtvfvs iidqndnspv fthneykfyv 601 penlprhgtv glitvtdpdy gdnsavtlsi ldenddftid sqtgvirpni sfdrekqesy 661 tfyvkaedgg rvsrsssakv tinvvdvndn kpvfivppyn ysyelvlpst npgtvvfqvi 721 avdndtgmna evrysivggn trdlfaidqe tgnitlmekc dvtdlglhrv lvkandlgqp 781 dslfsvvivn lfvnesvtna tlinelvrks ieapvtpnte iadvssptsd yvkilvaava 841 gtitvvvvif itavvrcrqa phlkaaqknm qnsewatpnp enrqmimmkk kkkkkkhspk 901 nlllnvvtie etkaddvdsd gnrvtldlpi dleeqtmgky nwvttpttfk pdspdlarhy 961 ksaspqpafq iqpetplnlk hhiiqelpld ntfvacdsis ncsssssdpy svsdcgypvt 1021 tfevpvsvht rptdsrt // LOCUS NP_789743 342 aa linear PRI 12-MAY-2020 DEFINITION interleukin-9 receptor isoform 2 [Homo sapiens]. ACCESSION NP_789743 VERSION NP_789743.2 DBSOURCE REFSEQ: accession NM_176786.2 KEYWORDS RefSeq. SOURCE Homo 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 Raychaudhuri SK, Abria C, Maverakis EM and Raychaudhuri SP. TITLE IL-9 receptor: Regulatory role on FLS and pannus formation JOURNAL Cytokine 111, 58-62 (2018) PUBMED 30114630 REMARK GeneRIF: Thus the IL-9/IL-9R system is a new contributing factor in the cytokine network of psoriatic arthritis and rheumatoid arthritis. REFERENCE 2 (residues 1 to 342) AUTHORS Guggino G, Ciccia F, Di Liberto D, Lo Pizzo M, Ruscitti P, Cipriani P, Ferrante A, Sireci G, Dieli F, Fournie JJ, Giacomelli R and Triolo G. TITLE Interleukin (IL)-9/IL-9R axis drives gammadelta T cells activation in psoriatic arthritis patients JOURNAL Clin. Exp. Immunol. 186 (3), 277-283 (2016) PUBMED 27543964 REMARK GeneRIF: in PsA patients gammadelta T cells activation is driven prevalently by IL-9/IL-9R interaction, and not only by IL-23/IL-23R. Together these findings indicate gammadelta T cells and IL-9 as new players in the pathogenesis of PsA. REFERENCE 3 (residues 1 to 342) AUTHORS Lv X, Feng L, Ge X, Lu K and Wang X. TITLE Interleukin-9 promotes cell survival and drug resistance in diffuse large B-cell lymphoma JOURNAL J. Exp. Clin. Cancer Res. 35 (1), 106 (2016) PUBMED 27364124 REMARK GeneRIF: Results show that silencing of the IL-9R gene alleviates the drug resistance of diffuse large B-cell lymphoma (DLBCL) cell lines that is induced by IL-9 suggesting that IL-9R is involved in chemotherapy drug resistance of DLBCL. Publication Status: Online-Only REFERENCE 4 (residues 1 to 342) AUTHORS Li HJ, Sun QM, Liu LZ, Zhang J, Huang J, Wang CH, Ding R, Song K and Tong Z. TITLE High expression of IL-9R promotes the progression of human hepatocellular carcinoma and indicates a poor clinical outcome JOURNAL Oncol. Rep. 34 (2), 795-802 (2015) PUBMED 26082242 REMARK GeneRIF: The findings indicated that IL-9R was constitutively expressed and exerted a tumor-promoting effect in hepatocellular carcinoma, whose expression level may be a useful biomarker of tumor invasiveness and patient clinical outcome. REFERENCE 5 (residues 1 to 342) AUTHORS Vermeesch JR, Petit P, Kermouni A, Renauld JC, Van Den Berghe H and Marynen P. TITLE The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y JOURNAL Hum. Mol. Genet. 6 (1), 1-8 (1997) PUBMED 9002663 REFERENCE 6 (residues 1 to 342) AUTHORS Demoulin JB, Uyttenhove C, Van Roost E, DeLestre B, Donckers D, Van Snick J and Renauld JC. TITLE A single tyrosine of the interleukin-9 (IL-9) receptor is required for STAT activation, antiapoptotic activity, and growth regulation by IL-9 JOURNAL Mol. Cell. Biol. 16 (9), 4710-4716 (1996) PUBMED 8756628 REFERENCE 7 (residues 1 to 342) AUTHORS Kermouni A, Van Roost E, Arden KC, Vermeesch JR, Weiss S, Godelaine D, Flint J, Lurquin C, Szikora JP, Higgs DR et al. TITLE The IL-9 receptor gene (IL9R): genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of the sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter JOURNAL Genomics 29 (2), 371-382 (1995) PUBMED 8666384 REFERENCE 8 (residues 1 to 342) AUTHORS Kimura Y, Takeshita T, Kondo M, Ishii N, Nakamura M, Van Snick J and Sugamura K. TITLE Sharing of the IL-2 receptor gamma chain with the functional IL-9 receptor complex JOURNAL Int. Immunol. 7 (1), 115-120 (1995) PUBMED 7718508 REFERENCE 9 (residues 1 to 342) AUTHORS Chang MS, Engel G, Benedict C, Basu R and McNinch J. TITLE Isolation and characterization of the human interleukin-9 receptor gene JOURNAL Blood 83 (11), 3199-3205 (1994) PUBMED 8193355 REFERENCE 10 (residues 1 to 342) AUTHORS Renauld JC, Druez C, Kermouni A, Houssiau F, Uyttenhove C, Van Roost E and Van Snick J. TITLE Expression cloning of the murine and human interleukin 9 receptor cDNAs JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89 (12), 5690-5694 (1992) PUBMED 1376929 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AJ271736.1 and BC025298.1. On May 25, 2012 this sequence version replaced NP_789743.1. Summary: The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (2) has multiple coding region differences, compared to variant 1, one of which results in a frameshift. it initiates translation at an alternate start codon. The resulting isoform (2) has distinct N- and C-termini 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 :: BC051337.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01820689, SAMN01820693 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..342 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /chromosome="Y" /map="Xq28 and Yq12" Protein 1..342 /product="interleukin-9 receptor isoform 2" /note="IL-9 receptor" /calculated_mol_wt=37258 CDS 1..342 /gene="IL9R" /gene_synonym="CD129; IL-9R" /coded_by="NM_176786.2:49..1077" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS59180.1" /db_xref="GeneID:3581" /db_xref="HGNC:HGNC:6030" /db_xref="MIM:300007" ORIGIN 1 mpqtcdgtgq mhlgsncckn gqtllqrtch gvsccgwwfq aarsilgkgp saqslagwtl 61 esealrrdmg twllacicic tcvclgvsvt gegqgprsrt ftcltnnilr idchwsapel 121 gqgsspwllf trllaahisa scgavsapsc chlrqcschl tispslstta clggsrsaww 181 trstcpgdts nissghcilt wsispalepm ttllsyelaf kkqeeaweqa qhrdhivgvt 241 wlileafeld pgfihearlr vqmatleddv veeerytgqw sewsqpvcfq apqrqgplip 301 pwgwpgntlv avsifllltg ptyllfklsp rlgwgptgpv cc // LOCUS NP_001269989 144 aa linear PRI 12-MAY-2020 DEFINITION uncharacterized protein CCDC198 isoform 5 [Homo sapiens]. ACCESSION NP_001269989 VERSION NP_001269989.1 DBSOURCE REFSEQ: accession NM_001283060.2 KEYWORDS RefSeq. SOURCE Homo 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 Aksorn N, Roytrakul S, Kittisenachai S, Leelawat K, Chanvorachote P, Topanurak S, Hamano S and Lek-Uthai U. TITLE Novel Potential Biomarkers for Opisthorchis viverrini Infection and Associated Cholangiocarcinoma JOURNAL In Vivo 32 (4), 871-878 (2018) PUBMED 29936472 REMARK GeneRIF: According to our analysis, three proteins, namely aristaless-like homeobox1 isoform X1 (ALX1), major histocompatibility complex polypeptide-related sequence A (MICA), and uncharacterized protein C14orf105 isoform X12 were found to be potential markers for Opisthorchis viverrini (OV)- infection, as they were predominantly found in all OV-infected groups REFERENCE 2 (residues 1 to 144) AUTHORS Nowicka-Bauer K, Ozgo M, Lepczynski A, Kamieniczna M, Malcher A, Skrzypczak W and Kurpisz M. TITLE Human sperm proteins identified by 2-dimensional electrophoresis and mass spectrometry and their relevance to a transcriptomic analysis JOURNAL Reprod Biol 18 (2), 151-160 (2018) PUBMED 29526398 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC028060.1, AI733133.1 and AL355834.4. Transcript Variant: This variant (6) contains multiple differences in the UTRs and in the coding region, compared to variant 1. It initiates translation at an in-frame downstream start codon. The encoded isoform (5) has a shorter N-terminus and a distinct C-terminus, compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: BC028060.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2145122 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..144 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="14" /map="14q22.3" Protein 1..144 /product="uncharacterized protein CCDC198 isoform 5" /note="uncharacterized protein C14orf105" /calculated_mol_wt=16918 Region <1..>140 /region_name="DUF4619" /note="Domain of unknown function (DUF4619); pfam15398" /db_xref="CDD:292041" CDS 1..144 /gene="CCDC198" /gene_synonym="C14orf105" /coded_by="NM_001283060.2:357..791" /note="isoform 5 is encoded by transcript variant 6" /db_xref="GeneID:55195" /db_xref="HGNC:HGNC:20189" ORIGIN 1 myfdiplehr etsiikrhpp qrlqklepid lprvitsgrl lsqreartmh kakvlekkmq 61 tpmytsenrq ylhkmqvlem irkrqeaqme lkkslhgear inkqsprdhk akktlqstpr 121 nddhdlltml pdeilnrgpg qths // LOCUS NP_001264243 662 aa linear PRI 12-MAY-2020 DEFINITION formin-1 isoform c [Homo sapiens]. ACCESSION NP_001264243 XP_003959994 XP_003960634 XP_003960927 VERSION NP_001264243.1 DBSOURCE REFSEQ: accession NM_001277314.2 KEYWORDS RefSeq. SOURCE Homo 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 Watanabe N, Tohyama K and Yamashiro S. TITLE Mechanostress resistance involving formin homology proteins: G- and F-actin homeostasis-driven filament nucleation and helical polymerization-mediated actin polymer stabilization JOURNAL Biochem. Biophys. Res. Commun. 506 (2), 323-329 (2018) PUBMED 30309655 REMARK GeneRIF: In the article it is discussed how and to what extent formins-mediated F-actin restoration might confer mechanostress resistance to the cell. (Review) Review article REFERENCE 2 (residues 1 to 662) AUTHORS Rana MK, Aloisio FM, Choi C and Barber DL. TITLE Formin-dependent TGF-beta signaling for epithelial to mesenchymal transition JOURNAL Mol. Biol. Cell 29 (12), 1465-1475 (2018) PUBMED 29668357 REMARK GeneRIF: These findings reveal a previously unrecognized role for formin-dependent actin architectures in proximal TGF-beta signaling REFERENCE 3 (residues 1 to 662) AUTHORS Isogai T and Innocenti M. TITLE New nuclear and perinuclear functions of formins JOURNAL Biochem. Soc. Trans. 44 (6), 1701-1708 (2016) PUBMED 27913680 REMARK GeneRIF: Formin-1 (FMN1) was shown to reside in the nucleus and studies indicate that some formins can shuttle in and out of the nucleus. Review article REFERENCE 4 (residues 1 to 662) AUTHORS Murugesan S, Hong J, Yi J, Li D, Beach JR, Shao L, Meinhardt J, Madison G, Wu X, Betzig E and Hammer JA. TITLE Formin-generated actomyosin arcs propel T cell receptor microcluster movement at the immune synapse JOURNAL J. Cell Biol. 215 (3), 383-399 (2016) PUBMED 27799367 REMARK GeneRIF: actin arcs populating the medial, lamella-like region of the immunological synapse (IS) arise from linear actin filaments generated by one or more formins present at the IS distal edge. REFERENCE 5 (residues 1 to 662) AUTHORS Figueroa JD, Han SS, Garcia-Closas M, Baris D, Jacobs EJ, Kogevinas M, Schwenn M, Malats N, Johnson A, Purdue MP, Caporaso N, Landi MT, Prokunina-Olsson L, Wang Z, Hutchinson A, Burdette L, Wheeler W, Vineis P, Siddiq A, Cortessis VK, Kooperberg C, Cussenot O, Benhamou S, Prescott J, Porru S, Bueno-de-Mesquita HB, Trichopoulos D, Ljungberg B, Clavel-Chapelon F, Weiderpass E, Krogh V, Dorronsoro M, Travis R, Tjonneland A, Brenan P, Chang-Claude J, Riboli E, Conti D, Gago-Dominguez M, Stern MC, Pike MC, Van Den Berg D, Yuan JM, Hohensee C, Rodabough R, Cancel-Tassin G, Roupret M, Comperat E, Chen C, De Vivo I, Giovannucci E, Hunter DJ, Kraft P, Lindstrom S, Carta A, Pavanello S, Arici C, Mastrangelo G, Karagas MR, Schned A, Armenti KR, Hosain GM, Haiman CA, Fraumeni JF Jr, Chanock SJ, Chatterjee N, Rothman N and Silverman DT. TITLE Genome-wide interaction study of smoking and bladder cancer risk JOURNAL Carcinogenesis 35 (8), 1737-1744 (2014) PUBMED 24662972 REFERENCE 6 (residues 1 to 662) AUTHORS Katoh M and Katoh M. TITLE Identification and characterization of the human FMN1 gene in silico JOURNAL Int. J. Mol. Med. 14 (1), 121-126 (2004) PUBMED 15202026 REFERENCE 7 (residues 1 to 662) AUTHORS Kobielak A, Pasolli HA and Fuchs E. TITLE Mammalian formin-1 participates in adherens junctions and polymerization of linear actin cables JOURNAL Nat. Cell Biol. 6 (1), 21-30 (2004) PUBMED 14647292 REFERENCE 8 (residues 1 to 662) AUTHORS Tanaka K. TITLE Formin family proteins in cytoskeletal control JOURNAL Biochem. Biophys. Res. Commun. 267 (2), 479-481 (2000) PUBMED 10631086 REMARK Review article REFERENCE 9 (residues 1 to 662) AUTHORS Zeller R, Haramis AG, Zuniga A, McGuigan C, Dono R, Davidson G, Chabanis S and Gibson T. TITLE Formin defines a large family of morphoregulatory genes and functions in establishment of the polarising region JOURNAL Cell Tissue Res. 296 (1), 85-93 (1999) PUBMED 10199968 REMARK Review article REFERENCE 10 (residues 1 to 662) AUTHORS Maas RL, Jepeal LI, Elfering SL, Holcombe RF, Morton CC, Eddy RL, Byers MG, Shows TB and Leder P. TITLE A human gene homologous to the formin gene residing at the murine limb deformity locus: chromosomal location and RFLPs JOURNAL Am. J. Hum. Genet. 48 (4), 687-695 (1991) PUBMED 1673046 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from HY009284.1, AC055874.8, AC090098.7, AC019278.6 and CR749487.1. On or before Mar 29, 2013 this sequence version replaced XP_003959994.1, XP_003960634.1, XP_003960927.1. Summary: This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]. Transcript Variant: This variant (3) lacks several central and 3' region exons, but it includes an alternate 3' terminal exon and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has the same N-terminus but it contains a distinct and significantly shorter 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 :: CR749487.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267768, SAMN03465403 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..662 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q13.3" Protein 1..662 /product="formin-1 isoform c" /note="formin (limb deformity); limb deformity protein homolog" /calculated_mol_wt=71761 Region 1..622 /region_name="Microtubule-binding. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q68DA7.3)" CDS 1..662 /gene="FMN1" /gene_synonym="FMN; LD" /coded_by="NM_001277314.2:486..2474" /note="isoform c is encoded by transcript variant 3" /db_xref="CCDS:CCDS61582.1" /db_xref="GeneID:342184" /db_xref="HGNC:HGNC:3768" /db_xref="MIM:136535" ORIGIN 1 megthctlql hkpitelcyi sfclpkgevr gfsykgtvtl drsnkgfhnc yqvreesdii 61 slsqepdehp gdiffkqtpt kdiltelykl ttererlltn llssdhilgi tmgnqegklq 121 elsvslaped dcfqsagdwq gelpvgplnk rsthgnkkpr rssgrresfg alpqkrtkrk 181 grggresapl mgkdkicssh slplsrtrpn lwvleekgnl lpngalacsl qrrescppdi 241 pktpdtdlgf gsfetafkdt glgrevlppd cssteaggdg irrppsgleh qqtglseshq 301 dpekhpeaek demekpakrt ckqkpvskvv akvqdlssqv qrvvkthskg ketiairpaa 361 haefvpkadl ltlpgaeaga hgsrrqgker qgdrssqspa getasissvs asaegavnkv 421 plkviesekl deapegkrlg fpvhtsvpht rpetrnkrra glplgghksl fldlphkvgp 481 dssqprgdkk kpsppapaal gkvfnnsasq ssthkqtspv psplsprlps pqqhhrilrl 541 palpgereaa lndspcrksr vfsgcvsadt leppssakvt etkgaspafl ragqprlvpg 601 etlekslgpg kttaepqhqs ppafhwdlqq hfqepvirtv siscasnlik eeagkgkesr 661 sg // LOCUS NP_001341363 173 aa linear PRI 12-MAY-2020 DEFINITION small integral membrane protein 35 [Homo sapiens]. ACCESSION NP_001341363 VERSION NP_001341363.1 DBSOURCE REFSEQ: accession NM_001354434.2 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 AP000665.5, AB231756.1, AB231757.1 and AP002962.2. 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## RNAseq introns :: mixed/partial sample support SAMEA2162328 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..173 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11q23.3" Protein 1..173 /product="small integral membrane protein 35" /note="TMPRSS4 antisense RNA 1 (non-protein coding)" /calculated_mol_wt=18705 CDS 1..173 /gene="SMIM35" /gene_synonym="TMPRSS4-AS1" /coded_by="NM_001354434.2:244..765" /db_xref="GeneID:100526771" /db_xref="HGNC:HGNC:44179" ORIGIN 1 miftvnrksh apqvitplqd greledvlnh tlwplqnlml gdgvspfaqa glgllasrdp 61 pvsasqstri tgmghhawpm lvssprlpsg gedsistlgl ilgvglllll vsilgyslak 121 wyqrgycweg pnfvfnlyqi rnlkdlemgp pftisghiss tdggymkfsn glv // LOCUS NP_001337381 593 aa linear PRI 12-MAY-2020 DEFINITION regulating synaptic membrane exocytosis protein 1 isoform 47 [Homo sapiens]. ACCESSION NP_001337381 VERSION NP_001337381.1 DBSOURCE REFSEQ: accession NM_001350452.2 KEYWORDS RefSeq. SOURCE Homo 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 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 Ca(2+) 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 593) 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 593) 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 593) 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 593) 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 593) 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 593) 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 593) 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 593) 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 593) 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 :: SRR1803612.21340.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03465402, SAMN03465403 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..593 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6q13" Protein 1..593 /product="regulating synaptic membrane exocytosis protein 1 isoform 47" /note="RAB3-interacting protein 2; rab3-interacting molecule 1; rab-3-interacting protein 2" /calculated_mol_wt=66958 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" CDS 1..593 /gene="RIMS1" /gene_synonym="CORD7; RAB3IP2; RIM; RIM1" /coded_by="NM_001350452.2:231..2012" /note="isoform 47 is encoded by transcript variant 47" /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 dsellmlpra krgrsaeclh ttselqpfld rarsastncl rpdtslhspe 541 rermhrqrsp tqsppadtsf ssrrgrqlpq vpvrsgsieq eqekynsstk vnn // LOCUS NP_778146 584 aa linear PRI 12-MAY-2020 DEFINITION POTE ankyrin domain family member D [Homo sapiens]. ACCESSION NP_778146 VERSION NP_778146.2 DBSOURCE REFSEQ: accession NM_174981.6 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 584) AUTHORS Bera TK, Walker DA, Sherins RJ and Pastan I. TITLE POTE protein, a cancer-testis antigen, is highly expressed in spermatids in human testis and is associated with apoptotic cells JOURNAL Biochem. Biophys. Res. Commun. 417 (4), 1271-1274 (2012) PUBMED 22234308 REMARK GeneRIF: This study suggests POTE may have a role in apoptosis in the human testis. REFERENCE 2 (residues 1 to 584) AUTHORS Ise T, Das S, Nagata S, Maeda H, Lee Y, Onda M, Anver MR, Bera TK and Pastan I. TITLE Expression of POTE protein in human testis detected by novel monoclonal antibodies JOURNAL Biochem. Biophys. Res. Commun. 365 (4), 603-608 (2008) PUBMED 17996727 REMARK GeneRIF: By immunohistochemistry we demonstrated that the POTE protein is expressed in primary spermatocytes, implying a role in spermatogenesis. REFERENCE 3 (residues 1 to 584) AUTHORS Hahn Y, Bera TK, Pastan IH and Lee B. TITLE Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains JOURNAL Gene 366 (2), 238-245 (2006) PUBMED 16364570 REFERENCE 4 (residues 1 to 584) AUTHORS Bera TK, Huynh N, Maeda H, Sathyanarayana BK, Lee B and Pastan I. TITLE Five POTE paralogs and their splice variants are expressed in human prostate and encode proteins of different lengths JOURNAL Gene 337, 45-53 (2004) PUBMED 15276201 REMARK GeneRIF: POTE protein isoforms were characterized and may have important signaling function in the reproductive system. REFERENCE 5 (residues 1 to 584) AUTHORS Bera TK, Zimonjic DB, Popescu NC, Sathyanarayana BK, Kumar V, Lee B and Pastan I. TITLE POTE, a highly homologous gene family located on numerous chromosomes and expressed in prostate, ovary, testis, placenta, and prostate cancer JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (26), 16975-16980 (2002) PUBMED 12475935 REMARK Erratum:[Proc Natl Acad Sci U S A. 2003 Feb 4;100(3):1462] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AP001465.1. On Jul 25, 2007 this sequence version replaced NP_778146.1. Sequence Note:. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..584 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21q11.2" Protein 1..584 /product="POTE ankyrin domain family member D" /note="Expressed in prostate, ovary, testis, and placenta; ankyrin repeat domain 21; cancer/testis antigen family 104, member 1; ANKRD26-like family B member 3; prostate, ovary, testis-expressed protein; ankyrin repeat domain-containing protein 21" /calculated_mol_wt=66263 Region 143..193 /region_name="Ank_4" /note="Ankyrin repeats (many copies); pfam13637" /db_xref="CDD:290365" Region 167..292 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 172..201 /region_name="ANK 1" /note="propagated from UniProtKB/Swiss-Prot (Q86YR6.2)" Site order(174,178..179,182..184,186..187,191,194,203,205,207, 211..212,215..217,219..220,224,227,236,238,240,244..245, 248..250,252..253,257,260,269) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 174..203 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 177..269 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 205..236 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 205..234 /region_name="ANK 2" /note="propagated from UniProtKB/Swiss-Prot (Q86YR6.2)" Region 233..357 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 238..269 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 238..267 /region_name="ANK 3" /note="propagated from UniProtKB/Swiss-Prot (Q86YR6.2)" Region 243..335 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 271..302 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 271..300 /region_name="ANK 4" /note="propagated from UniProtKB/Swiss-Prot (Q86YR6.2)" Region 304..335 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 304..333 /region_name="ANK 5" /note="propagated from UniProtKB/Swiss-Prot (Q86YR6.2)" Region 337..366 /region_name="ANK 6" /note="propagated from UniProtKB/Swiss-Prot (Q86YR6.2)" Region <440..556 /region_name="SH3_and_anchor" /note="SH3 domain protein; TIGR04211" /db_xref="CDD:275056" CDS 1..584 /gene="POTED" /gene_synonym="A26B3; ANKRD21; CT104.1; POTE; POTE-21; POTE21" /coded_by="NM_174981.6:453..2207" /db_xref="CCDS:CCDS13562.1" /db_xref="GeneID:317754" /db_xref="HGNC:HGNC:23822" /db_xref="MIM:607549" ORIGIN 1 mvaevcsmpt astvkkpfdl rskmgkwchh rfpccrgsgk snmgtsgdhd dsfmkmlrsk 61 mgkccrhcfp ccrgsgtsnv gtsgdhensf mkmlrskmgk wcchcfpccr gsgksnvgaw 121 gdydhsafme pryhirredl dklhraawwg kvprkdlivm lrdtdmnkrd kekrtalhla 181 sangnsevvq llldrrcqln vldnkkrtal ikaiqcqede cvlmllehga drnipdeygn 241 talhyaiyne dklmakalll ygadiesknk cgltplllgv heqkqqvvkf likkkanlnv 301 ldrygrtali lavccgsasi vnllleqnvd vssqdlsgqt areyavsshh hvicellsdy 361 kekqmlkiss ensnpeqdlk ltseeesqrl kvsensqpek msqepeinkd cdreveeeik 421 khgsnpvglp enltngasag ngddglipqr rsrkpenqqf pdteneeyhs deqndtrkql 481 seeqntgisq deiltnkqkq ievaeqkmns elslshkkee dllrensvlq eeiamlrlel 541 detkhqnqlr enkileeies vkektdkllr amqlneealt ktni // LOCUS NP_001018092 80 aa linear PRI 12-MAY-2020 DEFINITION adipogenin [Homo sapiens]. ACCESSION NP_001018092 VERSION NP_001018092.1 DBSOURCE REFSEQ: accession NM_001018082.3 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 80) 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 80) 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, BC029594.1, BX105371.1 and AA974242.1. 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 (1) represents the longer transcript and encodes the conserved protein. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.253471.1, SRR5189667.1081.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2144120 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## NMD candidate :: translation inferred from conservation RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..80 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20q11.23" Protein 1..80 /product="adipogenin" /note="adipogenesis associated; small adipocyte factor 1 (SMAF1)" /calculated_mol_wt=9334 Region 1..78 /region_name="Adipogenin" /note="Adipogenin; pfam15202" /db_xref="CDD:291856" Site 14..34 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q0VDE8.1)" CDS 1..80 /gene="ADIG" /gene_synonym="SMAF1" /coded_by="NM_001018082.3:55..297" /db_xref="CCDS:CCDS54461.1" /db_xref="GeneID:149685" /db_xref="HGNC:HGNC:28606" /db_xref="MIM:611396" ORIGIN 1 mkyplmplvn dltfsflvfw fclpvgllll liiwlrflls qdseendssv cldwepwskg 61 paefcwkgtl hgqekerpcw // LOCUS NP_612200 339 aa linear PRI 12-MAY-2020 DEFINITION trace amine-associated receptor 1 [Homo sapiens]. ACCESSION NP_612200 VERSION NP_612200.1 DBSOURCE REFSEQ: accession NM_138327.4 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 339) AUTHORS Loftis JM, Lasarev M, Shi X, Lapidus J, Janowsky A, Hoffman WF and Huckans M. TITLE Trace amine-associated receptor gene polymorphism increases drug craving in individuals with methamphetamine dependence JOURNAL PLoS ONE 14 (10), e0220270 (2019) PUBMED 31600226 REMARK GeneRIF: Neuroadaptation to chronic Methamphetamine use may be altered by TAAR1 genotype and result in increased dopamine signaling and craving in individuals with the V288V genotype. Publication Status: Online-Only REFERENCE 2 (residues 1 to 339) AUTHORS Shi X, Swanson TL, Miner NB, Eshleman AJ and Janowsky A. TITLE Activation of Trace Amine-Associated Receptor 1 Stimulates an Antiapoptotic Signal Cascade via Extracellular Signal-Regulated Kinase 1/2 JOURNAL Mol. Pharmacol. 96 (4), 493-504 (2019) PUBMED 31409621 REMARK GeneRIF: Findings suggest that TAAR1 activation protects against methamphetamine-induced cell apoptosis and TAAR1 may play a role in cell death in neurodegenerative diseases. REFERENCE 3 (residues 1 to 339) AUTHORS Pitts MS, McShane JN, Hoener MC, Christian SL and Berry MD. TITLE TAAR1 levels and sub-cellular distribution are cell line but not breast cancer subtype specific JOURNAL Histochem. Cell Biol. 152 (2), 155-166 (2019) PUBMED 31111198 REMARK GeneRIF: It clearly demonstrate variable expression and sub-cellular localization of TAAR1 across BC cell lines, we find no evidence for association with BC subtype. REFERENCE 4 (residues 1 to 339) AUTHORS John J, Kukshal P, Bhatia T, Chowdari KV, Nimgaonkar VL, Deshpande SN and Thelma BK. TITLE Possible role of rare variants in Trace amine associated receptor 1 in schizophrenia JOURNAL Schizophr. Res. 189, 190-195 (2017) PUBMED 28242106 REMARK GeneRIF: This study identified a rare heterozygous variant (c.545G>T; p.Cys182Phe) in Trace amine associated receptor 1 gene (TAAR1 6q23.2) in three affected members in a small SZ family. REFERENCE 5 (residues 1 to 339) AUTHORS Vattai A, Akyol E, Kuhn C, Hofmann S, Heidegger H, von Koch F, Hermelink K, Wuerstlein R, Harbeck N, Mayr D, Spitzweg C, Toth B, Mahner S, Jeschke U and Ditsch N. TITLE Increased trace amine-associated receptor 1 (TAAR1) expression is associated with a positive survival rate in patients with breast cancer JOURNAL J. Cancer Res. Clin. Oncol. 143 (9), 1637-1647 (2017) PUBMED 28409272 REMARK GeneRIF: TAAR1 seems to be an independent predictor for breast cancer survival. REFERENCE 6 (residues 1 to 339) AUTHORS Lindemann L, Ebeling M, Kratochwil NA, Bunzow JR, Grandy DK and Hoener MC. TITLE Trace amine-associated receptors form structurally and functionally distinct subfamilies of novel G protein-coupled receptors JOURNAL Genomics 85 (3), 372-385 (2005) PUBMED 15718104 REFERENCE 7 (residues 1 to 339) 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 339) 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 9 (residues 1 to 339) AUTHORS Bunzow JR, Sonders MS, Arttamangkul S, Harrison LM, Zhang G, Quigley DI, Darland T, Suchland KL, Pasumamula S, Kennedy JL, Olson SB, Magenis RE, Amara SG and Grandy DK. TITLE Amphetamine, 3,4-methylenedioxymethamphetamine, lysergic acid diethylamide, and metabolites of the catecholamine neurotransmitters are agonists of a rat trace amine receptor JOURNAL Mol. Pharmacol. 60 (6), 1181-1188 (2001) PUBMED 11723224 REFERENCE 10 (residues 1 to 339) AUTHORS Borowsky B, Adham N, Jones KA, Raddatz R, Artymyshyn R, Ogozalek KL, Durkin MM, Lakhlani PP, Bonini JA, Pathirana S, Boyle N, Pu X, Kouranova E, Lichtblau H, Ochoa FY, Branchek TA and Gerald C. TITLE Trace amines: identification of a family of mammalian G protein-coupled receptors JOURNAL Proc. Natl. Acad. Sci. U.S.A. 98 (16), 8966-8971 (2001) PUBMED 11459929 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL032821.2 and AL513524.8. Summary: The protein encoded by this gene is a G-protein coupled receptor activated by trace amines. The encoded protein responds little or not at all to dopamine, serotonin, epinephrine, or histamine, but responds well to beta-phenylethylamine, p-tyramine, octopamine, and tryptamine. While primarily functioning in neurologic systems, there is evidence that this gene is involved in blood cell and immunologic functions as well. This gene is thought to be intronless. [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 :: DRR138510.17884.1 [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..339 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6q23.2" Protein 1..339 /product="trace amine-associated receptor 1" /note="trace amine receptor 1" /calculated_mol_wt=38961 Site 10 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96RJ0.1)" Site 17 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96RJ0.1)" Site 26..46 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96RJ0.1)" Region 38..319 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 40..304 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 60..80 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96RJ0.1)" Site 99..119 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96RJ0.1)" Site 137..157 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96RJ0.1)" Site 189..209 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96RJ0.1)" Site 253..273 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96RJ0.1)" Site 288..308 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96RJ0.1)" CDS 1..339 /gene="TAAR1" /gene_synonym="TA1; TAR1; TRAR1" /coded_by="NM_138327.4:180..1199" /db_xref="CCDS:CCDS5158.1" /db_xref="GeneID:134864" /db_xref="HGNC:HGNC:17734" /db_xref="MIM:609333" ORIGIN 1 mmpfchniin iscvknnwsn dvraslyslm vliilttlvg nlivivsish fkqlhtptnw 61 lihsmatvdf llgclvmpys mvrsaehcwy fgevfckiht stdimlssas ifhlsfisid 121 ryyavcdplr ykakmnilvi cvmifiswsv pavfafgmif lelnfkgaee iyykhvhcrg 181 gcsvffskis gvltfmtsfy ipgsimlcvy yriyliakeq arlisdanqk lqiglemkng 241 isqskerkav ktlgivmgvf licwcpffic tvmdpflhyi ipptlndvli wfgylnstfn 301 pmvyaffypw frkalkmmlf gkifqkdssr cklflelss // LOCUS NP_055510 1427 aa linear PRI 12-MAY-2020 DEFINITION coiled-coil domain-containing protein 144A isoform a [Homo sapiens]. ACCESSION NP_055510 VERSION NP_055510.1 DBSOURCE REFSEQ: accession NM_014695.3 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 Park SS, Stankiewicz P, Bi W, Shaw C, Lehoczky J, Dewar K, Birren B and Lupski JR. TITLE Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs JOURNAL Genome Res. 12 (5), 729-738 (2002) PUBMED 11997339 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC098850.2, BC133019.1 and BC144225.1. Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). ##Evidence-Data-START## Transcript exon combination :: BC144225.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03465402 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1427 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17p11.2" Protein 1..1427 /product="coiled-coil domain-containing protein 144A isoform a" /note="coiled-coil domain-containing protein 144A" /calculated_mol_wt=164995 Region 822..1123 /region_name="CCDC144C" /note="CCDC144C protein coiled-coil region; pfam14915" /db_xref="CDD:291576" Region 1244..1354 /region_name="DUF3496" /note="Domain of unknown function (DUF3496); pfam12001" /db_xref="CDD:288825" CDS 1..1427 /gene="CCDC144A" /coded_by="NM_014695.3:161..4444" /note="isoform a is encoded by transcript variant 1" /db_xref="CCDS:CCDS45621.1" /db_xref="GeneID:9720" /db_xref="HGNC:HGNC:29072" ORIGIN 1 maswggekrg gaegspkpav yatrktpsvg sqgdqwylgy pgdqwssgfp yswwknsvgs 61 eskhgegald qpqhdvrled lgelhraars gdvpgvehil apgdtgvdkr drkksiqqlv 121 peykekqtpe slpqnnnpdw hptnltlsde tcqrsknlkv ddkcpsvsps mpenqsatke 181 lgqmnltere kmdtgvvlls gndtlhdlcq sqlpenkesk eaeqdselts eeeqerlkgc 241 enkqpqktsq epemakdcdr edipiypvlp hvqkseemwi eqgklewknq lklvinelkq 301 rfgeiyekyk ipacpeeepl ldnstrgtdv kdipfnltnn ipgceeedas eisvsvvfet 361 fpeqkepslk niihpyyhpy sgsqehvcqs sskfhlhenk ldcdndnkpg ighifstdkn 421 fhndastkka rnpevvmvem kedqefdlqm tknmnqnsds gstnnykslk pklenlsslp 481 pdsdrtsevy lheelqqdmq kfknevntle eeflalkked vqlhkdveee mekhrsnste 541 lsgtltdgtt vgndddglnq qiprkengeh drpadktsne knevknqiyp eadfadsmep 601 seiasedcel shsvyenfml lieqlrmeyk dsaslpriqd tfclcehllk lknnhcdqlt 661 vklkqmenmv svlqnelset kktklqlelq kiewekelyd lrlalkqene ekrnadmlyn 721 kdseqlrike eecgkvvetk qqlkwnlrrl vkelrtvrnn ldlvvqernd aqkqlseeqd 781 arilqdqilt skqkelemar kkmnseishr hqkekdlfhe dcmlqeeial lrleidtikn 841 qnkqkekkyf edieavkekn dnlqkiikln eetltetilq ysgqlnnlta enkilnsele 901 ngkqnqerle iemesyrcrl aaavrdcdqs qtardlkldf qrtrqewvrl hdkmkvdmsg 961 lqakneilse klsnaeskin slqiqlhntr dalgreslil ervqrdlsqt qcqkketeqm 1021 yqieqsklkk yiakqesvee rlsqlqsenm llrqqlddah kkansqekts stiqdqfhsa 1081 aknlqaesek qilslqeknk elmdeynhlk ermdqcekek agrkidltea qetvpsrclh 1141 ldaenevlql qqtlfsmkai qkqcetlqkn kkqlkqevvn lksymernml ergkaewhkl 1201 lieerarkei eeklneailt lqkqaavshe qlvqlrednt tsiktqmelt ikdleseisr 1261 iktsqadfnk telerykely leevkvresl snelsrtnem iaevstqltv ekeqtrsrsl 1321 ftayatrpvl espcvgnlnd seglnrkhip rkkrsalkdm esyllkmqqk lqndltaeva 1381 gssqtglhri pqcssfssss lhlllcsicq pfflilqlll nmnldpi // LOCUS NP_001335000 75 aa linear PRI 12-MAY-2020 DEFINITION protein FAM236A isoform 2 [Homo sapiens]. ACCESSION NP_001335000 VERSION NP_001335000.1 DBSOURCE REFSEQ: accession NM_001348071.2 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 AC234776.4. ##Evidence-Data-START## Transcript exon combination :: AI149821.1, HY038238.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..75 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq13.1" Protein 1..75 /product="protein FAM236A isoform 2" /note="DMRTC1 antisense RNA 1 (non-protein coding); long intergenic non-protein coding RNA 684; protein FAM236A" /calculated_mol_wt=8122 CDS 1..75 /gene="FAM236A" /gene_synonym="DMRTC1-AS1; LINC00684" /coded_by="NM_001348071.2:58..285" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS87766.1" /db_xref="GeneID:100129407" /db_xref="HGNC:HGNC:44268" ORIGIN 1 miftpflppa dlnvkglqnd peewvavsda tedpsggtgl prepallrgs wrsrfqrala 61 cftkcfrggy ralgi // LOCUS NP_001365111 345 aa linear PRI 12-MAY-2020 DEFINITION IQ domain-containing protein M isoform 5 [Homo sapiens]. ACCESSION NP_001365111 XP_024310082 VERSION NP_001365111.1 DBSOURCE REFSEQ: accession NM_001378182.1 KEYWORDS RefSeq. SOURCE Homo 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC096756.3, AC093893.2, AC027058.9 and AC108168.4. On Jan 30, 2020 this sequence version replaced XP_024310082.1. 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 :: SRR5189667.234563.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..345 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q31.23" Protein 1..345 /product="IQ domain-containing protein M isoform 5" /note="iQ domain-containing protein M" /calculated_mol_wt=41261 CDS 1..345 /gene="IQCM" /coded_by="NM_001378182.1:750..1787" /note="isoform 5 is encoded by transcript variant 8" /db_xref="GeneID:285423" /db_xref="HGNC:HGNC:53443" ORIGIN 1 mqahrsnykr nrmlellypf pvhlylqpgt snlellkepd kafydwrgfv ltrsfrlacd 61 srrvsfsqss sifrdyysiv cswhinmlli fktfktlikk erqpikpepk sqprikgtpn 121 ktdkldskvk rigphieifq vfrerkkfmi tpklirmvtv mqahvrgwle rkrlqrvmtk 181 aldhgpdmka vinmygrlih rvryrrglwr trqilnlael eewmdrkkfy eimfakredw 241 pkiernelpn ffsdcghfpt qkqvddtwdl vhqdgkekys elikkskaie mlftlyppeg 301 ahvpdstllk stwlrpivng eegyryivfh lklsegdlyl fvfvv // LOCUS NP_001365114 154 aa linear PRI 12-MAY-2020 DEFINITION IQ domain-containing protein M isoform 7 [Homo sapiens]. ACCESSION NP_001365114 VERSION NP_001365114.1 DBSOURCE REFSEQ: accession NM_001378185.1 KEYWORDS RefSeq. SOURCE Homo 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC096756.3 and AC093893.2. 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 :: SRR5189667.187231.1, SRR5189661.46274.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..154 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q31.23" Protein 1..154 /product="IQ domain-containing protein M isoform 7" /note="iQ domain-containing protein M" /calculated_mol_wt=18179 CDS 1..154 /gene="IQCM" /coded_by="NM_001378185.1:394..858" /note="isoform 7 is encoded by transcript variant 10" /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 rpidlitkgl sqtwtedrkt ylqirathyw shlp // LOCUS NP_002160 189 aa linear PRI 13-MAY-2020 DEFINITION interferon alpha-5 precursor [Homo sapiens]. ACCESSION NP_002160 VERSION NP_002160.1 DBSOURCE REFSEQ: accession NM_002169.3 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 189) AUTHORS Hirankarn N, Tangwattanachuleeporn M, Wongpiyabovorn J, Wongchinsri J and Avihingsanon Y. TITLE Genetic association of interferon-alpha subtypes 1, 2 and 5 in systemic lupus erythematosus JOURNAL Tissue Antigens 72 (6), 588-592 (2008) PUBMED 19000144 REMARK GeneRIF: This is the first report of positive association of IFNA gene in SLE, especially the role of specific subtypes IFNA1 and IFNA5. GeneRIF: Observational study of gene-gene interaction. (HuGE Navigator) REFERENCE 2 (residues 1 to 189) AUTHORS Mailaparambil B, Jochum J, Forster J, Heinze J, Krueger M and Heinzmann A. TITLE Polymorphisms of interferons and their receptors in the genetics of severe RSV-associated diseases JOURNAL Arch. Virol. 153 (11), 2133-2137 (2008) PUBMED 18953482 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 3 (residues 1 to 189) AUTHORS Janssen R, Bont L, Siezen CL, Hodemaekers HM, Ermers MJ, Doornbos G, van 't Slot R, Wijmenga C, Goeman JJ, Kimpen JL, van Houwelingen HC, Kimman TG and Hoebee B. TITLE Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes JOURNAL J. Infect. Dis. 196 (6), 826-834 (2007) PUBMED 17703412 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (residues 1 to 189) 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 5 (residues 1 to 189) 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 6 (residues 1 to 189) AUTHORS Henco,K., Brosius,J., Fujisawa,A., Fujisawa,J.I., Haynes,J.R., Hochstadt,J., Kovacic,T., Pasek,M., Schambock,A., Schmid,J. et al. TITLE Structural relationship of human interferon alpha genes and pseudogenes JOURNAL J. Mol. Biol. 185 (2), 227-260 (1985) PUBMED 4057246 REFERENCE 7 (residues 1 to 189) AUTHORS Goeddel,D.V., Leung,D.W., Dull,T.J., Gross,M., Lawn,R.M., McCandliss,R., Seeburg,P.H., Ullrich,A., Yelverton,E. and Gray,P.W. TITLE The structure of eight distinct cloned human leukocyte interferon cDNAs JOURNAL Nature 290 (5801), 20-26 (1981) PUBMED 6163083 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL162420.13. 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 is intronless :: BC093755.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..189 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9p21.3" Protein 1..189 /product="interferon alpha-5 precursor" /note="interferon alpha-G; interferon alpha-61" /calculated_mol_wt=19695 sig_peptide 1..21 /note="/evidence=ECO:0000269|PubMed:15340161; propagated from UniProtKB/Swiss-Prot (P01569.1)" /calculated_mol_wt=2266 mat_peptide 22..189 /product="Interferon alpha-5. /id=PRO_0000016362" /note="propagated from UniProtKB/Swiss-Prot (P01569.1)" /calculated_mol_wt=19695 Region 26..185 /region_name="Interferon" /note="Interferon alpha/beta domain; pfam00143" /db_xref="CDD:306620" Site order(28..29,32,35..36,39,42..43,100..101,103..104, 106..107,110,113..114,117..118,121) /site_type="other" /note="putative IFNAR-1 binding site" /db_xref="CDD:238047" Site order(53..60,62..64,70..71,141..142,144..145,148..149, 151..152,155..160) /site_type="other" /note="putative IFNAR-2 binding site" /db_xref="CDD:238047" Site 101 /site_type="other" /note="N-glycosylation site [posttranslational modification]" /db_xref="CDD:238047" CDS 1..189 /gene="IFNA5" /gene_synonym="IFN-alpha-5; IFN-alphaG; INA5; INFA5; leIF G" /coded_by="NM_002169.3:58..627" /db_xref="CCDS:CCDS6502.1" /db_xref="GeneID:3442" /db_xref="HGNC:HGNC:5426" /db_xref="MIM:147565" ORIGIN 1 malpfvllma lvvlncksic slgcdlpqth slsnrrtlmi maqmgrispf sclkdrhdfg 61 fpqeefdgnq fqkaqaisvl hemiqqtfnl fstkdssatw detlldkfyt elyqqlndle 121 acmmqevgve dtplmnvdsi ltvrkyfqri tlyltekkys pcawevvrae imrsfslsan 181 lqerlrrke // LOCUS NP_115626 823 aa linear PRI 13-MAY-2020 DEFINITION ankyrin repeat domain-containing protein 20A1 [Homo sapiens]. ACCESSION NP_115626 XP_003960501 VERSION NP_115626.2 DBSOURCE REFSEQ: accession NM_032250.5 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 823) AUTHORS Vural B, Demirkan A, Ugurel E, Kalaylioglu-Wheeler Z, Esen BA, Gure AO, Gul A and Ozbek U. TITLE Seroreactivity against PTEN-induced putative kinase 1 (PINK1) in Turkish patients with Behcet's disease JOURNAL Clin. Exp. Rheumatol. 27 (2 Suppl 53), S67-S72 (2009) PUBMED 19796537 REFERENCE 2 (residues 1 to 823) 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 BX649567.3. On or before Nov 2, 2012 this sequence version replaced XP_003960501.1, NP_115626.1. ##Evidence-Data-START## Transcript exon combination :: AL136793.1, GQ891381.1 [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..823 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q21.11" Protein 1..823 /product="ankyrin repeat domain-containing protein 20A1" /note="ankyrin repeat domain 20A; epididymis secretory sperm binding protein" /calculated_mol_wt=93917 Region 37..64 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 61..186 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 66..95 /region_name="ANK 1" /note="propagated from UniProtKB/Swiss-Prot (Q5TYW2.1)" Region 68..97 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Site order(99,101,105..106,109..111,113..114,118,121,130,132, 134,138..139,142..144,146..147,151,154,163,165,167, 171..172,175..177,179..180,184,187,196) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 99..130 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 99..128 /region_name="ANK 2" /note="propagated from UniProtKB/Swiss-Prot (Q5TYW2.1)" Region 127..247 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 132..163 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 132..161 /region_name="ANK 3" /note="propagated from UniProtKB/Swiss-Prot (Q5TYW2.1)" Region 165..196 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 165..194 /region_name="ANK 4" /note="propagated from UniProtKB/Swiss-Prot (Q5TYW2.1)" Region 198..229 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 198..227 /region_name="ANK 5" /note="propagated from UniProtKB/Swiss-Prot (Q5TYW2.1)" Region 291..690 /region_name="Mitofilin" /note="Mitochondrial inner membrane protein; pfam09731" /db_xref="CDD:313027" Region 514..805 /region_name="CCDC144C" /note="CCDC144C protein coiled-coil region; pfam14915" /db_xref="CDD:317340" CDS 1..823 /gene="ANKRD20A1" /gene_synonym="ANKRD20A" /coded_by="NM_032250.5:497..2968" /db_xref="CCDS:CCDS6620.1" /db_xref="GeneID:84210" /db_xref="HGNC:HGNC:23665" ORIGIN 1 mklfgfgsrr gqtaqgsidh vytgsgyrir dselqkihra avkgdaaeve rclarrsgdl 61 daldkqhrta lhlactsghv qvvtllvnrk cqidvcdken rtpliqavhc qeeacavill 121 ehganpnlkd iygntalhya vysestslae kllshgahie aldkdnntpl lfaiickkek 181 mvefllkkka sshavdrlrr salmlavyyd spgivnillk qnidvfaqdm cgrdaedyai 241 shhltkiqqq ilehkkkilk keksdvgssd esavsifhel rvdslpasdd kdlnvatkqc 301 vpekvseplp gsshekgnri vngqgegppa khpslkpste vedpavkgav qrknvqtlra 361 eqalpvasee eqerhersek kqpqvkegnn tnksekiqls enicdstssa aagrltqqrk 421 igktypqqfp kklkeehdrc tlkqeneekt nvnmlykknr eelerkekqy kkeveakqle 481 ptvqslemks ktarntpnwd fhnheemkgl mdencilkad iailrqeict mkndnleken 541 kylkdikivk etnaalekyi klneemitet afryqqelnd lkaentrlna ellkekeskk 601 rleadiesyq srlaaaiskh sesvkternl klalertrdv svqvemssai skvkaenefl 661 teqlsetqik fnalkdkfrk trdslrkksl aletvqndls qtqqqtqemk emyqnaeakv 721 nnstgkwncv eerichlqre nawlvqqldd vhqkedhkei vtniqrgfie sgkkdlvlee 781 kskklmnecd hlkeslfqye rektegvvsi kedkyfqtsr kti // LOCUS NP_001365109 352 aa linear PRI 13-MAY-2020 DEFINITION IQ domain-containing protein M isoform 4 [Homo sapiens]. ACCESSION NP_001365109 XP_024310081 VERSION NP_001365109.1 DBSOURCE REFSEQ: accession NM_001378180.1 KEYWORDS RefSeq. SOURCE Homo 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC096756.3, AC093893.2, AC027058.9, AC108168.4 and AC097465.2. On Jan 30, 2020 this sequence version replaced XP_024310081.1. 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 :: SRR5189667.393479.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..352 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q31.23" Protein 1..352 /product="IQ domain-containing protein M isoform 4" /note="iQ domain-containing protein M" /calculated_mol_wt=41994 CDS 1..352 /gene="IQCM" /coded_by="NM_001378180.1:602..1660" /note="isoform 4 is encoded by transcript variant 6" /db_xref="GeneID:285423" /db_xref="HGNC:HGNC:53443" ORIGIN 1 mqahrsnykr nrmlellypf pvhlylqpgt snlellkepd kafydwrgfv ltrsfrlacd 61 srrvsfsqss sifrdyyskt fktlikkerq pikpepksqp rikgtpnktd kldskvkrig 121 phieifqvfr erkkfmitpk lirmvtvmqa hvrgwlerkr lqrvmtkald hgpdmkavin 181 mygrlihrvr yrrglwrtrq ilnlaeleew mdrkkfyeim fakredwpki ernelpnffs 241 dcghfptqkq vddtwdlvhq dgkekyseli kkskaiemlf tlyppegahv pdstllkstw 301 lrpivngeeg yryivnghpa lkranirvvg klvarsirer kmrqhyksck ve // LOCUS NP_001365107 494 aa linear PRI 13-MAY-2020 DEFINITION IQ domain-containing protein M isoform 3 [Homo sapiens]. ACCESSION NP_001365107 XP_024310076 VERSION NP_001365107.1 DBSOURCE REFSEQ: accession NM_001378178.1 KEYWORDS RefSeq. SOURCE Homo 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC096756.3, AC093893.2, AC027058.9 and AC108168.4. On Jan 30, 2020 this sequence version replaced XP_024310076.1. 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 :: SRR5189667.252097.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..494 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q31.23" Protein 1..494 /product="IQ domain-containing protein M isoform 3" /note="iQ domain-containing protein M" /calculated_mol_wt=58723 CDS 1..494 /gene="IQCM" /coded_by="NM_001378178.1:331..1815" /note="isoform 3 is encoded by transcript variant 4" /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 hqdgkekyse likkskaiem lftlyppega hvpdstllks twlrpivnge egyryivfhl 481 klsegdlylf vfvv // LOCUS NP_001365106 494 aa linear PRI 13-MAY-2020 DEFINITION IQ domain-containing protein M isoform 3 [Homo sapiens]. ACCESSION NP_001365106 XP_011530756 VERSION NP_001365106.1 DBSOURCE REFSEQ: accession NM_001378177.1 KEYWORDS RefSeq. SOURCE Homo 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC096756.3, AC093893.2, AC027058.9 and AC108168.4. On Jan 30, 2020 this sequence version replaced XP_011530756.1. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.245677.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..494 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q31.23" Protein 1..494 /product="IQ domain-containing protein M isoform 3" /note="iQ domain-containing protein M" /calculated_mol_wt=58723 CDS 1..494 /gene="IQCM" /coded_by="NM_001378177.1:394..1878" /note="isoform 3 is encoded by transcript variant 3" /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 hqdgkekyse likkskaiem lftlyppega hvpdstllks twlrpivnge egyryivfhl 481 klsegdlylf vfvv // LOCUS NP_001310008 333 aa linear PRI 13-MAY-2020 DEFINITION heat shock transcription factor, X-linked member 3 [Homo sapiens]. ACCESSION NP_001310008 XP_005262408 XP_005276777 VERSION NP_001310008.1 DBSOURCE REFSEQ: accession NM_001323079.3 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 333) 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 AC244197.3. On or before Apr 16, 2016 this sequence version replaced XP_005262408.1, XP_005276777.1. ##Evidence-Data-START## Transcript exon combination :: BU664697.1, SRR5189667.132964.1 [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..333 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq28" Protein 1..333 /product="heat shock transcription factor, X-linked member 3" /note="heat shock transcription factor, X-linked-like" /calculated_mol_wt=36997 Region 83..182 /region_name="HSF_DNA-bind" /note="HSF-type DNA-binding; pfam00447" /db_xref="CDD:306863" CDS 1..333 /gene="HSFX3" /coded_by="NM_001323079.3:73..1074" /db_xref="CCDS:CCDS83499.1" /db_xref="GeneID:101928917" /db_xref="HGNC:HGNC:52395" ORIGIN 1 masqnteqey eaklapsvgg eptsggpsgs spdpnpdsse vldrhedqam sqdpgsqdns 61 ppedrnqrvv nvednhnlfr lsfprklwti veedtfksvs wnddgdavii dkdlfqrevl 121 qrkgaerifk tdsltsfirq lnlygfcktr psnspgnkkm miycnsnfqr dkprlleniq 181 rkdalrntaq qatrvptpkr knlvatrrsl riyhinarke aikmcqqgap svqgpsgtqs 241 frrsgmwskk satrhplgng ppqepngpsw egtsgnvtft ssattwmegt gilsslvysd 301 ngsvmslyni cyyallasls vmspnepsdd eee // LOCUS NP_001365110 345 aa linear PRI 13-MAY-2020 DEFINITION IQ domain-containing protein M isoform 5 [Homo sapiens]. ACCESSION NP_001365110 XP_024310083 VERSION NP_001365110.1 DBSOURCE REFSEQ: accession NM_001378181.1 KEYWORDS RefSeq. SOURCE Homo 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC096756.3, AC093893.2, AC027058.9 and AC108168.4. On Jan 30, 2020 this sequence version replaced XP_024310083.1. 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 :: SRR5189667.395271.1, SRR5189661.184821.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..345 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q31.23" Protein 1..345 /product="IQ domain-containing protein M isoform 5" /note="iQ domain-containing protein M" /calculated_mol_wt=41148 CDS 1..345 /gene="IQCM" /coded_by="NM_001378181.1:654..1691" /note="isoform 5 is encoded by transcript variant 7" /db_xref="GeneID:285423" /db_xref="HGNC:HGNC:53443" ORIGIN 1 mtiiepvskk metakqqhfe esrnrmlell ypfpvhlylq pgtsnlellk epdkafydwr 61 gfvltrsfrl acdsrrvsfs qsssifrdyy sktfktlikk erqpikpepk sqprikgtpn 121 ktdkldskvk rigphieifq vfrerkkfmi tpklirmvtv mqahvrgwle rkrlqrvmtk 181 aldhgpdmka vinmygrlih rvryrrglwr trqilnlael eewmdrkkfy eimfakredw 241 pkiernelpn ffsdcghfpt qkqvddtwdl vhqdgkekys elikkskaie mlftlyppeg 301 ahvpdstllk stwlrpivng eegyryivfh lklsegdlyl fvfvv // LOCUS NP_001365115 154 aa linear PRI 13-MAY-2020 DEFINITION IQ domain-containing protein M isoform 7 [Homo sapiens]. ACCESSION NP_001365115 VERSION NP_001365115.1 DBSOURCE REFSEQ: accession NM_001378186.1 KEYWORDS RefSeq. SOURCE Homo 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC096756.3 and AC093893.2. 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 :: SRR5189667.43310.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..154 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q31.23" Protein 1..154 /product="IQ domain-containing protein M isoform 7" /note="iQ domain-containing protein M" /calculated_mol_wt=18179 CDS 1..154 /gene="IQCM" /coded_by="NM_001378186.1:331..795" /note="isoform 7 is encoded by transcript variant 11" /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 rpidlitkgl sqtwtedrkt ylqirathyw shlp // LOCUS NP_612146 376 aa linear PRI 13-MAY-2020 DEFINITION actin-related protein T1 [Homo sapiens]. ACCESSION NP_612146 VERSION NP_612146.1 DBSOURCE REFSEQ: accession NM_138289.4 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 376) AUTHORS Bal E, Park HS, Belaid-Choucair Z, Kayserili H, Naville M, Madrange M, Chiticariu E, Hadj-Rabia S, Cagnard N, Kuonen F, Bachmann D, Huber M, Le Gall C, Cote F, Hanein S, Rosti RO, Aslanger AD, Waisfisz Q, Bodemer C, Hermine O, Morice-Picard F, Labeille B, Caux F, Mazereeuw-Hautier J, Philip N, Levy N, Taieb A, Avril MF, Headon DJ, Gyapay G, Magnaldo T, Fraitag S, Crollius HR, Vabres P, Hohl D, Munnich A and Smahi A. TITLE Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas JOURNAL Nat. Med. 23 (10), 1226-1233 (2017) PUBMED 28869610 REMARK GeneRIF: Study identified mutations in the ACTRT1 gene, which encodes actin-related protein T1 (ARP-T1), in two of the six families with Bazex-Dupre-Christol syndrome (BDCS) that were examined in this study. ARP-T1 was found to directly bind to the GLI1 promoter, thus inhibiting GLI1 expression, and loss of ARP-T1 led to activation of the Hedgehog pathway in individuals with BDCS. REFERENCE 2 (residues 1 to 376) 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 3 (residues 1 to 376) AUTHORS Heid H, Figge U, Winter S, Kuhn C, Zimbelmann R and Franke W. TITLE Novel actin-related proteins Arp-T1 and Arp-T2 as components of the cytoskeletal calyx of the mammalian sperm head JOURNAL Exp. Cell Res. 279 (2), 177-187 (2002) PUBMED 12243744 REMARK GeneRIF: Describes the discovery of two actin-related proteins as major components in a cytoskeletal, nonmotile structure of bull spermatozoa, suggesting that certain members of this family of proteins may serve functions other than nucleation of actin filaments. COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB452140.1, BC014597.1 and DB510229.1. Summary: This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 2010]. ##Evidence-Data-START## Transcript is intronless :: BC014597.1, AY251532.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..376 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq25" Protein 1..376 /product="actin-related protein T1" /calculated_mol_wt=41565 Region 9..376 /region_name="ACTIN" /note="Actin; smart00268" /db_xref="CDD:214592" CDS 1..376 /gene="ACTRT1" /gene_synonym="AIP1; ARIP1; ARPT1; HSD27" /coded_by="NM_138289.4:198..1328" /db_xref="CCDS:CCDS14611.1" /db_xref="GeneID:139741" /db_xref="HGNC:HGNC:24027" /db_xref="MIM:300487" ORIGIN 1 mfnphaldvp avifdngsgl ckaglsgeig prhvissvlg hckfnvplar lnqkyfvgqe 61 alykyealhl hypierglvt gwddmeklwk hlferelgvk psqqpvlmte pslnpreire 121 klaemmfetf svpgfylsnh avaalyasac vtglvvdsgd gvtctvpife gyslphavtk 181 lcmagrdite hltrllfasg fnfpcilnka vvnnikeklc yialepekel rksrgevlga 241 yrlpdghvih fgdelyqvpe vlfapdqlgi hspglskmvs ssimkcdtdi qnklyadivl 301 sggttllpgl eerlmkeveq laskgtpiki taspdrcfsa wigasimtsm ssfkqmwvts 361 adfkeygtsv vqrrcf // LOCUS NP_001365113 332 aa linear PRI 13-MAY-2020 DEFINITION IQ domain-containing protein M isoform 6 [Homo sapiens]. ACCESSION NP_001365113 XP_024310084 VERSION NP_001365113.1 DBSOURCE REFSEQ: accession NM_001378184.1 KEYWORDS RefSeq. SOURCE Homo 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC096756.3, AC093893.2, AC027058.9 and AC108168.4. On Jan 30, 2020 this sequence version replaced XP_024310084.1. 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 :: SRR5189667.222896.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..332 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q31.23" Protein 1..332 /product="IQ domain-containing protein M isoform 6" /note="iQ domain-containing protein M" /calculated_mol_wt=39690 CDS 1..332 /gene="IQCM" /coded_by="NM_001378184.1:602..1600" /note="isoform 6 is encoded by transcript variant 9" /db_xref="GeneID:285423" /db_xref="HGNC:HGNC:53443" ORIGIN 1 mqahrsnykr nrmlellypf pvhlylqpgt snlellkepd kafydwrgfv ltrsfrlacd 61 srrvsfsqss sifrdyyskt fktlikkerq pikpepksqp rikgtpnktd kldskvkrig 121 phieifqvfr erkkfmitpk lirmvtvmqa hvrgwlerkr lqrvmtkald hgpdmkavin 181 mygrlihrvr yrrglwrtrq ilnlaeleew mdrkkfyeim fakredwpki ernelpnffs 241 dcghfptqkq vddtwdlvhq dgkekyseli kkskaiemlf tlyppegahv pdstllkstw 301 lrpivngeeg yryivfhlkl segdlylfvf vv // LOCUS NP_001365116 154 aa linear PRI 13-MAY-2020 DEFINITION IQ domain-containing protein M isoform 7 [Homo sapiens]. ACCESSION NP_001365116 VERSION NP_001365116.1 DBSOURCE REFSEQ: accession NM_001378187.1 KEYWORDS RefSeq. SOURCE Homo 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC096756.3 and AC093893.2. 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 :: SRR5189667.359583.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..154 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q31.23" Protein 1..154 /product="IQ domain-containing protein M isoform 7" /note="iQ domain-containing protein M" /calculated_mol_wt=18179 CDS 1..154 /gene="IQCM" /coded_by="NM_001378187.1:425..889" /note="isoform 7 is encoded by transcript variant 12" /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 rpidlitkgl sqtwtedrkt ylqirathyw shlp // LOCUS NP_001369433 265 aa linear PRI 18-MAY-2020 DEFINITION speedy/RINGO cell cycle regulator family member E10, pseudogene [Homo sapiens]. ACCESSION NP_001369433 VERSION NP_001369433.1 DBSOURCE REFSEQ: accession NM_001382504.1 KEYWORDS RefSeq. SOURCE Homo 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) CONSRTM Sanger Center; Genome Sequencing Center TITLE Toward a complete human genome sequence JOURNAL Genome Res. 8 (11), 1097-1108 (1998) PUBMED 9847074 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC211491.5 and AC211476.5. 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 :: SRR1803617.156133.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..265 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q11.23" Protein 1..265 /product="speedy/RINGO cell cycle regulator family member E10, pseudogene" /note="Williams Beuren syndrome chromosome region 19 pseudogene; speedy/RINGO cell cycle regulator family member E1 pseudogene; speedy homolog E1 pseudogene" /calculated_mol_wt=31310 Region 110..261 /region_name="Spy1" /note="Cell cycle regulatory protein; pfam11357" /db_xref="CDD:371488" CDS 1..265 /gene="SPDYE10P" /coded_by="NM_001382504.1:1156..1953" /db_xref="GeneID:643862" /db_xref="HGNC:HGNC:51506" ORIGIN 1 mgqilgkimm shqpqpqeer spqrstsgyp lqevvddevs gpsapgvdps pprrslgwkr 61 krecldesdd epekelapep eetwvaetlc glkmkakrrr vslvlpeyye afnrlledpv 121 ikrllawdkd lrvsdkylla mviayfsrag lpswqyqrih fflalyland meeddeapkq 181 nifyflyeet rshipllsel wfqlcrymnp rarkncsqia lfrkyrfhff csmrcrawvs 241 leeleeiqay dpehwvward rahls // LOCUS NP_001355166 124 aa linear PRI 18-MAY-2020 DEFINITION tP53-target gene 3 protein [Homo sapiens]. ACCESSION NP_001355166 XP_006724968 VERSION NP_001355166.1 DBSOURCE REFSEQ: accession NM_001368237.1 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 124) AUTHORS Ng CC, Koyama K, Okamura S, Kondoh H, Takei Y and Nakamura Y. TITLE Isolation and characterization of a novel TP53-inducible gene, TP53TG3 JOURNAL Genes Chromosomes Cancer 26 (4), 329-335 (1999) PUBMED 10534768 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC133551.3. On Jan 31, 2019 this sequence version replaced XP_006724968.1. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. ##Evidence-Data-START## Transcript exon combination :: SRR7410570.623998.1, SRR5189667.52603.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on computational evidence ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..124 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16" Protein 1..124 /product="tP53-target gene 3 protein" /note="TP53-inducible gene 3 protein" /calculated_mol_wt=12697 CDS 1..124 /gene="LOC102723655" /gene_synonym="TP53TG3; TP53TG3B; TP53TG3C; TP53TG3D; TP53TG3E; TP53TG3F" /coded_by="NM_001368237.1:31..405" /db_xref="GeneID:102723655" ORIGIN 1 mraspcisqp aaswhprpsa lrptagsgpd trtpgtvedg sapcpafrsp avspcgeepc 61 cfqispaeet lelgrlvspg ncdtlspraa gfyachvrsl ipcrstkgrw pltasaagls 121 sfsg // LOCUS NP_001026786 385 aa linear PRI 24-MAY-2020 DEFINITION aldehyde dehydrogenase family 3 member B2 [Homo sapiens]. ACCESSION NP_001026786 VERSION NP_001026786.2 DBSOURCE REFSEQ: accession NM_001031615.2 KEYWORDS RefSeq. SOURCE Homo 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 Michorowska S, Giebultowicz J, Wolinowska R, Konopka A, Wilkaniec A, Krajewski P, Bulska E and Wroczynski P. TITLE Detection of ALDH3B2 in Human Placenta JOURNAL Int J Mol Sci 20 (24), E6292 (2019) PUBMED 31847104 REMARK GeneRIF: Despite premature stop codon in DNA and mRNA sequences, full-length ALDH3B2 was found. It can be formed as a result of premature stop codon readthrough, complex phenomenon enabling stop codon circumvention. Publication Status: Online-Only REFERENCE 2 (residues 1 to 385) AUTHORS Laqqan M, Tierling S, Alkhaled Y, Lo Porto C, Solomayer EF and Hammadeh M. TITLE Spermatozoa from males with reduced fecundity exhibit differential DNA methylation patterns JOURNAL Andrology 5 (5), 971-978 (2017) PUBMED 28544631 REFERENCE 3 (residues 1 to 385) AUTHORS Kitamura T, Takagi S, Naganuma T and Kihara A. TITLE Mouse aldehyde dehydrogenase ALDH3B2 is localized to lipid droplets via two C-terminal tryptophan residues and lipid modification JOURNAL Biochem. J. 465 (1), 79-87 (2015) PUBMED 25286108 REFERENCE 4 (residues 1 to 385) 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 385) AUTHORS Saito A, Kawamoto M and Kamatani N. TITLE Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects JOURNAL J. Hum. Genet. 54 (6), 317-323 (2009) PUBMED 19343046 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 6 (residues 1 to 385) AUTHORS Hsu LC, Chang WC and Yoshida A. TITLE Human aldehyde dehydrogenase genes, ALDH7 and ALDH8: genomic organization and gene structure comparison JOURNAL Gene 189 (1), 89-94 (1997) PUBMED 9161417 REFERENCE 7 (residues 1 to 385) AUTHORS Hsu LC and Chang WC. TITLE Sequencing and expression of the human ALDH8 encoding a new member of the aldehyde dehydrogenase family JOURNAL Gene 174 (2), 319-322 (1996) PUBMED 8890755 REFERENCE 8 (residues 1 to 385) AUTHORS Hsu LC, Chang WC, Lin SW and Yoshida A. TITLE Cloning and characterization of genes encoding four additional human aldehyde dehydrogenase isozymes JOURNAL Adv. Exp. Med. Biol. 372, 159-168 (1995) PUBMED 7484374 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA850267.1, BC007685.2, AP003385.2, AK092464.1 and BG009508.1. This sequence is a reference standard in the RefSeqGene project. On Aug 10, 2017 this sequence version replaced NP_001026786.1. Summary: This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity. [provided by RefSeq, Aug 2017]. Transcript Variant: This variant (2) represents the shorter transcript. Both variant 1 and 2 encode the same protein. ##Evidence-Data-START## Transcript exon combination :: BC007685.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2144335 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..385 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11q13.2" Protein 1..385 /product="aldehyde dehydrogenase family 3 member B2" /EC_number="1.2.1.3" /note="aldehyde dehydrogenase 8; acetaldehyde dehydrogenase 8" /calculated_mol_wt=42474 mat_peptide 1..382 /product="Aldehyde dehydrogenase family 3 member B2. /id=PRO_0000056484" /note="propagated from UniProtKB/Swiss-Prot (P48448.3)" /calculated_mol_wt=42278 Region 1..366 /region_name="ALDH-SF" /note="NAD(P)+-dependent aldehyde dehydrogenase superfamily; cl11961" /db_xref="CDD:325143" Site order(30..34,42,57,59..60,105..108,111,114..115,129..131, 163,253,255,281,321) /site_type="other" /note="NAD(P) binding site [chemical binding]" /db_xref="CDD:143395" Site order(34,129,160,163) /site_type="active" /note="catalytic residues [active]" /db_xref="CDD:143395" Site 382 /site_type="methylation" /note="Cysteine methyl ester. /evidence=ECO:0000250|UniProtKB:E9Q3E1; propagated from UniProtKB/Swiss-Prot (P48448.3)" CDS 1..385 /gene="ALDH3B2" /gene_synonym="ALDH8" /coded_by="NM_001031615.2:294..1451" /db_xref="CCDS:CCDS31622.1" /db_xref="GeneID:222" /db_xref="HGNC:HGNC:411" /db_xref="MIM:601917" ORIGIN 1 mkdeprstnl fmkldsvfiw kepfglvlii apwnyplnlt lvllvgalaa gscvvlkpse 61 isqgtekvla evlpqyldqs cfavvlggpq etgqllehkl dyifftgspr vgkivmtaat 121 khltpvtlel ggknpcyvdd ncdpqtvanr vawfcyfnag qtcvapdyvl cspemqerll 181 palqstitrf ygddpqsspn lghiinqkqf qrlrallgcg rvaiggqsne sdryiaptvl 241 vdvqetepvm qeeifgpilp ivnvqsvdea ikfinrqekp lalyafsnss qvvnqmlert 301 ssgsfggneg ftyisllsvp fggvghsgmg ryhgkftfdt fshhrtclla psgleklkei 361 hyppytdwnq qllrwgmgsq sctll // LOCUS NP_001139661 1815 aa linear PRI 18-JUN-2020 DEFINITION zinc finger protein 407 isoform 2 [Homo sapiens]. ACCESSION NP_001139661 VERSION NP_001139661.1 DBSOURCE REFSEQ: accession NM_001146189.1 KEYWORDS RefSeq. SOURCE Homo 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 Tan X, Chen S, Wu J, Lin J, Pan C, Ying X, Pan Z, Qiu L, Liu R, Geng R and Huang W. TITLE PI3K/AKT-mediated upregulation of WDR5 promotes colorectal cancer metastasis by directly targeting ZNF407 JOURNAL Cell Death Dis 8 (3), e2686 (2017) PUBMED 28300833 REMARK GeneRIF: WDR5 shows a direct binding to the ZNF407 promoter. Publication Status: Online-Only REFERENCE 2 (residues 1 to 1815) 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 3 (residues 1 to 1815) AUTHORS Ren CM, Liang Y, Wei F, Zhang YN, Zhong SQ, Gu H, Dong XS, Huang YY, Ke H, Son XM, Tang D and Chen Z. TITLE Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism JOURNAL Biochim. Biophys. Acta 1832 (3), 431-438 (2013) PUBMED 23195952 REMARK GeneRIF: Data indicate that mutations in the ZNF407 gene contribute to the pathogenesis of a group of intellectual disability (ID) patients with autism. REFERENCE 4 (residues 1 to 1815) 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 5 (residues 1 to 1815) 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 1815) AUTHORS McDonough CW, Bostrom MA, Lu L, Hicks PJ, Langefeld CD, Divers J, Mychaleckyj JC, Freedman BI and Bowden DW. TITLE Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping JOURNAL Hum. Genet. 126 (6), 805-817 (2009) PUBMED 19690890 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 7 (residues 1 to 1815) 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 REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK056288.1, AC138660.6, AK000314.1, AB051490.1 and DB096147.1. Summary: This gene encodes a zinc finger protein whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. Transcript Variant: This variant (2) is missing the 3' terminal exon, and contains an alternate segment at the 3' end compared to variant 1. This results in a shorter isoform (2) with a distinct C-terminus compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: AK000314.1, SRR1803616.457988.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1815 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="18" /map="18q22.3" Protein 1..1815 /product="zinc finger protein 407 isoform 2" /calculated_mol_wt=202288 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" Site order(193,195,197,199..200,203..204,207,223,228..229, 232..233,237,251,253,255..256,261..262,267) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 217..238 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(217,220,233,238) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 246..268 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(246,249,262,268) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site 1262 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163, ECO:0000244|PubMed:24275569; propagated from UniProtKB/Swiss-Prot (Q9C0G0.2)" Region 1416..1445 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275371" Site order(1416,1419,1432,1445) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275371" Site order(1423..1425,1427..1428,1432,1437,1451,1454..1458, 1460..1461) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275371" Region 1446..1468 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275371" Site order(1446,1449,1462,1468) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275371" Region 1539..1561 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1539,1542,1557,1561) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 1557..1578 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 1569..1589 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1569,1572,1585,1589) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 1597..1617 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1597,1600,1613,1617) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 1630..1650 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1630,1633,1646,1650) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(1635,1637,1639,1641..1642,1645..1646,1649,1665,1667, 1671..1672,1675..1676,1679,1693,1695,1697,1699..1700, 1703..1704,1707) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 1642..1669 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 1658..1680 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1658,1663,1676,1680) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 1688..1708 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1688,1691,1704,1708) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 1700..1725 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 1716..1736 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1716,1719,1732,1736) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 1728..1753 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 1744..1761 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" CDS 1..1815 /gene="ZNF407" /coded_by="NM_001146189.1:58..5505" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS58634.1" /db_xref="GeneID:55628" /db_xref="HGNC:HGNC:19904" /db_xref="MIM:615894" ORIGIN 1 mmdsenkpen dedekinkea qdltklsshn edggpvsdvi asfpensmgk rgfsessnsd 61 svvigedrnk haskrrklde aeplksgkqg icrletsess vteggialde tgketflsdc 121 tvggtclpna lspscnfsti dvvslktdte ktsaqemvsl dlerespfpp keisvsctig 181 nvdtvlkcsi cghlfsscsd lekhaeshmq qpkehtcchc shkaesssal hmhikqahgp 241 qkvfscdlcg fqcseenlln ahylgkthlr rqnlaarggf vqiltkqpfp kksrtmatkn 301 vhskprtsks iaknsdskgl rnvgstfkdf rgsiskqsgs ssellvemmp srntlsqeve 361 iveehvtslg laqnpenqsr kldtlvtseg lleklestkn tlqaahgnsv tsrprperni 421 lvlgnsfrrr sstftlkgqa kkrfnllgik rgtsetqrmy mkhlrtqmkt hdaesvlkhl 481 eacssvqrvc vttsetqeae qgqgsarppd sglhsltvkp asgsqtlcac tdcgqvatnr 541 tdleihvkrc haremkfycr tcdfssmsrr dldehlhsnq hqqtasvlsc qccsfislde 601 inlrdhmkek hnmhflctpc nlfflsekdv eehkatekhi nslvqpktlq ssnsdlvlqt 661 lplstlesen akesmddsgk asqeeplksr vshgnevrhs skpqfqckkc fyktrsstvl 721 trhiklrhgq dyhflckacn lyslskegme khikrskhle nakknnigls feeciervci 781 gandkkeefd vsgngriegh igvqlqehsy lekgmlasee lsqsggstkd delastttpk 841 rgrpkgnisr tcshcgllas sitnltvhir rkhshqysyl ckvckyytvt kgdmerhcat 901 kkhkgrveie asgkhssdii vgpeggslea gkknagsavt msdehankpa esptsvlekp 961 drgnsieaev envfhsldge vnshlldkke qissepedfa qpgdvysqrd vtgtgenkcl 1021 hcefsahssa slelhvkrkh tkefefycma cdyyavtrre mtrhaatekh kmkrqsylns 1081 anveagsadm skniimpeee hqqnseefqi isgqpsdtlk srnaadcsil nentnldmsk 1141 vlcaadsvev eteeesnfne dhsfcetfqq apvkdkvrkp eemmsltmss nygspsrfqn 1201 ensgssalnc etakknheis ndagelrvhc egeggnagdg ggvvphrhlc pvtldgersa 1261 espvlvvtri treqgnlesg gqnrvarghg ledlkgvqed pvlgnkeilm nsqhetefil 1321 eedgpasdst vessdvyeti isiddkgqam ysfgrfdssi iriknpedge lidqseegli 1381 atgvriselp lkdcaqgvkk kksegssige strircddcg fladglsgln vhiamkhptk 1441 ekhfhcllcg ksfytesnlh qhlasaghmr neqasveelp eggatfkcvk ctepfdseqn 1501 lflhikgqhe ellrevnkyi vedteqinre reenqgnvck ycgkmcrssn smaflahirt 1561 htgskpfkck ichfataqlg darnhvkrhl gmreykchvc gvafvmkkhl nthllgkhgv 1621 gtpkerkftc hlcdrsftek walnnhmklh tgekpfkctw ptchysflta samkdhyrth 1681 tgeksflcdl cgfaggtrha ltkhrrqhtg ekpfkcdecn fasttqshlt rhkrvhtgek 1741 pyrcpwcdyr sncaenirkh ilhtgkhegv kmyncpkcdy gtnvpvefrn hlkeqhpdie 1801 npdlaylhag kgqkl // LOCUS NP_001004134 317 aa linear PRI 19-JUN-2020 DEFINITION olfactory receptor 10AD1 [Homo sapiens]. ACCESSION NP_001004134 XP_062553 VERSION NP_001004134.1 DBSOURCE REFSEQ: accession NM_001004134.1 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 317) 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 317) 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 AB065872.1. On Sep 9, 2004 this sequence version replaced XP_062553.2. 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## 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="12q13.11" Protein 1..317 /product="olfactory receptor 10AD1" /note="olfactory receptor, family 10, subfamily AD, member 1 pseudogene; olfactory receptor OR12-1" /calculated_mol_wt=35567 Site 4 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGE0.1)" Site 26..46 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE0.1)" Region 35..306 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 42..291 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 56..76 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE0.1)" Site 101..121 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE0.1)" Site 141..161 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE0.1)" Site 199..218 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE0.1)" Site 239..259 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE0.1)" Site 273..293 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE0.1)" CDS 1..317 /gene="OR10AD1" /gene_synonym="OR10AD1P; OR12-1" /coded_by="NM_001004134.1:1..954" /db_xref="CCDS:CCDS31787.1" /db_xref="GeneID:121275" /db_xref="HGNC:HGNC:14819" ORIGIN 1 mlrngsivte filvgfqqss tstrallfal flalysltma mngliifits wtdpklnspm 61 yfflghlsll dvcfitttip qmlihlvvrd hivsfvccmt qmyfvfcvgv aecillafma 121 ydryvaicyp lnyvpiisqk vcvrlvgtaw ffglingifl eyisfrepfr rdnhiesffc 181 eapiviglsc gdpqfslwai fadaivvils pmvltvtsyv hilatilska sssgrgktfs 241 tcashltvvi flytsamfsy mnphsthgpd kdkpfsllyt iitpmcnpii ysfrnkeike 301 amvralgrtr laqpqsv // LOCUS NP_001181966 904 aa linear PRI 19-JUN-2020 DEFINITION epithelial cell-transforming sequence 2 oncogene-like [Homo sapiens]. ACCESSION NP_001181966 VERSION NP_001181966.1 DBSOURCE REFSEQ: accession NM_001195037.2 KEYWORDS RefSeq. SOURCE Homo 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 Rose JE, Behm FM, Drgon T, Johnson C and Uhl GR. TITLE Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score JOURNAL Mol. Med. 16 (7-8), 247-253 (2010) PUBMED 20379614 REMARK GeneRIF: Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) Erratum:[Mol Med. 2012;18(1):729] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DC416153.1, DC418522.1, BC146884.1 and DQ904331.1. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein. ##Evidence-Data-START## CDS exon combination :: BC146884.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA2144333, SAMEA2158569 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..904 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6q24.1" Protein 1..904 /product="epithelial cell-transforming sequence 2 oncogene-like" /note="ECT2-like; lung specific F-box and DH domain containing protein; putative guanine nucleotide exchange factor LFDH; F-box protein 49" /calculated_mol_wt=104749 Region 81..118 /region_name="F-box-like" /note="F-box-like; pfam12937" /db_xref="CDD:315592" Region 292..459 /region_name="DUF4347" /note="Domain of unknown function (DUF4347); pfam14252" /db_xref="CDD:316745" Region 570..752 /region_name="RhoGEF" /note="RhoGEF domain; pfam00621" /db_xref="CDD:306973" Site order(573,577,675,703..704,707..708,710..711,714..715, 718..719,722,748,752) /site_type="other" /note="GTPase interaction site [polypeptide binding]" /db_xref="CDD:238091" Region <810..904 /region_name="PH-like" /note="Pleckstrin homology-like domain; cl17171" /db_xref="CDD:327399" CDS 1..904 /gene="ECT2L" /gene_synonym="ARHGEF32; C6orf91; dJ509I19.2; dJ509I19.3; dJ509I19.5; FBXO49; LFDH" /coded_by="NM_001195037.2:186..2900" /db_xref="CCDS:CCDS43508.1" /db_xref="GeneID:345930" /db_xref="HGNC:HGNC:21118" ORIGIN 1 mesfhtrfsa wtpfsnksln rqlfqerval ishwfdlwtn kqrqeflfai flrctksqlr 61 fvqdwfserm qvakvdfstv lprfislyif sflspkdlca aaqvswpwkf lteqdclwmp 121 kcvkfgwflp ytptdneyga wkrhyiacvs hldwltprea aatygtlnep ktedeeller 181 qrekclrkri wekialrkke lfkvrppwvs gtccssvlkp rcqprlsqtv rervglheal 241 ekqlvltsle tlpkrsnisg shsypllskk nwhgvhkndd rssyalrphf mlissripay 301 emvmesvkag vvsvvyehsv tlesllylie kaldgqkaqs igifsdgdsr einllqgyki 361 gvknllrpev rdfweklgsy vateeegghv dffvplgase agievlsqls qltgtfftap 421 tgiatgsyqh ilsdwlgsqw gkapssiyfc esklqtwssf tdfleetlkt vrkqlypffk 481 elqksisgrm igqfmfdtmg mtnilnnqdt aqaladglme lskedsernv vednswdtks 541 rlskndlnfe alinlerilq kdsaekrarv vrellqserk yvqileivrd vyvaplkaal 601 ssnrailsaa niqiifcdil qilslnrqfl dnlrdrlqew gpahcvgeiv tkfgsqlnty 661 tnffnnypvi lktiekcrem ipafrtflkr hdktivtkml slpelllyps rrfeeylnll 721 yavrlhtpae hvdrgdltta idqikkykgy idqmkqnitm kdhlsdiqri iwgcptlsev 781 nrylirvqdv aqlhccdeei sfslrlyehi hdlslflfnd allvssrgts htpfertskt 841 tyqfiasval hrllienipd skyvknafil qgpkykwica teieddkflw lsvlrnaiks 901 smek // LOCUS NP_001154819 572 aa linear PRI 19-JUN-2020 DEFINITION E3 ubiquitin-protein ligase CHFR isoform 5 [Homo sapiens]. ACCESSION NP_001154819 VERSION NP_001154819.1 DBSOURCE REFSEQ: accession NM_001161347.1 KEYWORDS RefSeq. SOURCE Homo 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 Cha Y, Kim SY, Yeo HY, Baek JY, Choi MK, Jung KH, Dong SM and Chang HJ. TITLE Association of CHFR Promoter Methylation with Treatment Outcomes of Irinotecan-Based Chemotherapy in Metastatic Colorectal Cancer JOURNAL Neoplasia 21 (1), 146-155 (2019) PUBMED 30562637 REMARK GeneRIF: These data suggest that CHFR methylation may be associated with favorable treatment outcomes of irinotecan-based chemotherapy in patients with metastatic colorectal cancer. REFERENCE 2 (residues 1 to 572) AUTHORS Woo SR, Lee HJ, Oh SJ, Kim S, Park SH, Lee J, Song KH and Kim TW. TITLE Stabilization of HDAC1 via TCL1-pAKT-CHFR axis is a key element for NANOG-mediated multi-resistance and stem-like phenotype in immune-edited tumor cells JOURNAL Biochem. Biophys. Res. Commun. 503 (3), 1812-1818 (2018) PUBMED 30060952 REMARK GeneRIF: The results establish a firm molecular link in immune-edited tumor cells among NANOG, AKT, CHFR, and HDAC1, identifying HDAC1 as a molecular target in controlling NANOGHIGH immune-refractory cancer. REFERENCE 3 (residues 1 to 572) AUTHORS Zhou JD, Zhang TJ, Li XX, Ma JC, Guo H, Wen XM, Yao DM, Zhang W, Lin J and Qian J. TITLE Methylation-independent CHFR expression is a potential biomarker affecting prognosis in acute myeloid leukemia JOURNAL J. Cell. Physiol. 233 (6), 4707-4714 (2018) PUBMED 29115660 REMARK GeneRIF: Lower CHFR expression was independently associated with unfavorable prognosis in acute myeloid leukemia. Moreover, aberrant CHFR promoter methylation was a rare event in myeloid malignances. REFERENCE 4 (residues 1 to 572) AUTHORS Castellano L, Dabrowska A, Pellegrino L, Ottaviani S, Cathcart P, Frampton AE, Krell J and Stebbing J. TITLE Sustained expression of miR-26a promotes chromosomal instability and tumorigenesis through regulation of CHFR JOURNAL Nucleic Acids Res. 45 (8), 4401-4412 (2017) PUBMED 28126920 REMARK GeneRIF: Re-expression of CHFR in miR-26a overexpressing cells partially rescues normal mitosis and impairs the tumorigenesis exerted by miR-26a. REFERENCE 5 (residues 1 to 572) AUTHORS Kim M, Kwon YE, Song JO, Bae SJ and Seol JH. TITLE CHFR negatively regulates SIRT1 activity upon oxidative stress JOURNAL Sci Rep 6, 37578 (2016) PUBMED 27883020 REMARK GeneRIF: JNK inhibitor prevents SIRT1 phosphorylation, leading to elevated SIRT1 protein levels even in the presence of H2O2. Taken together, our results indicate that CHFR plays a crucial role in the cellular stress response pathway by controlling the stability and function of SIRT1. Publication Status: Online-Only REFERENCE 6 (residues 1 to 572) AUTHORS Sanbhnani S and Yeong FM. TITLE CHFR: a key checkpoint component implicated in a wide range of cancers JOURNAL Cell. Mol. Life Sci. 69 (10), 1669-1687 (2012) PUBMED 22159584 REMARK GeneRIF: CHFR is thought to contribute towards regulating mitotic entry and possible explanations for contradictory observations published on the functions and regulation of CHFR are presented. [review] Review article REFERENCE 7 (residues 1 to 572) AUTHORS Mizuno K, Osada H, Konishi H, Tatematsu Y, Yatabe Y, Mitsudomi T, Fujii Y and Takahashi T. TITLE Aberrant hypermethylation of the CHFR prophase checkpoint gene in human lung cancers JOURNAL Oncogene 21 (15), 2328-2333 (2002) PUBMED 11948416 REFERENCE 8 (residues 1 to 572) AUTHORS Chaturvedi P, Sudakin V, Bobiak ML, Fisher PW, Mattern MR, Jablonski SA, Hurle MR, Zhu Y, Yen TJ and Zhou BB. TITLE Chfr regulates a mitotic stress pathway through its RING-finger domain with ubiquitin ligase activity JOURNAL Cancer Res. 62 (6), 1797-1801 (2002) PUBMED 11912157 REMARK GeneRIF: Chfr regulates a mitotic stress pathway through its RING-finger domain with ubiquitin ligase activity. REFERENCE 9 (residues 1 to 572) AUTHORS Kang D, Chen J, Wong J and Fang G. TITLE The checkpoint protein Chfr is a ligase that ubiquitinates Plk1 and inhibits Cdc2 at the G2 to M transition JOURNAL J. Cell Biol. 156 (2), 249-259 (2002) PUBMED 11807090 REMARK GeneRIF: checkpoint protein Chfr is a ligase that ubiquitinates Plk1 and inhibits Cdc2 at the G2 to M transition REFERENCE 10 (residues 1 to 572) AUTHORS Scolnick DM and Halazonetis TD. TITLE Chfr defines a mitotic stress checkpoint that delays entry into metaphase JOURNAL Nature 406 (6794), 430-435 (2000) PUBMED 10935642 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP313700.1, AK302785.1, AK027687.1, AC127070.10 and BC012072.1. Summary: This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK302785.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..572 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q24.33" Protein 1..572 /product="E3 ubiquitin-protein ligase CHFR isoform 5" /EC_number="2.3.2.27" /note="RING finger protein 196; checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase; RING-type E3 ubiquitin transferase CHFR" /calculated_mol_wt=63743 Region 16..105 /region_name="FHA" /note="Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins...; cd00060" /db_xref="CDD:238017" Region <31..134 /region_name="FHA" /note="Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]; COG1716" /db_xref="CDD:224630" Site order(42,55,57..58,79..81) /site_type="other" /note="phosphopeptide binding site" /db_xref="CDD:238017" Region 211..254 /region_name="RING" /note="RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in...; cd00162" /db_xref="CDD:238093" Site order(212,215,228,230,233,236,247,250) /site_type="other" /note="cross-brace motif" /db_xref="CDD:238093" CDS 1..572 /gene="CHFR" /gene_synonym="RNF116; RNF196" /coded_by="NM_001161347.1:85..1803" /note="isoform 5 is encoded by transcript variant 5" /db_xref="CCDS:CCDS53847.1" /db_xref="GeneID:55743" /db_xref="HGNC:HGNC:20455" /db_xref="MIM:605209" ORIGIN 1 merpeegkqs pppqpwgrll rlgaeegeph vllrkrewti grrrgcdlsf psnklvsgdh 61 crivvdeksg qvtledtsts gtvinklkvv kkqtcplqtg dviylvyrkn epehrsgggg 121 ispkgsgpsv asdevssfas alpdrktasf sslepqdqed lepvkkkmrg dgdldlngql 181 lvaqprrnaq tvhedvraaa gkpdkmeetl tciicqdllh dcvslqpcmh tfcaacysgw 241 mersslcptc rcpverickn hilnnlveay liqhpdksrs eedvqsmdar nkitqdmlqp 301 kvrrsfsdee gssedllels dvdsessdis qpyvvcrqcp eyrrqaaqpp hcpapegepg 361 apqalgdaps tsvslttavq dyvcplqgsh alctccfqpm pdrraereqd prvapqqcav 421 clqpfchlyw gctrtgcygc lapfcelnlg dkcldgvlnn nsyesdilkn ylatrgltwk 481 nmlteslval qrgvfllsdy rvtgdtvlcy ccglrsfrel tyqyrqnipa selpvavtsr 541 pdcywgrncr tqvkahhamk fnhiceqtrf kn // LOCUS NP_997297 1318 aa linear PRI 19-JUN-2020 DEFINITION maestro heat-like repeat family member 5 [Homo sapiens]. ACCESSION NP_997297 XP_945460 VERSION NP_997297.2 DBSOURCE REFSEQ: accession NM_207414.2 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 1318) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK125848.1, DB063153.1, AC138647.6, DB070296.1, AK131461.1, AC100803.11 and DN831584.1. On Jun 8, 2007 this sequence version replaced NP_997297.1. Transcript Variant: This variant (1, coding) differs at a polymorphic nucleotide compared to the reference genome sequence and represents the protein coding allele. ##Evidence-Data-START## Transcript exon combination :: AK125848.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2148093 [ECO:0000350] ##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..1318 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="8" /map="8q24.3" Protein 1..1318 /product="maestro heat-like repeat family member 5" /calculated_mol_wt=148961 Region 581..618 /region_name="HEAT 1" /note="propagated from UniProtKB/Swiss-Prot (Q6ZUA9.2)" Region 769..811 /region_name="HEAT 2" /note="propagated from UniProtKB/Swiss-Prot (Q6ZUA9.2)" Region 840..880 /region_name="HEAT 3" /note="propagated from UniProtKB/Swiss-Prot (Q6ZUA9.2)" Region 996..1033 /region_name="HEAT 4" /note="propagated from UniProtKB/Swiss-Prot (Q6ZUA9.2)" Region 1037..1074 /region_name="HEAT 5" /note="propagated from UniProtKB/Swiss-Prot (Q6ZUA9.2)" Region 1076..1113 /region_name="HEAT 6" /note="propagated from UniProtKB/Swiss-Prot (Q6ZUA9.2)" Region 1118..1155 /region_name="HEAT 7" /note="propagated from UniProtKB/Swiss-Prot (Q6ZUA9.2)" Region 1164..1200 /region_name="HEAT 8" /note="propagated from UniProtKB/Swiss-Prot (Q6ZUA9.2)" Region 1278..1315 /region_name="HEAT 9" /note="propagated from UniProtKB/Swiss-Prot (Q6ZUA9.2)" CDS 1..1318 /gene="MROH5" /coded_by="NM_207414.2:82..4038" /db_xref="GeneID:389690" /db_xref="HGNC:HGNC:42976" ORIGIN 1 mdrqcserpy sctptgrvss avsqnsrisp pvstsmkdss cmkvhqdsar rdrwshptti 61 llhksqssqa tlmlqehrmf mgeaysaatg fkmlqdmnsa dpfhlkyiik kiknmahgsp 121 klvmetihdy fidnpeissr hkfrlfqtle mvigasdvle etwektftrl alenmtkate 181 lediyqdaas nmlvaicrhs wrvvaqhlet elltgvfphr sllyvmgvls sseelfsqed 241 kacweeqliq maiksvpfls tdvwskellw tlttpswtqq eqspekaflf tyyglilqae 301 kngatvrrhl qalletshqw pkqregmalt lglaatrhld dvwavldqfg rsrpirwslp 361 ssspknsedl rwkwasstil laygqvaaka rahilpwvdn ivsrmvfyfh ysswdetlkq 421 sfltatlmlm gavsrsegah syeffqtsel lqclmvlmek epqdtlctrs rqqamhiass 481 lcklrppidl erksqllstc frsvfalpll dalekhtclf leppniqlwp vareragwth 541 qgwgpravlh csehlqslys rtmealdfml qslimqnpta delhfllshl yiwlasekah 601 erqravhscm illkflnhng yldpkedfkr igqlvgilgm lcqdpdratq rcslegashl 661 yqllmchktg ealqaesqap kelsqahsdg aplwnsrdqk atplgpqema knhifqlcsf 721 qvikdimqql tlaelsdliw taidglgsts pfrvqaasem lltavqehga kleivssmaq 781 airlrlcsvh ipqakektlh aitllarsht celvatflni sipldshtfq lwralgagqp 841 tshlvlttll aclqerplpt gasdsspcpk ektylrllaa mnmlhelqfa refkqavqeg 901 ypklflallt qmhyvlelnl psepqpkqqa qeaavpspqs cstslealks llsttghwhd 961 fahlelqgsw elfttihtyp kgvgllaram vqnhcrqipa vlrqllpslq spqererkva 1021 ililtkflys pvllevlpkq aaltvlaqgl hdpspevrvl slqglsnilf hpdkgsllqg 1081 qlrplldgff qssdqvivci mgtvsdtlhr lgaqgtgsqs lgvaistrsf fnderdgira 1141 aamalfgdlv aamadrelsg lrtqvhqsmv plllhlkdqc pavatqakft fyrcavllrw 1201 rllhtlfctl awerglsarh flwtclmtrs qeefsihlsq alsylhshsc hiktwvtlfi 1261 ghticyhpqa vfqmlnavdt nllfrtfehl rsdpepsire fatsqlsflq kvsarpkq // LOCUS NP_036328 116 aa linear PRI 19-JUN-2020 DEFINITION G antigen 2D [Homo sapiens]. ACCESSION NP_036328 VERSION NP_036328.1 DBSOURCE REFSEQ: accession NM_012196.1 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 116) 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 2 (residues 1 to 116) 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 116) AUTHORS De Backer O, Arden KC, Boretti M, Vantomme V, De Smet C, Czekay S, Viars CS, De Plaen E, Brasseur F, Chomez P, Van den Eynde B, Boon T and van der Bruggen P. TITLE Characterization of the GAGE genes that are expressed in various human cancers and in normal testis JOURNAL Cancer Res. 59 (13), 3157-3165 (1999) PUBMED 10397259 REFERENCE 4 (residues 1 to 116) AUTHORS Chen ME, Lin SH, Chung LW and Sikes RA. TITLE Isolation and characterization of PAGE-1 and GAGE-7. New genes expressed in the LNCaP prostate cancer progression model that share homology with melanoma-associated antigens JOURNAL J. Biol. Chem. 273 (28), 17618-17625 (1998) PUBMED 9651357 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF055473.1. On or before May 20, 2006 this sequence version replaced XP_939248.1, XP_939249.1, XP_939252.1, XP_935084.1. Summary: This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF055473.1 [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..116 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xp11" Protein 1..116 /product="G antigen 2D" /note="cancer/testis antigen family 4, member 8; cancer/testis antigen 4.8" /calculated_mol_wt=12632 Region 1..110 /region_name="GAGE" /note="GAGE protein; pfam05831" /db_xref="CDD:310430" Region 9..16 /region_name="antigenic peptide" CDS 1..116 /gene="GAGE8" /gene_synonym="CT4.8; GAGE-8" /coded_by="NM_012196.1:73..423" /db_xref="GeneID:100101629" /db_xref="HGNC:HGNC:4106" /db_xref="MIM:300638" ORIGIN 1 mswrgrstyr prprryvepp emigpmrpeq fsdevepatp eegepatqrq dpaaaqeged 61 egasagqgpk peadsqeqgh pqtgcecedg pdgqemdppn peevktpeeg ekqsqc // LOCUS NP_001091877 116 aa linear PRI 19-JUN-2020 DEFINITION G antigen 2D [Homo sapiens]. ACCESSION NP_001091877 XP_001130827 VERSION NP_001091877.1 DBSOURCE REFSEQ: accession NM_001098407.1 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 116) 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 2 (residues 1 to 116) AUTHORS De Backer O, Arden KC, Boretti M, Vantomme V, De Smet C, Czekay S, Viars CS, De Plaen E, Brasseur F, Chomez P, Van den Eynde B, Boon T and van der Bruggen P. TITLE Characterization of the GAGE genes that are expressed in various human cancers and in normal testis JOURNAL Cancer Res. 59 (13), 3157-3165 (1999) PUBMED 10397259 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BX649339.24. On May 31, 2007 this sequence version replaced XP_001130827.1. 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## 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="X" /map="Xp11.23" Protein 1..116 /product="G antigen 2D" /note="cancer/testis antigen 4.8" /calculated_mol_wt=12632 Region 1..110 /region_name="GAGE" /note="GAGE protein; pfam05831" /db_xref="CDD:310430" CDS 1..116 /gene="GAGE2D" /gene_synonym="CT4.8; GAGE-2D; GAGE-8; GAGE8" /coded_by="NM_001098407.1:117..467" /db_xref="GeneID:729408" /db_xref="HGNC:HGNC:31959" /db_xref="MIM:300735" ORIGIN 1 mswrgrstyr prprryvepp emigpmrpeq fsdevepatp eegepatqrq dpaaaqeged 61 egasagqgpk peadsqeqgh pqtgcecedg pdgqemdppn peevktpeeg ekqsqc // LOCUS NP_001138596 1188 aa linear PRI 19-JUN-2020 DEFINITION putative spermatogenesis-associated protein 31C1 [Homo sapiens]. ACCESSION NP_001138596 VERSION NP_001138596.1 DBSOURCE REFSEQ: accession NM_001145124.1 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 1188) 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 1188) 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 DB065037.1, AK310310.1 and AL353572.13. 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 :: DC400053.1, DC398610.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1188 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q22.1" Protein 1..1188 /product="putative spermatogenesis-associated protein 31C1" /note="family with sequence similarity 75, member C1; spermatogenesis-associated protein 31C2; spermatogenesis-associated protein 31C1" /calculated_mol_wt=130392 Site 23..43 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0DKV0.1)" Region 88..167 /region_name="DUF4599" /note="Domain of unknown function (DUF4599); pfam15371" /db_xref="CDD:292015" Region 317..606 /region_name="FAM75" /note="FAM75 family; pfam14650" /db_xref="CDD:291323" CDS 1..1188 /gene="SPATA31C1" /gene_synonym="FAM75C1; SPATA31C2" /coded_by="NM_001145124.1:30..3596" /db_xref="GeneID:441452" /db_xref="HGNC:HGNC:27846" ORIGIN 1 menlpfplkl lsasslntps stpwvldifl tlvfalglff lllpyfsylr cdnppspspr 61 krkrhlvsqr hlvsqcptgr rgrprgrmkn hslracrecp rgleetwdll sqlqsllgph 121 lekgdfgqls gpdppgevgk rtpdgasrss hepmedaapi vsplaspdpr tkhpqdlast 181 pppgpmttsv sslsasqppe pslllerpsp eppalfphpp htpdplacsp pppkgftppp 241 lrdstlltps hcdsvalpld tvpqslspre dlaasvpais glggsnsqvs alswsqettk 301 twcifnssvq qdhlsrqrdt tmspllfqaq plshlgpesq pfisstpqfr ptpmaqaeaq 361 ahlqssfpvl spaflspmkn tgvacpasqn kvqalslpet qhperpllrk qlegglalps 421 rvqksqdvfs vstpnlpqer ltsilpenfp vspelwrqle qymgqrgriq esldlmqlqd 481 elpgtsqakg kprpwqssts tgesskeaqt vkfqlerdpc phlgqilget pqnlsrgmes 541 fpgkvlgats eesernlrkp lrsdsgsdll rrternhien ilkahmgrkl gqtneglipv 601 svrrswlavn qafpvsnthv ktsnlaapks rkacvntaqv lsflelctqq vleahivrfw 661 akhrwglplr vlkpiqcfql ekvsslsliq lagpssdtce sgagskveva tllgeppmas 721 lrkqvltkps vhmperlqas spackqfqra prgipssndh gslkaptagq egrwpskplt 781 yslkgstqqs rslgaqssra getreavpqp tvplgtcmra nlqatsedvr gfkapgasks 841 sllprmsvsq dprklclmee avsefepgma tksetqpqvs aavvllpdgq asvvphasen 901 lasqvpqghl qstptgnmqa sqelcdlmsa rrsnmghkep rnpncqgsck sqspmfppth 961 krensrkpnl ekheemfqgl rtpqltpgrk tedtrqnegv qllpskkqpp sishfgenik 1021 qffetifskk erkpapvtae sqktvknrsc vygssaeaer lmtavgqipe enmslcharh 1081 askvnqqrqq fqapvcgfpc nhrhpfysdh srmlsyaass qqatlknqsr pnrdrqirdq 1141 qplksvrcnn eqwglrhpql llpkkavspv sppqhrpktp sasshhhh // LOCUS NP_001154817 663 aa linear PRI 19-JUN-2020 DEFINITION E3 ubiquitin-protein ligase CHFR isoform 2 [Homo sapiens]. ACCESSION NP_001154817 VERSION NP_001154817.1 DBSOURCE REFSEQ: accession NM_001161345.1 KEYWORDS RefSeq. SOURCE Homo 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 Cha Y, Kim SY, Yeo HY, Baek JY, Choi MK, Jung KH, Dong SM and Chang HJ. TITLE Association of CHFR Promoter Methylation with Treatment Outcomes of Irinotecan-Based Chemotherapy in Metastatic Colorectal Cancer JOURNAL Neoplasia 21 (1), 146-155 (2019) PUBMED 30562637 REMARK GeneRIF: These data suggest that CHFR methylation may be associated with favorable treatment outcomes of irinotecan-based chemotherapy in patients with metastatic colorectal cancer. REFERENCE 2 (residues 1 to 663) AUTHORS Woo SR, Lee HJ, Oh SJ, Kim S, Park SH, Lee J, Song KH and Kim TW. TITLE Stabilization of HDAC1 via TCL1-pAKT-CHFR axis is a key element for NANOG-mediated multi-resistance and stem-like phenotype in immune-edited tumor cells JOURNAL Biochem. Biophys. Res. Commun. 503 (3), 1812-1818 (2018) PUBMED 30060952 REMARK GeneRIF: The results establish a firm molecular link in immune-edited tumor cells among NANOG, AKT, CHFR, and HDAC1, identifying HDAC1 as a molecular target in controlling NANOGHIGH immune-refractory cancer. REFERENCE 3 (residues 1 to 663) AUTHORS Zhou JD, Zhang TJ, Li XX, Ma JC, Guo H, Wen XM, Yao DM, Zhang W, Lin J and Qian J. TITLE Methylation-independent CHFR expression is a potential biomarker affecting prognosis in acute myeloid leukemia JOURNAL J. Cell. Physiol. 233 (6), 4707-4714 (2018) PUBMED 29115660 REMARK GeneRIF: Lower CHFR expression was independently associated with unfavorable prognosis in acute myeloid leukemia. Moreover, aberrant CHFR promoter methylation was a rare event in myeloid malignances. REFERENCE 4 (residues 1 to 663) AUTHORS Castellano L, Dabrowska A, Pellegrino L, Ottaviani S, Cathcart P, Frampton AE, Krell J and Stebbing J. TITLE Sustained expression of miR-26a promotes chromosomal instability and tumorigenesis through regulation of CHFR JOURNAL Nucleic Acids Res. 45 (8), 4401-4412 (2017) PUBMED 28126920 REMARK GeneRIF: Re-expression of CHFR in miR-26a overexpressing cells partially rescues normal mitosis and impairs the tumorigenesis exerted by miR-26a. REFERENCE 5 (residues 1 to 663) AUTHORS Kim M, Kwon YE, Song JO, Bae SJ and Seol JH. TITLE CHFR negatively regulates SIRT1 activity upon oxidative stress JOURNAL Sci Rep 6, 37578 (2016) PUBMED 27883020 REMARK GeneRIF: JNK inhibitor prevents SIRT1 phosphorylation, leading to elevated SIRT1 protein levels even in the presence of H2O2. Taken together, our results indicate that CHFR plays a crucial role in the cellular stress response pathway by controlling the stability and function of SIRT1. Publication Status: Online-Only REFERENCE 6 (residues 1 to 663) AUTHORS Sanbhnani S and Yeong FM. TITLE CHFR: a key checkpoint component implicated in a wide range of cancers JOURNAL Cell. Mol. Life Sci. 69 (10), 1669-1687 (2012) PUBMED 22159584 REMARK GeneRIF: CHFR is thought to contribute towards regulating mitotic entry and possible explanations for contradictory observations published on the functions and regulation of CHFR are presented. [review] Review article REFERENCE 7 (residues 1 to 663) AUTHORS Mizuno K, Osada H, Konishi H, Tatematsu Y, Yatabe Y, Mitsudomi T, Fujii Y and Takahashi T. TITLE Aberrant hypermethylation of the CHFR prophase checkpoint gene in human lung cancers JOURNAL Oncogene 21 (15), 2328-2333 (2002) PUBMED 11948416 REFERENCE 8 (residues 1 to 663) AUTHORS Chaturvedi P, Sudakin V, Bobiak ML, Fisher PW, Mattern MR, Jablonski SA, Hurle MR, Zhu Y, Yen TJ and Zhou BB. TITLE Chfr regulates a mitotic stress pathway through its RING-finger domain with ubiquitin ligase activity JOURNAL Cancer Res. 62 (6), 1797-1801 (2002) PUBMED 11912157 REMARK GeneRIF: Chfr regulates a mitotic stress pathway through its RING-finger domain with ubiquitin ligase activity. REFERENCE 9 (residues 1 to 663) AUTHORS Kang D, Chen J, Wong J and Fang G. TITLE The checkpoint protein Chfr is a ligase that ubiquitinates Plk1 and inhibits Cdc2 at the G2 to M transition JOURNAL J. Cell Biol. 156 (2), 249-259 (2002) PUBMED 11807090 REMARK GeneRIF: checkpoint protein Chfr is a ligase that ubiquitinates Plk1 and inhibits Cdc2 at the G2 to M transition REFERENCE 10 (residues 1 to 663) AUTHORS Scolnick DM and Halazonetis TD. TITLE Chfr defines a mitotic stress checkpoint that delays entry into metaphase JOURNAL Nature 406 (6794), 430-435 (2000) PUBMED 10935642 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP313700.1, AK304333.1, AK027687.1, AC127070.10 and BC012072.1. Summary: This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK304333.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..663 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q24.33" Protein 1..663 /product="E3 ubiquitin-protein ligase CHFR isoform 2" /EC_number="2.3.2.27" /note="RING finger protein 196; checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase; RING-type E3 ubiquitin transferase CHFR" /calculated_mol_wt=73185 Region 16..105 /region_name="FHA" /note="Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins...; cd00060" /db_xref="CDD:238017" Region <31..140 /region_name="FHA" /note="Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]; COG1716" /db_xref="CDD:224630" Site order(42,55,57..58,79..81) /site_type="other" /note="phosphopeptide binding site" /db_xref="CDD:238017" Site 244 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q96EP1.2)" Region 303..346 /region_name="RING" /note="RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in...; cd00162" /db_xref="CDD:238093" Site order(304,307,320,322,325,328,339,342) /site_type="other" /note="cross-brace motif" /db_xref="CDD:238093" Site 386 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q810L3; propagated from UniProtKB/Swiss-Prot (Q96EP1.2)" CDS 1..663 /gene="CHFR" /gene_synonym="RNF116; RNF196" /coded_by="NM_001161345.1:85..2076" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:55743" /db_xref="HGNC:HGNC:20455" /db_xref="MIM:605209" ORIGIN 1 merpeegkqs pppqpwgrll rlgaeegeph vllrkrewti grrrgcdlsf psnklvsgdh 61 crivvdeksg qvtledtsts gtvinklkvv kkqtcplqtg dviylvyrkn epehnvayly 121 eslsekqgmt qesfeanken vfhgtkdtsg agagrgadpr vppsspatqv cfeepqpsts 181 tsdlfptasa sstepspagr erssscgsgg ggispkgsgp svasdevssf asalpdrkta 241 sfsslepqdq edlepvkkkm rgdgdldlng qllvaqprrn aqtvhedvra aagkpdkmee 301 tltciicqdl lhdcvslqpc mhtfcaacys gwmersslcp tcrcpveric knhilnnlve 361 ayliqhpdks rseedvqsmd arnkitqdml qpkvrrsfsd eegssedlle lsdvdsessd 421 isqpyvvcrq cpeyrrqaaq pphcpapege pgapqalgda pstsvslttv qdyvcplqgs 481 halctccfqp mpdrraereq dprvapqqca vclqpfchly wgctrtgcyg clapfcelnl 541 gdkcldgvln nnsyesdilk nylatrgltw knmlteslva lqrgvfllsd yrvtgdtvlc 601 yccglrsfre ltyqyrqnip aselpvavts rpdcywgrnc rtqvkahham kfnhiceqtr 661 fkn // LOCUS NP_001004491 335 aa linear PRI 19-JUN-2020 DEFINITION olfactory receptor 2AK2 [Homo sapiens]. ACCESSION NP_001004491 XP_372822 VERSION NP_001004491.1 DBSOURCE REFSEQ: accession NM_001004491.1 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 335) 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 BK004457.1. On Sep 19, 2004 this sequence version replaced XP_372822.2. 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..335 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q44" Protein 1..335 /product="olfactory receptor 2AK2" /note="olfactory receptor, family 2, subfamily AK, member 1 pseudogene; olfactory receptor OR1-47; olfactory receptor 2AK1" /calculated_mol_wt=37632 Site 20 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NG84.2)" Site 41..64 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG84.2)" Region 49..320 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 56..305 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 73..94 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG84.2)" Site 116..135 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG84.2)" Site 155..173 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG84.2)" Site 211..234 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG84.2)" Site 252..274 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG84.2)" Site 288..307 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG84.2)" CDS 1..335 /gene="OR2AK2" /gene_synonym="OR1-47; OR2AK1P" /coded_by="NM_001004491.1:1..1008" /db_xref="CCDS:CCDS31102.1" /db_xref="GeneID:391191" /db_xref="HGNC:HGNC:19569" ORIGIN 1 mnisdvisfd ilvsamktgn qsfgtdfllv glfqygwins llfvviatlf tvaltgniml 61 ihlirlntrl htpmyfllsq lsivdlmyis ttvpkmavsf lsqsktirfl gceiqtyvfl 121 alggtealll gfmsydryva ichplhypml mskkicclmv acawasgsin afihtlyvfq 181 lpfcrsrlin hffcevpall slvcqdtsqy eytvllsgli illlpflail asyarvlivv 241 fqmssgkgqa kavstcsshl ivaslfyatt lftytrphsl rspsrdkava vfytivtpll 301 npfiyslrnk evtgavrrll gywiccrkyd frsly // LOCUS NP_001005480 318 aa linear PRI 19-JUN-2020 DEFINITION olfactory receptor 2A2 [Homo sapiens]. ACCESSION NP_001005480 XP_498253 VERSION NP_001005480.2 DBSOURCE REFSEQ: accession NM_001005480.2 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 318) 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 318) 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 AC091768.4. On Aug 4, 2007 this sequence version replaced NP_001005480.1. 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 protein homology data. ##Evidence-Data-START## Transcript is intronless :: BC136742.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## 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="olfactory receptor 2A2" /note="olfactory receptor, family 2, subfamily A, member 2 pseudogene; olfactory receptor, family 2, subfamily A, member 17 pseudogene; olfactory receptor OR7-11; olfactory receptor 2A17" /calculated_mol_wt=35689 Site 4 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6IF42.2)" Region 24..300 /region_name="7tmA_OR2A-like" /note="olfactory receptor subfamily 2A and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors; cd15420" /db_xref="CDD:320542" Region 25..51 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:320542" Site 25..48 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6IF42.2)" Site 57..78 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6IF42.2)" Region 58..84 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320542" Site order(80,83..84,96..101,103..104,107,152,154..158,194, 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:320542" Region 96..126 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320542" Site 100..119 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6IF42.2)" Region 139..160 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320542" Site 139..157 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6IF42.2)" Region 194..224 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320542" Site 195..218 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6IF42.2)" Region 231..261 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320542" Site 236..258 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6IF42.2)" Region 268..293 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320542" Site 272..291 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6IF42.2)" CDS 1..318 /gene="OR2A2" /gene_synonym="OR2A17P; OR2A2P; OR7-11; OST008" /coded_by="NM_001005480.2:1..957" /db_xref="CCDS:CCDS43671.1" /db_xref="GeneID:442361" /db_xref="HGNC:HGNC:8230" ORIGIN 1 megnqtwitd itllgfqvgp alaillcglf svfytltllg ngvifgiicl dsklhtpmyf 61 flshlaiidm syasnnvpkm lanlmnqkrt isfvpcimqt flylafavte clilvvmsyd 121 ryvaichpfq ytvimswrvc tilvltswsc gfalslvhei lllrlpfcgp rdvnhlfcei 181 lsvlklacad twvnqvvifa tcvfvlvgpl slilvsymhi lgailkiqtk egrikafstc 241 sshlcvvglf fgiamvvymv pdsnqreeqe kmlslfhsvf npmlnpliys lrnaqlkgal 301 hralqrkrsm rtvyglcl // LOCUS NP_068818 266 aa linear PRI 20-JUN-2020 DEFINITION major histocompatibility complex, class II, DR beta 4 precursor [Homo sapiens]. ACCESSION NP_068818 XP_006726011 XP_011546432 XP_945196 VERSION NP_068818.4 DBSOURCE REFSEQ: accession NM_021983.4 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 266) AUTHORS Selli ME, Thomas AC, Wraith DC and Newby AC. TITLE A humanized HLA-DR4 mouse model for autoimmune myocarditis JOURNAL J. Mol. Cell. Cardiol. 107, 22-26 (2017) PUBMED 28431892 REMARK GeneRIF: We developed an human cardiac alpha-myosin -induced myocarditis model in human HLA-DR4 transgenic mice that lack all mouse MHCII genes. REFERENCE 2 (residues 1 to 266) AUTHORS van Sonderen A, Roelen DL, Stoop JA, Verdijk RM, Haasnoot GW, Thijs RD, Wirtz PW, Schreurs MW, Claas FH, Sillevis Smitt PA and Titulaer MJ. TITLE Anti-LGI1 encephalitis is strongly associated with HLA-DR7 and HLA-DRB4 JOURNAL Ann. Neurol. 81 (2), 193-198 (2017) PUBMED 28026046 REMARK GeneRIF: Strong association of nontumor anti-LGI1 encephalitis with HLA-DRB4. REFERENCE 3 (residues 1 to 266) AUTHORS Yuksel M, Xiao X, Tai N, Vijay M, Gulden E, Beland K, Lapierre P, Alvarez F, Hu Z, Colle I, Ma Y and Wen L. TITLE The induction of autoimmune hepatitis in the human leucocyte antigen-DR4 non-obese diabetic mice autoimmune hepatitis mouse model JOURNAL Clin. Exp. Immunol. 186 (2), 164-176 (2016) PUBMED 27414259 REMARK GeneRIF: HLA-DR4 is a susceptibility factor for the development of AIH. Impaired suppressive function of Tregs and reduced PD-1 expression may result in spontaneous activation of key immune cell subsets, such as antigen-presenting cells and CD8(+) T effectors, facilitating the induction of AIH and persistent liver damage. Erratum:[Clin Exp Immunol. 2018 Apr;192(1):138. PMID: 29517125] REFERENCE 4 (residues 1 to 266) AUTHORS Zhao LP, Alshiekh S, Zhao M, Carlsson A, Larsson HE, Forsander G, Ivarsson SA, Ludvigsson J, Kockum I, Marcus C, Persson M, Samuelsson U, Ortqvist E, Pyo CW, Nelson WC, Geraghty DE and Lernmark A. CONSRTM Better Diabetes Diagnosis (BDD) Study Group TITLE Next-Generation Sequencing Reveals That HLA-DRB3, -DRB4, and -DRB5 May Be Associated With Islet Autoantibodies and Risk for Childhood Type 1 Diabetes JOURNAL Diabetes 65 (3), 710-718 (2016) PUBMED 26740600 REMARK GeneRIF: HLA-DRB4 affects type 1 diabetes risk and islet autoantibodies. REFERENCE 5 (residues 1 to 266) AUTHORS McLaughlin KA, Gulati K, Richardson CC, Morgan D, Bodansky HJ, Feltbower RG and Christie MR. TITLE HLA-DR4-associated T and B cell responses to specific determinants on the IA-2 autoantigen in type 1 diabetes JOURNAL J. Immunol. 193 (9), 4448-4456 (2014) PUBMED 25225671 REMARK GeneRIF: The study identifies a region of focus for B and T cell responses to IA-2 in HLA-DR4 diabetic patients that may explain HLA associations of IA-2 autoantibodies. REFERENCE 6 (residues 1 to 266) AUTHORS O'Brien RM, Cram DS, Russ GR, Starr R and Tait BD. TITLE Nucleotide sequences of the HLA-DRw12 and DRw8 B1 chains from an Australian aborigine JOURNAL Hum. Immunol. 34 (2), 147-151 (1992) PUBMED 1358866 REFERENCE 7 (residues 1 to 266) AUTHORS Dong RP, Kimura A and Sasazuki T. TITLE Sequence analysis of three novel DRw14-DRB1 alleles JOURNAL Immunogenetics 36 (2), 130-133 (1992) PUBMED 1612646 REFERENCE 8 (residues 1 to 266) AUTHORS Kenter M, Otting N, Anholts J, Jonker M, Schipper R and Bontrop RE. TITLE Mhc-DRB diversity of the chimpanzee (Pan troglodytes) JOURNAL Immunogenetics 37 (1), 1-11 (1992) PUBMED 1428007 REFERENCE 9 (residues 1 to 266) AUTHORS Gyllensten UB, Sundvall M and Erlich HA. TITLE Allelic diversity is generated by intraexon sequence exchange at the DRB1 locus of primates JOURNAL Proc. Natl. Acad. Sci. U.S.A. 88 (9), 3686-3690 (1991) PUBMED 2023919 REFERENCE 10 (residues 1 to 266) AUTHORS Nong Y, Kandil O, Tobin EH, Rose RM and Remold HG. TITLE The HIV core protein p24 inhibits interferon-gamma-induced increase of HLA-DR and cytochrome b heavy chain mRNA levels in the human monocyte-like cell line THP1 JOURNAL Cell. Immunol. 132 (1), 10-16 (1991) PUBMED 1905983 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BF974249.1, BC005312.1 and AI829825.1. On or before Mar 23, 2015 this sequence version replaced XP_011546432.1, XP_006726011.1, XP_945196.1, NP_068818.3. Summary: HLA-DRB4 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 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 :: BC005312.1, AK292151.1 [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..266 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p21.3" Protein 1..266 /product="major histocompatibility complex, class II, DR beta 4 precursor" /note="HLA class II histocompatibility antigen, DR beta 4 chain; MHC class II antigen DRB4" /calculated_mol_wt=27098 sig_peptide 1..29 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2862 mat_peptide 30..266 /product="major histocompatibility complex, class II, DR beta 4" /calculated_mol_wt=27098 Region 30..124 /region_name="Beta-1" /note="propagated from UniProtKB/Swiss-Prot (P13762.2)" Region 42..116 /region_name="MHC_II_beta" /note="Class II histocompatibility antigen, beta domain; pfam00969" /db_xref="CDD:366394" Site 48 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P13762.2)" Region 125..227 /region_name="Beta-2" /note="propagated from UniProtKB/Swiss-Prot (P13762.2)" Region 126..219 /region_name="IgC_MHC_II_beta" /note="Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain; cd05766" /db_xref="CDD:143243" Site order(131,149..150,152,178..185) /site_type="other" /note="heterodimer interface [polypeptide binding]" /db_xref="CDD:143243" Site order(152,180..182,184) /site_type="other" /note="MHC binding domain interface [polypeptide binding]" /db_xref="CDD:143243" Site 228..250 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P13762.2)" CDS 1..266 /gene="HLA-DRB4" /gene_synonym="DR4; DRB4; HLA-DR4B; HLA-DRB4*" /coded_by="NM_021983.4:72..872" /db_xref="GeneID:3126" /db_xref="HGNC:HGNC:4952" ORIGIN 1 mvclklpggs cmaaltvtlt vlssplalag dtqprfleqa kcechflngt ervwnliryi 61 ynqeeyaryn sdlgeyqavt elgrpdaeyw nsqkdllerr raevdtycry nygvvesftv 121 qrrvqpkvtv ypsktqplqh hnllvcsvng fypgsievrw frngqeekag vvstgliqng 181 dwtfqtlvml etvprsgevy tcqvehpsmm spltvqwsar sesaqskmls gvggfvlgll 241 flgtglfiyf rnqkghsglq ptglls // LOCUS NP_060693 623 aa linear PRI 20-JUN-2020 DEFINITION E3 ubiquitin-protein ligase CHFR isoform 4 [Homo sapiens]. ACCESSION NP_060693 VERSION NP_060693.2 DBSOURCE REFSEQ: accession NM_018223.2 KEYWORDS RefSeq. SOURCE Homo 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 Cha Y, Kim SY, Yeo HY, Baek JY, Choi MK, Jung KH, Dong SM and Chang HJ. TITLE Association of CHFR Promoter Methylation with Treatment Outcomes of Irinotecan-Based Chemotherapy in Metastatic Colorectal Cancer JOURNAL Neoplasia 21 (1), 146-155 (2019) PUBMED 30562637 REMARK GeneRIF: These data suggest that CHFR methylation may be associated with favorable treatment outcomes of irinotecan-based chemotherapy in patients with metastatic colorectal cancer. REFERENCE 2 (residues 1 to 623) AUTHORS Woo SR, Lee HJ, Oh SJ, Kim S, Park SH, Lee J, Song KH and Kim TW. TITLE Stabilization of HDAC1 via TCL1-pAKT-CHFR axis is a key element for NANOG-mediated multi-resistance and stem-like phenotype in immune-edited tumor cells JOURNAL Biochem. Biophys. Res. Commun. 503 (3), 1812-1818 (2018) PUBMED 30060952 REMARK GeneRIF: The results establish a firm molecular link in immune-edited tumor cells among NANOG, AKT, CHFR, and HDAC1, identifying HDAC1 as a molecular target in controlling NANOGHIGH immune-refractory cancer. REFERENCE 3 (residues 1 to 623) AUTHORS Zhou JD, Zhang TJ, Li XX, Ma JC, Guo H, Wen XM, Yao DM, Zhang W, Lin J and Qian J. TITLE Methylation-independent CHFR expression is a potential biomarker affecting prognosis in acute myeloid leukemia JOURNAL J. Cell. Physiol. 233 (6), 4707-4714 (2018) PUBMED 29115660 REMARK GeneRIF: Lower CHFR expression was independently associated with unfavorable prognosis in acute myeloid leukemia. Moreover, aberrant CHFR promoter methylation was a rare event in myeloid malignances. REFERENCE 4 (residues 1 to 623) AUTHORS Castellano L, Dabrowska A, Pellegrino L, Ottaviani S, Cathcart P, Frampton AE, Krell J and Stebbing J. TITLE Sustained expression of miR-26a promotes chromosomal instability and tumorigenesis through regulation of CHFR JOURNAL Nucleic Acids Res. 45 (8), 4401-4412 (2017) PUBMED 28126920 REMARK GeneRIF: Re-expression of CHFR in miR-26a overexpressing cells partially rescues normal mitosis and impairs the tumorigenesis exerted by miR-26a. REFERENCE 5 (residues 1 to 623) AUTHORS Kim M, Kwon YE, Song JO, Bae SJ and Seol JH. TITLE CHFR negatively regulates SIRT1 activity upon oxidative stress JOURNAL Sci Rep 6, 37578 (2016) PUBMED 27883020 REMARK GeneRIF: JNK inhibitor prevents SIRT1 phosphorylation, leading to elevated SIRT1 protein levels even in the presence of H2O2. Taken together, our results indicate that CHFR plays a crucial role in the cellular stress response pathway by controlling the stability and function of SIRT1. Publication Status: Online-Only REFERENCE 6 (residues 1 to 623) AUTHORS Sanbhnani S and Yeong FM. TITLE CHFR: a key checkpoint component implicated in a wide range of cancers JOURNAL Cell. Mol. Life Sci. 69 (10), 1669-1687 (2012) PUBMED 22159584 REMARK GeneRIF: CHFR is thought to contribute towards regulating mitotic entry and possible explanations for contradictory observations published on the functions and regulation of CHFR are presented. [review] Review article REFERENCE 7 (residues 1 to 623) AUTHORS Mizuno K, Osada H, Konishi H, Tatematsu Y, Yatabe Y, Mitsudomi T, Fujii Y and Takahashi T. TITLE Aberrant hypermethylation of the CHFR prophase checkpoint gene in human lung cancers JOURNAL Oncogene 21 (15), 2328-2333 (2002) PUBMED 11948416 REFERENCE 8 (residues 1 to 623) AUTHORS Chaturvedi P, Sudakin V, Bobiak ML, Fisher PW, Mattern MR, Jablonski SA, Hurle MR, Zhu Y, Yen TJ and Zhou BB. TITLE Chfr regulates a mitotic stress pathway through its RING-finger domain with ubiquitin ligase activity JOURNAL Cancer Res. 62 (6), 1797-1801 (2002) PUBMED 11912157 REMARK GeneRIF: Chfr regulates a mitotic stress pathway through its RING-finger domain with ubiquitin ligase activity. REFERENCE 9 (residues 1 to 623) AUTHORS Kang D, Chen J, Wong J and Fang G. TITLE The checkpoint protein Chfr is a ligase that ubiquitinates Plk1 and inhibits Cdc2 at the G2 to M transition JOURNAL J. Cell Biol. 156 (2), 249-259 (2002) PUBMED 11807090 REMARK GeneRIF: checkpoint protein Chfr is a ligase that ubiquitinates Plk1 and inhibits Cdc2 at the G2 to M transition REFERENCE 10 (residues 1 to 623) AUTHORS Scolnick DM and Halazonetis TD. TITLE Chfr defines a mitotic stress checkpoint that delays entry into metaphase JOURNAL Nature 406 (6794), 430-435 (2000) PUBMED 10935642 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP313700.1, AK001658.1, AK027687.1, AC127070.10 and BC012072.1. This sequence is a reference standard in the RefSeqGene project. On Jun 6, 2009 this sequence version replaced NP_060693.1. Summary: This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK001658.1, SRR1660809.224931.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..623 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q24.33" Protein 1..623 /product="E3 ubiquitin-protein ligase CHFR isoform 4" /EC_number="2.3.2.27" /note="RING finger protein 196; checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase; RING-type E3 ubiquitin transferase CHFR" /calculated_mol_wt=69062 Region 16..105 /region_name="FHA" /note="Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins...; cd00060" /db_xref="CDD:238017" Region <31..>103 /region_name="FHA" /note="Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]; COG1716" /db_xref="CDD:224630" Site order(42,55,57..58,79..81) /site_type="other" /note="phosphopeptide binding site" /db_xref="CDD:238017" Region 262..305 /region_name="RING" /note="RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in...; cd00162" /db_xref="CDD:238093" Site order(263,266,279,281,284,287,298,301) /site_type="other" /note="cross-brace motif" /db_xref="CDD:238093" CDS 1..623 /gene="CHFR" /gene_synonym="RNF116; RNF196" /coded_by="NM_018223.2:85..1956" /note="isoform 4 is encoded by transcript variant 4" /db_xref="CCDS:CCDS31937.1" /db_xref="GeneID:55743" /db_xref="HGNC:HGNC:20455" /db_xref="MIM:605209" ORIGIN 1 merpeegkqs pppqpwgrll rlgaeegeph vllrkrewti grrrgcdlsf psnklvsgdh 61 crivvdeksg qvtledtsts gtvinklkvv kkqtcplqtg dviylvyrkn epehnvayly 121 eslsekqgmt qesfemvpcc vaqaglkllg ssdpptlasq sivitgsggg gispkgsgps 181 vasdevssfa salpdrktas fsslepqdqe dlepvkkkmr gdgdldlngq llvaqprrna 241 qtvhedvraa agkpdkmeet ltciicqdll hdcvslqpcm htfcaacysg wmersslcpt 301 crcpverick nhilnnlvea yliqhpdksr seedvqsmda rnkitqdmlq pkvrrsfsde 361 egssedllel sdvdsessdi sqpyvvcrqc peyrrqaaqp phcpapegep gapqalgdap 421 stsvslttav qdyvcplqgs halctccfqp mpdrraereq dprvapqqca vclqpfchly 481 wgctrtgcyg clapfcelnl gdkcldgvln nnsyesdilk nylatrgltw knmlteslva 541 lqrgvfllsd yrvtgdtvlc yccglrsfre ltyqyrqnip aselpvavts rpdcywgrnc 601 rtqvkahham kfnhiceqtr fkn // LOCUS NP_001185744 1773 aa linear PRI 20-JUN-2020 DEFINITION mucin-22 isoform 2 precursor [Homo sapiens]. ACCESSION NP_001185744 XP_003119272 XP_003119351 XP_003119485 VERSION NP_001185744.1 DBSOURCE REFSEQ: accession NM_001198815.1 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 1773) AUTHORS Chen JB, Zhang J, Hu HZ, Xue M and Jin YJ. TITLE Polymorphisms of TGFB1, TLE4 and MUC22 are associated with childhood asthma in Chinese population JOURNAL Allergol Immunopathol (Madr) 45 (5), 432-438 (2017) PUBMED 28262390 REMARK GeneRIF: Genes TGFB1, TLE4 and MUC22 are associated with the risk of childhood asthma in Chinese population. REFERENCE 2 (residues 1 to 1773) AUTHORS Hijikata M, Matsushita I, Tanaka G, Tsuchiya T, Ito H, Tokunaga K, Ohashi J, Homma S, Kobashi Y, Taguchi Y, Azuma A, Kudoh S and Keicho N. TITLE Molecular cloning of two novel mucin-like genes in the disease-susceptibility locus for diffuse panbronchiolitis JOURNAL Hum. Genet. 129 (2), 117-128 (2011) PUBMED 20981447 REMARK GeneRIF: The mucin-like gene PBMUCL1 is also one of the candidate genes of Diffuse panbronchiolitis susceptibility. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB560770.1 and AL669830.9. On or before Nov 16, 2010 this sequence version replaced XP_003119351.1, XP_003119485.1, XP_003119272.1. Transcript Variant: This variant (2) uses an alternate splice site in the 5' 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. ##Evidence-Data-START## Transcript exon combination :: AB560770.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1773 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p21.33" Protein 1..1773 /product="mucin-22 isoform 2 precursor" /note="panbronchiolitis-related mucin-like protein 1" /calculated_mol_wt=170488 sig_peptide 1..26 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3009 Region 153..1514 /region_name="124 X 10 AA approximate repeats" /note="propagated from UniProtKB/Swiss-Prot (E2RYF6.2)" Region 1646..1762 /region_name="Epiglycanin_C" /note="Mucin, catalytic, TM and cytoplasmic tail region; pfam14654" /db_xref="CDD:291326" Site 1661..1681 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (E2RYF6.2)" CDS 1..1773 /gene="MUC22" /gene_synonym="PBMUCL1" /coded_by="NM_001198815.1:220..5541" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS59003.1" /db_xref="GeneID:100507679" /db_xref="HGNC:HGNC:39755" /db_xref="MIM:613917" ORIGIN 1 mrrgnispaf wflwlllfgl lgpssentta ftkgsdttta sitgsettma stmastsalt 61 tgskittdst tgsettsast mastaafttg setntasttd sgttiastrt fttgsdtttg 121 stagsetiva sttvsgtttt ftiasttvpe ttmassttst agsektmass iisettmast 181 tgsetatvst tgsettttst asseatkvst tgsetttast agsettttst smagseattt 241 stadskvita ssmssettva paagsnttta sttgsettti likasettta stagsetttp 301 sptgsqttiv sisgseittt stagsenttv ssagsgttta smagsettvs tagsetttvs 361 itgtettmvs amgsetttns ttssettvts tagsetttvs tvgsetttay tadsettaas 421 ttgsemttvf tagsetitps tagsetttvs tagsetttvs ttgsetttas tahsettaas 481 tmgsettkvs tagsettvst agsettaast edsetntaft edsktttast tgfettaast 541 tgseptmast mgsettmast igpettkvst assevttvfa agsetirast vgsetttvst 601 tgsetttasi mgsetstdst tgsetttast egsetttast egseattvst tgsetttvsi 661 tdsettttct egsemtavst tvfetttast egseitiast sdsetttast egsetttvtt 721 agsetktayt tgsetttasn tgletttvft igsdtttast egsettavsa tgsemttvst 781 egsenttvst tgsetttvst tglettttst egsemttvst tgaetttdst egsgttaast 841 agsetttvst adsenttast adsettsast tgsetttast tssetttast egsetttvst 901 tdsettmvst tgsertitst egsetttvsa tgsettvste gsgtttvsit gsettkvstt 961 gsettttste gseittasit gsetttaste gsetttaste gsettsastt gsetttastt 1021 ssettmasim gsettmasti gsettkvsta sskmttvfte nsettiastt asetttvsta 1081 gsetipasta gsetttttst egsetttast egsetttast essetttatt igsetttast 1141 egsettttst egsetttast egseittvst tgsetttast egsetttast egselttvst 1201 tgsetitvsa egsetttvtt mgsetttast agsetttvst agsetttasi egsetttvss 1261 tgsetttvst tgtettitst egsetttvtt agsettavyt tgsettttst egsetttvst 1321 tgsetttast adletttvst sgsgtttast agsetttvyi tgsktttast egseattvst 1381 tssetttast tgsemttvft tvsetttvst igseattssa agseatttst egsetttast 1441 agsetttast agsetttast sgsetntact tgsetstpss agsetntafi igsestiast 1501 asleptatsl tgsetttvsi tasgataast tvssttfvlt katdvsiqpi tntpmsgtrt 1561 tgtrltasss vtmapgmdft asaashtvpg ivlntsglgt stmgasstts ahgvrtttgs 1621 treptsstfq etgpvsmgtn tvsmshtptn vikpsgylqp waiilislaa vvaavglsvg 1681 lsfclrnlff plrycgiyyp hghshslgld lnlglgsgtf hslgnalvhg gelemghggt 1741 hgfgygvghg lshihgdgyg vnhgghyghg ggh // LOCUS NP_001073923 580 aa linear PRI 20-JUN-2020 DEFINITION acyl-coenzyme A synthetase ACSM4, mitochondrial precursor [Homo sapiens]. ACCESSION NP_001073923 XP_292035 VERSION NP_001073923.1 DBSOURCE REFSEQ: accession NM_001080454.1 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 580) AUTHORS Guzman-Fulgencio M, Jimenez JL, Jimenez-Sousa MA, Bellon JM, Garcia-Alvarez M, Soriano V, Gijon-Vidaurreta P, Bernal-Morell E, Viciana P, Munoz-Fernandez MA and Resino S. TITLE ACSM4 polymorphisms are associated with rapid AIDS progression in HIV-infected patients JOURNAL J. Acquir. Immune Defic. Syndr. 65 (1), 27-32 (2014) PUBMED 23982661 REMARK GeneRIF: SNPs associated with rapid AIDS progression REFERENCE 2 (residues 1 to 580) 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 580) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC131205.3. On Jan 18, 2007 this sequence version replaced XP_292035.6. 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. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology 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="12" /map="12p13.31" Protein 1..580 /product="acyl-coenzyme A synthetase ACSM4, mitochondrial precursor" /EC_number="6.2.1.2" /note="acyl-coenzyme A synthetase ACSM4, mitochondrial" /calculated_mol_wt=62832 transit_peptide 1..22 /note="Mitochondrion. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P0C7M7.1)" /calculated_mol_wt=2890 Region 48..577 /region_name="MACS_euk" /note="Eukaryotic Medium-chain acyl-CoA synthetase (MACS or ACSM); cd05928" /db_xref="CDD:213294" Region 49..580 /region_name="Acs" /note="Acyl-coenzyme A synthetase/AMP-(fatty) acid ligase [Lipid transport and metabolism]; COG0365" /db_xref="CDD:223442" Site order(147,274..276,300,320,322,326,346..349,368..373, 376..377,392,455,467,470,476,478..481,510,541,546..547, 549,551) /site_type="active" /db_xref="CDD:213294" Site order(226,229..234,236..237) /site_type="other" /note="acyl-activating enzyme (AAE) consensus motif" /db_xref="CDD:213294" Site order(270,322..323,326,346,478..480,541,547) /site_type="other" /note="putative CoA binding site [chemical binding]" /db_xref="CDD:213294" Site order(346..349,368..373,392,455,467,470,476,481) /site_type="other" /note="AMP binding site [chemical binding]" /db_xref="CDD:213294" CDS 1..580 /gene="ACSM4" /coded_by="NM_001080454.1:1..1743" /db_xref="CCDS:CCDS44825.1" /db_xref="GeneID:341392" /db_xref="HGNC:HGNC:32016" /db_xref="MIM:614360" ORIGIN 1 mkiffryqtf rfiwltkppg rrlhkdhqlw tpltladfea inrcnrplpk nfnfaadvld 61 qwsqkektge rpanpalwwv ngkgdevkws frelgslsrk aanvltkpcg lqrgdrlavi 121 lpripewwlv nvacirtgii fmpgtiqlta kdilyrlras kakcivasee vapavesivl 181 ecpdlktkll vspqswngwl sfqelfqfas eehscvetgs qepmtiyfts gttgfpkmaq 241 hsqsslgigf tlcgrywldl kssdiiwnms dtgwvkaaig svfsswlcga cvfvhrmaqf 301 dtdtfldtlt typittlcsp ptvyrmlvqk dlkrykfksl rhcltggepl npevleqwrv 361 qtglelyegy gqtevgmica nqkgqeikpg smgkgmlpyd vqiidengnv lppgkegeia 421 lrlkptrpfc ffskyvdnpq ktaatirgdf yvtgdrgvmd sdgyfwfvgr addviissgy 481 rigpfevesa liehpavves avvsspdqir gevvkafvvl aapfksynpe kltlelqdhv 541 kkstapykyp rkvefvqelp ktitgkikrn vlrdqewrgr // LOCUS NP_001139513 210 aa linear PRI 20-JUN-2020 DEFINITION keratin-associated protein 4-9 [Homo sapiens]. ACCESSION NP_001139513 XP_001715900 XP_001716881 XP_001718494 VERSION NP_001139513.1 DBSOURCE REFSEQ: accession NM_001146041.1 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 210) AUTHORS Choi HI, Choi GI, Kim EK, Choi YJ, Sohn KC, Lee Y, Kim CD, Yoon TJ, Sohn HJ, Han SH, Kim S, Lee JH and Lee YH. TITLE Hair greying is associated with active hair growth JOURNAL Br. J. Dermatol. 165 (6), 1183-1189 (2011) PUBMED 21916889 REFERENCE 2 (residues 1 to 210) 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 or before Mar 27, 2009 this sequence version replaced XP_001718494.1, XP_001716881.1, XP_001715900.1. 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..210 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q21.2" Protein 1..210 /product="keratin-associated protein 4-9" /note="keratin-associated protein 4.9; ultrahigh sulfur keratin-associated protein 4.9" /calculated_mol_wt=22275 Region 3..144 /region_name="Keratin_B2" /note="Keratin, high sulfur B2 protein; pfam01500" /db_xref="CDD:279797" Region 24..178 /region_name="29 X 5 AA repeats of C-C-[RQVHIEK]-[SPTR]-[VSTQCRNP]" /note="propagated from UniProtKB/Swiss-Prot (Q9BYQ8.2)" Region 42..103 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 84..128 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 119..>149 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" CDS 1..210 /gene="KRTAP4-9" /gene_synonym="KAP4.9" /coded_by="NM_001146041.1:1..633" /db_xref="CCDS:CCDS54124.1" /db_xref="GeneID:100132386" /db_xref="HGNC:HGNC:18910" ORIGIN 1 mvssccgsvc sdqgcgqdlc qetccrpscc ettccrttcc rpsccvsscc rpqccqsvcc 61 qptcsrpscc qttccrttcy rpsccvsscc rpqccqpacc qptccrpscc ettcchprcc 121 issccrpscc vsscckpqcc qsvccqpncc rpscsisscc rpsccesscc rpcccvrpvc 181 grvschttcy rptcvisscp rplccasscc // LOCUS NP_001154816 664 aa linear PRI 20-JUN-2020 DEFINITION E3 ubiquitin-protein ligase CHFR isoform 1 [Homo sapiens]. ACCESSION NP_001154816 VERSION NP_001154816.1 DBSOURCE REFSEQ: accession NM_001161344.1 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 664) AUTHORS Cha Y, Kim SY, Yeo HY, Baek JY, Choi MK, Jung KH, Dong SM and Chang HJ. TITLE Association of CHFR Promoter Methylation with Treatment Outcomes of Irinotecan-Based Chemotherapy in Metastatic Colorectal Cancer JOURNAL Neoplasia 21 (1), 146-155 (2019) PUBMED 30562637 REMARK GeneRIF: These data suggest that CHFR methylation may be associated with favorable treatment outcomes of irinotecan-based chemotherapy in patients with metastatic colorectal cancer. REFERENCE 2 (residues 1 to 664) AUTHORS Woo SR, Lee HJ, Oh SJ, Kim S, Park SH, Lee J, Song KH and Kim TW. TITLE Stabilization of HDAC1 via TCL1-pAKT-CHFR axis is a key element for NANOG-mediated multi-resistance and stem-like phenotype in immune-edited tumor cells JOURNAL Biochem. Biophys. Res. Commun. 503 (3), 1812-1818 (2018) PUBMED 30060952 REMARK GeneRIF: The results establish a firm molecular link in immune-edited tumor cells among NANOG, AKT, CHFR, and HDAC1, identifying HDAC1 as a molecular target in controlling NANOGHIGH immune-refractory cancer. REFERENCE 3 (residues 1 to 664) AUTHORS Zhou JD, Zhang TJ, Li XX, Ma JC, Guo H, Wen XM, Yao DM, Zhang W, Lin J and Qian J. TITLE Methylation-independent CHFR expression is a potential biomarker affecting prognosis in acute myeloid leukemia JOURNAL J. Cell. Physiol. 233 (6), 4707-4714 (2018) PUBMED 29115660 REMARK GeneRIF: Lower CHFR expression was independently associated with unfavorable prognosis in acute myeloid leukemia. Moreover, aberrant CHFR promoter methylation was a rare event in myeloid malignances. REFERENCE 4 (residues 1 to 664) AUTHORS Castellano L, Dabrowska A, Pellegrino L, Ottaviani S, Cathcart P, Frampton AE, Krell J and Stebbing J. TITLE Sustained expression of miR-26a promotes chromosomal instability and tumorigenesis through regulation of CHFR JOURNAL Nucleic Acids Res. 45 (8), 4401-4412 (2017) PUBMED 28126920 REMARK GeneRIF: Re-expression of CHFR in miR-26a overexpressing cells partially rescues normal mitosis and impairs the tumorigenesis exerted by miR-26a. REFERENCE 5 (residues 1 to 664) AUTHORS Kim M, Kwon YE, Song JO, Bae SJ and Seol JH. TITLE CHFR negatively regulates SIRT1 activity upon oxidative stress JOURNAL Sci Rep 6, 37578 (2016) PUBMED 27883020 REMARK GeneRIF: JNK inhibitor prevents SIRT1 phosphorylation, leading to elevated SIRT1 protein levels even in the presence of H2O2. Taken together, our results indicate that CHFR plays a crucial role in the cellular stress response pathway by controlling the stability and function of SIRT1. Publication Status: Online-Only REFERENCE 6 (residues 1 to 664) AUTHORS Sanbhnani S and Yeong FM. TITLE CHFR: a key checkpoint component implicated in a wide range of cancers JOURNAL Cell. Mol. Life Sci. 69 (10), 1669-1687 (2012) PUBMED 22159584 REMARK GeneRIF: CHFR is thought to contribute towards regulating mitotic entry and possible explanations for contradictory observations published on the functions and regulation of CHFR are presented. [review] Review article REFERENCE 7 (residues 1 to 664) AUTHORS Mizuno K, Osada H, Konishi H, Tatematsu Y, Yatabe Y, Mitsudomi T, Fujii Y and Takahashi T. TITLE Aberrant hypermethylation of the CHFR prophase checkpoint gene in human lung cancers JOURNAL Oncogene 21 (15), 2328-2333 (2002) PUBMED 11948416 REFERENCE 8 (residues 1 to 664) AUTHORS Chaturvedi P, Sudakin V, Bobiak ML, Fisher PW, Mattern MR, Jablonski SA, Hurle MR, Zhu Y, Yen TJ and Zhou BB. TITLE Chfr regulates a mitotic stress pathway through its RING-finger domain with ubiquitin ligase activity JOURNAL Cancer Res. 62 (6), 1797-1801 (2002) PUBMED 11912157 REMARK GeneRIF: Chfr regulates a mitotic stress pathway through its RING-finger domain with ubiquitin ligase activity. REFERENCE 9 (residues 1 to 664) AUTHORS Kang D, Chen J, Wong J and Fang G. TITLE The checkpoint protein Chfr is a ligase that ubiquitinates Plk1 and inhibits Cdc2 at the G2 to M transition JOURNAL J. Cell Biol. 156 (2), 249-259 (2002) PUBMED 11807090 REMARK GeneRIF: checkpoint protein Chfr is a ligase that ubiquitinates Plk1 and inhibits Cdc2 at the G2 to M transition REFERENCE 10 (residues 1 to 664) AUTHORS Scolnick DM and Halazonetis TD. TITLE Chfr defines a mitotic stress checkpoint that delays entry into metaphase JOURNAL Nature 406 (6794), 430-435 (2000) PUBMED 10935642 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP313700.1, AF170724.1, AC127070.10 and BC012072.1. Summary: This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.193923.1, AF170724.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..664 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q24.33" Protein 1..664 /product="E3 ubiquitin-protein ligase CHFR isoform 1" /EC_number="2.3.2.27" /note="RING finger protein 196; checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase; RING-type E3 ubiquitin transferase CHFR" /calculated_mol_wt=73256 Region 16..105 /region_name="FHA" /note="Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins...; cd00060" /db_xref="CDD:238017" Region <31..140 /region_name="FHA" /note="Forkhead associated (FHA) domain, binds pSer, pThr, pTyr [Signal transduction mechanisms]; COG1716" /db_xref="CDD:224630" Site order(42,55,57..58,79..81) /site_type="other" /note="phosphopeptide binding site" /db_xref="CDD:238017" Site 244 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q96EP1.2)" Region 303..346 /region_name="RING" /note="RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in...; cd00162" /db_xref="CDD:238093" Site order(304,307,320,322,325,328,339,342) /site_type="other" /note="cross-brace motif" /db_xref="CDD:238093" Site 386 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q810L3; propagated from UniProtKB/Swiss-Prot (Q96EP1.2)" CDS 1..664 /gene="CHFR" /gene_synonym="RNF116; RNF196" /coded_by="NM_001161344.1:85..2079" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS53849.1" /db_xref="GeneID:55743" /db_xref="HGNC:HGNC:20455" /db_xref="MIM:605209" ORIGIN 1 merpeegkqs pppqpwgrll rlgaeegeph vllrkrewti grrrgcdlsf psnklvsgdh 61 crivvdeksg qvtledtsts gtvinklkvv kkqtcplqtg dviylvyrkn epehnvayly 121 eslsekqgmt qesfeanken vfhgtkdtsg agagrgadpr vppsspatqv cfeepqpsts 181 tsdlfptasa sstepspagr erssscgsgg ggispkgsgp svasdevssf asalpdrkta 241 sfsslepqdq edlepvkkkm rgdgdldlng qllvaqprrn aqtvhedvra aagkpdkmee 301 tltciicqdl lhdcvslqpc mhtfcaacys gwmersslcp tcrcpveric knhilnnlve 361 ayliqhpdks rseedvqsmd arnkitqdml qpkvrrsfsd eegssedlle lsdvdsessd 421 isqpyvvcrq cpeyrrqaaq pphcpapege pgapqalgda pstsvsltta vqdyvcplqg 481 shalctccfq pmpdrraere qdprvapqqc avclqpfchl ywgctrtgcy gclapfceln 541 lgdkcldgvl nnnsyesdil knylatrglt wknmlteslv alqrgvflls dyrvtgdtvl 601 cyccglrsfr eltyqyrqni paselpvavt srpdcywgrn crtqvkahha mkfnhiceqt 661 rfkn // LOCUS NP_001091880 117 aa linear PRI 20-JUN-2020 DEFINITION G antigen 12H [Homo sapiens]. ACCESSION NP_001091880 XP_001130972 VERSION NP_001091880.1 DBSOURCE REFSEQ: accession NM_001098410.1 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 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 2 (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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC142497.3. On May 31, 2007 this sequence version replaced XP_001130972.1. 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 :: HY034593.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142586 [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..117 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xp11.23" Protein 1..117 /product="G antigen 12H" /note="GAGE-12H" /calculated_mol_wt=12793 Region 1..114 /region_name="GAGE" /note="GAGE protein; pfam05831" /db_xref="CDD:283487" CDS 1..117 /gene="GAGE12H" /coded_by="NM_001098410.1:117..470" /db_xref="CCDS:CCDS43948.1" /db_xref="GeneID:729442" /db_xref="HGNC:HGNC:31908" /db_xref="MIM:300732" ORIGIN 1 mswrgrstyy wprprryvqp pemigpmrpe qfsdevepat peegepatqc qdpaaaqkge 61 degasagqgp kpeahsqeqg hpqtgceced gpdgqemdpp npeevktpee gekqsqc // LOCUS NP_112237 169 aa linear PRI 20-JUN-2020 DEFINITION keratin-associated protein 9-9 isoform KRTAP9.5 [Homo sapiens]. ACCESSION NP_112237 XP_931764 XP_942316 VERSION NP_112237.2 DBSOURCE REFSEQ: accession NM_030975.2 KEYWORDS RefSeq. SOURCE Homo 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 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 REVIEWED REFSEQ: This record has been curated by NCBI staff in collaboration with Michael Rogers. The reference sequence was derived from AC006070.1. On Mar 19, 2010 this sequence version replaced NP_112237.1. Summary: This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. Alternative haplotypes of this gene are represented in the GRCh38 reference genome assembly. [provided by RefSeq, Dec 2015]. Transcript Variant: This variant (KRTAP9.5) lacks an in-frame segment of the 5' coding region and includes a base change in the 3' UTR, compared to variant KRTAP9.9. The encoded isoform (KRTAP9.5) is 5 aa shorter than isoform KRTAP9.9. This variant is produced from the primary chromosome 17 assembly unit of the GRCh38 reference genome assembly. Sequence Note: The RefSeq transcript and protein were derived 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. FEATURES Location/Qualifiers source 1..169 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q21.2" Protein 1..169 /product="keratin-associated protein 9-9 isoform KRTAP9.5" /note="keratin-associated protein 9-5; keratin-associated protein 9.5; ultrahigh sulfur keratin-associated protein 9.9" /calculated_mol_wt=17581 Region 4..46 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 12..168 /region_name="Keratin_B2" /note="Keratin, high sulfur B2 protein; pfam01500" /db_xref="CDD:279797" Region 32..76 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 70..119 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" CDS 1..169 /gene="KRTAP9-9" /gene_synonym="KAP9.5; KAP9.9; KRTAP9-5; KRTAP9.9" /coded_by="NM_030975.2:3..512" /note="isoform KRTAP9.5 is encoded by transcript variant KRTAP9.5" /db_xref="CCDS:CCDS54127.1" /db_xref="GeneID:81870" /db_xref="HGNC:HGNC:16773" ORIGIN 1 mthccspccq ptccrttcwk pttvttcsst pccqpsccvs sccqpccrpa ccqntccrtt 61 ccqptcltsc cqpsccsttc cqpiccgssc cgqtscgssc gqssscapvy crrtcyyptt 121 vclpgclnqs cgssccqpcc rpaccettcc rttcfqptcv ssccqpscc // LOCUS NP_001128635 602 aa linear PRI 20-JUN-2020 DEFINITION sialic acid-binding Ig-like lectin 11 isoform 2 precursor [Homo sapiens]. ACCESSION NP_001128635 VERSION NP_001128635.1 DBSOURCE REFSEQ: accession NM_001135163.1 KEYWORDS RefSeq. SOURCE Homo 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 Schwarz F, Landig CS, Siddiqui S, Secundino I, Olson J, Varki N, Nizet V and Varki A. TITLE Paired Siglec receptors generate opposite inflammatory responses to a human-specific pathogen JOURNAL EMBO J. 36 (6), 751-760 (2017) PUBMED 28100677 REMARK GeneRIF: The authors demonstrated that the human-specific pathogen Escherichia coli K1 uses its polysialic acid capsule as a molecular mimic to engage Siglec-11 and escape killing. In contrast, engagement of the activating counterpart Siglec-16 increases elimination of bacteria. REFERENCE 2 (residues 1 to 602) AUTHORS Wang X, Chow R, Deng L, Anderson D, Weidner N, Godwin AK, Bewtra C, Zlotnik A, Bui J, Varki A and Varki N. TITLE Expression of Siglec-11 by human and chimpanzee ovarian stromal cells, with uniquely human ligands: implications for human ovarian physiology and pathology JOURNAL Glycobiology 21 (8), 1038-1048 (2011) PUBMED 21467073 REMARK GeneRIF: The results indicate potential roles for Siglec-11 in ovarian physiology and human evolution. REFERENCE 3 (residues 1 to 602) AUTHORS Wang Y and Neumann H. TITLE Alleviation of neurotoxicity by microglial human Siglec-11 JOURNAL J. Neurosci. 30 (9), 3482-3488 (2010) PUBMED 20203208 REMARK GeneRIF: Siglec-11 ectopically expressed on murine microglia interacts with PSA on neurons, reduces LPS-induced gene transcription of proinflammatory mediators, impairs phagocytosis and alleviates microglial neurotoxicity. REFERENCE 4 (residues 1 to 602) AUTHORS Cao H, Lakner U, de Bono B, Traherne JA, Trowsdale J and Barrow AD. TITLE SIGLEC16 encodes a DAP12-associated receptor expressed in macrophages that evolved from its inhibitory counterpart SIGLEC11 and has functional and non-functional alleles in humans JOURNAL Eur. J. Immunol. 38 (8), 2303-2315 (2008) PUBMED 18629938 REMARK GeneRIF: SIGLEC16 encodes a DAP12-associated receptor expressed in macrophages that evolved from its inhibitory counterpart SIGLEC11 and has functional and non-functional alleles in humans. REFERENCE 5 (residues 1 to 602) AUTHORS Hayakawa T, Angata T, Lewis AL, Mikkelsen TS, Varki NM and Varki A. TITLE A human-specific gene in microglia JOURNAL Science 309 (5741), 1693 (2005) PUBMED 16151003 REMARK GeneRIF: expressed in human but not in chimpanzee brain microglia; findings indicate that human SIGLEC11 emerged through human-specific gene conversion by an adjacent pseudogene REFERENCE 6 (residues 1 to 602) AUTHORS Angata T, Kerr SC, Greaves DR, Varki NM, Crocker PR and Varki A. TITLE Cloning and characterization of human Siglec-11. A recently evolved signaling molecule that can interact with SHP-1 and SHP-2 and is expressed by tissue macrophages, including brain microglia JOURNAL J. Biol. Chem. 277 (27), 24466-24474 (2002) PUBMED 11986327 REMARK GeneRIF: cloning and characterization; a recently evolved signaling that can interact with SHP-1 and SHP-2 and is expressed by tissue macrophages including brain microglia COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF337818.1, AY358135.1 and AC011452.6. Summary: This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin 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. This family member mediates anti-inflammatory and immunosuppressive signaling. Multiple 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 in the mid coding region, compared to variant 1, resulting in an isoform (2) that 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 :: AY358135.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153031 [ECO:0000348] ##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..602 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.33" Protein 1..602 /product="sialic acid-binding Ig-like lectin 11 isoform 2 precursor" /note="siglec-11" /calculated_mol_wt=63223 sig_peptide 1..25 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2613 Region 34..153 /region_name="Ig_Siglec_N" /note="Immunoglobulin (Ig) domain at the N terminus of Siglec (sialic acid-binding Ig-like lectins); cd05712" /db_xref="CDD:143189" Region 39..142 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" Site 55 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96RL6.2)" Site 90 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96RL6.2)" Site order(132,141..142) /site_type="other" /note="ligand binding site [chemical binding]" /db_xref="CDD:143189" Site 262 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96RL6.2)" Region 275..351 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" Region 280..341 /region_name="IGc2" /note="Immunoglobulin C-2 Type; smart00408" /db_xref="CDD:197706" Site 366 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96RL6.2)" Site 375 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96RL6.2)" Region 378..453 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" Region 387..450 /region_name="Ig" /note="Immunoglobulin domain; cd00096" /db_xref="CDD:143165" CDS 1..602 /gene="SIGLEC11" /coded_by="NM_001135163.1:92..1900" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS46150.1" /db_xref="GeneID:114132" /db_xref="HGNC:HGNC:15622" /db_xref="MIM:607157" ORIGIN 1 mvpgqaqpqs pemlllplll pvlgagslnk dpsyslqvqr qvpvpeglcv ivscnlsypr 61 dgwdestaay gywfkgrtsp ktgapvatnn qsrevemstr drfqltgdpg kgscslvird 121 aqredeawyf frvergsrvr hsflsnaffl kvtaltkkpd vyipetlepg qpvtvicvfn 181 wafkkcpaps fswtgaalsp rrtrpstshf svlsftpspq dhdtdltchv dfsrkgvsaq 241 rtvrlrvaya pkdliisish dntsalelqg nviylevqkg qflrllcaad sqppatlswv 301 lqdrvlsssh pwgprtlgle lrgvragdsg rytcraenrl gsqqqaldls vqyppenlrv 361 mvsqanrtvl enlgngtslp vlegqslrlv cvthssppar lswtrwgqtv gpsqpsdpgv 421 lelppiqmeh egeftchaqh plgsqhvsls lsvhwklehg gglglgaalg agvaallafc 481 sclvvfrvki crkearkraa aeqdvpstlg pisqghqhec sagssqdhpp pgaatytpgk 541 geeqelhyas lsfqglrlwe padqeapstt eyseikihtg qplrgpgfgl qleremsgmv 601 pk // LOCUS NP_116564 365 aa linear PRI 20-JUN-2020 DEFINITION nuclear RNA export factor 5 [Homo sapiens]. ACCESSION NP_116564 VERSION NP_116564.2 DBSOURCE REFSEQ: accession NM_032946.2 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 365) 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 REMARK GeneRIF: study of an Australian pedigree in which focal segmental glomerulosclerosis co-segregates with progressive heart block; study found 2 mutations NXF5-R113W and ALG13-T141L segregated with disease phenotype; predicted the NXF5 R113W mutation to be deleterious; cellular studies support a role in the stability and localization of the protein suggesting a causative role REFERENCE 2 (residues 1 to 365) 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 3 (residues 1 to 365) 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 4 (residues 1 to 365) AUTHORS Frints SG, Jun L, Fryns JP, Devriendt K, Teulingkx R, Van den Berghe L, De Vos B, Borghgraef M, Chelly J, Des Portes V, Van Bokhoven H, Hamel B, Ropers HH, Kalscheuer V, Raynaud M, Moraine C, Marynen P and Froyen G. TITLE Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene JOURNAL Am. J. Med. Genet. A 119A (3), 367-374 (2003) PUBMED 12784308 REMARK GeneRIF: Mutations of the NXF5 gene is associated with X-linked mental retardation REFERENCE 5 (residues 1 to 365) AUTHORS Jun L, Frints S, Duhamel H, Herold A, Abad-Rodrigues J, Dotti C, Izaurralde E, Marynen P and Froyen G. TITLE NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation JOURNAL Curr. Biol. 11 (18), 1381-1391 (2001) PUBMED 11566096 REFERENCE 6 (residues 1 to 365) AUTHORS Herold A, Suyama M, Rodrigues JP, Braun IC, Kutay U, Carmo-Fonseca M, Bork P and Izaurralde E. TITLE TAP (NXF1) belongs to a multigene family of putative RNA export factors with a conserved modular architecture JOURNAL Mol. Cell. Biol. 20 (23), 8996-9008 (2000) PUBMED 11073998 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AJ277654.1 and BC131708.1. This sequence is a reference standard in the RefSeqGene project. On Jul 17, 2009 this sequence version replaced NP_116564.1. Summary: This gene is one member of a family of nuclear RNA export factor genes. The encoded protein can bind RNA, and is implicated in mRNA nuclear export. However, this protein has lost several C-terminal protein domains found in other family members that are required for export activity, and may be an evolving pseudogene. Alternatively spliced transcript variants have been described, but most are candidates for nonsense-mediated decay (NMD) and may not express proteins in vivo. [provided by RefSeq, Jul 2009]. Transcript Variant: This variant (1) represents the shortest transcript and is protein-coding. ##Evidence-Data-START## CDS exon combination :: BC131708.1 [ECO:0000331] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..365 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq22.1" Protein 1..365 /product="nuclear RNA export factor 5" /note="TAPL-1; TAP-like protein 1" /calculated_mol_wt=42031 Region 11..92 /region_name="Tap-RNA_bind" /note="Tap, RNA-binding; pfam09162" /db_xref="CDD:312616" Region 118..160 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275382" Region 160..185 /region_name="LRR 1" /note="propagated from UniProtKB/Swiss-Prot (Q9H1B4.1)" Region 161..186 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275382" Region 186..209 /region_name="LRR 2" /note="propagated from UniProtKB/Swiss-Prot (Q9H1B4.1)" Region 187..210 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275382" Region 210..237 /region_name="LRR 3" /note="propagated from UniProtKB/Swiss-Prot (Q9H1B4.1)" Region 211..241 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275382" Region 238..265 /region_name="LRR 4" /note="propagated from UniProtKB/Swiss-Prot (Q9H1B4.1)" CDS 1..365 /gene="NXF5" /coded_by="NM_032946.2:361..1458" /db_xref="CCDS:CCDS14491.2" /db_xref="GeneID:55998" /db_xref="HGNC:HGNC:8075" /db_xref="MIM:300319" ORIGIN 1 mrrntqdenm rkwfkvtipy gikydkawlm nsiqsncsvp ftpvdfhyir nracffvqva 61 saasalkdvs ykiyddenqk icifvshfta pysvknklkp gqmemlkltm nkrynvsqqa 121 ldlqnlrfdp dlmgrdidii lnrrncmaat lkiternfpe llslnlcnnk lyqldglsdi 181 tekapkvktl nlsknklesa welgkvkglk leelwlegnp lcstfsdqsa yvsairdcfp 241 kllrldgrel sapvivdids setmkpcken ftgsetlkhl vlqflqqsnl ckyfkdsrni 301 kilkdpylqr kllkhtkcpr nvdslsalpe tqhdftsilv dmwyqtvntc flpragpesq 361 slrpl // LOCUS NP_001094859 229 aa linear PRI 20-JUN-2020 DEFINITION putative claudin-25 [Homo sapiens]. ACCESSION NP_001094859 XP_932870 XP_943489 VERSION NP_001094859.1 DBSOURCE REFSEQ: accession NM_001101389.1 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 229) AUTHORS Berndt P, Winkler L, Cording J, Breitkreuz-Korff O, Rex A, Dithmer S, Rausch V, Blasig R, Richter M, Sporbert A, Wolburg H, Blasig IE and Haseloff RF. TITLE Tight junction proteins at the blood-brain barrier: far more than claudin-5 JOURNAL Cell. Mol. Life Sci. 76 (10), 1987-2002 (2019) PUBMED 30734065 REFERENCE 2 (residues 1 to 229) AUTHORS Lal-Nag M and Morin PJ. TITLE The claudins JOURNAL Genome Biol. 10 (8), 235 (2009) PUBMED 19706201 REMARK Review article REFERENCE 3 (residues 1 to 229) AUTHORS Krause G, Winkler L, Mueller SL, Haseloff RF, Piontek J and Blasig IE. TITLE Structure and function of claudins JOURNAL Biochim. Biophys. Acta 1778 (3), 631-645 (2008) PUBMED 18036336 REMARK Review article REFERENCE 4 (residues 1 to 229) AUTHORS Katoh M and Katoh M. TITLE CLDN23 gene, frequently down-regulated in intestinal-type gastric cancer, is a novel member of CLAUDIN gene family JOURNAL Int. J. Mol. Med. 11 (6), 683-689 (2003) PUBMED 12736707 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 CH471065.1. On or before Oct 4, 2007 this sequence version replaced XP_932870.1, XP_943489.1. 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. [provided by RefSeq, Jun 2010]. Sequence Note: This RefSeq record was created from genomic sequence data because no transcript was available for the gene. The extent of this transcript is supported by orthologous data. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..229 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11q23.2" Protein 1..229 /product="putative claudin-25" /calculated_mol_wt=25263 Site 11..31 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (C9JDP6.1)" Region 26..183 /region_name="PMP22_Claudin" /note="PMP-22/EMP/MP20/Claudin family; cl21598" /db_xref="CDD:304458" Site 82..102 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (C9JDP6.1)" Site 125..145 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (C9JDP6.1)" Site 165..185 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (C9JDP6.1)" CDS 1..229 /gene="CLDN25" /coded_by="NM_001101389.1:1..690" /db_xref="CCDS:CCDS44736.1" /db_xref="GeneID:644672" /db_xref="HGNC:HGNC:37218" ORIGIN 1 mawsfrakvq lgglllsllg wvcscvttil pqwktlnlel nemetwimgi wevcvdreev 61 atvckafesf lslpqelqva rilmvashgl gllglllcsf gsecfqfhri rwvfkrrlgl 121 lgrtleasas attllpvswv ahatiqdfwd dsipdiiprw efggalylgw aagiflalgg 181 lllifsaclg kedvpfplma gptvplscap veesdgsfhl mlrprnlvi // LOCUS NP_001152996 412 aa linear PRI 20-JUN-2020 DEFINITION putative zinc finger protein 735 [Homo sapiens]. ACCESSION NP_001152996 XP_001719670 XP_001719703 XP_002344394 XP_002346921 VERSION NP_001152996.1 DBSOURCE REFSEQ: accession NM_001159524.1 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 412) AUTHORS Imbeault M, Helleboid PY and Trono D. TITLE KRAB zinc-finger proteins contribute to the evolution of gene regulatory networks JOURNAL Nature 543 (7646), 550-554 (2017) PUBMED 28273063 REFERENCE 2 (residues 1 to 412) AUTHORS Wang J, Wang J and Tian CY. TITLE Evolution of KRAB-containing zinc finger proteins and their roles in species evolution JOURNAL Yi Chuan 38 (11), 971-978 (2016) PUBMED 27867147 REMARK Review article REFERENCE 3 (residues 1 to 412) AUTHORS Wang W, Cai J, Lin Y, Liu Z, Ren Q, Hu L, Huang Z, Guo M and Li W. TITLE Zinc fingers function cooperatively with KRAB domain for nuclear localization of KRAB-containing zinc finger proteins JOURNAL PLoS ONE 9 (3), e92155 (2014) PUBMED 24647005 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 412) AUTHORS Razin SV, Borunova VV, Maksimenko OG and Kantidze OL. TITLE Cys2His2 zinc finger protein family: classification, functions, and major members JOURNAL Biochemistry Mosc. 77 (3), 217-226 (2012) PUBMED 22803940 REMARK Review article COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC104094.4 and AC073270.6. On or before Jul 18, 2009 this sequence version replaced XP_001719670.1, XP_001719703.1, XP_002344394.1, XP_002346921.1. Summary: This gene encodes a kruppel-associated box-containing zinc finger protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and nine C-terminal C2H2-type zinc finger domains. The KRAB-ZFPs represent the largest family of mammalian transcriptional repressors, which function through the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to engage histone modifiers and induce heterochromatin formation. [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. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..412 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q11.21" Protein 1..412 /product="putative zinc finger protein 735" /note="zinc finger protein 735 pseudogene" /calculated_mol_wt=47435 Region 16..76 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 16..55 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" Region 160..179 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region <167..372 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 187..207 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(187,190,203,207) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 199..224 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 215..235 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(215,218,231,235) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 243..263 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(243,246,259,263) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(248,250,252,254..255,258..259,262,276,278,282..283, 286..287,290,304,306,308,310..311,314..315,318) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 255..280 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 271..291 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(271,274,287,291) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 284..307 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 299..319 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(299,302,315,319) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 311..336 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 327..347 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(327,330,343,347) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 340..364 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region <351..>412 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 355..375 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(355,358,371,375) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 368..391 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 383..403 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(383,386,399,403) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..412 /gene="ZNF735" /gene_synonym="ZNF735P" /coded_by="NM_001159524.1:1..1239" /db_xref="CCDS:CCDS78236.1" /db_xref="GeneID:730291" /db_xref="HGNC:HGNC:32466" ORIGIN 1 makrpgppgs remglltfrd iaiefslaew qcldhaqqnl yrdvmlenyr nlfslgmtvs 61 kpdliacleq nkepqnikrn emaakhpvtc shfnqdlqpe qsikdslqkv iprtygkcgh 121 enlqlkkcck rvdecevhkg gyndlnqcls ntqnkifqth kcvkvfskfs nsnrhnaryt 181 gkkhlkckky gksfcmfshl nqhqiihtke ksykceecgk sfnhsssgtt hkriltgekp 241 yrceecgkaf rwpsnltrhk rihtgekpya ceecgqafrr sstltnhkri htgerpykce 301 ecgkafsvss aliyhkriht gekpytceec gkafncsstl kthkiihtge kpytceecgr 361 tfncsstvka hkrihtgekp ykceecdkaf kwhsslakhk iihtgekpyk ck // LOCUS NP_115783 878 aa linear PRI 20-JUN-2020 DEFINITION protocadherin gamma-C5 isoform 2 precursor [Homo sapiens]. ACCESSION NP_115783 VERSION NP_115783.1 DBSOURCE REFSEQ: accession NM_032407.1 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 878) 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 878) 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 878) 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 878) 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 878) 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 AF152526.1. 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 :: AF152526.1, BC112081.1 [ECO:0000345] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..878 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q31.3" Protein 1..878 /product="protocadherin gamma-C5 isoform 2 precursor" /note="protocadherin gamma-C5" /calculated_mol_wt=92017 sig_peptide 1..29 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3194 mat_peptide 30..878 /product="protocadherin gamma-C5 isoform 2" /calculated_mol_wt=92017 Region 30..111 /region_name="Cadherin_2" /note="Cadherin-like; pfam08266" /db_xref="CDD:285466" Site order(37..38,91,93,125,127..128) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 139..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..346 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(253..254,309,311,342,344..345) /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 (Q9Y5F6.1)" Region 359..450 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(361..362,413,415,446,448..449) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Site 443 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9Y5F6.1)" Region 459..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 (Q9Y5F6.1)" Region 578..670 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(581..582,635,637,668,670) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 689..791 /region_name="Cadherin_C_2" /note="Cadherin cytoplasmic C-terminal; pfam16492" /db_xref="CDD:293101" Site 694..714 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y5F6.1)" CDS 1..878 /gene="PCDHGC5" /gene_synonym="PCDH-GAMMA-C5" /coded_by="NM_032407.1:1..2637" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS75350.1" /db_xref="GeneID:56097" /db_xref="HGNC:HGNC:8718" /db_xref="MIM:606306" ORIGIN 1 mgpktlpqla gkwqvlcmls lccwgwvsgq lrysvveese pgtlvgnvaq dlglkmtdll 61 srrlqlgsee ngryfslslm sgalavnqki dreslcgast scllpvqvvt ehplelirve 121 veildlndns psfatperem risesaasga rfpldsaqdp dvgtntvsfy tlspnshfsl 181 nvktlkdgkp fpelvleqql dreaqarhql vltavdggtp arsgttlisv ivldindnap 241 tfqssvlrvg ipenapigtl llrlnatdpd egtngqldys fgdhtseavr nlfgldpssg 301 aihvlgpidf eesrfyeiha rardqgqpam eghcviqvdv gdvndnapev llaslanpvl 361 estpvgtvvg lfnvrdrdsg rngevsldis pdlpfqikps enhyslltsq pldreatshy 421 iiellasdag spslhkhlti rlnisdvndn aprfnqqlyt ayilenrppg sllctvaasd 481 pdtgdnarlt ysivgnqvqg apassfvyvn pedgrifaqr tfdyellqml qivvgvrdsg 541 spplhantsl hvfvldendn apavlhprpd wehsapqrlp rsappgslvt kvtavdadag 601 hnawlsysll pqstapglfl vsthtgevrt aralleddsd tqqvvvlvrd ngdpslssta 661 tvllvleded peempkssdf lihppersdl tlylivalat vsllslvtft flsakclqgn 721 adgdggggqc crrqdspspd fykqsspnlq vssdgtlkym evtlrptdsq shcyrtcfsp 781 asdgsdftfl rplsvqqpta lalepdairs rsntlrersq vrgsapprat pgggtgeaar 841 phkglnlhpl lsgrlgrwlr strfsgsldr lretrvad // LOCUS NP_115271 820 aa linear PRI 20-JUN-2020 DEFINITION protocadherin gamma-B6 isoform 2 precursor [Homo sapiens]. ACCESSION NP_115271 VERSION NP_115271.1 DBSOURCE REFSEQ: accession NM_032100.1 KEYWORDS RefSeq. SOURCE Homo 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 Powrozek T, Krawczyk P, Kuznar-Kaminska B, Batura-Gabryel H and Milanowski J. TITLE Analysis of RTEL1 and PCDHGB6 promoter methylation in circulating-free DNA of lung cancer patients using liquid biopsy: A pilot study JOURNAL Exp. Lung Res. 42 (6), 307-313 (2016) PUBMED 27485611 REMARK GeneRIF: promoter methylation found in 41.4% of lung cancer patients and in 1.3% of healthy individuals REFERENCE 2 (residues 1 to 820) AUTHORS Sandoval J, Mendez-Gonzalez J, Nadal E, Chen G, Carmona FJ, Sayols S, Moran S, Heyn H, Vizoso M, Gomez A, Sanchez-Cespedes M, Assenov Y, Muller F, Bock C, Taron M, Mora J, Muscarella LA, Liloglou T, Davies M, Pollan M, Pajares MJ, Torre W, Montuenga LM, Brambilla E, Field JK, Roz L, Lo Iacono M, Scagliotti GV, Rosell R, Beer DG and Esteller M. TITLE A prognostic DNA methylation signature for stage I non-small-cell lung cancer JOURNAL J. Clin. Oncol. 31 (32), 4140-4147 (2013) PUBMED 24081945 REMARK GeneRIF: hypermethylation of HIST1H4F, PCDHGB6, NPBWR1, ALX1, and HOXA9 was significantly associated with shorter survival in stage 1 Non-small-cell lung cancer REFERENCE 3 (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 4 (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 5 (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 6 (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 7 (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 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF152522.1. 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 :: AF152522.1 [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-B6 isoform 2 precursor" /note="protocadherin gamma-B6" /calculated_mol_wt=86438 sig_peptide 1..30 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3346 mat_peptide 31..820 /product="protocadherin gamma-B6 isoform 2" /calculated_mol_wt=86438 Region 32..112 /region_name="Cadherin_2" /note="Cadherin-like; pfam08266" /db_xref="CDD:285466" Site order(39..40,91,93,125,127..128) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" 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 304 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9Y5F9.1)" 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 (Q9Y5F9.1)" 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 (Q9Y5F9.1)" Region 578..662 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Region 687..768 /region_name="Cadherin_C_2" /note="Cadherin cytoplasmic C-terminal; pfam16492" /db_xref="CDD:293101" Site 692..712 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y5F9.1)" CDS 1..820 /gene="PCDHGB6" /gene_synonym="PCDH-GAMMA-B6" /coded_by="NM_032100.1:1..2463" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS75342.1" /db_xref="GeneID:56100" /db_xref="HGNC:HGNC:8713" /db_xref="MIM:606303" ORIGIN 1 mggscaqrrr agprqvlfpl llplfyptls epirysipee lakgsvvgnl akdlglsvld 61 vsarklrvsa eklhfsvdae sgdllvknri dreqickerr rcelqleavv enplnifhvi 121 vviedvndha pqfdkkeihl eifesasagt rlsldpatdp dininsikdy kinsnpyfsl 181 mvrvnsdggk ypelslekll dreeqrshsl iltaldggdp prsatahiei svkdtndnpp 241 vfsrdeyris lsenlppgsp vlqvtatdqd egvnaeinyy frstaqstkh mfsldektgm 301 iknnqsfdfe dverytmeve akdggglstq ckviieilde ndnspeiiit slsdqilens 361 ppgmvvalfk trdldfggng evrcnietdi pfkiysssnn yyklvtdgal dreqtpeynv 421 tivatdrgkp plsssrsitl yvadindnap vfdqtsyvvh vaennppgas iaqvsasdpd 481 lglnghisys ivasdlepla vssyvsvsaq sgvvfaqraf dheqlrafal tlqardhgsp 541 tlsanvslrv lvgdrndnap rvlypalgpd gsaffdmvpr saepgylvtk vvavdadsgh 601 nawlsyhvlq asepglfslg lrtgevrtar algdrdaarq rllvavrdgg qpplsatatl 661 hlvfadnlqe ilpdlsdrpv lsdpqaelqf ylvvalalis vlfllavila ialrlrrsls 721 patwdcfhpg lcvksgpvvp pnysegtlpy synlciahtg tkefnflkcs vplhsnedmv 781 csvspgalip phggedltsh petltsvsfs flcviylivy // LOCUS NP_001171664 194 aa linear PRI 20-JUN-2020 DEFINITION astrotactin-2 isoform f [Homo sapiens]. ACCESSION NP_001171664 VERSION NP_001171664.1 DBSOURCE REFSEQ: accession NM_001184735.1 KEYWORDS RefSeq. SOURCE Homo 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 Behesti H, Fore TR, Wu P, Horn Z, Leppert M, Hull C and Hatten ME. TITLE ASTN2 modulates synaptic strength by trafficking and degradation of surface proteins JOURNAL Proc. Natl. Acad. Sci. U.S.A. 115 (41), E9717-E9726 (2018) PUBMED 30242134 REMARK GeneRIF: ASTN2 localizes primarily to endocytic and autophagocytic vesicles in the cell soma and in subsets of dendritic spines REFERENCE 2 (residues 1 to 194) AUTHORS An XK, Fang J, Yu ZZ, Lin Q, Lu CX, Qu HL and Ma QL. TITLE Multilocus analysis reveals three candidate genes for Chinese migraine susceptibility JOURNAL Clin. Genet. 92 (2), 143-149 (2017) PUBMED 28058730 REMARK GeneRIF: Our study suggests that the MEF2D, PRDM16 and ASTN2 genes from GWAS are associated with migraine susceptibility, especially migraine without aura , among Chinese patients. It appears that there is no association with serotonin receptor related genes. REFERENCE 3 (residues 1 to 194) AUTHORS Freitag CM, Lempp T, Nguyen TT, Jacob CP, Weissflog L, Romanos M, Renner TJ, Walitza S, Warnke A, Rujescu D, Lesch KP and Reif A. TITLE The role of ASTN2 variants in childhood and adult ADHD, comorbid disorders and associated personality traits JOURNAL J Neural Transm (Vienna) 123 (8), 849-858 (2016) PUBMED 27138430 REMARK GeneRIF: The findings of this study do not support a major role of ASTN2 variants in ADHD or its comorbid disorders respective aADHD associated personality traits. REFERENCE 4 (residues 1 to 194) AUTHORS Ni T, Harlos K and Gilbert R. TITLE Structure of astrotactin-2: a conserved vertebrate-specific and perforin-like membrane protein involved in neuronal development JOURNAL Open Biol 6 (5) (2016) PUBMED 27249642 REMARK GeneRIF: Results present the structure of ASTN-2 consisting of a combination of polypeptide folds: a perforin-like domain, a minimal epidermal growth factor-like module, a unique form of fibronectin type III domain and an annexin-like domain. Structural and biophysical data show that ASTN-2 binds inositol triphosphates, suggesting a mechanism for membrane recognition or secondary messenger regulation of its activity. REFERENCE 5 (residues 1 to 194) AUTHORS Rivers C, Idris J, Scott H, Rogers M, Lee YB, Gaunt J, Phylactou L, Curk T, Campbell C, Ule J, Norman M and Uney JB. TITLE iCLIP identifies novel roles for SAFB1 in regulating RNA processing and neuronal function JOURNAL BMC Biol. 13, 111 (2015) PUBMED 26694817 REMARK GeneRIF: The expression of coding and non-coding genes with SAFB1 cross-link sites was altered by SAFB1 knockdown. The isoform-specific expression of neural cell adhesion molecule (NCAM1) and ASTN2 was influenced by SAFB1. Publication Status: Online-Only REFERENCE 6 (residues 1 to 194) AUTHORS Siedlinski M, Cho MH, Bakke P, Gulsvik A, Lomas DA, Anderson W, Kong X, Rennard SI, Beaty TH, Hokanson JE, Crapo JD and Silverman EK. CONSRTM COPDGene Investigators; ECLIPSE Investigators TITLE Genome-wide association study of smoking behaviours in patients with COPD JOURNAL Thorax 66 (10), 894-902 (2011) PUBMED 21685187 REFERENCE 7 (residues 1 to 194) AUTHORS Adkins DE, Aberg K, McClay JL, Bukszar J, Zhao Z, Jia P, Stroup TS, Perkins D, McEvoy JP, Lieberman JA, Sullivan PF and van den Oord EJ. TITLE Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs JOURNAL Mol. Psychiatry 16 (3), 321-332 (2011) PUBMED 20195266 REMARK GeneRIF: Clinical trial and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 8 (residues 1 to 194) 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 REMARK GeneRIF: Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 9 (residues 1 to 194) AUTHORS Lesch KP, Timmesfeld N, Renner TJ, Halperin R, Roser C, Nguyen TT, Craig DW, Romanos J, Heine M, Meyer J, Freitag C, Warnke A, Romanos M, Schafer H, Walitza S, Reif A, Stephan DA and Jacob C. TITLE Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies JOURNAL J Neural Transm (Vienna) 115 (11), 1573-1585 (2008) PUBMED 18839057 REMARK GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 10 (residues 1 to 194) 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) COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA015423.1, BC010680.2, AK024064.1 and AL133284.13. Summary: This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]. Transcript Variant: This variant (6) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and lead to translation initiation at an alternate start codon, compared to variant 1. The encoded isoform (f) 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## RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..194 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q33.1" Protein 1..194 /product="astrotactin-2 isoform f" /calculated_mol_wt=21576 Region <1..87 /region_name="MACPF" /note="MAC/Perforin domain; cl02616" /db_xref="CDD:295395" CDS 1..194 /gene="ASTN2" /gene_synonym="bA67K19.1" /coded_by="NM_001184735.1:237..821" /note="isoform f is encoded by transcript variant 6" /db_xref="CCDS:CCDS55334.1" /db_xref="GeneID:23245" /db_xref="HGNC:HGNC:17021" /db_xref="MIM:612856" ORIGIN 1 mpfitylsgl ltaqmlsddq lisgveirce ekgrcpstch lcrrpgkeql sptpvllein 61 rvvplytliq dngtkeafks almssywcsg kgdviddwcr cdlsafdang lpncspllqp 121 vlrlsptvep sstvvslewv dvqpaigtkv sdyilqhkkv deytdtdlyt vycwitfidl 181 rilnqpcipg mkpt // LOCUS NP_001005239 326 aa linear PRI 20-JUN-2020 DEFINITION olfactory receptor 11H1 [Homo sapiens]. ACCESSION NP_001005239 VERSION NP_001005239.1 DBSOURCE REFSEQ: accession NM_001005239.1 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 326) 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 326) 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 AB065933.1. 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..326 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="22" /map="22q11.1" Protein 1..326 /product="olfactory receptor 11H1" /note="olfactory receptor OR22-1; seven transmembrane helix receptor" /calculated_mol_wt=36447 Site 13 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NG94.3)" Site 18 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NG94.3)" Site 45..65 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG94.3)" Region 46..320 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 56..305 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 73..93 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG94.3)" Site 106 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NG94.3)" Site 113..133 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG94.3)" Site 159..179 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG94.3)" Site 217..237 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG94.3)" Site 260..280 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG94.3)" Site 288..308 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG94.3)" CDS 1..326 /gene="OR11H1" /gene_synonym="OR11H12; OR22-1" /coded_by="NM_001005239.1:1..981" /db_xref="CCDS:CCDS74807.1" /db_xref="GeneID:81061" /db_xref="HGNC:HGNC:15404" ORIGIN 1 mcpltlqvtg lmnvsepnss fafvnefilq gfscewtiqi flfslfttty altitgngai 61 afvlwcdrrl htpmymflgn fsfleiwyvs stvpkmlvnf lsekknisfa gcflqfyfff 121 slgtseclll tvmafdqyla icrpllypni mtghlyaklv ilcwvcgflw flipivlisq 181 mpfcgpniid hvvcdpgprf aldcvsapri qlfcytlssl vifgnflfii gsytlvlkam 241 lgmpsstgrh kafstcgshl avvslcyssl mvmyvspglg hstgmqkiet lfyamvtplf 301 npliyslqnk eikaalrkvl gssnii // LOCUS NP_001192195 64 aa linear PRI 20-JUN-2020 DEFINITION beta-defensin 4B precursor [Homo sapiens]. ACCESSION NP_001192195 XP_002342852 VERSION NP_001192195.1 DBSOURCE REFSEQ: accession NM_001205266.1 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 64) AUTHORS Wang Y, Anderson EP and Tatakis DN. TITLE Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes JOURNAL J. Periodontol. 91 (6), 756-766 (2020) PUBMED 31682009 REMARK GeneRIF: DEFB4B expression is significantly downregulated in healthy palatal mucosa of smokers REFERENCE 2 (residues 1 to 64) AUTHORS Bals R, Wang X, Wu Z, Freeman T, Bafna V, Zasloff M and Wilson JM. TITLE Human beta-defensin 2 is a salt-sensitive peptide antibiotic expressed in human lung JOURNAL J. Clin. Invest. 102 (5), 874-880 (1998) PUBMED 9727055 REMARK GeneRIF: The encoded peptide has antimicrobial activity against E.coli, S. aureus, and P. aeruginosa. COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BE714509.1, BE714502.1 and AC130360.4. On Apr 7, 2011 this sequence version replaced XP_002342852.1. Summary: Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Oct 2014]. ##Evidence-Data-START## Transcript exon combination :: BE714502.1, BE181080.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2154405, SAMN03465420 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## Protein has antimicrobial activity :: PMID: 9727055 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..64 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="8" /map="8p23.1" Protein 1..64 /product="beta-defensin 4B precursor" /note="defensin, beta 4, pseudogene; beta defensin 2" /calculated_mol_wt=4334 sig_peptide 1..23 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2721 mat_peptide 27..64 /product="beta-defensin 4B" /experiment="DESCRIPTION:antimicrobial peptide[PMID: 9727055]" /calculated_mol_wt=4107 Region 28..62 /region_name="Defensin_beta" /note="Beta defensin; pfam00711" /db_xref="CDD:366260" CDS 1..64 /gene="DEFB4B" /gene_synonym="DEFB4P" /coded_by="NM_001205266.1:6..200" /db_xref="CCDS:CCDS55193.1" /db_xref="GeneID:100289462" /db_xref="HGNC:HGNC:30193" ORIGIN 1 mrvlyllfsf lfiflmplpg vfggigdpvt clksgaichp vfcprrykqi gtcglpgtkc 61 ckkp // LOCUS NP_115782 871 aa linear PRI 20-JUN-2020 DEFINITION protocadherin gamma-C4 isoform 2 precursor [Homo sapiens]. ACCESSION NP_115782 VERSION NP_115782.1 DBSOURCE REFSEQ: accession NM_032406.1 KEYWORDS RefSeq. SOURCE Homo 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 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 871) 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 871) 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 871) 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 871) 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 AF152525.1. 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 :: BC101035.1, AF152525.1 [ECO:0000345] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..871 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q31.3" Protein 1..871 /product="protocadherin gamma-C4 isoform 2 precursor" /note="protocadherin gamma-C4" /calculated_mol_wt=90849 sig_peptide 1..29 /calculated_mol_wt=3646 mat_peptide 30..871 /product="protocadherin gamma-C4 isoform 2" /calculated_mol_wt=90849 Region 30..111 /region_name="E_set" /note="Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus; cl09101" /db_xref="CDD:324323" 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" Region 246..346 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(253..254,309,311,342,344..345) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 358..451 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(361..362,414,416,447,449..450) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 461..561 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(466..467,524,526,557,559..560) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 580..666 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" CDS 1..871 /gene="PCDHGC4" /gene_synonym="PCDH-GAMMA-C4" /coded_by="NM_032406.1:1..2616" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS75349.1" /db_xref="GeneID:56098" /db_xref="HGNC:HGNC:8717" /db_xref="MIM:606305" ORIGIN 1 mlrkvrswte iwrwatllfl fyhlgyvcgq irypvpeesq egtfvgnvaq dflldtdsls 61 arrlqvagev nqrhfrvdld sgalliknpi drealcglsa scivplefvt egplemyrae 121 veivdvndha prfprqqldl eigeaappgq rfplekaqda dvgsnsissy rlssnehfal 181 dvkkrsdgsl vpelllekpl drekqsdyrl vltavdggnp prsgtaelrv svldvndnap 241 afqqssyris vlesapagmv liqlnasdpd lgpsgnvtfy fsghtpdrvr nlfslhpttg 301 kltllgpldf esenyyefdv rardggspam eqhcslrvdl ldvndnapyi tvtselgtlp 361 esaepgtvva lisvqdpdsg sngdvslrip dhlpfalksa frnqfslvta gpldreakss 421 ydimvtasda gnpplsthrt iflnisdvnd nppsffqrsh evfvpennrp gdllcslaas 481 dpdsglnali syslleprnr dvsassfisl npqtgavhat rsfdyeqtqt lqfevqardr 541 gnpplsstvt vrlfvldlnd napavlrpra rpgslcpqal ppsvgaghli tkvtavdlds 601 gynawvsyql leapdpslfa vsryagevrt avpipadlpp qklvivvkds gspplstsvt 661 llvsleedth pvvpdlress apregesrlt lylavslvai cfvsfgsfva llskclrgaa 721 cgvtcfpagt cacltrsrrr eglppsngil riqlgsddpi kfvdvgghsh gctplasapt 781 rsdsfmmvks psapmagepv rpscppsdll yglevrplqa qqmlegysdp giwlghvles 841 tglsvsahsd vtifvrgnyv vdavlcncfv n // LOCUS NP_859055 39 aa linear PRI 20-JUN-2020 DEFINITION B melanoma antigen 4 precursor [Homo sapiens]. ACCESSION NP_859055 VERSION NP_859055.1 DBSOURCE REFSEQ: accession NM_181704.1 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 39) AUTHORS Ruault M, Ventura M, Galtier N, Brun ME, Archidiacono N, Roizes G and De Sario A. TITLE BAGE genes generated by juxtacentromeric reshuffling in the Hominidae lineage are under selective pressure JOURNAL Genomics 81 (4), 391-399 (2003) PUBMED 12676563 REFERENCE 2 (residues 1 to 39) AUTHORS Ruault M, van der Bruggen P, Brun ME, Boyle S, Roizes G and De Sario A. TITLE New BAGE (B melanoma antigen) genes mapping to the juxtacentromeric regions of human chromosomes 13 and 21 have a cancer/testis expression profile JOURNAL Eur. J. Hum. Genet. 10 (12), 833-840 (2002) PUBMED 12461691 REFERENCE 3 (residues 1 to 39) AUTHORS Boel P, Wildmann C, Sensi ML, Brasseur R, Renauld JC, Coulie P, Boon T and van der Bruggen P. TITLE BAGE: a new gene encoding an antigen recognized on human melanomas by cytolytic T lymphocytes JOURNAL Immunity 2 (2), 167-175 (1995) PUBMED 7895173 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AF339515.1. ##Evidence-Data-START## Transcript exon combination :: AF339515.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## NMD candidate :: translation inferred from conservation RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..39 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21p11.1" Protein 1..39 /product="B melanoma antigen 4 precursor" /note="MLL3 pseudogene; cancer/testis antigen family 2, member 4; cancer/testis antigen 2.4; B melanoma antigen 4; B melanoma antigen family member 4" /calculated_mol_wt=2573 sig_peptide 1..17 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1675 CDS 1..39 /gene="BAGE4" /gene_synonym="CT2.4; MLL3P" /coded_by="NM_181704.1:189..308" /db_xref="GeneID:85317" /db_xref="HGNC:HGNC:15730" ORIGIN 1 maagavflal saqllqarlm keespvvsww lepedgtal // LOCUS NP_001004461 314 aa linear PRI 20-JUN-2020 DEFINITION olfactory receptor 10A6 [Homo sapiens]. ACCESSION NP_001004461 XP_372373 VERSION NP_001004461.1 DBSOURCE REFSEQ: accession NM_001004461.1 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 314) 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 314) 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 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 PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AB065515.1. On Sep 18, 2004 this sequence version replaced XP_372373.1. 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. 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. ##RefSeq-Attributes-START## polymorphic pseudogene :: PMID: 22908908 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 10A6" /note="olfactory receptor OR11-96; olfactory receptor, family 10, subfamily A, member 6" /calculated_mol_wt=35187 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NH74.1)" Site 26..46 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH74.1)" Region 31..304 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Site 55..75 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH74.1)" Site 100..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH74.1)" Site 140..160 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH74.1)" Site 198..217 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH74.1)" Site 238..258 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH74.1)" Site 272..292 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH74.1)" CDS 1..314 /gene="OR10A6" /gene_synonym="OR11-96" /coded_by="NM_001004461.1:1..945" /db_xref="GeneID:390093" /db_xref="HGNC:HGNC:15132" ORIGIN 1 merqnqscvv efillgfsny pelqgqlfva flviylvtli gnaiiivivs ldqslhvpmy 61 lfllnlsvvd lsfsavimpe mlvvlstekt tisfggcfaq myfillfgga ecfllgamay 121 drfaaichpl nyqmimnkgv fmkliifswa lgfmlgtvqt swvssfpfcg lneinhisce 181 tpavlelaca dtflfeiyaf tgtfliilvp fllillsyir vlfailkmps ttgrqkafst 241 caahltsvtl fygtasmtyl qpksgyspet kkvmslsysl ltpllnlliy slrnsemkra 301 lmklwrrrvv lhti // LOCUS NP_115267 811 aa linear PRI 20-JUN-2020 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:311943" 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:318652" 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_001012998 632 aa linear PRI 20-JUN-2020 DEFINITION spermidine/spermine N(1)-acetyltransferase-like protein 1 isoform 3 [Homo sapiens]. ACCESSION NP_001012998 XP_291339 VERSION NP_001012998.2 DBSOURCE REFSEQ: accession NM_001012980.2 KEYWORDS RefSeq. SOURCE Homo 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 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 Z99571.2 and BC043215.1. This sequence is a reference standard in the RefSeqGene project. On Jul 23, 2009 this sequence version replaced NP_001012998.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because transcript data was not available for the full length of the gene. The extent of this transcript is supported by orthologous data. ##Evidence-Data-START## Transcript exon combination :: BC043215.1, BC126401.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..632 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq21.1" Protein 1..632 /product="spermidine/spermine N(1)-acetyltransferase-like protein 1 isoform 3" /note="spermidine/spermine N(1)-acetyltransferase-like protein 1" /calculated_mol_wt=68399 Region <81..508 /region_name="Glutenin_hmw" /note="High molecular weight glutenin subunit; pfam03157" /db_xref="CDD:281191" Region 552..553 /region_name="Substrate binding. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q86VE3.4)" Region 618..620 /region_name="Acetyl-CoA binding. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q86VE3.4)" CDS 1..632 /gene="SATL1" /coded_by="NM_001012980.2:1..1899" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS35343.2" /db_xref="GeneID:340562" /db_xref="HGNC:HGNC:27992" ORIGIN 1 mnqsgtnqss lsdsnqagin qpstnslgmn qmdmnqgsas lyemnqvdmk qpsmsqagmr 61 qsgtnlpdin qpdmkqpdtw qlgrsqpgml qqelsqlvls kagisqpdps qpgpsqsgps 121 qsrmrqigtn qsgmsqpvmq qldsqsggsq psmrqvgtsq lgtsqigmsq pgtwqtglsq 181 pvlrqpnmsp pgmwqpgvqq pgisqqvpsh pdmsqpgmsq qvpsqpgirq pdtsqscknq 241 tdmsqpdanq sslsdsnqtg iiqpspsllg mnqmdmnqws aslyemnqvd mkqpsmsqag 301 mrqsgtnlpd inqpgmkqpg twqlgrsqpg mwpqslselv lseasisqpg ppqrapsqsg 361 prqsstsqag tnqsgisqpv mwqldmrqsg gsqpsmrqvg tsqsgtsqig msqpgtwqtg 421 lsqpvprqpn ksppgmwqrg mwqpgmsqqv psqlgmrqpg tsqssknqtg mshpgrgqpg 481 iwepgpsqpg lsqqdlnqlv lsqpglsqpg rsqpsvsqmg mrqtsmdyfq irhaeagdcp 541 eilrlikela acenmldame ltaadllrdg fgdnplfycl iaevndqqkp sgkltvgfam 601 yyftydswtg kvlyledfyv tqayqdshhn sm // LOCUS NP_115270 818 aa linear PRI 20-JUN-2020 DEFINITION protocadherin gamma-B5 isoform 2 precursor [Homo sapiens]. ACCESSION NP_115270 VERSION NP_115270.1 DBSOURCE REFSEQ: accession NM_032099.1 KEYWORDS RefSeq. SOURCE Homo 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 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 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 AF152521.1. 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 :: AF152521.1, BC093877.1 [ECO:0000345] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..818 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q31.3" Protein 1..818 /product="protocadherin gamma-B5 isoform 2 precursor" /note="protocadherin gamma-B5" /calculated_mol_wt=86000 sig_peptide 1..30 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3182 mat_peptide 31..818 /product="protocadherin gamma-B5 isoform 2" /calculated_mol_wt=86000 Region 32..112 /region_name="Cadherin_2" /note="Cadherin-like; pfam08266" /db_xref="CDD:311943" 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..339 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(253..254,304,306,335,337..338) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 352..444 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(354..355,407,409,440,442..443) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Site 415 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9Y5G0.1)" Region 452..554 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(459..460,517,519,550,552..553) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Site 541 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9Y5G0.1)" Region 574..658 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Region 683..764 /region_name="Cadherin_C_2" /note="Cadherin cytoplasmic C-terminal; pfam16492" /db_xref="CDD:318652" Site 688..708 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y5G0.1)" CDS 1..818 /gene="PCDHGB5" /gene_synonym="PCDH-GAMMA-B5" /coded_by="NM_032099.1:1..2457" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS75340.1" /db_xref="GeneID:56101" /db_xref="HGNC:HGNC:8712" /db_xref="MIM:606302" ORIGIN 1 mgsgagelgr aerlpvlflf llslfcpalc eqiryripee mpkgsvvgnl atdlgfsvqe 61 lptrklrvss ekpyftvsae sgellvssrl dreeicgkkp acalefeava enplnfyhvn 121 veiedindht pkftqnsfel qisesaqpgt rfilevaeda diglnslqky klslnpsfsl 181 iikekqdgsk ypelalektl dreqqsyhrl vltaldgghp plsgttelri qvtdandnpp 241 vfnrdvyrvs lrenvppgtt vlqvsatdqd eginseitys fyrtgqifsl nsksgeittq 301 kkldfeetke ysmvvegrdg gglvaqctve iniqdendns pevtfhslle milenavpgt 361 lialikihdq dsgengevnc qlqgevpfki isssknsykl vtdgtldreq tpeynvtita 421 tdrgkpplss sisvilhird vndnapvfhq asylvsvpen nppgasiaqv casdldlgln 481 gqvsysimas dleplalasy vsmsaqsgvv faqrafdyeq lrtfeltlqa rdqgspalsa 541 nvslrvlvgd rndnaprvly palgpdgsal fdmvpraaep gylvtkvvav dadsghnawl 601 syhvlqasep glfslglrtg evrtaralgd rdaarqrllv avrdggqppl satatlhlvf 661 adslqevlpd itdrpvpsdp qaelqfylvv alalisvlfl lavilavalr lrrssspaaw 721 scfqpglcvk sgpvvppnys qgtlpysynl cvahtgktef nflkcseqls sgqdilcgds 781 sgalfplcns sestshpelv sfiyvysfsl ptqfsvft // LOCUS NP_001186867 366 aa linear PRI 20-JUN-2020 DEFINITION endogenous Bornavirus-like nucleoprotein 1 [Homo sapiens]. ACCESSION NP_001186867 XP_001716774 XP_291767 XP_944572 VERSION NP_001186867.1 DBSOURCE REFSEQ: accession NM_001199938.1 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 366) AUTHORS Myers KN, Barone G, Ganesh A, Staples CJ, Howard AE, Beveridge RD, Maslen S, Skehel JM and Collis SJ. TITLE The bornavirus-derived human protein EBLN1 promotes efficient cell cycle transit, microtubule organisation and genome stability JOURNAL Sci Rep 6, 35548 (2016) PUBMED 27739501 REMARK GeneRIF: human EBLN1 possesses important cellular functions within human cells. Publication Status: Online-Only REFERENCE 2 (residues 1 to 366) AUTHORS Sung YJ, Perusse L, Sarzynski MA, Fornage M, Sidney S, Sternfeld B, Rice T, Terry JG, Jacobs DR Jr, Katzmarzyk P, Curran JE, Jeffrey Carr J, Blangero J, Ghosh S, Despres JP, Rankinen T, Rao DC and Bouchard C. TITLE Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat JOURNAL Int J Obes (Lond) 40 (4), 662-674 (2016) PUBMED 26480920 REMARK GeneRIF: Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women. REFERENCE 3 (residues 1 to 366) AUTHORS He P, Sun L, Zhu D, Zhang H, Zhang L, Guo Y, Liu S, Zhou J, Xu X and Xie P. TITLE Knock-Down of Endogenous Bornavirus-Like Nucleoprotein 1 Inhibits Cell Growth and Induces Apoptosis in Human Oligodendroglia Cells JOURNAL Int J Mol Sci 17 (4), 435 (2016) PUBMED 27023521 REMARK GeneRIF: Numerous genes were dysregulated by Endogenous bornavirus-like nucleoprotein 1 silencing, some of which may be key target genes of Rho family GTPase 3, oncostatin M receptor, and cAMP responsive element binding protein 3-like 2 protein. Publication Status: Online-Only REFERENCE 4 (residues 1 to 366) AUTHORS Horie M, Kobayashi Y, Suzuki Y and Tomonaga K. TITLE Comprehensive analysis of endogenous bornavirus-like elements in eukaryote genomes JOURNAL Philos. Trans. R. Soc. Lond., B, Biol. Sci. 368 (1626), 20120499 (2013) PUBMED 23938751 REMARK Review article Publication Status: Online-Only REFERENCE 5 (residues 1 to 366) AUTHORS Kobayashi Y, Horie M, Tomonaga K and Suzuki Y. TITLE No evidence for natural selection on endogenous borna-like nucleoprotein elements after the divergence of Old World and New World monkeys JOURNAL PLoS ONE 6 (9), e24403 (2011) PUBMED 21912690 REFERENCE 6 (residues 1 to 366) AUTHORS Belyi VA, Levine AJ and Skalka AM. TITLE Unexpected inheritance: multiple integrations of ancient bornavirus and ebolavirus/marburgvirus sequences in vertebrate genomes JOURNAL PLoS Pathog. 6 (7), e1001030 (2010) PUBMED 20686665 REMARK Publication Status: Online-Only REFERENCE 7 (residues 1 to 366) AUTHORS Horie M, Honda T, Suzuki Y, Kobayashi Y, Daito T, Oshida T, Ikuta K, Jern P, Gojobori T, Coffin JM and Tomonaga K. TITLE Endogenous non-retroviral RNA virus elements in mammalian genomes JOURNAL Nature 463 (7277), 84-87 (2010) PUBMED 20054395 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL157831.29. On or before Jan 21, 2011 this sequence version replaced XP_291767.3, XP_944572.1, XP_001716774.1. 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..366 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10p12.31" Protein 1..366 /product="endogenous Bornavirus-like nucleoprotein 1" /note="endogenous Borna-like N element-containing protein 1; endogenous Borna-like N element-1" /calculated_mol_wt=40182 Region 31..348 /region_name="BDV_P40" /note="Borna disease virus P40 protein; pfam06407" /db_xref="CDD:283948" CDS 1..366 /gene="EBLN1" /gene_synonym="EBLN-1" /coded_by="NM_001199938.1:1..1101" /db_xref="CCDS:CCDS60498.1" /db_xref="GeneID:340900" /db_xref="HGNC:HGNC:39430" /db_xref="MIM:613249" ORIGIN 1 msrprnnpqt sspqdstkdg ssfhyfqgrf elsgksrqyp adalepqpgi gdvkviekat 61 ksmldpaqrs hfylvtpslv flcfifdglh kallsvgvsk rsnivignen ketgtlyask 121 fedvlptfta lemssilrhc cdligiaags sdpictnslq vqrqfkammi sigrplhses 181 adllisynag paidwinsrp wvgglmftfl fgefespace lldqvkvvas kaqmmtyytv 241 rmfldqcvdg stalpavvle ipvfeqkkpl akkvlgdffe fggvlrhpvi gvlspqmfpn 301 lataanywak rrnstfsgfe aldiipgsti tfpvlqmasa qkisrgsdmd pytlnilrgy 361 gisgfe // LOCUS NP_001129978 552 aa linear PRI 20-JUN-2020 DEFINITION steroid transmembrane transporter SLC22A24 isoform 1 [Homo sapiens]. ACCESSION NP_001129978 XP_001720472 VERSION NP_001129978.2 DBSOURCE REFSEQ: accession NM_001136506.2 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 552) AUTHORS Yee SW, Stecula A, Chien HC, Zou L, Feofanova EV, van Borselen M, Cheung KWK, Yousri NA, Suhre K, Kinchen JM, Boerwinkle E, Irannejad R, Yu B and Giacomini KM. TITLE Unraveling the functional role of the orphan solute carrier, SLC22A24 in the transport of steroid conjugates through metabolomic and genome-wide association studies JOURNAL PLoS Genet. 15 (9), e1008208 (2019) PUBMED 31553721 REMARK GeneRIF: Functional genomic studies reveal a previously uncharacterized protein involved in steroid homeostasis, opening up new possibilities for SLC22A24 as a pharmacological target for regulating steroid levels. Publication Status: Online-Only REFERENCE 2 (residues 1 to 552) AUTHORS Agopian AJ, Mitchell LE, Glessner J, Bhalla AD, Sewda A, Hakonarson H and Goldmuntz E. TITLE Genome-wide association study of maternal and inherited loci for conotruncal heart defects JOURNAL PLoS ONE 9 (5), e96057 (2014) PUBMED 24800985 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 552) 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 AP001858.4 and KF459672.1. On Jan 13, 2011 this sequence version replaced NP_001129978.1. Summary: SLC22A24 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 (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, including cow AAI12500.1. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA2159080, SAMEA2162328 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..552 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11q12.3" Protein 1..552 /product="steroid transmembrane transporter SLC22A24 isoform 1" /note="steroid transmembrane transporter SLC22A24" /calculated_mol_wt=61570 Region 11..526 /region_name="2A0119" /note="cation transport protein; TIGR00898" /db_xref="CDD:273328" Site 16..36 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N4F4.2)" Region 125..516 /region_name="MFS" /note="The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of...; cd06174" /db_xref="CDD:119392" Site order(125..126,128..129,149,152..153,156,160..161, 163..164,210..211,214..215,218..219,222,234..235,238..239, 245,361,364..365,368..369,372,378,382,386,389,393,439, 442..443,446,450..451,454,468..469,472..473,476..477,480) /site_type="other" /note="putative substrate translocation pore" /db_xref="CDD:119392" Site 146..166 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N4F4.2)" Site 188..208 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N4F4.2)" Site 234..254 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N4F4.2)" Site 260..280 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N4F4.2)" Site 350..370 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N4F4.2)" Site 380..400 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N4F4.2)" Site 407..427 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N4F4.2)" Site 435..455 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N4F4.2)" Site 496..516 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N4F4.2)" CDS 1..552 /gene="SLC22A24" /gene_synonym="NET46" /coded_by="NM_001136506.2:443..2101" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS73308.1" /db_xref="GeneID:283238" /db_xref="HGNC:HGNC:28542" /db_xref="MIM:611698" ORIGIN 1 mgfdvlldqv ggmgrfqicl iaffcitnil lfpnivlenf taftpshrcw vplldndtvs 61 dndtgtlskd dllrisipld snlrpqkcqr fihpqwqllh lngtfpntne pdtepcvdgw 121 vydrssflst ivtewdlvce sqslksmvqs lfmagsllgg liyghlsdrv grkiicklcf 181 lqlaisntca afaptflvyc ilrflagfst mtilgntfil slewtlprsr smtimvllcs 241 ysvgqmllgg lafaiqdwhi lqltvstpii vlflsswkmv esarwliinn qldeglkelr 301 rvahingkkn teetlttelv rstmkkelda vriktsifsl frapklrmrv fglcfvrfai 361 tvpfygliln lqhlgsnvsl fqilcgavtf tarcvslltl nhmgrrisqi lftfpvglfi 421 lvntflpqem qilrvvlatl gigsvsaasn sasvhhnelv ptilrstvag inavsgrtga 481 alapllmtlm aysphlpwis ygvfpilavp villlpetrd lplpntiqdv endrkdsrni 541 kqedtcmkvt qf // LOCUS NP_036278 170 aa linear PRI 20-JUN-2020 DEFINITION double homeobox protein 1 [Homo sapiens]. ACCESSION NP_036278 VERSION NP_036278.1 DBSOURCE REFSEQ: accession NM_012146.1 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 170) AUTHORS Ansseau E, Eidahl JO, Lancelot C, Tassin A, Matteotti C, Yip C, Liu J, Leroy B, Hubeau C, Gerbaux C, Cloet S, Wauters A, Zorbo S, Meyer P, Pirson I, Laoudj-Chenivesse D, Wattiez R, Harper SQ, Belayew A and Coppee F. TITLE Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation JOURNAL PLoS ONE 11 (1), e0146893 (2016) PUBMED 26816005 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 170) AUTHORS Ostlund C, Garcia-Carrasquillo RM, Belayew A and Worman HJ. TITLE Intracellular trafficking and dynamics of double homeodomain proteins JOURNAL Biochemistry 44 (7), 2378-2384 (2005) PUBMED 15709750 REMARK GeneRIF: Report shows that full-length DUX1 is actively transported into the nuclei of transfected C2C12 myoblasts, and that DUX1 homeodomains contain the signals required for this localization. REFERENCE 3 (residues 1 to 170) AUTHORS Beckers M, Gabriels J, van der Maarel S, De Vriese A, Frants RR, Collen D and Belayew A. TITLE Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements JOURNAL Gene 264 (1), 51-57 (2001) PUBMED 11245978 REFERENCE 4 (residues 1 to 170) AUTHORS Ding H, Beckers MC, Plaisance S, Marynen P, Collen D and Belayew A. TITLE Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3 kb dispersed repeated elements JOURNAL Hum. Mol. Genet. 7 (11), 1681-1694 (1998) PUBMED 9736770 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AJ001481.1. Summary: The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX1, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM, Mar 2008]. ##Evidence-Data-START## Transcript is intronless :: AJ001481.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..170 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10" Protein 1..170 /product="double homeobox protein 1" /calculated_mol_wt=19216 Region 27..72 /region_name="Homeobox" /note="Homeobox domain; pfam00046" /db_xref="CDD:278475" Site order(95..99,101,118,124,137,139..140,143..144,146..148, 150..151) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Region 97..150 /region_name="Homeobox" /note="Homeobox domain; pfam00046" /db_xref="CDD:278475" Site order(97,100,140,143..144,147) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" CDS 1..170 /gene="DUX1" /coded_by="NM_012146.1:113..625" /db_xref="GeneID:26584" /db_xref="HGNC:HGNC:3079" /db_xref="MIM:611441" ORIGIN 1 malltalddt lpeeaqgpgr rmillstpsq sdalracfer nlypgiatke elaqgidipe 61 prvqiwfqne rscqlrqhrr qsrpwpgrrd pqkgrrkrta itgsqtalll rafekdrfpg 121 iaareelare tglpesriqi wfqnrrarhr gqsgraptqa sircnaapig // LOCUS NP_001004474 331 aa linear PRI 20-JUN-2020 DEFINITION olfactory receptor 10S1 [Homo sapiens]. ACCESSION NP_001004474 XP_166780 VERSION NP_001004474.1 DBSOURCE REFSEQ: accession NM_001004474.1 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 331) 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 331) 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 BK004509.1. On Sep 19, 2004 this sequence version replaced XP_166780.2. 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## 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="11" /map="11q24.1" Protein 1..331 /product="olfactory receptor 10S1" /note="olfactory receptor OR11-279" /calculated_mol_wt=36370 Site 18 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGN2.2)" Site 39..59 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN2.2)" Region 47..313 /region_name="7tm_GPCRs" /note="seven-transmembrane G protein-coupled receptor superfamily; cl28897" /db_xref="CDD:333717" Site 68..88 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN2.2)" Region 73..95 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320095" Region 112..134 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320095" Site 114..134 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN2.2)" Site 154..174 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN2.2)" Region 157..173 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320095" Region 210..233 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320095" Site 212..231 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN2.2)" Region 249..274 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320095" Site 252..272 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN2.2)" Region 281..306 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320095" Site 284..304 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN2.2)" CDS 1..331 /gene="OR10S1" /gene_synonym="OR11-279" /coded_by="NM_001004474.1:1..996" /db_xref="CCDS:CCDS31701.1" /db_xref="GeneID:219873" /db_xref="HGNC:HGNC:14807" ORIGIN 1 mtsrsvcekm tmttenpnqt vvshfflegl rytakhsslf fllflliysi tvagnllill 61 tvgsdshlsl pmyhflghls fldaclstvt vpkvmagllt ldgkvisfeg cavqlycfhf 121 lastecflyt vmaydrylai cqplhypvam nrrmcaemag itwaigatha aihtsltfrl 181 lycgpchiay ffcdippvlk lactdttine lvmlasigiv aagclilivi syifivaavl 241 rirtaqgrqr afspctaqlt gvllyyvppv ciylqprsse agagapavfy tivtpmlnpf 301 iytlrnkevk halqrllcss frestagspp p // LOCUS NP_001004486 308 aa linear PRI 20-JUN-2020 DEFINITION olfactory receptor 13H1 [Homo sapiens]. ACCESSION NP_001004486 XP_293366 VERSION NP_001004486.1 DBSOURCE REFSEQ: accession NM_001004486.1 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 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 2 (residues 1 to 308) 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 308) 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 4 (residues 1 to 308) 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 5 (residues 1 to 308) AUTHORS Vanderhaeghen P, Schurmans S, Vassart G and Parmentier M. TITLE Molecular cloning and chromosomal mapping of olfactory receptor genes expressed in the male germ line: evidence for their wide distribution in the human genome JOURNAL Biochem. Biophys. Res. Commun. 237 (2), 283-287 (1997) PUBMED 9268701 REFERENCE 6 (residues 1 to 308) 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 7 (residues 1 to 308) 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 AB065938.1. On Sep 18, 2004 this sequence version replaced XP_293366.3. 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..308 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq26.2" Protein 1..308 /product="olfactory receptor 13H1" /note="olfactory receptor ORX1; olfactory receptor ORX-1" /calculated_mol_wt=34439 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NG92.1)" Site 26..46 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG92.1)" Region 34..307 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 41..289 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 55..75 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG92.1)" Site 100..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG92.1)" Site 140..159 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG92.1)" Site 197..216 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG92.1)" Site 237..257 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG92.1)" Site 271..291 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG92.1)" CDS 1..308 /gene="OR13H1" /gene_synonym="ORX1" /coded_by="NM_001004486.1:1..927" /db_xref="CCDS:CCDS35396.1" /db_xref="GeneID:347468" /db_xref="HGNC:HGNC:14755" ORIGIN 1 mamdnvtavf qflligisny pqwrdtfftl vliiylstll gngfmiflih fdpnlhtpiy 61 fflsnlsfld lcygtasmpq alvhcfsthp ylsyprclaq tsvslalata eclllaamay 121 drvvaisnpl rysvvmngpv cvclvatswg tslvltamli lslrlhfcga nvinhfacei 181 lslikltcsd tslnefmili tsiftlllpf gfvllsyiri amaiirirsl qgrlkafttc 241 gshltvvtif ygsaismymk tqsksypdqd kfisvfygal tpmlnpliys lrkkdvkrai 301 rkvmlkrt // LOCUS NP_001137536 108 aa linear PRI 20-JUN-2020 DEFINITION uncharacterized protein LOC100129239 [Homo sapiens]. ACCESSION NP_001137536 XP_001720820 XP_001721697 VERSION NP_001137536.1 DBSOURCE REFSEQ: accession NM_001144064.2 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 AL109836.27. On or before Jan 23, 2009 this sequence version replaced XP_001721697.1, XP_001720820.1. Sequence Note: This RefSeq record was created from genomic sequence 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..108 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq27.3" Protein 1..108 /product="uncharacterized protein LOC100129239" /note="Uncharacterized protein CXorf51B" /calculated_mol_wt=11897 CDS 1..108 /gene="CXorf51A" /gene_synonym="CXorf51; CXorf51B" /coded_by="NM_001144064.2:9..335" /db_xref="CCDS:CCDS83498.1" /db_xref="GeneID:100129239" /db_xref="HGNC:HGNC:30533" ORIGIN 1 makvtsepqk pnedvdeqtp stsstkgrkk gktprqrrsr sgvkglkttr kakrplrgss 61 sqkagetntp agkpkkargp ilrgryhrlk ekmkkeeadk eqsetsvl // LOCUS NP_001159609 1134 aa linear PRI 20-JUN-2020 DEFINITION putative spermatogenesis-associated protein 31C2 isoform 2 [Homo sapiens]. ACCESSION NP_001159609 VERSION NP_001159609.1 DBSOURCE REFSEQ: accession NM_001166137.1 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 1134) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK302448.1, DB061043.1, AL353726.22 and AL080179.1. ##Evidence-Data-START## Transcript exon combination :: AK302448.1, DC400365.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149178, SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1134 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q22.1" Protein 1..1134 /product="putative spermatogenesis-associated protein 31C2 isoform 2" /note="family with sequence similarity 75, member C2; spermatogenesis-associated protein 31C2; putative spermatogenesis-associated protein 31C2" /calculated_mol_wt=124299 Site 23..43 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (B4DYI2.2)" Region 82..161 /region_name="DUF4599" /note="Domain of unknown function (DUF4599); pfam15371" /db_xref="CDD:292015" Region 311..600 /region_name="FAM75" /note="FAM75 family; pfam14650" /db_xref="CDD:291323" CDS 1..1134 /gene="SPATA31C2" /gene_synonym="FAM75C2" /coded_by="NM_001166137.1:30..3434" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:645961" /db_xref="HGNC:HGNC:24508" ORIGIN 1 menlpfplkl lsasslntps stpwvldifl tlvfalgfff lllpyfsylr cdnppspspk 61 krkrhlvsqr pagrrgrprg rmknhslrac recprgleet wdllsqlqsl lgphlekgdf 121 gqlsgpdppg evgkrtpdga srsshepted aapivsplas pdprtkhpqd lastpppgpm 181 ttsvsslsas qppepsllle hpspeppalf phpprtpdpl acsppppkgf tppplrdstl 241 ltpshcdsva lpldtvpqsl spredlaasv pgisglggsn sqvsalswsq ettktwcvfn 301 ssvqqdhlsr qrdttmspll fqaqplshle pesqpfisst pqfwptpmaq aeaqahlqss 361 fpvlspafls pmkntgvacp asqnkvqals lpetqhperp llkkqleggl alpsrvqksq 421 dvfsvstpnl pqerltsilp enfpvspelw rqleqhmgqr griqesldlm qlqdelpgts 481 qakgkprpwq sststgessk eaqtvkfqle rdpcphlgqi lgetpqnlsr gmesfpgkvl 541 gatseesern lrkplrsdsg sdllrrtern hienilkahm srklgqtneg lipvsvrrsw 601 lavnqafpvs nthvktsnla apksrkacvn taqvlsflep ctqqvlgahi vrfwakhrwg 661 lplrvlkpiq cfqlekvssl sliqlagpss dtcesgagsk vevatflgep pmaslrkqvl 721 tkpsvhmper lqasspackq fqraprgips sndhgslkap tagqegrwps kpltysltgs 781 tqqsrslgaq ssragetrea vpqptvplgt cmranlqats edvrgfkapg askssllprm 841 svsqdprklc lmeeavsefe pgkatksetq pqvsatvvll pdgqasvvph asenlasqvp 901 qghlqsmptg nmqasqelcd lmsarrsnmg hkeprnpncq gscksqspmf ppthkrensr 961 kpnlekheem fqglrtpqlt pgrktedtrq negvqllpsk kqppsishfg enikqffqti 1021 fskkerkpap vtaesqktvk nrscvygssa eaerlmtavg qileenmslc harhaskvnq 1081 qrqqfqapvc gfpcnhrhpf ysehsrmlsy aassqqatlk nqsrpnrdrq irdq // LOCUS NP_001139654 517 aa linear PRI 21-JUN-2020 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_001146182.1 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 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: The RefSeq transcript and protein were derived from 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## 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 68..112 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" 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:279797" Region 128..172 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 194..237 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 197..366 /region_name="Keratin_B2" /note="Keratin, high sulfur B2 protein; pfam01500" /db_xref="CDD:279797" Region 224..267 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 278..322 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 303..347 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" CDS 1..517 /gene="KRTAP16-1" /gene_synonym="KAP16.1" /coded_by="NM_001146182.1:1..1554" /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_114088 818 aa linear PRI 21-JUN-2020 DEFINITION protocadherin alpha-C1 isoform 2 precursor [Homo sapiens]. ACCESSION NP_114088 VERSION NP_114088.2 DBSOURCE REFSEQ: accession NM_031882.3 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 818) 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 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 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 7 (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 AA601497.1, HY126945.1, BC136785.1 and AC010223.6. On Jul 13, 2001 this sequence version replaced NP_114088.1. 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), compared to isoform 1. This short variant is represented based on data in PMID:10380929. FEATURES Location/Qualifiers source 1..818 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q31.3" Protein 1..818 /product="protocadherin alpha-C1 isoform 2 precursor" /note="protocadherin alpha-C1" /calculated_mol_wt=86596 sig_peptide 1..18 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H158.2)" /calculated_mol_wt=1739 mat_peptide 20..818 /product="protocadherin alpha-C1 isoform 2" /calculated_mol_wt=86525 Region 21..103 /region_name="E_set" /note="Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus; cl09101" /db_xref="CDD:298831" Site order(28..29,82,84,116,118..119) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Site 38 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H158.2)" Region 130..229 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(135..136,192,194,225,227..228) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 237..336 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(244..245,300,302,332,334..335) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Site 248 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H158.2)" Site 274 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H158.2)" Region 349..441 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(351..352,404,406,437,439..440) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 449..551 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(456..457,514,516,547,549..550) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Site 562 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H158.2)" Region 570..652 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site 684..704 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H158.2)" CDS 1..818 /gene="PCDHAC1" /gene_synonym="PCDH-ALPHA-C1" /coded_by="NM_031882.3:177..2633" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="GeneID:56135" /db_xref="HGNC:HGNC:8676" /db_xref="MIM:606320" ORIGIN 1 mvgcgvavlc lwvscgaaag qleysvpeet ergvavgnls adlrlpaaam ssrnfrflss 61 hrelyfgvdl psgnlvvrep adreqlcrak aacvltydlv ledplelhki rihvldtndn 121 splfpagdvq lhipefltpg arftlpnaqd ddegsngils yslspsqhfr ldmgsrvdgs 181 eypelvleka ldreqrathl lvltardggl parsgdaqvt iivvdtndna pvfersvyrt 241 kvpetapngt vlfrvqaldp degsngevqy slsnstqael rhrfhvhpks gevqvaaslg 301 ppetlleayi eardegvfgl astakllvev tdvndhapel dfltlsnpvp edaapgtvia 361 lfsvkdedld sngrvicgms sagpfqltas fdnyysllid gpldreqise yqvlitasds 421 gspplstrrt itvsvadvnd ntpnfpqpqq elfvaenngp gaslgrvfaq dpdlgknglv 481 syelldvise gpsassllav esssgaitak tsfdfeqlrg fhfqvegrdg gipprsatvt 541 inlfvvdrnd nypvilfplp rngsvpveiv prsartghlv tkvvaedads gsnawlsyhi 601 srasdsslfr isanigelrt arlvlptdav kqrvvvvvrd hgdpplsssv tlgvllsnsv 661 pqllpdfedv wepggqlsaq nlylvialac isflflgcll ffvctklhqs pgccaqsccr 721 stedlrygsk mvsnpcmtsa tidvttverl sqtylyrasl glgsdnnsll lrgeynaadl 781 rnlatgvgln lpisciqirn rkgdhanvna mvskfygi // LOCUS NP_001352300 622 aa linear PRI 21-JUN-2020 DEFINITION golgin subfamily A member 6-like protein 7 [Homo sapiens]. ACCESSION NP_001352300 VERSION NP_001352300.1 DBSOURCE REFSEQ: accession NM_001365371.1 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 PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI 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## RefSeq Select criteria :: based on single protein-coding transcript ##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 <114..>544 /region_name="Neuromodulin_N" /note="Gap junction protein N-terminal region; cl26511" /db_xref="CDD:331332" CDS 1..622 /gene="GOLGA6L7" /gene_synonym="GOLGA6L7P" /coded_by="NM_001365371.1:137..2005" /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_001287813 204 aa linear PRI 21-JUN-2020 DEFINITION cysteine-rich hydrophobic domain-containing protein 1 isoform 2 [Homo sapiens]. ACCESSION NP_001287813 XP_005262333 VERSION NP_001287813.1 DBSOURCE REFSEQ: accession NM_001300884.1 KEYWORDS RefSeq. SOURCE Homo 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 Cools J, Mentens N and Marynen P. TITLE A new family of small, palmitoylated, membrane-associated proteins, characterized by the presence of a cysteine-rich hydrophobic motif JOURNAL FEBS Lett. 492 (3), 204-209 (2001) PUBMED 11257495 REFERENCE 2 (residues 1 to 204) AUTHORS Simmler MC, Heard E, Rougeulle C, Cruaud C, Weissenbach J and Avner P. TITLE Localization and expression analysis of a novel conserved brain expressed transcript, Brx/BRX, lying within the Xic/XIC candidate region JOURNAL Mamm. Genome 8 (10), 760-766 (1997) PUBMED 9321471 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL358796.43, BC127727.1 and AL356513.15. On Jul 16, 2014 this sequence version replaced XP_005262333.1. Summary: This gene encodes a cysteine-rich hydrophobic (CHIC) domain-containing protein, and is one of the few protein-coding genes found near the X-inactivation center. Studies in mouse indicate that the mouse ortholog of this gene is subject to X-inactivation in mouse. Experiments with other CHIC domain-containing family members show that the cysteine residues are palmitoylated post-translationally, resulting in membrane association. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]. Transcript Variant: This variant (2) lacks an exon in the 3' coding region comapred 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 :: CR936642.1, SRR1660803.172667.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..204 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq13.2" Protein 1..204 /product="cysteine-rich hydrophobic domain-containing protein 1 isoform 2" /note="brain X-linked protein; cysteine-rich hydrophobic domain-containing protein 1" /calculated_mol_wt=23020 Region 105..>137 /region_name="Erf4" /note="Golgin subfamily A member 7/ERF4 family; pfam10256" /db_xref="CDD:313482" CDS 1..204 /gene="CHIC1" /gene_synonym="BRX" /coded_by="NM_001300884.1:138..752" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS75993.1" /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 psvltgkvap 121 eefktsigrv naclkkalpv nvkwllcgcl cccctlgcsl wpviclnkrt rrsiqkliew 181 ennrlyhkvi lieflpkypi frpd // LOCUS NP_001308200 189 aa linear PRI 21-JUN-2020 DEFINITION cancer/testis antigen family 45 member A9 [Homo sapiens]. ACCESSION NP_001308200 XP_006724860 VERSION NP_001308200.1 DBSOURCE REFSEQ: accession NM_001321271.1 KEYWORDS RefSeq. SOURCE Homo 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC240441.2. On Mar 19, 2016 this sequence version replaced XP_006724860.1. 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 SAMEA2151119 [ECO:0000348] ##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 A9" /note="cancer/testis antigen 45A9; Cancer/testis antigen family 45 member A8; Cancer/testis antigen 45A8; Cancer/testis antigen family 45 member A2; Cancer/testis antigen 45-2; Cancer/testis antigen 45A2" /calculated_mol_wt=21232 Region 122..183 /region_name="INT_SG_DDX_CT_C" /note="INTS6/SAGE1/DDX26B/CT45 C-terminus; pfam15300" /db_xref="CDD:291946" CDS 1..189 /gene="CT45A9" /gene_synonym="CT45-2; CT45A2; CT45A8" /coded_by="NM_001321271.1:91..660" /db_xref="CCDS:CCDS76034.1" /db_xref="GeneID:102723680" /db_xref="HGNC:HGNC:51262" ORIGIN 1 mtdktekvav dpetvfkrpr ecdspsyqkr qrmallarkq gagdsliags amskekklmt 61 ghaippsqld sqiddftgfs kdrmmqkpgs napvggnvts sfsgddlecr etafspksqq 121 einadikrql vkelrcvgqk yekifemleg vqgptavrkr ffesiikeaa rcmrrdfvkh 181 lkkklkrmi // LOCUS NP_001291298 345 aa linear PRI 21-JUN-2020 DEFINITION ankyrin repeat domain-containing protein 60 [Homo sapiens]. ACCESSION NP_001291298 VERSION NP_001291298.1 DBSOURCE REFSEQ: accession NM_001304369.1 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 345) 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 345) 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) REFERENCE 3 (residues 1 to 345) 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 4 (residues 1 to 345) 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 AL354776.15 and AW629215.1. 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 :: single sample supports all introns SAMEA1968968, SAMEA2148093 [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..345 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20q13.32" Protein 1..345 /product="ankyrin repeat domain-containing protein 60" /calculated_mol_wt=37499 Region 103..163 /region_name="UBL" /note="Ubiquitin-like domain of UBL; cd01769" /db_xref="CDD:176364" Region 171..298 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 214..260 /region_name="Ank_5" /note="Ankyrin repeats (many copies); pfam13857" /db_xref="CDD:290568" Region 219..249 /region_name="ANK 1" /note="propagated from UniProtKB/Swiss-Prot (Q9BZ19.3)" Region 223..250 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Site order(225..226,229..231,233..234,238,241,250,252,254, 258..259,262..264,266..267,271,274,283,285,287,291..292, 295..297,299,304,309,318) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 239..293 /region_name="Ank_5" /note="Ankyrin repeats (many copies); pfam13857" /db_xref="CDD:290568" Region 252..283 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 252..281 /region_name="ANK 2" /note="propagated from UniProtKB/Swiss-Prot (Q9BZ19.3)" Region 285..318 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" CDS 1..345 /gene="ANKRD60" /gene_synonym="bA196N14.3; C20orf86" /coded_by="NM_001304369.1:1..1038" /db_xref="CCDS:CCDS77596.1" /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 ehgasclsrs plgrtplhva aamgrsdcii lllqhgasih drdakgetpi siahrlnhtl 301 serqmvllhr iaksgirdln dlvmknalqr vksgfrsekm tmtph // LOCUS NP_001310220 96 aa linear PRI 21-JUN-2020 DEFINITION E3 ubiquitin-protein ligase RNF180 isoform 3 [Homo sapiens]. ACCESSION NP_001310220 VERSION NP_001310220.1 DBSOURCE REFSEQ: accession NM_001323291.1 KEYWORDS RefSeq. SOURCE Homo 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 Deng J, Guo J, Guo X, Hou Y, Xie X, Sun C, Zhang R, Yu X and Liang H. TITLE Mediation of the malignant biological characteristics of gastric cancer cells by the methylated CpG islands in RNF180 DNA promoter JOURNAL Oncotarget 7 (28), 43461-43474 (2016) PUBMED 27223257 REMARK GeneRIF: The methylated status of the key CpG islands of RNF180 DNA promoter may be used to predict the variations of the malignant biological characteristics of gastric cancer cells. REFERENCE 2 (residues 1 to 96) AUTHORS Han F, Sun LP, Liu S, Xu Q, Liang QY, Zhang Z, Cao HC, Yu J, Fan DM, Nie YZ, Wu KC and Yuan Y. TITLE Promoter methylation of RNF180 is associated with H.pylori infection and serves as a marker for gastric cancer and atrophic gastritis JOURNAL Oncotarget 7 (17), 24800-24809 (2016) PUBMED 27050149 REMARK GeneRIF: relationships between RNF180 promoter methylation and gastric cancer or atrophic gastritis, and the effects of Helicobactor pylori (H.pylori) infection on RNF180 promoter methylation REFERENCE 3 (residues 1 to 96) AUTHORS Deng J, Liang H, Zhang R, Hou Y, Liu Y, Ying G, Pan Y and Hao X. TITLE Clinical and experimental role of ring finger protein 180 on lymph node metastasis and survival in gastric cancer JOURNAL Br J Surg 103 (4), 407-416 (2016) PUBMED 26805552 REMARK GeneRIF: RNF180 is capable of inhibiting lymph node metastasis of gastric cancer by suppressing the intracellular activation of malignant molecular signals. REFERENCE 4 (residues 1 to 96) AUTHORS Xie XM, Deng JY, Hou YC, Cui JL, Wu WP, Ying GG, Dong QP, Hao XS and Liang H. TITLE Evaluating the clinical feasibility: The direct bisulfite genomic sequencing for examination of methylated status of E3 ubiquitin ligase RNF180 DNA promoter to predict the survival of gastric cancer JOURNAL Cancer Biomark 15 (3), 259-265 (2015) PUBMED 25769451 REMARK GeneRIF: hypermethylated CpG site count of E3 ubiquitin ligase Ring finger protein 180 promoter for evaluating the prognosis of gastric cancer was reasonable by using the direct bisulfite sequencing. REFERENCE 5 (residues 1 to 96) AUTHORS Deng J, Liang H, Ying G, Zhang R, Wang B, Yu J, Fan D and Hao X. TITLE Methylation of CpG sites in RNF180 DNA promoter prediction poor survival of gastric cancer JOURNAL Oncotarget 5 (10), 3173-3183 (2014) PUBMED 24833402 REMARK GeneRIF: We found that only few methylated CpG sites of RNF180 promoter was appropriate to predict the survival of gastric cancer REFERENCE 6 (residues 1 to 96) AUTHORS Cheung KF, Lam CN, Wu K, Ng EK, Chong WW, Cheng AS, To KF, Fan D, Sung JJ and Yu J. TITLE Characterization of the gene structure, functional significance, and clinical application of RNF180, a novel gene in gastric cancer JOURNAL Cancer 118 (4), 947-959 (2012) PUBMED 21717426 REMARK GeneRIF: RNF180 is a novel potential tumor suppressor in gastric carcinogenesis. REFERENCE 7 (residues 1 to 96) AUTHORS Asad S, Nikamo P, Gyllenberg A, Bennet H, Hansson O, Wierup N, Carlsson A, Forsander G, Ivarsson SA, Larsson H, Lernmark A, Lindblad B, Ludvigsson J, Marcus C, Ronningen KS, Nerup J, Pociot F, Luthman H, Fex M and Kockum I. CONSRTM Diabetes Incidence in Sweden Study Group TITLE HTR1A a novel type 1 diabetes susceptibility gene on chromosome 5p13-q13 JOURNAL PLoS ONE 7 (5), e35439 (2012) PUBMED 22563461 REMARK GeneRIF: Data indicate that the ring finger protein 180 (RNF180) and HTR1A showed association to T1D in the Swedish and Danish families. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA183707.1, BC101279.1, AK090756.1 and AC092360.2. ##Evidence-Data-START## Transcript exon combination :: BC101279.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144120, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..96 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q12.3" Protein 1..96 /product="E3 ubiquitin-protein ligase RNF180 isoform 3" /EC_number="2.3.2.27" /note="E3 ubiquitin-protein ligase RNF180; RING-type E3 ubiquitin transferase RNF180" /calculated_mol_wt=11001 CDS 1..96 /gene="RNF180" /gene_synonym="RINES" /coded_by="NM_001323291.1:112..402" /note="isoform 3 is encoded by transcript variant 3" /db_xref="GeneID:285671" /db_xref="HGNC:HGNC:27752" /db_xref="MIM:616015" ORIGIN 1 mkrskelitk nhsqeetsil rcwkcrkcia ssgcfmeyle nqvikdkdds vdaqnichvw 61 hmnvealpew iscliqkgky sgvglldhmv siylli // LOCUS NP_001074306 190 aa linear PRI 21-JUN-2020 DEFINITION homeobox protein SEBOX [Homo sapiens]. ACCESSION NP_001074306 XP_945552 VERSION NP_001074306.3 DBSOURCE REFSEQ: accession NM_001080837.3 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 190) AUTHORS Kwan JS, Hsu YH, Cheung CL, Dupuis J, Saint-Pierre A, Eriksson J, Handelman SK, Aragaki A, Karasik D, Pramstaller PP, Kooperberg C, Lacroix AZ, Larson MG, Lau KS, Lorentzon M, Pichler I, Sham PC, Taliun D, Vandenput L, Kiel DP, Hicks AA, Jackson RD, Ohlsson C, Benjamin EJ and Kung AW. TITLE Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels JOURNAL Hum. Mol. Genet. 23 (24), 6684-6693 (2014) PUBMED 25080503 REFERENCE 2 (residues 1 to 190) AUTHORS Cinquanta M, Rovescalli AC, Kozak CA and Nirenberg M. TITLE Mouse Sebox homeobox gene expression in skin, brain, oocytes, and two-cell embryos JOURNAL Proc. Natl. Acad. Sci. U.S.A. 97 (16), 8904-8909 (2000) PUBMED 10922053 REMARK GeneRIF: This publication reported the human SEBOX gene sequence and predicted amino acid sequence, in addition to mouse and rat Sebox gene sequences. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from KF573650.1 and AC002094.1. On Apr 22, 2014 this sequence version replaced NP_001074306.2. Summary: Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[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/partial sample support SAMEA2148874, SAMEA2162895 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..190 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q11.2" Protein 1..190 /product="homeobox protein SEBOX" /note="homeobox OG-9; skin-, embryo-, brain- and oocyte-specific homeobox" /calculated_mol_wt=20267 Site order(20..24,26,43,49,62,64..65,68..69,71..73,75..76) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Region 22..73 /region_name="Homeobox" /note="Homeobox domain; pfam00046" /db_xref="CDD:365835" Site order(22,25,65,68..69,72) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" CDS 1..190 /gene="SEBOX" /gene_synonym="OG-9; OG9; OG9X" /coded_by="NM_001080837.3:1..573" /db_xref="CCDS:CCDS45634.2" /db_xref="GeneID:645832" /db_xref="HGNC:HGNC:32942" /db_xref="MIM:610975" ORIGIN 1 mpspvdassa dggsglgshr rkrttfskgq llelerafaa wpypnisthe hlawvtclpe 61 akvqvwfqkr wakiiknrks gilspgsecp qsscslpdtl qqpwdpqmpg qpppssgtpq 121 rtsvcrhssc papglsprqg wegakavapw gsagasevhp sleratpqts lgslsdliya 181 laivvnvdhs // LOCUS NP_001034486 210 aa linear PRI 21-JUN-2020 DEFINITION TBC1 domain family member 28 [Homo sapiens]. ACCESSION NP_001034486 XP_170842 XP_935439 VERSION NP_001034486.2 DBSOURCE REFSEQ: accession NM_001039397.2 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 210) 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 DB065322.1, AK097563.1 and AC026271.6. On Jul 5, 2007 this sequence version replaced NP_001034486.1. ##Evidence-Data-START## CDS exon combination :: AK097563.1, BC112012.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..210 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17p11.2" Protein 1..210 /product="TBC1 domain family member 28" /calculated_mol_wt=23941 Region 102..>182 /region_name="RabGAP-TBC" /note="Rab-GTPase-TBC domain; cl02495" /db_xref="CDD:295329" CDS 1..210 /gene="TBC1D28" /coded_by="NM_001039397.2:413..1045" /db_xref="CCDS:CCDS42273.1" /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 npvsipgqry swylcpysqa wvslggvats // LOCUS NP_001013660 402 aa linear PRI 21-JUN-2020 DEFINITION proline-rich protein 25 [Homo sapiens]. ACCESSION NP_001013660 XP_370924 VERSION NP_001013660.1 DBSOURCE REFSEQ: accession NM_001013638.1 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 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AE006465.1. On Mar 30, 2005 this sequence version replaced XP_370924.2. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology 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="16" /map="16p13.3" Protein 1..402 /product="proline-rich protein 25" /calculated_mol_wt=40867 CDS 1..402 /gene="PRR25" /gene_synonym="gs64" /coded_by="NM_001013638.1:1..1209" /db_xref="GeneID:388199" /db_xref="HGNC:HGNC:37230" ORIGIN 1 martdqkppc rggcwgqpgh pntggaaahp tyhpmghrpr tcillrgdqt tggqapsrei 61 slgpwaagth flaisttpwg rktpacisel ptssgtaqpl anavcevqtv pgpglrpqgt 121 pamrapshkg tpptpnpwgp eqpqnrhkhp kkgvtggpsp pppaasrygq tpgreprvqa 181 pglgpcgrpa sgrllslhle kgdgkgtrqr ipltdaavgg drtdipsaia agpartpdrh 241 glpipgstpt pmvgsgrlga pvgrsgggas arssrpscan vllradaslg tvlsvlwtgq 301 lsrgwallpp gdagrhlets visagvaagi wlvepgeaaq dpatrrtapp rrtaspeppa 361 pgaplpacpg ripgaarfgp rscplgspav lavttgwshr sv // LOCUS NP_001122107 1639 aa linear PRI 21-JUN-2020 DEFINITION RIMS-binding protein 3B [Homo sapiens]. ACCESSION NP_001122107 XP_036936 VERSION NP_001122107.1 DBSOURCE REFSEQ: accession NM_001128635.1 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 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 DB455171.1, AP000552.1 and BX112696.1. On Jun 22, 2008 this sequence version replaced XP_036936.3. 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 alignments. ##RefSeq-Attributes-START## 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 3B" /note="RIMS binding protein 3.2" /calculated_mol_wt=180821 Region <75..139 /region_name="GBP_C" /note="Guanylate-binding protein, C-terminal domain; cl20817" /db_xref="CDD:303769" Region 106..117 /region_name="coiled coil" /note="coiled coil [structural motif]" /db_xref="CDD:293879" 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 III domain; pfam00041" /db_xref="CDD:278470" Site order(1069..1070,1072..1073) /site_type="other" /note="Cytokine receptor motif" /db_xref="CDD:238020" Region 1456..1517 /region_name="SH3" /note="Src Homology 3 domain superfamily; cl17036" /db_xref="CDD:302595" 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="RIMBP3B" /gene_synonym="RIM-BP3.2; RIM-BP3.B; RIMBP3.2" /coded_by="NM_001128635.1:109..5028" /db_xref="CCDS:CCDS46668.1" /db_xref="GeneID:440804" /db_xref="HGNC:HGNC:33891" /db_xref="MIM:612700" 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 evlverhasp 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 ahledfqglt ipqgsslvlq 1561 gnskrlplwt pkimiaaldy dpgdgqmggq gkgrlalrag dvvmvygpmd dqgfyygelg 1621 ghrglvpahl ldhmslhgh // LOCUS NP_003958 337 aa linear PRI 21-JUN-2020 DEFINITION trace amine-associated receptor 5 [Homo sapiens]. ACCESSION NP_003958 VERSION NP_003958.2 DBSOURCE REFSEQ: accession NM_003967.2 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 337) AUTHORS Dinter J, Muhlhaus J, Wienchol CL, Yi CX, Nurnberg D, Morin S, Gruters A, Kohrle J, Schoneberg T, Tschop M, Krude H, Kleinau G and Biebermann H. TITLE Inverse agonistic action of 3-iodothyronamine at the human trace amine-associated receptor 5 JOURNAL PLoS ONE 10 (2), e0117774 (2015) PUBMED 25706283 REMARK GeneRIF: The murine and human TAAR5 (hTAAR5) display significant basal activity in the Gq/11 pathway. Publication Status: Online-Only REFERENCE 2 (residues 1 to 337) AUTHORS Wallrabenstein I, Kuklan J, Weber L, Zborala S, Werner M, Altmuller J, Becker C, Schmidt A, Hatt H, Hummel T and Gisselmann G. TITLE Human trace amine-associated receptor TAAR5 can be activated by trimethylamine JOURNAL PLoS ONE 8 (2), e54950 (2013) PUBMED 23393561 REMARK GeneRIF: Human trace amine-associated receptor TAAR5 can be activated by trimethylamine. REFERENCE 3 (residues 1 to 337) AUTHORS Staubert C, Boselt I, Bohnekamp J, Rompler H, Enard W and Schoneberg T. TITLE Structural and functional evolution of the trace amine-associated receptors TAAR3, TAAR4 and TAAR5 in primates JOURNAL PLoS ONE 5 (6), e11133 (2010) PUBMED 20559446 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 337) 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 5 (residues 1 to 337) AUTHORS Liberles SD and Buck LB. TITLE A second class of chemosensory receptors in the olfactory epithelium JOURNAL Nature 442 (7103), 645-650 (2006) PUBMED 16878137 REMARK GeneRIF: Previous studies reported TAAR expression in brain. This paper found TAAR expression only in olfactory epithelial cells and that each TAAR detects a unique set of amine ligands. TAARs seem to function as a family of chemosensory receptors for amines. REFERENCE 6 (residues 1 to 337) AUTHORS Lindemann L, Ebeling M, Kratochwil NA, Bunzow JR, Grandy DK and Hoener MC. TITLE Trace amine-associated receptors form structurally and functionally distinct subfamilies of novel G protein-coupled receptors JOURNAL Genomics 85 (3), 372-385 (2005) PUBMED 15718104 REFERENCE 7 (residues 1 to 337) 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 337) AUTHORS Zeng Z, Fan P, Rand E, Kyaw H, Su K, Madike V, Carter KC and Li Y. TITLE Cloning of a putative human neurotransmitter receptor expressed in skeletal muscle and brain JOURNAL Biochem. Biophys. Res. Commun. 242 (3), 575-578 (1998) PUBMED 9464258 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC112211.1 and BC112209.1. On Feb 14, 2009 this sequence version replaced NP_003958.1. ##Evidence-Data-START## Transcript is intronless :: BC112211.1, BC112209.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## 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="6" /map="6q23.2" Protein 1..337 /product="trace amine-associated receptor 5" /note="putative neurotransmitter receptor; taR-5; trace amine receptor 5; hTaar5" /calculated_mol_wt=38111 Site 21 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O14804.2)" Site 35..55 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O14804.2)" Region 46..323 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 51..305 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 71..91 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O14804.2)" Site 110..130 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O14804.2)" Site 155..175 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O14804.2)" Site 205..225 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O14804.2)" Site 254..274 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O14804.2)" Site 285..307 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O14804.2)" CDS 1..337 /gene="TAAR5" /gene_synonym="PNR" /coded_by="NM_003967.2:53..1066" /db_xref="CCDS:CCDS5156.1" /db_xref="GeneID:9038" /db_xref="HGNC:HGNC:30236" /db_xref="MIM:607405" ORIGIN 1 mravfiqgae ehpaafcyqv ngscprtvht lgiqlviyla caagmliivl gnvfvafavs 61 yfkalhtptn flllslalad mflgllvlpl stirsvescw ffgdflcrlh tyldtlfclt 121 sifhlcfisi drhcaicdpl lypskftvrv alryilagwg vpaaytslfl ytdvvetrls 181 qwleempcvg scqlllnkfw gwlnfplffv pclimislyv kifvvatrqa qqittlsksl 241 agaakherka aktlgiavgi yllcwlpfti dtmvdsllhf itpplvfdif iwfayfnsac 301 npiiyvfsyq wfrkalkltl sqkvfspqtr tvdlyqe // LOCUS NP_569058 302 aa linear PRI 21-JUN-2020 DEFINITION ankyrin repeat and SOCS box protein 14 isoform 2 precursor [Homo sapiens]. ACCESSION NP_569058 VERSION NP_569058.1 DBSOURCE REFSEQ: accession NM_130387.5 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 302) 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 302) 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 AF403032.1, AL832472.1 and BE004392.1. 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. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2008]. 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 and distinct N-terminus, compared to isoform 1. ##Evidence-Data-START## CDS exon combination :: AF403032.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA2154361, SAMN03465406 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..302 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3p14.3" Protein 1..302 /product="ankyrin repeat and SOCS box protein 14 isoform 2 precursor" /note="ankyrin repeat domain-containing SOCS box protein Asb-14; ankyrin repeat and SOCS box protein 14" /calculated_mol_wt=31849 sig_peptide 1..24 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2732 Region 29..156 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 31..68 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 34..129 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Site order(34..35,38..40,42..43,47,50,68,70,72,76..77,80..82, 84..85,89,92,100,102,106..107,110..112,114..115,119,122) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 70..100 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 102..128 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 105..>164 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 131..161 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 244..300 /region_name="SOCS_ASB14" /note="SOCS (suppressors of cytokine signaling) box of ASB14-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. The general function of the SOCS box is the recruitment of the ubiquitin-transferase system; cd03730" /db_xref="CDD:239700" Site order(245..250,256,269,275,280) /site_type="other" /note="putative elongin B/C interaction [polypeptide binding]" /db_xref="CDD:239700" CDS 1..302 /gene="ASB14" /coded_by="NM_130387.5:1..909" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="GeneID:142686" /db_xref="HGNC:HGNC:19766" ORIGIN 1 mlkcilkffl ralkilipvt dlaaikqsgi spvhcaaaga hpqclelliq agfdvnfmld 61 qrinkhyddh rksalyfavs nsdlssvkll lsagalpnqd pvnclqialr mgnyelisll 121 lrhganvnyf crvnplhfps alqytlkdev mlrmllnygy dtercfdcph gdkvhpsytv 181 egwtstvikd tkfcevitls wlqhlsgkvv rvmldyvdqv ricsklkavl qkqgiwseih 241 filtnprslk hlcrlkirkc mgrlhlrcpv fmsflplpnr lkayvlykey dlygqgiftg 301 tw // LOCUS NP_112166 369 aa linear PRI 21-JUN-2020 DEFINITION olfactory receptor 2T1 [Homo sapiens]. ACCESSION NP_112166 XP_060316 VERSION NP_112166.1 DBSOURCE REFSEQ: accession NM_030904.1 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 369) 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 369) 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 369) 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 REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BK004463.1. This sequence is a reference standard in the RefSeqGene project. On Oct 6, 2004 this sequence version replaced XP_060316.4. 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..369 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q44" Protein 1..369 /product="olfactory receptor 2T1" /note="olfactory receptor 1-25; olfactory receptor OR1-61" /calculated_mol_wt=41865 Site 56 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O43869.3)" Site 77..97 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O43869.3)" Region 88..355 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 92..340 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 108..128 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O43869.3)" Site 149..169 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O43869.3)" Site 192..212 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O43869.3)" Site 248..268 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O43869.3)" Site 287..307 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O43869.3)" Site 322..342 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O43869.3)" CDS 1..369 /gene="OR2T1" /gene_synonym="OR1-25" /coded_by="NM_030904.1:1..1110" /db_xref="CCDS:CCDS31115.1" /db_xref="GeneID:26696" /db_xref="HGNC:HGNC:8277" ORIGIN 1 mwqeyyflnv ffpllkvccl tinshvvill pwecyhliwk ilpyigttvg smeeyntsst 61 dftfmglfnr ketsglifai isiifftalm angvmifliq tdlrlhtpmy fllshlslid 121 mmyistivpk mlvnylldqr tisfvgctaq hflyltlvga effllglmay dryvaicnpl 181 rypvlmsrrv cwmiiagswf ggsldgfllt pitmsfpfcn sreinhffce apavlklaca 241 dtalyetvmy vccvlmllip fsvvlasyar ilttvqcmss vegrkkafat csshmtvvsl 301 fygaamytym lphsyhkpaq dkvlsvfyti ltpmlnpliy slrnkdvtga lkralgrfkg 361 pqrvsggvf // LOCUS NP_055441 306 aa linear PRI 21-JUN-2020 DEFINITION trace amine-associated receptor 2 isoform 2 [Homo sapiens]. ACCESSION NP_055441 VERSION NP_055441.2 DBSOURCE REFSEQ: accession NM_014626.3 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 306) AUTHORS Babusyte A, Kotthoff M, Fiedler J and Krautwurst D. TITLE Biogenic amines activate blood leukocytes via trace amine-associated receptors TAAR1 and TAAR2 JOURNAL J. Leukoc. Biol. 93 (3), 387-394 (2013) PUBMED 23315425 REMARK GeneRIF: biogenic amines potently regulate blood cell functions via TAAR1 and TAAR2 and open the perspective of their specific pharmacological modulation. REFERENCE 2 (residues 1 to 306) 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 306) AUTHORS Liberles SD and Buck LB. TITLE A second class of chemosensory receptors in the olfactory epithelium JOURNAL Nature 442 (7103), 645-650 (2006) PUBMED 16878137 REMARK GeneRIF: Previous studies reported TAAR expression in brain. This paper found TAAR expression only in olfactory epithelial cells and that each TAAR detects a unique set of amine ligands. TAARs seem to function as a family of chemosensory receptors for amines. REFERENCE 4 (residues 1 to 306) AUTHORS Lindemann L, Ebeling M, Kratochwil NA, Bunzow JR, Grandy DK and Hoener MC. TITLE Trace amine-associated receptors form structurally and functionally distinct subfamilies of novel G protein-coupled receptors JOURNAL Genomics 85 (3), 372-385 (2005) PUBMED 15718104 REFERENCE 5 (residues 1 to 306) AUTHORS Lee DK, Lynch KR, Nguyen T, Im DS, Cheng R, Saldivia VR, Liu Y, Liu IS, Heng HH, Seeman P, George SR, O'Dowd BF and Marchese A. TITLE Cloning and characterization of additional members of the G protein-coupled receptor family JOURNAL Biochim. Biophys. Acta 1490 (3), 311-323 (2000) PUBMED 10684976 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DN693314.1 and AY702304.1. On Sep 8, 2005 this sequence version replaced NP_055441.1. Transcript Variant: This variant (2) lacks part of the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1. FEATURES Location/Qualifiers source 1..306 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6q23.2" Protein 1..306 /product="trace amine-associated receptor 2 isoform 2" /note="G protein-coupled receptor 58" /calculated_mol_wt=34822 Region 8..>135 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 15..270 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" CDS 1..306 /gene="TAAR2" /gene_synonym="GPR58; taR-2" /coded_by="NM_014626.3:24..944" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS5157.1" /db_xref="GeneID:9287" /db_xref="HGNC:HGNC:4514" /db_xref="MIM:604849" ORIGIN 1 mysfmagsif itifgnlami isisyfkqlh tptnflilsm aitdfllgft impysmirsv 61 encwyfgltf ckiyysfdlm lsitsifhlc svaidrfyai cypllystki tipvikrlll 121 lcwsvpgafa fgvvfseaya dgiegydilv acssscpvmf nklwgttlfm agfftpgsmm 181 vgiygkifav srkhahainn lrenqnnqvk kdkkaaktlg ivigvfllcw fpcfftilld 241 pflnfstpvv lfdaltwfgy fnstcnpliy gffypwfrra lkyillgkif sscfhntilc 301 mqkese // LOCUS NP_001013680 473 aa linear PRI 21-JUN-2020 DEFINITION pentraxin-4 isoform 2 [Homo sapiens]. ACCESSION NP_001013680 XP_372607 VERSION NP_001013680.1 DBSOURCE REFSEQ: accession NM_001013658.1 KEYWORDS RefSeq. SOURCE Homo 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 Estrada K, Styrkarsdottir U, Evangelou E, Hsu YH, Duncan EL, Ntzani EE, Oei L, Albagha OM, Amin N, Kemp JP, Koller DL, Li G, Liu CT, Minster RL, Moayyeri A, Vandenput L, Willner D, Xiao SM, Yerges-Armstrong LM, Zheng HF, Alonso N, Eriksson J, Kammerer CM, Kaptoge SK, Leo PJ, Thorleifsson G, Wilson SG, Wilson JF, Aalto V, Alen M, Aragaki AK, Aspelund T, Center JR, Dailiana Z, Duggan DJ, Garcia M, Garcia-Giralt N, Giroux S, Hallmans G, Hocking LJ, Husted LB, Jameson KA, Khusainova R, Kim GS, Kooperberg C, Koromila T, Kruk M, Laaksonen M, Lacroix AZ, Lee SH, Leung PC, Lewis JR, Masi L, Mencej-Bedrac S, Nguyen TV, Nogues X, Patel MS, Prezelj J, Rose LM, Scollen S, Siggeirsdottir K, Smith AV, Svensson O, Trompet S, Trummer O, van Schoor NM, Woo J, Zhu K, Balcells S, Brandi ML, Buckley BM, Cheng S, Christiansen C, Cooper C, Dedoussis G, Ford I, Frost M, Goltzman D, Gonzalez-Macias J, Kahonen M, Karlsson M, Khusnutdinova E, Koh JM, Kollia P, Langdahl BL, Leslie WD, Lips P, Ljunggren O, Lorenc RS, Marc J, Mellstrom D, Obermayer-Pietsch B, Olmos JM, Pettersson-Kymmer U, Reid DM, Riancho JA, Ridker PM, Rousseau F, Slagboom PE, Tang NL, Urreizti R, Van Hul W, Viikari J, Zarrabeitia MT, Aulchenko YS, Castano-Betancourt M, Grundberg E, Herrera L, Ingvarsson T, Johannsdottir H, Kwan T, Li R, Luben R, Medina-Gomez C, Palsson ST, Reppe S, Rotter JI, Sigurdsson G, van Meurs JB, Verlaan D, Williams FM, Wood AR, Zhou Y, Gautvik KM, Pastinen T, Raychaudhuri S, Cauley JA, Chasman DI, Clark GR, Cummings SR, Danoy P, Dennison EM, Eastell R, Eisman JA, Gudnason V, Hofman A, Jackson RD, Jones G, Jukema JW, Khaw KT, Lehtimaki T, Liu Y, Lorentzon M, McCloskey E, Mitchell BD, Nandakumar K, Nicholson GC, Oostra BA, Peacock M, Pols HA, Prince RL, Raitakari O, Reid IR, Robbins J, Sambrook PN, Sham PC, Shuldiner AR, Tylavsky FA, van Duijn CM, Wareham NJ, Cupples LA, Econs MJ, Evans DM, Harris TB, Kung AW, Psaty BM, Reeve J, Spector TD, Streeten EA, Zillikens MC, Thorsteinsdottir U, Ohlsson C, Karasik D, Richards JB, Brown MA, Stefansson K, Uitterlinden AG, Ralston SH, Ioannidis JP, Kiel DP and Rivadeneira F. TITLE Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture JOURNAL Nat. Genet. 44 (5), 491-501 (2012) PUBMED 22504420 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 473) AUTHORS Martinez de la Torre Y, Fabbri M, Jaillon S, Bastone A, Nebuloni M, Vecchi A, Mantovani A and Garlanda C. TITLE Evolution of the pentraxin family: the new entry PTX4 JOURNAL J. Immunol. 184 (9), 5055-5064 (2010) PUBMED 20357257 REMARK GeneRIF: Study of long pentraxin PTX4 in silico and by transcript expression shows that the gene clusters alone in phylogenetic analysis, is well conserved from mammals to lower vertebrates, and has a unique pattern of messenger RNA expression. REFERENCE 3 (residues 1 to 473) 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 AE006467.1. On Mar 30, 2005 this sequence version replaced XP_372607.2. Summary: This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]. Transcript Variant: This transcript (2) uses an alternate 5' terminal exon and an alternate start codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA2151119, SAMEA2153031 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..473 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p13.3" Protein 1..473 /product="pentraxin-4 isoform 2" /note="neuronal pentraxin-like protein C16orf38; pentraxin 4, long; long pentraxin 4" /calculated_mol_wt=51175 Region 265..462 /region_name="PTX" /note="Pentraxins are plasma proteins characterized by their pentameric discoid assembly and their Ca2+ dependent ligand binding, such as Serum amyloid P component (SAP) and C-reactive Protein (CRP), which are cytokine-inducible acute-phase proteins implicated...; cd00152" /db_xref="CDD:238086" Site order(318,401,403,410,413) /site_type="other" /note="calcium mediated ligand binding site" /db_xref="CDD:238086" CDS 1..473 /gene="PTX4" /gene_synonym="C16orf38" /coded_by="NM_001013658.1:1..1422" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS32362.1" /db_xref="GeneID:390667" /db_xref="HGNC:HGNC:14171" /db_xref="MIM:613442" ORIGIN 1 mgsgnwevtg ppcgsrcerp pglprgvhgq frsavglsgl rwfrrfqevt wthlqniasn 61 ynvsynvdvr frslaeesqa vaqavnrsqa svqgelaqlk awvrklqrrg rkvdtrlral 121 dltlgersqq rarerkahka qrdalqdsla rleglvhsqg arlaalegrl pvahpgtaal 181 gpalvptptq peelgptslk lqrdrqelra asehrgppqd ssaplqgrre ppasgshrvl 241 sgtapkdprq qawspqvpge icgvgptlvf pnastrnvvf lspgfvtalr alsfcswvrt 301 asgrlgtlls yatedndnkl vlhgrdsllp gsihfvigdp afrelplqll ldgqwhhicv 361 iwtstqgryw lhvdrrlvat gsrfregyei ppggslvlgq eqdsvgggfd sseafvgsms 421 glaiwdralv pgevanlaig kefptgailt lanaalaggf vqganctcle rcp // LOCUS NP_542182 430 aa linear PRI 21-JUN-2020 DEFINITION beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7 [Homo sapiens]. ACCESSION NP_542182 NP_001122086 XP_001723364 XP_001723733 VERSION NP_542182.1 DBSOURCE REFSEQ: accession NM_080615.1 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 430) AUTHORS Li Q, Wojciechowski R, Simpson CL, Hysi PG, Verhoeven VJ, Ikram MK, Hohn R, Vitart V, Hewitt AW, Oexle K, Makela KM, MacGregor S, Pirastu M, Fan Q, Cheng CY, St Pourcain B, McMahon G, Kemp JP, Northstone K, Rahi JS, Cumberland PM, Martin NG, Sanfilippo PG, Lu Y, Wang YX, Hayward C, Polasek O, Campbell H, Bencic G, Wright AF, Wedenoja J, Zeller T, Schillert A, Mirshahi A, Lackner K, Yip SP, Yap MK, Ried JS, Gieger C, Murgia F, Wilson JF, Fleck B, Yazar S, Vingerling JR, Hofman A, Uitterlinden A, Rivadeneira F, Amin N, Karssen L, Oostra BA, Zhou X, Teo YY, Tai ES, Vithana E, Barathi V, Zheng Y, Siantar RG, Neelam K, Shin Y, Lam J, Yonova-Doing E, Venturini C, Hosseini SM, Wong HS, Lehtimaki T, Kahonen M, Raitakari O, Timpson NJ, Evans DM, Khor CC, Aung T, Young TL, Mitchell P, Klein B, van Duijn CM, Meitinger T, Jonas JB, Baird PN, Mackey DA, Wong TY, Saw SM, Parssinen O, Stambolian D, Hammond CJ, Klaver CC, Williams C, Paterson AD, Bailey-Wilson JE and Guggenheim JA. CONSRTM CREAM Consortium TITLE Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium JOURNAL Hum. Genet. 134 (2), 131-146 (2015) PUBMED 25367360 REFERENCE 2 (residues 1 to 430) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK131203.1 and AL109806.22. On or before Oct 8, 2008 this sequence version replaced NP_001122086.1, XP_001723364.1, XP_001723733.1. Transcript Variant: This variant (1, coding) differs at a polymorphic nucleotide compared to the reference genome sequence and represents the protein coding allele. ##Evidence-Data-START## Transcript exon combination :: AK131203.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2148093 [ECO:0000350] ##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..430 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20q13.31" Protein 1..430 /product="beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 7" /EC_number="2.4.1.-" /note="beta 1,6-N-acetylglucosaminyltransferase" /calculated_mol_wt=49188 Site 9..25 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6ZNI0.2)" Site 87 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6ZNI0.2)" Region 111..374 /region_name="Branch" /note="Core-2/I-Branching enzyme; pfam02485" /db_xref="CDD:280621" Site 272 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6ZNI0.2)" CDS 1..430 /gene="GCNT7" /gene_synonym="C20orf105; dJ1153D9.2; gcnt" /coded_by="NM_080615.1:707..1999" /db_xref="GeneID:140687" /db_xref="HGNC:HGNC:16099" ORIGIN 1 msqlratksg lvvravicif iflylrnptp aeseeepaqp evvecgfypd elcsalfegk 61 gaapqiakfc ktphkseiha hlhtpgncsr isrglhfitr plsaeegdfs layiitihke 121 lamfvqllra iyvpqnvyci hvdekapmky ktavqtlvnc fenvfisskt ekvayagftr 181 lqadincmkv lvhskfqwny vinlcgqdfp iktnreiihy irskwsdkni tpgviqplhi 241 ksktsqshle fvpkgsiyap pnnrfkdkpp hnltiyfgsa yyvltrkfve filtdihakd 301 mlqwskdirs peqhywvtln rlkdapgatp nagwegnvra ikrkseegnv hdgckgryve 361 dicvygpgdl pwliqspslf ankfepstdp lvvtclerrh rlqvlrqaev piephwhfqq 421 qshfnmrlnr // LOCUS NP_112165 320 aa linear PRI 21-JUN-2020 DEFINITION olfactory receptor 2W1 [Homo sapiens]. ACCESSION NP_112165 VERSION NP_112165.1 DBSOURCE REFSEQ: accession NM_030903.3 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 320) AUTHORS St Pourcain B, Whitehouse AJ, Ang WQ, Warrington NM, Glessner JT, Wang K, Timpson NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding J, Hakonarson H, Pennell CE and Smith GD. TITLE Common variation contributes to the genetic architecture of social communication traits JOURNAL Mol Autism 4 (1), 34 (2013) PUBMED 24047820 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 320) 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) REFERENCE 3 (residues 1 to 320) 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 320) 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 5 (residues 1 to 320) 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 BC103870.1. 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 :: BC103870.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..320 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p22.1" Protein 1..320 /product="olfactory receptor 2W1" /note="olfactory receptor OR6-13" /calculated_mol_wt=35970 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9Y3N9.1)" Region 25..301 /region_name="7tmA_OR2W-like" /note="olfactory receptor subfamily 2W and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors; cd15434" /db_xref="CDD:320551" Region 26..52 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:320551" Site 26..49 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y3N9.1)" Site 58..79 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y3N9.1)" Region 59..85 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320551" 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:320551" Region 97..127 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320551" Site 101..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y3N9.1)" Region 140..161 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320551" Site 140..158 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y3N9.1)" Region 195..225 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320551" Site 196..219 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y3N9.1)" Region 232..262 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320551" Site 237..259 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y3N9.1)" Region 269..294 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320551" Site 273..292 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y3N9.1)" CDS 1..320 /gene="OR2W1" /gene_synonym="hs6M1-15" /coded_by="NM_030903.3:1..963" /db_xref="CCDS:CCDS4656.1" /db_xref="GeneID:26692" /db_xref="HGNC:HGNC:8281" ORIGIN 1 mdqsnysslh gfillgfsnh pkmemilsgv vaifylitlv gntaiilasl ldsqlhtpmy 61 fflrnlsfld lcfttsiipq mlvnlwgpdk tisyvgciiq lyvymwlgsv eclllavmsy 121 drftaickpl hyfvvmnphl clkmiimiws islansvvlc tltlnlptcg nnildhflce 181 lpalvkiacv dtttvemsvf algiiivltp lililisygy iakavlrtks kasqrkamnt 241 cgshltvvsm fygtiiymyl qpgnraskdq gkfltlfytv itpslnpliy tlrnkdmkda 301 lkklmrfhhk stkikrncks // LOCUS NP_689694 369 aa linear PRI 21-JUN-2020 DEFINITION protein FAM187B precursor [Homo sapiens]. ACCESSION NP_689694 VERSION NP_689694.1 DBSOURCE REFSEQ: accession NM_152481.1 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 369) 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 AK098526.1. ##Evidence-Data-START## Transcript exon combination :: AK098526.1, BC117457.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [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..369 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.12" Protein 1..369 /product="protein FAM187B precursor" /note="transmembrane protein 162; protein FAM187B" /calculated_mol_wt=40527 sig_peptide 1..17 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1878 Site 45 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q17R55.2)" Site 68 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q17R55.2)" Site 130 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q17R55.2)" Site 336..356 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q17R55.2)" CDS 1..369 /gene="FAM187B" /gene_synonym="TMEM162" /coded_by="NM_152481.1:46..1155" /db_xref="CCDS:CCDS12448.1" /db_xref="GeneID:148109" /db_xref="HGNC:HGNC:26366" ORIGIN 1 mppmlwlllh faapalgfyf siscpsgkqc qqallsgndi llycnssgah wyylftqgkk 61 grltsltnis nmeimpegsl likdplpsqt glyhcwnkng rqvvqyeidf qdvttlhith 121 kdlgqrplqn etlhlgskql iftwwepwqd cnrceepgec krlgyryiee pleeampcwl 181 ylgevlvwss rlrpelqvea chvqctnntq lrvdyvifdn frldektefv wldcplgsmy 241 rpvnwrandt pltwesqlsg qdfttfldps tggrqlqvfq pavykcfvqq elvaqfkpaa 301 sletleaqwr endaqwrear kalrgradsv lkglklvllv vtvlallgal lkcihpspgr 361 rstqvlvvk // LOCUS NP_001005186 317 aa linear PRI 21-JUN-2020 DEFINITION olfactory receptor 6Q1 [Homo sapiens]. ACCESSION NP_001005186 XP_166910 VERSION NP_001005186.2 DBSOURCE REFSEQ: accession NM_001005186.2 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 317) 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 317) 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 317) 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 317) 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 AP003401.2. On Jul 25, 2007 this sequence version replaced NP_001005186.1. 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. 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, Jul 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 functional according to the Classifier for Olfactory Receptor Pseudogenes. This RefSeq was derived from 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 olfactory receptor gene is a segregating pseudogene (PMID:22908908), where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele that is predicted to be non-functional. This CCDS is being retained because the Classifier for Olfactory Receptor Pseudogenes (CORP) predicts the reference genome allele to be functional. ##Evidence-Data-START## Transcript is intronless :: BC151146.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## polymorphic pseudogene :: PMID: 22908908 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="11" /map="11q12.1" Protein 1..317 /product="olfactory receptor 6Q1" /note="olfactory receptor OR11-226" /calculated_mol_wt=35605 Site 7 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2)" Site 28..48 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2)" Region 33..310 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 43..294 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 57..77 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2)" Site 95 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2)" Site 104..124 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2)" Site 144..164 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2)" Site 202..221 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2)" Site 242..262 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2)" Site 276..296 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ2.2)" CDS 1..317 /gene="OR6Q1" /gene_synonym="OR11-226" /coded_by="NM_001005186.2:1..954" /db_xref="CCDS:CCDS31541.1" /db_xref="GeneID:219952" /db_xref="HGNC:HGNC:15302" ORIGIN 1 mqpytknwtq vtefvmmgfa giheahllff ilfltmylft lvenlaiilv vgldhrlrrp 61 myfflthlsc leiwytsvtv pkmlagfigv dggknisyad clsqlfiftf lgatecflla 121 amaydryvai cmplhygafv swgtcirlaa acwlvgfltp ilpiyllsql tfygpnvidh 181 fscdasplla lscsdvtwke tvdflvslav llassmviav sygnivwtll hirsaaerwk 241 afstcaahlt vvslfygtlf fmyvqtkvts sinfnkvvsv fysvvtpmln pliyslrnke 301 vkgalgrvfs lnfwkgq // LOCUS NP_001012276 474 aa linear PRI 22-JUN-2020 DEFINITION PRAME family member 8 [Homo sapiens]. ACCESSION NP_001012276 XP_372762 VERSION NP_001012276.2 DBSOURCE REFSEQ: accession NM_001012276.3 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 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. Bioinformatics 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] REFERENCE 3 (residues 1 to 474) 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 AC244216.2. On Apr 8, 2014 this sequence version replaced NP_001012276.1. 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 :: BC140755.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2145313 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##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 8" /note="putative PRAME family member 24" /calculated_mol_wt=53524 Region 97..122 /region_name="LRR 1, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2)" Region 177..201 /region_name="LRR 2, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2)" Region 202..228 /region_name="LRR 3, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2)" Region <225..408 /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" Region 229..264 /region_name="LRR 4, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2)" Region 265..290 /region_name="LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2)" Region 291..322 /region_name="LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2)" Region 323..341 /region_name="LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2)" Region 347..374 /region_name="LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2)" Region 375..399 /region_name="LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM4.2)" CDS 1..474 /gene="PRAMEF8" /gene_synonym="PRAMEF24" /coded_by="NM_001012276.3:67..1491" /db_xref="CCDS:CCDS72709.1" /db_xref="GeneID:391002" /db_xref="HGNC:HGNC:24074" ORIGIN 1 msirapprll elarqrllrd qalaistmee lprelfptlf meafsrrrce tlktmvqawp 61 ftrlplgslm ksphleslks vlegvdvllt qevrprqskl qvldlrnvde nfcdifsgat 121 asfpealsqk qtadncpgtg rqqpfmvfid lclknrtlde clthllewgk qrkgllhvcc 181 kelqvfgmpi hsiievlnmv eldciqevev ccpwelstlv kfapylgqmr nlrklvlfni 241 rasacippdn kgqfiarfts qflkldyfqn lsmhsvsfle ghldqllrcl qaslemvvmt 301 dcllsesdlk hlswcpsirq lkeldlrgvt lthfspeplt glleqvvatl qtldledcgi 361 mdsqlsailp vlsrcsqlst fsfcgnlism aalenllrht vglsklslel ypaplesydt 421 qgalcwgrfa elgaelmntl rdlrqpkiiv fctvpcprcg irasydleps hclc // LOCUS NP_001291378 589 aa linear PRI 22-JUN-2020 DEFINITION zinc finger protein 806 isoform 1 [Homo sapiens]. ACCESSION NP_001291378 XP_001724294 XP_003960359 VERSION NP_001291378.1 DBSOURCE REFSEQ: accession NM_001304449.1 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 589) 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 AC097532.3. On or before Jan 27, 2015 this sequence version replaced XP_001724294.5, XP_003960359.2. 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## RNAseq introns :: mixed/partial sample support SAMEA2151119, SAMEA2154125 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..589 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q21.2" Protein 1..589 /product="zinc finger protein 806 isoform 1" /calculated_mol_wt=67677 Region 8..>48 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 8..47 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" Region 206..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" Site order(233,236,249,253) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 261..281 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(261,264,277,281) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region <292..450 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" 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" Region 332..352 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 345..365 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(345,348,361,365) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 371..393 /region_name="zf-C2H2" /note="Zinc finger, C2H2 type; pfam00096" /db_xref="CDD:278523" Region 373..393 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(373,376,389,393) /site_type="other" /note="Zn binding site [ion binding]" /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 385..410 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 401..421 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(401,404,417,421) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 414..438 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 429..449 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(429,432,445,449) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 487..533 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(487,490,529,533) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 541..560 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" CDS 1..589 /gene="ZNF806" /coded_by="NM_001304449.1:87..1856" /note="isoform 1 is encoded by transcript variant 1" /db_xref="GeneID:646915" /db_xref="HGNC:HGNC:33228" ORIGIN 1 mikfqervtf kdiaviftke elavldkaqi nlyqdvmlen frnfisvdgi knnilnlqgk 61 gliylsqeel hcwkiwkqri rdlsvsqdyi mnlqeqcsph ledvslceew agmslqisen 121 enyvvnaiik nqditawqsl tqvltpeswr kanimtepqk sqgrykgiyv eeklyrharh 181 deslnwtsrd hhesqeckge dpgrhpncgk nlgmkstveq hhavhvlpqp ftcnncgvaf 241 addtdprvhh sthlgeksyk cdqygknlsq sqylivhckt hsgetpyefh ewptgckqss 301 dlprcqkvps gdnpykckec gkgfrcnssl hnhhrvhtge mpykchvcgk afgfrslpci 361 hqgvhtgkkp ykcedcgkgf eqssnllihq rvhtgekpyk ssecgkcfss ssvlqvhwrf 421 htgekpyrcg ecgkgfsqst hlhihqrvht gekqynamcv erilgivlff tlireftlqk 481 nhinakcves alvtvhifts ikaitqernh invmsvvkas vgiqifnvhl rvhrgqrpck 541 ckacgkgfsr nshllaqqrv ridktqythc ehgkdllthq rlheqretl // LOCUS NP_001004124 312 aa linear PRI 22-JUN-2020 DEFINITION olfactory receptor 4P4 [Homo sapiens]. ACCESSION NP_001004124 VERSION NP_001004124.1 DBSOURCE REFSEQ: accession NM_001004124.2 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 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 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]. Sequence Note: The RefSeq transcript and protein were derived from 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## 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="11q11" Protein 1..312 /product="olfactory receptor 4P4" /note="olfactory receptor, family 4, subfamily P, member 3 pseudogene; olfactory receptor 4P3" /calculated_mol_wt=35664 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGL7.1)" Site 6 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGL7.1)" Site 24..47 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGL7.1)" Region 29..301 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 39..285 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 56..77 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGL7.1)" Site 99..118 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGL7.1)" Site 138..156 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGL7.1)" Site 194..217 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGL7.1)" Site 234..256 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGL7.1)" Site 268..287 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGL7.1)" CDS 1..312 /gene="OR4P4" /gene_synonym="OR4P3P" /coded_by="NM_001004124.2:1..939" /db_xref="CCDS:CCDS31504.1" /db_xref="GeneID:81300" /db_xref="HGNC:HGNC:15180" ORIGIN 1 meksnnstlf illgfsqnkn ievlcfvlfl fcyiaiwmgn llimisitct qlihqpmyff 61 lnylslsdlc ytstvtpklm vdllaerkti synncmiqlf tthffggiei filtgmaydr 121 yvaickplhy tiimsrqkcn tiiivcctgg fihsasqfll tifvpfcgpn eidhyfcdvy 181 pllklacsni hmigllvian sglialvtfv vlllsyvfil ytiraysaer rskalatcss 241 hvivvvlffa palfiyirpv ttfsedkvfa lfytiiapmf npliytlrnt emknamrkvw 301 ccqillkrnq lf // LOCUS NP_001091876 117 aa linear PRI 22-JUN-2020 DEFINITION G antigen 12J [Homo sapiens]. ACCESSION NP_001091876 XP_001130767 VERSION NP_001091876.2 DBSOURCE REFSEQ: accession NM_001098406.2 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 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 2 (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 AK310423.1, AC233302.2, BX108227.1 and BG186708.1. On Apr 19, 2014 this sequence version replaced NP_001091876.1. ##Evidence-Data-START## Transcript exon combination :: BX108227.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142586 [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..117 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xp11.23" Protein 1..117 /product="G antigen 12J" /note="G antigen 11" /calculated_mol_wt=12766 Region 1..114 /region_name="GAGE" /note="GAGE protein; pfam05831" /db_xref="CDD:283487" CDS 1..117 /gene="GAGE12J" /gene_synonym="GAGE11" /coded_by="NM_001098406.2:124..477" /db_xref="CCDS:CCDS43939.1" /db_xref="GeneID:729396" /db_xref="HGNC:HGNC:17778" /db_xref="MIM:300733" ORIGIN 1 mswrgrstyy wprprpyvqp pemigpmrpe qfsdevepat peegepatqr qdpaaaqege 61 degasagqgp kpeadsqeqg hpqtgceced gpdgqemdpp npeevktpee gekqsqc // LOCUS NP_001269436 369 aa linear PRI 22-JUN-2020 DEFINITION nuclear pore complex-interacting protein family member A7 [Homo sapiens]. ACCESSION NP_001269436 XP_005255793 VERSION NP_001269436.1 DBSOURCE REFSEQ: accession NM_001282507.1 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 369) AUTHORS Rolland T, Tasan M, Charloteaux B, Pevzner SJ, Zhong Q, Sahni N, Yi S, Lemmens I, Fontanillo C, Mosca R, Kamburov A, Ghiassian SD, Yang X, Ghamsari L, Balcha D, Begg BE, Braun P, Brehme M, Broly MP, Carvunis AR, Convery-Zupan D, Corominas R, Coulombe-Huntington J, Dann E, Dreze M, Dricot A, Fan C, Franzosa E, Gebreab F, Gutierrez BJ, Hardy MF, Jin M, Kang S, Kiros R, Lin GN, Luck K, MacWilliams A, Menche J, Murray RR, Palagi A, Poulin MM, Rambout X, Rasla J, Reichert P, Romero V, Ruyssinck E, Sahalie JM, Scholz A, Shah AA, Sharma A, Shen Y, Spirohn K, Tam S, Tejeda AO, Trigg SA, Twizere JC, Vega K, Walsh J, Cusick ME, Xia Y, Barabasi AL, Iakoucheva LM, Aloy P, De Las Rivas J, Tavernier J, Calderwood MA, Hill DE, Hao T, Roth FP and Vidal M. TITLE A proteome-scale map of the human interactome network JOURNAL Cell 159 (5), 1212-1226 (2014) PUBMED 25416956 REFERENCE 2 (residues 1 to 369) 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 AC138969.2, BI046418.1 and BI832721.1. On Sep 12, 2013 this sequence version replaced XP_005255793.1. 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. CCDS Note: The exon combination of this CCDS representation is inferred. It is supported by partial transcript alignments and by paralogous NPIPA gene alignments. ##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 Select criteria :: based on computational evidence ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..369 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p13.11" Protein 1..369 /product="nuclear pore complex-interacting protein family member A7" /note="Nuclear pore complex-interacting protein family member A8" /calculated_mol_wt=42099 Region 22..221 /region_name="NPIP" /note="Nuclear pore complex interacting protein (NPIP); pfam06409" /db_xref="CDD:310774" CDS 1..369 /gene="NPIPA7" /gene_synonym="NPIPA8" /coded_by="NM_001282507.1:1..1110" /db_xref="CCDS:CCDS61864.1" /db_xref="GeneID:101059938" /db_xref="HGNC:HGNC:41982" ORIGIN 1 mfcclgyewl sggcttwhsa wvintladhr hrgtdfggsp wlliitvflr sykfaislct 61 sylcvsflkt ifpsqnghdg stdvqqrarr snrrrqegik ivlediftlw rqvetkvrak 121 irkmkvttkv nrhdkingkr ktakehlrkl smkerehree erqvseaeen gkldmkeiht 181 ymemfqraqa lrrraedyyr ckitpsarkp lcnrvrmaav ehrhssglpy wpyltaetlk 241 nrmghqpppp tqqhsiidns lslktpsecv lyplppsadd nlktppecll tplppsalps 301 addnlktpae cllyplppsa ddnlktppec lltplppsap psaddnlktp pecvcslpfh 361 pqrmiisrn // LOCUS NP_001157943 314 aa linear PRI 22-JUN-2020 DEFINITION testis-specific Y-encoded protein 4 [Homo sapiens]. ACCESSION NP_001157943 XP_001126990 VERSION NP_001157943.1 DBSOURCE REFSEQ: accession NM_001164471.1 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 314) 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 DB035368.1, DB476671.1, BX281192.1 and AA608988.1. On Aug 26, 2009 this sequence version replaced XP_001126990.3. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142680 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..314 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="Y" /map="Yp11.2" Protein 1..314 /product="testis-specific Y-encoded protein 4" /calculated_mol_wt=35596 Region 132..294 /region_name="NAP" /note="Nucleosome assembly protein (NAP); cl08298" /db_xref="CDD:298680" CDS 1..314 /gene="TSPY4" /gene_synonym="TSPY10; TSPY8" /coded_by="NM_001164471.1:1..945" /db_xref="CCDS:CCDS48202.1" /db_xref="GeneID:728395" /db_xref="HGNC:HGNC:37287" ORIGIN 1 mrpegsltyr vperlrqgfc gvgraaqalv casakegtaf rmeavqegaa gveseqaalg 61 eeavlllddi maevevvaev evvaeeeglv erreeaqraq qavpgpgpmt pesaleella 121 vqvelepvna qarkafsrqr ekmerrrkph ldrrgaviqs vpgfwanvia nhpqmsalit 181 dededmlsym vsleveeekh pvhlckimlf frsnpyfqnk vitkeylvni teyrashstp 241 iewypdyeve ayrrrhhnss lnffnwfsdh nfagsnkiae ilckdlwrnp lqyykrmkpp 301 eegtetsgds qlls // LOCUS NP_001012277 474 aa linear PRI 22-JUN-2020 DEFINITION PRAME family member 7 [Homo sapiens]. ACCESSION NP_001012277 XP_005263514 XP_497651 VERSION NP_001012277.2 DBSOURCE REFSEQ: accession NM_001012277.4 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 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. Bioinformatics 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC245034.2. On Apr 9, 2014 this sequence version replaced NP_001012277.1. 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/partial sample support SAMEA1968968, SAMEA2145743 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology 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 7" /calculated_mol_wt=53496 Region 97..122 /region_name="LRR 1, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2)" Region 177..201 /region_name="LRR 2, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2)" Region 202..228 /region_name="LRR 3, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2)" Region <225..408 /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" Region 229..264 /region_name="LRR 4, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2)" Region 265..290 /region_name="LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2)" Region 291..322 /region_name="LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2)" Region 323..341 /region_name="LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2)" Region 347..374 /region_name="LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2)" Region 375..399 /region_name="LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH5.2)" CDS 1..474 /gene="PRAMEF7" /coded_by="NM_001012277.4:67..1491" /db_xref="CCDS:CCDS30593.1" /db_xref="GeneID:441871" /db_xref="HGNC:HGNC:28415" ORIGIN 1 msirapprll elarqrllrd qalaistmee lprelfptlf meafsrrrce tlktmvqawp 61 ftrlplgslm ksphleslks vlegvdvllt qevrprqskl qvldlrnvde nfcdifsgat 121 asfpealsqk qtadncpgtg rqqpfmvfid lclknrtlde clthllewgk qrkgllhvcc 181 kelqvfgmpi hsiievlnmv eldciqevev ccpwelstlv kfapylgqmr nlrklvlfni 241 rasacippdn kgqfiarfts qflkldyfqn lsmhsvsfle ghldqllrcl qaslemvvmt 301 dcllsesdlk hlswcpsirq lkeldlrgvt lthfspeplt glleqavatl qtldledcgi 361 mdsqlsailp vlsrcsqlst fsfcgnlism aalenllrht vglsklslel ypaplesydt 421 qgalcwgrfa elgaelmntl rdlrqpkiiv fctvpcprcg irasydleps hclc // LOCUS NP_001264253 350 aa linear PRI 23-JUN-2020 DEFINITION nuclear pore complex-interacting protein family member A2 [Homo sapiens]. ACCESSION NP_001264253 XP_003118743 VERSION NP_001264253.1 DBSOURCE REFSEQ: accession NM_001277324.1 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 350) AUTHORS Hornan DM, Peirson SN, Hardcastle AJ, Molday RS, Cheetham ME and Webster AR. TITLE Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling JOURNAL Invest. Ophthalmol. Vis. Sci. 48 (12), 5388-5396 (2007) PUBMED 18055785 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC136443.3. On Mar 30, 2013 this sequence version replaced XP_003118743.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence data because no single transcript was available for the full length of the gene. The exon combination of this transcript is inferred based on paralogous transcript alignments. CCDS Note: This gene is one of several nuclear pore complex interacting protein (NPIP) gene copies that are present on chromosome 16. There are no full-length transcripts derived from this gene copy in support of this CCDS representation, and thus its exon combination is inferred based on paralogous transcript alignments, e.g., the mRNA AF132984.1. ##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 Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..350 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p13.11" Protein 1..350 /product="nuclear pore complex-interacting protein family member A2" /note="Nuclear pore complex-interacting protein family member A1" /calculated_mol_wt=39902 Region 22..287 /region_name="NPIP" /note="Nuclear pore complex interacting protein (NPIP); pfam06409" /db_xref="CDD:283949" CDS 1..350 /gene="NPIPA2" /gene_synonym="NPIP; NPIPA1" /coded_by="NM_001277324.1:1..1053" /db_xref="CCDS:CCDS59263.1" /db_xref="GeneID:642799" /db_xref="HGNC:HGNC:41979" ORIGIN 1 mfcclgyewl sggcktwhsa wvintladhr hrgtdfggsp wlliitvflr sykfaislct 61 sylcvsflkt ifpsqnghdg stdvqqrarr snrrrqegik ivlediftlw rqvetkvrak 121 ickmkvttkv nrhdkingkr ktakehlrkl smkerehgek erqvseaeen gkldmkeiht 181 ymemfqraqa lrrraedyyr ckitpsarkp lcnrvrmaaa ehrhssglpy wpyltaetlk 241 nrmghqpppp tqqhsiidns lslktppecl ltplppsalp saddnlktpa ecllyplpps 301 addnlktppe clltplppsa ppsaddnlkt ppkcvcslpf hpqrmiisrn // LOCUS NP_001294884 158 aa linear PRI 23-JUN-2020 DEFINITION dynactin-associated protein isoform 2 [Homo sapiens]. ACCESSION NP_001294884 XP_011524228 VERSION NP_001294884.1 DBSOURCE REFSEQ: accession NM_001307955.1 KEYWORDS RefSeq. SOURCE Homo 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 Kunoh T, Noda T, Koseki K, Sekigawa M, Takagi M, Shin-ya K, Goshima N, Iemura S, Natsume T, Wada S, Mukai Y, Ohta S, Sasaki R and Mizukami T. TITLE A novel human dynactin-associated protein, dynAP, promotes activation of Akt, and ergosterol-related compounds induce dynAP-dependent apoptosis of human cancer cells JOURNAL Mol. Cancer Ther. 9 (11), 2934-2942 (2010) PUBMED 20978158 REMARK GeneRIF: DynAP, which promotes activation of Akt, can be a new target for cancer therapy. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC091135.9. On Apr 17, 2015 this sequence version replaced XP_011524228.1. Transcript Variant: This variant (2) has a different 5' structure, initiates translation from an alternate start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct N-terminus, and 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. ##Evidence-Data-START## Transcript exon combination :: AL571729.3 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2147975, SAMEA2153031 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..158 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="18" /map="18q21.2" Protein 1..158 /product="dynactin-associated protein isoform 2" /calculated_mol_wt=17001 Region 56..85 /region_name="CLLAC" /note="CLLAC-motif containing domain; pfam15675" /db_xref="CDD:292303" CDS 1..158 /gene="DYNAP" /gene_synonym="C18orf26" /coded_by="NM_001307955.1:90..566" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS77190.1" /db_xref="GeneID:284254" /db_xref="HGNC:HGNC:26808" ORIGIN 1 meyqlldikg neqiekyswr eacdtgssrm drkhgkyiln vehsenqpvk eycrndwsmw 61 kvflacllac vimtaigvli iclvnnkgsa nssiviqlst ndgecvtvkp gtpspacppt 121 mtttstvpas tatesttsta taattstepi tvaptdhl // LOCUS NP_001096082 196 aa linear PRI 23-JUN-2020 DEFINITION pyroglutamyl-peptidase 1-like protein isoform 1 [Homo sapiens]. ACCESSION NP_001096082 XP_933067 XP_946262 VERSION NP_001096082.2 DBSOURCE REFSEQ: accession NM_001102612.2 KEYWORDS RefSeq. SOURCE Homo 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 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 AC036108.19, BC104743.1, BC104744.1 and AK058162.1. On Nov 19, 2009 this sequence version replaced NP_001096082.1. 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 :: BC104743.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03465413 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..196 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q26.3" Protein 1..196 /product="pyroglutamyl-peptidase 1-like protein isoform 1" /EC_number="3.4.19.-" /note="pyroglutamyl-peptidase 1-like protein" /calculated_mol_wt=21500 Region 8..152 /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:294167" Site order(65,127,146) /site_type="active" /note="catalytic triad [active]" /db_xref="CDD:238279" Site order(66..67,71,73,74,84..85,94..97,103,120..121,124) /site_type="other" /note="AB domain interface" /db_xref="CDD:238279" CDS 1..196 /gene="PGPEP1L" /coded_by="NM_001102612.2:301..891" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS53977.1" /db_xref="GeneID:145814" /db_xref="HGNC:HGNC:27080" ORIGIN 1 mkprtlvels klglgnetvv qlrtlelpvd yreakrrvtg iwedhqpqlv vhvgmdtaak 61 aiileqsgkn qgyrdadirs fwpeggvclp gspdvlesgv cmkavckrva vegvdvifsr 121 dagryvcdyt yylslhhgkg caalihvppl srglpasllg ralrviiqem leevgkpkhr 181 aqfeenstmv lpakgn // LOCUS NP_001278713 148 aa linear PRI 23-JUN-2020 DEFINITION grifin [Homo sapiens]. ACCESSION NP_001278713 NP_001093412 XP_001132682 XP_940745 VERSION NP_001278713.1 DBSOURCE REFSEQ: accession NM_001291784.1 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 148) AUTHORS Barton KA, Hsu CD and Petrash JM. TITLE Interactions between small heat shock protein alpha-crystallin and galectin-related interfiber protein (GRIFIN) in the ocular lens JOURNAL Biochemistry 48 (18), 3956-3966 (2009) PUBMED 19296714 REFERENCE 2 (residues 1 to 148) AUTHORS Ogden AT, Nunes I, Ko K, Wu S, Hines CS, Wang AF, Hegde RS and Lang RA. TITLE GRIFIN, a novel lens-specific protein related to the galectin family JOURNAL J. Biol. Chem. 273 (44), 28889-28896 (1998) PUBMED 9786891 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC004840.4 and KF459637.1. On Apr 26, 2014 this sequence version replaced NP_001093412.1. 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 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..148 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7p22.3" Protein 1..148 /product="grifin" /note="putative grifin" /calculated_mol_wt=16187 Region 11..139 /region_name="Gal-bind_lectin" /note="Galactoside-binding lectin; smart00908" /db_xref="CDD:214904" Site order(14..16,19,22,94..95,98,103,105,108) /site_type="other" /note="putative alternate dimerization interface [polypeptide binding]" /db_xref="CDD:238025" Site order(46,48,50,57,59,66,69,71) /site_type="other" /note="sugar binding pocket [chemical binding]" /db_xref="CDD:238025" CDS 1..148 /gene="GRIFIN" /coded_by="NM_001291784.1:1..447" /db_xref="GeneID:402635" /db_xref="HGNC:HGNC:4577" ORIGIN 1 mavqskafca gglapgwkll vqghadsged rfetnfllet gdiafhikpr fssatvvgna 61 fqygrwgpeq vssifplapg epfevtgawp aqievswdae hfhvyapehk vlqfpcrqrp 121 lgattrvrvl sdhclaqvel akrglswg // LOCUS NP_001264252 350 aa linear PRI 23-JUN-2020 DEFINITION nuclear pore complex-interacting protein family member A3 [Homo sapiens]. ACCESSION NP_001264252 XP_003118740 VERSION NP_001264252.1 DBSOURCE REFSEQ: accession NM_001277323.1 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 350) AUTHORS Hornan DM, Peirson SN, Hardcastle AJ, Molday RS, Cheetham ME and Webster AR. TITLE Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling JOURNAL Invest. Ophthalmol. Vis. Sci. 48 (12), 5388-5396 (2007) PUBMED 18055785 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC009167.9 and AC136443.3. On Mar 30, 2013 this sequence version replaced XP_003118740.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence data because no single transcript was available for the full length of the gene. The exon combination of this transcript is inferred based on paralogous transcript alignments. CCDS Note: This gene is one of several nuclear pore complex interacting protein (NPIP) gene copies that are present on chromosome 16. There are no full-length transcripts derived from this gene copy in support of this CCDS representation, and thus its exon combination is inferred based on paralogous transcript alignments, e.g., the mRNA AF132984.1. ##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 Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..350 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p13.11" Protein 1..350 /product="nuclear pore complex-interacting protein family member A3" /calculated_mol_wt=39930 Region 22..287 /region_name="NPIP" /note="Nuclear pore complex interacting protein (NPIP); pfam06409" /db_xref="CDD:283949" CDS 1..350 /gene="NPIPA3" /coded_by="NM_001277323.1:1..1053" /db_xref="CCDS:CCDS59262.1" /db_xref="GeneID:642778" /db_xref="HGNC:HGNC:41978" ORIGIN 1 mfcclgyewl sggcktwhsa wvintladhr hrgtdfggsp wlliitvflr sykfaislct 61 sylcvsflkt ifpsqnghdg stdvqqrarr snrrrqegik ivlediftlw rqvetkvrak 121 ickmkvttkv nrhdkingkr ktakehlrkl smkerehgek erqvseaeen gkldmkeiht 181 ymemfqraqa lrrraedyyr ckitpsarkp lcnrvrmaaa ehrhssglpy wpyltaetlk 241 nrmghqpppp tqqhsiidns lslktppecl ltplppsalp saddnlktpa ecllyplpps 301 addnlktppe clltplppsa ppsvddnlkt ppkcvcslpf hpqrmiisrn // LOCUS NP_001093157 124 aa linear PRI 23-JUN-2020 DEFINITION TP53-target gene 3 protein [Homo sapiens]. ACCESSION NP_001093157 XP_001133687 VERSION NP_001093157.1 DBSOURCE REFSEQ: accession NM_001099687.3 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 124) 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 124) AUTHORS Ng CC, Koyama K, Okamura S, Kondoh H, Takei Y and Nakamura Y. TITLE Isolation and characterization of a novel TP53-inducible gene, TP53TG3 JOURNAL Genes Chromosomes Cancer 26 (4), 329-335 (1999) PUBMED 10534768 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC141257.2 and CA425760.1. On Jul 25, 2007 this sequence version replaced XP_001133687.1. Transcript Variant: This variant (1) represents the shorter transcript and 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. ##Evidence-Data-START## Transcript exon combination :: N64770.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on computational evidence ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..124 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p11.2" Protein 1..124 /product="TP53-target gene 3 protein" /note="TP53-inducible gene 3 protein" /calculated_mol_wt=12697 CDS 1..124 /gene="TP53TG3B" /gene_synonym="TP53TG3E; TP53TG3F" /coded_by="NM_001099687.3:33..407" /db_xref="CCDS:CCDS45477.1" /db_xref="GeneID:729355" /db_xref="HGNC:HGNC:37202" ORIGIN 1 mraspcisqp aaswhprpsa lrptagsgpd trtpgtvedg sapcpafrsp avspcgeepc 61 cfqispaeet lelgrlvspg ncdtlspraa gfyachvrsl ipcrstkgrw pltasaagls 121 sfsg // LOCUS NP_001116864 549 aa linear PRI 23-JUN-2020 DEFINITION TBC1 domain family member 3H [Homo sapiens]. ACCESSION NP_001116864 NP_001152804 XP_001134202 VERSION NP_001116864.3 DBSOURCE REFSEQ: accession NM_001123392.3 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 549) AUTHORS Hodzic D, Kong C, Wainszelbaum MJ, Charron AJ, Su X and Stahl PD. TITLE TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12 JOURNAL Genomics 88 (6), 731-736 (2006) PUBMED 16863688 REFERENCE 2 (residues 1 to 549) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DC398423.1, CB131287.1, BX281608.1, BM844606.1, BI597531.1, EL953327.1, DB512851.2 and BQ292452.1. On Aug 18, 2013 this sequence version replaced NP_001116864.2. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.125588.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on computational evidence ##RefSeq-Attributes-END## 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 3H" /note="TBC1 domain family member 3-like" /calculated_mol_wt=62088 Region 99..312 /region_name="TBC" /note="Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs; smart00164" /db_xref="CDD:214540" CDS 1..549 /gene="TBC1D3H" /coded_by="NM_001123392.3:115..1764" /db_xref="CCDS:CCDS45653.1" /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 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 NP_001244234 121 aa linear PRI 23-JUN-2020 DEFINITION keratin-associated protein 1-4 [Homo sapiens]. ACCESSION NP_001244234 XP_003846334 XP_003846528 XP_003846646 VERSION NP_001244234.1 DBSOURCE REFSEQ: accession NM_001257305.1 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 121) 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 121) AUTHORS Shimomura Y, Aoki N, Schweizer J, Langbein L, Rogers MA, Winter H and Ito M. TITLE Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family JOURNAL J. Biol. Chem. 277 (47), 45493-45501 (2002) PUBMED 12228244 REMARK GeneRIF: no polymorphic alleles were found for the hKAP1.4 and hKAP1.5 genes in Japanese and Caucasian individuals REFERENCE 3 (residues 1 to 121) 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 AC007455.7. On or before Sep 27, 2012 this sequence version replaced XP_003846528.1, XP_003846646.1, XP_003846334.1. Summary: The main structural proteins of mammalian hair fiber are the hair keratins (see MIM 601077) and the keratin-associated proteins (KAPs), which form a rigid and resistant hair shaft through extensive disulfide bond crosslinking with the abundant cysteines of hair keratins (Shimomura et al., 2002 [PubMed 12228244]).[supplied by OMIM, Jan 2009]. ##RefSeq-Attributes-START## 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="17" /map="17q21.2" Protein 1..121 /product="keratin-associated protein 1-4" /note="keratin-associated protein 1.4; high sulfur keratin-associated protein 1.4" /calculated_mol_wt=12193 Region <3..121 /region_name="Keratin_B2" /note="Keratin, high sulfur B2 protein; pfam01500" /db_xref="CDD:279797" Region 3..35 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" CDS 1..121 /gene="KRTAP1-4" /gene_synonym="KAP1.4; KRTAP1.4" /coded_by="NM_001257305.1:48..413" /db_xref="CCDS:CCDS58548.1" /db_xref="GeneID:728255" /db_xref="HGNC:HGNC:18904" /db_xref="MIM:608821" ORIGIN 1 mascstsgtc gssccqpscc etsccqpscc qtsscgtgcg igggigygqe gsggsvstri 61 rwchpdchve gtclppcylv sctppsccql hhaeasccrp sycgqsccrp accchccept 121 c // LOCUS NP_001352595 268 aa linear PRI 23-JUN-2020 DEFINITION proline rich transmembrane protein 1B [Homo sapiens]. ACCESSION NP_001352595 VERSION NP_001352595.1 DBSOURCE REFSEQ: accession NM_001365666.1 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 268) 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 PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AL160276.21. 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. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..268 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q34.13" Protein 1..268 /product="proline rich transmembrane protein 1B" /note="proline-rich transmembrane protein 1-like; dispanin subfamily D member 2" /calculated_mol_wt=26951 Region <19..183 /region_name="Atrophin-1" /note="Atrophin-1 family; cl26464" /db_xref="CDD:331285" Region 191..257 /region_name="CD225" /note="Interferon-induced transmembrane protein; pfam04505" /db_xref="CDD:309587" CDS 1..268 /gene="PRRT1B" /gene_synonym="DSPD2; IFITMD8" /coded_by="NM_001365666.1:94..900" /db_xref="GeneID:642515" /db_xref="HGNC:HGNC:53642" ORIGIN 1 meagaggaga ggagsdtkgg gspatpedpr spakpaaped pqmpaqpalp qlprrprtld 61 edgapsedga aggsepaped apaqaageag pvskaaagga phigfvgepp pyappdpkaa 121 pllyppfpqv pvvlqpapsa lfpppaqlyp aaptppalfs ppagaafpfp vyngpmagvp 181 gpatvehrpl pkdymmesvl vtlfcclltg liaivyshea raalgrgdla qaeeasrkar 241 slvlfsllfg vfvstswviy vvvalylp // LOCUS NP_001091882 117 aa linear PRI 23-JUN-2020 DEFINITION G antigen 13 [Homo sapiens]. ACCESSION NP_001091882 NP_001078910 XP_001713712 VERSION NP_001091882.2 DBSOURCE REFSEQ: accession NM_001098412.2 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC233302.2. On Apr 17, 2014 this sequence version replaced NP_001091882.1. 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, SAMEA2142586 [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..117 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xp11.23" Protein 1..117 /product="G antigen 13" /note="G antigen 12A" /calculated_mol_wt=12826 Region 1..111 /region_name="GAGE" /note="GAGE protein; pfam05831" /db_xref="CDD:310430" CDS 1..117 /gene="GAGE13" /gene_synonym="GAGE-12A; GAGE-13; GAGE12A" /coded_by="NM_001098412.2:96..449" /db_xref="CCDS:CCDS48110.1" /db_xref="GeneID:645051" /db_xref="HGNC:HGNC:29081" /db_xref="MIM:300734" ORIGIN 1 mswrgrstyy wprprryvep pemigpmrpe qfsdevepat peegepatqr qdpaaaqege 61 degasagqgp kpeadsqeqg hpqtgceced gpdgqemdpp npeevktpee gekqsqc // LOCUS NP_001265321 374 aa linear PRI 23-JUN-2020 DEFINITION carcinoembryonic antigen-related cell adhesion molecule 18 precursor [Homo sapiens]. ACCESSION NP_001265321 VERSION NP_001265321.1 DBSOURCE REFSEQ: accession NM_001278392.1 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 374) AUTHORS Zebhauser R, Kammerer R, Eisenried A, McLellan A, Moore T and Zimmermann W. TITLE Identification of a novel group of evolutionarily conserved members within the rapidly diverging murine Cea family JOURNAL Genomics 86 (5), 566-580 (2005) PUBMED 16139472 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC020914.9. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence because there are no available transcripts for this gene. The exon combination is predicted based on homologous mouse transcript alignments and on prediction data in PMID:16139472. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA2153932, SAMN03267782 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: PMID: 16139472 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..374 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.41" Protein 1..374 /product="carcinoembryonic antigen-related cell adhesion molecule 18 precursor" /note="carcinoembryonic antigen related cell adhesion molecule 18" /calculated_mol_wt=38444 sig_peptide 1..30 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3425 Region 42..132 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:299845" Site 108 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A8MTB9.4)" Site 112 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A8MTB9.4)" Site 121 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A8MTB9.4)" Region 137..>199 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:299845" Site 162 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A8MTB9.4)" Region 243..313 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" Region 247..302 /region_name="IGc2" /note="Immunoglobulin C-2 Type; smart00408" /db_xref="CDD:197706" Site 270 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A8MTB9.4)" CDS 1..374 /gene="CEACAM18" /coded_by="NM_001278392.1:1..1125" /db_xref="GeneID:729767" /db_xref="HGNC:HGNC:31949" ORIGIN 1 mdlsrprwsl wrrvflmasl lacgicqasg qifitqtlgi kgyrtvvald kvpedvqeys 61 wywgandsag nmiishkpps aqqpgpmytg rervnregsl lirptalndt gnytvrvvag 121 netqratgwl evlelgsnlg isvnasslve nmdsvaadcl tnvtnitwyv ndvptsssdr 181 mtispdgktl vilrvsrydr tiqcmiesfp eifqrseris ltvaygpdyv llrsnpddfn 241 givtaeigsq vemecicysf ldlkyhwihn gsllnfsdak mnlsslaweq mgryrctven 301 pvtqlimymd vriqaphecp lpsgilpvvh rdfsisgsmv mflimltvlg gvyicgvlih 361 alinhysirt nrap // LOCUS NP_001355057 164 aa linear PRI 23-JUN-2020 DEFINITION peptidyl-prolyl cis-trans isomerase A-like 4H [Homo sapiens]. ACCESSION NP_001355057 XP_011508569 VERSION NP_001355057.1 DBSOURCE REFSEQ: accession NM_001368128.1 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 164) 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC243756.3. On Jan 15, 2019 this sequence version replaced XP_011508569.1. 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..164 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q21.1" Protein 1..164 /product="peptidyl-prolyl cis-trans isomerase A-like 4H" /EC_number="5.2.1.8" /note="peptidyl-prolyl cis-trans isomerase A-like 4C; PPIase A-like 4H" /calculated_mol_wt=18077 Site 71 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated from UniProtKB/Swiss-Prot (A0A075B767.1)" Site 108 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated from UniProtKB/Swiss-Prot (A0A075B767.1)" CDS 1..164 /gene="PPIAL4H" /coded_by="NM_001368128.1:193..687" /db_xref="GeneID:105371242" /db_xref="HGNC:HGNC:53889" ORIGIN 1 mvnsvvffdi tvdgkplgri siklfadkip ktaenfrals tgekgfrykg scfhriipgf 61 mcqggdftrp ngtddksiyg ekfddenlir khtgsgilsm vnagpntngs qlfictakte 121 wldgkhvafg kvkervnive amehfgyrns ktskkitiad cgqf // LOCUS NP_001281068 229 aa linear PRI 23-JUN-2020 DEFINITION PRAME family member 1 isoform 2 [Homo sapiens]. ACCESSION NP_001281068 VERSION NP_001281068.1 DBSOURCE REFSEQ: accession NM_001294139.1 KEYWORDS RefSeq. SOURCE Homo 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 Birtle Z, Goodstadt L and Ponting C. TITLE Duplication and positive selection among hominin-specific PRAME genes JOURNAL BMC Genomics 6, 120 (2005) PUBMED 16159394 REMARK Publication Status: Online-Only COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC244670.3. Summary: This gene is a member of the PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. Alternative promoter usage generates two transcript variants, which encode different isoforms. [provided by RefSeq, Jun 2014]. Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (2) 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. ##Evidence-Data-START## Transcript exon combination :: BC040902.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..229 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.21" Protein 1..229 /product="PRAME family member 1 isoform 2" /calculated_mol_wt=25556 CDS 1..229 /gene="PRAMEF1" /coded_by="NM_001294139.1:149..838" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:65121" /db_xref="HGNC:HGNC:28840" ORIGIN 1 mkggkahqtc pfhnrtsvlt glvitndpvs dslfvkgcfe lqerclqnpl enleltygyl 61 leedmkclsq ypslgylkhl nlsyvllfri sleplgalle kiaaslktli legcqihysq 121 lsailpglsr csqlttfyfg rncmsidalk dllrhtsgls klsletypap eeslnslvrv 181 nweiftplra elmctlrevr qpkrifigpt pcpscgssps eelelhlcc // LOCUS NP_001192188 124 aa linear PRI 23-JUN-2020 DEFINITION TP53-target gene 3 protein [Homo sapiens]. ACCESSION NP_001192188 XP_001725864 VERSION NP_001192188.1 DBSOURCE REFSEQ: accession NM_001205259.2 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 124) 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 2 (residues 1 to 124) AUTHORS Ng CC, Koyama K, Okamura S, Kondoh H, Takei Y and Nakamura Y. TITLE Isolation and characterization of a novel TP53-inducible gene, TP53TG3 JOURNAL Genes Chromosomes Cancer 26 (4), 329-335 (1999) PUBMED 10534768 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC138869.2 and DT215671.1. On Apr 6, 2011 this sequence version replaced XP_001725864.2. Transcript Variant: This variant (1) represents the shorter transcript and 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. ##Evidence-Data-START## Transcript exon combination :: DT215671.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on computational evidence ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..124 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p11.2" Protein 1..124 /product="TP53-target gene 3 protein" /note="TP53-inducible gene 3 protein" /calculated_mol_wt=12697 CDS 1..124 /gene="TP53TG3C" /gene_synonym="TP53TG3; TP53TG3E; TP53TG3F" /coded_by="NM_001205259.2:31..405" /db_xref="CCDS:CCDS58458.1" /db_xref="GeneID:653550" /db_xref="HGNC:HGNC:42962" ORIGIN 1 mraspcisqp aaswhprpsa lrptagsgpd trtpgtvedg sapcpafrsp avspcgeepc 61 cfqispaeet lelgrlvspg ncdtlspraa gfyachvrsl ipcrstkgrw pltasaagls 121 sfsg // LOCUS NP_695000 304 aa linear PRI 23-JUN-2020 DEFINITION PI-PLC X domain-containing protein 2 isoform b [Homo sapiens]. ACCESSION NP_695000 VERSION NP_695000.1 DBSOURCE REFSEQ: accession NM_153268.3 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 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 304) 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 AK056141.1 and AC117509.9. Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting protein (isoform b) has a distinct C-terminus and is shorter than isoform a. ##Evidence-Data-START## Transcript exon combination :: AK056141.1, BC121156.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03465404, SAMN03465410 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..304 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q13.2" Protein 1..304 /product="PI-PLC X domain-containing protein 2 isoform b" /note="PI-PLC X domain-containing protein 2" /calculated_mol_wt=34636 Region 39..289 /region_name="PI-PLCXD1c" /note="Catalytic domain of phosphatidylinositol-specific phospholipase C, X domain containing 1; cd08616" /db_xref="CDD:176555" Site order(57,116,132,162,213,232,234) /site_type="active" /note="putative active site [active]" /db_xref="CDD:176555" Site order(57,132) /site_type="active" /note="catalytic site [active]" /db_xref="CDD:176555" CDS 1..304 /gene="PLCXD2" /coded_by="NM_153268.3:571..1485" /note="isoform b is encoded by transcript variant 2" /db_xref="CCDS:CCDS2961.1" /db_xref="GeneID:257068" /db_xref="HGNC:HGNC:26462" /db_xref="MIM:617015" ORIGIN 1 mlavrkarrk lrmgticspn psgtktssev cnadwmaslp phlhnlplsn laipgshdsf 61 sywvdekspv gpdqtqaikr larislvkkl mkkwsvtqnl tfreqleagi ryfdlrvssk 121 pgdadqeiyf ihglfgikvw dglmeidsfl tqhpqeiifl dfnhfyamde thhkclvlri 181 qeafgnklcp acsvesltlr tlwekncqvl ifyhcpfykq ypflwpgkki papwanttsv 241 rklilflett lserasrgsf hvsqailtpr vktiarglvg glkntlvhrl alipvyplrf 301 srrs // LOCUS NP_001278392 549 aa linear PRI 23-JUN-2020 DEFINITION TBC1 domain family member 3I [Homo sapiens]. ACCESSION NP_001278392 XP_006722288 XP_006725433 XP_006725639 XP_006726784 VERSION NP_001278392.1 DBSOURCE REFSEQ: accession NM_001291463.1 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 549) AUTHORS Hodzic D, Kong C, Wainszelbaum MJ, Charron AJ, Su X and Stahl PD. TITLE TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12 JOURNAL Genomics 88 (6), 731-736 (2006) PUBMED 16863688 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC243829.3. On or before Apr 16, 2014 this sequence version replaced XP_006725433.1, XP_006725639.1, XP_006722288.1, XP_006726784.1. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on computational evidence ##RefSeq-Attributes-END## 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 3I" /note="TBC1 domain family member-like; TBC1 domain family member 3; Prostate cancer gene 17 protein; Protein TRE17-alpha; Rab GTPase-activating protein PRC17" /calculated_mol_wt=62074 Region 99..312 /region_name="TBC" /note="Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs; smart00164" /db_xref="CDD:214540" CDS 1..549 /gene="TBC1D3I" /gene_synonym="PRC17; TBC1D3; TBC1D3A" /coded_by="NM_001291463.1:101..1750" /db_xref="CCDS:CCDS74039.1" /db_xref="GeneID:102724862" /db_xref="HGNC:HGNC:32709" ORIGIN 1 mdvvevagsw waqerediim kyekghragl pedkgpkpfr synnnvdhlg ivhetelppl 61 tareakqirr eisrkskwvd mlgdwekyks srklidrayk gmpmnirgpm wsvllnteem 121 kmknpgryqi 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 NP_001138523 219 aa linear PRI 23-JUN-2020 DEFINITION transmembrane protein 247 [Homo sapiens]. ACCESSION NP_001138523 XP_001718928 XP_371491 XP_946438 VERSION NP_001138523.1 DBSOURCE REFSEQ: accession NM_001145051.2 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 219) 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 AA431175.1, AC018682.4 and AA432195.1. On or before Feb 9, 2009 this sequence version replaced XP_371491.5, XP_946438.3, XP_001718928.1. 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 :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## polyA required for stop codon :: translation inferred 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="2" /map="2p21" Protein 1..219 /product="transmembrane protein 247" /note="transmembrane protein ENSP00000343375" /calculated_mol_wt=25037 Region 1..219 /region_name="TMEM247" /note="Transmembrane protein 247; pfam15444" /db_xref="CDD:292084" Site 167..187 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NEH6.2)" Site 194..214 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NEH6.2)" CDS 1..219 /gene="TMEM247" /coded_by="NM_001145051.2:22..681" /db_xref="CCDS:CCDS56117.1" /db_xref="GeneID:388946" /db_xref="HGNC:HGNC:42967" ORIGIN 1 maaedremme argagescpt fpkmvpgdsk segkprayle aesqkpdssy dyleemeace 61 dggcqgplks lspkscratk gqagdgpkpa elpptpgter npemelekvr mefeltrlky 121 lheknqrqrq hevvmeqlqr erqhevvmeq lqqeaaprlf sgglqnfllp qnqfamflyc 181 fifihiiyvt kemvfflfak hylfciaail lcliktfws // LOCUS NP_001004699 314 aa linear PRI 23-JUN-2020 DEFINITION olfactory receptor 2Z1 [Homo sapiens]. ACCESSION NP_001004699 XP_210382 VERSION NP_001004699.1 DBSOURCE REFSEQ: accession NM_001004699.2 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 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 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 REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC151149.1 and BC137046.1. This sequence is a reference standard in the RefSeqGene project. On Sep 19, 2004 this sequence version replaced XP_210382.1. 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 :: BC151149.1, BC137046.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## 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="19" /map="19p13.2" Protein 1..314 /product="olfactory receptor 2Z1" /note="olfactory receptor, family 2, subfamily Z, member 2; olfactory receptor OR19-4; olfactory receptor 2Z2" /calculated_mol_wt=34313 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NG97.1)" Site 26..49 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG97.1)" Region 34..306 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 41..290 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 58..79 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG97.1)" Site 101..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG97.1)" Site 140..158 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG97.1)" Site 196..219 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG97.1)" Site 237..259 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG97.1)" Site 273..292 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NG97.1)" CDS 1..314 /gene="OR2Z1" /gene_synonym="OR19-4; OR2Z2" /coded_by="NM_001004699.2:76..1020" /db_xref="CCDS:CCDS32895.1" /db_xref="GeneID:284383" /db_xref="HGNC:HGNC:15391" ORIGIN 1 mgdvnqsvas dfilvglfsh sgsrqllfsl vavmfvigll gntvllflir vdsrlhtpmy 61 fllsqlslfd igcpmvtipk masdflrgeg atsygggaaq iffltlmgva egvllvlmsy 121 dryvavcqpl qypvlmrrqv cllmmgsswv vgvlnasiqt sitlhfpyca srivdhffce 181 vpallklsca dtcayemals tsgvlilmlp lsliatsygh vlqavlsmrs eearhkavtt 241 csshitvvgl fygaavfmym vpcayhspqq dnvvslfysl vtptlnpliy slrnpevwma 301 lvkvlsragl rqmc // LOCUS NP_001347100 304 aa linear PRI 26-JUN-2020 DEFINITION killer cell immunoglobulin-like receptor 2DS3-like precursor [Homo sapiens]. ACCESSION NP_001347100 VERSION NP_001347100.1 DBSOURCE REFSEQ: accession NM_001360171.1 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 304) AUTHORS Alvarado-Hernandez DL, Benitez-Sanchez A, Rodriguez-Cuevas JS, Rosales-Saavedra T, Guerra-Palomares SE, Comas-Garcia A, Noyola DE and Garcia-Sepulveda CA. TITLE Killer-cell immunoglobulin-like receptors and cytomegalovirus reactivation during late pregnancy JOURNAL Int. J. Immunogenet. 43 (4), 189-199 (2016) PUBMED 27277336 REMARK GeneRIF: We observed statistically lower carrier frequencies of cB03|tA01 gene-content haplotype, of cB03 haplotype motif, of the KIR2DL5 + 2DS3/2DS5 gene pair and of KIR2DL5 amongst CMV-positive pregnant women in comparison with those CMV negative REFERENCE 2 (residues 1 to 304) AUTHORS Pyo CW, Guethlein LA, Vu Q, Wang R, Abi-Rached L, Norman PJ, Marsh SG, Miller JS, Parham P and Geraghty DE. TITLE Different patterns of evolution in the centromeric and telomeric regions of group A and B haplotypes of the human killer cell Ig-like receptor locus JOURNAL PLoS ONE 5 (12), e15115 (2010) PUBMED 21206914 REMARK Publication Status: Online-Only COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from GU182339.1. 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 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..304 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19" Protein 1..304 /product="killer cell immunoglobulin-like receptor 2DS3-like precursor" /note="killer cell immunoglobulin-like receptor 2DS3 allele 0020101" /calculated_mol_wt=31359 sig_peptide 1..21 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2375 Region 28..122 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:325142" Region 128..216 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:325142" CDS 1..304 /gene="LOC102725023" /gene_synonym="KIR2DS3" /coded_by="NM_001360171.1:1..915" /db_xref="GeneID:102725023" ORIGIN 1 mslmvismac vgffwlqgaw phegfrrkps llahpgrlvk seetvilqcw sdvmfehfll 61 hregtfndtl rligehidgv skanfsigrm rqdlagtyrc ygsvphspyq fsapsdpldi 121 vitglyekps lsaqpgptvl agesvtlscs swssydmyhl stegeaherr fsagpkvngt 181 fqadfplgpa tqggtyrcfg sfhdspyews kssdpllvsv tgnpsnswps ptepssktgn 241 prhlhvligt svvklpftil lffllhrwcs nkknasvmdq gpagnrtvnr edsdeqdhqe 301 vsya // LOCUS NP_001355178 600 aa linear PRI 26-JUN-2020 DEFINITION proline dehydrogenase 1, mitochondrial isoform 1 precursor [Homo sapiens]. ACCESSION NP_001355178 XP_006724998 VERSION NP_001355178.1 DBSOURCE REFSEQ: accession NM_001368249.2 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 600) 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 2 (residues 1 to 600) 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 AC007325.51. On Jan 31, 2019 this sequence version replaced XP_006724998.1. 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 :: BC068260.1, SRR7346977.1238760.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology RefSeq Select criteria :: based on manual assertion, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..600 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="22" /map="22" Protein 1..600 /product="proline dehydrogenase 1, mitochondrial isoform 1 precursor" /EC_number="1.5.5.2" /calculated_mol_wt=67870 CDS 1..600 /gene="LOC102724788" /coded_by="NM_001368249.2:7..1809" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="GeneID:102724788" ORIGIN 1 malrralpal rpciprfvpl stapasreqp aagpaavpgg gsatavrppv pavdfgnaqe 61 ayrsrrtwel arsllvlrlc awpallarhe qllyvsrkll gqrlfnklmk mtfyghfvag 121 edqesiqpll rhyrafgvsa ildygveedl speeaehkem esctsaaerd gsgtnkrdkq 181 yqahwafgdr rngvisarty fyaneakcds hmetflrcie asgrvsddgf iaikltalgr 241 pqfllqfsev lakwrcffhq maveqgqagl aamdtkleva vlqesvaklg iasraeiedw 301 ftaetlgvsg tmdlldwssl idsrtklskh lvvpnaqtgq lepllsrfte eeelqmtrml 361 qrmdvlakka temgvrlmvd aeqtyfqpai srltlemqrk fnvekplifn tyqcylkday 421 dnvtldvela rregwcfgak lvrgaylaqe raraaeigye dpinptyeat namyhrcldy 481 vleelkhnak akvmvashne dtvrfalrrm eelglhpadh qvyfgqllgm cdqisfplgq 541 agypvykyvp ygpvmevlpy lsrralenss lmkgthrerq llwlellrrl rtgnlfhrpa // LOCUS NP_001371669 421 aa linear PRI 26-JUN-2020 DEFINITION archaemetzincin-1 isoform 5 [Homo sapiens]. ACCESSION NP_001371669 VERSION NP_001371669.1 DBSOURCE REFSEQ: accession NM_001384740.1 KEYWORDS RefSeq. SOURCE Homo 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 Berndt SI, Gustafsson S, Magi R, Ganna A, Wheeler E, Feitosa MF, Justice AE, Monda KL, Croteau-Chonka DC, Day FR, Esko T, Fall T, Ferreira T, Gentilini D, Jackson AU, Luan J, Randall JC, Vedantam S, Willer CJ, Winkler TW, Wood AR, Workalemahu T, Hu YJ, Lee SH, Liang L, Lin DY, Min JL, Neale BM, Thorleifsson G, Yang J, Albrecht E, Amin N, Bragg-Gresham JL, Cadby G, den Heijer M, Eklund N, Fischer K, Goel A, Hottenga JJ, Huffman JE, Jarick I, Johansson A, Johnson T, Kanoni S, Kleber ME, Konig IR, Kristiansson K, Kutalik Z, Lamina C, Lecoeur C, Li G, Mangino M, McArdle WL, Medina-Gomez C, Muller-Nurasyid M, Ngwa JS, Nolte IM, Paternoster L, Pechlivanis S, Perola M, Peters MJ, Preuss M, Rose LM, Shi J, Shungin D, Smith AV, Strawbridge RJ, Surakka I, Teumer A, Trip MD, Tyrer J, Van Vliet-Ostaptchouk JV, Vandenput L, Waite LL, Zhao JH, Absher D, Asselbergs FW, Atalay M, Attwood AP, Balmforth AJ, Basart H, Beilby J, Bonnycastle LL, Brambilla P, Bruinenberg M, Campbell H, Chasman DI, Chines PS, Collins FS, Connell JM, Cookson WO, de Faire U, de Vegt F, Dei M, Dimitriou M, Edkins S, Estrada K, Evans DM, Farrall M, Ferrario MM, Ferrieres J, Franke L, Frau F, Gejman PV, Grallert H, Gronberg H, Gudnason V, Hall AS, Hall P, Hartikainen AL, Hayward C, Heard-Costa NL, Heath AC, Hebebrand J, Homuth G, Hu FB, Hunt SE, Hypponen E, Iribarren C, Jacobs KB, Jansson JO, Jula A, Kahonen M, Kathiresan S, Kee F, Khaw KT, Kivimaki M, Koenig W, Kraja AT, Kumari M, Kuulasmaa K, Kuusisto J, Laitinen JH, Lakka TA, Langenberg C, Launer LJ, Lind L, Lindstrom J, Liu J, Liuzzi A, Lokki ML, Lorentzon M, Madden PA, Magnusson PK, Manunta P, Marek D, Marz W, Mateo Leach I, McKnight B, Medland SE, Mihailov E, Milani L, Montgomery GW, Mooser V, Muhleisen TW, Munroe PB, Musk AW, Narisu N, Navis G, Nicholson G, Nohr EA, Ong KK, Oostra BA, Palmer CN, Palotie A, Peden JF, Pedersen N, Peters A, Polasek O, Pouta A, Pramstaller PP, Prokopenko I, Putter C, Radhakrishnan A, Raitakari O, Rendon A, Rivadeneira F, Rudan I, Saaristo TE, Sambrook JG, Sanders AR, Sanna S, Saramies J, Schipf S, Schreiber S, Schunkert H, Shin SY, Signorini S, Sinisalo J, Skrobek B, Soranzo N, Stancakova A, Stark K, Stephens JC, Stirrups K, Stolk RP, Stumvoll M, Swift AJ, Theodoraki EV, Thorand B, Tregouet DA, Tremoli E, Van der Klauw MM, van Meurs JB, Vermeulen SH, Viikari J, Virtamo J, Vitart V, Waeber G, Wang Z, Widen E, Wild SH, Willemsen G, Winkelmann BR, Witteman JC, Wolffenbuttel BH, Wong A, Wright AF, Zillikens MC, Amouyel P, Boehm BO, Boerwinkle E, Boomsma DI, Caulfield MJ, Chanock SJ, Cupples LA, Cusi D, Dedoussis GV, Erdmann J, Eriksson JG, Franks PW, Froguel P, Gieger C, Gyllensten U, Hamsten A, Harris TB, Hengstenberg C, Hicks AA, Hingorani A, Hinney A, Hofman A, Hovingh KG, Hveem K, Illig T, Jarvelin MR, Jockel KH, Keinanen-Kiukaanniemi SM, Kiemeney LA, Kuh D, Laakso M, Lehtimaki T, Levinson DF, Martin NG, Metspalu A, Morris AD, Nieminen MS, Njolstad I, Ohlsson C, Oldehinkel AJ, Ouwehand WH, Palmer LJ, Penninx B, Power C, Province MA, Psaty BM, Qi L, Rauramaa R, Ridker PM, Ripatti S, Salomaa V, Samani NJ, Snieder H, Sorensen TI, Spector TD, Stefansson K, Tonjes A, Tuomilehto J, Uitterlinden AG, Uusitupa M, van der Harst P, Vollenweider P, Wallaschofski H, Wareham NJ, Watkins H, Wichmann HE, Wilson JF, Abecasis GR, Assimes TL, Barroso I, Boehnke M, Borecki IB, Deloukas P, Fox CS, Frayling T, Groop LC, Haritunian T, Heid IM, Hunter D, Kaplan RC, Karpe F, Moffatt MF, Mohlke KL, O'Connell JR, Pawitan Y, Schadt EE, Schlessinger D, Steinthorsdottir V, Strachan DP, Thorsteinsdottir U, van Duijn CM, Visscher PM, Di Blasio AM, Hirschhorn JN, Lindgren CM, Morris AP, Meyre D, Scherag A, McCarthy MI, Speliotes EK, North KE, Loos RJ and Ingelsson E. TITLE Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture JOURNAL Nat. Genet. 45 (5), 501-512 (2013) PUBMED 23563607 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC006028.3. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.275563.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..421 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7p22.3" Protein 1..421 /product="archaemetzincin-1 isoform 5" /note="archaemetzincin-1; metalloproteinase-like protein; archeobacterial metalloproteinase-like protein 1" /calculated_mol_wt=46093 CDS 1..421 /gene="AMZ1" /coded_by="NM_001384740.1:314..1579" /note="isoform 5 is encoded by transcript variant 5" /db_xref="GeneID:155185" /db_xref="HGNC:HGNC:22231" /db_xref="MIM:615168" ORIGIN 1 mlqcrpaqef sfgpralkda lvstdaalqq lyvsafspae rlflaeaynp qrtlfctlli 61 rtgfdwllsr peapedfqtf haslqhrkpr larkhiylqp idlseepvgs sllhqlcsct 121 eafflglrvk clpsvaaasi rcssrpsrds drlqlhtdgi lsflknnkpg dalcvlgltl 181 sdlypheaws ftfskflpgh evgvcsfarf sgefpksgps apdlalveaa adgpeaplqd 241 rgwalcfsal gmvqcckvtc helchllglg ncrwlrclmq galsldealr rpldlcpicl 301 rklqhvlgfr lieryqnvkv qrswpltlat lwppcpvcsl vavpvdtssp slahshplvt 361 avrpqeelhr vlgrgaastt vssgsagcvl gvcrvavtgv prrapkapap lpgfflyvfi 421 r // LOCUS NP_001355183 382 aa linear PRI 26-JUN-2020 DEFINITION killer cell immunoglobulin-like receptor 3DS1-like precursor [Homo sapiens]. ACCESSION NP_001355183 XP_024308382 VERSION NP_001355183.1 DBSOURCE REFSEQ: accession NM_001368254.1 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 KU645196.1. On Jan 30, 2019 this sequence version replaced XP_024308382.1. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..382 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19" Protein 1..382 /product="killer cell immunoglobulin-like receptor 3DS1-like precursor" /calculated_mol_wt=40454 sig_peptide 1..18 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2011 CDS 1..382 /gene="LOC112268355" /coded_by="NM_001368254.1:47..1195" /db_xref="GeneID:112268355" ORIGIN 1 mllmvvsmac vglflvqrag phmggqdkpf lsawpsavvp rgghvtlrch yrhrfnnfml 61 ykedrihvpi fhgrifqegf nmspvttaha gnytcrgshp hsptgwsaps npmvimvtgn 121 hrkpsllahp gplvksgerv ilqcwsdimf ehfflhkewi skdpsrlvgq ihdgvskanf 181 sigsmmrala gtyrcygsvt htpyqlsaps dpldivvtgl yekpslsaqp gpkvqagesv 241 tlscssrssy dmyhlsregg aherrlpavr kvnrtfqadf plgpathggt yrcfgsfrhs 301 pyewsdpsdp llvsvtgnps sswpspteps sksgnlrhlh iligtsvvki pftillffll 361 hrwcsnkkkc ccngpracre qk // LOCUS NP_001355179 492 aa linear PRI 26-JUN-2020 DEFINITION proline dehydrogenase 1, mitochondrial isoform 2 [Homo sapiens]. ACCESSION NP_001355179 XP_016885657 VERSION NP_001355179.1 DBSOURCE REFSEQ: accession NM_001368250.1 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 492) 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 AC007325.51. On Jan 31, 2019 this sequence version replaced XP_016885657.1. 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 :: SRR1803615.163528.1 [ECO:0000332] RNAseq introns :: mixed/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..492 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="22" /map="22" Protein 1..492 /product="proline dehydrogenase 1, mitochondrial isoform 2" /EC_number="1.5.5.2" /calculated_mol_wt=56096 CDS 1..492 /gene="LOC102724788" /coded_by="NM_001368250.1:176..1654" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:102724788" ORIGIN 1 mkmtfyghfv agedqesiqp llrhyrafgv saildygvee dlspeeaehk emesctsaae 61 rdgsgtnkrd kqyqahwafg drrngvisar tyfyaneakc dshmetflrc ieasgrvsdd 121 gfiaikltal grpqfllqfs evlakwrcff hqmaveqgqa glaamdtkle vavlqesvak 181 lgiasraeie dwftaetlgv sgtmdlldws slidsrtkls khlvvpnaqt gqlepllsrf 241 teeeelqmtr mlqrmdvlak katemgvrlm vdaeqtyfqp aisrltlemq rkfnvekpli 301 fntyqcylkd aydnvtldve larregwcfg aklvrgayla qeraraaeig yedpinptye 361 atnamyhrcl dyvleelkhn akakvmvash nedtvrfalr rmeelglhpa dhqvyfgqll 421 gmcdqisfpl gqagypvyky vpygpvmevl pylsrralen sslmkgthre rqllwlellr 481 rlrtgnlfhr pa // LOCUS NP_001355182 377 aa linear PRI 26-JUN-2020 DEFINITION killer cell immunoglobulin-like receptor 2DL4-like precursor [Homo sapiens]. ACCESSION NP_001355182 VERSION NP_001355182.1 DBSOURCE REFSEQ: accession NM_001368253.1 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 KU645196.1. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..377 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19" Protein 1..377 /product="killer cell immunoglobulin-like receptor 2DL4-like precursor" /calculated_mol_wt=38914 sig_peptide 1..23 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2530 CDS 1..377 /gene="LOC112268354" /coded_by="NM_001368253.1:117..1250" /db_xref="GeneID:112268354" ORIGIN 1 msmsptviil aclgffldqs vwahvggqdk pfcsawpsav vpqgghvtlr chcrrgfnif 61 tlykkdgvpv pelynrifwn sflispvtpa hagtyrcrgf hphsptewsa psnplvimvt 121 glyekpslta rpgptvrage nvtlscssqs sfdiyhlsre geahelrlpa vpsingtfqa 181 dfplgpathg etyrcfgsfh gspyewsdps dplpvsvtgn pssswpspte psfktgiarh 241 lhavirysva iilftilpff llhrwcskkk naavmnqepa ghrtvnreds deqdpqevty 301 aqldhciftq rkitgpsqrs krpstdtsvc ielpnaepra lspahehhsq almgssrett 361 alsqtqlass nvpaagi // LOCUS NP_001309398 1786 aa linear PRI 30-JUN-2020 DEFINITION mucin-22 isoform 3 precursor [Homo sapiens]. ACCESSION NP_001309398 VERSION NP_001309398.1 DBSOURCE REFSEQ: accession NM_001322469.1 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 1786) AUTHORS Chen JB, Zhang J, Hu HZ, Xue M and Jin YJ. TITLE Polymorphisms of TGFB1, TLE4 and MUC22 are associated with childhood asthma in Chinese population JOURNAL Allergol Immunopathol (Madr) 45 (5), 432-438 (2017) PUBMED 28262390 REMARK GeneRIF: Genes TGFB1, TLE4 and MUC22 are associated with the risk of childhood asthma in Chinese population. REFERENCE 2 (residues 1 to 1786) AUTHORS Hijikata M, Matsushita I, Tanaka G, Tsuchiya T, Ito H, Tokunaga K, Ohashi J, Homma S, Kobashi Y, Taguchi Y, Azuma A, Kudoh S and Keicho N. TITLE Molecular cloning of two novel mucin-like genes in the disease-susceptibility locus for diffuse panbronchiolitis JOURNAL Hum. Genet. 129 (2), 117-128 (2011) PUBMED 20981447 REMARK GeneRIF: The mucin-like gene PBMUCL1 is also one of the candidate genes of Diffuse panbronchiolitis susceptibility. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CR759964.5. Transcript Variant: This variant (3) represents an alternate allele located on the reference alternate locI, ALT_REF_LOCI_1 and ALT_REF_LOCI_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. FEATURES Location/Qualifiers source 1..1786 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p21.33" Protein 1..1786 /product="mucin-22 isoform 3 precursor" /note="panbronchiolitis-related mucin-like protein 1" /calculated_mol_wt=171451 sig_peptide 1..29 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3382 Region 1659..1775 /region_name="Epiglycanin_C" /note="Mucin, catalytic, TM and cytoplasmic tail region; pfam14654" /db_xref="CDD:291326" CDS 1..1786 /gene="MUC22" /gene_synonym="PBMUCL1" /coded_by="NM_001322469.1:176..5536" /note="isoform 3 precursor is encoded by transcript variant 3" /db_xref="GeneID:100507679" /db_xref="HGNC:HGNC:39755" /db_xref="MIM:613917" ORIGIN 1 mlemrrgnis pafwflwlll fgllgpssen ttaftkgsdt ttasitgset tmastmasts 61 alttgskitt dsttgsetts astmastaaf ttgsetntas ttdsgttias trtfttgsdt 121 ttvstagset ivasttvsgt tttftiastt vpettmasst tstagsektm assiisettm 181 asttgsetat vsttgsettt tstasseatk vsttgsettt astagsettt tstsmagsea 241 tttstadskv itassmsset tvapaagsnt ttasttgset ttilikaset ttastagset 301 ttpsptgsqt tivsisgsei tttstagsen ttvssagsgt ttasmagset tvstagsett 361 tvsitgtett mvsamgsett tnsttssett vtstagsett tvstvgsett taytadsett 421 aasttgsemt tvftagseti tpstagsett tvstagsett tvsttgsett tastahsett 481 aastmgsett kvstagsett vstagsetta astedsetnt aftedskttt asttgfetta 541 asttgseptm astmgsettm astigpettk vstassevtt vfaagsetir astvgsettt 601 vsttgsettt asimgsetst dsttgsettt astegsettt astegseatt vsttgsettt 661 vsitdsettt tctegsemta vsttvfettt astegseiti astsdsettt astegsettt 721 vttagsetkt ayttgsettt asntglettt vftigsdttt astegsetta vsatgsemtt 781 vstegsentt vsttgsettt vsttglettt tstegsemtt vsttgaettt dstegsgtta 841 astagsettt vstadsentt astadsetts asttgsettt asttssettt astegsettt 901 vsttdsettm vsttgserti tstegsettt vsatgsettv stegsgtttv sitgsettkv 961 sttgsetttt stegseitta sitgsettta stegsettta stegsettsa sttgsettta 1021 sttssettma simgsettma stigsettkv stasskmttv ftensettia sttasetttv 1081 stagsetipa stagsetttt tstegsettt astegsettt astessettt attigsettt 1141 astegsettt tstegsettt astegseitt vsttgsettt astegsettt astegseltt 1201 vsttgsetit vsaegsettt vttmgsettt astagsettt vstagsettt asiegsettt 1261 vsstgsettt vsttgtetti tstegsettt vttagsetta vyttgsettt tstegsettt 1321 vsttgsettt astadlettt vstsgsgttt astagsettt vyitgskttt astegseatt 1381 vsttssettt asttgsemtt vfttvsettt vstigseatt ssaagseatt tstegsettt 1441 astagsettt astagsettt astagsettt astsgsetnt acttgsetst pssagsetnt 1501 afiigsetti astaslepta tsltgsettt vsitasgata asttvssttf vltkatdvsi 1561 qpitntpmsg trttgtrlta sssvtmapgm dftasaasht vpgivlntsg lgtstmgass 1621 ttsahgvrtt tgstreptss tfqetgpvsm gtntvsmsht ptnvikpsgy lqpwaiilis 1681 laavvaavgl svglsfclrn lffplrycgi yyphghshsl gldlnlglgs gtfhslgnal 1741 vhggelemgh ggthgfgygv ghglshihgd gygvnhgghy ghgggh // LOCUS NP_001308821 1138 aa linear PRI 30-JUN-2020 DEFINITION nuclear pore complex-interacting protein family member B13 [Homo sapiens]. ACCESSION NP_001308821 VERSION NP_001308821.1 DBSOURCE REFSEQ: accession NM_001321892.1 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 1138) 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 REFERENCE 2 (residues 1 to 1138) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC106782.5, DB231720.1 and HY315435.1. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2142586, SAMEA2144333 [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..1138 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p11.2" Protein 1..1138 /product="nuclear pore complex-interacting protein family member B13" /note="nuclear pore complex interacting protein member; Putative NPIP-like protein LOC613037" /calculated_mol_wt=125833 Region <1..41 /region_name="AFD_class_I" /note="Adenylate forming domain, Class I superfamily; cl17068" /db_xref="CDD:302604" Region 41..302 /region_name="NPIP" /note="Nuclear pore complex interacting protein (NPIP); pfam06409" /db_xref="CDD:283949" Site 73..93 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NJU9.4)" Region <1031..1131 /region_name="PHA03250" /note="UL35; Provisional" /db_xref="CDD:165509" CDS 1..1138 /gene="NPIPB13" /coded_by="NM_001321892.1:194..3610" /db_xref="CCDS:CCDS81968.1" /db_xref="GeneID:613037" /db_xref="HGNC:HGNC:41989" 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 lslktppecv ltplppsadd nlktppecvl tplppsaddn 301 lktppecllt plppsaddnl ktppeclltp lppsaddnlk tppeclltpl ppsappsapp 361 saddnlktra ecllhplpps addnlktpse rqltplppsa ppsaddnikt paerlrgplp 421 psaddnlktp serqltplpp sappsaddni ktpaerlrgp lppsaddnlk tpserqltpl 481 ppsappsadd niktpaerlr gplppsaddn lktpserqlt plppsappsa ddniktpaer 541 lrgplppsad dnlktpserq ltplppsapp saddniktpa fhpqrmiisr hlpsvsslpf 601 hpqlhsqqmi isryllsvcg frfhhqpmii srhlpsvssl pfhpqlhpqq miisrhlpsv 661 cggrfhpqrm iisrhlpsvs slpfhpqlhp qqmiisrhlp svcggrfhpq rmiisrhlps 721 vsslpfhpql hpqqmiisrh lpsvcgerlr gplppsaddn lktpserqlt plppsappsa 781 ddniktpaer lrrplppsad dnlktpserq ltplppsapp saddniktpa erlrgplpps 841 addnlktpse rqltplppsa ppsaddnikt paerlrgplp psaddnlktp serqltplpp 901 sappsaddni ktpaerlrgp lppsaddnlk tpserqltpl ppsappsadd niktpaerlr 961 gplppsaddn lktpserqlt plppsappsa ddniktpaer lrgplppsad dnlktpplat 1021 qeaeaekprk pkrqraaeme pppepkrrrv gdvepsrkpk rrraadveps spkpkrrrvg 1081 dvepsrkpkr rraadvepss pepkrrrvgd vepsrkpkrr raadvepssp epkrrrls // LOCUS NP_001308162 1150 aa linear PRI 30-JUN-2020 DEFINITION RAD51-associated protein 2 isoform 2 [Homo sapiens]. ACCESSION NP_001308162 XP_005262682 VERSION NP_001308162.1 DBSOURCE REFSEQ: accession NM_001321233.1 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 1150) 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 1150) AUTHORS Kovalenko OV, Wiese C and Schild D. TITLE RAD51AP2, a novel vertebrate- and meiotic-specific protein, shares a conserved RAD51-interacting C-terminal domain with RAD51AP1/PIR51 JOURNAL Nucleic Acids Res. 34 (18), 5081-5092 (2006) PUBMED 16990250 REMARK GeneRIF: A novel protein, RAD51AP2, has been discovered that interacts with RAD51 through a C-terminal motif also present in RAD51AP1. REFERENCE 3 (residues 1 to 1150) 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 AK310498.1, AC104812.5 and BG216055.1. On Mar 18, 2016 this sequence version replaced XP_005262682.1. ##Evidence-Data-START## CDS exon combination :: AK310498.1, DQ860102.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1150 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2p24.2" Protein 1..1150 /product="RAD51-associated protein 2 isoform 2" /calculated_mol_wt=132768 Region 1100..1138 /region_name="RAD51_interact" /note="RAD51 interacting motif; pfam15696" /db_xref="CDD:317998" CDS 1..1150 /gene="RAD51AP2" /coded_by="NM_001321233.1:410..3862" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:729475" /db_xref="HGNC:HGNC:34417" ORIGIN 1 maelrkptss ltppedpdsq ppsskrlcle epggvfkagw rlplvprlse aekvwelspr 61 pfkgllvstn aifdnstdsc veksvsgkqi cnlkcsnlkf qmssclqspp sqspdsdlra 121 sgrseaglhd reafsvhrsn sskagvsqll pstsihdihg irnenrkqqf vqgrdnvhke 181 npfldvtfyk etkspfheik nrckansvvp snkrenniss svlkisksqn qpsleiakps 241 yfrdsgtisv pqfpmdlnsk mssvylkeia kkkndkkeay vrdftniyws qnrpdvkkqk 301 lqndkktvea enifskcyen dypslssqnt ckrkdlissn ycncssiqcn vrdsrknfai 361 lenanweeae cldsyvltrl eksqnwdcnv rhilrrnrgn cwiinncktk cenmkkteek 421 wnwlllleid llskedyhca kvinayeeqs kllvreilgs qtalittvwl ngkgendntl 481 qlrynttqkv fhvnnpfesf iieifyfhks isgnkkdnsi ltccnilkck kqigiigiqn 541 litrnmntni kngilsiylq dsvsepldil lktniaflln nfdsltrien dfeleeecif 601 kcmlylkypk nivenhtayl vkiltssrll ednmkpmlkk rklfrteqvf ekskkklins 661 fsmttqntgf pifetyekip llmdfddmde islireitcq nmscpqqvvn venwahynss 721 tvkahgnscp qfiqnnrgyi nenfyevnmh sqdlnmerkq ghnkisnfdc ehifedlcnv 781 rqqaipashn iihneethtt sitqvlnfwn llseieekky dlilkeevkv taesltnscq 841 vhkdtkieke ekdsffpmdd mfsvqsvsli skevnveenk yvnqnyvtnt neyesilper 901 eianskdfhr kndsalyinh qfetglsegn decfqdlaak ylstealtiv kdfemkrkfd 961 lvleelrmfh eisrenells tvetnngqen yfgendaekv kmeiekdlkm vvvnkirass 1021 sfhdtiagpn mgkshqslfk wktvpnngeq evpnescyps rseeellyst sekdcetplp 1081 krpaflpdec keefnyllrg gshfphgisr vrplktcsrp iriglsrkar ikqlhpylkq 1141 mcygnlkenf // LOCUS NP_848627 416 aa linear PRI 30-JUN-2020 DEFINITION E3 ubiquitin-protein ligase RNF180 isoform 2 [Homo sapiens]. ACCESSION NP_848627 VERSION NP_848627.1 DBSOURCE REFSEQ: accession NM_178532.4 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 416) AUTHORS Deng J, Guo J, Guo X, Hou Y, Xie X, Sun C, Zhang R, Yu X and Liang H. TITLE Mediation of the malignant biological characteristics of gastric cancer cells by the methylated CpG islands in RNF180 DNA promoter JOURNAL Oncotarget 7 (28), 43461-43474 (2016) PUBMED 27223257 REMARK GeneRIF: The methylated status of the key CpG islands of RNF180 DNA promoter may be used to predict the variations of the malignant biological characteristics of gastric cancer cells. REFERENCE 2 (residues 1 to 416) AUTHORS Han F, Sun LP, Liu S, Xu Q, Liang QY, Zhang Z, Cao HC, Yu J, Fan DM, Nie YZ, Wu KC and Yuan Y. TITLE Promoter methylation of RNF180 is associated with H.pylori infection and serves as a marker for gastric cancer and atrophic gastritis JOURNAL Oncotarget 7 (17), 24800-24809 (2016) PUBMED 27050149 REMARK GeneRIF: relationships between RNF180 promoter methylation and gastric cancer or atrophic gastritis, and the effects of Helicobactor pylori (H.pylori) infection on RNF180 promoter methylation REFERENCE 3 (residues 1 to 416) AUTHORS Deng J, Liang H, Zhang R, Hou Y, Liu Y, Ying G, Pan Y and Hao X. TITLE Clinical and experimental role of ring finger protein 180 on lymph node metastasis and survival in gastric cancer JOURNAL Br J Surg 103 (4), 407-416 (2016) PUBMED 26805552 REMARK GeneRIF: RNF180 is capable of inhibiting lymph node metastasis of gastric cancer by suppressing the intracellular activation of malignant molecular signals. REFERENCE 4 (residues 1 to 416) AUTHORS Xie XM, Deng JY, Hou YC, Cui JL, Wu WP, Ying GG, Dong QP, Hao XS and Liang H. TITLE Evaluating the clinical feasibility: The direct bisulfite genomic sequencing for examination of methylated status of E3 ubiquitin ligase RNF180 DNA promoter to predict the survival of gastric cancer JOURNAL Cancer Biomark 15 (3), 259-265 (2015) PUBMED 25769451 REMARK GeneRIF: hypermethylated CpG site count of E3 ubiquitin ligase Ring finger protein 180 promoter for evaluating the prognosis of gastric cancer was reasonable by using the direct bisulfite sequencing. REFERENCE 5 (residues 1 to 416) AUTHORS Deng J, Liang H, Ying G, Zhang R, Wang B, Yu J, Fan D and Hao X. TITLE Methylation of CpG sites in RNF180 DNA promoter prediction poor survival of gastric cancer JOURNAL Oncotarget 5 (10), 3173-3183 (2014) PUBMED 24833402 REMARK GeneRIF: We found that only few methylated CpG sites of RNF180 promoter was appropriate to predict the survival of gastric cancer REFERENCE 6 (residues 1 to 416) AUTHORS Cheung KF, Lam CN, Wu K, Ng EK, Chong WW, Cheng AS, To KF, Fan D, Sung JJ and Yu J. TITLE Characterization of the gene structure, functional significance, and clinical application of RNF180, a novel gene in gastric cancer JOURNAL Cancer 118 (4), 947-959 (2012) PUBMED 21717426 REMARK GeneRIF: RNF180 is a novel potential tumor suppressor in gastric carcinogenesis. REFERENCE 7 (residues 1 to 416) AUTHORS Asad S, Nikamo P, Gyllenberg A, Bennet H, Hansson O, Wierup N, Carlsson A, Forsander G, Ivarsson SA, Larsson H, Lernmark A, Lindblad B, Ludvigsson J, Marcus C, Ronningen KS, Nerup J, Pociot F, Luthman H, Fex M and Kockum I. CONSRTM Diabetes Incidence in Sweden Study Group TITLE HTR1A a novel type 1 diabetes susceptibility gene on chromosome 5p13-q13 JOURNAL PLoS ONE 7 (5), e35439 (2012) PUBMED 22563461 REMARK GeneRIF: Data indicate that the ring finger protein 180 (RNF180) and HTR1A showed association to T1D in the Swedish and Danish families. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA183707.1, BC101277.2, AK090756.1 and AC092360.2. Transcript Variant: This variant (2) lacks multiple 3' coding exons and differs in the 3' UTR, compared to variant 1. The resulting isoform (2) has a shorter, distinct C-terminus compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: AK090756.1, BC101277.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..416 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q12.3" Protein 1..416 /product="E3 ubiquitin-protein ligase RNF180 isoform 2" /EC_number="2.3.2.27" /note="E3 ubiquitin-protein ligase RNF180; RING-type E3 ubiquitin transferase RNF180" /calculated_mol_wt=47155 Site 230 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q3U827; propagated from UniProtKB/Swiss-Prot (Q86T96.2)" CDS 1..416 /gene="RNF180" /gene_synonym="RINES" /coded_by="NM_178532.4:112..1362" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS34169.1" /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 sgvglldhmv siylli // LOCUS NP_001305413 1776 aa linear PRI 30-JUN-2020 DEFINITION mucin-22 isoform 1 precursor [Homo sapiens]. ACCESSION NP_001305413 VERSION NP_001305413.1 DBSOURCE REFSEQ: accession NM_001318484.1 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 1776) AUTHORS Chen JB, Zhang J, Hu HZ, Xue M and Jin YJ. TITLE Polymorphisms of TGFB1, TLE4 and MUC22 are associated with childhood asthma in Chinese population JOURNAL Allergol Immunopathol (Madr) 45 (5), 432-438 (2017) PUBMED 28262390 REMARK GeneRIF: Genes TGFB1, TLE4 and MUC22 are associated with the risk of childhood asthma in Chinese population. REFERENCE 2 (residues 1 to 1776) AUTHORS Hijikata M, Matsushita I, Tanaka G, Tsuchiya T, Ito H, Tokunaga K, Ohashi J, Homma S, Kobashi Y, Taguchi Y, Azuma A, Kudoh S and Keicho N. TITLE Molecular cloning of two novel mucin-like genes in the disease-susceptibility locus for diffuse panbronchiolitis JOURNAL Hum. Genet. 129 (2), 117-128 (2011) PUBMED 20981447 REMARK GeneRIF: The mucin-like gene PBMUCL1 is also one of the candidate genes of Diffuse panbronchiolitis susceptibility. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB600272.1 and AL669830.9. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: AB600272.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1776 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p21.33" Protein 1..1776 /product="mucin-22 isoform 1 precursor" /note="panbronchiolitis-related mucin-like protein 1" /calculated_mol_wt=170488 sig_peptide 1..29 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3382 Region 1649..1765 /region_name="Epiglycanin_C" /note="Mucin, catalytic, TM and cytoplasmic tail region; pfam14654" /db_xref="CDD:291326" CDS 1..1776 /gene="MUC22" /gene_synonym="PBMUCL1" /coded_by="NM_001318484.1:176..5506" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="GeneID:100507679" /db_xref="HGNC:HGNC:39755" /db_xref="MIM:613917" ORIGIN 1 mlemrrgnis pafwflwlll fgllgpssen ttaftkgsdt ttasitgset tmastmasts 61 alttgskitt dsttgsetts astmastaaf ttgsetntas ttdsgttias trtfttgsdt 121 ttgstagset ivasttvsgt tttftiastt vpettmasst tstagsektm assiisettm 181 asttgsetat vsttgsettt tstasseatk vsttgsettt astagsettt tstsmagsea 241 tttstadskv itassmsset tvapaagsnt ttasttgset ttilikaset ttastagset 301 ttpsptgsqt tivsisgsei tttstagsen ttvssagsgt ttasmagset tvstagsett 361 tvsitgtett mvsamgsett tnsttssett vtstagsett tvstvgsett taytadsett 421 aasttgsemt tvftagseti tpstagsett tvstagsett tvsttgsett tastahsett 481 aastmgsett kvstagsett vstagsetta astedsetnt aftedskttt asttgfetta 541 asttgseptm astmgsettm astigpettk vstassevtt vfaagsetir astvgsettt 601 vsttgsettt asimgsetst dsttgsettt astegsettt astegseatt vsttgsettt 661 vsitdsettt tctegsemta vsttvfettt astegseiti astsdsettt astegsettt 721 vttagsetkt ayttgsettt asntglettt vftigsdttt astegsetta vsatgsemtt 781 vstegsentt vsttgsettt vsttglettt tstegsemtt vsttgaettt dstegsgtta 841 astagsettt vstadsentt astadsetts asttgsettt asttssettt astegsettt 901 vsttdsettm vsttgserti tstegsettt vsatgsettv stegsgtttv sitgsettkv 961 sttgsetttt stegseitta sitgsettta stegsettta stegsettsa sttgsettta 1021 sttssettma simgsettma stigsettkv stasskmttv ftensettia sttasetttv 1081 stagsetipa stagsetttt tstegsettt astegsettt astessettt attigsettt 1141 astegsettt tstegsettt astegseitt vsttgsettt astegsettt astegseltt 1201 vsttgsetit vsaegsettt vttmgsettt astagsettt vstagsettt asiegsettt 1261 vsstgsettt vsttgtetti tstegsettt vttagsetta vyttgsettt tstegsettt 1321 vsttgsettt astadlettt vstsgsgttt astagsettt vyitgskttt astegseatt 1381 vsttssettt asttgsemtt vfttvsettt vstigseatt ssaagseatt tstegsettt 1441 astagsettt astagsettt astsgsetnt acttgsetst pssagsetnt afiigsesti 1501 astaslepta tsltgsettt vsitasgata asttvssttf vltkatdvsi qpitntpmsg 1561 trttgtrlta sssvtmapgm dftasaasht vpgivlntsg lgtstmgass ttsahgvrtt 1621 tgstreptss tfqetgpvsm gtntvsmsht ptnvikpsgy lqpwaiilis laavvaavgl 1681 svglsfclrn lffplrycgi yyphghshsl gldlnlglgs gtfhslgnal vhggelemgh 1741 ggthgfgygv ghglshihgd gygvnhgghy ghgggh // LOCUS NP_001305156 174 aa linear PRI 30-JUN-2020 DEFINITION keratin-associated protein 9-9 isoform KRTAP9.9 [Homo sapiens]. ACCESSION NP_001305156 VERSION NP_001305156.1 DBSOURCE REFSEQ: accession NM_001318227.1 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 174) 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 REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AJ406951.1 and AC209539.6. Summary: This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. Alternative haplotypes of this gene are represented in the GRCh38 reference genome assembly. [provided by RefSeq, Dec 2015]. Transcript Variant: This variant (KRTAP9.9) represents the longer transcript and encodes the longer isoform (KRTAP9.9). It is produced from an alternate haplotype that is represented by the ALT_REF_LOCI_1 assembly unit of the GRCh38 reference genome assembly. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..174 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q21.2" Protein 1..174 /product="keratin-associated protein 9-9 isoform KRTAP9.9" /note="keratin-associated protein 9-5; keratin-associated protein 9.5; ultrahigh sulfur keratin-associated protein 9.9" /calculated_mol_wt=18145 Region 37..81 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 75..124 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" CDS 1..174 /gene="KRTAP9-9" /gene_synonym="KAP9.5; KAP9.9; KRTAP9-5; KRTAP9.9" /coded_by="NM_001318227.1:3..527" /note="isoform KRTAP9.9 is encoded by transcript variant KRTAP9.9" /db_xref="GeneID:81870" /db_xref="HGNC:HGNC:16773" ORIGIN 1 mthccspccq ptccrttccr ttcwkpttvt tcsstpccqp sccvssccqp ccrpaccqnt 61 ccrttccqpt cltsccqpsc csttccqpic cgssccgqts cgsscgqsss capvycrrtc 121 yypttvclpg clnqscgssc cqpccrpacc ettccrttcf qptcvssccq pscc // LOCUS NP_001338040 79 aa linear PRI 01-JUL-2020 DEFINITION protein FAM236C isoform 1 [Homo sapiens]. ACCESSION NP_001338040 VERSION NP_001338040.1 DBSOURCE REFSEQ: accession NM_001351111.1 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. 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 AC234776.4. 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 paralogous alignments. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000636267.1/ ENSP00000490543.1 RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..79 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq13.1" Protein 1..79 /product="protein FAM236C isoform 1" /note="protein FAM236C" /calculated_mol_wt=8551 CDS 1..79 /gene="FAM236C" /gene_synonym="FAM236D" /coded_by="NM_001351111.1:101..340" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS87763.1" /db_xref="GeneID:109729126" /db_xref="HGNC:HGNC:52641" ORIGIN 1 miftpflppa dlsvfqnvkg pqkdpeelva vsdtaedpss gtglprepal lrgswrsrfq 61 ralacfikcf rggyralgi // LOCUS NP_001337906 44 aa linear PRI 01-JUL-2020 DEFINITION putative keratin-associated protein 20-4 [Homo sapiens]. ACCESSION NP_001337906 VERSION NP_001337906.1 DBSOURCE REFSEQ: accession NM_001350977.1 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 Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R and Yaspo ML. CONSRTM Chromosome 21 mapping and sequencing consortium TITLE The DNA sequence of human chromosome 21 JOURNAL Nature 405 (6784), 311-319 (2000) PUBMED 10830953 REMARK Erratum:[Nature 2000 Sep 7;407(6800):110] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB096956.1. ##Evidence-Data-START## Transcript is intronless :: AB096956.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000382828.2/ ENSP00000372278.2 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="putative keratin-associated protein 20-4" /calculated_mol_wt=4492 CDS 1..44 /gene="KRTAP20-4" /gene_synonym="KAP20.4" /coded_by="NM_001350977.1:32..166" /db_xref="CCDS:CCDS86982.1" /db_xref="GeneID:100151643" /db_xref="HGNC:HGNC:34002" ORIGIN 1 msyyshlsgg lgcglavavt mgrtvavaey grcrhgchss ysar // LOCUS NP_001243796 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin specific peptidase 17 like family member 30 [Homo sapiens]. ACCESSION NP_001243796 XP_001130476 XP_003403824 VERSION NP_001243796.1 DBSOURCE REFSEQ: accession NM_001256867.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC116655.7. On or before Mar 3, 2012 this sequence version replaced XP_001130476.1, XP_003403824.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000504104.1/ ENSP00000422887.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin specific peptidase 17 like family member 30" /calculated_mol_wt=59580 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L30" /coded_by="NM_001256867.1:1..1593" /db_xref="CCDS:CCDS59471.1" /db_xref="GeneID:728419" /db_xref="HGNC:HGNC:44458" ORIGIN 1 meddslylrg 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 daevtassit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel 421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllnls sstpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_001005499 312 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 6C70 [Homo sapiens]. ACCESSION NP_001005499 VERSION NP_001005499.1 DBSOURCE REFSEQ: accession NM_001005499.1 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 Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and Mollon JD. TITLE Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia JOURNAL Genes Brain Behav. 13 (2), 144-151 (2014) PUBMED 24152035 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AC122685.9. 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]. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000327335.4/ ENSP00000329153.4 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="12" /map="12q13.2" Protein 1..312 /product="olfactory receptor 6C70" /calculated_mol_wt=35337 Site 3 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A6NIJ9.1)" Site 23..43 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NIJ9.1)" Region 34..303 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 39..288 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 64..84 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NIJ9.1)" Site 96..116 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NIJ9.1)" Site 142..162 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NIJ9.1)" Site 195..215 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NIJ9.1)" Site 238..258 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NIJ9.1)" Site 273..290 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NIJ9.1)" CDS 1..312 /gene="OR6C70" /coded_by="NM_001005499.1:1..939" /db_xref="CCDS:CCDS31825.1" /db_xref="GeneID:390327" /db_xref="HGNC:HGNC:31299" ORIGIN 1 mknhtrqief illgltdnsq lqiviflfll lncvlsmign ftiialilld sqlktpmyff 61 lrnfsfleis fttaciprfl itivtrekti scngcisqlf fyiflgvtef fllaalsydr 121 yvaickplry msimsnkvcy qlvfsswvtg fliiftplil glnldfcasn iidhficdis 181 lilqlscsdt hlleliafll avmtlivtlf lvilsysyii ktilkfpsaq qkkkafstcs 241 shmivvsity gscmfiyikp sanervalsk gvtvlntsva pllnpfiytl rnqqvkqafk 301 avfrkifsas dk // LOCUS NP_056977 87 aa linear PRI 01-JUL-2020 DEFINITION prolactin-releasing peptide precursor [Homo sapiens]. ACCESSION NP_056977 VERSION NP_056977.1 DBSOURCE REFSEQ: accession NM_015893.1 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 87) AUTHORS Holubova M, Hruba L, Neprasova B, Majercikova Z, Lacinova Z, Kunes J, Maletinska L and Zelezna B. TITLE Prolactin-releasing peptide improved leptin hypothalamic signaling in obese mice JOURNAL J. Mol. Endocrinol. 60 (2), 85-94 (2018) PUBMED 29233862 REMARK GeneRIF: This study demonstrates that palm(11)-PrRP31 positively affects feeding and leptin-related hypothalamic signaling. REFERENCE 2 (residues 1 to 87) AUTHORS Deluca SH, Rathmann D, Beck-Sickinger AG and Meiler J. TITLE The activity of prolactin releasing peptide correlates with its helicity JOURNAL Biopolymers 99 (5), 314-325 (2013) PUBMED 23426574 REMARK GeneRIF: Data indicate that formation of a primarily alpha-helical C-terminal region of prolactin releasing peptide (PrRP) is critical for receptor activation. REFERENCE 3 (residues 1 to 87) AUTHORS Lagerstrom MC, Fredriksson R, Bjarnadottir TK and Schioth HB. TITLE The ancestry of the prolactin-releasing hormone precursor JOURNAL Ann. N. Y. Acad. Sci. 1040, 368-370 (2005) PUBMED 15891064 REMARK GeneRIF: Review discusses the ancestral relationship between prolactin-releasing hormone and the C-terminal RF-motif amide precursor peptide (C-RF). Review article REFERENCE 4 (residues 1 to 87) AUTHORS Takahashi K, Totsune K, Murakami O, Sone M, Noshiro T, Hayashi Y, Sasano H and Shibahara S. TITLE Expression of prolactin-releasing peptide and its receptor in the human adrenal glands and tumor tissues of adrenocortical tumors, pheochromocytomas and neuroblastomas JOURNAL Peptides 23 (6), 1135-1140 (2002) PUBMED 12126742 REMARK GeneRIF: PrRP has a likely role in pheochromocytomas, based on its high expression in tumor tissue REFERENCE 5 (residues 1 to 87) AUTHORS Yasui Y, Yamaguchi M, Jikihara H, Yamamoto T, Kanzaki T and Murata Y. TITLE Expression of prolactin-releasing peptide in human placenta and decidua JOURNAL Endocr. J. 48 (3), 397-401 (2001) PUBMED 11523913 REFERENCE 6 (residues 1 to 87) AUTHORS Langmead CJ, Szekeres PG, Chambers JK, Ratcliffe SJ, Jones DN, Hirst WD, Price GW and Herdon HJ. TITLE Characterization of the binding of [(125)I]-human prolactin releasing peptide (PrRP) to GPR10, a novel G protein coupled receptor JOURNAL Br. J. Pharmacol. 131 (4), 683-688 (2000) PUBMED 11030716 REFERENCE 7 (residues 1 to 87) AUTHORS Zhang X, Danila DC, Katai M, Swearingen B and Klibanski A. TITLE Expression of prolactin-releasing peptide and its receptor messenger ribonucleic acid in normal human pituitary and pituitary adenomas JOURNAL J. Clin. Endocrinol. Metab. 84 (12), 4652-4655 (1999) PUBMED 10599733 REFERENCE 8 (residues 1 to 87) AUTHORS Fujii R, Fukusumi S, Hosoya M, Kawamata Y, Habata Y, Hinuma S, Sekiguchi M, Kitada C, Kurokawa T, Nishimura O, Onda H, Sumino Y and Fujino M. TITLE Tissue distribution of prolactin-releasing peptide (PrRP) and its receptor JOURNAL Regul. Pept. 83 (1), 1-10 (1999) PUBMED 10498338 REFERENCE 9 (residues 1 to 87) AUTHORS Hinuma S, Onda H and Fujino M. TITLE The quest for novel bioactive peptides utilizing orphan seven-transmembrane-domain receptors JOURNAL J. Mol. Med. 77 (6), 495-504 (1999) PUBMED 10475064 REMARK Review article REFERENCE 10 (residues 1 to 87) AUTHORS Hinuma S, Habata Y, Fujii R, Kawamata Y, Hosoya M, Fukusumi S, Kitada C, Masuo Y, Asano T, Matsumoto H, Sekiguchi M, Kurokawa T, Nishimura O, Onda H and Fujino M. TITLE A prolactin-releasing peptide in the brain JOURNAL Nature 393 (6682), 272-276 (1998) PUBMED 9607765 REMARK Erratum:[Nature 1998 Jul 16;394(6690):302] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB015419.1. ##Evidence-Data-START## Transcript exon combination :: BC069081.1, AB015419.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093, SAMEA2153980 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000165524.1/ ENSP00000165524.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..87 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q37.3" Protein 1..87 /product="prolactin-releasing peptide precursor" /note="preproprolactin-releasing peptide; prolactin-releasing peptide" /calculated_mol_wt=7244 sig_peptide 1..22 /note="/evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P81277.1)" /calculated_mol_wt=2413 mat_peptide 23..53 /product="Prolactin-releasing peptide PrRP31. /id=PRO_0000022144" /note="propagated from UniProtKB/Swiss-Prot (P81277.1)" /calculated_mol_wt=3665 Region 29..68 /region_name="Prolactin_RP" /note="Prolactin-releasing peptide; pfam15172" /db_xref="CDD:317574" mat_peptide 34..53 /product="Prolactin-releasing peptide PrRP20. /id=PRO_0000022145" /note="propagated from UniProtKB/Swiss-Prot (P81277.1)" /calculated_mol_wt=2274 Site 53 /site_type="amidation" /note="Phenylalanine amide. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P81277.1)" CDS 1..87 /gene="PRLH" /gene_synonym="PRH; PRRP" /coded_by="NM_015893.1:1..264" /db_xref="CCDS:CCDS2519.1" /db_xref="GeneID:51052" /db_xref="HGNC:HGNC:17945" /db_xref="MIM:602663" ORIGIN 1 mkvlrawllc llmlglalrg aasrthrhsm eirtpdinpa wyasrgirpv grfgrrratl 61 gdvpkpglrp rltcfplegg amssqdg // LOCUS NP_001229257 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin specific peptidase 17 like family member 26 [Homo sapiens]. ACCESSION NP_001229257 XP_001130428 XP_001721948 VERSION NP_001229257.1 DBSOURCE REFSEQ: accession NM_001242328.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC116655.7. On or before May 28, 2011 this sequence version replaced XP_001130428.1, XP_001721948.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000509660.1/ ENSP00000427366.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin specific peptidase 17 like family member 26" /calculated_mol_wt=59580 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L26" /coded_by="NM_001242328.1:1..1593" /db_xref="CCDS:CCDS59466.1" /db_xref="GeneID:728379" /db_xref="HGNC:HGNC:44454" ORIGIN 1 meddslylrg 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 daevtassit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel 421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllnls sstpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_001005226 313 aa linear PRI 01-JUL-2020 DEFINITION putative olfactory receptor 2B3 [Homo sapiens]. ACCESSION NP_001005226 XP_498068 VERSION NP_001005226.1 DBSOURCE REFSEQ: accession NM_001005226.2 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 St Pourcain B, Whitehouse AJ, Ang WQ, Warrington NM, Glessner JT, Wang K, Timpson NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding J, Hakonarson H, Pennell CE and Smith GD. TITLE Common variation contributes to the genetic architecture of social communication traits JOURNAL Mol Autism 4 (1), 34 (2013) PUBMED 24047820 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 313) 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) REFERENCE 3 (residues 1 to 313) AUTHORS Clamp M, Fry B, Kamal M, Xie X, Cuff J, Lin MF, Kellis M, Lindblad-Toh K and Lander ES. TITLE Distinguishing protein-coding and noncoding genes in the human genome JOURNAL Proc. Natl. Acad. Sci. U.S.A. 104 (49), 19428-19433 (2007) PUBMED 18040051 REFERENCE 4 (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 5 (residues 1 to 313) AUTHORS Volz A, Ehlers A, Younger R, Forbes S, Trowsdale J, Schnorr D, Beck S and Ziegler A. TITLE Complex transcription and splicing of odorant receptor genes JOURNAL J. Biol. Chem. 278 (22), 19691-19701 (2003) PUBMED 12637542 REFERENCE 6 (residues 1 to 313) 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 AJ459873.1 and BC136817.1. On Sep 23, 2004 this sequence version replaced XP_498068.1. 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 :: ENST00000377173.4/ ENSP00000366378.2 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="putative olfactory receptor 2B3" /note="olfactory receptor OR6-14; hs6M1-1; olfactory receptor 6-4" /calculated_mol_wt=35412 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O76000.1)" 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 (O76000.1)" Site 58..79 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O76000.1)" 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 (O76000.1)" 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 (O76000.1)" 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 (O76000.1)" 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 (O76000.1)" 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 (O76000.1)" CDS 1..313 /gene="OR2B3" /gene_synonym="6M1-1; OR2B3P; OR6-14; OR6-4" /coded_by="NM_001005226.2:66..1007" /db_xref="CCDS:CCDS34358.1" /db_xref="GeneID:442184" /db_xref="HGNC:HGNC:8238" ORIGIN 1 mnwenesspk efillgfsdr awlqmplfvv llisytitif gnvsimmvci ldpklhtpmy 61 ffltnlsild lcyttttvph mlvnigcnkk tisyagcvah liiflalgat eclllavmsf 121 dryvavcrpl hyvvimnywf clrmaafswl igfgnsvlqs sltlnmprcg hqevdhffce 181 vpallklsca dtkpieaelf ffsvlillip vtlilisygf iaqavlkirs aegrqkafgt 241 cgshmivvsl fygtaiymyl qppsstskdw gkmvslfygi itsmlnsliy slrnkdmkea 301 fkrlmpriff ckk // LOCUS NP_001032818 82 aa linear PRI 01-JUL-2020 DEFINITION beta-defensin 113 precursor [Homo sapiens]. ACCESSION NP_001032818 VERSION NP_001032818.1 DBSOURCE REFSEQ: accession NM_001037729.1 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 82) AUTHORS Patil AA, Cai Y, Sang Y, Blecha F and Zhang G. TITLE Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract JOURNAL Physiol. Genomics 23 (1), 5-17 (2005) PUBMED 16033865 REMARK GeneRIF: The encoded protein is thought to display antimicrobial activity. REFERENCE 2 (residues 1 to 82) 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] COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DQ012017.1. Summary: Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]. ##Evidence-Data-START## Transcript exon combination :: DQ012017.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000398718.1/ ENSP00000381703.1 Protein has antimicrobial activity :: PMID: 16033865 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..82 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p12.3" Protein 1..82 /product="beta-defensin 113 precursor" /note="defensin, beta 13; beta-defensin 113; beta-defensin 13" /calculated_mol_wt=7793 sig_peptide 1..16 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1865 mat_peptide 17..82 /product="beta-defensin 113" /experiment="DESCRIPTION:antimicrobial peptide[PMID: 16033865]" /calculated_mol_wt=7793 CDS 1..82 /gene="DEFB113" /gene_synonym="DEFB-13" /coded_by="NM_001037729.1:1..249" /db_xref="CCDS:CCDS43472.1" /db_xref="GeneID:245927" /db_xref="HGNC:HGNC:18094" ORIGIN 1 mkilcifltf vftvscgpsv pqkktrevae rkrecqlvrg ackpecnswe yvyyycnvnp 61 ccavweyqkp iinkitsklh qk // LOCUS NP_001028190 78 aa linear PRI 01-JUL-2020 DEFINITION beta-defensin 136 precursor [Homo sapiens]. ACCESSION NP_001028190 VERSION NP_001028190.2 DBSOURCE REFSEQ: accession NM_001033018.2 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 78) AUTHORS Patil AA, Cai Y, Sang Y, Blecha F and Zhang G. TITLE Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract JOURNAL Physiol. Genomics 23 (1), 5-17 (2005) PUBMED 16033865 REMARK GeneRIF: The protein encoded by this gene is thought to display antimicrobial activity. REFERENCE 2 (residues 1 to 78) 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] COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DQ012026.1. On Oct 21, 2006 this sequence version replaced NP_001028190.1. 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 8p23. [provided by RefSeq, Nov 2014]. ##Evidence-Data-START## Transcript exon combination :: DQ012026.1, AY621333.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000382209.2/ ENSP00000371644.2 Protein has antimicrobial activity :: PMID: 16033865 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..78 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="8" /map="8p23.1" Protein 1..78 /product="beta-defensin 136 precursor" /note="beta-defensin 137; beta-defensin 136" /calculated_mol_wt=6524 sig_peptide 1..21 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2250 mat_peptide 22..78 /product="beta-defensin 136" /experiment="DESCRIPTION:antimicrobial peptide[PMID: 16033865]" /calculated_mol_wt=6524 CDS 1..78 /gene="DEFB136" /gene_synonym="DEFB137" /coded_by="NM_001033018.2:1..237" /db_xref="CCDS:CCDS43709.1" /db_xref="GeneID:613210" /db_xref="HGNC:HGNC:34433" ORIGIN 1 mnlclsallf flvillpsgk gmfgndgvkv rtctsqkavc ffgcppgyrw iafchnilsc 61 cknmtrfqpp qakdpwvh // LOCUS NP_037523 866 aa linear PRI 01-JUL-2020 DEFINITION dimethylglycine dehydrogenase, mitochondrial precursor [Homo sapiens]. ACCESSION NP_037523 VERSION NP_037523.2 DBSOURCE REFSEQ: accession NM_013391.3 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 866) AUTHORS Wang P, Wu T, Schwender H, Wang H, Shi B, Wang ZQ, Yuan Y, Liu DJ, Wang MY, Li J, Zhou ZB, Zhu HP and Beaty TH. TITLE Evidence of interaction between genes in the folate/homocysteine metabolic pathway in controlling risk of non-syndromic oral cleft JOURNAL Oral Dis 24 (5), 820-828 (2018) PUBMED 29356306 REMARK GeneRIF: Our study suggested markers in BHMT/BHMT2 and DMGDH might affect the risk of NSCL/P through pairwise interaction. REFERENCE 2 (residues 1 to 866) AUTHORS Sookoian S, Puri P, Castano GO, Scian R, Mirshahi F, Sanyal AJ and Pirola CJ. TITLE Nonalcoholic steatohepatitis is associated with a state of betaine-insufficiency JOURNAL Liver Int. 37 (4), 611-619 (2017) PUBMED 27614103 REMARK GeneRIF: In nonalcoholic fatty liver disease patient, the missense variant p.Ser646Pro (rs1805074) in DMGDH gene was significantly associated with disease severity and circulating levels of dimethylglycine. REFERENCE 3 (residues 1 to 866) AUTHORS Augustin P, Hromic A, Pavkov-Keller T, Gruber K and Macheroux P. TITLE Structure and biochemical properties of recombinant human dimethylglycine dehydrogenase and comparison to the disease-related H109R variant JOURNAL FEBS J. 283 (19), 3587-3603 (2016) PUBMED 27486859 REMARK GeneRIF: The structure-based analysis provided new insights into the kinetic properties of dimethylglycine dehydrogenase in particular with respect to oxygen reactivity. REFERENCE 4 (residues 1 to 866) AUTHORS Mao J, Vanderlelie JJ, Perkins AV, Redman CW, Ahmadi KR and Rayman MP. TITLE Genetic polymorphisms that affect selenium status and response to selenium supplementation in United Kingdom pregnant women JOURNAL Am. J. Clin. Nutr. 103 (1), 100-106 (2016) PUBMED 26675765 REMARK GeneRIF: In agreement with previous studies, we show that the genetic variant rs921943 in DMGDH is significantly associated with selenium status in United Kingdom pregnant women. REFERENCE 5 (residues 1 to 866) AUTHORS Magnusson M, Wang TJ, Clish C, Engstrom G, Nilsson P, Gerszten RE and Melander O. TITLE Dimethylglycine Deficiency and the Development of Diabetes JOURNAL Diabetes 64 (8), 3010-3016 (2015) PUBMED 25795213 REMARK GeneRIF: Genetic variation of DMGDH was associated with higher plasma insulin, increased insulin resistance and increased risk of incident diabetes. REFERENCE 6 (residues 1 to 866) AUTHORS McAndrew RP, Vockley J and Kim JJ. TITLE Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R JOURNAL J. Inherit. Metab. Dis. 31 (6), 761-768 (2008) PUBMED 18937046 REMARK GeneRIF: analysis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R REFERENCE 7 (residues 1 to 866) 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 866) AUTHORS Binzak BA, Wevers RA, Moolenaar SH, Lee YM, Hwu WL, Poggi-Bach J, Engelke UF, Hoard HM, Vockley JG and Vockley J. TITLE Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency JOURNAL Am. J. Hum. Genet. 68 (4), 839-847 (2001) PUBMED 11231903 REFERENCE 9 (residues 1 to 866) AUTHORS Binzak BA, Vockley JG, Jenkins RB and Vockley J. TITLE Structure and analysis of the human dimethylglycine dehydrogenase gene JOURNAL Mol. Genet. Metab. 69 (3), 181-187 (2000) PUBMED 10767172 REFERENCE 10 (residues 1 to 866) AUTHORS Moolenaar SH, Poggi-Bach J, Engelke UF, Corstiaensen JM, Heerschap A, de Jong JG, Binzak BA, Vockley J and Wevers RA. TITLE Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study JOURNAL Clin. Chem. 45 (4), 459-464 (1999) PUBMED 10102904 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC008502.8, BP276968.1, AF111858.1, AK057641.1, CA397896.1 and AA676742.1. This sequence is a reference standard in the RefSeqGene project. On Nov 8, 2002 this sequence version replaced NP_037523.1. Summary: This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Transcript Variant: This variant (1) represents the longest transcript and encodes the supported 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 :: AK057641.1, AK314736.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000255189.8/ ENSP00000255189.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..866 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q14.1" Protein 1..866 /product="dimethylglycine dehydrogenase, mitochondrial precursor" /EC_number="1.5.8.4" /note="dimethylglycine dehydrogenase, mitochondrial" /calculated_mol_wt=96680 Region 44..>90 /region_name="NADB_Rossmann" /note="Rossmann-fold NAD(P)(+)-binding proteins; cl21454" /db_xref="CDD:304358" Region 47..435 /region_name="DadA" /note="Glycine/D-amino acid oxidase (deaminating) [Amino acid transport and metabolism]; COG0665" /db_xref="CDD:223737" Region 417..472 /region_name="FAO_M" /note="FAD dependent oxidoreductase central domain; pfam16350" /db_xref="CDD:292961" Region 464..857 /region_name="GcvT" /note="Glycine cleavage system T protein (aminomethyltransferase) [Amino acid transport and metabolism]; COG0404" /db_xref="CDD:223481" Region 482..745 /region_name="GCV_T" /note="Aminomethyltransferase folate-binding domain; pfam01571" /db_xref="CDD:279857" Region 753..845 /region_name="GCV_T_C" /note="Glycine cleavage T-protein C-terminal barrel domain; pfam08669" /db_xref="CDD:285832" CDS 1..866 /gene="DMGDH" /gene_synonym="DMGDHD; ME2GLYDH" /coded_by="NM_013391.3:55..2655" /db_xref="CCDS:CCDS4044.1" /db_xref="GeneID:29958" /db_xref="HGNC:HGNC:24475" /db_xref="MIM:605849" ORIGIN 1 mlrpgaqllr glllrscplq gspgrprsvc gregeekppl saetqwkdra etviigggcv 61 gvslayhlak agmkdvvlle kseltagstw haaglttyfh pginlkkihy dsiklyekle 121 eetgqvvgfh qpgsirlatt pvrvdefkyq mtrtgwhate qyliepekiq emfpllnmnk 181 vlaglynpgd ghidpysltm alaagarkcg allkypapvt slkarsdgtw dvetpqgsmr 241 anrivnaagf warevgkmig lehplipvqh qyvvtstise vkalkrelpv lrdlegsyyl 301 rqerdgllfg pyesqekmkv qdswvtngvp pgfgkelfes dldrimehik aamemvpvlk 361 kadiinvvng pityspdilp mvgphqgvrn ywvaigfgyg iihaggvgky lsdwilhgep 421 pfdlieldpn rygkwtttqy teakaresyg fnnivgypke erfagrptqr vsglyqrles 481 kcsmgfhagw eqphwfykpg qdtqyrpsfr rtnwfepvgs eykqvmqrva vtdlspfgkf 541 nikgqdsirl ldhlfanvip kvgftnishm ltpkgrvyae ltvshqspge fllitgsgse 601 lhdlrwieee avkggydvei knitdelgvl gvagpqarkv lqkltsedls ddvfkflqtk 661 slkvsnipvt airisytgel gwelyhrred svalydaimn agqeegidnf gtyamnalrl 721 ekafrawgle mncdtnplea gleyfvklnk padfigkqal kqikakglkr rlvcltlatd 781 dvdpegnesi wyngkvvgnt tsgsysysiq kslafayvpv qlsevgqqve vellgknypa 841 viiqeplvlt eptrnrlqkk ggkdkt // LOCUS NP_001230967 616 aa linear PRI 01-JUL-2020 DEFINITION zinc finger protein 726 isoform 1 [Homo sapiens]. ACCESSION NP_001230967 VERSION NP_001230967.1 DBSOURCE REFSEQ: accession NM_001244038.2 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 616) 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 2 (residues 1 to 616) AUTHORS Nielsen R, Bustamante C, Clark AG, Glanowski S, Sackton TB, Hubisz MJ, Fledel-Alon A, Tanenbaum DM, Civello D, White TJ, J Sninsky J, Adams MD and Cargill M. TITLE A scan for positively selected genes in the genomes of humans and chimpanzees JOURNAL PLoS Biol. 3 (6), e170 (2005) PUBMED 15869325 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CN359557.1 and AC011503.4. 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 paralogous alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1163657.172941.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000594466.6/ ENSP00000471516.1 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..616 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p12" Protein 1..616 /product="zinc finger protein 726 isoform 1" /note="zinc finger protein 92 pseudogene 3" /calculated_mol_wt=71228 Region 4..64 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 4..43 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" Region 145..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" Site order(175,178,191,195) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 186..612 /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" Site order(203,206,219,223) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 231..251 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(231,234,247,251) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 243..268 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 259..279 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(259,262,275,279) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 272..296 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 287..307 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(287,290,303,307) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 299..323 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 315..335 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(315,318,331,335) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 328..352 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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 355..378 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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" Site order(376,378,380,382..383,386..387,390,404,406,410..411, 414..415,418,432,434,436,438..439,442..443,446) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 384..408 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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" Region 411..434 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 427..447 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(427,430,443,447) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 439..464 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 455..475 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(455,458,471,475) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 467..492 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 483..503 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(483,486,499,503) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 496..518 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 511..531 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(511,514,527,531) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 524..548 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 539..559 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(539,542,555,559) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(544,546,548,550..551,554..555,558,572,574,578..579, 582..583,586,600,602,604,606..607,610..611,614) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 551..576 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 567..587 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(567,570,583,587) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 579..602 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 595..615 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(595,598,611,615) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..616 /gene="ZNF726" /gene_synonym="ZNF92P3" /coded_by="NM_001244038.2:110..1960" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS59372.1" /db_xref="GeneID:730087" /db_xref="HGNC:HGNC:32462" ORIGIN 1 mglltfrdva iefsleewqc ldtaqknlyr nvmlenyrnl aflgiavskp dliiclekek 61 epwnmkrdem vdeppgicph faqdiwpeqg vedsfqkvil rrfekcghen lqlrkgcksv 121 deckvhkegy nglnqcfttt qgkasqcgky lkvfykfinl nrykirhtrk kpfkckncvk 181 sfcmfshktq hksiytteks ykckecgktf nwsstltnhk kthteekpyk ceeygkafnq 241 ssnytthkvt htgekpykce ecgkafsqss tltihkriht gekpckceec gkafsqpsal 301 tihkrmhige kpykceecgk afvwsstltr hkrlhsgekp ykceecakaf sqfghltthr 361 iihtgekpyk ceecgkafiw pstltkhkri htgekpykce ecgkafhrss nltkhkiiht 421 gekpykceec gkafiwssnl tehkkihtre kpykceecsk afsrssaltt hkrmhtgekp 481 ykceecgkaf sqsstltahk iihtgekpyk ceecgkafil sstlskhkri htgekpykce 541 ecgktfnqss nlsthkiiht gekpykceec gkafnrssnl sthkiihtge kpykcdecgk 601 sfiwsstlfk hkriht // LOCUS NP_001071179 207 aa linear PRI 01-JUL-2020 DEFINITION keratin-associated protein 27-1 [Homo sapiens]. ACCESSION NP_001071179 XP_932186 XP_946071 VERSION NP_001071179.1 DBSOURCE REFSEQ: accession NM_001077711.1 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. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB096937.1. On or before Nov 23, 2006 this sequence version replaced XP_932186.1, XP_946071.1. ##Evidence-Data-START## Transcript is intronless :: AB096937.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000382835.2/ ENSP00000372286.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..207 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21q22.11" Protein 1..207 /product="keratin-associated protein 27-1" /calculated_mol_wt=22214 Region 1..197 /region_name="PMG" /note="PMG protein; pfam05287" /db_xref="CDD:283053" CDS 1..207 /gene="KRTAP27-1" /coded_by="NM_001077711.1:27..650" /db_xref="CCDS:CCDS33532.1" /db_xref="GeneID:643812" /db_xref="HGNC:HGNC:33864" ORIGIN 1 mphshchslr sfhnapplsa ithgtnpitf edrlclpssf hsrtcfldnf qetcnettsc 61 qmtnceqdlf tddscvqsnc fpgvvqttys nsrpcertac qsesssagla cvsqpcqses 121 tqqmgfvaqs cqpaslkgns cppktskskn fetlerassq cqcqsqnpes sscrplvnva 181 pepqllessp gveptccvtg gsqlpsk // LOCUS NP_941972 245 aa linear PRI 01-JUL-2020 DEFINITION keratin-associated protein 10-12 [Homo sapiens]. ACCESSION NP_941972 VERSION NP_941972.1 DBSOURCE REFSEQ: accession NM_198699.1 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 245) AUTHORS Shibuya K, Obayashi I, Asakawa S, Minoshima S, Kudoh J and Shimizu N. TITLE A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3 JOURNAL Genomics 83 (4), 679-693 (2004) PUBMED 15028290 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB076364.1. ##Evidence-Data-START## Transcript is intronless :: AB076364.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000400365.3/ ENSP00000383216.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..245 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21q22.3" Protein 1..245 /product="keratin-associated protein 10-12" /note="keratin-associated protein 18-12; high sulfur keratin-associated protein 10.12" /calculated_mol_wt=24977 Region 32..74 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 36..218 /region_name="19 X 5 AA repeats of C-C-X(3)" /note="propagated from UniProtKB/Swiss-Prot (P60413.1)" Region 83..245 /region_name="Keratin_B2" /note="Keratin, high sulfur B2 protein; pfam01500" /db_xref="CDD:279797" Region 84..127 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 141..192 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 173..224 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" CDS 1..245 /gene="KRTAP10-12" /gene_synonym="KAP10.12; KRTAP18-12; KRTAP18.12" /coded_by="NM_198699.1:31..768" /db_xref="CCDS:CCDS42967.1" /db_xref="GeneID:386685" /db_xref="HGNC:HGNC:20533" ORIGIN 1 msvcssdlsy gsrvclpgsc dscsdswqvd dcpesccepp ccapapclsl vctpvsrvss 61 pccrvtceps pcqsgctssc tpsccqqssc qpacctsspc qqaccvpvcc ktvcckpvcc 121 mpvccgpsss ccqqsscqpa ccisspcqqs ccvpvcckpi ccvpvcsgas slccqqsscq 181 paccttsccr psssvsllcr pvcrparrvp vpsccvptss cqpscgrlas cgsllcrptc 241 srlac // LOCUS NP_001128129 262 aa linear PRI 01-JUL-2020 DEFINITION proline-rich protein 23C [Homo sapiens]. ACCESSION NP_001128129 VERSION NP_001128129.1 DBSOURCE REFSEQ: accession NM_001134657.1 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 262) 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 AC069525.16. 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. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000413199.1/ ENSP00000396648.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..262 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q23" Protein 1..262 /product="proline-rich protein 23C" /note="proline-rich protein 23A" /calculated_mol_wt=27674 Region 2..259 /region_name="DUF2476" /note="Protein of unknown function (DUF2476); pfam10630" /db_xref="CDD:287585" CDS 1..262 /gene="PRR23C" /coded_by="NM_001134657.1:273..1061" /db_xref="CCDS:CCDS46924.1" /db_xref="GeneID:389152" /db_xref="HGNC:HGNC:37173" ORIGIN 1 mgsrpcspsa clapwwgqqp ggpgpakrsr leepagpesr aapspedpag tpavdaltsm 61 vvldagcalr vpledvdlvl elapmsvlrv slgghtlivi pevllssvde csgaqgdwsa 121 glevdvflga hgedvvveqe vcasvpeiaa eeeayeedad sefpelwmds aagsaaglyp 181 sarsmfspyr egpirgpcal apnpsserrs prpifdlefh llepvpsspl qplppspspg 241 pharpelper ppckvrrrlf qe // LOCUS NP_001107210 177 aa linear PRI 01-JUL-2020 DEFINITION ADP-ribosylation factor-like 17-like isoform a [Homo sapiens]. ACCESSION NP_001107210 VERSION NP_001107210.1 DBSOURCE REFSEQ: accession NM_001113738.2 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 177) 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 AC138645.3 and AB209344.1. Transcript Variant: This variant (1) encodes the longest isoform (a). 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 transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AB209344.1, BX647266.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000336125.6/ ENSP00000337478.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..177 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q21.31" Protein 1..177 /product="ADP-ribosylation factor-like 17-like isoform a" /note="ADP-ribosylation factor 7; ADP-ribosylation factor-like 17-like" /calculated_mol_wt=19256 Region 1..>87 /region_name="P-loop_NTPase" /note="P-loop containing Nucleoside Triphosphate Hydrolases; cl21455" /db_xref="CDD:304359" Region 13..>88 /region_name="Gem1" /note="GTPase SAR1 family domain [General function prediction only]; COG1100" /db_xref="CDD:224025" Site 24..31 /site_type="other" /note="G1 box" /db_xref="CDD:206648" Site 48 /site_type="other" /note="G2 box" /db_xref="CDD:206648" Site 52..54 /site_type="other" /note="Switch I region" /db_xref="CDD:206648" Site 67..70 /site_type="other" /note="G3 box" /db_xref="CDD:206648" Site order(69..70,86..87) /site_type="other" /note="Switch II region" /db_xref="CDD:206648" Region 115..176 /region_name="ARL17" /note="ADP-ribosylation factor-like protein 17; pfam15840" /db_xref="CDD:292468" CDS 1..177 /gene="ARL17A" /gene_synonym="ARF1P2; ARL17P1" /coded_by="NM_001113738.2:109..642" /note="isoform a is encoded by transcript variant 1" /db_xref="CCDS:CCDS45718.1" /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 wksavvk // LOCUS NP_005963 375 aa linear PRI 01-JUL-2020 DEFINITION neuropeptide Y receptor type 4 [Homo sapiens]. ACCESSION NP_005963 XP_001129329 VERSION NP_005963.4 DBSOURCE REFSEQ: accession NM_005972.6 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 375) AUTHORS Shebanits K, Andersson-Assarsson JC, Larsson I, Carlsson LMS, Feuk L and Larhammar D. TITLE Copy number of pancreatic polypeptide receptor gene NPY4R correlates with body mass index and waist circumference JOURNAL PLoS ONE 13 (4), e0194668 (2018) PUBMED 29621259 REMARK GeneRIF: Our results suggest that NPY4R genetic variation influences body weight in women, but the exact role of this receptor appears to be more complex than previously proposed. Publication Status: Online-Only REFERENCE 2 (residues 1 to 375) AUTHORS Wanka L, Babilon S, Burkert K, Morl K, Gurevich VV and Beck-Sickinger AG. TITLE C-terminal motif of human neuropeptide Y4 receptor determines internalization and arrestin recruitment JOURNAL Cell. Signal. 29, 233-239 (2017) PUBMED 27818291 REMARK GeneRIF: the internalization motif for the human neuropeptide Y4 receptor, which regulates arrestin-3 recruitment and receptor endocytosis, was identified. REFERENCE 3 (residues 1 to 375) AUTHORS Aerts E, Beckers S, Zegers D, Van Hoorenbeeck K, Massa G, Verrijken A, Verhulst SL, Van Gaal LF and Van Hul W. TITLE CNV analysis and mutation screening indicate an important role for the NPY4R gene in human obesity JOURNAL Obesity (Silver Spring) 24 (4), 970-976 (2016) PUBMED 26921218 REMARK GeneRIF: A copy number variation (CNV) analysis demonstrated a significantly higher frequency of NPY4R containing 10q11.22 CNV loss in the patient population, while CNV gain in this region was more prevalent in the control population. Mutation analysis resulted in the identification of 15 rare non-synonymous heterozygous variants. Two variants in the patient population demonstrated receptor dysfunction and a pathogenic effect. REFERENCE 4 (residues 1 to 375) AUTHORS Wang Z, Ma B, Li H, Xiao X, Zhou W, Liu F, Zhang B, Zhu M, Yang Q, Zeng Y, Sun Y, Sun S, Wang Y, Zhang Y, Weng H, Chen L, Ye M, An X and Liu J. TITLE Protein 4.1N acts as a potential tumor suppressor linking PP1 to JNK-c-Jun pathway regulation in NSCLC JOURNAL Oncotarget 7 (1), 509-523 (2016) PUBMED 26575790 REMARK GeneRIF: Data suggest that repression of JNK-c-Jun signaling through pancreatic polypeptide receptor 1 (PP1) is one of the key anti-tumor mechanisms of neuronal membrane cytoskeletal protein 4.1 (4.1N). Erratum:[Oncotarget. 2019 Oct 22;10(58):6285. PMID: 31692885] REFERENCE 5 (residues 1 to 375) AUTHORS Aragon F, Karaca M, Novials A, Maldonado R, Maechler P and Rubi B. TITLE Pancreatic polypeptide regulates glucagon release through PPYR1 receptors expressed in mouse and human alpha-cells JOURNAL Biochim. Biophys. Acta 1850 (2), 343-351 (2015) PUBMED 25445712 REMARK GeneRIF: These data demonstrate glucose-regulated secretion of PP and its effects on glucagon release through PPYR1 receptors expressed by alpha-cells. REFERENCE 6 (residues 1 to 375) AUTHORS Lutz CM, Richards JE, Scott KL, Sinha S, Yang-Feng TL, Frankel WN and Thompson DA. TITLE Neuropeptide Y receptor genes mapped in human and mouse: receptors with high affinity for pancreatic polypeptide are not clustered with receptors specific for neuropeptide Y and peptide YY JOURNAL Genomics 46 (2), 287-290 (1997) PUBMED 9417917 REFERENCE 7 (residues 1 to 375) AUTHORS Yan H, Yang J, Marasco J, Yamaguchi K, Brenner S, Collins F and Karbon W. TITLE Cloning and functional expression of cDNAs encoding human and rat pancreatic polypeptide receptors JOURNAL Proc. Natl. Acad. Sci. U.S.A. 93 (10), 4661-4665 (1996) PUBMED 8643460 REFERENCE 8 (residues 1 to 375) AUTHORS Lundell I, Blomqvist AG, Berglund MM, Schober DA, Johnson D, Statnick MA, Gadski RA, Gehlert DR and Larhammar D. TITLE Cloning of a human receptor of the NPY receptor family with high affinity for pancreatic polypeptide and peptide YY JOURNAL J. Biol. Chem. 270 (49), 29123-29128 (1995) PUBMED 7493937 REFERENCE 9 (residues 1 to 375) AUTHORS Bard JA, Walker MW, Branchek TA and Weinshank RL. TITLE Cloning and functional expression of a human Y4 subtype receptor for pancreatic polypeptide, neuropeptide Y, and peptide YY JOURNAL J. Biol. Chem. 270 (45), 26762-26765 (1995) PUBMED 7592911 REFERENCE 10 (residues 1 to 375) 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 AC244230.3. On Jul 16, 2013 this sequence version replaced NP_005963.3. Transcript Variant: This variant (1) represents the longer transcript. Both 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 :: AY649985.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000374312.5/ ENSP00000363431.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..375 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10q11.22" Protein 1..375 /product="neuropeptide Y receptor type 4" /note="pancreatic polypeptide receptor 1" /calculated_mol_wt=42011 Region 58..322 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" CDS 1..375 /gene="NPY4R" /gene_synonym="NPY4-R; PP1; PPYR1; Y4" /coded_by="NM_005972.6:497..1624" /db_xref="CCDS:CCDS73100.1" /db_xref="GeneID:5540" /db_xref="HGNC:HGNC:9329" /db_xref="MIM:601790" ORIGIN 1 mntshllall lpkspqgenr skplgtpynf sehcqdsvdv mvfivtsysi etvvgvlgnl 61 clmcvtvrqk ekanvtnlli anlafsdflm cllcqpltav ytimdywifg etlckmsafi 121 qcmsvtvsil slvlvalerh qliinptgwk psisqaylgi vliwviacvl slpflansil 181 envfhknhsk alefladkvv cteswplahh rtiyttflll fqyclplgfi lvcyariyrc 241 lqrqgrvfhk gtyslraghm kqvnvvlvvm vvafavlwlp lhvfnsledw hheaipichg 301 nliflvchll amastcvnpf iygflntnfk keikalvltc qqsapleese hlplstvhte 361 vskgslrlsg rsnpi // LOCUS NP_001138496 207 aa linear PRI 01-JUL-2020 DEFINITION placenta-expressed transcript 1 protein precursor [Homo sapiens]. ACCESSION NP_001138496 XP_001718678 XP_932628 XP_943223 VERSION NP_001138496.1 DBSOURCE REFSEQ: accession NM_001145024.1 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 207) AUTHORS Depreter MG, Blair NF, Gaskell TL, Nowell CS, Davern K, Pagliocca A, Stenhouse FH, Farley AM, Fraser A, Vrana J, Robertson K, Morahan G, Tomlinson SR and Blackburn CC. TITLE Identification of Plet-1 as a specific marker of early thymic epithelial progenitor cells JOURNAL Proc. Natl. Acad. Sci. U.S.A. 105 (3), 961-966 (2008) PUBMED 18195351 REMARK GeneRIF: Plet-1 will thus provide an invaluable tool for genetic analysis of the lineage relationships and molecular mechanisms operating in the development, homeostasis, and injury in several organ/tissue systems REFERENCE 2 (residues 1 to 207) AUTHORS Zhao SH, Simmons DG, Cross JC, Scheetz TE, Casavant TL, Soares MB and Tuggle CK. TITLE PLET1 (C11orf34), a highly expressed and processed novel gene in pig and mouse placenta, is transcribed but poorly spliced in human JOURNAL Genomics 84 (1), 114-125 (2004) PUBMED 15203209 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AY364435.1, AY364431.1 and AP002884.5. On or before Feb 6, 2009 this sequence version replaced XP_943223.1, XP_932628.1, XP_001718678.1. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000338832.4/ ENSP00000341412.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..207 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11q23.1" Protein 1..207 /product="placenta-expressed transcript 1 protein precursor" /note="placenta-expressed transcript 1 protein" /calculated_mol_wt=20637 sig_peptide 1..25 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2766 Site 67 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UQ28.2)" Site 122 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UQ28.2)" CDS 1..207 /gene="PLET1" /gene_synonym="C11orf34" /coded_by="NM_001145024.1:272..895" /db_xref="CCDS:CCDS44732.1" /db_xref="GeneID:349633" /db_xref="HGNC:HGNC:30053" /db_xref="MIM:611904" ORIGIN 1 mavfhdmllq plgmflclsl qlssatfiry sstcftfdey ytitldikas shiyesnavy 61 svfvpvndsv yavvmktlde nsdsaglwqr adkncysnst yyvkdqymtv leaqwqapep 121 eniteveiqa ftvqiralpi lstlklrekl stlalaakip qssafkpffm itpksirleg 181 lanqvfsspi teaiyillaf ltstllf // LOCUS NP_001152751 495 aa linear PRI 01-JUL-2020 DEFINITION zinc finger protein 716 [Homo sapiens]. ACCESSION NP_001152751 XP_001714706 XP_001714722 XP_001719254 XP_943217 VERSION NP_001152751.1 DBSOURCE REFSEQ: accession NM_001159279.1 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 495) AUTHORS Simino J, Sung YJ, Kume R, Schwander K and Rao DC. TITLE Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9 JOURNAL Front Genet 4, 277 (2013) PUBMED 24376456 REMARK Publication Status: Online-Only COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK131575.1 and AC092175.5. On or before Apr 14, 2009 this sequence version replaced XP_001714706.1, XP_001714722.1, XP_943217.3, XP_001719254.1. 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 :: AK131575.1, DB064525.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000420713.2/ ENSP00000394248.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..495 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7p11.2" Protein 1..495 /product="zinc finger protein 716" /calculated_mol_wt=56875 Region 16..76 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 16..55 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" Region 160..179 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 187..207 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(187,190,203,207) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 211..>494 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 215..235 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(215,218,231,235) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 228..251 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 243..263 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(243,246,259,263) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 283..307 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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" 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:290200" Region 326..346 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(326,329,342,346) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 353..>398 /region_name="CpXC" /note="CpXC protein; pfam14353" /db_xref="CDD:291051" Region 354..374 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(354,357,370,374) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 382..402 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(382,385,398,402) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 398..419 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 410..430 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(410,413,426,430) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 423..446 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 438..458 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(438,441,454,458) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 451..474 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 466..486 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(466,469,482,486) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..495 /gene="ZNF716" /coded_by="NM_001159279.1:113..1600" /db_xref="CCDS:CCDS55112.1" /db_xref="GeneID:441234" /db_xref="HGNC:HGNC:32458" ORIGIN 1 makrpgppgs remglltfrd iaiefslaew qcldhaqqnl yrdvmlenyr nlvslgiavs 61 kpdlitcleq nkepqnikrn emvakhpvtc shftqdlqse qgikdslqkv ilrrygkcgq 121 edlqvkkcck svgecevhkg gynyvnqcls atqnktfqth kcvkvfgkfs nsnrhktrht 181 gkkhfkcknd gksfcmlsrl nqhqiihtre ksykceecgk sfncsstltr hkrihtgekp 241 yrceecgkaf swsasltkhk rihtgekpyt ceergkvfsr stltnykrih tgekpytcee 301 cgkafsrsst ltnhkrihtg erpykceecg kafslsstlk khkivhtgek lytceecgka 361 ftfsstlnth krihtgekpy tceecgkafs lpstftyhkr thtgekpykc eecgkafncs 421 stlkkhkiih tgeklykcke cgkaftfsst lnthkrihtg ekpykceecd qtfkwhssla 481 nhknmhtgek pykye // LOCUS NP_001342448 59 aa linear PRI 01-JUL-2020 DEFINITION uncharacterized protein LOC100129515 [Homo sapiens]. ACCESSION NP_001342448 VERSION NP_001342448.1 DBSOURCE REFSEQ: accession NM_001355519.1 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. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BX106414.1, AY730280.1 and AI015085.1. ##Evidence-Data-START## Transcript exon combination :: AY730280.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000423661.1/ ENSP00000490943.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..59 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq26.3" Protein 1..59 /product="uncharacterized protein LOC100129515" /note="long intergenic non-protein coding RNA 633" /calculated_mol_wt=6860 CDS 1..59 /gene="ETDB" /gene_synonym="ETDA; LINC00633" /coded_by="NM_001355519.1:375..554" /db_xref="CCDS:CCDS87781.1" /db_xref="GeneID:100129515" /db_xref="HGNC:HGNC:44269" ORIGIN 1 mdkevpkgsp repalnikks dksfkrkkpt envliflinr qlgrhrsdid lsrwvwmls // LOCUS NP_001005466 310 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 10G2 [Homo sapiens]. ACCESSION NP_001005466 VERSION NP_001005466.2 DBSOURCE REFSEQ: accession NM_001005466.2 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 310) AUTHORS Lin CW, Chang YL, Chang YC, Lin JC, Chen CC, Pan SH, Wu CT, Chen HY, Yang SC, Hong TM and Yang PC. TITLE MicroRNA-135b promotes lung cancer metastasis by regulating multiple targets in the Hippo pathway and LZTS1 JOURNAL Nat Commun 4, 1877 (2013) PUBMED 23695671 REMARK GeneRIF: Expression of miR-135b, LZTS1, LATS2 and nuclear TAZ predicts poor outcomes of non-small-cell lung cancer. REFERENCE 2 (residues 1 to 310) 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 310) AUTHORS Koop BF, Rowen L, Wang K, Kuo CL, Seto D, Lenstra JA, Howard S, Shan W, Deshpande P and Hood L. TITLE The human T-cell receptor TCRAC/TCRDC (C alpha/C delta) region: organization, sequence, and evolution of 97.6 kb of DNA JOURNAL Genomics 19 (3), 478-493 (1994) PUBMED 8188290 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC243972.3. On Apr 16, 2014 this sequence version replaced NP_001005466.1. 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. ##Evidence-Data-START## Transcript is intronless :: BC137371.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000542433.1/ ENSP00000445383.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..310 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="14" /map="14q11.2" Protein 1..310 /product="olfactory receptor 10G2" /note="olfactory receptor OR14-41 pseudogene" /calculated_mol_wt=34166 Site 6 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGC3.1)" Site 30..50 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGC3.1)" Region 35..307 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Site 59..80 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGC3.1)" Site 105..125 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGC3.1)" Site 145..165 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGC3.1)" Site 203..222 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGC3.1)" Site 243..263 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGC3.1)" Site 275..295 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGC3.1)" CDS 1..310 /gene="OR10G2" /gene_synonym="OR14-41" /coded_by="NM_001005466.2:99..1031" /db_xref="CCDS:CCDS32047.1" /db_xref="GeneID:26534" /db_xref="HGNC:HGNC:8170" ORIGIN 1 mgktkntsld avvtdfillg lshppnlrsl lflvffiiyi ltqlgnllil ltmwadpklc 61 arpmyillgv lsfldmwlss vtvpllildf tpsikaipfg gcvaqlyffh flgstqcfly 121 tlmaydryla icqplrypvl mngrlctvlv agawvagsmh gsiqatltfr lpycgpnqvd 181 yficdipavl rlacadttvn elvtfvdvgv vaascfmlil lsyanivnai lkirttdgrr 241 rafstcgshl ivvtvyyvpc ifiylragsk dpldgaaavf ytvvtpllnp liytlrnqev 301 ksalkritag // LOCUS NP_075390 474 aa linear PRI 01-JUL-2020 DEFINITION PRAME family member 2 [Homo sapiens]. ACCESSION NP_075390 XP_943477 VERSION NP_075390.1 DBSOURCE REFSEQ: accession NM_023014.1 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 474) 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 AL049674.1. On Mar 4, 2006 this sequence version replaced XP_943477.1. ##Evidence-Data-START## Transcript exon combination :: AL049674.1, BC075008.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2145743 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240189.2/ ENSP00000240189.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##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 2" /calculated_mol_wt=54741 Region 97..124 /region_name="LRR 1, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60811.2)" Region 179..203 /region_name="LRR 2, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60811.2)" Region 204..230 /region_name="LRR 3, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60811.2)" Region 231..265 /region_name="LRR 4, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60811.2)" Region 266..291 /region_name="LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60811.2)" Region 292..323 /region_name="LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60811.2)" Region 324..342 /region_name="LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60811.2)" Region 348..375 /region_name="LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60811.2)" Region 376..400 /region_name="LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60811.2)" CDS 1..474 /gene="PRAMEF2" /gene_synonym="DJ845O24.3" /coded_by="NM_023014.1:88..1512" /db_xref="CCDS:CCDS149.1" /db_xref="GeneID:65122" /db_xref="HGNC:HGNC:28841" ORIGIN 1 msiqapprll elagqsllrd qalsisamee lprvlylplf reafsrrhfq tltvmvqawp 61 ftclplvslm ktlhleplka lleglhmllt qkdrprrwkl qvldlrdvde nfwarwpgaw 121 alscfpeams krqtaedcpr tgehqplkvf idiclkeipq declrylfqw vyqrrglvhl 181 ccsklvnylt pikylrkslk iiyinsigel eihntcwphl irklycylke mktlcklvfs 241 rchhytsdne legwlvtrft svflrlehlq llkiklitff sghleqlirc lqnplenlel 301 tcgnlleedl kclsqfpslg ylkhlnlsyv llfrislepl gallekiaas letlvlegcq 361 ihysqlsail pglsccsqlt tfyfgsncms idalkdllrh tsglsklsle typapeesln 421 slvrvnweif tplraelmct lrefrqpkri figptpcpsc gsspseelel hlcc // LOCUS NP_001005519 312 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 6C68 [Homo sapiens]. ACCESSION NP_001005519 VERSION NP_001005519.2 DBSOURCE REFSEQ: accession NM_001005519.2 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 Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and Mollon JD. TITLE Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia JOURNAL Genes Brain Behav. 13 (2), 144-151 (2014) PUBMED 24152035 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC122685.9. This sequence is a reference standard in the RefSeqGene project. On Apr 29, 2011 this sequence version replaced NP_001005519.1. 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 seven-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, 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. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000548615.1/ ENSP00000448811.1 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="12" /map="12q13.2" Protein 1..312 /product="olfactory receptor 6C68" /calculated_mol_wt=35165 Site 24..44 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NDL8.2)" Region 33..298 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 39..288 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 56..76 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NDL8.2)" Site 96..116 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NDL8.2)" Site 144..164 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NDL8.2)" Site 198..218 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NDL8.2)" Site 240..260 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NDL8.2)" Site 272..292 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NDL8.2)" CDS 1..312 /gene="OR6C68" /coded_by="NM_001005519.2:1..939" /db_xref="CCDS:CCDS31826.2" /db_xref="GeneID:403284" /db_xref="HGNC:HGNC:31297" ORIGIN 1 mrkhtaittf illgltedpq lqvllfmflf itymlsvtgk ltiialtmld phlktpmyff 61 lqnlsfleis ftatcvprfl ysistgnkii tynacviqlf fadlfgvtef fllatmsydr 121 yvaickplhy maimsnkvck tmviccwmaa lmiilpplsl gfhlefcdsn vinhfgcdal 181 pilkipcsdt slieqmvvas avltfiitlv cvvlsytyii rtilkfpsvq qkkkafstcs 241 shitvvsity gscifiyikp sakeevnink gvsvlissis pmlnsfiytl rneqvkqafh 301 dslkkiafrl kk // LOCUS NP_063950 319 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 2S2 [Homo sapiens]. ACCESSION NP_063950 VERSION NP_063950.2 DBSOURCE REFSEQ: accession NM_019897.2 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 319) 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 319) 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 3 (residues 1 to 319) 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 4 (residues 1 to 319) 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 5 (residues 1 to 319) AUTHORS Hoppe R, Breer H and Strotmann J. TITLE Organization and evolutionary relatedness of OR37 olfactory receptor genes in mouse and human JOURNAL Genomics 82 (3), 355-364 (2003) PUBMED 12906860 REFERENCE 6 (residues 1 to 319) 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 7 (residues 1 to 319) AUTHORS Strotmann J, Hoppe R, Conzelmann S, Feinstein P, Mombaerts P and Breer H. TITLE Small subfamily of olfactory receptor genes: structural features, expression pattern and genomic organization JOURNAL Gene 236 (2), 281-291 (1999) PUBMED 10452948 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from BC104869.1. On Feb 14, 2008 this sequence version replaced NP_063950.1. 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. 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, Jul 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 functional according to the Classifier for Olfactory Receptor Pseudogenes. CCDS Note: This olfactory receptor gene is a segregating pseudogene (PMID:22908908), where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele that is predicted to be non-functional. This CCDS is being retained because the Classifier for Olfactory Receptor Pseudogenes (CORP) predicts the reference genome allele to be functional. ##Evidence-Data-START## Transcript is intronless :: BC104869.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000341959.2/ ENSP00000344040.2 polymorphic pseudogene :: PMID: 22908908 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="9" /map="9p13.3" Protein 1..319 /product="olfactory receptor 2S2" /note="olfactory receptor OR9-3" /calculated_mol_wt=35041 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NQN1.2)" Region 26..301 /region_name="7tmA_OR13-like" /note="olfactory receptor family 13 and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors; cd15430" /db_xref="CDD:320547" Region 27..53 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:320547" Site 27..50 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NQN1.2)" Site 59..80 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NQN1.2)" Region 60..86 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320547" Site order(82,85..86,98..103,105..106,109,154,156..160,196, 199..201,203..205,207..208,253,256..257,259..260,263, 275..276,278..280,283,286..287) /site_type="other" /note="putative ligand binding pocket [chemical binding]" /db_xref="CDD:320547" Region 98..128 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320547" Site 102..121 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NQN1.2)" Region 141..162 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320547" Site 141..159 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NQN1.2)" Region 196..226 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320547" Site 197..220 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NQN1.2)" Region 233..263 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320547" Site 238..260 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NQN1.2)" Region 276..301 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320547" Site 280..299 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NQN1.2)" CDS 1..319 /gene="OR2S2" /gene_synonym="OR37A; OST715" /coded_by="NM_019897.2:57..1016" /db_xref="CCDS:CCDS6596.2" /db_xref="GeneID:56656" /db_xref="HGNC:HGNC:8276" ORIGIN 1 mekanetspv mgfvllrlsa hpelektffv lillmylvil lgngvlilvt ildsrlhtpm 61 yfflgnlsfl dicfttssvp lvldsfltpq etisfsacav qmalsfamag teclllsmma 121 fdryvaicnp lrysvimska aympmaassw aiggaasvvh tslaiqlpfc gdnvinhftc 181 eilavlklac adisinvism evtnviflgv pvlfisfsyv fiittilrip saegrkkvfs 241 tcsahltvvi vfygtlffmy gkpkskdsmg adkedlsdkl iplfygvvtp mlnpiiyslr 301 nkdvkaavrr llrpkgftq // LOCUS NP_001004481 318 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 13C2 [Homo sapiens]. ACCESSION NP_001004481 XP_373308 VERSION NP_001004481.1 DBSOURCE REFSEQ: accession NM_001004481.1 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 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 318) 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 318) AUTHORS Hoppe R, Breer H and Strotmann J. TITLE Organization and evolutionary relatedness of OR37 olfactory receptor genes in mouse and human JOURNAL Genomics 82 (3), 355-364 (2003) PUBMED 12906860 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AL359846.11. On Sep 19, 2004 this sequence version replaced XP_373308.3. 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]. ##Evidence-Data-START## Transcript is intronless :: BC136824.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000542196.2/ ENSP00000438815.1 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="9" /map="9q31.1" Protein 1..318 /product="olfactory receptor 13C2" /note="olfactory receptor OR9-12" /calculated_mol_wt=35563 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGS9.1)" Site 26..46 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS9.1)" Region 34..311 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 41..296 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 55..75 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS9.1)" Site 100..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS9.1)" Site 140..160 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS9.1)" Site 198..217 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS9.1)" Site 238..258 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS9.1)" Site 278..298 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS9.1)" CDS 1..318 /gene="OR13C2" /gene_synonym="OR37K" /coded_by="NM_001004481.1:1..957" /db_xref="CCDS:CCDS35092.1" /db_xref="GeneID:392376" /db_xref="HGNC:HGNC:14701" ORIGIN 1 mewenhtilv efflkglsgh prlellffvl ifimyvvill gngtlilisi ldphlhtpmy 61 fflgnlsfld icytttsips tlvsflserk tislsgcavq mflglamgtt ecvllgmmaf 121 dryvaicnpl rypiimskda yvpmaagswi igavnsavqs vfvvqlpfcr nniinhftce 181 ilavmklaca disdnefiml vattlfiltp llliivsytl iivsifkiss segrskasst 241 csahltvvii fygtilfmym kpksketlns ddldatdkii smfygvmtpm mnpliyslrn 301 kdvkeavkhl lnrrffsk // LOCUS NP_001004697 315 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 2T5 [Homo sapiens]. ACCESSION NP_001004697 XP_377644 VERSION NP_001004697.1 DBSOURCE REFSEQ: accession NM_001004697.2 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 315) 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 AC138089.2. On Sep 19, 2004 this sequence version replaced XP_377644.2. 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]. Sequence Note: The RefSeq transcript and protein were derived from 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 :: BC140915.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000641363.1/ ENSP00000493066.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..315 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q44" Protein 1..315 /product="olfactory receptor 2T5" /note="olfactory receptor OR1-62" /calculated_mol_wt=35464 Site 3 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1)" Site 9 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1)" Site 30..53 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1)" Region 38..309 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 45..294 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 62..83 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1)" Site 105..124 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1)" Site 144..162 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1)" Site 200..223 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1)" Site 241..263 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1)" Site 277..296 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6IEZ7.1)" CDS 1..315 /gene="OR2T5" /gene_synonym="OR1-62" /coded_by="NM_001004697.2:1..948" /db_xref="CCDS:CCDS31118.1" /db_xref="GeneID:401993" /db_xref="HGNC:HGNC:15017" ORIGIN 1 manitrmanh tgkldfilmg lfrrskhpal lsvvifvvfl kalsgnavli llihcdahlh 61 spmyffisql slmdmayisv tvpkmlldqv mgvnkvsape cgmqmflylt lagsefflla 121 tmaydryvai chplrypvlm nhrvclflas gcwflgsvdg fmltpitmsf pfcrsweihh 181 ffcevpavti lscsdtslye tlmylccvlm llipvtiiss syllilltvh rmnsaegrkk 241 afatcsshlt vvilfygaav ytymlpssyh tpekdmmvsv fytiltpvln pliyslrnkd 301 vmgalkkmlt vrfvl // LOCUS NP_001004482 318 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 13C5 [Homo sapiens]. ACCESSION NP_001004482 XP_071093 VERSION NP_001004482.1 DBSOURCE REFSEQ: accession NM_001004482.1 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 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 318) 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 318) AUTHORS Hoppe R, Breer H and Strotmann J. TITLE Organization and evolutionary relatedness of OR37 olfactory receptor genes in mouse and human JOURNAL Genomics 82 (3), 355-364 (2003) PUBMED 12906860 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AL450426.7. On Sep 18, 2004 this sequence version replaced XP_071093.7. 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]. ##Evidence-Data-START## Transcript is intronless :: BC136842.1, SRR1660803.6279.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000374779.3/ ENSP00000363911.2 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="9" /map="9q31.1" Protein 1..318 /product="olfactory receptor 13C5" /note="olfactory receptor OR9-11" /calculated_mol_wt=35665 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGS8.1)" Region 25..300 /region_name="7tmA_OR13-like" /note="olfactory receptor family 13 and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors; cd15430" /db_xref="CDD:320547" Region 26..52 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:320547" Site 26..46 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS8.1)" Site 55..75 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS8.1)" Region 59..85 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320547" 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, 274..275,277..279,282,285..286) /site_type="other" /note="putative ligand binding pocket [chemical binding]" /db_xref="CDD:320547" Region 97..127 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320547" Site 100..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS8.1)" Region 140..161 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320547" Site 140..160 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS8.1)" Region 195..225 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320547" Site 198..217 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS8.1)" Region 232..262 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320547" Site 238..258 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS8.1)" Region 275..300 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320547" Site 278..298 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS8.1)" CDS 1..318 /gene="OR13C5" /gene_synonym="OR9-11" /coded_by="NM_001004482.1:1..957" /db_xref="CCDS:CCDS35091.1" /db_xref="GeneID:138799" /db_xref="HGNC:HGNC:15100" ORIGIN 1 mewenhtilv efflkglsgh prlellffvl ifimyvvill gngtlilisi ldphlhtpmy 61 fflgnlsfld icytttsips tlvsflserk tislsgcavq mflslamgtt ecvllgvmaf 121 dryvaicnpl rypiimskda yvpmaagswi igavnsavqt vfvvqlpfcr nniinhftce 181 ilavmklaca disgnefill vtttlflltp llliivsytl iilsifkiss segrskpsst 241 csarltvvit fcgtiflmym kpksqetlns ddldatdkli fifyrvmtpm mnpliyslrn 301 kdvkeavkhl lrrknfnk // LOCUS NP_001004690 312 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 2M5 [Homo sapiens]. ACCESSION NP_001004690 XP_060301 VERSION NP_001004690.1 DBSOURCE REFSEQ: accession NM_001004690.1 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 AL592313.7. On Sep 19, 2004 this sequence version replaced XP_060301.3. 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 :: ENST00000366476.1/ ENSP00000355432.1 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 2M5" /note="olfactory receptor, family 2, subfamily M, member 5 pseudogene" /calculated_mol_wt=34981 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A3KFT3.1)" Site 26..49 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A3KFT3.1)" Region 33..305 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 41..290 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 58..79 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A3KFT3.1)" Site 101..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A3KFT3.1)" Site 140..158 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A3KFT3.1)" Site 196..219 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A3KFT3.1)" Site 237..259 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A3KFT3.1)" Site 273..292 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A3KFT3.1)" CDS 1..312 /gene="OR2M5" /gene_synonym="OR2M5P" /coded_by="NM_001004690.1:1..939" /db_xref="CCDS:CCDS31105.1" /db_xref="GeneID:127059" /db_xref="HGNC:HGNC:19576" ORIGIN 1 mawenqtfns dfillgifnh spthtflffl vlaifsvafm gnsvmvlliy ldtqlhtpmy 61 fllsqlflmd lmlicstvpk mafnylsgsk sismagcatq iffyvsllgs ecfllavmsy 121 dryiaichpl rytnlmrpki cglmtafswi lgsmdaiida vatfsfsycg sreiahffcd 181 fpsllilscn dtsifekvlf iccivmivfp vaiiiasyar vilavihmgs gegrrkaftt 241 csshlmvvgm yygaglfmyi rptsdrspmq dklvsvfyti ltpmlnpliy slrnkevtra 301 lrkvlgkgkc ge // LOCUS NP_001345378 59 aa linear PRI 01-JUL-2020 DEFINITION embryonic testis differentiation protein homolog C [Homo sapiens]. ACCESSION NP_001345378 VERSION NP_001345378.1 DBSOURCE REFSEQ: accession NM_001358449.1 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. 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 AL590282.6. 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. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000635820.1/ ENSP00000490576.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..59 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq26.3" Protein 1..59 /product="embryonic testis differentiation protein homolog C" /calculated_mol_wt=6669 CDS 1..59 /gene="ETDC" /coded_by="NM_001358449.1:1..180" /db_xref="CCDS:CCDS87783.1" /db_xref="GeneID:110806299" /db_xref="HGNC:HGNC:53450" ORIGIN 1 mdkelpkasp sepalnikks gksfkckkpt knvqvflinr qlgrnrsdtd lskwlwmlp // LOCUS NP_001116437 784 aa linear PRI 01-JUL-2020 DEFINITION repetin [Homo sapiens]. ACCESSION NP_001116437 XP_001721565 XP_001724459 XP_942293 VERSION NP_001116437.1 DBSOURCE REFSEQ: accession NM_001122965.1 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 784) AUTHORS Pospiech E, Lee SD, Kukla-Bartoszek M, Karlowska-Pik J, Wozniak A, Boron M, Zubanska M, Bronikowska A, Hong SR, Lee JH, Wojas-Pelc A, Lee HY, Spolnicka M and Branicki W. TITLE Variation in the RPTN gene may facilitate straight hair formation in Europeans and East Asians JOURNAL J. Dermatol. Sci. 91 (3), 331-334 (2018) PUBMED 29935789 REMARK GeneRIF: Letter: RPTN gene is associated with straight hair in Europeans and East Asians. Genetics of straight hair may to some degree overlap between these two ancestry groups. REFERENCE 2 (residues 1 to 784) AUTHORS Trzeciak M, Sakowicz-Burkiewicz M, Wesserling M, Glen J, Dobaczewska D, Bandurski T, Nowicki R and Pawelczyk T. TITLE Altered Expression of Genes Encoding Cornulin and Repetin in Atopic Dermatitis JOURNAL Int. Arch. Allergy Immunol. 172 (1), 11-19 (2017) PUBMED 28219068 REMARK GeneRIF: The single-nucleotide polymorphisms of CRNN (rs941934) and RPTN (rs3001978, rs28441202) may contribute to Atopic Dermatitis development, but further studies on a larger group of Atopic Dermatitis patients are needed to verify this assumption. REFERENCE 3 (residues 1 to 784) AUTHORS Wang S, Ren H, Xu J, Yu Y, Han S, Qiao H, Cheng S, Xu C, An S, Ju B, Yu C, Wang C, Wang T, Yang Z, Taylor EW and Zhao L. TITLE Diminished serum repetin levels in patients with schizophrenia and bipolar disorder JOURNAL Sci Rep 5, 7977 (2015) PUBMED 25613293 REMARK GeneRIF: RPTN plays a potential role in emotional and cognitive processing; its decrease in serum may indicate its involvement in the pathogenesis of schizophrenia and bipolar disorder Publication Status: Online-Only REFERENCE 4 (residues 1 to 784) AUTHORS Huber M, Siegenthaler G, Mirancea N, Marenholz I, Nizetic D, Breitkreutz D, Mischke D and Hohl D. TITLE Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex JOURNAL J. Invest. Dermatol. 124 (5), 998-1007 (2005) PUBMED 15854042 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AY396742.1. On or before Apr 4, 2008 this sequence version replaced XP_942293.1, XP_001721565.1, XP_001724459.1. ##Evidence-Data-START## Transcript exon combination :: AY396742.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142586, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000316073.3/ ENSP00000317895.3 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="1" /map="1q21.3" Protein 1..784 /product="repetin" /note="intermediate filament-associated protein" /calculated_mol_wt=90600 Region 1..91 /region_name="S-100-like. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q6XPR3.1)" Region 3..89 /region_name="S-100" /note="S-100: 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...; cd00213" /db_xref="CDD:238131" Site order(3..19,25..27,36..37,39..41,69..72,74..75,77..80, 82..89) /site_type="other" /note="dimerization interface [polypeptide binding]" /db_xref="CDD:238131" Region 13..75 /region_name="EF-hand_7" /note="EF-hand domain pair; pfam13499" /db_xref="CDD:290234" Site order(19,24,27,32..33,62,64,66,68,70,73) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238131" CDS 1..784 /gene="RPTN" /coded_by="NM_001122965.1:66..2420" /db_xref="CCDS:CCDS41397.1" /db_xref="GeneID:126638" /db_xref="HGNC:HGNC:26809" /db_xref="MIM:613259" ORIGIN 1 maqllnsils vidvfhkyak gngdcallck eelkqlllae fgdilqrpnd petvetilnl 61 ldqdrdghid fheylllvfq lvqacyhkld nkshggrtsq qergqegaqd ckfpgntgrq 121 hrqrheeerq nshhsqperq dgdshhgqpe rqdrdshhgq sekqdrdshh sqperqdrds 181 hhnqserqdk dfsfdqserq sqdsssgkkv shkstsgqak wqghifalnr cekpiqdshy 241 gqserhtqqs etlgqashfn qtnqqksgsy cgqserlgqe lgcgqtdrqg qsshygqtdr 301 qdqsyhygqt drqgqsshys qtdrqgqssh ysqpdrqgqs shygqmdrkg qcyhydqtnr 361 qgqgshysqp nrqgqsshyg qpdtqdqssh ygqtdrqdqs shygqterqg qsshysqmdr 421 qgqgshygqt drqgqsshyg qpdrqgqnsh ygqtdrqgqs shygqtdrqg qsshysqpdk 481 qgqsshygki drqdqsyhyg qpdgqgqssh ygqtdrqgqs fhygqpdrqg qsshysqmdr 541 qgqsshygqt drqgqsshyg qtdrqgqsyh ygqtdrqgqs shyiqsqtge iqgqnkyfqg 601 tegtrkasyv eqsgrsgrls qqtpgqegyq nqgqgfqsrd sqqnghqvwe peedsqhhqh 661 kllaqiqqer plchkgrdwq scsseqghrq aqtrqshgeg lshwaeeeqg hqtwdrhshe 721 sqegpcgtqd rrthkdeqnh qrrdrqtheh eqshqrrdrq thedkqnrqr rdrqthedeq 781 nhqr // LOCUS NP_001342542 405 aa linear PRI 01-JUL-2020 DEFINITION cytoplasmic polyadenylated homeobox-like [Homo sapiens]. ACCESSION NP_001342542 VERSION NP_001342542.1 DBSOURCE REFSEQ: accession NM_001355613.1 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 405) AUTHORS Tohonen V, Katayama S, Vesterlund L, Jouhilahti EM, Sheikhi M, Madissoon E, Filippini-Cattaneo G, Jaconi M, Johnsson A, Burglin TR, Linnarsson S, Hovatta O and Kere J. TITLE Novel PRD-like homeodomain transcription factors and retrotransposon elements in early human development JOURNAL Nat Commun 6, 8207 (2015) PUBMED 26360614 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 405) AUTHORS Leidenroth A and Hewitt JE. TITLE A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene JOURNAL BMC Evol. Biol. 10, 364 (2010) PUBMED 21110847 REMARK Publication Status: Online-Only COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC009122.8, LN651082.1, AC025287.8 and LN651083.1. 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 :: LN651082.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000640559.2/ ENSP00000491599.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..405 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16q23.1" Protein 1..405 /product="cytoplasmic polyadenylated homeobox-like" /note="cytoplasmic polyadenylated homeobox 1" /calculated_mol_wt=45583 Region 28..82 /region_name="HOX" /note="Homeodomain; smart00389" /db_xref="CDD:197696" Site order(30..33,35,52,58,71,73..74,77..78,80..82) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Site order(31,34,74,77..78,81) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" CDS 1..405 /gene="CPHXL" /gene_synonym="CPHXL1" /coded_by="NM_001355613.1:49..1266" /db_xref="CCDS:CCDS86543.1" /db_xref="GeneID:105371346" /db_xref="HGNC:HGNC:51815" /db_xref="MIM:618700" ORIGIN 1 mnldgtsggf paeedhhnee rqtknkrktk hrhkfseell qelkeifgen cypdyttrkt 61 laikfdcpvn vidnwfqnkr arlppaerrr ifvlqkkhdf pvqahsflsc qetqaaahny 121 atkqslsgaq ralmrragcs hlekqwipsq emgyncfsle nqetpsqqvg pqcsylekpg 181 ipsqqvgsqc syleklgips qqvasqssyl vtgtekhpgc amgyggdtgs ghsgsghsta 241 yhflsynsae clhpppssvp yfhgertetk esqhaspfll dyaqgaygvk kdhclcsfcl 301 sllgqqqqnd wqyhlqqhqq pqnylegmml qeqlpmdsgp wdlgkqwssa qsqlqsqlpq 361 nngkplcsql qhmslqiaad spllplgqdm qeraseqprt qmqql // LOCUS NP_001229256 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin carboxyl-terminal hydrolase 17-like protein 24 [Homo sapiens]. ACCESSION NP_001229256 XP_001130410 VERSION NP_001229256.1 DBSOURCE REFSEQ: accession NM_001242327.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC116655.7. On Jun 26, 2011 this sequence version replaced XP_001130410.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000504481.1/ ENSP00000425375.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin carboxyl-terminal hydrolase 17-like protein 24" /EC_number="3.4.19.12" /note="ubiquitin thioesterase 17; deubiquitinating enzyme 17; ubiquitin-specific-processing protease 17" /calculated_mol_wt=59580 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L24" /gene_synonym="USP17L25; USP17L26; USP17L27; USP17L28; USP17L29; USP17L30" /coded_by="NM_001242327.1:1..1593" /db_xref="CCDS:CCDS59464.1" /db_xref="GeneID:728369" /db_xref="HGNC:HGNC:44453" ORIGIN 1 meddslylrg 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 daevtassit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel 421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllnls sstpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_036499 313 aa linear PRI 01-JUL-2020 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_001004469 309 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 10J5 [Homo sapiens]. ACCESSION NP_001004469 XP_060458 VERSION NP_001004469.1 DBSOURCE REFSEQ: accession NM_001004469.1 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 Kim SH, Yoon YC, Lee AS, Kang N, Koo J, Rhyu MR and Park JH. TITLE Expression of human olfactory receptor 10J5 in heart aorta, coronary artery, and endothelial cells and its functional role in angiogenesis JOURNAL Biochem. Biophys. Res. Commun. 460 (2), 404-408 (2015) PUBMED 25791473 REMARK GeneRIF: data demonstrate the physiological role of OR10J5 in angiogenesis and represent roles of ORs in HUVEC cells REFERENCE 2 (residues 1 to 309) AUTHORS Reiner AP, Beleza S, Franceschini N, Auer PL, Robinson JG, Kooperberg C, Peters U and Tang H. TITLE Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women JOURNAL Am. J. Hum. Genet. 91 (3), 502-512 (2012) PUBMED 22939635 REFERENCE 3 (residues 1 to 309) 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 309) AUTHORS Yang Q, Kathiresan S, Lin JP, Tofler GH and O'Donnell CJ. TITLE Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study JOURNAL BMC Med. Genet. 8 Suppl 1, S12 (2007) PUBMED 17903294 REMARK Publication Status: Online-Only REFERENCE 5 (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 6 (residues 1 to 309) 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 PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AL606752.11. On Sep 18, 2004 this sequence version replaced XP_060458.4. 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 :: BC137026.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000334857.3/ ENSP00000334441.2 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="1" /map="1q23.2" Protein 1..309 /product="olfactory receptor 10J5" /note="olfactory receptor OR1-28" /calculated_mol_wt=34270 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NHC4.1)" Region 25..300 /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 (Q8NHC4.1)" Site 55..75 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NHC4.1)" 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..159,194, 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: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 (Q8NHC4.1)" 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 (Q8NHC4.1)" Region 194..224 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320353" Site 197..216 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NHC4.1)" Region 231..261 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320353" Site 237..257 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NHC4.1)" Region 268..293 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320353" Site 271..291 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NHC4.1)" CDS 1..309 /gene="OR10J5" /gene_synonym="OR1-28" /coded_by="NM_001004469.1:1..930" /db_xref="CCDS:CCDS30910.1" /db_xref="GeneID:127385" /db_xref="HGNC:HGNC:14993" ORIGIN 1 mkrknftevs efiflgfssf gkhqitlfvv fltvyiltlv aniiivtiic idhhlhtpmy 61 fflsmlasse tvytlvivpr mllslifhnq pislagcatq mfffvilatn ncflltamgy 121 dryvaicrpl rytvimskgl caqlvcgsfg igltmavlhv tamfnlpfcg tvvdhffcdi 181 ypvmklscid ttineiinyg vssfvifvpi glifisyvlv issilqiasa egrkktfatc 241 vshltvvivh cgcasiaylk pksessiekd lvlsvtytii tpllnpvvys lrnkevkdal 301 crvvgrnis // LOCUS NP_001001956 318 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 13C9 [Homo sapiens]. ACCESSION NP_001001956 XP_210752 VERSION NP_001001956.1 DBSOURCE REFSEQ: accession NM_001001956.1 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 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 318) AUTHORS Hoppe R, Breer H and Strotmann J. TITLE Organization and evolutionary relatedness of OR37 olfactory receptor genes in mouse and human JOURNAL Genomics 82 (3), 355-364 (2003) PUBMED 12906860 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AL359846.11. On Aug 30, 2004 this sequence version replaced XP_210752.4. 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 :: ENST00000259362.1/ ENSP00000259362.1 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="9" /map="9q31.1" Protein 1..318 /product="olfactory receptor 13C9" /note="olfactory receptor OR9-13" /calculated_mol_wt=35723 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGT0.1)" Site 26..46 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGT0.1)" Region 34..310 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 41..296 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 55..75 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGT0.1)" Site 100..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGT0.1)" Site 140..160 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGT0.1)" Site 198..217 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGT0.1)" Site 238..258 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGT0.1)" Site 278..298 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGT0.1)" CDS 1..318 /gene="OR13C9" /gene_synonym="OR37L; OR9-13" /coded_by="NM_001001956.1:1..957" /db_xref="CCDS:CCDS35093.1" /db_xref="GeneID:286362" /db_xref="HGNC:HGNC:15104" ORIGIN 1 mewenqtilv efflkghsvh prlellffvl ifimyvvill gngtlilisi ldphlhtpmy 61 fflgnlsfld icytttsips tlvsflserk tisfsgcavq mflglamgtt ecvllgmmaf 121 dryvaicnpl rypiimskna yvpmavgswf agivnsavqt tfvvqlpfcr knvinhfsce 181 ilavmklaca disgneflml vatilftlmp lllivisysl iissilkihs segrskafst 241 csahltvvii fygtilfmym kpksketlns ddldatdkii smfygvmtpm mnpliyslrn 301 kdvkeavkhl pnrrffsk // LOCUS NP_001004483 320 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 13C8 [Homo sapiens]. ACCESSION NP_001004483 XP_071096 VERSION NP_001004483.1 DBSOURCE REFSEQ: accession NM_001004483.1 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 320) 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 320) 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 320) AUTHORS Hoppe R, Breer H and Strotmann J. TITLE Organization and evolutionary relatedness of OR37 olfactory receptor genes in mouse and human JOURNAL Genomics 82 (3), 355-364 (2003) PUBMED 12906860 REFERENCE 4 (residues 1 to 320) 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 AL450426.7. On Sep 18, 2004 this sequence version replaced XP_071096.3. 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 :: ENST00000335040.1/ ENSP00000334068.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..320 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q31.1" Protein 1..320 /product="olfactory receptor 13C8" /note="olfactory receptor OR9-10 pseudogene" /calculated_mol_wt=35163 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGS7.1)" Site 26..46 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS7.1)" Region 34..314 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 41..296 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 55..75 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS7.1)" Site 100..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS7.1)" Site 140..160 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS7.1)" Site 198..217 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS7.1)" Site 238..258 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS7.1)" Site 278..298 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS7.1)" CDS 1..320 /gene="OR13C8" /gene_synonym="OR37H; OR9-10" /coded_by="NM_001004483.1:1..963" /db_xref="CCDS:CCDS35090.1" /db_xref="GeneID:138802" /db_xref="HGNC:HGNC:15103" ORIGIN 1 mertndstst efflvglsah pklqtvffvl ilwmylmill gngvlisvii fdshlhtpmy 61 fflcnlsfld vcytsssvpl ilasflavkk kvsfsgcmvq mfisfamgat ecmilgtmal 121 dryvaicypl rypvimskga yvamaagswv tglvdsvvqt afamqlpfca nnvikhfvce 181 ilailklaca disinvismt gsnlivlvip llvisisyif ivatilrips tegkhkafst 241 csahltvvii fygtiffmya kpeskasvds gnediieali slfygvmtpm lnpliyslrn 301 kdvkaavkni lcrknfsdgk // LOCUS NP_067091 189 aa linear PRI 01-JUL-2020 DEFINITION interferon alpha-17 precursor [Homo sapiens]. ACCESSION NP_067091 VERSION NP_067091.1 DBSOURCE REFSEQ: accession NM_021268.2 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 189) AUTHORS Elaldi N, Yilmaz M, Bagci B, Yelkovan I, Bagci G, Gozel MG, Engin A, Bakir M and Dokmetas I. TITLE Relationship between IFNA1, IFNA5, IFNA10, and IFNA17 gene polymorphisms and Crimean-Congo hemorrhagic fever prognosis in a Turkish population range JOURNAL J. Med. Virol. 88 (7), 1159-1167 (2016) PUBMED 26694082 REMARK GeneRIF: results show that IFNA1 rs1332190 and IFNA17 rs9298814 SNPs may play an important role in Crimean-Congo hemorrhagic fever susceptibility REFERENCE 2 (residues 1 to 189) AUTHORS Yang XR, Liang X, Pfeiffer RM, Wheeler W, Maeder D, Burdette L, Yeager M, Chanock S, Tucker MA and Goldstein AM. TITLE Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations JOURNAL Fam. Cancer 9 (4), 625-633 (2010) PUBMED 20574843 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 3 (residues 1 to 189) AUTHORS Silva LK, Blanton RE, Parrado AR, Melo PS, Morato VG, Reis EA, Dias JP, Castro JM, Vasconcelos PF, Goddard KA, Barreto ML, Reis MG and Teixeira MG. TITLE Dengue hemorrhagic fever is associated with polymorphisms in JAK1 JOURNAL Eur. J. Hum. Genet. 18 (11), 1221-1227 (2010) PUBMED 20588308 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (residues 1 to 189) AUTHORS Makrythanasis P, Tzetis M, Rapti A, Papatheodorou A, Tsipi M, Kitsiou S, Tsiamouri A, Poulou M, Roussos C and Kanavakis E. TITLE Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients JOURNAL Genet Test Mol Biomarkers 14 (4), 577-584 (2010) PUBMED 20722470 REMARK GeneRIF: We did not reproduce the associations previously noted with the TNF, IFNA10, IFNA17, and IFNG genes with pulmonary sarcoidosis. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (residues 1 to 189) 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 6 (residues 1 to 189) 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 189) AUTHORS Zoon KC, Miller D, Bekisz J, zur Nedden D, Enterline JC, Nguyen NY and Hu RQ. TITLE Purification and characterization of multiple components of human lymphoblastoid interferon-alpha JOURNAL J. Biol. Chem. 267 (21), 15210-15216 (1992) PUBMED 1634550 REFERENCE 8 (residues 1 to 189) AUTHORS Sen GC and Lengyel P. TITLE The interferon system. A bird's eye view of its biochemistry JOURNAL J. Biol. Chem. 267 (8), 5017-5020 (1992) PUBMED 1371992 REMARK Review article REFERENCE 9 (residues 1 to 189) AUTHORS Savel'ev,V.I., Zlochevskii,M.L., Sorokin,A.V., Naroditskaia,V.A. and Bolotin,A.P. TITLE [Cloning and the determination of the nucleotide sequences in 2 genes of human leukocyte interferons] JOURNAL Antibiot. Med. Biotekhnol. 31 (8), 592-596 (1986) PUBMED 3767336 REFERENCE 10 (residues 1 to 189) AUTHORS Mizoguchi,J., Pitha,P.M. and Raj,N.B. TITLE Efficient expression in Escherichia coli of two species of human interferon-alpha and their hybrid molecules JOURNAL DNA 4 (3), 221-232 (1985) PUBMED 3891272 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL162420.13. 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 is intronless :: M11026.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000413767.2/ ENSP00000411940.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..189 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9p21.3" Protein 1..189 /product="interferon alpha-17 precursor" /note="interferon alpha-WA; leIF I; IFN-alpha-17; interferon alpha-T; interferon alpha-88; interferon alpha-I'" /calculated_mol_wt=19299 sig_peptide 1..23 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2447 mat_peptide 24..189 /product="interferon alpha-17" /calculated_mol_wt=19299 Region 26..185 /region_name="Interferon" /note="Interferon alpha/beta domain; pfam00143" /db_xref="CDD:306620" Site order(28..29,32,35..36,39,42..43,100..101,103..104, 106..107,110,113..114,117..118,121) /site_type="other" /note="putative IFNAR-1 binding site" /db_xref="CDD:238047" Site order(53..60,62..64,70..71,141..142,144..145,148..149, 151..152,155..160) /site_type="other" /note="putative IFNAR-2 binding site" /db_xref="CDD:238047" Site 101 /site_type="other" /note="N-glycosylation site [posttranslational modification]" /db_xref="CDD:238047" CDS 1..189 /gene="IFNA17" /gene_synonym="IFN-alphaI; IFNA; INFA; LEIF2C1" /coded_by="NM_021268.2:50..619" /db_xref="CCDS:CCDS6500.1" /db_xref="GeneID:3451" /db_xref="HGNC:HGNC:5422" /db_xref="MIM:147583" ORIGIN 1 malsfsllma vlvlsyksic slgcdlpqth slgnrralil laqmgrispf sclkdrhdfg 61 lpqeefdgnq fqktqaisvl hemiqqtfnl fstedssaaw eqsllekfst elyqqlnnle 121 acviqevgme etplmnedsi lavrkyfqri tlyltekkys pcawevvrae imrslsfstn 181 lqkilrrkd // LOCUS NP_001034241 152 aa linear PRI 01-JUL-2020 DEFINITION regulator of G-protein signaling 21 [Homo sapiens]. ACCESSION NP_001034241 VERSION NP_001034241.1 DBSOURCE REFSEQ: accession NM_001039152.3 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 152) AUTHORS Cohen SP, Buckley BK, Kosloff M, Garland AL, Bosch DE, Cheng G Jr, Radhakrishna H, Brown MD, Willard FS, Arshavsky VY, Tarran R, Siderovski DP and Kimple AJ. TITLE Regulator of G-protein signaling-21 (RGS21) is an inhibitor of bitter gustatory signaling found in lingual and airway epithelia JOURNAL J. Biol. Chem. 287 (50), 41706-41719 (2012) PUBMED 23095746 REMARK GeneRIF: RGS21 modulates bitter taste signal transduction. REFERENCE 2 (residues 1 to 152) AUTHORS Zhang D, Pang Z, Li S, Jiang W, Wang S, Thomassen M, Hjelmborg JV, Kruse TA, Ohm Kyvik K, Christensen K, Zhu G and Tan Q. TITLE Genome-wide linkage and association scans for pulse pressure in Chinese twins JOURNAL Hypertens. Res. 35 (11), 1051-1057 (2012) PUBMED 22763476 REFERENCE 3 (residues 1 to 152) AUTHORS Li X, Chen L, Ji C, Liu B, Gu J, Xu J, Zou X, Gu S and Mao Y. TITLE Isolation and expression pattern of RGS21 gene, a novel RGS member JOURNAL Acta Biochim. Pol. 52 (4), 943-946 (2005) PUBMED 16302027 REMARK GeneRIF: RGS21 mRNA is expressed ubiquitously in the 16 tissues examined, implying general physiological roles. REFERENCE 4 (residues 1 to 152) AUTHORS von Buchholtz L, Elischer A, Tareilus E, Gouka R, Kaiser C, Breer H and Conzelmann S. TITLE RGS21 is a novel regulator of G protein signalling selectively expressed in subpopulations of taste bud cells JOURNAL Eur. J. Neurosci. 19 (6), 1535-1544 (2004) PUBMED 15066150 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AY643711.1, AL357566.12 and AL390957.14. Summary: Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins are GTPase-activating proteins for Gi (see GNAI1; MIM 139310) and Gq (see GNAQ; MIM 600998) class G-alpha proteins. They accelerate transit through the cycle of GTP binding and hydrolysis and thereby accelerate signaling kinetics and termination.[supplied by OMIM, 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. ##Evidence-Data-START## Transcript exon combination :: AY643711.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000417209.2/ ENSP00000428343.1 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="1" /map="1q31.2" Protein 1..152 /product="regulator of G-protein signaling 21" /note="regulator of G-protein signalling 21" /calculated_mol_wt=17540 Region 25..135 /region_name="RGS_RGS21" /note="Regulator of G protein signaling (RGS) domain found in the RGS21 protein; cd08723" /db_xref="CDD:188678" CDS 1..152 /gene="RGS21" /coded_by="NM_001039152.3:175..633" /db_xref="CCDS:CCDS41448.1" /db_xref="GeneID:431704" /db_xref="HGNC:HGNC:26839" /db_xref="MIM:612407" ORIGIN 1 mpvkccfyrs ptaetmtwse nmdtllanqa gldafriflk sefseenvef wlacedfkkt 61 knadkiaska kmiysefiea dapkeinidf gtrdliskni aeptlkcfde aqkliyclma 121 kdsfprflks eiykklvnsq qvpnhkkwlp fl // LOCUS NP_001139505 313 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 56A5 [Homo sapiens]. ACCESSION NP_001139505 XP_372371 VERSION NP_001139505.1 DBSOURCE REFSEQ: accession NM_001146033.1 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 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 AC025016.8. On Mar 25, 2009 this sequence version replaced XP_372371.2. 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, Mar 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. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000532411.2/ ENSP00000481594.1 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 56A5" /note="olfactory receptor, family 56, subfamily A, member 5 pseudogene" /calculated_mol_wt=35187 Site 6 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P0C7T3.1)" Site 7 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P0C7T3.1)" Site 34..54 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7T3.1)" Region 45..310 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 45..295 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 68..88 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7T3.1)" Site 101..121 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7T3.1)" Site 147..167 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7T3.1)" Site 184 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P0C7T3.1)" Site 198 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P0C7T3.1)" Site 204..224 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7T3.1)" Site 247..267 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7T3.1)" Site 277..297 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7T3.1)" CDS 1..313 /gene="OR56A5" /gene_synonym="OR56A5P" /coded_by="NM_001146033.1:1..942" /db_xref="CCDS:CCDS73248.1" /db_xref="GeneID:390084" /db_xref="HGNC:HGNC:14792" ORIGIN 1 mtlpsnnsts pvfefflicf psfqswqhwl slplsllfll amganatlli tiyleaslhq 61 plyyllslls lldivlcltv ipkvlaifwf dlrsisfpac flqvfimnsf ltmesctfmi 121 maydryvaic kplqyssiit dqfvaraaif vvarnglltm pipilssrlr ycaghiiknc 181 ictnvsvskl scdditlnqs yqfvigwtll gsdlilivls yffilktvlr ikgegdmaka 241 lgtcgshfil ilffttvllv lvitnlarkr ippdvpilln ilhhlippal npivygvrtk 301 eikqgiqnll rrl // LOCUS NP_001001915 317 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 2G2 [Homo sapiens]. ACCESSION NP_001001915 VERSION NP_001001915.1 DBSOURCE REFSEQ: accession NM_001001915.1 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 317) 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 AL606804.11. 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 :: ENST00000320065.1/ ENSP00000326349.1 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 2G2" /note="olfactory receptor, family 2, subfamily G, member 2 pseudogene; olfactory receptor OR1-32" /calculated_mol_wt=35428 Site 8 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGZ5.1)" Site 29..52 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ5.1)" Region 44..308 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 44..293 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 61..82 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ5.1)" Site 104..123 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ5.1)" Site 143..161 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ5.1)" Site 199..222 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ5.1)" Site 240..262 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ5.1)" Site 276..295 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ5.1)" CDS 1..317 /gene="OR2G2" /gene_synonym="OR1-32" /coded_by="NM_001001915.1:1..954" /db_xref="CCDS:CCDS31092.1" /db_xref="GeneID:81470" /db_xref="HGNC:HGNC:15007" ORIGIN 1 mgmvrhtnes nlagfillgf sdypqlqkvl fvlililyll tilgnttiil vsrlepklhm 61 pmyfflshls flyrcftssv ipqllvnlwe pmktiayggc lvhlynshal gstecvlpav 121 mscdryvavc rplhytvlmh ihlcmalasm awlsgiattl vqstltlqlp fcghrqvdhf 181 icevpvlikl acvgttfnea elfvasilfl ivpvsfilvs sgyiahavlr iksatrrqka 241 fgtcfshltv vtifygtiif mylqpaksrs rdqgkfvslf ytvvtrmlnp liytlrikev 301 kgalkkvlak algvnil // LOCUS NP_001005237 321 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 51G1 [Homo sapiens]. ACCESSION NP_001005237 VERSION NP_001005237.1 DBSOURCE REFSEQ: accession NM_001005237.1 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 321) 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 321) 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 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 PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI 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. 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 :: BC136852.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000623849.1/ ENSP00000485612.1 polymorphic pseudogene :: PMID: 22908908 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 51G1" /note="olfactory receptor OR11-29; olfactory receptor 51G3" /calculated_mol_wt=36159 Site 6 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGK1.1)" Site 28..48 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGK1.1)" Region 33..309 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 43..294 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 57..77 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGK1.1)" Site 102..122 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGK1.1)" Site 142..162 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGK1.1)" Site 199..219 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGK1.1)" Site 240..260 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGK1.1)" Site 276..296 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGK1.1)" CDS 1..321 /gene="OR51G1" /gene_synonym="OR11-29; OR51G3P" /coded_by="NM_001005237.1:1..966" /db_xref="GeneID:79324" /db_xref="HGNC:HGNC:14738" ORIGIN 1 mtillnsslq ratffltgfq gleglhgwis ipfcfiyltv ilgnltilhv ictdatlhgp 61 myyflgmlav tdlglclstl ptvlgifwfd treigipacf tqlffihtls smessvllsm 121 sidryvavcn plhdstvltp acivkmglss vlrsallilp lpfllkrfqy chshvlahay 181 clhleimkla cssiivnhiy glfvvactvg vdslliflsy alilrtvlsi ashqerlral 241 ntcvshicav llfyipmigl slvhrfgehl prvvhlfmsy vyllvpplmn piiysiktkq 301 irqriikkfq fikslrcfwk d // LOCUS NP_001229258 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin carboxyl-terminal hydrolase 17-like protein 5 [Homo sapiens]. ACCESSION NP_001229258 XP_001130437 VERSION NP_001229258.1 DBSOURCE REFSEQ: accession NM_001242329.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC116655.7. On May 28, 2011 this sequence version replaced XP_001130437.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000507227.1/ ENSP00000425955.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin carboxyl-terminal hydrolase 17-like protein 5" /EC_number="3.4.19.12" /note="deubiquitinating enzyme 17-like protein 5; ubiquitin thiolesterase 17-like protein 5; ubiquitin-specific-processing protease 17-like protein 5; ubiquitin thioesterase 17-like protein 5" /calculated_mol_wt=59552 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L5" /coded_by="NM_001242329.1:1..1593" /db_xref="CCDS:CCDS59467.1" /db_xref="GeneID:728386" /db_xref="HGNC:HGNC:37177" ORIGIN 1 meddslylrg 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 akpeelngen ayhcgvclqr apasktltlh tsakvlilvl krfsdvtgnk iaknvqypec 301 ldmqpymsqp ntgplvyvly avlvhagwsc hnghyfsyvk aqegqwykmd daevtassit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel 421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllnls sstpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_001278310 474 aa linear PRI 01-JUL-2020 DEFINITION PRAME family member 33 [Homo sapiens]. ACCESSION NP_001278310 VERSION NP_001278310.1 DBSOURCE REFSEQ: accession NM_001291381.1 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 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. Bioinformatics 12 (5), 449-462 (2011) PUBMED 21873635 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 AC244216.2. 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## RNAseq introns :: single sample supports all introns SAMEA2155590, SAMEA2162895 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000437300.2/ ENSP00000492439.1 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 33" /note="PRAME family member 10-like; PRAME family member 33, pseudogene" /calculated_mol_wt=54961 Region 97..124 /region_name="LRR 1, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A0A0G2JMD5.1)" Region 179..203 /region_name="LRR 2, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A0A0G2JMD5.1)" Region 204..230 /region_name="LRR 3, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A0A0G2JMD5.1)" Region 231..262 /region_name="LRR 4, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A0A0G2JMD5.1)" Region 263..291 /region_name="LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A0A0G2JMD5.1)" Region 292..323 /region_name="LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A0A0G2JMD5.1)" Region 324..347 /region_name="LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A0A0G2JMD5.1)" Region 348..375 /region_name="LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A0A0G2JMD5.1)" Region 376..400 /region_name="LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A0A0G2JMD5.1)" CDS 1..474 /gene="PRAMEF33" /gene_synonym="PRAMEF33P" /coded_by="NM_001291381.1:74..1498" /db_xref="CCDS:CCDS85928.1" /db_xref="GeneID:645382" /db_xref="HGNC:HGNC:49193" ORIGIN 1 mslqapsrll elagqsllrn qfltiftlde lprevfplmf meafsmrrfe alklmvqawp 61 flrlplgslm ktphletlqa vlrgldtlva qkvrprrwkl qvldlqdvde nfwtiwsgar 121 vlscspeams krqtvedcpr mgehqplkvf idlclkestl declsylfgw ihyrrglvhl 181 ccskvqnysm ptssfrnlle riypdsiqel evwkkcslnk tgkfapylsq msnlrelfla 241 fgyerelyvs vqwpcipdld spflclyypq mlyikkisni kehlehllry lknplgafif 301 sdayladrdm eclsqypsls qlkelrlihi lmwttnlqpl gallekvaat lktlvlkdcr 361 iqdpqlrvll palshcsqlt tfnfhgnets mnalkdllrh trglsklgle lypaplesld 421 ykghvnweil tpiraelmrt lrevrqpkri ffgpvpcptc gswpsekvdf hlcs // 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" 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_001172035 305 aa linear PRI 01-JUL-2020 DEFINITION PI-PLC X domain-containing protein 2 isoform a [Homo sapiens]. ACCESSION NP_001172035 VERSION NP_001172035.1 DBSOURCE REFSEQ: accession NM_001185106.1 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 305) 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 305) 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 AK056141.1, BC121155.1 and AC117509.9. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a). ##Evidence-Data-START## Transcript exon combination :: BC121155.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144335, SAMEA2146982 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000477665.2/ ENSP00000420686.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..305 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q13.2" Protein 1..305 /product="PI-PLC X domain-containing protein 2 isoform a" /note="PI-PLC X domain-containing protein 2" /calculated_mol_wt=34646 Region 39..291 /region_name="PI-PLCXD1c" /note="Catalytic domain of phosphatidylinositol-specific phospholipase C, X domain containing 1; cd08616" /db_xref="CDD:176555" Site order(57,116,132,162,213,232,234) /site_type="active" /note="putative active site [active]" /db_xref="CDD:176555" Site order(57,132) /site_type="active" /note="catalytic site [active]" /db_xref="CDD:176555" CDS 1..305 /gene="PLCXD2" /coded_by="NM_001185106.1:571..1488" /note="isoform a is encoded by transcript variant 1" /db_xref="CCDS:CCDS54619.1" /db_xref="GeneID:257068" /db_xref="HGNC:HGNC:26462" /db_xref="MIM:617015" ORIGIN 1 mlavrkarrk lrmgticspn psgtktssev cnadwmaslp phlhnlplsn laipgshdsf 61 sywvdekspv gpdqtqaikr larislvkkl mkkwsvtqnl tfreqleagi ryfdlrvssk 121 pgdadqeiyf ihglfgikvw dglmeidsfl tqhpqeiifl dfnhfyamde thhkclvlri 181 qeafgnklcp acsvesltlr tlwekncqvl ifyhcpfykq ypflwpgkki papwanttsv 241 rklilflett lserasrgsf hvsqailtpr vktiarglvg glkntlvhsn rwnshgpsll 301 sqers // LOCUS NP_001156386 439 aa linear PRI 01-JUL-2020 DEFINITION coiled-coil domain-containing protein 166 [Homo sapiens]. ACCESSION NP_001156386 XP_001714064 XP_001714528 XP_001715085 VERSION NP_001156386.1 DBSOURCE REFSEQ: accession NM_001162914.1 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. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC105219.6. On or before Jul 8, 2009 this sequence version replaced XP_001714528.2, XP_001714064.2, XP_001715085.2. 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 :: EG327529.1, EG327530.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000542437.1/ ENSP00000437468.1 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="8" /map="8q24.3" Protein 1..439 /product="coiled-coil domain-containing protein 166" /calculated_mol_wt=48578 Region 72..260 /region_name="DUF4515" /note="Domain of unknown function (DUF4515); pfam14988" /db_xref="CDD:291649" Region 276..336 /region_name="DUF3446" /note="Domain of unknown function (DUF3446); pfam11928" /db_xref="CDD:288757" Region 285..372 /region_name="DUF3432" /note="Domain of unknown function (DUF3432); pfam11914" /db_xref="CDD:288743" CDS 1..439 /gene="CCDC166" /coded_by="NM_001162914.1:1..1320" /db_xref="CCDS:CCDS55280.1" /db_xref="GeneID:100130274" /db_xref="HGNC:HGNC:41910" ORIGIN 1 mapkkkrgps agsqpggaaa agaeqplser aqylqrehal lseqldtcee svdqvlrena 61 fldrealrlr eenrlyasyv saraqrcaka ivrldeqnrv dlaqihwqra elaslyhgre 121 dgvraqllem earaaqmaqq vqelqpykvl qleqlarira lerellhmrv ehtqllhrvk 181 rrfledkaaf erearqrvqs larraereav ralvahtqai kadngrlrqe lllllrrtql 241 lhhtrrqlle qreqlhrehe dtrdlarvhg wlrrgpggpp lwerpafsqp tsrpgslaap 301 ispsraasqt psvvpsraap rassvvpsre asrvpslvls smdsrvpsla tskvgsrmps 361 ltasragsra lslvqslegs gissgssprv ssqdtlrstk sgpkllsgls rdrdpallpp 421 qsedsvnaea aaeaspgra // LOCUS NP_063941 323 aa linear PRI 01-JUL-2020 DEFINITION melanocortin receptor 3 [Homo sapiens]. ACCESSION NP_063941 VERSION NP_063941.3 DBSOURCE REFSEQ: accession NM_019888.3 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 323) AUTHORS Demidowich AP, Parikh VJ, Dedhia N, Branham RE, Madi SA, Marwitz SE, Roberson RB, Uhlman AJ, Levi NJ, Mi SJ, Jun JY, Broadney MM, Brady SM and Yanovski JA. TITLE Associations of the melanocortin 3 receptor C17A + G241A haplotype with body composition and inflammation in African-American adults JOURNAL Ann. Hum. Genet. 83 (5), 355-360 (2019) PUBMED 30937899 REMARK GeneRIF: in African-American adults homozygosity for the MC3R C17A + G241A haplotype was associated with a metabolically unhealthy phenotype, including increased BMI, fat mass, fat mass percentage, and systemic inflammation REFERENCE 2 (residues 1 to 323) AUTHORS Ehtesham S, Qasim A and Meyre D. TITLE Loss-of-function mutations in the melanocortin-3 receptor gene confer risk for human obesity: A systematic review and meta-analysis JOURNAL Obes Rev 20 (8), 1085-1092 (2019) PUBMED 31090190 REMARK GeneRIF: positive association between rare heterozygous coding partial/complete loss-of-function mutations and obesity in children and adults of European, North African, and Asian ancestries [meta-analysis] REFERENCE 3 (residues 1 to 323) AUTHORS Hepsen S, Cakal E, Karakose M, Eyerci N, Saat H, Beysel S, Oztekin S, Pinarli F and Parlak M. TITLE Melanocortin 3 receptor gene polymorphism is associated with polycystic ovary syndrome in Turkish population JOURNAL Gynecol. Endocrinol. 35 (8), 685-690 (2019) PUBMED 30784330 REMARK GeneRIF: MC3R gene rs 3746619 polymorphism was found associated with polycystic ovary syndrome in the Turkish population and may make a contribution to the genetic baseline of the disease. REFERENCE 4 (residues 1 to 323) AUTHORS Tao YX and Segaloff DL. TITLE Functional characterization of melanocortin-3 receptor variants identify a loss-of-function mutation involving an amino acid critical for G protein-coupled receptor activation JOURNAL J. Clin. Endocrinol. Metab. 89 (8), 3936-3942 (2004) PUBMED 15292330 REMARK GeneRIF: MC3R mutation might be genetic factor that confers susceptibility to obesity, likely due to haploinsufficiency. We identify a residue that is critical for activation of G protein-coupled receptors. REFERENCE 5 (residues 1 to 323) AUTHORS Schioth HB, Petersson S, Muceniece R, Szardenings M and Wikberg JE. TITLE Deletions of the N-terminal regions of the human melanocortin receptors JOURNAL FEBS Lett. 410 (2-3), 223-228 (1997) PUBMED 9237634 REFERENCE 6 (residues 1 to 323) AUTHORS Schioth HB, Muceniece R, Wikberg JE and Szardenings M. TITLE Alternative translation initiation codon for the human melanocortin MC3 receptor does not affect the ligand binding JOURNAL Eur. J. Pharmacol. 314 (3), 381-384 (1996) PUBMED 8957262 REFERENCE 7 (residues 1 to 323) AUTHORS Magenis RE, Smith L, Nadeau JH, Johnson KR, Mountjoy KG and Cone RD. TITLE Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human JOURNAL Mamm. Genome 5 (8), 503-508 (1994) PUBMED 7949735 REFERENCE 8 (residues 1 to 323) AUTHORS Konda Y, Gantz I, DelValle J, Shimoto Y, Miwa H and Yamada T. TITLE Interaction of dual intracellular signaling pathways activated by the melanocortin-3 receptor JOURNAL J. Biol. Chem. 269 (18), 13162-13166 (1994) PUBMED 8175743 REFERENCE 9 (residues 1 to 323) AUTHORS Gantz I, Tashiro T, Barcroft C, Konda Y, Shimoto Y, Miwa H, Glover T, Munzert G and Yamada T. TITLE Localization of the genes encoding the melanocortin-2 (adrenocorticotropic hormone) and melanocortin-3 receptors to chromosomes 18p11.2 and 20q13.2-q13.3 by fluorescence in situ hybridization JOURNAL Genomics 18 (1), 166-167 (1993) PUBMED 8276410 REFERENCE 10 (residues 1 to 323) AUTHORS Gantz I, Konda Y, Tashiro T, Shimoto Y, Miwa H, Munzert G, Watson SJ, DelValle J and Yamada T. TITLE Molecular cloning of a novel melanocortin receptor JOURNAL J. Biol. Chem. 268 (11), 8246-8250 (1993) PUBMED 8463333 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC069105.1. This sequence is a reference standard in the RefSeqGene project. On Mar 22, 2008 this sequence version replaced NP_063941.2. Summary: This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene maps to the same region as the locus for benign neonatal epilepsy. Mice deficient for this gene have increased fat mass despite decreased food intake, suggesting a role for this gene product in the regulation of energy homeostasis. Mutations in this gene are associated with a susceptibility to obesity in humans. [provided by RefSeq, Jul 2008]. Sequence Note: A downstream start codon is selected for this RefSeq based on conservation with homologs and for consistency with other family members, including the human melanocortin 4 and melanocortin 5 receptors. The use of an alternative upstream start codon, which is specific to primate species, would increase the protein length from 323 aa to 360 aa. This longer protein is referred to in the literature, including PMIDs 15292330 and 8463333. Publication Note: This RefSeq record includes 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 :: BC069105.1, BC069599.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: lack of evidence for use of upstream AUG MANE Ensembl match :: ENST00000243911.2/ ENSP00000243911.2 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="20" /map="20q13.2" Protein 1..323 /product="melanocortin receptor 3" /note="obesity quantitative trait locus" /calculated_mol_wt=35912 Site 2 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P41968.3)" Site 16 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P41968.3)" Site 28 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P41968.3)" Site 38..63 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41968.3)" Region 45..>170 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 55..299 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 76..100 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41968.3)" Site 119..140 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41968.3)" Site 161..181 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41968.3)" Site 187..210 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41968.3)" Site 246..268 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41968.3)" Site 278..301 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P41968.3)" CDS 1..323 /gene="MC3R" /gene_synonym="BMIQ9; MC3; MC3-R; OB20; OQTL" /coded_by="NM_019888.3:113..1084" /db_xref="CCDS:CCDS13449.2" /db_xref="GeneID:4159" /db_xref="HGNC:HGNC:6931" /db_xref="MIM:155540" ORIGIN 1 mnascclpsv qptlpngseh lqapffsnqs ssafceqvfi kpevflslgi vsllenilvi 61 lavvrngnlh spmyfflcsl avadmlvsvs naletimiai vhsdyltfed qfiqhmdnif 121 dsmicislva sicnllaiav dryvtifyal ryhsimtvrk altlivaiwv ccgvcgvvfi 181 vyseskmviv clitmffamm llmgtlyvhm flfarlhvkr iaalppadgv apqqhscmkg 241 avtitillgv fifcwapffl hlvliitcpt npycicytah fntylvlimc nsvidpliya 301 frslelrntf reilcgcngm nlg // LOCUS NP_001243782 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin carboxyl-terminal hydrolase 17-like protein 12 [Homo sapiens]. ACCESSION NP_001243782 XP_002342473 VERSION NP_001243782.1 DBSOURCE REFSEQ: accession NM_001256853.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC108519.4. On Mar 2, 2012 this sequence version replaced XP_002342473.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000415041.1/ ENSP00000389443.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin carboxyl-terminal hydrolase 17-like protein 12" /EC_number="3.4.19.12" /calculated_mol_wt=59556 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L12" /coded_by="NM_001256853.1:1..1593" /db_xref="CCDS:CCDS59456.1" /db_xref="GeneID:100287205" /db_xref="HGNC:HGNC:44440" ORIGIN 1 meedslylgg ewqfnhfskl tssrpdaafa eiqrtslpek splscetrvd lcddlapvar 61 qlapreklpl snrrpaavga glqnmgntcy vnaslqclty tpplanymls rehsqtchrh 121 kgcmlctmqa hitralhnpg hviqpsqala agfhrgkqed aheflmftvd amkkaclpgh 181 kqvdhhskdt tlihqifggy wrsqikclhc hgisdtfdpy ldialdiqaa qsvqqaleql 241 vkpeelngen ayhcgvclqr apaskmltll tsakvlilvl krfsdvtgnk iaknvqypec 301 ldmqpymsqp ntgplvyvly avlvhagwsc hnghyfsyvk aqegqwykmd daevtassit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel 421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllkls sttpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_001001963 312 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 2L8 [Homo sapiens]. ACCESSION NP_001001963 VERSION NP_001001963.1 DBSOURCE REFSEQ: accession NM_001001963.1 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 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 312) 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 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 BK004459.1. 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. 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. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000623922.1/ ENSP00000485287.1 polymorphic pseudogene :: PMID: 22908908 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 2L8" /note="olfactory receptor OR1-46" /calculated_mol_wt=35313 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGY9.1)" Site 25..48 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGY9.1)" Region 36..303 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 40..289 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 57..78 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGY9.1)" Site 88 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGY9.1)" Site 100..119 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGY9.1)" Site 139..157 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGY9.1)" Site 195..218 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGY9.1)" Site 236..258 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGY9.1)" Site 272..291 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGY9.1)" CDS 1..312 /gene="OR2L8" /coded_by="NM_001001963.1:1..939" /db_xref="GeneID:391190" /db_xref="HGNC:HGNC:15014" ORIGIN 1 menynqtstd fillglfpps ridlfffili vfiflmalig nlsmillifl dthlhtpmyf 61 llsqlslidl nyistivpkm asdflhgnks isftgcgiqs ffflalggae alllasmayd 121 ryiaicfplh ylirmskrvc vlmitgswii gsinacahtv yvlhipycrs rainhffcdv 181 pamvtlacmd twvyegtvfl satiflvfpf igiscsygqv lfavyhmksa egrkkayltc 241 sthltvvtfy yapfvytylr prslrspted kvlavfytil tpmlnpiiys lrnkevmgal 301 trvsqricsv km // LOCUS NP_001278464 189 aa linear PRI 01-JUL-2020 DEFINITION cancer/testis antigen family 45 member A8 [Homo sapiens]. ACCESSION NP_001278464 XP_006724861 VERSION NP_001278464.1 DBSOURCE REFSEQ: accession NM_001291535.1 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC240441.2. On Apr 19, 2014 this sequence version replaced XP_006724861.1. 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 :: ENST00000611660.5/ ENSP00000481184.1 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="X" /map="Xq26.3" Protein 1..189 /product="cancer/testis antigen family 45 member A8" /note="cancer/testis antigen 45A8; Cancer/testis antigen family 45 member A9; Cancer/testis antigen 45A9; Cancer/testis antigen family 45 member A2; Cancer/testis antigen 45-2; Cancer/testis antigen 45A2" /calculated_mol_wt=21232 Region 122..183 /region_name="INT_SG_DDX_CT_C" /note="INTS6/SAGE1/DDX26B/CT45 C-terminus; pfam15300" /db_xref="CDD:291946" CDS 1..189 /gene="CT45A8" /gene_synonym="CT45-2; CT45A2; CT45A9" /coded_by="NM_001291535.1:246..815" /db_xref="CCDS:CCDS76033.1" /db_xref="GeneID:102723737" /db_xref="HGNC:HGNC:51261" ORIGIN 1 mtdktekvav dpetvfkrpr ecdspsyqkr qrmallarkq gagdsliags amskekklmt 61 ghaippsqld sqiddftgfs kdrmmqkpgs napvggnvts sfsgddlecr etafspksqq 121 einadikrql vkelrcvgqk yekifemleg vqgptavrkr ffesiikeaa rcmrrdfvkh 181 lkkklkrmi // LOCUS NP_001243789 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin carboxyl-terminal hydrolase 17-like protein 19 [Homo sapiens]. ACCESSION NP_001243789 XP_002342477 VERSION NP_001243789.1 DBSOURCE REFSEQ: accession NM_001256860.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC108519.4. On Mar 3, 2012 this sequence version replaced XP_002342477.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000515566.1/ ENSP00000425582.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin carboxyl-terminal hydrolase 17-like protein 19" /EC_number="3.4.19.12" /calculated_mol_wt=59527 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L19" /coded_by="NM_001256860.1:1..1593" /db_xref="CCDS:CCDS59460.1" /db_xref="GeneID:100287404" /db_xref="HGNC:HGNC:44447" ORIGIN 1 meedslylgg 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 ldmqpymsqt ntgplvyvly avlvhagwsc hnghyfsyvk aqegqwykmd daevtassit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel 421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllkls sttpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_001229255 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin specific peptidase 17 like family member 25 [Homo sapiens]. ACCESSION NP_001229255 XP_001130417 VERSION NP_001229255.1 DBSOURCE REFSEQ: accession NM_001242326.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC116655.7. On May 28, 2011 this sequence version replaced XP_001130417.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000509271.1/ ENSP00000422097.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin specific peptidase 17 like family member 25" /calculated_mol_wt=59580 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L25" /coded_by="NM_001242326.1:1..1593" /db_xref="CCDS:CCDS59465.1" /db_xref="GeneID:728373" /db_xref="HGNC:HGNC:44452" ORIGIN 1 meddslylrg 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 daevtassit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel 421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllnls sstpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_001229242 346 aa linear PRI 01-JUL-2020 DEFINITION transmembrane protein 191B [Homo sapiens]. ACCESSION NP_001229242 XP_001128423 XP_003119891 XP_003119892 XP_003119893 XP_003121051 XP_003121052 XP_003121053 XP_003121054 XP_003121055 XP_003960960 VERSION NP_001229242.1 DBSOURCE REFSEQ: accession NM_001242313.1 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 346) 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 AC023490.5. On or before Aug 31, 2013 this sequence version replaced XP_003960960.1, XP_003121052.1, XP_003121051.1, XP_003121055.1, XP_003121053.1, XP_003121054.1, XP_001128423.3, XP_003119892.1, XP_003119891.1, XP_003119893.1. 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## MANE Ensembl match :: ENST00000612978.5/ ENSP00000481358.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..346 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="22" /map="22q11.21" Protein 1..346 /product="transmembrane protein 191B" /calculated_mol_wt=38934 Region 242..346 /region_name="TMEM191C" /note="TMEM191C family; pfam15194" /db_xref="CDD:291850" Site 282..302 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7N4.2)" CDS 1..346 /gene="TMEM191B" /coded_by="NM_001242313.1:180..1220" /db_xref="CCDS:CCDS74816.1" /db_xref="GeneID:728229" /db_xref="HGNC:HGNC:33600" ORIGIN 1 mcratlglpl ppiviqparr slppivtpas rrlgprggrh lgsvstamaa tqelllqlqk 61 dnrdgrqrkq eleklmrgle aeseslnqrl qdlserersl lrrrsqaaqp lqgeareaar 121 eraervrrrl eeaerhkedl eqhsrqlqeq weelssqlfy ggepqsqkst eqqlaaqlvt 181 lqnelelaet kcalqeeklq qdalqtaeaw aifqeqtvvl qvrphsdakv ppaspppdlg 241 rcdgqlrgvq ysteslmeem aradretrlf ggpralairr cvlgalqvll tlpllflgls 301 llwtvlldpg avsawlwslt settlrrlry tlspllelra ngllpt // LOCUS NP_001004465 316 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 10H4 [Homo sapiens]. ACCESSION NP_001004465 XP_065153 VERSION NP_001004465.1 DBSOURCE REFSEQ: accession NM_001004465.1 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 316) 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 316) 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 AC011517.7. On Sep 18, 2004 this sequence version replaced XP_065153.1. 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 :: ENST00000322107.1/ ENSP00000318834.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..316 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.12" Protein 1..316 /product="olfactory receptor 10H4" /note="olfactory receptor OR19-28" /calculated_mol_wt=35634 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGA5.1)" Site 27..47 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGA5.1)" Region 42..310 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Site 56..76 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGA5.1)" Site 101..121 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGA5.1)" Site 141..161 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGA5.1)" Site 199..219 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGA5.1)" Site 240..260 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGA5.1)" Site 274..294 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGA5.1)" CDS 1..316 /gene="OR10H4" /gene_synonym="OR19-28" /coded_by="NM_001004465.1:1..951" /db_xref="CCDS:CCDS32941.1" /db_xref="GeneID:126541" /db_xref="HGNC:HGNC:15388" ORIGIN 1 mpsqnysiis efnlfgfsaf pqhllpilfl lyllmflftl lgnllimati wiehrlhtpm 61 ylflctlsvs eilftvaitp rmladllsth hsitfvacan qmffsfmfgf thsflllvmg 121 ydryvaichp lrynvlmspr dcahlvactw aggsvmgmmv ttivfhltfc gsnvihhffc 181 hvlsllklac enktssvimg vmlvcvtali gclfliilsy vfivaailri psaegrhktf 241 stcvshltvv vthysfasfi ylkpkglhsm ysdalmatty tvftpflspi ifslrnkelk 301 nainknfyrk fcppss // LOCUS NP_001116859 128 aa linear PRI 01-JUL-2020 DEFINITION keratin-associated protein 2-1 [Homo sapiens]. ACCESSION NP_001116859 XP_001725816 VERSION NP_001116859.1 DBSOURCE REFSEQ: accession NM_001123387.1 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 128) 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 AC007455.7. On Apr 18, 2008 this sequence version replaced XP_001725816.1. 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 :: ENST00000391419.3/ ENSP00000375238.3 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="17" /map="17q21.2" Protein 1..128 /product="keratin-associated protein 2-1" /note="keratin associated protein KRTAP2.1A; keratin-associated protein 2.1; high sulfur keratin-associated protein 2.1" /calculated_mol_wt=13383 Region 2..128 /region_name="Keratin_B2" /note="Keratin, high sulfur B2 protein; pfam01500" /db_xref="CDD:279797" Region 5..112 /region_name="10 X 5 AA repeats of C-C-[CDPQRWG]-[APRS]-[CIPSTVD]" /note="propagated from UniProtKB/Swiss-Prot (Q9BYU5.2)" Region 73..117 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" CDS 1..128 /gene="KRTAP2-1" /gene_synonym="KAP2.1A; KRTAP2.1A" /coded_by="NM_001123387.1:50..436" /db_xref="CCDS:CCDS42325.1" /db_xref="GeneID:81872" /db_xref="HGNC:HGNC:16775" ORIGIN 1 mtgsccgstf sslsygggcc qpcccrdpcc crpvtcqttv crpvtcvprc trpicepcrr 61 pvccdpcslq egccrpitcc pssctavvcr pccwattccq pvsvqspccr ppcgqptpcs 121 ttcrtssc // LOCUS NP_001177739 658 aa linear PRI 01-JUL-2020 DEFINITION arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9 [Homo sapiens]. ACCESSION NP_001177739 XP_001716862 VERSION NP_001177739.1 DBSOURCE REFSEQ: accession NM_001190810.1 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 658) 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 BC171845.1 and BC171847.1. On Jul 1, 2010 this sequence version replaced XP_001716862.2. ##Evidence-Data-START## Transcript exon combination :: BC171845.1, SRR1803614.362149.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000452145.6/ ENSP00000392206.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..658 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10q11.22" Protein 1..658 /product="arf-GAP with GTPase, ANK repeat and PH domain-containing protein 9" /note="centaurin-gamma-like family member 6" /calculated_mol_wt=72619 Region 280..444 /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 283..442 /region_name="PH" /note="PH domain; pfam00169" /db_xref="CDD:278594" Region 466..580 /region_name="ArfGap" /note="Putative GTPase activating protein for Arf; pfam01412" /db_xref="CDD:279720" Region 591..621 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region <596..643 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 623..>643 /region_name="Ank" /note="Ankyrin repeat; pfam00023" /db_xref="CDD:278452" CDS 1..658 /gene="AGAP9" /gene_synonym="AGAP-9; bA301J7.2; CTGLF6" /coded_by="NM_001190810.1:113..2089" /db_xref="CCDS:CCDS73125.1" /db_xref="GeneID:642517" /db_xref="HGNC:HGNC:23463" ORIGIN 1 mgniltcrvh psvslefdqq qgsvcpsese iyeagaedrm agapmaaavq paevtvevge 61 dlhmhqvrdr empealefnl sanpeastif qrnsqtdale fnssanpeas tifqrnsqtd 121 vveirrsnct nhvsterfsq qysscstifl ddstaiqhyl tmtiisvtle iphhitqrda 181 drslsipdeq lhsfavstvh imkkrngggs lnnysssipp tpstsqedpq fsvpptantp 241 tpvckrsmrw snlftsekgs dpdkerkape nhadtigsgr aipikqgmll krsgkwlktw 301 kkkyvtlcsn gvltyysslg dymknihkke idlrtstikv pgkwpslats acapisssks 361 nglskdmdtg lgdsicfspg issttspkln pppsphankk khlkkkstnn fmivsatgqt 421 whfeattyee rdawvqaiqs qilaslqsck ssksksqlts qseamalqsi qnmrgnahcv 481 dcetqnpkwa slnlgvlmci ecsgihrsfg trlsrvrsle lddwpvelrk vmssignela 541 nsiwegssqg qtkpsikstr eekewwirsk yeeklflapl pctelslgqq llrattdedl 601 qtailllahg sreevnetcg egdgctalhl acrkgnvvle qlltgwtswp emptgtqr // LOCUS NP_001005280 316 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 10A7 [Homo sapiens]. ACCESSION NP_001005280 VERSION NP_001005280.1 DBSOURCE REFSEQ: accession NM_001005280.1 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 316) AUTHORS Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and Mollon JD. TITLE Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia JOURNAL Genes Brain Behav. 13 (2), 144-151 (2014) PUBMED 24152035 REFERENCE 2 (residues 1 to 316) 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 316) 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 AC090048.7. 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 :: ENST00000326258.1/ ENSP00000326718.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..316 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q13.2" Protein 1..316 /product="olfactory receptor 10A7" /note="olfactory receptor OR12-6" /calculated_mol_wt=35564 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGE5.1)" Site 26..46 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE5.1)" Region 31..308 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 41..290 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 55..75 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE5.1)" Site 100..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE5.1)" Site 140..160 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE5.1)" Site 198..217 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE5.1)" Site 238..258 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE5.1)" Site 272..292 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE5.1)" CDS 1..316 /gene="OR10A7" /gene_synonym="OR12-6" /coded_by="NM_001005280.1:1..951" /db_xref="CCDS:CCDS31815.1" /db_xref="GeneID:121364" /db_xref="HGNC:HGNC:15329" ORIGIN 1 micenhtrvt efillgftnn pemqvslfif flaiytvtll gnflivtvts vdlalqtpmy 61 fflqnlslle vcftlvmvpk mlvdlvsprk iisfvgcgtq myfffffgss ecfllsmmay 121 drfvaicnpl hysvimnrsl clwmaigswm sgvpvsmlqt awmmalpfcg pnavdhffcd 181 gppvlklvtv dttmyemqal astllfimfp fclilvsytr iiitilrmss atgrqkafst 241 csshlivvsl fygtasltyl rpksnqspes kklvslsytv itpmlnpiiy glrnnevkga 301 vkrtitqkvl qkldvf // LOCUS NP_001350509 213 aa linear PRI 01-JUL-2020 DEFINITION uncharacterized protein C10orf95 [Homo sapiens]. ACCESSION NP_001350509 VERSION NP_001350509.1 DBSOURCE REFSEQ: accession NM_001363580.1 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 213) AUTHORS Harrison KD, Park EJ, Gao N, Kuo A, Rush JS, Waechter CJ, Lehrman MA and Sessa WC. TITLE Nogo-B receptor is necessary for cellular dolichol biosynthesis and protein N-glycosylation JOURNAL EMBO J. 30 (12), 2490-2500 (2011) PUBMED 21572394 REMARK Publication Status: Online-Only COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK024342.1 and AL121928.13. ##Evidence-Data-START## Transcript exon combination :: AK024342.1, BC126459.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000625129.1/ ENSP00000489684.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..213 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10q24.32" Protein 1..213 /product="uncharacterized protein C10orf95" /calculated_mol_wt=23730 CDS 1..213 /gene="C10orf95" /coded_by="NM_001363580.1:213..854" /db_xref="GeneID:79946" /db_xref="HGNC:HGNC:25880" ORIGIN 1 myvyswpppk qgvwppppql ltctylaapl llppvqahsf rsrpgslhag ewaapreyhr 61 fygpaappea appwwacppa yattlrrpca aagisglslq apaavaeswa pwpeggslqt 121 elrwgrvera rgpplqlpdf vrrelrrayg typradvrvt qrrgqfllqa tprvlepdhr 181 vewrvrrrpd sgdssparea aergrprksk gls // LOCUS NP_001004480 330 aa linear PRI 01-JUL-2020 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)" Site 44..64 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1)" Region 59..323 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 59..308 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 73..93 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1)" Site 118..138 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1)" Site 158..178 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1)" Site 216..235 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1)" Site 256..276 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGC7.1)" 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_001342451 59 aa linear PRI 01-JUL-2020 DEFINITION embryonic testis differentiation homolog A [Homo sapiens]. ACCESSION NP_001342451 VERSION NP_001342451.1 DBSOURCE REFSEQ: accession NM_001355522.1 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. 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 AC234771.4. 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 :: SRR5189667.2170.1, SRR5189667.284688.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000427686.3/ ENSP00000490055.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..59 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq26.3" Protein 1..59 /product="embryonic testis differentiation homolog A" /calculated_mol_wt=6860 CDS 1..59 /gene="ETDA" /coded_by="NM_001355522.1:326..505" /db_xref="CCDS:CCDS87782.1" /db_xref="GeneID:101928677" /db_xref="HGNC:HGNC:53449" ORIGIN 1 mdkevpkgsp repalnikks dksfkrkkpt envliflinr qlgrhrsdid lsrwvwmls // LOCUS NP_001005183 312 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 6C76 [Homo sapiens]. ACCESSION NP_001005183 XP_372463 VERSION NP_001005183.1 DBSOURCE REFSEQ: accession NM_001005183.1 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 Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and Mollon JD. TITLE Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia JOURNAL Genes Brain Behav. 13 (2), 144-151 (2014) PUBMED 24152035 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AC125816.8. On Sep 23, 2004 this sequence version replaced XP_372463.1. 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 :: ENST00000328314.3/ ENSP00000328402.3 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="12" /map="12q13.2" Protein 1..312 /product="olfactory receptor 6C76" /calculated_mol_wt=34988 Site 3 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A6NM76.1)" Site 24..44 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NM76.1)" Region 31..302 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 39..287 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 58..80 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NM76.1)" Site 95..115 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NM76.1)" Site 143..163 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NM76.1)" Site 196..216 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NM76.1)" Site 239..259 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NM76.1)" Site 268..288 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NM76.1)" CDS 1..312 /gene="OR6C76" /coded_by="NM_001005183.1:1..939" /db_xref="CCDS:CCDS31823.1" /db_xref="GeneID:390326" /db_xref="HGNC:HGNC:31305" ORIGIN 1 mknrtsvtdf illgltdnpq lqvvifsflf ltyvlsvtgn ltiisltlld shlktpmyff 61 lrnfsleisf tsvcnprfli siltgdksis ynacaaqlff fiflgsteff llasmsydcy 121 vaickplhyt timsdricyq liisswlagf lvifpplamg lqldfcdsnv idhftcdsap 181 llqisctdts tlelmsfila lftlistlil vilsytyiir tilripsaqq rkkafstcss 241 hvivvsisyg scifmyvkts akegvaltkg vailntsvap mlnpfiytlr nqqvkqafkd 301 vlrkishkkk kh // LOCUS NP_001087199 578 aa linear PRI 01-JUL-2020 DEFINITION dystrotelin [Homo sapiens]. ACCESSION NP_001087199 VERSION NP_001087199.1 DBSOURCE REFSEQ: accession NM_001093730.1 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 578) AUTHORS Jin H, Tan S, Hermanowski J, Bohm S, Pacheco S, McCauley JM, Greener MJ, Hinits Y, Hughes SM, Sharpe PT and Roberts RG. TITLE The dystrotelin, dystrophin and dystrobrevin superfamily: new paralogues and old isoforms JOURNAL BMC Genomics 8, 19 (2007) PUBMED 17233888 REMARK Publication Status: Online-Only COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DQ516347.1. Summary: This gene belongs to the dystrophin superfamily, which is characterized by the presence of four EF-hand motifs and a ZZ-domain. It is a likely ortholog of the Drosophila 'discontinuous actin hexagon' gene. It is noteworthy that the coding region of this gene lacks two coding exons that are found in the mouse ortholog. Human transcripts including these two exons are subject to nonsense-mediated transcript decay (NMD). On the other hand, transcripts skipping the two coding exons are expressed at very low levels. While this gene maintains an intact CDS, it may be an evolving pseudogene. However, after a discussion about this gene within the RefSeq group, as well as in the consensus coding sequence (CCDS) collaboration, it was decided to keep it as a protein-coding gene in the RefSeq, Ensembl-GENCODE and the CCDS sets. [provided by RefSeq, Jul 2019]. ##Evidence-Data-START## Transcript exon combination :: DQ516347.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2148093, SAMEA2151119 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000452335.2/ ENSP00000396593.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..578 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q33.3" Protein 1..578 /product="dystrotelin" /calculated_mol_wt=65189 Region 9..118 /region_name="EF-hand_2" /note="EF hand; pfam09068" /db_xref="CDD:286194" Region 125..217 /region_name="EF-hand_3" /note="EF-hand; pfam09069" /db_xref="CDD:286195" Region 226..274 /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(228,231,243,246,252,255,265,269) /site_type="other" /note="Zinc-binding sites [ion binding]" /db_xref="CDD:239074" Site order(228,231,252,255) /site_type="other" /note="zinc cluster 1 [ion binding]" /db_xref="CDD:239074" Site order(229,240,242,248,250) /site_type="other" /note="putative charged binding surface" /db_xref="CDD:239074" Site order(241,256,271,274) /site_type="other" /note="putative hydrophobic binding surface" /db_xref="CDD:239074" Site order(243,246,265,269) /site_type="other" /note="zinc cluster 2 [ion binding]" /db_xref="CDD:239074" CDS 1..578 /gene="DYTN" /coded_by="NM_001093730.1:118..1854" /db_xref="CCDS:CCDS46502.1" /db_xref="GeneID:391475" /db_xref="HGNC:HGNC:23279" /db_xref="MIM:618510" ORIGIN 1 mdpdkqdaln siensiyrta fklqsvqtlc qldlidssli qqvllrpsfw earkhslsvq 61 qlsqalqelf qkareenpgq vhprapeltl sllttmynsk gtgflqlmpa aaalitlsgd 121 splskyralf qlyaensrgg ydsgprmtrr vlrklltdlq qiptfvgesr alcpvesatr 181 scfqgvlspa ikeekflswv qseppillwl ptchrlsaae rvthparctl crtfpitglr 241 yrclkclnfd icqmcflsgl hskshqkshp viehciqmsa mqntkllfrt lrnnllqgrc 301 rkkeaarrqq lldqvnpkgv phhaqarllk kqlnqykdkl qaiytsqeer icrfetrihk 361 lktnqdslwt klqqirrdlq arlqppgpss ssfqnvgnkv dhsstekvpk ggdylqikna 421 tedastgepl pkldevdrsh rshtnaehal rnpespettl hstraqsqtq kmpqkvisal 481 psyqeglkqd ipkmvpaems spalaavekk eagnikerkd eleeeelqel lsklmdafnl 541 etpsgpessv nmdlysgaqr vcrafsalvd qialpnlk // LOCUS NP_001032757 70 aa linear PRI 01-JUL-2020 DEFINITION beta-defensin 107 precursor [Homo sapiens]. ACCESSION NP_001032757 VERSION NP_001032757.2 DBSOURCE REFSEQ: accession NM_001037668.1 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 70) AUTHORS Jones EA, Kananurak A, Bevins CL, Hollox EJ and Bakaletz LO. TITLE Copy number variation of the beta defensin gene cluster on chromosome 8p influences the bacterial microbiota within the nasopharynx of otitis-prone children JOURNAL PLoS ONE 9 (5), e98269 (2014) PUBMED 24867293 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 70) AUTHORS Taudien S, Huse K, Groth M and Platzer M. TITLE Narrowing down the distal border of the copy number variable beta-defensin gene cluster on human 8p23 JOURNAL BMC Res Notes 7, 93 (2014) PUBMED 24552181 REMARK GeneRIF: Data indicate the copy number variation (CNV) of beta-defensin gene cluster for six indels between ~1 kb distal of DEFB108P and 10 kb proximal of DEFB107. Publication Status: Online-Only REFERENCE 3 (residues 1 to 70) AUTHORS Patil AA, Cai Y, Sang Y, Blecha F and Zhang G. TITLE Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract JOURNAL Physiol. Genomics 23 (1), 5-17 (2005) PUBMED 16033865 REMARK GeneRIF: This protein is thought to have antimicrobial activity. REFERENCE 4 (residues 1 to 70) AUTHORS Taudien S, Galgoczy P, Huse K, Reichwald K, Schilhabel M, Szafranski K, Shimizu A, Asakawa S, Frankish A, Loncarevic IF, Shimizu N, Siddiqui R and Platzer M. TITLE Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence JOURNAL BMC Genomics 5 (1), 92 (2004) PUBMED 15588320 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 70) AUTHORS Boniotto M, Ventura M, Eskdale J, Crovella S and Gallagher G. TITLE Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution JOURNAL Genet. Test. 8 (3), 325-327 (2004) PUBMED 15727258 REFERENCE 6 (residues 1 to 70) AUTHORS Hollox EJ, Armour JA and Barber JC. TITLE Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster JOURNAL Am. J. Hum. Genet. 73 (3), 591-600 (2003) PUBMED 12916016 REFERENCE 7 (residues 1 to 70) AUTHORS Semple CA, Rolfe M and Dorin JR. TITLE Duplication and selection in the evolution of primate beta-defensin genes JOURNAL Genome Biol. 4 (5), R31 (2003) PUBMED 12734011 REFERENCE 8 (residues 1 to 70) AUTHORS Yamaguchi Y, Nagase T, Makita R, Fukuhara S, Tomita T, Tominaga T, Kurihara H and Ouchi Y. TITLE Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice JOURNAL J. Immunol. 169 (5), 2516-2523 (2002) PUBMED 12193721 REFERENCE 9 (residues 1 to 70) 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] COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DQ119826.1. On May 30, 2006 this sequence version replaced NP_001032757.1. Summary: Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]. ##Evidence-Data-START## Transcript exon combination :: DQ119826.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000335021.2/ ENSP00000334681.2 Protein has antimicrobial activity :: PMID: 16033865 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..70 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="8" /map="8p23.1" Protein 1..70 /product="beta-defensin 107 precursor" /note="defensin, beta 7; beta-defensin 107; beta-defensin 7" /calculated_mol_wt=4986 sig_peptide 1..26 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2878 mat_peptide 27..70 /product="beta-defensin 107" /experiment="DESCRIPTION:antimicrobial peptide[PMID: 16033865]" /calculated_mol_wt=4986 CDS 1..70 /gene="DEFB107A" /gene_synonym="BD-7; DEFB-7; DEFB107" /coded_by="NM_001037668.1:89..301" /db_xref="CCDS:CCDS43699.1" /db_xref="GeneID:245910" /db_xref="HGNC:HGNC:18086" ORIGIN 1 mpgamkifvf ilaalillaq ifqartaihr aliskrmegh ceaecltfev kiggcraela 61 pfccknrkkh // LOCUS NP_001351659 566 aa linear PRI 01-JUL-2020 DEFINITION zinc finger protein 69 isoform 3 [Homo sapiens]. ACCESSION NP_001351659 VERSION NP_001351659.1 DBSOURCE REFSEQ: accession NM_001364730.1 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 566) 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 and DA647393.1. 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 :: BG393583.1, DA694167.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000429654.7/ ENSP00000402985.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..566 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.2" Protein 1..566 /product="zinc finger protein 69 isoform 3" /note="ZNF3" /calculated_mol_wt=65631 Region 23..64 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:307490" Region 166..186 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(166,169,182,186) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" 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 219..>537 /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" Site order(227,229,231,233..234,237..238,241,255,257,261..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 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" Region 306..326 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(306,309,322,326) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 334..354 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(334,337,350,354) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 362..382 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(362,365,378,382) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(367,369,371,373..374,377..378,381,395,397,401..402, 405..406,409,423,425,427,429..430,433..434,437) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /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" Region 418..438 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(418,421,434,438) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 446..465 /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(480,483,496,500) /site_type="other" /note="Zn binding site [ion binding]" /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" Site order(508,511,524,528) /site_type="other" /note="Zn binding site [ion binding]" /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" CDS 1..566 /gene="ZNF69" /gene_synonym="Cos5; hZNF3" /coded_by="NM_001364730.1:143..1843" /note="isoform 3 is encoded by transcript variant 3" /db_xref="GeneID:7620" /db_xref="HGNC:HGNC:13138" /db_xref="MIM:194543" ORIGIN 1 mpccshrrcr edpgtsesqe mdpvafddva vnftqeewal ldisqrklyk evmletfrnl 61 tsvgkswkdq nieyeyqnpr rnfrsliekk vneikddshc getftqvpdd rlnfqekkas 121 peikscdsfv cgevglgnss fnmnirgdig hkayeyqeyg pkpckcqqpk kafryhpsfr 181 tpqrdhtgek pyackecgkt fishssiqrh vvmhsgdgpy kckfcgkafh clslyliher 241 ihtgekpyec kqcgksfsys atlriherth tgekpyecqq cgkafhsprc yrrherihtg 301 ekayqckecg kaftcpqyvr iherthsrkk pyectqcgka lssltsfqth irmhsgerpy 361 eckicgkgfc sansfqrhek thsgekpykc kqcgkafihs sslryherih tgekpyeckq 421 cgkafrsssh lqlhgrthtg ekpyecqecg kafrsmknlq shertqthvr ihsgerpykc 481 klcgkgfycp kslqrhekth tgeklyeckq cgeafsssss fryherthtg ekpykckqcg 541 kafraasvlr mhgrthpedk pyeckq // LOCUS NP_001093321 474 aa linear PRI 01-JUL-2020 DEFINITION PRAME family member 17 [Homo sapiens]. ACCESSION NP_001093321 XP_943513 VERSION NP_001093321.1 DBSOURCE REFSEQ: accession NM_001099851.3 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 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. Bioinformatics 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 BC146858.1 and AC243961.3. On Sep 24, 2007 this sequence version replaced XP_943513.2. ##Evidence-Data-START## Transcript exon combination :: BC144662.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000376098.4/ ENSP00000365266.3 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 17" /calculated_mol_wt=54638 Region 97..124 /region_name="LRR 1, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VTA0.1)" Region 179..203 /region_name="LRR 2, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VTA0.1)" Region 204..230 /region_name="LRR 3, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VTA0.1)" Region 231..265 /region_name="LRR 4, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VTA0.1)" Region 266..291 /region_name="LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VTA0.1)" Region 292..323 /region_name="LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VTA0.1)" Region 324..342 /region_name="LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VTA0.1)" Region 348..375 /region_name="LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VTA0.1)" Region 376..400 /region_name="LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VTA0.1)" CDS 1..474 /gene="PRAMEF17" /coded_by="NM_001099851.3:27..1451" /db_xref="CCDS:CCDS41264.1" /db_xref="GeneID:391004" /db_xref="HGNC:HGNC:29485" ORIGIN 1 mslqspsrll elagqsllrn qfltifilde lprevfplmf meassmrhfe alklmvqawp 61 flrlplgslm ktphletlqa vlkgldtlla qklrprrwkl qvldlrdvdg nfwtiwsgar 121 alscspeams krqtvedypr tgehqplkvf idlcqkestl declsylcrw ihyrrglvhl 181 ccnkvqnysm ptssfrnllk rvypdsiqel eikrkcslnk tgkfapylsq msnlrklfla 241 fgyddelyvs gqqqfvpdld cpflclyypq mlyirkisni kehlehllrc lknplgtfif 301 chayladqdm eclsqypsls qlkelhlihi lmwttnlepl gallekvaat leiltlkdcq 361 iqdsqlrvll palsrcsqlt tfyfrgnets tnalkdllch tgglsklgle lypaplecld 421 nrghvnweil apiraelmct lrevrqpkri ffgpipcpsc gswpsekvdf hlcs // LOCUS NP_001180559 300 aa linear PRI 01-JUL-2020 DEFINITION zinc finger protein 705B [Homo sapiens]. ACCESSION NP_001180559 XP_001720787 VERSION NP_001180559.1 DBSOURCE REFSEQ: accession NM_001193630.1 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 300) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK292586.1 and AC130365.5. On Aug 7, 2010 this sequence version replaced XP_001720787.2. 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## RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000400120.3/ ENSP00000382987.3 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="8" /map="8p23.1" Protein 1..300 /product="zinc finger protein 705B" /note="Putative zinc finger protein 705D-like protein LOC100132396; putative zinc finger protein 705B" /calculated_mol_wt=34601 Region 7..66 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 7..46 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" Region <116..300 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 147..166 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 174..194 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(174,177,190,194) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(179,181,183,185..186,189..190,193,207,209,213..214, 217..218,221,235,237,239,241..242,245..246,249) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 186..211 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 202..222 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(202,205,218,222) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 214..239 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 230..250 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(230,233,246,250) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 258..278 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(258,261,274,278) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..300 /gene="ZNF705B" /coded_by="NM_001193630.1:283..1185" /db_xref="CCDS:CCDS55194.1" /db_xref="GeneID:100132396" /db_xref="HGNC:HGNC:32284" ORIGIN 1 mhslekvtfe dvaidftqee wdmmdtskrk lyrdvmleni shlvslgyqi sksyiilqle 61 qgkelwwegr vflqdqnpdr esalkkkhmi smhpiirkdt stsmtmensl iledpfeynd 121 sgedcthsst itqcllthsg kkpcvskqcg kslrnllspk prkqihtkgk syqcnlceka 181 ytncfylrrh kmthtgerpy achlcgkaft qcshlrrhek thtgerpykc hqcgkafiqs 241 fnlrrherth lgqkcyecdk sgkafsqssg frgnkiihig ekppacllcg kafslssdlr // LOCUS NP_001138476 724 aa linear PRI 01-JUL-2020 DEFINITION golgin subfamily A member 6-like protein 6 [Homo sapiens]. ACCESSION NP_001138476 XP_001723377 VERSION NP_001138476.2 DBSOURCE REFSEQ: accession NM_001145004.2 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 724) 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 AC023310.4. On Apr 11, 2014 this sequence version replaced NP_001138476.1. 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 coding region has been updated to correct several errors that were present versus the GRCh38 reference genome assembly. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2144333 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000619213.1/ ENSP00000480376.1 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="15" /map="15q11.2" Protein 1..724 /product="golgin subfamily A member 6-like protein 6" /note="golgi autoantigen, golgin subfamily a, 6-like 6; putative golgin subfamily A member 6-like protein 6" /calculated_mol_wt=90822 Region 367..713 /region_name="TPH" /note="Trichohyalin-plectin-homology domain; pfam13868" /db_xref="CDD:290579" CDS 1..724 /gene="GOLGA6L6" /coded_by="NM_001145004.2:92..2266" /db_xref="CCDS:CCDS45184.1" /db_xref="GeneID:727832" /db_xref="HGNC:HGNC:37225" 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 naelqeklql vesekseiql nvkelkrkle 241 raklllpqqq lqaeadhlgk elqsvsaklq aqveenelwn rlnqqqeekm wrqeekiqew 301 eekiqeqeek ireqeekire qeekmrrqee mmwekeekmr rqeemmweke ekmrrqeemm 361 wekeekirel eekmheqeki reqeekrqee ekireqekrq eqeakmwrqe ekireqeeki 421 reqekkmwrq eekiheqeki reeekrqeqe emwrqeekir eqeeiwrqke kmheqeekir 481 kqeekvwrqe ekireqeeki reqeekmwrq eekireqeem wreeekmheq ekiweeekrq 541 eqedkmwrqe ekireqeekv wrqeekireq eekrqeqeek mwkqeekire qeekireqee 601 kireqeekir eqeemtqeqe ekmgeqeekm ceqeekmqeq eetmwrqeek ireqekkire 661 qeekireqee mmqeqeekmw eqeekmceqe ekmqeqeekm rrqeekmweq evrlrqqeek 721 mqeh // LOCUS NP_001002760 106 aa linear PRI 01-JUL-2020 DEFINITION testis-specific basic protein Y 2 [Homo sapiens]. ACCESSION NP_001002760 VERSION NP_001002760.1 DBSOURCE REFSEQ: accession NM_001002760.1 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 106) AUTHORS Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, Oates RD, Silber S, van der Veen F, Page DC and Rozen S. TITLE A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region JOURNAL Genomics 83 (6), 1046-1052 (2004) PUBMED 15177557 REFERENCE 2 (residues 1 to 106) AUTHORS Wong EY, Tse JY, Yao KM, Lui VC, Tam PC and Yeung WS. TITLE Identification and characterization of human VCY2-interacting protein: VCY2IP-1, a microtubule-associated protein-like protein JOURNAL Biol. Reprod. 70 (3), 775-784 (2004) PUBMED 14627543 REFERENCE 3 (residues 1 to 106) AUTHORS Tse JY, Wong EY, Cheung AN, O WS, Tam PC and Yeung WS. TITLE Specific expression of VCY2 in human male germ cells and its involvement in the pathogenesis of male infertility JOURNAL Biol. Reprod. 69 (3), 746-751 (2003) PUBMED 12724276 REMARK GeneRIF: VCY2 was weakly expressed at the spermatogonia and immunonegative in spermatocytes and round spermatids in testicular biopsy specimens with maturation arrest or hypospermatogenesis. REFERENCE 4 (residues 1 to 106) 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 5 (residues 1 to 106) AUTHORS Wong EY, Tse JY, Yao KM, Tam PC and Yeung WS. TITLE VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A JOURNAL Biochem. Biophys. Res. Commun. 296 (5), 1104-1111 (2002) PUBMED 12207887 REMARK GeneRIF: VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A REFERENCE 6 (residues 1 to 106) 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 AC010153.3. Summary: This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more centromeric copy within the palindrome. [provided by RefSeq, Jul 2008]. CCDS Note: This CCDS ID represents the protein described in PMIDs: 12724276 and 12207887. 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: 12724276. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more centromeric copy within the palindrome. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000382392.5/ ENSP00000371829.1 NMD candidate :: translation inferred from conservation RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..106 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="Y" /map="Yq11.23" Protein 1..106 /product="testis-specific basic protein Y 2" /note="basic protein on Y chromosome 2; variable charge, Y-linked, 2; basic charge, Y-linked 2; variably charged protein Y 2" /calculated_mol_wt=11932 CDS 1..106 /gene="BPY2B" /gene_synonym="VCY2B" /coded_by="NM_001002760.1:333..653" /db_xref="CCDS:CCDS44029.1" /db_xref="GeneID:442867" /db_xref="HGNC:HGNC:25449" ORIGIN 1 mmtlvprart ragqdhyshp cprfsqvllt egimtycltk nlsdvnilhr llkngnvrnt 61 llqskvgllt yyvklypgev tlltrpsiqm rlccitgsvs rprsqk // LOCUS NP_002162 189 aa linear PRI 01-JUL-2020 DEFINITION interferon alpha-10 precursor [Homo sapiens]. ACCESSION NP_002162 VERSION NP_002162.1 DBSOURCE REFSEQ: accession NM_002171.2 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 189) AUTHORS Xiao CX, Xiao JJ, Xu HZ, Wang HH, Chen X, Liu YS, Li P, Shi Y, Nie YZ, Li S, Wu KC, Liu ZJ, Ren JL and Guleng B. TITLE Exome sequencing identifies novel compound heterozygous IFNA4 and IFNA10 mutations as a cause of impaired function in Crohn's disease patients JOURNAL Sci Rep 5, 10514 (2015) PUBMED 26000985 REMARK GeneRIF: Heterozygous IFNA10 variants is a cause of impaired function and CD-susceptibility genes in Chinese individuals from multiple center based study. Publication Status: Online-Only REFERENCE 2 (residues 1 to 189) AUTHORS Hillyer P, Raviv N, Gold DM, Dougherty D, Liu J, Johnson TR, Graham BS and Rabin RL. TITLE Subtypes of type I IFN differentially enhance cytokine expression by suboptimally stimulated CD4(+) T cells JOURNAL Eur. J. Immunol. 43 (12), 3197-3208 (2013) PUBMED 24030809 REMARK GeneRIF: IFN-alpha8 and -alpha10 most potently enhanced expression of IFN-gamma, IL-2, and IL-4. REFERENCE 3 (residues 1 to 189) AUTHORS Yang XR, Liang X, Pfeiffer RM, Wheeler W, Maeder D, Burdette L, Yeager M, Chanock S, Tucker MA and Goldstein AM. TITLE Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations JOURNAL Fam. Cancer 9 (4), 625-633 (2010) PUBMED 20574843 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (residues 1 to 189) AUTHORS Silva LK, Blanton RE, Parrado AR, Melo PS, Morato VG, Reis EA, Dias JP, Castro JM, Vasconcelos PF, Goddard KA, Barreto ML, Reis MG and Teixeira MG. TITLE Dengue hemorrhagic fever is associated with polymorphisms in JAK1 JOURNAL Eur. J. Hum. Genet. 18 (11), 1221-1227 (2010) PUBMED 20588308 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (residues 1 to 189) AUTHORS Makrythanasis P, Tzetis M, Rapti A, Papatheodorou A, Tsipi M, Kitsiou S, Tsiamouri A, Poulou M, Roussos C and Kanavakis E. TITLE Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients JOURNAL Genet Test Mol Biomarkers 14 (4), 577-584 (2010) PUBMED 20722470 REMARK GeneRIF: We did not reproduce the associations previously noted with the TNF, IFNA10, IFNA17, and IFNG genes with pulmonary sarcoidosis. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 6 (residues 1 to 189) AUTHORS Miterski B, Jaeckel S, Epplen JT, Pohlau D and Hardt C. TITLE The interferon gene cluster: a candidate region for MS predisposition? Multiple Sclerosis Study Group JOURNAL Genes Immun. 1 (1), 37-44 (1999) PUBMED 11197304 REFERENCE 7 (residues 1 to 189) 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 8 (residues 1 to 189) AUTHORS Bartholomew C and Windass JD. TITLE Identification of a functional allele of a human interferon-alpha gene previously characterized as a pseudogene JOURNAL J. Interferon Res. 9 (4), 407-417 (1989) PUBMED 2526839 REFERENCE 9 (residues 1 to 189) AUTHORS Henco,K., Brosius,J., Fujisawa,A., Fujisawa,J.I., Haynes,J.R., Hochstadt,J., Kovacic,T., Pasek,M., Schambock,A., Schmid,J. et al. TITLE Structural relationship of human interferon alpha genes and pseudogenes JOURNAL J. Mol. Biol. 185 (2), 227-260 (1985) PUBMED 4057246 REFERENCE 10 (residues 1 to 189) AUTHORS Goeddel,D.V., Leung,D.W., Dull,T.J., Gross,M., Lawn,R.M., McCandliss,R., Seeburg,P.H., Ullrich,A., Yelverton,E. and Gray,P.W. TITLE The structure of eight distinct cloned human leukocyte interferon cDNAs JOURNAL Nature 290 (5801), 20-26 (1981) PUBMED 6163083 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC069409.1 and V00551.1. Summary: This gene encodes a protein that belongs to the type I interferon family of proteins, and is located in a cluster of alpha interferon genes on chromosome 9. Interferons are small regulatory molecules that function in cell signaling in response to viruses and other pathogens or tumor cells. This gene is intronless and the encoded protein is secreted. [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 :: V00551.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000357374.2/ ENSP00000369566.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..189 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9p21.3" Protein 1..189 /product="interferon alpha-10 precursor" /note="leIF C; IFN-alpha-10; interferon alpha-C; interferon alpha-6L" /calculated_mol_wt=19406 sig_peptide 1..23 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2447 mat_peptide 24..189 /product="Interferon alpha-10. /id=PRO_0000016366" /note="propagated from UniProtKB/Swiss-Prot (P01566.1)" /calculated_mol_wt=19406 Region 26..185 /region_name="Interferon" /note="Interferon alpha/beta domain; pfam00143" /db_xref="CDD:306620" Site order(28..29,32,35..36,39,42..43,100..101,103..104, 106..107,110,113..114,117..118,121) /site_type="other" /note="putative IFNAR-1 binding site" /db_xref="CDD:238047" Site order(53..60,62..64,70..71,141..142,144..145,148..149, 151..152,155..160) /site_type="other" /note="putative IFNAR-2 binding site" /db_xref="CDD:238047" Site 101 /site_type="other" /note="N-glycosylation site [posttranslational modification]" /db_xref="CDD:238047" CDS 1..189 /gene="IFNA10" /gene_synonym="IFN-alphaC" /coded_by="NM_002171.2:47..616" /db_xref="CCDS:CCDS6499.1" /db_xref="GeneID:3446" /db_xref="HGNC:HGNC:5418" /db_xref="MIM:147577" ORIGIN 1 malsfsllma vlvlsyksic slgcdlpqth slgnrralil lgqmgrispf sclkdrhdfr 61 ipqeefdgnq fqkaqaisvl hemiqqtfnl fstedssaaw eqsllekfst elyqqlndle 121 acviqevgve etplmnedsi lavrkyfqri tlylierkys pcawevvrae imrslsfstn 181 lqkrlrrkd // LOCUS NP_001362586 181 aa linear PRI 01-JUL-2020 DEFINITION beta-lactoglobulin precursor [Homo sapiens]. ACCESSION NP_001362586 XP_011517581 VERSION NP_001362586.1 DBSOURCE REFSEQ: accession NM_001375657.2 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 AL354761.17. On Oct 31, 2019 this sequence version replaced XP_011517581.1. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000430816.3/ ENSP00000490264.2 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="9" /map="9q34.3" Protein 1..181 /product="beta-lactoglobulin precursor" /note="beta-lactoglobulin-like" /calculated_mol_wt=18296 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1921 Region 37..174 /region_name="lipocalin_FABP" /note="lipocalin/cytosolic fatty acid-binding protein family; cl10502" /db_xref="CDD:385686" Site order(38,42,66,68,76,78,80,91,93,95,104,106,112,113,115, 125,127,129,139,141,143) /site_type="other" /note="ligand binding cavity [chemical binding]" /db_xref="CDD:381182" CDS 1..181 /gene="LOC102723971" /coded_by="NM_001375657.2:58..603" /db_xref="GeneID:102723971" ORIGIN 1 malekgplll lalglglaga qkaleevpvq pgfnaqkveg rwltlqlaan hadlvspadp 61 lrlalhsirt rdggdvdfvl fwkgegvcke tnitvhptql qgqyqgsfeg gsmhvcfvst 121 dysnlilyvr feddeitnlw vllarrmled pkwlgryley vekfhlqkap vfnidgpcpp 181 p // LOCUS NP_001032820 102 aa linear PRI 01-JUL-2020 DEFINITION beta-defensin 116 precursor [Homo sapiens]. ACCESSION NP_001032820 VERSION NP_001032820.1 DBSOURCE REFSEQ: accession NM_001037731.1 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 102) AUTHORS Patil AA, Cai Y, Sang Y, Blecha F and Zhang G. TITLE Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract JOURNAL Physiol. Genomics 23 (1), 5-17 (2005) PUBMED 16033865 REMARK GeneRIF: The encoded protein is thought to display antimicrobial activity. REFERENCE 2 (residues 1 to 102) 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 3 (residues 1 to 102) 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 DQ012020.1. Summary: Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]. ##Evidence-Data-START## Transcript exon combination :: DQ012020.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000400549.1/ ENSP00000383396.1 Protein has antimicrobial activity :: PMID: 16033865 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..102 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20q11.21" Protein 1..102 /product="beta-defensin 116 precursor" /note="defensin, beta 16; beta-defensin 116; beta-defensin 16" /calculated_mol_wt=9071 sig_peptide 1..23 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2491 mat_peptide 24..102 /product="beta-defensin 116" /experiment="DESCRIPTION:antimicrobial peptide[PMID: 16033865]" /calculated_mol_wt=9071 Region 40..68 /region_name="Defensin_beta_2" /note="Beta defensin; pfam13841" /db_xref="CDD:316366" CDS 1..102 /gene="DEFB116" /gene_synonym="DEFB-16" /coded_by="NM_001037731.1:1..309" /db_xref="CCDS:CCDS42860.1" /db_xref="GeneID:245930" /db_xref="HGNC:HGNC:18097" ORIGIN 1 msvmkpclmt iailmilaqk tpgglfrshn gksrepwnpc elyqgmcrna creyeiqylt 61 cpndqkcclk lsvkitsskn vkedydsnsn lsvtnsssys hi // LOCUS NP_777557 453 aa linear PRI 01-JUL-2020 DEFINITION BPI fold-containing family B member 6 precursor [Homo sapiens]. ACCESSION NP_777557 VERSION NP_777557.1 DBSOURCE REFSEQ: accession NM_174897.2 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 453) AUTHORS Morosky S, Lennemann NJ and Coyne CB. TITLE BPIFB6 Regulates Secretory Pathway Trafficking and Enterovirus Replication JOURNAL J. Virol. 90 (10), 5098-5107 (2016) PUBMED 26962226 REMARK GeneRIF: study reports on the cellular function of BPIFB6 in the regulation of secretory pathway trafficking and Golgi complex morphology; in addition, findings show that BPIFB6 functions as a positive regulator of enterovirus replication via its regulation of the secretory pathway Publication Status: Online-Only REFERENCE 2 (residues 1 to 453) AUTHORS Bingle CD, Seal RL and Craven CJ. TITLE Systematic nomenclature for the PLUNC/PSP/BSP30/SMGB proteins as a subfamily of the BPI fold-containing superfamily JOURNAL Biochem. Soc. Trans. 39 (4), 977-983 (2011) PUBMED 21787333 REFERENCE 3 (residues 1 to 453) 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 453) AUTHORS Bingle CD, LeClair EE, Havard S, Bingle L, Gillingham P and Craven CJ. TITLE Phylogenetic and evolutionary analysis of the PLUNC gene family JOURNAL Protein Sci. 13 (2), 422-430 (2004) PUBMED 14739326 REFERENCE 5 (residues 1 to 453) AUTHORS Mulero JJ, Boyle BJ, Bradley S, Bright JM, Nelken ST, Ho TT, Mize NK, Childs JD, Ballinger DG, Ford JE and Rupp F. TITLE Three new human members of the lipid transfer/lipopolysaccharide binding protein family (LT/LBP) JOURNAL Immunogenetics 54 (5), 293-300 (2002) PUBMED 12185532 REMARK GeneRIF: BPIL3 maps to Chromosome 20q11; thus, these novel genes form a cluster with BPI and two other members of the LT/LBP gene family on the long arm of human Chr 20. AA sequence is reported. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AF465767.1 and BC113122.1. ##Evidence-Data-START## Transcript exon combination :: AF465767.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000349552.1/ ENSP00000344929.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..453 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20q11.21" Protein 1..453 /product="BPI fold-containing family B member 6 precursor" /note="bactericidal/permeability-increasing protein-like 3" /calculated_mol_wt=47786 sig_peptide 1..18 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1948 Region 21..227 /region_name="BPI1" /note="BPI/LBP/CETP N-terminal domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) N-terminal domain; binds to and neutralizes lipopolysaccharides from the outer...; cd00025" /db_xref="CDD:237992" Site 21..27 /site_type="other" /note="BPI dimerizatation interface [polypeptide binding]" /db_xref="CDD:237992" Site order(26,31,34,37,40,85,119,121,132,177,181,185,218) /site_type="other" /note="apolar binding pocket" /db_xref="CDD:237992" Site 114 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NFQ5.1)" Site 190 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NFQ5.1)" Site order(262,265,269,330,364,366,375,412,416,420,446) /site_type="other" /note="apolar binding pocket" /db_xref="CDD:238164" Region 274..448 /region_name="BPI" /note="BPI/LBP/CETP domain; Bactericidal permeability-increasing protein (BPI) / Lipopolysaccharide-binding protein (LBP) / Cholesteryl ester transfer protein (CETP) domain; binds to and neutralizes lipopolysaccharides from the outer membrane of Gram-negative...; cl00188" /db_xref="CDD:294124" CDS 1..453 /gene="BPIFB6" /gene_synonym="BPIL3; LPLUNC6" /coded_by="NM_174897.2:1..1362" /db_xref="CCDS:CCDS13211.1" /db_xref="GeneID:128859" /db_xref="HGNC:HGNC:16504" /db_xref="MIM:614110" ORIGIN 1 mlrilclalc slltgtradp gallrlgmdi mnqvqsamde shilekmaae agkkqpgmkp 61 ikgitnlkvk dvqlpvitln fvpgvgifqc vstgmtvtgk sfmggnmeii valnitatnr 121 llrdeetglp vfksegcevi lvnvktnlps nmlpkmvnkf ldstlhkvlp glmcpaidav 181 lvyvnrkwtn lsdpmpvgqm gtvkyvlmsa pattasyiql dfspvvqqqk gktikladag 241 ealtfpegya kgssqlllpa tflsaelall qksfhvniqd tmigelppqt tktlarfipe 301 vavaypkskp lttqikikkp pkvtmktgks llhlhstlem faarwrskap mslfllevhf 361 nlkvqysvhe nqlqmatsld rllslsrkss signfnerel tgfitsylee ayipvvndvl 421 qvglplpdfl amnynlaeld ivenalmldl klg // LOCUS NP_001243792 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin carboxyl-terminal hydrolase 17-like protein 22 [Homo sapiens]. ACCESSION NP_001243792 XP_002342480 VERSION NP_001243792.1 DBSOURCE REFSEQ: accession NM_001256863.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC108519.4. On Mar 3, 2012 this sequence version replaced XP_002342480.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000511280.1/ ENSP00000423115.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin carboxyl-terminal hydrolase 17-like protein 22" /EC_number="3.4.19.12" /calculated_mol_wt=59540 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L22" /coded_by="NM_001256863.1:1..1593" /db_xref="CCDS:CCDS59463.1" /db_xref="GeneID:100287513" /db_xref="HGNC:HGNC:44450" 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 ldmqpymsqq ntgplvyvly avlvhagwsc hnghyfsyvk aqegqwykmd daevtassit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel 421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllkls sttpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_076406 312 aa linear PRI 01-JUL-2020 DEFINITION taste receptor type 2 member 9 [Homo sapiens]. ACCESSION NP_076406 VERSION NP_076406.1 DBSOURCE REFSEQ: accession NM_023917.2 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 Bartakova V, Kuricova K, Zlamal F, Belobradkova J and Kankova K. TITLE Differences in food intake and genetic variability in taste receptors between Czech pregnant women with and without gestational diabetes mellitus JOURNAL Eur J Nutr 57 (2), 513-521 (2018) PUBMED 27757593 REMARK GeneRIF: genetic association studies in population of pregnant women in Czechoslovakia: Data suggest that an SNP in TAS2R9 (rs3741845) is associated with gestational diabetes; such genetic variation may play role in food preferences and compliance with healthy diet that may help prevent gestational diabetes. Associations were not found for SNPs in TAS1R2 and TAS2R7. REFERENCE 2 (residues 1 to 312) AUTHORS Dotson CD, Zhang L, Xu H, Shin YK, Vigues S, Ott SH, Elson AE, Choi HJ, Shaw H, Egan JM, Mitchell BD, Li X, Steinle NI and Munger SD. TITLE Bitter taste receptors influence glucose homeostasis JOURNAL PLoS ONE 3 (12), e3974 (2008) PUBMED 19092995 REMARK GeneRIF: A functionally compromised TAS2R receptor negatively impacts glucose homeostasis, providing an important link between alimentary chemosensation and metabolic disease. REFERENCE 3 (residues 1 to 312) 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 312) 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 312) 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 6 (residues 1 to 312) 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 312) 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 312) 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 312) 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 312) 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 BC095519.1 and BC069066.1. 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]. Publication Note: This RefSeq record includes 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 :: BC095519.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000240691.4/ ENSP00000240691.2 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="12" /map="12p13.2" Protein 1..312 /product="taste receptor type 2 member 9" /note="taste receptor, family B, member 6; taste receptor, type 2, member 9" /calculated_mol_wt=35480 Region 1..301 /region_name="TAS2R" /note="Taste receptor protein (TAS2R); pfam05296" /db_xref="CDD:283059" Site 10..32 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYW1.1)" Site 53..72 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYW1.1)" Site 87..109 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYW1.1)" Site 129..146 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYW1.1)" Site 164 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NYW1.1)" Site 181..203 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYW1.1)" Site 235..257 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYW1.1)" Site 262..284 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYW1.1)" CDS 1..312 /gene="TAS2R9" /gene_synonym="T2R9; TRB6" /coded_by="NM_023917.2:94..1032" /db_xref="CCDS:CCDS8633.1" /db_xref="GeneID:50835" /db_xref="HGNC:HGNC:14917" /db_xref="MIM:604795" ORIGIN 1 mpsaieaiyi iliageltig iwgngfivlv ncidwlkrrd islidiilis laisricllc 61 visldgffml lfpgtygnsv lvsivnvvwt fannsslwft sclsifyllk ianishpfff 121 wlklkinkvm laillgsfli sliisvpknd dmwyhlfkvs heenitwkfk vskipgtfkq 181 ltlnlgvmvp filclisffl llfslvrhtk qirlhatgfr dpsteahmra ikaviiflll 241 livyypvflv mtssalipqg klvlmigdiv tvifpsshsf ilimgnsklr eaflkmlrfv 301 kcflrrrkpf vp // LOCUS NP_001243786 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin carboxyl-terminal hydrolase 17-like protein 17 [Homo sapiens]. ACCESSION NP_001243786 XP_002342475 VERSION NP_001243786.1 DBSOURCE REFSEQ: accession NM_001256857.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC108519.4. On Mar 2, 2012 this sequence version replaced XP_002342475.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000511568.1/ ENSP00000422621.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin carboxyl-terminal hydrolase 17-like protein 17" /EC_number="3.4.19.12" /calculated_mol_wt=59496 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L17" /coded_by="NM_001256857.1:1..1593" /db_xref="CCDS:CCDS59458.1" /db_xref="GeneID:100287327" /db_xref="HGNC:HGNC:44445" 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 ldmqpymsqq ntgplvyvly avlvhagwsc hnghyfsyvk aqegqwykmd daevtaasit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel 421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllnls sstpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_001278309 474 aa linear PRI 01-JUL-2020 DEFINITION PRAME family member-like [Homo sapiens]. ACCESSION NP_001278309 XP_006725016 XP_011544723 VERSION NP_001278309.1 DBSOURCE REFSEQ: accession NM_001291380.1 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. 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 AC244216.2 and AC245056.3. On or before Mar 22, 2015 this sequence version replaced XP_011544723.1, XP_006725016.1. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000625019.3/ ENSP00000491259.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##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-like" /calculated_mol_wt=54783 CDS 1..474 /gene="PRAMEF13" /coded_by="NM_001291380.1:104..1528" /db_xref="CCDS:CCDS85927.1" /db_xref="GeneID:400736" /db_xref="HGNC:HGNC:13262" ORIGIN 1 msiqapprll elagqsllrd qalsisamee lprvlylplf meafrrrhfq tltvmvqawp 61 ftclplgslm ktlhletlka lleglhmllt qkdrprrrkl qvldlrdvde nfwarwpgaw 121 alscfpetms krqtaedrpr mgehqplkvf idiclkeipq declrylfqw vyqrrglvhl 181 ccsklvnylt pikhlrkslk iiylnsiqel eihnmswprl irklrcylke mktlgklvfs 241 rchhstsdne legrlvtkfs svflglehlq llkiklitff sghleqlirc lqnplenlel 301 tygylleedv kclsqypslg ylkhlnlsyv llfrislepl gallekiaas letlilegcq 361 ihysqlsail pglsrcsqlt tfyfgrncms mgalkdllrh tsglsklsle typapeesln 421 slvrvnweif tplraelmct lrevrqpkri figptpcpsc gsslseelel hlcc // LOCUS NP_001172078 220 aa linear PRI 01-JUL-2020 DEFINITION putative claudin-24 [Homo sapiens]. ACCESSION NP_001172078 XP_001714712 XP_001716992 XP_001717022 VERSION NP_001172078.1 DBSOURCE REFSEQ: accession NM_001185149.1 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 220) AUTHORS Lal-Nag M and Morin PJ. TITLE The claudins JOURNAL Genome Biol. 10 (8), 235 (2009) PUBMED 19706201 REMARK Review article REFERENCE 2 (residues 1 to 220) AUTHORS Krause G, Winkler L, Mueller SL, Haseloff RF, Piontek J and Blasig IE. TITLE Structure and function of claudins JOURNAL Biochim. Biophys. Acta 1778 (3), 631-645 (2008) PUBMED 18036336 REMARK Review article REFERENCE 3 (residues 1 to 220) AUTHORS Katoh M and Katoh M. TITLE CLDN23 gene, frequently down-regulated in intestinal-type gastric cancer, is a novel member of CLAUDIN gene family JOURNAL Int. J. Mol. Med. 11 (6), 683-689 (2003) PUBMED 12736707 REMARK GeneRIF: CLDN21, clustered with CLDN22 at human chromosome 4q35.1, is a four-transmembrane protein with WWCC motif, defined by W-X(17-22)-W-X(2)-C-X(8-10)-C. REFERENCE 4 (residues 1 to 220) 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 5 (residues 1 to 220) 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 6 (residues 1 to 220) 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 7 (residues 1 to 220) 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 8 (residues 1 to 220) 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 VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC093844.3. On or before Jun 9, 2010 this sequence version replaced XP_001714712.1, XP_001716992.1, XP_001717022.1. 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. The protein encoded by this gene is 75% identical to the mouse homolog. This gene is upstream of the CLDN22 gene, which overlaps the WWC2 gene on the opposite strand in the genome.[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. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000541814.1/ ENSP00000438400.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..220 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q35.1" Protein 1..220 /product="putative claudin-24" /note="claudin 21" /calculated_mol_wt=24290 Site 11..31 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NM45.2)" Region <49..172 /region_name="PMP22_Claudin" /note="PMP-22/EMP/MP20/Claudin family; cl21598" /db_xref="CDD:304458" Site 82..102 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NM45.2)" Site 118..138 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NM45.2)" Site 162..182 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NM45.2)" CDS 1..220 /gene="CLDN24" /gene_synonym="CLDN21" /coded_by="NM_001185149.1:1..663" /db_xref="CCDS:CCDS54824.1" /db_xref="GeneID:100132463" /db_xref="HGNC:HGNC:37200" ORIGIN 1 malifrtamq svglllsllg wilsiittyl phwknlnldl nemenwtmgl wqtcviqeev 61 gmqckdfdsf lalpaelrvs rilmflsngl gflgllvsgf gldclriges qrdlkrrlli 121 lggilswasg italvpvswv ahktvqefwd envpdfvprw efgealflgw faglslllgg 181 cllncaacss haplalghya vaqmqtqcpy ledgtadpqv // LOCUS NP_001243790 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin carboxyl-terminal hydrolase 17-like protein 20 [Homo sapiens]. ACCESSION NP_001243790 XP_002342478 VERSION NP_001243790.1 DBSOURCE REFSEQ: accession NM_001256861.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AC108519.4. On Mar 3, 2012 this sequence version replaced XP_002342478.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000506151.1/ ENSP00000427264.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin carboxyl-terminal hydrolase 17-like protein 20" /EC_number="3.4.19.12" /calculated_mol_wt=59495 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L20" /coded_by="NM_001256861.1:1..1593" /db_xref="CCDS:CCDS59461.1" /db_xref="GeneID:100287441" /db_xref="HGNC:HGNC:44448" 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 daevtassit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel 421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllnls sttpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_001289480 293 aa linear PRI 01-JUL-2020 DEFINITION heterogeneous nuclear ribonucleoprotein C-like 4 [Homo sapiens]. ACCESSION NP_001289480 XP_003960163 XP_006711147 XP_006725020 VERSION NP_001289480.1 DBSOURCE REFSEQ: accession NM_001302551.2 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 293) 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC245056.3. On or before Oct 28, 2014 this sequence version replaced XP_006711147.1, XP_006725020.1, XP_003960163.2. CCDS Note: This CCDS representation lacks full-length human transcript support. Its representation is therefore inferred, but it is supported by paralogous transcripts. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000323770.8/ ENSP00000485450.2 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="1" /map="1p36.21" Protein 1..293 /product="heterogeneous nuclear ribonucleoprotein C-like 4" /note="Heterogeneous nuclear ribonucleoprotein C-like 3" /calculated_mol_wt=31898 Region 16..83 /region_name="RRM_hnRNPC_like" /note="RNA recognition motif in heterogeneous nuclear ribonucleoprotein C (hnRNP C)-related proteins; cd12341" /db_xref="CDD:240787" Region 87..>147 /region_name="ANKH" /note="Progressive ankylosis protein (ANKH); pfam07260" /db_xref="CDD:284634" CDS 1..293 /gene="HNRNPCL4" /gene_synonym="HNRNPCL3" /coded_by="NM_001302551.2:165..1046" /db_xref="CCDS:CCDS76107.1" /db_xref="GeneID:101060301" /db_xref="HGNC:HGNC:51333" ORIGIN 1 masnvtnkmd phsmnsrvfi gnlntlvvkk sdveaifsky gkiagcsvhk gfafvqydke 61 knaraavage dgrmiasqvv dinlaaepkv nrgnagvkrs aaemygssfd ldynlqrdyy 121 ggmysfparv pppppialav vpskrqrisg ntsrrgksgf nsksgkrgss ksgklkgddl 181 qaikqeltqi kqkvdsllen lekiekehck qgvevknaks eeeqtssssk kdkthvkmes 241 eggaddsvee gdllcdddne dqgdnqleli kddekgaeeg eddrdrangq dds // LOCUS NP_001243784 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin carboxyl-terminal hydrolase 17-like protein 13 [Homo sapiens]. ACCESSION NP_001243784 XP_002342474 VERSION NP_001243784.1 DBSOURCE REFSEQ: accession NM_001256855.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC108519.4. On Mar 2, 2012 this sequence version replaced XP_002342474.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000429667.1/ ENSP00000414392.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin carboxyl-terminal hydrolase 17-like protein 13" /EC_number="3.4.19.12" /calculated_mol_wt=59563 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L13" /coded_by="NM_001256855.1:1..1593" /db_xref="CCDS:CCDS59457.1" /db_xref="GeneID:100287238" /db_xref="HGNC:HGNC:44441" ORIGIN 1 meedslylgg ewqfnhfskl tssrldaafa eiqrtslpek splscetrvd lcddlvpear 61 qlapreklpl ssrrpaavga glqnmgntcy vnaslqclty tpplanymls rehsqtchrh 121 kgcmlctmqa hitralhnpg hviqpsqala agfhrgkqed aheflmftvd amkkaclpgh 181 kqvdhpskdt tlihqifggy wrsqikclhc hgisdtfdpy ldialdiqaa qsvqqaleql 241 vkpeelngen ayhcgvclqr apasktltlh tsakvlilvl krfsdvtgnk iaknvqypec 301 ldmqpymsqq ntgplvyvly avlvhagwsc hnghyfsyvk aqegqwykmd daevtaasit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel 421 dehlveratq estldrwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllnls sstpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_001182186 79 aa linear PRI 01-JUL-2020 DEFINITION beta-defensin 130B precursor [Homo sapiens]. ACCESSION NP_001182186 XP_001721658 VERSION NP_001182186.1 DBSOURCE REFSEQ: accession NM_001195257.1 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 79) AUTHORS Terkawi MA, Takano R, Furukawa A, Murakoshi F and Kato K. TITLE Involvement of beta-defensin 130 (DEFB130) in the macrophage microbicidal mechanisms for killing Plasmodium falciparum JOURNAL Sci Rep 7, 41772 (2017) PUBMED 28181499 REMARK Publication Status: Online-Only COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC130366.6. On Sep 1, 2010 this sequence version replaced XP_001721658.1. 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 :: ENST00000437818.1/ ENSP00000392568.1 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="8" /map="8p23.1" Protein 1..79 /product="beta-defensin 130B precursor" /note="defensin, beta 130-like; beta-defensin 130-like; beta-defensin 130B" /calculated_mol_wt=6302 sig_peptide 1..22 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2452 CDS 1..79 /gene="DEFB130B" /coded_by="NM_001195257.1:1..240" /db_xref="CCDS:CCDS56524.1" /db_xref="GeneID:100133267" /db_xref="HGNC:HGNC:39814" ORIGIN 1 mklhslisvl llfvtlipkg ktgvipgqkq cialkgvcrd klcstlddti gicnegkkcc 61 rrwwilepyp tpvpkgksp // LOCUS NP_001002758 147 aa linear PRI 01-JUL-2020 DEFINITION PTPN13-like protein, Y-linked [Homo sapiens]. ACCESSION NP_001002758 VERSION NP_001002758.1 DBSOURCE REFSEQ: accession NM_001002758.1 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 147) AUTHORS Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, Oates RD, Silber S, van der Veen F, Page DC and Rozen S. TITLE A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region JOURNAL Genomics 83 (6), 1046-1052 (2004) PUBMED 15177557 REFERENCE 2 (residues 1 to 147) 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 147) 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 AC007359.3. This sequence is a reference standard in the RefSeqGene project. Summary: This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000303804.5/ ENSP00000303300.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..147 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="Y" /map="Yq11.223" Protein 1..147 /product="PTPN13-like protein, Y-linked" /note="PTPN13-like, Y-linked, centromeric; testis-specific PTP-BL-related protein on Y; testis-specific PTP-BL-related Y protein" /calculated_mol_wt=16381 CDS 1..147 /gene="PRY2" /gene_synonym="PTPN13LY2" /coded_by="NM_001002758.1:228..671" /db_xref="CCDS:CCDS35482.1" /db_xref="GeneID:442862" /db_xref="HGNC:HGNC:21504" /db_xref="MIM:400041" ORIGIN 1 mgatglgfll swrqdnlngt dcqgcnilyf settgsmcse lslnrglear rkkdlkdsfl 61 wrygkvgcis lplremtawi nppqiseifq gyhqrvhgad alslqtnslr srlssqclgq 121 sfllrtlerg rgfralgdic ghvheed // LOCUS NP_001073609 288 aa linear PRI 01-JUL-2020 DEFINITION cancer/testis antigen 47A [Homo sapiens]. ACCESSION NP_001073609 XP_931779 VERSION NP_001073609.1 DBSOURCE REFSEQ: accession NM_001080140.1 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 288) AUTHORS Chen YT, Iseli C, Venditti CA, Old LJ, Simpson AJ and Jongeneel CV. TITLE Identification of a new cancer/testis gene family, CT47, among expressed multicopy genes on the human X chromosome JOURNAL Genes Chromosomes Cancer 45 (4), 392-400 (2006) PUBMED 16382448 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL670379.17. This sequence is a reference standard in the RefSeqGene project. On Jan 13, 2007 this sequence version replaced XP_931779.1. Summary: This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]. ##Evidence-Data-START## Transcript exon combination :: CA417843.1, DB539785.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000434883.3/ ENSP00000392283.2 RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..288 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq24" Protein 1..288 /product="cancer/testis antigen 47A" /note="cancer/testis CT47 family, member 7" /calculated_mol_wt=29969 Region 1..263 /region_name="CT47" /note="Cancer/testis gene family 47; pfam15623" /db_xref="CDD:317935" CDS 1..288 /gene="CT47A7" /gene_synonym="CT47.7" /coded_by="NM_001080140.1:256..1122" /db_xref="CCDS:CCDS35385.1" /db_xref="GeneID:653282" /db_xref="HGNC:HGNC:33288" /db_xref="MIM:300786" ORIGIN 1 msatgdrhpt qgdqeapvsq egaqaeaaga gnqeggdsgp dssdvvpaae vvgvagpveg 61 lgeeegeqaa glaavprggs aeedsdigpa teeeeeeegn eaanfdlavv arrypasgih 121 fvlldmvhsl lhrlshndhi lienrqlsrl mvgphaaarn lwgnlpplll pqrlgagaaa 181 rageglgliq eaasvpepav padlaemare paeeaaeekl seeateepda eepateepta 241 qeatapeevt ksqpekwdee aqdaageeek eqekekdaen kvknskgt // LOCUS NP_001277622 431 aa linear PRI 01-JUL-2020 DEFINITION beclin-2 [Homo sapiens]. ACCESSION NP_001277622 VERSION NP_001277622.1 DBSOURCE REFSEQ: accession NM_001290693.1 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 431) AUTHORS Zhong L, Shu W, Dai W, Gao B and Xiong S. TITLE Reactive Oxygen Species-Mediated c-Jun NH2-Terminal Kinase Activation Contributes to Hepatitis B Virus X Protein-Induced Autophagy via Regulation of the Beclin-1/Bcl-2 Interaction JOURNAL J. Virol. 91 (15), e00001-17 (2017) PUBMED 28515304 REMARK GeneRIF: Further data showed that reactive oxygen species-c-Jun activation by HBx resulted in the release of beclin-1 from its association with beclin-2 to form a complex with VPS34, thus enhancing autophagosome formation. Publication Status: Online-Only REFERENCE 2 (residues 1 to 431) AUTHORS Su M, Li Y, Wyborny S, Neau D, Chakravarthy S, Levine B, Colbert CL and Sinha SC. TITLE BECN2 interacts with ATG14 through a metastable coiled-coil to mediate autophagy JOURNAL Protein Sci. 26 (5), 972-984 (2017) PUBMED 28218432 REMARK GeneRIF: polar BECN2 CCD interface residues result in a metastable homodimer, facilitating dissociation, but enable better interactions with polar ATG14 residues stabilizing the BECN2:ATG14 heterodimer. REFERENCE 3 (residues 1 to 431) AUTHORS Dong X, Cheng A, Zou Z, Yang YS, Sumpter RM Jr, Huang CL, Bhagat G, Virgin HW, Lira SA and Levine B. TITLE Endolysosomal trafficking of viral G protein-coupled receptor functions in innate immunity and control of viral oncogenesis JOURNAL Proc. Natl. Acad. Sci. U.S.A. 113 (11), 2994-2999 (2016) PUBMED 26929373 REMARK GeneRIF: Both transfected and endogenous beclin 2 coimmunoprecipitated with vGPCR. Beclin 2 overexpression decreased HA-vGPCR steady-state levels. It regulates vGPCR levels by a lysosomal degradation pathway. REFERENCE 4 (residues 1 to 431) AUTHORS Liu JL, Chen FF, Chang SF, Chen CN, Lung J, Lo CH, Lee FH, Lu YC and Hung CH. TITLE Expression of Beclin Family Proteins Is Associated with Tumor Progression in Oral Cancer JOURNAL PLoS ONE 10 (10), e0141308 (2015) PUBMED 26506105 REMARK GeneRIF: distinct patterns of Beclin 1 and Beclin 2 were associated with aggressive clinical outcomes. Beclin 1 overexpression, as well as Beclin 2 overexpression and depletion, contributed to tumor growth. Publication Status: Online-Only REFERENCE 5 (residues 1 to 431) AUTHORS He C, Wei Y, Sun K, Li B, Dong X, Zou Z, Liu Y, Kinch LN, Khan S, Sinha S, Xavier RJ, Grishin NV, Xiao G, Eskelinen EL, Scherer PE, Whistler JL and Levine B. TITLE Beclin 2 functions in autophagy, degradation of G protein-coupled receptors, and metabolism JOURNAL Cell 154 (5), 1085-1099 (2013) PUBMED 23954414 REMARK GeneRIF: Study identified a previously uncharacterized mammalian-specific protein, Beclin 2, which, like Beclin 1, functions in autophagy and interacts with class III PI3K complex components.[Beclin 2] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from HM031116.1. ##Evidence-Data-START## Transcript is intronless :: HM031116.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000419583.2/ ENSP00000488361.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..431 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q43" Protein 1..431 /product="beclin-2" /note="Beclin-1-like protein 1; beclin-1 autophagy-related pseudogene 1" /calculated_mol_wt=48022 Region 116..428 /region_name="APG6" /note="Autophagy protein Apg6; pfam04111" /db_xref="CDD:282029" Region 173..243 /region_name="Required for homodimer formation. /evidence=ECO:0000269|PubMed:28218432" /note="propagated from UniProtKB/Swiss-Prot (A8MW95.2)" CDS 1..431 /gene="BECN2" /gene_synonym="BECN1L1; BECN1P1" /coded_by="NM_001290693.1:1..1296" /db_xref="CCDS:CCDS81433.1" /db_xref="GeneID:441925" /db_xref="HGNC:HGNC:38606" /db_xref="MIM:615687" ORIGIN 1 mssirflcqr chqalklsgs sesrslpaap aptsgqaepg dtrepgvttr evtdaeeqqd 61 gassrsppgd gsvskghani ftllgelgam hmlssiqkaa gdifdivsgq avvdhplcee 121 ctdslleqld iqlalteads qnyqrcletg elatsedeaa alraelrdle leearlvqel 181 edvdrnnara aadlqaaqae aaeldqqerq hyrdysalkr qqlelldqlg nvenqlqyar 241 vqrdrlkein cftatfeiwv egplgvinnf rlgrlptvrv gwneintawg qaalllltla 301 ntiglqfqry rlipcgnhsy lksltddrte lplfcyggqd vflnnkydra mvafldcmqq 361 fkeeaekgel glslpygiqv etglmedvgg rgecysirth lntqelwtka lkfmlinfkw 421 sliwvasryq k // LOCUS NP_775842 288 aa linear PRI 01-JUL-2020 DEFINITION cancer/testis antigen 47A [Homo sapiens]. ACCESSION NP_775842 VERSION NP_775842.2 DBSOURCE REFSEQ: accession NM_173571.2 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 288) AUTHORS Chen YT, Iseli C, Venditti CA, Old LJ, Simpson AJ and Jongeneel CV. TITLE Identification of a new cancer/testis gene family, CT47, among expressed multicopy genes on the human X chromosome JOURNAL Genes Chromosomes Cancer 45 (4), 392-400 (2006) PUBMED 16382448 REMARK GeneRIF: CT47 expression was found in approximately 15% of lung cancer and esophageal cancer specimens, but not in colorectal cancer or breast cancer. The putative CT47 protein consists of 288 amino acid, with a C-terminus rich in alanine and glutamic acid. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC029540.1, DB471077.1 and AI024600.1. This sequence is a reference standard in the RefSeqGene project. On Jan 13, 2007 this sequence version replaced NP_775842.1. Summary: This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. [provided by RefSeq, Sep 2010]. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000457020.3/ ENSP00000410400.2 RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..288 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq24" Protein 1..288 /product="cancer/testis antigen 47A" /note="cancer/testis CT47 family, member 11" /calculated_mol_wt=29969 Region 1..263 /region_name="CT47" /note="Cancer/testis gene family 47; pfam15623" /db_xref="CDD:317935" CDS 1..288 /gene="CT47A11" /gene_synonym="CT47.11" /coded_by="NM_173571.2:256..1122" /db_xref="CCDS:CCDS35381.1" /db_xref="GeneID:255313" /db_xref="HGNC:HGNC:27397" /db_xref="MIM:300592" ORIGIN 1 msatgdrhpt qgdqeapvsq egaqaeaaga gnqeggdsgp dssdvvpaae vvgvagpveg 61 lgeeegeqaa glaavprggs aeedsdigpa teeeeeeegn eaanfdlavv arrypasgih 121 fvlldmvhsl lhrlshndhi lienrqlsrl mvgphaaarn lwgnlpplll pqrlgagaaa 181 rageglgliq eaasvpepav padlaemare paeeaaeekl seeateepda eepateepta 241 qeatapeevt ksqpekwdee aqdaageeek eqekekdaen kvknskgt // LOCUS NP_001229261 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin specific peptidase 17 like family member 29 [Homo sapiens]. ACCESSION NP_001229261 XP_001130464 VERSION NP_001229261.1 DBSOURCE REFSEQ: accession NM_001242332.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC116655.7. On May 28, 2011 this sequence version replaced XP_001130464.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000511681.1/ ENSP00000422969.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin specific peptidase 17 like family member 29" /calculated_mol_wt=59580 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L29" /coded_by="NM_001242332.1:1..1593" /db_xref="CCDS:CCDS59470.1" /db_xref="GeneID:728405" /db_xref="HGNC:HGNC:44457" ORIGIN 1 meddslylrg 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 daevtassit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel 421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllnls sstpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_001243798 530 aa linear PRI 01-JUL-2020 DEFINITION inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 7 [Homo sapiens]. ACCESSION NP_001243798 VERSION NP_001243798.1 DBSOURCE REFSEQ: accession NM_001256869.2 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 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC130366.6. 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 :: ENST00000530447.5/ ENSP00000485337.2 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="inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 7" /note="ubiquitin specific peptidase 17-like 7" /calculated_mol_wt=59620 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L7" /coded_by="NM_001256869.2:91..1683" /db_xref="CCDS:CCDS78305.1" /db_xref="GeneID:392197" /db_xref="HGNC:HGNC:37180" ORIGIN 1 meddslylgg dwqfnhfskl tssrldaafa eiqrtslsek splssetrfd lcddlapvar 61 qlapreklpl ssrrpaavga glqkigntfy vnvslqclty tlplsnymls redsqtchlh 121 kccmfctmqa hitwalhspg hviqpsqvla agfhrgeqed aheflmftvd amkkaclpgh 181 kqldhhskdt tlihqifgay wrsqikylhc hgvsdtfdpy ldialdiqaa qsvkqaleql 241 vkpkelngen ayhcglclqk apasktltlp tsakvlilvl krfsdvtgnk laknvqypkc 301 rdmqpymsqq ntgplvyvly avlvhagwsc hnghyfsyvk aqegqwykmd daevtasgit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rpatqgelkr dhpclqvpel 421 dehlveratq estldhwkfp qeqnktkpef nvrkvegtlp pnvlvihqsk ykcgmknhhp 481 eqqssllnls stkptdqesm ntgtlaslqg strrskgnnk hskrsllvcq // LOCUS NP_001010889 476 aa linear PRI 01-JUL-2020 DEFINITION PRAME family member 6 [Homo sapiens]. ACCESSION NP_001010889 XP_496345 VERSION NP_001010889.1 DBSOURCE REFSEQ: accession NM_001010889.2 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 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 REFERENCE 2 (residues 1 to 476) 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 BC101342.2 and AL358783.7. On Jan 27, 2005 this sequence version replaced XP_496345.1. ##Evidence-Data-START## Transcript exon combination :: BC101342.2 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000376189.5/ ENSP00000365360.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..476 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.21" Protein 1..476 /product="PRAME family member 6" /calculated_mol_wt=54721 Region 97..124 /region_name="LRR 1, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1)" Region 179..203 /region_name="LRR 2, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1)" Region 204..230 /region_name="LRR 3, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1)" Region 231..266 /region_name="LRR 4, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1)" Region 267..292 /region_name="LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1)" Region 293..324 /region_name="LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1)" Region 325..345 /region_name="LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1)" Region 349..376 /region_name="LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1)" Region 377..401 /region_name="LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VXH4.1)" CDS 1..476 /gene="PRAMEF6" /coded_by="NM_001010889.2:87..1517" /db_xref="CCDS:CCDS30594.1" /db_xref="GeneID:440561" /db_xref="HGNC:HGNC:30583" ORIGIN 1 msirtpprll elagrsllrd qalamstlee lptelfpplf meafsrrrce alklmvqawp 61 frrlplrpli kmpcleafqa vldgldallt qgvhprrwkl qvldlqdvce nfwmvwseam 121 argcflnakr nktpvqdcpr mrgqqpltvf velwlknrtl deyltclllw vkqrkdllhl 181 cckklkilgm pfrnirsilk mvnldciqev evnckwvlpi ltqftpylgh mrnlqklvls 241 hmdvsryvsp eqkkeivtqf ttqflklccl qklsmnsvsf leghldqlls clktslkvlt 301 itncvllesd lkhlsqcpsi sqlktldlsg irltnyslvp lqillekvaa tleyldlddc 361 giidsqvnai lpalsrcfel ntfsfcgnpi smatlenlls htiilknlcv elypapresy 421 dadgtlcwsr faqiraelmk rvrdlrhpkr ilfctdccpd cgnrsfydle adqccc // LOCUS NP_001001914 309 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 2G3 [Homo sapiens]. ACCESSION NP_001001914 XP_377633 VERSION NP_001001914.1 DBSOURCE REFSEQ: accession NM_001001914.1 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] COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AL606804.11. On Aug 30, 2004 this sequence version replaced XP_377633.2. 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]. ##Evidence-Data-START## Transcript is intronless :: BC136712.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000320002.3/ ENSP00000326301.2 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="1" /map="1q44" Protein 1..309 /product="olfactory receptor 2G3" /note="olfactory receptor OR1-33" /calculated_mol_wt=34375 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGZ4.1)" Region 26..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 (Q8NGZ4.1)" Site 58..79 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGZ4.1)" 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 (Q8NGZ4.1)" 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 (Q8NGZ4.1)" 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 (Q8NGZ4.1)" 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 (Q8NGZ4.1)" 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 (Q8NGZ4.1)" CDS 1..309 /gene="OR2G3" /gene_synonym="OR1-33" /coded_by="NM_001001914.1:1..930" /db_xref="CCDS:CCDS31093.1" /db_xref="GeneID:81469" /db_xref="HGNC:HGNC:15008" ORIGIN 1 mglgnesslm dfillgfsdh prleavlfvf vlffylltlv gnftiiiisy ldpplhtpmy 61 fflsnlslld icfttslapq tlvnlqrpkk tityggcvaq lyislalgst ecilladmal 121 dryiavckpl hyvvimnprl cqqlasiswl sglassliha tftlqlplcg nhrldhfice 181 vpallklacv dttvnelvlf vvsvlfvvip palisisygf itqavlriks vearhkafst 241 csshltvvii fygtiiyvyl qpsdsyaqdq gkfislfytm vtptlnpiiy tlrnkdmkea 301 lrkllsgkl // LOCUS NP_001123357 179 aa linear PRI 01-JUL-2020 DEFINITION putative cleavage and polyadenylation specificity factor subunit 4-like protein [Homo sapiens]. ACCESSION NP_001123357 XP_001718191 XP_931334 XP_945726 VERSION NP_001123357.1 DBSOURCE REFSEQ: accession NM_001129885.1 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 179) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC157870.1. On or before Jul 10, 2008 this sequence version replaced XP_945726.3, XP_931334.3, XP_001718191.1. ##Evidence-Data-START## Transcript exon combination :: BC157870.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2142586 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000344935.8/ ENSP00000343900.4 RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..179 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q25.1" Protein 1..179 /product="putative cleavage and polyadenylation specificity factor subunit 4-like protein" /calculated_mol_wt=20596 Region 12..>160 /region_name="YTH1" /note="Cleavage and polyadenylation specificity factor (CPSF) Clipper subunit and related makorin family Zn-finger proteins [General function prediction only]; COG5084" /db_xref="CDD:227416" CDS 1..179 /gene="CPSF4L" /coded_by="NM_001129885.1:63..602" /db_xref="CCDS:CCDS45768.1" /db_xref="GeneID:642843" /db_xref="HGNC:HGNC:33632" ORIGIN 1 mqeviagler ftfafekdve mqkgtgllpf qgmdksasav cnfftkglce kgklcpfrhd 61 rgekmvvckh wlrglckkgd hckflhqydl trmpecyfys kfgdcsnkec sflhvkpafk 121 sqdcpwydqg fckdgplcky rhvprimcln ylvgfcpegp kcqfaqkire fkllpgski // LOCUS NP_001243783 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin carboxyl-terminal hydrolase 17-like protein 11 [Homo sapiens]. ACCESSION NP_001243783 XP_002342472 VERSION NP_001243783.1 DBSOURCE REFSEQ: accession NM_001256854.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC108519.4. On Mar 2, 2012 this sequence version replaced XP_002342472.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000457736.1/ ENSP00000400880.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin carboxyl-terminal hydrolase 17-like protein 11" /EC_number="3.4.19.12" /calculated_mol_wt=59499 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L11" /coded_by="NM_001256854.1:1..1593" /db_xref="CCDS:CCDS59455.1" /db_xref="GeneID:100287178" /db_xref="HGNC:HGNC:44439" 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 ldmqpymsqt 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 NP_001005495 318 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 2T3 [Homo sapiens]. ACCESSION NP_001005495 VERSION NP_001005495.1 DBSOURCE REFSEQ: accession NM_001005495.1 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 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 PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AC138089.2. 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]. ##Evidence-Data-START## Transcript is intronless :: BC136915.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000359594.3/ ENSP00000352604.2 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="1" /map="1q44" Protein 1..318 /product="olfactory receptor 2T3" /note="seven transmembrane helix receptor" /calculated_mol_wt=35468 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NH03.2)" Site 10 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NH03.2)" Site 31..54 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH03.2)" Region 38..310 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 46..295 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 63..84 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH03.2)" Site 106..125 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH03.2)" Site 145..163 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH03.2)" Site 201..224 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH03.2)" Site 242..264 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH03.2)" Site 278..297 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH03.2)" CDS 1..318 /gene="OR2T3" /coded_by="NM_001005495.1:1..957" /db_xref="CCDS:CCDS31117.1" /db_xref="GeneID:343173" /db_xref="HGNC:HGNC:14727" ORIGIN 1 mcsgnqtsqn qtastdftlt glfaeskhaa llytvtfllf lmaltgnall illihseprl 61 htpmyffisq lalmdlmylc vtvpkmlvgq vtgddtisps gcgiqmffyl tlagaevfll 121 aamaydryaa vcrplhypll mnqrvcqllv sacwvlgmvd gllltpitms fpfcqsrkil 181 sffcetpall klscsdvsly ktlmylccil mllapimvis ssytlilhli hrmnsaaghr 241 kalatcsshm iivlllfgas fytymlpssy htaeqdmmvs afytiftpvl npliyslrnk 301 dvtralrsmm qsrmnqek // LOCUS NP_001035194 4493 aa linear PRI 01-JUL-2020 DEFINITION mucin-17 precursor [Homo sapiens]. ACCESSION NP_001035194 XP_001720008 VERSION NP_001035194.1 DBSOURCE REFSEQ: accession NM_001040105.2 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 4493) AUTHORS Schneider H, Berger E, Dolan B, Martinez-Abad B, Arike L, Pelaseyed T and Hansson GC. TITLE The human transmembrane mucin MUC17 responds to TNFalpha by increased presentation at the plasma membrane JOURNAL Biochem. J. 476 (16), 2281-2295 (2019) PUBMED 31387973 REMARK GeneRIF: Overexpression and increased presentation at the plasma membrane of wild-type MUC17 and its phosphodeficient variant MUC17 S-4492A protected Caco-2 cells against adhesion of enteropathogenic Escherichia coli, indicating that C-terminal phosphorylation of MUC17 may play a functional role in epithelial cell protection. Publication Status: Online-Only REFERENCE 2 (residues 1 to 4493) AUTHORS Yang B, Wu A, Hu Y, Tao C, Wang JM, Lu Y and Xing R. TITLE Mucin 17 inhibits the progression of human gastric cancer by limiting inflammatory responses through a MYH9-p53-RhoA regulatory feedback loop JOURNAL J. Exp. Clin. Cancer Res. 38 (1), 283 (2019) PUBMED 31262330 REMARK GeneRIF: MUC17 inactivated NFkappaB to inhibit gastric cancer cell proliferation in response to pro-inflammatory cytokines. The MUC17 function was dependent on its conserved epidermal growth factor domain and on downstream sequences to enable its interaction with myosin-9, resulting in a regulatory feedback loop between myosin-9, p53, and RhoA, and then activation of p38 to negatively regulate the NFkappaB pathway in gastric ca... Publication Status: Online-Only REFERENCE 3 (residues 1 to 4493) 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 4 (residues 1 to 4493) AUTHORS Yang CW, Chang CY, Lai MT, Chang HW, Lu CC, Chen Y, Chen CM, Lee SC, Tsai PW, Yang SH, Lin CH, Sheu JJ and Tsai FJ. TITLE Genetic variations of MUC17 are associated with endometriosis development and related infertility JOURNAL BMC Med. Genet. 16, 60 (2015) PUBMED 26285705 REMARK GeneRIF: MUC17 polymorphisms are involved in endometriosis development and the associated infertility in the Taiwanese population. Publication Status: Online-Only REFERENCE 5 (residues 1 to 4493) AUTHORS Niv Y, Boltin D, Halpern M, Cohen M, Levi Z, Vilkin A, Morgenstern S, Manugian V, St Lawrence E, Gagneux P, Kaur S, Sharma P, Batra SK and Ho SB. TITLE Membrane-bound mucins and mucin terminal glycans expression in idiopathic or Helicobacter pylori, NSAID associated peptic ulcers JOURNAL World J. Gastroenterol. 20 (40), 14913-14920 (2014) PUBMED 25356051 REFERENCE 6 (residues 1 to 4493) 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 4493) AUTHORS Ho JJ, Jaituni RS, Crawley SC, Yang SC, Gum JR and Kim YS. TITLE N-glycosylation is required for the surface localization of MUC17 mucin JOURNAL Int. J. Oncol. 23 (3), 585-592 (2003) PUBMED 12888891 REMARK GeneRIF: surface localization of the smaller subunit of MUC17 is dependent on its N-glycosylation status REFERENCE 8 (residues 1 to 4493) AUTHORS Wang R, Khatri IA and Forstner JF. TITLE C-terminal domain of rodent intestinal mucin Muc3 is proteolytically cleaved in the endoplasmic reticulum to generate extracellular and membrane components JOURNAL Biochem. J. 366 (Pt 2), 623-631 (2002) PUBMED 12027806 REFERENCE 9 (residues 1 to 4493) AUTHORS Gum JR Jr, Crawley SC, Hicks JW, Szymkowski DE and Kim YS. TITLE MUC17, a novel membrane-tethered mucin JOURNAL Biochem. Biophys. Res. Commun. 291 (3), 466-475 (2002) PUBMED 11855812 REMARK GeneRIF: sequence homology & chromosome mapping REFERENCE 10 (residues 1 to 4493) AUTHORS Van Klinken BJ, Van Dijken TC, Oussoren E, Buller HA, Dekker J and Einerhand AW. TITLE Molecular cloning of human MUC3 cDNA reveals a novel 59 amino acid tandem repeat region JOURNAL Biochem. Biophys. Res. Commun. 238 (1), 143-148 (1997) PUBMED 9299468 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC105446.4, AJ606307.1, BM773519.1, BM768498.1 and BM987743.1. This sequence is a reference standard in the RefSeqGene project. On Mar 29, 2008 this sequence version replaced XP_001720008.1. Summary: The protein encoded by this gene is a membrane-bound mucin that provides protection to gut epithelial cells. The encoded protein contains about 60 tandem repeats, with each repeat being around 60 aa. N-glycosylation enables the encoded protein to localize on the cell surface, while the C-terminus interacts with the scaffold protein PDZ domain containing 1 (PDZK1). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015]. Transcript Variant: This variant (1) represents the longer transcript and is the protein-coding variant. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ606307.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000306151.9/ ENSP00000302716.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..4493 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q22.1" Protein 1..4493 /product="mucin-17 precursor" /note="small intestinal mucin MUC3; membrane mucin MUC17; secreted mucin MUC17; small intestinal mucin-3" /calculated_mol_wt=449183 sig_peptide 1..25 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2578 Region 4190..4276 /region_name="SEA" /note="SEA domain; pfam01390" /db_xref="CDD:279699" CDS 1..4493 /gene="MUC17" /gene_synonym="MUC-17; MUC-3; MUC3" /coded_by="NM_001040105.2:56..13537" /db_xref="CCDS:CCDS34711.1" /db_xref="GeneID:140453" /db_xref="HGNC:HGNC:16800" /db_xref="MIM:608424" ORIGIN 1 mprpgtmalc lltlvlsllp pqaaaeqdls vnravwdggg cisqgdvlnr qcqqlsqhvr 61 tgsaantatg ttstnvvepr mylscstnpe mtsiessvts dtpgvsstrm tptesrttse 121 stsdsttlfp sstedtsspt tpegtdvpms tpseesisst mafvstaplp sfeaytslty 181 kvdmstpltt stqasssptt pesttipkst nsegstplts mpastmkvas seaitllttp 241 veistpvtis aqasssptta egpslsnsap sggstpltrm plsvmlvvss eastlsttpa 301 atnipvitst eassspttae gtsiptstyt egstpltstp astmpvatse mstlsitpvd 361 tstlvttste psslpttaea tsmltstlse gstpltnmpv stilvassea sttstipvds 421 ktfvttasea ssspttaedt siatstpseg stpltsmpvs ttpvasseas nlsttpvdsk 481 tqvttsteas sspptaevns mptstpsegs tpltsmsvst mpvasseast lsttpvdtst 541 pvttsseass ssttpegtsi ptstpsegst pltnmpvstr lvvsseastt sttpadsntf 601 vttsseasss sttaegtsmp tstysergtt itsmsvsttl vasseastls ttpvdsntpv 661 ttsteatsss ttaegtsmpt stytegstpl tsmpvnttlv asseastlst tpvdtstpvt 721 tsteassspt tadgasmpts tpsegstplt smpvsktllt sseastlstt pldtsthitt 781 steascsptt tegtsmpist psegspllts ipvsitpvts peastlsttp vdsnspvtts 841 tevsssptpa egtsmptsty segrtpltsm pvsttlvats aistlsttpv dtstpvtnst 901 earsspttse gtsmptstpg egstpltsmp dsttpvvsse artlsatpvd tstpvttste 961 atsspttaeg tsiptstpse gttpltstpv shtlvansea stlsttpvds ntplttstea 1021 ssppptaegt smptstpseg stpltrmpvs ttmvassets tlsttpadts tpvttysqas 1081 sssttadgts mptstysegs tpltsvpvst rlvvsseast lsttpvdtsi pvttsteass 1141 spttaegtsi ptsppsegtt plasmpvstt lvvsseantl sttpvdsktq vatsteassp 1201 pptaevtsmp tstpgerstp ltsmpvrhtp vasseastls tspvdtstpv ttsaetsssp 1261 ttaegtslpt sttsegstll tsipvsttlv tspeastllt tpvdtkgpvv tsnevssspt 1321 paegtsmpts tysegrtplt sipvnttlva ssaisilstt pvdnstpvtt steacssptt 1381 segtsmpnsn psegttplts ipvsttpvvs seastlsatp vdtstpgtts aeatssptta 1441 egisiptstp segktplksi pvsntpvans eastlsttpv dsnspvvtst avsssptpae 1501 gtsiaistps egstaltsip vstttvasse inslsttpav tstpvttysq assspttadg 1561 tsmqtstyse gstpltslpv stmlvvssea ntlsttpids ktqvtastea sssttaegss 1621 mtistpsegs plltsipvst tpvaspeast lsttpvdsns pvitstevss sptpaegtsm 1681 ptstytegrt pltsitvrtt pvassaistl sttpvdnstp vttstearss pttsegtsmp 1741 nstpsegttp ltsipvsttp vlsseastls atpidtstpv ttsteatssp ttaegtsipt 1801 stlsegmtpl tstpvshtlv anseastlst tpvdsnspvv tstavssspt paegtsiats 1861 tpsegstalt sipvstttva ssetntlstt pavtstpvtt yaqvsssptt adgssmptst 1921 pregrpplts ipvstttvas seintlsttl adtrtpvtty sqasssptta dgtsmptpay 1981 segstpltsm plsttlvvss eastlsttpv dtstpattst egssspttag gtsiqtstps 2041 erttplagmp vsttlvvsse gntlsttpvd sktqvtnste asssataegs smtisapseg 2101 splltsipls ttpvaspeas tlsttpvdsn spvitstevs sspiptegts mqtstysdrr 2161 tpltsmpvst tvvassaist lsttpvdtst pvtnstears spttsegtsm ptstpsegst 2221 pftsmpvstm pvvtseastl satpvdtstp vttsteatss pttaegtsip tstlsegttp 2281 ltsipvshtl vansevstls ttpvdsntpf ttsteasspp ptaegtsmpt stssegntpl 2341 trmpvsttmv asfetstlst tpadtstpvt tysqagsspt taddtsmpts tysegstplt 2401 svpvstmpvv sseasthstt pvdtstpvtt steasssptt aegtsiptsp psegttplas 2461 mpvsttpvvs seagtlsttp vdtstpmtts teasssptta edivvpista segstlltsi 2521 pvsttpvasp eastlsttpv dsnspvvtst eisssatsae gtsmptstys egstplrsmp 2581 vstkplasse astlsttpvd tsipvttste tssspttakd tsmpistpse vstsltsilv 2641 stmpvassea stlsttpvdt rtlvttstgt ssspttaegs smptstpger stpltnilvs 2701 ttllanseas tlsttpvdts tpvttsaeas sspttaegts mristpsdgs tpltsilvst 2761 lpvasseast vsttavdtsi pvttsteass spttaevtsm ptstpsetst pltsmpvnht 2821 pvasseagtl sttpvdtstp vttstkasss pttaegivvp istasegstl ltsipvsttp 2881 vasseastls ttpvdtsipv ttstegsssp ttaegtsmpi stpsevstpl tsilvstvpv 2941 agseastlst tpvdtrtpvt tsaeassspt taegtsmpis tpgerrtplt smsvstmpva 3001 sseastlsrt padtstpvtt steasssptt aegtgipist psegstplts ipvsttpvai 3061 peastlsttp vdsnspvvts tevsssptpa egtsmpisty segstpltgv pvsttpvtss 3121 aistlsttpv dtstpvttst eahsspttse gtsmptstps egstpltymp vstmlvvsse 3181 dstlsatpvd tstpvttste atssttaegt siptstpseg mtpltsvpvs ntpvasseas 3241 ilsttpvdsn tplttsteas sspptaegts mptstpsegs tpltsmpvst ttvassetst 3301 lsttpadtst pvttysqass sppiadgtsm ptstysegst pltnmsfstt pvvsseastl 3361 sttpvdtstp vttsteasls pttaegtsip tsspsegttp lasmpvsttp vvssevntls 3421 ttpvdsntlv ttsteasssp tiaegtslpt sttsegstpl simplsttpv asseastlst 3481 tpvdtstpvt tssptnsspt taevtsmpts tagegstplt nmpvsttpva sseastlstt 3541 pvdsntfvts ssqassspat lqvttmrmst psegsssltt mllsstyvts seastpstps 3601 vdrstpvtts tqsnstptpp evitlpmstp sevstpltim pvsttsvtis eagtastlpv 3661 dtstpvitst qvssspvtpe gttmpiwtps egstplttmp vsttrvtsse gstlstpsvv 3721 tstpvttste aisssatlds ttmsvsmpme istlgttilv sttpvtrfpe sstpsipsvy 3781 tsmsmttase gssspttleg tttmpmstts erstllttvl ispisvmsps eastlstppg 3841 dtstplltst kagsfsipae vttirisits erstplttll vsttlptsfp gasiastppl 3901 dtsttftpst dtastptipv attisvsvit egstpgttif ipstpvtsst advfpattga 3961 vstpvitste lntpstssss tttsfsttke fttpamttaa pltyvtmsta pstprttsrg 4021 cttsastlsa tstphtstsv ttrpvtpsse ssrpstitsh tipptfppah sstppttsas 4081 sttvnpeavt tmttrtkpst rttsfptvtt tavptnttik snptstptvp rtttcfgdgc 4141 qntasrckng gtwdglkcqc pnlyygelce evvssidigp petisaqmel tvtvtsvkft 4201 eelknhssqe fqefkqtfte qmnivysgip eyvgvnitkl rlgsvvvehd vllrtkytpe 4261 yktvldnate vvkekitkvt tqqimindic sdmmcfnttg tqvqnitvtq ydpeedcrkm 4321 akeygdyfvv eyrdqkpyci spcepgfsvs kncnlgkcqm slsgpqclcv ttethwysge 4381 tcnqgtqksl vyglvgagvv lmliilvall mlvfrskrev krqkyrlsql ykwqeedsgp 4441 apgtfqnigf dicqdddsih lesiysnfqp slrhidpetk iriqrpqvmt tsf // LOCUS NP_006180 163 aa linear PRI 01-JUL-2020 DEFINITION olfactory marker protein [Homo sapiens]. ACCESSION NP_006180 VERSION NP_006180.1 DBSOURCE REFSEQ: accession NM_006189.1 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 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) REFERENCE 3 (residues 1 to 163) AUTHORS Behrens M, Margolis JW and Margolis FL. TITLE Identification of members of the Bex gene family as olfactory marker protein (OMP) binding partners JOURNAL J. Neurochem. 86 (5), 1289-1296 (2003) PUBMED 12911636 REFERENCE 4 (residues 1 to 163) AUTHORS Baldisseri DM, Margolis JW, Weber DJ, Koo JH and Margolis FL. TITLE Olfactory marker protein (OMP) exhibits a beta-clam fold in solution: implications for target peptide interaction and olfactory signal transduction JOURNAL J. Mol. Biol. 319 (3), 823-837 (2002) PUBMED 12054873 REFERENCE 5 (residues 1 to 163) AUTHORS Buiakova OI, Baker H, Scott JW, Farbman A, Kream R, Grillo M, Franzen L, Richman M, Davis LM, Abbondanzo S, Stewart CL and Margolis FL. TITLE Olfactory marker protein (OMP) gene deletion causes altered physiological activity of olfactory sensory neurons JOURNAL Proc. Natl. Acad. Sci. U.S.A. 93 (18), 9858-9863 (1996) PUBMED 8790421 REFERENCE 6 (residues 1 to 163) AUTHORS Breer H, Wanner I and Strotmann J. TITLE Molecular genetics of mammalian olfaction JOURNAL Behav. Genet. 26 (3), 209-219 (1996) PUBMED 8754248 REMARK Review article REFERENCE 7 (residues 1 to 163) AUTHORS Buiakova OI, Krishna NS, Getchell TV and Margolis FL. TITLE Human and rodent OMP genes: conservation of structural and regulatory motifs and cellular localization JOURNAL Genomics 20 (3), 452-462 (1994) PUBMED 8034318 REFERENCE 8 (residues 1 to 163) AUTHORS Evans KL, Fantes J, Simpson C, Arveiler B, Muir W, Fletcher J, van Heyningen V, Steel KP, Brown KA, Brown SD et al. TITLE Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I JOURNAL Hum. Mol. Genet. 2 (2), 115-118 (1993) PUBMED 8499899 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AP000752.4. Summary: Olfactory marker protein is uniquely associated with the mature olfactory receptor neurons in many vertebrate species from fish to man. The OMP gene structure and protein sequence are highly conserved between mouse, rat and human. Results of the mouse knockout studies show that OMP-null mice are compromised in their ability to respond to odor stimuli, and that OMP represents a novel modulatory component of the odor detection/signal transduction cascade. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: BC069365.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000529803.1/ ENSP00000436376.1 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="11" /map="11q13.5" Protein 1..163 /product="olfactory marker protein" /note="olfactory neuronal-specific protein" /calculated_mol_wt=18805 Site 2 /site_type="acetylation" /note="N-acetylalanine. /evidence=ECO:0000250|UniProtKB:P08523; propagated from UniProtKB/Swiss-Prot (P47874.2)" Region 11..161 /region_name="Olfactory_mark" /note="Olfactory marker protein; pfam06554" /db_xref="CDD:310865" CDS 1..163 /gene="OMP" /coded_by="NM_006189.1:1..492" /note="intronless open reading frame" /db_xref="CCDS:CCDS53682.1" /db_xref="GeneID:4975" /db_xref="HGNC:HGNC:8136" /db_xref="MIM:164340" ORIGIN 1 maedrpqqpq ldmplvldqg ltrqmrlrve slkqrgekrq dgekllqpae svyrlnftqq 61 qrlqferwnv vldkpgkvti tgtsqnwtpd ltnlmtrqll dptaifwrke dsdaidwnea 121 dalefgerls dlakirkvmy flvtfgegve panlkasvvf nql // LOCUS NP_075389 474 aa linear PRI 01-JUL-2020 DEFINITION PRAME family member 1 isoform 1 [Homo sapiens]. ACCESSION NP_075389 VERSION NP_075389.2 DBSOURCE REFSEQ: accession NM_023013.4 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 Birtle Z, Goodstadt L and Ponting C. TITLE Duplication and positive selection among hominin-specific PRAME genes JOURNAL BMC Genomics 6, 120 (2005) PUBMED 16159394 REMARK Publication Status: Online-Only COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA903707.1, AL049686.1, BC144199.1 and AC244670.3. This sequence is a reference standard in the RefSeqGene project. On Jun 25, 2014 this sequence version replaced NP_075389.1. Summary: This gene is a member of the PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. Alternative promoter usage generates two transcript variants, which encode different isoforms. [provided by RefSeq, Jun 2014]. 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 :: AK125568.1, BC144199.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000332296.7/ ENSP00000332134.7 RefSeq Select criteria :: based on expression, longest protein ##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 1 isoform 1" /calculated_mol_wt=55018 Region 97..124 /region_name="LRR 1, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O95521.3)" Region 179..203 /region_name="LRR 2, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O95521.3)" Region 204..230 /region_name="LRR 3, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O95521.3)" Region 231..265 /region_name="LRR 4, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O95521.3)" Region 266..291 /region_name="LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O95521.3)" Region 292..323 /region_name="LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O95521.3)" Region 324..342 /region_name="LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O95521.3)" Region 348..375 /region_name="LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O95521.3)" Region 376..400 /region_name="LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O95521.3)" CDS 1..474 /gene="PRAMEF1" /coded_by="NM_023013.4:104..1528" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS148.1" /db_xref="GeneID:65121" /db_xref="HGNC:HGNC:28840" ORIGIN 1 msiqapprll elagqsllrd qalsisamee lprvlylplf meafsrrhfq tltvmvqawp 61 ftclplgslm ktlhletlka lleglhmllt qkdrprrwkl qvldlrdvde nfwarwpgaw 121 alscfpetts krqtaedcpr mgehqplkvf idiclkeipq declrylfqw vyqrrglvhl 181 ccsklvnylt pikylrkslk iiylnsiqel eirnmswprl irklrcylke mknlrklvfs 241 rchhytsdne legrlvakfs svflrlehlq llkiklitff sghleqlirc lqnplenlel 301 tygylleedm kclsqypslg ylkhlnlsyv llfrislepl gallekiaas lktlilegcq 361 ihysqlsail pglsrcsqlt tfyfgrncms idalkdllrh tsglsklsle typapeesln 421 slvrvnweif tplraelmct lrevrqpkri figptpcpsc gsspseelel hlcc // LOCUS NP_001004477 326 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 10X1 [Homo sapiens]. ACCESSION NP_001004477 XP_060952 VERSION NP_001004477.1 DBSOURCE REFSEQ: accession NM_001004477.1 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 326) 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 326) 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 326) 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 326) 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 BK004194.1. On Sep 19, 2004 this sequence version replaced XP_060952.3. 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. 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. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000623167.1/ ENSP00000485609.1 polymorphic pseudogene :: PMID: 22908908 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..326 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q23.1" Protein 1..326 /product="olfactory receptor 10X1" /note="olfactory receptor, family 10, subfamily X, member 1 pseudogene; olfactory receptor OR1-14; olfactory receptor OR1-13 pseudogene" /calculated_mol_wt=36315 Site 21 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGY0.2)" Site 42..62 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGY0.2)" Region 48..318 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Site 71..91 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGY0.2)" Site 116..136 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGY0.2)" Site 156..176 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGY0.2)" Site 209 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGY0.2)" Site 214..233 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGY0.2)" Site 254..274 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGY0.2)" Site 285..305 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGY0.2)" CDS 1..326 /gene="OR10X1" /gene_synonym="OR1-13; OR1-14; OR10X1P" /coded_by="NM_001004477.1:1..981" /db_xref="GeneID:128367" /db_xref="HGNC:HGNC:14995" ORIGIN 1 mvlnvyccff qisdiqtmki nqtilkefil vgfsvyphvq tflfvvffcl ylltlagnli 61 imgltwvdrs lhtpmylfls alsfsetcyt ltivpkmled llakdrsisv tgcslqmcff 121 lglggtncii ltlmgydrfl aicnplrypl lmtnivcgql vasactagff isltetalif 181 rdsfcrpnlv khffchmlav irlscidsnh tefiitlisv sgllgtllli iltdvfiist 241 vlripsaegk qkafttcash ltvviihfgf asivylkpea sgddtliavp ytvitpflsp 301 iifslrnkdm knafrrmmgn tvalkk // LOCUS NP_001497 356 aa linear PRI 01-JUL-2020 DEFINITION probable G-protein coupled receptor 32 [Homo sapiens]. ACCESSION NP_001497 VERSION NP_001497.1 DBSOURCE REFSEQ: accession NM_001506.2 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 356) AUTHORS Zheng S, Wang Q, D'Souza V, Bartis D, Dancer R, Parekh D, Gao F, Lian Q, Jin S and Thickett DR. TITLE ResolvinD1 stimulates epithelial wound repair and inhibits TGF-beta-induced EMT whilst reducing fibroproliferation and collagen production JOURNAL Lab. Invest. 98 (1), 130-140 (2018) PUBMED 29083412 REMARK GeneRIF: Data suggest that resolvin D1/RVDR1 signaling (1) promotes epithelial wound repair, (2) inhibits TGFB-induced epithelial-mesenchymal transition in type II alveolar cells, (3) inhibits fibroproliferation and apoptosis, (4) reduces effects of TGFB on primary lung fibroblast collagen production, and (5) inhibits myofibroblast differentiation. (TGFB = transforming growth factor beta) REFERENCE 2 (residues 1 to 356) AUTHORS Taylan A, Gurler O, Toprak B, Sisman AR, Yalcin H, Colak A and Sari I. TITLE S1000A12, Chitotriosidase, and Resolvin D1 as Potential Biomarkers of Familial Mediterranean Fever JOURNAL J. Korean Med. Sci. 30 (9), 1241-1245 (2015) PUBMED 26339162 REMARK GeneRIF: Our findings indicate that chitotriosidase and S10012A are useful in diagnosis and detection of subclinical inflammation and/or assessment of disease activity in FMF patients. REFERENCE 3 (residues 1 to 356) AUTHORS Zhao XW, Bao JJ, Hu C, Ding H, Liu XC, Mei Q and Xu JM. TITLE Effect of diclofenac on the levels of lipoxin A4 and Resolvin D1 and E1 in the post-ERCP pancreatitis JOURNAL Dig. Dis. Sci. 59 (12), 2992-2996 (2014) PUBMED 25030943 REMARK GeneRIF: The effects of diclofenac on the incidence of pancreatitis following endoscopic retrograde cholangiopancreatography via lipoxin A4 and resolvin D1 and E1 levels is reported. REFERENCE 4 (residues 1 to 356) AUTHORS Hsiao HM, Thatcher TH, Levy EP, Fulton RA, Owens KM, Phipps RP and Sime PJ. TITLE Resolvin D1 attenuates polyinosinic-polycytidylic acid-induced inflammatory signaling in human airway epithelial cells via TAK1 JOURNAL J. Immunol. 193 (10), 4980-4987 (2014) PUBMED 25320283 REMARK GeneRIF: Resolvin D1 attenuates the viral mimic-induced inflammatory signaling in human airway epithelial cells via TAK1. REFERENCE 5 (residues 1 to 356) AUTHORS Lee HJ, Park MK, Lee EJ and Lee CH. TITLE Resolvin D1 inhibits TGF-beta1-induced epithelial mesenchymal transition of A549 lung cancer cells via lipoxin A4 receptor/formyl peptide receptor 2 and GPR32 JOURNAL Int. J. Biochem. Cell Biol. 45 (12), 2801-2807 (2013) PUBMED 24120851 REMARK GeneRIF: Results suggest that resolvin D1 inhibited TGF-beta1-induced EMT via ALX/FPR2 and GPR32 by reducing the expression of ZEB1. REFERENCE 6 (residues 1 to 356) AUTHORS Im DS. TITLE Omega-3 fatty acids in anti-inflammation (pro-resolution) and GPCRs JOURNAL Prog. Lipid Res. 51 (3), 232-237 (2012) PUBMED 22542696 REMARK Review article REFERENCE 7 (residues 1 to 356) AUTHORS Krishnamoorthy S, Recchiuti A, Chiang N, Yacoubian S, Lee CH, Yang R, Petasis NA and Serhan CN. TITLE Resolvin D1 binds human phagocytes with evidence for proresolving receptors JOURNAL Proc. Natl. Acad. Sci. U.S.A. 107 (4), 1660-1665 (2010) PUBMED 20080636 REMARK GeneRIF: results indicate that RvD1 specifically interacts with both ALX and GPR32 on phagocytes. REFERENCE 8 (residues 1 to 356) AUTHORS Marchese A, Nguyen T, Malik P, Xu S, Cheng R, Xie Z, Heng HH, George SR, Kolakowski LF Jr and O'Dowd BF. TITLE Cloning genes encoding receptors related to chemoattractant receptors JOURNAL Genomics 50 (2), 281-286 (1998) PUBMED 9653656 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC095544.1 and AC010325.7. Summary: This gene is intronless and encodes a member of the G-protein coupled receptor 1 family. The encoded protein binds to resolvin D1 and lipoxin A4 and has been linked to pulmonary inflammation. A related pseudogene has been identified on chromosome 19. [provided by RefSeq, Nov 2012]. ##Evidence-Data-START## Transcript is intronless :: BC095544.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000270590.4/ ENSP00000270590.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..356 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.33" Protein 1..356 /product="probable G-protein coupled receptor 32" /note="resolvin D1 receptor" /calculated_mol_wt=39956 Site 30 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O75388.1)" Site 45..67 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O75388.1)" Region 60..316 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 79..100 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O75388.1)" Site 117..137 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O75388.1)" Site 157..178 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O75388.1)" Site 199 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O75388.1)" Site 221..241 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O75388.1)" Site 258..280 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O75388.1)" Site 301..320 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O75388.1)" CDS 1..356 /gene="GPR32" /gene_synonym="RVDR1" /coded_by="NM_001506.2:138..1208" /db_xref="CCDS:CCDS12801.1" /db_xref="GeneID:2854" /db_xref="HGNC:HGNC:4487" /db_xref="MIM:603195" ORIGIN 1 mngvsegtrg csdrqpgvlt rdrscsrkmn ssgclseevg slrpltvvil sasivvgvlg 61 nglvlwmtvf rmartvstvc ffhlaladfm lslslpiamy yivsrqwllg ewacklyitf 121 vflsyfasnc llvfisvdrc isvlypvwal nhrtvqrasw lafgvwllaa alcsahlkfr 181 ttrkwngcth cylafnsdne taqiwiegvv eghiigtigh fllgflgpla iigtcahlir 241 akllregwvh anrpkrlllv lvsaffifws pfnvvllvhl wrrvmlkeiy hprmllilqa 301 sfalgcvnss lnpflyvfvg rdfqekffqs ltsalarafg eeeflsscpr gnapre // LOCUS NP_001004485 319 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 13F1 [Homo sapiens]. ACCESSION NP_001004485 XP_071099 VERSION NP_001004485.1 DBSOURCE REFSEQ: accession NM_001004485.1 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 319) 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 319) 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 AL450426.7. On Sep 18, 2004 this sequence version replaced XP_071099.6. 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]. ##Evidence-Data-START## Transcript is intronless :: BC140739.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000334726.3/ ENSP00000334452.2 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="9" /map="9q31.1" Protein 1..319 /product="olfactory receptor 13F1" /note="olfactory receptor OR9-6" /calculated_mol_wt=35515 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGS4.1)" Site 26..46 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS4.1)" Region 33..305 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 41..290 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 55..75 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS4.1)" Site 100..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS4.1)" Site 140..160 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS4.1)" Site 198..217 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS4.1)" Site 238..258 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS4.1)" Site 272..292 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS4.1)" CDS 1..319 /gene="OR13F1" /gene_synonym="OR9-6" /coded_by="NM_001004485.1:1..960" /db_xref="CCDS:CCDS35087.1" /db_xref="GeneID:138805" /db_xref="HGNC:HGNC:14723" ORIGIN 1 mfpanwtsvk vffflgffhy pkvqviifav cllmylitll gniflisiti ldshlhtpmy 61 lflsnlsfld iwysssalsp mlanfvsgrn tisfsgcatq mylslamgst ecvllpmmay 121 dryvaicnpl rypvimnrrt cvqiaagswm tgcltamvem msvlplslcg nsiinhftce 181 ilailklvcv dtslvqliml visvlllpmp mllicisyaf ilasilriss vegrskafst 241 ctahlmvvvl fygtalsmhl kpsavdsqei dkfmalvyag qtpmlnpiiy slrnkevkva 301 lkkllirnhf ntafisilk // LOCUS NP_004667 147 aa linear PRI 01-JUL-2020 DEFINITION PTPN13-like protein, Y-linked [Homo sapiens]. ACCESSION NP_004667 VERSION NP_004667.2 DBSOURCE REFSEQ: accession NM_004676.2 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 147) AUTHORS Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, Oates RD, Silber S, van der Veen F, Page DC and Rozen S. TITLE A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region JOURNAL Genomics 83 (6), 1046-1052 (2004) PUBMED 15177557 REFERENCE 2 (residues 1 to 147) 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 147) AUTHORS Stouffs K, Lissens W, Van Landuyt L, Tournaye H, Van Steirteghem A and Liebaers I. TITLE Characterization of the genomic organization, localization and expression of four PRY genes (PRY1, PRY2, PRY3 and PRY4) JOURNAL Mol. Hum. Reprod. 7 (7), 603-610 (2001) PUBMED 11420382 REFERENCE 4 (residues 1 to 147) 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 AF000988.2. This sequence is a reference standard in the RefSeqGene project. On Aug 27, 2002 this sequence version replaced NP_004667.1. Summary: This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. It encodes a protein which has a low degree of similarity to protein tyrosine phosphatase, non-receptor type 13. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF000988.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000303728.5/ ENSP00000302319.1 RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..147 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="Y" /map="Yq11.223" Protein 1..147 /product="PTPN13-like protein, Y-linked" /note="testis-specific PTP-BL-related protein on Y" /calculated_mol_wt=16381 CDS 1..147 /gene="PRY" /gene_synonym="PRY1; PTPN13LY" /coded_by="NM_004676.2:228..671" /db_xref="CCDS:CCDS14799.1" /db_xref="GeneID:9081" /db_xref="HGNC:HGNC:14024" /db_xref="MIM:400019" ORIGIN 1 mgatglgfll swrqdnlngt dcqgcnilyf settgsmcse lslnrglear rkkdlkdsfl 61 wrygkvgcis lplremtawi nppqiseifq gyhqrvhgad alslqtnslr srlssqclgq 121 sfllrtlerg rgfralgdic ghvheed // LOCUS NP_076409 303 aa linear PRI 01-JUL-2020 DEFINITION taste receptor type 2 member 13 [Homo sapiens]. ACCESSION NP_076409 VERSION NP_076409.1 DBSOURCE REFSEQ: accession NM_023920.2 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 303) AUTHORS Allen AL, McGeary JE and Hayes JE. TITLE Polymorphisms in TRPV1 and TAS2Rs associate with sensations from sampled ethanol JOURNAL Alcohol. Clin. Exp. Res. 38 (10), 2550-2560 (2014) PUBMED 25257701 REMARK GeneRIF: Genetic variation in TRPV1 and TAS2Rs influence sensations from sampled EtOH and may potentially influence how individuals initially respond to alcoholic beverages. REFERENCE 2 (residues 1 to 303) AUTHORS Zhang X, Bedigian AV, Wang W and Eggert US. TITLE G protein-coupled receptors participate in cytokinesis JOURNAL Cytoskeleton (Hoboken) 69 (10), 810-818 (2012) PUBMED 22888021 REFERENCE 3 (residues 1 to 303) AUTHORS Dotson CD, Wallace MR, Bartoshuk LM and Logan HL. TITLE Variation in the gene TAS2R13 is associated with differences in alcohol consumption in patients with head and neck cancer JOURNAL Chem. Senses 37 (8), 737-744 (2012) PUBMED 22824251 REMARK GeneRIF: It found a single nucleotide polymorphism (SNP) located within the TAS2R13 gene, which showed a significant association with measures of alcohol consumption assessed via the Alcohol Use Disorders Identification Test (AUDIT). REFERENCE 4 (residues 1 to 303) 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 5 (residues 1 to 303) 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 6 (residues 1 to 303) 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 303) 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 303) 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 303) 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 303) 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 BC095518.1 and 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]. Publication Note: This RefSeq record includes 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 :: BC095518.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000390677.2/ ENSP00000375095.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..303 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12p13.2" Protein 1..303 /product="taste receptor type 2 member 13" /note="taste receptor, family B, member 3; taste receptor, type 2, member 13" /calculated_mol_wt=34987 Region 1..300 /region_name="TAS2R" /note="Taste receptor protein (TAS2R); pfam05296" /db_xref="CDD:283059" Site 8..28 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYV9.1)" Site 56..76 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYV9.1)" Site 86..106 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYV9.1)" Site 129..149 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYV9.1)" Site 162 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NYV9.1)" Site 166 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NYV9.1)" Site 185..205 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYV9.1)" Site 233..253 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYV9.1)" Site 262..282 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYV9.1)" CDS 1..303 /gene="TAS2R13" /gene_synonym="T2R13; TRB3" /coded_by="NM_023920.2:265..1176" /db_xref="CCDS:CCDS8635.1" /db_xref="GeneID:50838" /db_xref="HGNC:HGNC:14919" /db_xref="MIM:604792" ORIGIN 1 mesalpsift lviiaefiig nlsngfivli ncidwvskre lssvdkllii laisrigliw 61 eilvswflal hylaifvsgt glrimifswi vsnhfnlwla tifsifyllk iasfsspafl 121 ylkwrvnkvi lmillgtlvf lflnliqinm hikdwldrye rnttwnfsms dfetfsvsvk 181 ftmtmfsltp ftvafisfll lifslqkhlq kmqlnykghr dprtkvhtna lkivisfllf 241 yasfflcvli swiselyqnt viymlcetig vfspsshsfl lilgnaklrq afllvaakvw 301 akr // LOCUS NP_001009611 478 aa linear PRI 01-JUL-2020 DEFINITION PRAME family member 4 [Homo sapiens]. ACCESSION NP_001009611 XP_291396 VERSION NP_001009611.2 DBSOURCE REFSEQ: accession NM_001009611.4 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 478) AUTHORS Li B, Li T, Pignon JC, Wang B, Wang J, Shukla SA, Dou R, Chen Q, Hodi FS, Choueiri TK, Wu C, Hacohen N, Signoretti S, Liu JS and Liu XS. TITLE Landscape of tumor-infiltrating T cell repertoire of human cancers JOURNAL Nat. Genet. 48 (7), 725-732 (2016) PUBMED 27240091 REMARK GeneRIF: PRAMEF4 mutation is associated with cancer. 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_001009611.1. 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 :: AL049681.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000235349.6/ ENSP00000235349.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..478 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.21" Protein 1..478 /product="PRAME family member 4" /note="RP5-845O24.6" /calculated_mol_wt=55308 Region 99..126 /region_name="LRR 1, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60810.5)" Region 181..205 /region_name="LRR 2, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60810.5)" Region 206..232 /region_name="LRR 3, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60810.5)" Region 233..268 /region_name="LRR 4, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60810.5)" Region 269..294 /region_name="LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60810.5)" Region 295..326 /region_name="LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60810.5)" Region 327..347 /region_name="LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60810.5)" Region 351..378 /region_name="LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60810.5)" Region 379..403 /region_name="LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60810.5)" CDS 1..478 /gene="PRAMEF4" /coded_by="NM_001009611.4:72..1508" /db_xref="CCDS:CCDS30592.1" /db_xref="GeneID:400735" /db_xref="HGNC:HGNC:31971" ORIGIN 1 mkmsiwtppr llelagrsll rdqalamstl eelptelfpp lfmeafsrrr cealklmvqs 61 wpfrrlplrp likmpcleaf qavldgldal lnlgvrprrw klqvldlqdv cenfwmvwse 121 amahgcflna krnkkpvedc prmkgrqplt vfvelwlknr tldeyltcll lwvkqrkdll 181 hlcckklkil gmpfrnirsi lkmvnldciq evevnckwvl piltqftpyl ghmrnlqkli 241 lshmdvsryv speqkkeivt qfttqflklr clqklymnsv sfleghldql lsclktslkf 301 ltitncvlle sdlkhlsqcp sisqlktldl sgirltnysl vplqillekv aatleyldld 361 dcgiidsqvn ailpalsrcf elntfsfcgn picmatlenl lshtiilknl cvelypapre 421 sygadgtlcw srfaqirael mnrvrdlrhp krilfctdyc pdcgnrsfyd leadqycc // LOCUS NP_001243791 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin carboxyl-terminal hydrolase 17-like protein 21 [Homo sapiens]. ACCESSION NP_001243791 XP_002342479 VERSION NP_001243791.1 DBSOURCE REFSEQ: accession NM_001256862.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC108519.4. On Mar 3, 2012 this sequence version replaced XP_002342479.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000506414.1/ ENSP00000422216.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin carboxyl-terminal hydrolase 17-like protein 21" /EC_number="3.4.19.12" /calculated_mol_wt=59528 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L21" /coded_by="NM_001256862.1:1..1593" /db_xref="CCDS:CCDS59462.1" /db_xref="GeneID:100287478" /db_xref="HGNC:HGNC:44449" ORIGIN 1 meedslylgg ewqfnhfskl tssrpdaafa eiqrtslpek splscetrvd lcddlapvar 61 qlapreklpl snrrpaavga glqnmgntcy vnaslqclty tpplanymls rehsqtchrh 121 kgcmlctmqa hitralhnpg hviqpsqala agfhrgkqed aheflmftvd amkkaclpgh 181 kqvdhhskdt tlihqifggy wrsqikclhc hgisdtfdpy ldialdiqaa qsvqqaleql 241 vkpeelngen ayhcgvclqr apaskmltll tsakvlilvl krfsdvtgnk iaknvqypec 301 ldmqpymsqp ntgplvyvly avlvhagwsc hnghyfsyvk aqegqwykmd daevtassit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel 421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllnls sstpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_001138914 508 aa linear PRI 01-JUL-2020 DEFINITION putative POTE ankyrin domain family member M [Homo sapiens]. ACCESSION NP_001138914 VERSION NP_001138914.1 DBSOURCE REFSEQ: accession NM_001145442.1 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 508) AUTHORS Chang KW, Yang PY, Lai HY, Yeh TS, Chen TC and Yeh CT. TITLE Identification of a novel actin isoform in hepatocellular carcinoma JOURNAL Hepatol. Res. 36 (1), 33-39 (2006) PUBMED 16824795 REFERENCE 2 (residues 1 to 508) AUTHORS Hahn Y, Bera TK, Pastan IH and Lee B. TITLE Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains JOURNAL Gene 366 (2), 238-245 (2006) PUBMED 16364570 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL929601.4 and AL589182.4. 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## RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000547889.6/ ENSP00000448062.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..508 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="14" /map="14q11.2" Protein 1..508 /product="putative POTE ankyrin domain family member M" /note="prostate-specific P704P; ANKRD26-like family C member ENSP00000349402" /calculated_mol_wt=56937 Region 143..193 /region_name="Ank_4" /note="Ankyrin repeats (many copies); pfam13637" /db_xref="CDD:290365" Region 167..292 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 172..201 /region_name="ANK 1" /note="propagated from UniProtKB/Swiss-Prot (A6NI47.2)" Region 174..203 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 177..269 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 205..236 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 205..234 /region_name="ANK 2" /note="propagated from UniProtKB/Swiss-Prot (A6NI47.2)" Region 233..357 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Site order(238,240,244..245,248..250,252..253,257,260,269,271, 273,277..278,281..283,285..286,290,293,302,304,306, 310..311,314..316,318..319,323,326,335) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 238..269 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 238..267 /region_name="ANK 3" /note="propagated from UniProtKB/Swiss-Prot (A6NI47.2)" Region 243..335 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 271..302 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 271..300 /region_name="ANK 4" /note="propagated from UniProtKB/Swiss-Prot (A6NI47.2)" Region 304..335 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 304..333 /region_name="ANK 5" /note="propagated from UniProtKB/Swiss-Prot (A6NI47.2)" CDS 1..508 /gene="POTEM" /gene_synonym="ACT; P704P; POTE14beta" /coded_by="NM_001145442.1:53..1579" /db_xref="CCDS:CCDS73609.1" /db_xref="GeneID:641455" /db_xref="HGNC:HGNC:37096" ORIGIN 1 mvaeagsmpa assvkkpfgl rskmgkwcrh cfpwcrgsgk snvgtsgdhd dsamktlrsk 61 mgkwcrhcfp wcrgsgksnv gtsgdhddsa mktlrskmgk wcchcfpccr gsgkskvgpw 121 gdyddsafme pryhvrredl dklhraawwg kvprkdlivm lkdtdmnkkd kqkrtalhla 181 sangnsevvk llldrrcqln ildnkkrtal tkavqcqede calmllehgt dpnipdeygn 241 talhyaiyne dklmakalll ygadiesknk hgltplllgv heqkqqvvkf likkkanlna 301 ldrygrtvli lavccgsasi vsllleqnid vssqdlsgqt areyavssrh nvicqllsdy 361 kekqilkvss ensnpeqdlk ltseeesqrl kgsensqpee msqepeinkg gdrkveeemk 421 khgsthmgfp enlpngatad ngddglippr ksrtpesqqf pdteneqyhs deqndtqkql 481 seeqntgilq deiliheekq ievaenef // LOCUS NP_001002761 106 aa linear PRI 01-JUL-2020 DEFINITION testis-specific basic protein Y 2 [Homo sapiens]. ACCESSION NP_001002761 VERSION NP_001002761.1 DBSOURCE REFSEQ: accession NM_001002761.1 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 106) AUTHORS Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, Oates RD, Silber S, van der Veen F, Page DC and Rozen S. TITLE A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region JOURNAL Genomics 83 (6), 1046-1052 (2004) PUBMED 15177557 REFERENCE 2 (residues 1 to 106) AUTHORS Wong EY, Tse JY, Yao KM, Lui VC, Tam PC and Yeung WS. TITLE Identification and characterization of human VCY2-interacting protein: VCY2IP-1, a microtubule-associated protein-like protein JOURNAL Biol. Reprod. 70 (3), 775-784 (2004) PUBMED 14627543 REFERENCE 3 (residues 1 to 106) AUTHORS Tse JY, Wong EY, Cheung AN, O WS, Tam PC and Yeung WS. TITLE Specific expression of VCY2 in human male germ cells and its involvement in the pathogenesis of male infertility JOURNAL Biol. Reprod. 69 (3), 746-751 (2003) PUBMED 12724276 REMARK GeneRIF: VCY2 was weakly expressed at the spermatogonia and immunonegative in spermatocytes and round spermatids in testicular biopsy specimens with maturation arrest or hypospermatogenesis. REFERENCE 4 (residues 1 to 106) 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 5 (residues 1 to 106) AUTHORS Wong EY, Tse JY, Yao KM, Tam PC and Yeung WS. TITLE VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A JOURNAL Biochem. Biophys. Res. Commun. 296 (5), 1104-1111 (2002) PUBMED 12207887 REMARK GeneRIF: VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A REFERENCE 6 (residues 1 to 106) 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 AC016728.4. Summary: This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more telomeric copy within the palindrome. [provided by RefSeq, Jul 2008]. CCDS Note: This CCDS ID represents the protein described in PMIDs: 12724276 and 12207887. 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: 12724276. Three identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more telomeric copy within the palindrome. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000382287.5/ ENSP00000371724.1 NMD candidate :: translation inferred from conservation RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..106 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="Y" /map="Yq11.23" Protein 1..106 /product="testis-specific basic protein Y 2" /note="basic protein on Y chromosome 2; variable charge, Y-linked, 2; basic charge, Y-linked 2; variably charged protein Y 2" /calculated_mol_wt=11932 CDS 1..106 /gene="BPY2C" /gene_synonym="VCY2C" /coded_by="NM_001002761.1:333..653" /db_xref="CCDS:CCDS44030.1" /db_xref="GeneID:442868" /db_xref="HGNC:HGNC:18225" ORIGIN 1 mmtlvprart ragqdhyshp cprfsqvllt egimtycltk nlsdvnilhr llkngnvrnt 61 llqskvgllt yyvklypgev tlltrpsiqm rlccitgsvs rprsqk // LOCUS NP_001001953 311 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 10G9 [Homo sapiens]. ACCESSION NP_001001953 XP_166777 VERSION NP_001001953.1 DBSOURCE REFSEQ: accession NM_001001953.1 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 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 AP001884.4. On Aug 30, 2004 this sequence version replaced XP_166777.1. 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 :: ENST00000375024.1/ ENSP00000364164.1 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 10G9" /note="olfactory receptor OR11-272; olfactory receptor 10G10" /calculated_mol_wt=34443 Site 24..44 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN4.1)" Region 29..301 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 39..287 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 53..73 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN4.1)" Site 99..119 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN4.1)" Site 139..159 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN4.1)" Site 197..216 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN4.1)" Site 237..257 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN4.1)" Site 269..289 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN4.1)" CDS 1..311 /gene="OR10G9" /gene_synonym="OR10G10P" /coded_by="NM_001001953.1:1..936" /db_xref="CCDS:CCDS31703.1" /db_xref="GeneID:219870" /db_xref="HGNC:HGNC:15129" ORIGIN 1 msktslvtaf iltglphapg ldaplfgifl vvyvltvlgn llillvirvd shlhtpmyyf 61 ltnlsfidmw fstvtvpkml mtlvspsgra isfhscvaql yffhflgste cflytvmsyd 121 rylaisyplr ytsmmsgsrc allatstwls gslhsavqti ltfhlpycgp nqiqhylcda 181 ppilklacad tsanemvifv diglvasgcf llivlsyvsi vcsilrihts egrhrafqtc 241 ashcivvlcf fvpcvfiylr pgsrdvvdgv vaifytvltp llnpvvytlr nkevkkavlk 301 lrdkvahsqg e // LOCUS NP_001335001 79 aa linear PRI 01-JUL-2020 DEFINITION protein FAM236B isoform 1 [Homo sapiens]. ACCESSION NP_001335001 VERSION NP_001335001.1 DBSOURCE REFSEQ: accession NM_001348072.1 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. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC240504.3 and AA436071.1. ##Evidence-Data-START## Transcript exon combination :: HY003745.1, AA436071.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000596535.3/ ENSP00000489894.1 RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..79 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq13.1" Protein 1..79 /product="protein FAM236B isoform 1" /note="family with sequence similarity 235 member B; protein FAM236B" /calculated_mol_wt=8584 CDS 1..79 /gene="FAM236B" /coded_by="NM_001348072.1:101..340" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS87760.1" /db_xref="GeneID:100132304" /db_xref="HGNC:HGNC:52640" ORIGIN 1 miftpflppa dlsvfqnvkg lqndpeewva vsdatedpsg gtglprepal lrgswrsrfq 61 ralacftkcf rggyralgi // LOCUS NP_001034450 474 aa linear PRI 01-JUL-2020 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. Bioinformatics 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_066401 189 aa linear PRI 01-JUL-2020 DEFINITION interferon alpha-7 precursor [Homo sapiens]. ACCESSION NP_066401 VERSION NP_066401.2 DBSOURCE REFSEQ: accession NM_021057.2 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 189) 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 2 (residues 1 to 189) 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 189) AUTHORS Myers MP, Andersen JN, Cheng A, Tremblay ML, Horvath CM, Parisien JP, Salmeen A, Barford D and Tonks NK. TITLE TYK2 and JAK2 are substrates of protein-tyrosine phosphatase 1B JOURNAL J. Biol. Chem. 276 (51), 47771-47774 (2001) PUBMED 11694501 REFERENCE 4 (residues 1 to 189) AUTHORS Nyman TA, Tolo H, Parkkinen J and Kalkkinen N. TITLE Identification of nine interferon-alpha subtypes produced by Sendai virus-induced human peripheral blood leucocytes JOURNAL Biochem. J. 329 (Pt 2), 295-302 (1998) PUBMED 9425112 REFERENCE 5 (residues 1 to 189) AUTHORS Hussain M, Gill DS and Liao MJ. TITLE Identification of interferon-alpha 7, -alpha 14, and -alpha 21 variants in the genome of a large human population JOURNAL J. Interferon Cytokine Res. 16 (10), 853-859 (1996) PUBMED 8910771 REFERENCE 6 (residues 1 to 189) 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 189) 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 8 (residues 1 to 189) AUTHORS Henco,K., Brosius,J., Fujisawa,A., Fujisawa,J.I., Haynes,J.R., Hochstadt,J., Kovacic,T., Pasek,M., Schambock,A., Schmid,J. et al. TITLE Structural relationship of human interferon alpha genes and pseudogenes JOURNAL J. Mol. Biol. 185 (2), 227-260 (1985) PUBMED 4057246 REFERENCE 9 (residues 1 to 189) AUTHORS Cohen,S., Velan,B., Grosfeld,H., Shalita,Z., Leitner,M. and Shafferman,A. TITLE Cloning, expression and biological activity of a new variant of human interferon alpha identified in virus induced lymphoblastoid cells JOURNAL Dev. Biol. Stand. 60, 111-122 (1985) PUBMED 2995168 REFERENCE 10 (residues 1 to 189) AUTHORS Ullrich,A., Gray,A., Goeddel,D.V. and Dull,T.J. TITLE Nucleotide sequence of a portion of human chromosome 9 containing a leukocyte interferon gene cluster JOURNAL J. Mol. Biol. 156 (3), 467-486 (1982) PUBMED 6181262 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from M34913.1 and BC074991.2. On Jul 26, 2005 this sequence version replaced NP_066401.1. Publication Note: This RefSeq record includes 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 :: M34913.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000239347.3/ ENSP00000239347.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..189 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9p21.3" Protein 1..189 /product="interferon alpha-7 precursor" /note="IFN-alpha 7; leIF J; IFN-alpha-J1; interferon alpha-J; interferon alpha-J1" /calculated_mol_wt=19607 sig_peptide 1..23 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2518 Region 26..181 /region_name="Interferon" /note="Interferon alpha/beta domain; pfam00143" /db_xref="CDD:306620" Site order(28..29,32,35..36,39,42..43,100..101,103..104, 106..107,110,113..114,117..118,121) /site_type="other" /note="putative IFNAR-1 binding site" /db_xref="CDD:238047" Site order(53..60,62..64,70..71,141..142,144..145,148..149, 151..152,155..160) /site_type="other" /note="putative IFNAR-2 binding site" /db_xref="CDD:238047" Site 101 /site_type="other" /note="N-glycosylation site [posttranslational modification]" /db_xref="CDD:238047" CDS 1..189 /gene="IFNA7" /gene_synonym="IFN-alphaJ; IFNA-J" /coded_by="NM_021057.2:41..610" /db_xref="CCDS:CCDS34995.1" /db_xref="GeneID:3444" /db_xref="HGNC:HGNC:5428" /db_xref="MIM:147567" ORIGIN 1 marsfsllmv vlvlsyksic slgcdlpqth slrnrralil laqmgrispf sclkdrhefr 61 fpeeefdghq fqktqaisvl hemiqqtfnl fstedssaaw eqsllekfst elyqqlndle 121 acviqevgve etplmnedfi lavrkyfqri tlylmekkys pcawevvrae imrsfsfstn 181 lkkglrrkd // LOCUS NP_001011717 153 aa linear PRI 01-JUL-2020 DEFINITION neuromedin-S preproprotein [Homo sapiens]. ACCESSION NP_001011717 XP_065278 VERSION NP_001011717.1 DBSOURCE REFSEQ: accession NM_001011717.1 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 153) AUTHORS Mori K, Ida T, Fudetani M, Mori M, Kaiya H, Hino J, Nakahara K, Murakami N, Miyazato M and Kangawa K. TITLE Identification of neuromedin U precursor-related peptide and its possible role in the regulation of prolactin release JOURNAL Sci Rep 7 (1), 10468 (2017) PUBMED 28874765 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 153) AUTHORS Lee IT, Chang AS, Manandhar M, Shan Y, Fan J, Izumo M, Ikeda Y, Motoike T, Dixon S, Seinfeld JE, Takahashi JS and Yanagisawa M. TITLE Neuromedin s-producing neurons act as essential pacemakers in the suprachiasmatic nucleus to couple clock neurons and dictate circadian rhythms JOURNAL Neuron 85 (5), 1086-1102 (2015) PUBMED 25741729 REMARK GeneRIF: Neuromedin s neurons define a subpopulation of pacemakers that control suprachiasmatic nucleus network synchrony. REFERENCE 3 (residues 1 to 153) 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 4 (residues 1 to 153) AUTHORS Pinheiro AP, Bulik CM, Thornton LM, Sullivan PF, Root TL, Bloss CS, Berrettini WH, Schork NJ, Kaye WH, Bergen AW, Magistretti P, Brandt H, Crawford S, Crow S, Fichter MM, Goldman D, Halmi KA, Johnson C, Kaplan AS, Keel PK, Klump KL, La Via M, Mitchell JE, Strober M, Rotondo A, Treasure J and Woodside DB. TITLE Association study of 182 candidate genes in anorexia nervosa JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (5), 1070-1080 (2010) PUBMED 20468064 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (residues 1 to 153) AUTHORS Mitchell JD, Maguire JJ and Davenport AP. TITLE Emerging pharmacology and physiology of neuromedin U and the structurally related peptide neuromedin S JOURNAL Br. J. Pharmacol. 158 (1), 87-103 (2009) PUBMED 19519756 REMARK GeneRIF: In man, NMS elicits vasoconstriction in isolated saphenous vein with comparable potency with NMU, but significantly reduces maximum contractile response. Review article REFERENCE 6 (residues 1 to 153) AUTHORS Mitchell JD, Maguire JJ, Kuc RE and Davenport AP. TITLE Expression and vasoconstrictor function of anorexigenic peptides neuromedin U-25 and S in the human cardiovascular system JOURNAL Cardiovasc. Res. 81 (2), 353-361 (2009) PUBMED 18987052 REMARK GeneRIF: both NMU receptor and peptide are expressed in human cardiovascular tissues and have shown that NMU-25 and NMS act as potent vasoconstrictors in human vascular beds REFERENCE 7 (residues 1 to 153) AUTHORS Miyazato M, Mori K, Ida T, Kojima M, Murakami N and Kangawa K. TITLE Identification and functional analysis of a novel ligand for G protein-coupled receptor, Neuromedin S JOURNAL Regul. Pept. 145 (1-3), 37-41 (2008) PUBMED 17870195 REMARK GeneRIF: NMS is implicated in the regulation of circadian rhythm and feeding behavior REFERENCE 8 (residues 1 to 153) 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 9 (residues 1 to 153) AUTHORS Mori K, Miyazato M, Ida T, Murakami N, Serino R, Ueta Y, Kojima M and Kangawa K. TITLE Identification of neuromedin S and its possible role in the mammalian circadian oscillator system JOURNAL EMBO J. 24 (2), 325-335 (2005) PUBMED 15635449 REFERENCE 10 (residues 1 to 153) AUTHORS Raddatz R, Wilson AE, Artymyshyn R, Bonini JA, Borowsky B, Boteju LW, Zhou S, Kouranova EV, Nagorny R, Guevarra MS, Dai M, Lerman GS, Vaysse PJ, Branchek TA, Gerald C, Forray C and Adham N. TITLE Identification and characterization of two neuromedin U receptors differentially expressed in peripheral tissues and the central nervous system JOURNAL J. Biol. Chem. 275 (42), 32452-32459 (2000) PUBMED 10899166 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AB164464.1. On Feb 9, 2005 this sequence version replaced XP_065278.3. Summary: This gene encodes a member of the neuromedin family of neuropeptides. The encoded preproprotein is proteolytically processed to generate a biologically active neuropeptide that plays a role in the regulation of circadian rhythm, anorexigenic action, antidiuretic action, cardiovascular function and stimulation of oxytocin and vasopressin release. [provided by RefSeq, May 2016]. ##Evidence-Data-START## Transcript exon combination :: AB164464.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000376865.1/ ENSP00000366061.1 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="2" /map="2q11.2" Protein 1..153 /product="neuromedin-S preproprotein" /note="prepro-NMS; neuromedin S precursor-related peptide/neuromedin S preproprotein" /calculated_mol_wt=14741 sig_peptide 1..26 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3008 mat_peptide 109..141 /product="Neuromedin-S. /id=PRO_0000262483" /note="propagated from UniProtKB/Swiss-Prot (Q5H8A3.1)" /calculated_mol_wt=3792 Site 141 /site_type="amidation" /note="Asparagine amide. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q5H8A3.1)" CDS 1..153 /gene="NMS" /coded_by="NM_001011717.1:8..469" /db_xref="CCDS:CCDS33259.1" /db_xref="GeneID:129521" /db_xref="HGNC:HGNC:32203" ORIGIN 1 mkhlrpqfpl ilaiycfcml qipssgfpqp ladpsdgldi vqleqlaycl sqwaplsrqp 61 kdnqdiykrf lfhysrtqea thpvktgfpp vhplmhlaak lanrrmkril qrgsgtaavd 121 ftkkdhtatw grpfflfrpr ngrniedeaq iqw // LOCUS NP_149419 310 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 51B4 [Homo sapiens]. ACCESSION NP_149419 VERSION NP_149419.2 DBSOURCE REFSEQ: accession NM_033179.2 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 310) AUTHORS Bulger M, Bender MA, van Doorninck JH, Wertman B, Farrell CM, Felsenfeld G, Groudine M and Hardison R. TITLE Comparative structural and functional analysis of the olfactory receptor genes flanking the human and mouse beta-globin gene clusters JOURNAL Proc. Natl. Acad. Sci. U.S.A. 97 (26), 14560-14565 (2000) PUBMED 11121057 REFERENCE 2 (residues 1 to 310) AUTHORS Bulger M, van Doorninck JH, Saitoh N, Telling A, Farrell C, Bender MA, Felsenfeld G, Axel R and Groudine M. TITLE Conservation of sequence and structure flanking the mouse and human beta-globin loci: the beta-globin genes are embedded within an array of odorant receptor genes JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (9), 5129-5134 (1999) PUBMED 10220430 REMARK Erratum:[Proc Natl Acad Sci U S A 1999 Jul 6;96(14):8307. von Doorninck JH [corrected to van Doorninck JH]] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC153815.1. On Oct 10, 2007 this sequence version replaced NP_149419.1. 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 :: BC069094.1, BC100919.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000380224.2/ ENSP00000369573.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..310 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11p15.4" Protein 1..310 /product="olfactory receptor 51B4" /note="odorant receptor HOR5'beta1" /calculated_mol_wt=34782 Site 4 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9Y5P0.3)" Site 24..44 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y5P0.3)" Region 29..305 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 39..289 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 53..73 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y5P0.3)" Site 98..117 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y5P0.3)" Site 137..157 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y5P0.3)" Site 194..214 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y5P0.3)" Site 235..255 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y5P0.3)" Site 271..291 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y5P0.3)" CDS 1..310 /gene="OR51B4" /gene_synonym="HOR5'Beta1" /coded_by="NM_033179.2:1..933" /db_xref="CCDS:CCDS7757.1" /db_xref="GeneID:79339" /db_xref="HGNC:HGNC:14708" ORIGIN 1 mwynnsagpf lltgflgsea vhyrismsff viyfsvlfgn gtllvliwnd hslhepmyyf 61 lamladtdlg mtfttmptvl gvllldqrei ahaacftqsf ihslaivesg illvlaydcf 121 iairtplryn ciltnsrvmn iglgvlmrgf msilpiilsl ycypycgsra llhtfclhqd 181 viklacadit fnhiypiiqt sltvfldali iifsyililk tvmgiasgqe eakslntcvs 241 hiscvlvfhi tvmglsfihr fgkhaphvvp itmsyvhflf ppfvnpiiys iktkqiqrsi 301 irlfsgqsra // LOCUS NP_001122070 102 aa linear PRI 01-JUL-2020 DEFINITION keratin-associated protein 25-1 [Homo sapiens]. ACCESSION NP_001122070 XP_001720240 XP_001724792 XP_001725467 VERSION NP_001122070.1 DBSOURCE REFSEQ: accession NM_001128598.1 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 102) AUTHORS Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishii K, Totoki Y, Choi DK, Groner Y, Soeda E, Ohki M, Takagi T, Sakaki Y, Taudien S, Blechschmidt K, Polley A, Menzel U, Delabar J, Kumpf K, Lehmann R, Patterson D, Reichwald K, Rump A, Schillhabel M, Schudy A, Zimmermann W, Rosenthal A, Kudoh J, Schibuya K, Kawasaki K, Asakawa S, Shintani A, Sasaki T, Nagamine K, Mitsuyama S, Antonarakis SE, Minoshima S, Shimizu N, Nordsiek G, Hornischer K, Brant P, Scharfe M, Schon O, Desario A, Reichelt J, Kauer G, Blocker H, Ramser J, Beck A, Klages S, Hennig S, Riesselmann L, Dagand E, Haaf T, Wehrmeyer S, Borzym K, Gardiner K, Nizetic D, Francis F, Lehrach H, Reinhardt R and Yaspo ML. CONSRTM Chromosome 21 mapping and sequencing consortium TITLE The DNA sequence of human chromosome 21 JOURNAL Nature 405 (6784), 311-319 (2000) PUBMED 10830953 REMARK Erratum:[Nature 2000 Sep 7;407(6800):110] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB180043.1. On or before Jun 20, 2008 this sequence version replaced XP_001720240.1, XP_001724792.1, XP_001725467.1. ##Evidence-Data-START## Transcript is intronless :: AB180043.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000416044.1/ ENSP00000398619.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..102 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21q22.11" Protein 1..102 /product="keratin-associated protein 25-1" /calculated_mol_wt=11607 Region <33..102 /region_name="PMG" /note="PMG protein; pfam05287" /db_xref="CDD:283053" CDS 1..102 /gene="KRTAP25-1" /gene_synonym="KAP25.1" /coded_by="NM_001128598.1:25..333" /db_xref="CCDS:CCDS46640.1" /db_xref="GeneID:100131902" /db_xref="HGNC:HGNC:34003" ORIGIN 1 mhnrsqgfff sschpqnhvs ygcqspsfif crcqslnfvs rtcyplsyfs ygnqtigsis 61 nsfrslnyvs hsfqpisfmh ssfqpacsdf vgwqspflrr tc // LOCUS NP_001004748 313 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 51A2 [Homo sapiens]. ACCESSION NP_001004748 XP_377159 VERSION NP_001004748.1 DBSOURCE REFSEQ: accession NM_001004748.1 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 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 PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AC018375.8. On Sep 19, 2004 this sequence version replaced XP_377159.1. 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 :: ENST00000380371.1/ ENSP00000369729.1 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 51A2" /calculated_mol_wt=34947 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGJ7.1)" Site 28..48 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ7.1)" Region 34..310 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Site 57..77 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ7.1)" Site 102..122 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ7.1)" Site 142..162 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ7.1)" Site 199..218 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ7.1)" Site 239..259 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ7.1)" Site 275..295 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGJ7.1)" CDS 1..313 /gene="OR51A2" /coded_by="NM_001004748.1:1..942" /db_xref="CCDS:CCDS31368.1" /db_xref="GeneID:401667" /db_xref="HGNC:HGNC:14764" ORIGIN 1 msiintsyve ittfflvgmp gleyahiwis ipicsmylia ilgngtilfi iktepslhgp 61 myyflsmlam sdlglslssl ptvlsiflfn apetsssacf aqeffihgfs vlessvllim 121 sfdrflaihn plrytsiltt vrvaqigivf sfksmllvlp fpftlrslry ckknqlshsy 181 clhqdvmkla csdnridviy gffgalclmv dfiliavsyt lilktvpgia skkeelkaln 241 tcvshicavi ifylpiinla vvhrfaghvs plinvlmanv lllvpplmkp ivycvktkqi 301 rvrvvaklcq wki // LOCUS NP_001001968 331 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 6S1 [Homo sapiens]. ACCESSION NP_001001968 XP_292227 VERSION NP_001001968.1 DBSOURCE REFSEQ: accession NM_001001968.1 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 331) 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 BK004263.1. On Aug 30, 2004 this sequence version replaced XP_292227.3. 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 :: ENST00000320704.3/ ENSP00000313110.3 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="14" /map="14q11.2" Protein 1..331 /product="olfactory receptor 6S1" /note="olfactory receptor OR14-37" /calculated_mol_wt=35996 Site 6 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NH40.2)" Site 30..50 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH40.2)" Region 33..308 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 43..293 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 60..80 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH40.2)" Site 100..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH40.2)" Site 148..168 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH40.2)" Site 208..228 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH40.2)" Site 243..263 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH40.2)" Site 275..295 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH40.2)" CDS 1..331 /gene="OR6S1" /gene_synonym="OR14-37; OR6S1Q" /coded_by="NM_001001968.1:1..996" /db_xref="CCDS:CCDS32038.1" /db_xref="GeneID:341799" /db_xref="HGNC:HGNC:15363" ORIGIN 1 mspdgnhssd ptefvlaglp nlnsarvelf svfllvylln ltgnvlivgv vradtrlqtp 61 myfflgnlsc leilltsvii pkmlsnflsr qhtisfaaci tqfyfyfflg aseflllavm 121 sadrylaich plrypllmsg avcfrvalac wvgglvpvlg ptvavallpf ckqgavvqhf 181 fcdsgpllrl actntkklee tdfvlaslvi vssllitavs yglivlavls ipsasgrqka 241 fstctshliv vtlfygsaif lyvrpsqsgs vdtnwavtvi ttfvtpllnp fiyalrneqv 301 kealkdmfrk vvagvlgnll ldkclsekav k // LOCUS NP_001278469 189 aa linear PRI 01-JUL-2020 DEFINITION cancer/testis antigen family 45 member A9 [Homo sapiens]. ACCESSION NP_001278469 XP_006724858 XP_006726915 VERSION NP_001278469.1 DBSOURCE REFSEQ: accession NM_001291540.2 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC240441.2. On or before Apr 19, 2014 this sequence version replaced XP_006724858.1, XP_006726915.1. 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 SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000620704.5/ ENSP00000483637.1 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="X" /map="Xq26.3" Protein 1..189 /product="cancer/testis antigen family 45 member A9" /note="cancer/testis antigen 45A9; Cancer/testis antigen family 45 member A8; Cancer/testis antigen 45A8; Cancer/testis antigen family 45 member A2; Cancer/testis antigen 45-2; Cancer/testis antigen 45A2" /calculated_mol_wt=21232 Region 122..183 /region_name="INT_SG_DDX_CT_C" /note="INTS6/SAGE1/DDX26B/CT45 C-terminus; pfam15300" /db_xref="CDD:291946" CDS 1..189 /gene="CT45A9" /gene_synonym="CT45-2; CT45A2; CT45A8" /coded_by="NM_001291540.2:246..815" /db_xref="CCDS:CCDS76034.1" /db_xref="GeneID:102723680" /db_xref="HGNC:HGNC:51262" ORIGIN 1 mtdktekvav dpetvfkrpr ecdspsyqkr qrmallarkq gagdsliags amskekklmt 61 ghaippsqld sqiddftgfs kdrmmqkpgs napvggnvts sfsgddlecr etafspksqq 121 einadikrql vkelrcvgqk yekifemleg vqgptavrkr ffesiikeaa rcmrrdfvkh 181 lkkklkrmi // LOCUS NP_001137440 179 aa linear PRI 01-JUL-2020 DEFINITION putative ADP-ribosylation factor-like protein 5C [Homo sapiens]. ACCESSION NP_001137440 XP_001720204 XP_001722939 XP_001725661 VERSION NP_001137440.1 DBSOURCE REFSEQ: accession NM_001143968.1 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 179) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC004408.2. On or before Jan 24, 2009 this sequence version replaced XP_001725661.1, XP_001720204.1, XP_001722939.1. 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 :: ENST00000269586.12/ ENSP00000269586.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..179 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q12" Protein 1..179 /product="putative ADP-ribosylation factor-like protein 5C" /note="ADP-ribosylation factor-like protein 12; ADP-ribosylation factor-like 5C" /calculated_mol_wt=20460 Region 3..175 /region_name="P-loop_NTPase" /note="P-loop containing Nucleoside Triphosphate Hydrolases; cl21455" /db_xref="CDD:304359" Site 23..30 /site_type="other" /note="G1 box" /db_xref="CDD:206648" Site order(25..31,69,125..126,128,158..160) /site_type="other" /note="GTP/Mg2+ binding site [chemical binding]" /db_xref="CDD:206648" Site 47 /site_type="other" /note="G2 box" /db_xref="CDD:206648" Site 51..53 /site_type="other" /note="Switch I region" /db_xref="CDD:206648" Site 66..69 /site_type="other" /note="G3 box" /db_xref="CDD:206648" Site order(68..69,85..86) /site_type="other" /note="Switch II region" /db_xref="CDD:206648" Site 125..128 /site_type="other" /note="G4 box" /db_xref="CDD:206648" Site 158..160 /site_type="other" /note="G5 box" /db_xref="CDD:206648" CDS 1..179 /gene="ARL5C" /gene_synonym="ARL12" /coded_by="NM_001143968.1:402..941" /db_xref="CCDS:CCDS45664.1" /db_xref="GeneID:390790" /db_xref="HGNC:HGNC:31111" ORIGIN 1 mgqliaklms ifgnqehtvi ivgldnegkt tilyrfltne vvhmcptigs nveeiilpkt 61 hffmwdivrp ealsfiwnty ysntefiilv idstdrdrll ttreelykml ahealqdasv 121 lifankqdvk dsmrmveish fltlstikdh swhiqgccal treglparlq wmesqaaan // LOCUS NP_001193560 450 aa linear PRI 01-JUL-2020 DEFINITION tripartite motif-containing protein 64C [Homo sapiens]. ACCESSION NP_001193560 XP_934797 VERSION NP_001193560.1 DBSOURCE REFSEQ: accession NM_001206631.1 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 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC084851.2. On Apr 29, 2011 this sequence version replaced XP_934797.3. 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. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000617704.1/ ENSP00000481815.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..450 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11p11.12" Protein 1..450 /product="tripartite motif-containing protein 64C" /note="putative tripartite motif-containing protein 64C" /calculated_mol_wt=51409 Region 12..57 /region_name="RING-HC_TRIM43_like_C-IV" /note="RING finger, HC subclass, found in tripartite motif-containing proteins TRIM43, TRIM48, TRIM49, TRIM51, TRIM64, TRIM77 and similar proteins; cd16603" /db_xref="CDD:319517" Region 15..55 /region_name="RING-HC finger (C3HC4-type)" /note="RING-HC finger (C3HC4-type) [structural motif]" /db_xref="CDD:319517" Site order(15,18,30,32,35,38,52,55) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:319517" Region 91..128 /region_name="BBOX" /note="B-Box-type zinc finger; zinc binding domain (CHC3H2); often present in combination with other motifs, like RING zinc finger, NHL motif, coiled-coil or RFP domain in functionally unrelated proteins, most likely mediating protein-protein interaction; cd00021" /db_xref="CDD:237988" Site order(92,95,114,120) /site_type="other" /note="Zn2+ binding site [ion binding]" /db_xref="CDD:237988" Region 142..257 /region_name="Cor1" /note="Cor1/Xlr/Xmr conserved region; pfam04803" /db_xref="CDD:309788" Region 285..446 /region_name="SPRY" /note="SPRY domain; cl02614" /db_xref="CDD:322017" CDS 1..450 /gene="TRIM64C" /coded_by="NM_001206631.1:1..1353" /db_xref="CCDS:CCDS73287.1" /db_xref="GeneID:646754" /db_xref="HGNC:HGNC:37148" ORIGIN 1 mdsdtlrvfq neliccicvn yfidpvttdc vhsfcrpclc lcseegrapm rcplcrkise 61 kpnfntnval kklaslarqt rpqninssdn icvlheetke lfceadkrll cgpcsespeh 121 mahshspigw aaeecrvqkl ikemdylwki nqetqnnlnq etskfcslvd yvslrkviit 181 iqyqkmhifl deeeqrhlqa lereakelfq qlqdsqvrmt qhlegmkdmy relwetyhmp 241 dvellqdvgn isartdlaqm pkpqpvnpel tswcitgvld mlnnfrvdna lstemtpcyi 301 slsedvrrvi fgddhrsapm dpqgvesfav wcaqaftsgk hywevdvths snwilgvcrd 361 srtadtnivi dsdktffsis sktsnhysls tnsppliqyv qrplgwvgvf ldydngsvsf 421 fdvskgsliy gfppssfssp lrpffcfgct // LOCUS NP_001157906 45 aa linear PRI 01-JUL-2020 DEFINITION keratin-associated protein 22-2 [Homo sapiens]. ACCESSION NP_001157906 XP_002343781 VERSION NP_001157906.1 DBSOURCE REFSEQ: accession NM_001164434.1 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. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB096950.1. On Aug 26, 2009 this sequence version replaced XP_002343781.1. ##Evidence-Data-START## Transcript is intronless :: AB096950.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000382830.2/ ENSP00000372281.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..45 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21q22.11" Protein 1..45 /product="keratin-associated protein 22-2" /calculated_mol_wt=5087 CDS 1..45 /gene="KRTAP22-2" /gene_synonym="KAP22.2" /coded_by="NM_001164434.1:24..161" /db_xref="CCDS:CCDS46641.1" /db_xref="GeneID:100288287" /db_xref="HGNC:HGNC:37091" ORIGIN 1 mcyyhnyygs ldygcsygse ygnsgyacnf pcsygrflla prkkf // LOCUS NP_001123877 221 aa linear PRI 01-JUL-2020 DEFINITION proline-rich protein 20C [Homo sapiens]. ACCESSION NP_001123877 XP_001132957 VERSION NP_001123877.1 DBSOURCE REFSEQ: accession NM_001130405.1 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 221) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL353652.17. On Jul 23, 2008 this sequence version replaced XP_001132957.1. SUMMARY: This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [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. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000544357.2/ ENSP00000438757.1 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="13" /map="13q21.1" Protein 1..221 /product="proline-rich protein 20C" /note="FLJ40296 protein family member; Proline-rich protein 20E; Proline-rich protein 20D; Proline-rich protein 20B; Proline-rich protein 20A" /calculated_mol_wt=23131 Region 1..221 /region_name="PRR20" /note="Proline-rich protein family 20; pfam15708" /db_xref="CDD:318009" CDS 1..221 /gene="PRR20C" /gene_synonym="PRR20; PRR20A; PRR20B; PRR20D; PRR20E" /coded_by="NM_001130405.1:234..899" /db_xref="CCDS:CCDS45054.1" /db_xref="GeneID:729240" /db_xref="HGNC:HGNC:37221" ORIGIN 1 meeprpskrl rsmapnqasg gpppepgccv adpegsvead gpaqpaqpak piayvkpfrr 61 qpparpespp paergrrrgg srrpgrgrgr ragprgdagq rqgaeglmap dvhiqldhhg 121 epghqgepei tetaafslse tgpppgtvqe gpgpdvaqpe lgfqeppaap gpqavdwqpv 181 ltlypcigfr algdsavlqv iqtpqgtyvq gvpvfltdia y // LOCUS NP_001345367 1052 aa linear PRI 01-JUL-2020 DEFINITION Kruppel-like factor 18 [Homo sapiens]. ACCESSION NP_001345367 VERSION NP_001345367.1 DBSOURCE REFSEQ: accession NM_001358438.1 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 1052) AUTHORS Pei J and Grishin NV. TITLE A new family of predicted Kruppel-like factor genes and pseudogenes in placental mammals JOURNAL PLoS ONE 8 (11), e81109 (2013) PUBMED 24244731 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 AL359839.4. 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## RNAseq introns :: single sample supports all introns SAMEA2148093, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000634670.1/ ENSP00000489024.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1052 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p34.1" Protein 1..1052 /product="Kruppel-like factor 18" /note="KLF pseudogene" /calculated_mol_wt=112471 Region 969..988 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(973,975,977,979..980,983..984,987,1003,1005, 1009..1010,1013..1014,1017,1031,1033,1035,1037..1038, 1041..1042,1045) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 980..1007 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:316026" Region 996..1018 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(996,1001,1014,1018) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 1010..1035 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:316026" Region 1026..1046 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1026,1029,1042,1046) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..1052 /gene="KLF18" /coded_by="NM_001358438.1:1..3159" /db_xref="CCDS:CCDS85967.1" /db_xref="GeneID:105378952" /db_xref="HGNC:HGNC:51793" ORIGIN 1 mdssllqaie eiekffqhls erhteqaetp dapepqncmp ltahaeesqh estqsktmpp 61 lgstmmtsac tnipgtvltq dltmhplkal edlsetysmg qkvtsfdqvk htagsqmtdv 121 tvtpkssptd cqkttitasn mtisnessql ntpssdqtln esqipallgd qmktlsdnqt 181 lcgdqvtfss dqtltdghtv tsgsdetlsg gqmttsldly ggqmmtsidn qtlcgeqmtt 241 ssgnqafygr qmttstgnqt lcgeqmttst gnqalyggqm ttsasnqtlc geqmttstsn 301 qtlcgeqvmt stgnqalcgg qmttstgnqn lyggqmmtst gnqtlywgqm mtstgnqnlc 361 geqvmtstgn qalcggqmtt stgnqnlygg qmmtstgnqt lywgqmmtst gnqnlcgeqv 421 mtstgnqalc ggqmttstgn qnlcgeqvmt stsnqtlcge qtttstsnqt lcgeqvttst 481 gnqalyggqm mtstgnqtly wgqmmtstgn qnlcgeqmtt stgnqalygg qmttstsnqt 541 lcgeqmttpt snqtlcgeqv ttstgnqaly ggqittstsn qtlcgeqmtt stsnqtlcge 601 qvttstgnqa lyggqmmtst gnqalyggqm ttsasnqtlc geqmttstsn qtlceeqvmt 661 stgnqalcge qmttstgnqa lyggqmttst snqtlcgeqt ttstsnqtlc geqvttstgn 721 qalyggqmmt stgnqtlywg qmmtstgnqn lcgeqmttst gnqalyggqm ttstsnqtlc 781 geqmttptsn qtlcgeqvtt stgnqalyrg qittstsnqt lcgeqmttst snqtlcgeqv 841 ttstgnqaly ggqmmtstgn qnlyggqnmt stdnqalygg qmatysgnqt lygdqmltlq 901 vgnmttltdd hslyggymms hqfsslpypg flcfssshli qgqlpkqktq scqfwknpev 961 srpyvctyed ckmsyskach lrthmrkhtg ekpyvcdveg ctwkfarsde lnrhkkrhtg 1021 erpylcsics knfarsdhlk qhakvhnirp gl // LOCUS NP_001243801 530 aa linear PRI 01-JUL-2020 DEFINITION inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8 [Homo sapiens]. ACCESSION NP_001243801 VERSION NP_001243801.1 DBSOURCE REFSEQ: accession NM_001256872.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC130365.5. 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. 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## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000527080.1/ ENSP00000485306.1 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="inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 8" /EC_number="3.4.19.12" /note="ubiquitin specific peptidase 17-like 8" /calculated_mol_wt=59504 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region 375..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L8" /gene_synonym="USP17L10" /coded_by="NM_001256872.1:1..1593" /db_xref="CCDS:CCDS78300.1" /db_xref="GeneID:392188" /db_xref="HGNC:HGNC:37181" ORIGIN 1 meddslylgg ewqfnhfskl tsprpdaafa eiqrtslpek splssetrvd lcddlapvar 61 qlapreklpl ssrrpaavga glqnmgntcy lnaslqclty tpplanymls rehsqtcqrp 121 kccmlctmqa hitwalhspg hviqpsqala agfhrgkqed aheflmftvd amkkaclpgh 181 kqvdhhskdt tlihqifggc wrsqikclhc hgisdtfdpy ldialdiqaa qsvkqaleql 241 vkpeelngen aypcglclqr apasntltlh tsakvlilvl krfcdvtgnk laknvqypec 301 ldmqpymsqq ntgplvyvly avlvhagwsc hngyyfsyvk aqegqwykmd daevtacsit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rpatqgelkr dhpclqvpel 421 dehlverate estldhwkfp qeqnkmkpef nvrkvegtlp pnvlvihqsk ykcgmknhhp 481 eqqssllnls smnstdqesm ntgtlaslqg rtrrskgknk hskrsllvcq // LOCUS NP_001157907 58 aa linear PRI 01-JUL-2020 DEFINITION keratin-associated protein 21-3 [Homo sapiens]. ACCESSION NP_001157907 XP_002343782 VERSION NP_001157907.1 DBSOURCE REFSEQ: accession NM_001164435.1 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. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB180042.1. On Aug 26, 2009 this sequence version replaced XP_002343782.1. ##Evidence-Data-START## Transcript is intronless :: AB180042.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000444335.1/ ENSP00000404517.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..58 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21q22.11" Protein 1..58 /product="keratin-associated protein 21-3" /calculated_mol_wt=6325 Region <2..41 /region_name="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 PFK family that includes ATP- and pyrophosphate (PPi)- dependent phosphofructokinases; cl00204" /db_xref="CDD:294137" CDS 1..58 /gene="KRTAP21-3" /coded_by="NM_001164435.1:19..195" /db_xref="CCDS:CCDS54481.1" /db_xref="GeneID:100288323" /db_xref="HGNC:HGNC:34216" ORIGIN 1 myfnyksvcg scgfgscygc gygcihsthc gcngyygcye nkysviddli ffaskkch // LOCUS NP_149046 357 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 2B2 [Homo sapiens]. ACCESSION NP_149046 VERSION NP_149046.2 DBSOURCE REFSEQ: accession NM_033057.2 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 357) 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 357) 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 BC136901.1. On Feb 24, 2010 this sequence version replaced NP_149046.1. 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 :: BC136881.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000303324.4/ ENSP00000304419.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..357 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p22.1" Protein 1..357 /product="olfactory receptor 2B2" /note="olfactory receptor, family 2, subfamily B, member 9; olfactory receptor OR6-2; olfactory receptor 2B9; olfactory receptor 6-1" /calculated_mol_wt=40281 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9GZK3.1)" Region 25..301 /region_name="7tmA_OR2B2-like" /note="olfactory receptor subfamily 2B2 and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors; cd15432" /db_xref="CDD:320549" Region 26..52 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:320549" Site 26..49 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9GZK3.1)" Site 58..79 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9GZK3.1)" Region 59..85 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320549" 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:320549" Region 97..127 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320549" Site 101..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9GZK3.1)" Region 140..161 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320549" Site 140..158 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9GZK3.1)" Region 195..225 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320549" Site 196..219 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9GZK3.1)" Region 232..262 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320549" Site 237..259 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9GZK3.1)" Region 269..294 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320549" Site 273..292 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9GZK3.1)" CDS 1..357 /gene="OR2B2" /gene_synonym="dJ193B12.4; hs6M1-10; OR2B2Q; OR2B9; OR6-1" /coded_by="NM_033057.2:78..1151" /db_xref="CCDS:CCDS4641.1" /db_xref="GeneID:81697" /db_xref="HGNC:HGNC:13966" ORIGIN 1 mnwvnksvpq efillvfsdq pwleippfvm flfsyiltif gnltiilvsh vdfklhtpmy 61 fflsnlslld lcyttstvpq mlvnicntrk visyggcvaq lfiflalgst eclllavmcf 121 drfvaicrpl hysiimhqrl cfqlaaaswi sgfsnsvlqs twtlkmplcg hkevdhffce 181 vpallklscv dttaneaelf fisvlfllip vtlilisyaf ivqavlriqs aegqrkafgt 241 cgshlivvsl fygtaismyl qppspsskdr gkmvslfcgi iapmlnpliy tlrnkevkea 301 fkrlvaksll nqeirnmqmi sfakdtvlty ltnfsascpi fvitienycn lpqrkfp // LOCUS NP_001092689 63 aa linear PRI 01-JUL-2020 DEFINITION keratin-associated protein 19-8 [Homo sapiens]. ACCESSION NP_001092689 XP_001127697 VERSION NP_001092689.1 DBSOURCE REFSEQ: accession NM_001099219.1 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 63) AUTHORS Wu DD, Irwin DM and Zhang YP. TITLE Molecular evolution of the keratin associated protein gene family in mammals, role in the evolution of mammalian hair JOURNAL BMC Evol. Biol. 8, 241 (2008) PUBMED 18721477 REMARK Erratum:[BMC Evol Biol. 2009;9:213] Publication Status: Online-Only COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB096964.1. On Jun 29, 2007 this sequence version replaced XP_001127697.1. ##Evidence-Data-START## Transcript is intronless :: AB096964.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000382822.2/ ENSP00000372272.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..63 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21q22.11" Protein 1..63 /product="keratin-associated protein 19-8" /calculated_mol_wt=6786 CDS 1..63 /gene="KRTAP19-8" /coded_by="NM_001099219.1:34..225" /db_xref="CCDS:CCDS42917.1" /db_xref="GeneID:728299" /db_xref="HGNC:HGNC:33898" ORIGIN 1 msyyrsyygg lgygyggfgg wgygygcgyg sfrrlgygcg yggygfsccr plyyggygfs 61 afy // LOCUS NP_001137381 228 aa linear PRI 01-JUL-2020 DEFINITION ribulose-phosphate 3-epimerase-like protein 1 [Homo sapiens]. ACCESSION NP_001137381 XP_001133007 XP_001723163 XP_001725649 VERSION NP_001137381.1 DBSOURCE REFSEQ: accession NM_001143909.1 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 228) 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 2 (residues 1 to 228) 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 AL360001.33. On or before Jan 22, 2009 this sequence version replaced XP_001133007.1, XP_001723163.1, XP_001725649.1. 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 :: BC157875.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000441178.2/ ENSP00000476672.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..228 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10q24.33" Protein 1..228 /product="ribulose-phosphate 3-epimerase-like protein 1" /EC_number="5.1.3.1" /note="hCG2024410; ribulose-5-phosphate-3-epimerase-like protein 1; rcRPE protein" /calculated_mol_wt=24892 Region 6..214 /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..149,175,177,197..198) /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" Region 146..149 /region_name="Substrate binding. /evidence=ECO:0000250|UniProtKB:P32719" /note="propagated from UniProtKB/Swiss-Prot (Q2QD12.1)" Region 175..177 /region_name="Substrate binding. /evidence=ECO:0000250|UniProtKB:P32719" /note="propagated from UniProtKB/Swiss-Prot (Q2QD12.1)" Region 197..198 /region_name="Substrate binding. /evidence=ECO:0000250|UniProtKB:P32719" /note="propagated from UniProtKB/Swiss-Prot (Q2QD12.1)" CDS 1..228 /gene="RPEL1" /coded_by="NM_001143909.1:111..797" /db_xref="CCDS:CCDS65929.1" /db_xref="GeneID:729020" /db_xref="HGNC:HGNC:45241" ORIGIN 1 masgckigps ilnsdlanlg akclqmldsg adylhldvmd ghfvpnitfg hpvveslrkq 61 lgqdpffdmh mmvskpeqwv kpmavaeanq ytfhleaten pgtlikdire ngmkvglaik 121 pgtsveylap wanqidmalv mtvepgfgeq kfmedmmpkv hwlrtqfpsl diegdggvgs 181 dtvhkcaeag anmtvsgsai mrsedprsvi nllrnicsea aqkrsldr // LOCUS NP_001229260 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin specific peptidase 17 like family member 28 [Homo sapiens]. ACCESSION NP_001229260 XP_001130452 VERSION NP_001229260.1 DBSOURCE REFSEQ: accession NM_001242331.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC116655.7. On May 28, 2011 this sequence version replaced XP_001130452.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000504543.1/ ENSP00000423777.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin specific peptidase 17 like family member 28" /calculated_mol_wt=59580 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L28" /coded_by="NM_001242331.1:1..1593" /db_xref="CCDS:CCDS59469.1" /db_xref="GeneID:728400" /db_xref="HGNC:HGNC:44456" ORIGIN 1 meddslylrg 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 daevtassit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel 421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllnls sstpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_001001821 318 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 2T34 [Homo sapiens]. ACCESSION NP_001001821 XP_060309 VERSION NP_001001821.1 DBSOURCE REFSEQ: accession NM_001001821.1 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 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 AC098483.2. On Aug 30, 2004 this sequence version replaced XP_060309.2. 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]. ##Evidence-Data-START## Transcript is intronless :: BC136926.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000328782.3/ ENSP00000330904.2 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="1" /map="1q44" Protein 1..318 /product="olfactory receptor 2T34" /note="olfactory receptor OR1-63" /calculated_mol_wt=35550 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGX1.1)" Site 10 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGX1.1)" Site 31..54 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGX1.1)" Region 38..310 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 46..295 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 63..84 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGX1.1)" Site 106..125 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGX1.1)" Site 145..163 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGX1.1)" Site 201..224 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGX1.1)" Site 242..264 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGX1.1)" Site 278..297 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGX1.1)" CDS 1..318 /gene="OR2T34" /coded_by="NM_001001821.1:1..957" /db_xref="CCDS:CCDS31120.1" /db_xref="GeneID:127068" /db_xref="HGNC:HGNC:31256" ORIGIN 1 mcsgnqtsqn qtastdftlt glfaeskhaa llytvtfllf lmaltgnall illihseprl 61 htpmyffisq lalmdlmylc vtvpkmlvgq vtgddtisps gcgiqmffhl tlagaevfll 121 aamaydryaa vcrplhypll mnqrvcqllv sacwvlgmvd gllltpitms fpfcqsrkil 181 sffcetpall klscsdvsly kmltylccil mlltpimvis ssytlilhli hrmnsaagrr 241 kalatcsshm iivlllfgas fytymlrssy htaeqdmmvs afytiftpvl npliyslrnk 301 dvtralrsmm qsrmnqek // LOCUS NP_001034201 1857 aa linear PRI 01-JUL-2020 DEFINITION fer-1-like protein 6 [Homo sapiens]. ACCESSION NP_001034201 VERSION NP_001034201.2 DBSOURCE REFSEQ: accession NM_001039112.2 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 1857) 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) COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC011134.15, AB196633.1, DW010047.1, AC100871.2 and DV080599.1. On Dec 8, 2006 this sequence version replaced NP_001034201.1. ##Evidence-Data-START## CDS exon combination :: AB196633.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2159080 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000522917.5/ ENSP00000428280.1 RefSeq Select criteria :: based on manual assertion, conservation ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1857 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="8" /map="8q24.13" Protein 1..1857 /product="fer-1-like protein 6" /note="fer-1-like 6" /calculated_mol_wt=209178 Region 80..189 /region_name="C2B_Ferlin" /note="C2 domain second repeat in Ferlin; cd04011" /db_xref="CDD:175978" Region 187..236 /region_name="FerI" /note="FerI (NUC094) domain; pfam08151" /db_xref="CDD:285377" Region 244..395 /region_name="C2C_Ferlin" /note="C2 domain third repeat in Ferlin; cd04018" /db_xref="CDD:175985" Site order(273,279,327,329,340,342) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:175985" Region 713..784 /region_name="FerB" /note="FerB (NUC096) domain; pfam08150" /db_xref="CDD:285376" Region 826..959 /region_name="C2D_Ferlin" /note="C2 domain fourth repeat in Ferlin; cd04017" /db_xref="CDD:175984" Site order(842,848,904,906) /site_type="other" /note="putative Ca2+ binding site [ion binding]" /db_xref="CDD:175984" Region 1357..1480 /region_name="C2E_Ferlin" /note="C2 domain fifth repeat in Ferlin; cd04037" /db_xref="CDD:176002" Site order(1372,1378,1427,1429,1434) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:176002" Region 1597..1730 /region_name="C2F_Ferlin" /note="C2 domain sixth repeat in Ferlin; cd08374" /db_xref="CDD:176020" Region 1741..1850 /region_name="Ferlin_C" /note="Ferlin C-terminus; pfam16165" /db_xref="CDD:292783" Site 1825..1845 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q2WGJ9.2)" CDS 1..1857 /gene="FER1L6" /gene_synonym="C8ORFK23" /coded_by="NM_001039112.2:207..5780" /db_xref="CCDS:CCDS43767.1" /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 qvdgtqpghd 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 NP_778237 345 aa linear PRI 01-JUL-2020 DEFINITION trace amine-associated receptor 6 [Homo sapiens]. ACCESSION NP_778237 VERSION NP_778237.1 DBSOURCE REFSEQ: accession NM_175067.1 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 345) AUTHORS Chang HS, Heo JS, Shin SW, Bae DJ, Song HJ, Jun JA, Kim JD, Park JS, Park BL, Shin HD and Park CS. TITLE Association between TAAR6 polymorphisms and airway responsiveness to inhaled corticosteroids in asthmatic patients JOURNAL Pharmacogenet. Genomics 25 (7), 334-342 (2015) PUBMED 25919112 REMARK GeneRIF: Among the 15 SNPs and seven haplotypes of TAAR6, rs7772821 (T>G) on the 3'-UTR showed the strongest correlation with inhaled corticosteroid-induced %DeltaFEV1 in asthmatics. REFERENCE 2 (residues 1 to 345) AUTHORS Pae CU, Drago A, Kim JJ, Patkar AA, Jun TY, De Ronchi D and Serretti A. TITLE TAAR6 variations possibly associated with antidepressant response and suicidal behavior JOURNAL Psychiatry Res 180 (1), 20-24 (2010) PUBMED 20493543 REMARK GeneRIF: The results of this study suggested a possible role of TAAR6 in antidepressant response and suicide behavior in patients with depressive disorder GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) REFERENCE 3 (residues 1 to 345) AUTHORS Pae CU, Drago A, Mandelli L, De Ronchi D and Serretti A. TITLE TAAR 6 and HSP-70 variations associated with bipolar disorder JOURNAL Neurosci. Lett. 465 (3), 257-261 (2009) PUBMED 19766166 REMARK GeneRIF: This study provides preliminary evidence that HSP-70 may play a role in the disrupted mechanisms that lead to BPD. GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) REFERENCE 4 (residues 1 to 345) AUTHORS Pae CU, Drago A, Patkar AA, Jun TY and Serretti A. TITLE Epistasis between a set of variations located in the TAAR6 and HSP-70 genes toward schizophrenia and response to antipsychotic treatment JOURNAL Eur Neuropsychopharmacol 19 (11), 806-811 (2009) PUBMED 19643584 REMARK GeneRIF: Analysis of epistasis between a set of variations located in the TAAR6 and HSP-70 genes found weak associations with the risk of psychosis and response to antipsychotic treatment GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) REFERENCE 5 (residues 1 to 345) AUTHORS Duan S, Du J, Xu Y, Xing Q, Wang H, Wu S, Chen Q, Li X, Li X, Shen J, Feng G and He L. TITLE Failure to find association between TRAR4 and schizophrenia in the Chinese Han population JOURNAL J Neural Transm (Vienna) 113 (3), 381-385 (2006) PUBMED 16075187 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 6 (residues 1 to 345) AUTHORS Lindemann L, Ebeling M, Kratochwil NA, Bunzow JR, Grandy DK and Hoener MC. TITLE Trace amine-associated receptors form structurally and functionally distinct subfamilies of novel G protein-coupled receptors JOURNAL Genomics 85 (3), 372-385 (2005) PUBMED 15718104 REFERENCE 7 (residues 1 to 345) AUTHORS Duan J, Martinez M, Sanders AR, Hou C, Saitou N, Kitano T, Mowry BJ, Crowe RR, Silverman JM, Levinson DF and Gejman PV. TITLE Polymorphisms in the trace amine receptor 4 (TRAR4) gene on chromosome 6q23.2 are associated with susceptibility to schizophrenia JOURNAL Am. J. Hum. Genet. 75 (4), 624-638 (2004) PUBMED 15329799 REMARK GeneRIF: TRAR4 is preferentially expressed in those brain regions that have been implicated in the pathophysiology of schizophrenia. REFERENCE 8 (residues 1 to 345) AUTHORS Borowsky B, Adham N, Jones KA, Raddatz R, Artymyshyn R, Ogozalek KL, Durkin MM, Lakhlani PP, Bonini JA, Pathirana S, Boyle N, Pu X, Kouranova E, Lichtblau H, Ochoa FY, Branchek TA and Gerald C. TITLE Trace amines: identification of a family of mammalian G protein-coupled receptors JOURNAL Proc. Natl. Acad. Sci. U.S.A. 98 (16), 8966-8971 (2001) PUBMED 11459929 REFERENCE 9 (residues 1 to 345) AUTHORS Kaufmann CA, Suarez B, Malaspina D, Pepple J, Svrakic D, Markel PD, Meyer J, Zambuto CT, Schmitt K, Matise TC, Harkavy Friedman JM, Hampe C, Lee H, Shore D, Wynne D, Faraone SV, Tsuang MT and Cloninger CR. TITLE NIMH Genetics Initiative Millenium Schizophrenia Consortium: linkage analysis of African-American pedigrees JOURNAL Am. J. Med. Genet. 81 (4), 282-289 (1998) PUBMED 9674972 REFERENCE 10 (residues 1 to 345) AUTHORS Cao Q, Martinez M, Zhang J, Sanders AR, Badner JA, Cravchik A, Markey CJ, Beshah E, Guroff JJ, Maxwell ME, Kazuba DM, Whiten R, Goldin LR, Gershon ES and Gejman PV. TITLE Suggestive evidence for a schizophrenia susceptibility locus on chromosome 6q and a confirmation in an independent series of pedigrees JOURNAL Genomics 43 (1), 1-8 (1997) PUBMED 9226366 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AY183470.1. This sequence is a reference standard in the RefSeqGene project. Summary: This gene encodes a seven-transmembrane G-protein-coupled receptor that likely functions as a receptor for endogenous trace amines. Mutations in this gene may be associated with schizophrenia.[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 is intronless :: BC069157.1, AY183470.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000275198.1/ ENSP00000275198.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..345 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6q23.2" Protein 1..345 /product="trace amine-associated receptor 6" /note="trace amine receptor 4; trace amine receptor 6" /calculated_mol_wt=38320 Site 4 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96RI8.1)" Site 19 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96RI8.1)" Site 33..53 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96RI8.1)" Region 43..>271 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 49..311 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 69..89 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96RI8.1)" Site 108..128 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96RI8.1)" Site 148..168 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96RI8.1)" Site 203..223 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96RI8.1)" Site 260..276 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96RI8.1)" Site 283..302 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96RI8.1)" CDS 1..345 /gene="TAAR6" /gene_synonym="TA4; taR-4; taR-6; TAR4; TAR6; TRAR4" /coded_by="NM_175067.1:1..1038" /db_xref="CCDS:CCDS5155.1" /db_xref="GeneID:319100" /db_xref="HGNC:HGNC:20978" /db_xref="MIM:608923" ORIGIN 1 mssnssllva vqlcyanvng scvkipfspg srvilyivfg fgavlavfgn llvmisilhf 61 kqlhsptnfl vaslacadfl vgvtvmpfsm vrtvescwyf grsfctfhtc cdvafcyssl 121 fhlcfisidr yiavtdplvy ptkftvsvsg icisvswilp lmysgavfyt gvyddgleel 181 sdalnciggc qtvvnqnwvl tdflsffipt fimiilygni flvarrqakk ientgsktes 241 ssesykarva rrerkaaktl gvtvvafmis wlpysidsli dafmgfitpa ciyeiccwca 301 yynsamnpli yalfypwfrk aikvivtgqv lknssatmnl fsehi // LOCUS NP_001243803 530 aa linear PRI 01-JUL-2020 DEFINITION inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 4 [Homo sapiens]. ACCESSION NP_001243803 VERSION NP_001243803.1 DBSOURCE REFSEQ: accession NM_001256874.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC130360.4. 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. 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## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000526929.1/ ENSP00000485243.1 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="inactive ubiquitin carboxyl-terminal hydrolase 17-like protein 4" /calculated_mol_wt=59505 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region 375..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L4" /coded_by="NM_001256874.1:1..1593" /db_xref="CCDS:CCDS78299.1" /db_xref="GeneID:645402" /db_xref="HGNC:HGNC:37176" ORIGIN 1 mgddslylgg ewqfnhfskl tssrpdaafa eiqrtslpek splssetrvd lcddlapvar 61 qlapreklpl ssrrpaavga glqnmgntcy enaslqclty tlplanymls rehsqtcqrp 121 kccmlctmqa hitwalhspg hviqpsqala agfhrgkqed vheflmftvd amkkaclpgh 181 kqvdhhskdt tlihqifggc wrsqikclhc hgisdtfdpy ldialdiqaa qsvkqaleql 241 vkpeelngen ayhcglclqr apasntltlh tsakvlilvl krfsdvagnk laknvqypec 301 ldmqpymsqq ntgplvyvly avlvhagwsc hdgyyfsyvk aqegqwykmd daevtvcsit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rpatqgelkr dhpclqvpel 421 dehlverate estldhwkfp qeqnkmkpef nvrkvegtlp pnvlvihqsk ykcgmknhhp 481 eqqssllnls smnstdqesm ntgtlaslqg rtrrskgknk hskrsllvcq // LOCUS NP_001138668 1343 aa linear PRI 01-JUL-2020 DEFINITION spermatogenesis-associated protein 31A6 [Homo sapiens]. ACCESSION NP_001138668 VERSION NP_001138668.1 DBSOURCE REFSEQ: accession NM_001145196.1 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 1343) AUTHORS Zuo Y, Gao J, Yeung WS and Lee KF. TITLE The testis-specific VAD1.3/AEP1 interacts with beta-actin and syntaxin 1 and directs peri-nuclear/Golgi expression with bipartite nucleus localization (BNL) sequence JOURNAL Biochem. Biophys. Res. Commun. 401 (2), 275-280 (2010) PUBMED 20850414 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL445584.16. 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, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000332857.7/ ENSP00000329825.6 RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1343 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9p11.2" Protein 1..1343 /product="spermatogenesis-associated protein 31A6" /note="family with sequence similarity 75, member A6" /calculated_mol_wt=147687 Site 23..43 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q5VVP1.1)" Region 76..155 /region_name="DUF4599" /note="Domain of unknown function (DUF4599); pfam15371" /db_xref="CDD:292015" Region 396..750 /region_name="FAM75" /note="FAM75 family; pfam14650" /db_xref="CDD:291323" CDS 1..1343 /gene="SPATA31A6" /gene_synonym="FAM75A6" /coded_by="NM_001145196.1:30..4061" /db_xref="CCDS:CCDS75837.1" /db_xref="GeneID:389730" /db_xref="HGNC:HGNC:32006" ORIGIN 1 menlpfplkl lsasslnaps stpwvldifl tlvfalgfff lllpylsyfh cddppspspg 61 krkcpvgrrr rprgrmknhs lragrecprg leetsdllsq lqsllgphld kgdfgqlsgp 121 dppgevgera pdgasqsshe pmedaapils plaspdpqak hpqdlastps pgpmttsvss 181 lsasqppeps lplehpspep palfphppht pdplacsppp pkgftapplr dstlitpshc 241 dsvalplgtv pqslsphedl vasvpaisgl ggsnshvsas srwqetarts cafnssvqqd 301 plsrhppetc qmeagslfll ssdgqnvvgi qvtetakvni weekenvgsf tnqmtpekhl 361 nslgnlaksl daeqdttnpk pfwnmgensk qlpgpqkcsd prllqesfwk nysqlfwglp 421 slhseslvan awvtdrsytl qsppflfnem snvcpiqret tmspllfqaq plshrqpfis 481 stpqflptpm aqaeaqahlq ssfpvlspaf pslikntgva cpasqnkvqa lslpetqhpe 541 wpllrkqleg rlalpsrvqk sqdvfsvstp nlpqesltsi lpenfpvspe lrrqleqhik 601 kwiiqhwgnl griqesldlm qlrdespgts qakgkpspwq sststgessk eaqkvkfqle 661 rdlcphlgqi lgetpqnlsr dmksfprkvl gvtseesern lrkplrsdsg sdllrctert 721 hienilkahm grnlgqtneg lipvrvrrsw lavnqalpvs nthvktsnla apksgkacvn 781 taqvlsflep ctqqglgahi vrfwakhrwg lplrvlkpiq cfklekvssl sltqlagpss 841 atcesgagse vevdmflrkp pmaslrkqvl tkasdhmpes llasspawkq fqraprgips 901 wndhgplkpp pagqegrwps kpltysltgs tqqsrslgaq sskagetrea vpqcrvplet 961 cmlanlqats edvhgfeapg tsksslhprv svsqdprklc lmeevvsefe pgmatksetq 1021 pqvcaavvll pdgqasvvph asenlvsqvp qghlqsmptg nmrasqelhd lmaarrsklv 1081 qeeprnpncq gscksqrpmf ppihkseksr kpnlekheer leglrtpqlt pvrktedthq 1141 degvqllpsk kqppsvshfg enikqffqwi fskkkskpap vtaesqktvk nrscvysssa 1201 eaqglmtavg qmldkkmslc hahhaskvnq hkqkfqapvc gfpcnhrhlf ysehgrilsy 1261 aassqqatlk sqgcpnrdrq irnqqplksv rcnneqwglr hpqilhpkka vspvsppqhw 1321 pktsgasshh hhcprhcllw egi // LOCUS NP_001123876 221 aa linear PRI 01-JUL-2020 DEFINITION proline-rich protein 20B [Homo sapiens]. ACCESSION NP_001123876 XP_001132952 VERSION NP_001123876.1 DBSOURCE REFSEQ: accession NM_001130404.1 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 221) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL353652.17. On Jul 23, 2008 this sequence version replaced XP_001132952.1. SUMMARY: This gene is one of five identical loci in a cluster on chromosome 13q21.1. The predicted protein is proline-rich and contains several dopamine D4 receptor signatures and PRINTS domains. [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. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000377930.1/ ENSP00000367163.1 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="13" /map="13q21.1" Protein 1..221 /product="proline-rich protein 20B" /note="FLJ40296 protein family member; Proline-rich protein 20E; Proline-rich protein 20C; Proline-rich protein 20D; Proline-rich protein 20A" /calculated_mol_wt=23131 Region 1..221 /region_name="PRR20" /note="Proline-rich protein family 20; pfam15708" /db_xref="CDD:318009" CDS 1..221 /gene="PRR20B" /gene_synonym="PRR20; PRR20A; PRR20C; PRR20D; PRR20E" /coded_by="NM_001130404.1:234..899" /db_xref="CCDS:CCDS45053.1" /db_xref="GeneID:729233" /db_xref="HGNC:HGNC:37220" ORIGIN 1 meeprpskrl rsmapnqasg gpppepgccv adpegsvead gpaqpaqpak piayvkpfrr 61 qpparpespp paergrrrgg srrpgrgrgr ragprgdagq rqgaeglmap dvhiqldhhg 121 epghqgepei tetaafslse tgpppgtvqe gpgpdvaqpe lgfqeppaap gpqavdwqpv 181 ltlypcigfr algdsavlqv iqtpqgtyvq gvpvfltdia y // LOCUS NP_001121549 44 aa linear PRI 01-JUL-2020 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_001001413 668 aa linear PRI 01-JUL-2020 DEFINITION golgin subfamily A member 6-like protein 1 [Homo sapiens]. ACCESSION NP_001001413 XP_934432 VERSION NP_001001413.3 DBSOURCE REFSEQ: accession NM_001001413.3 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 668) 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 2 (residues 1 to 668) 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 AC116165.8. On Feb 4, 2009 this sequence version replaced NP_001001413.2. 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## RNAseq introns :: single sample supports all introns SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000614055.2/ ENSP00000478478.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..668 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q11.2" Protein 1..668 /product="golgin subfamily A member 6-like protein 1" /note="golgi autoantigen, golgin subfamily a, 6-like 1" /calculated_mol_wt=82938 Region <1..50 /region_name="Amelogenin" /note="Amelogenin; cl25716" /db_xref="CDD:330537" Region <5..>98 /region_name="DUF4045" /note="Domain of unknown function (DUF4045); cl25751" /db_xref="CDD:330572" Region <185..658 /region_name="Neuromodulin_N" /note="Gap junction protein N-terminal region; cl26511" /db_xref="CDD:331332" CDS 1..668 /gene="GOLGA6L1" /coded_by="NM_001001413.3:92..2098" /db_xref="CCDS:CCDS73699.1" /db_xref="GeneID:283767" /db_xref="HGNC:HGNC:37444" ORIGIN 1 mlmwpqphlp thphlpthph lpthphlpth phlpthphlp thphlpthpm msketrqskl 61 aeakeqltdh hpqtnpsvgt aasdtkkkki nngtnpettt sggchspede qkashqhqea 121 lrreleaqvh tiriltcqkt elqmalyysq havkqlegea rdlisrlhds wkfageleqa 181 lsavatqkkk adryieeltk erdalslely rntitdeelk eknaklqekl qlveseksei 241 qlnvkelkrk leraklllpq qqlqaeadhl gkelqsvsak lqaqveenel wnrlnqqqee 301 kmwrqeekiq eweekiqeqe ekireqeeki reqeekmrrq eemmwekeek mrrqeemmwe 361 keekmrrlee mmwekeekir eleekmheqe kireqeekrq eeekireqek rqeqeakmwr 421 qeekireqee kireqekkmw rqeekiheqe kireeekrqe qeemwrqeek ireqeeiwrq 481 kekmheqeki rkqeekvwrq eekmhdqeek ireqeekmwr qeekireqee kireqeekir 541 eqeemmqeqe ekmgeqeekm qeqekmrrqe ekireqeeki reqkekireq eekiweqeek 601 ireqeemmqe qeekmweqee kmceqeekmq eqeekmrrqe ekmweqevrl rqqeekmqeh 661 qehleaai // LOCUS NP_001498 412 aa linear PRI 01-JUL-2020 DEFINITION motilin receptor [Homo sapiens]. ACCESSION NP_001498 VERSION NP_001498.1 DBSOURCE REFSEQ: accession NM_001507.1 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 412) AUTHORS Kawamura T, Matsuura B, Miyake T, Abe M, Ikeda Y and Hiasa Y. TITLE Effects of Motilin Receptor Agonists and Ghrelin in Human motilin receptor Transgenic Mice JOURNAL Int J Mol Sci 20 (7), E1521 (2019) PUBMED 30934667 REMARK GeneRIF: human motilin receptor transgenic (Tg) mice were tested with experiments evaluating the effects of motilin, erythromycin (EM), and ghrelin. Publication Status: Online-Only REFERENCE 2 (residues 1 to 412) AUTHORS Utsunomiya S, Matsuura B, Ueda T, Miyake T, Furukawa S, Kumagi T, Ikeda Y, Abe M, Hiasa Y and Onji M. TITLE Critical residues in the transmembrane helical bundle domains of the human motilin receptor for erythromycin binding and activity JOURNAL Regul. Pept. 180, 17-25 (2013) PUBMED 23142315 REMARK GeneRIF: data support important roles of new regions in the TM domains of the motilin receptor for erythromycin action, suggesting differential mechanisms of actions by peptidyl and non-peptidyl ligands REFERENCE 3 (residues 1 to 412) AUTHORS Nunoi H, Matsuura B, Utsunomiya S, Ueda T, Miyake T, Furukawa S, Kumagi T, Ikeda Y, Abe M, Hiasa Y and Onji M. TITLE A relationship between motilin and growth hormone secretagogue receptors JOURNAL Regul. Pept. 176 (1-3), 28-35 (2012) PUBMED 22465164 REMARK GeneRIF: The data suggested that in species expressing both motilin-MR and ghrelin-GHSR, there is a compensatory relationship in vivo. REFERENCE 4 (residues 1 to 412) 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 5 (residues 1 to 412) AUTHORS Mitselos A, Peeters TL and Depoortere I. TITLE Desensitization and internalization of the human motilin receptor is independent of the C-terminal tail JOURNAL Peptides 29 (7), 1167-1175 (2008) PUBMED 18420306 REMARK GeneRIF: Desensitization and internalization of MLNR is independent of the C-terminal tail. REFERENCE 6 (residues 1 to 412) AUTHORS Thielemans L, Depoortere I, Van Assche G, Bender E and Peeters TL. TITLE Demonstration of a functional motilin receptor in TE671 cells from human cerebellum JOURNAL Brain Res. 895 (1-2), 119-128 (2001) PUBMED 11259768 REFERENCE 7 (residues 1 to 412) AUTHORS Smith RG, Leonard R, Bailey AR, Palyha O, Feighner S, Tan C, Mckee KK, Pong SS, Griffin P and Howard A. TITLE Growth hormone secretagogue receptor family members and ligands JOURNAL Endocrine 14 (1), 9-14 (2001) PUBMED 11322507 REMARK Review article REFERENCE 8 (residues 1 to 412) AUTHORS Miller P, Roy A, St-Pierre S, Dagenais M, Lapointe R and Poitras P. TITLE Motilin receptors in the human antrum JOURNAL Am. J. Physiol. Gastrointest. Liver Physiol. 278 (1), G18-G23 (2000) PUBMED 10644557 REFERENCE 9 (residues 1 to 412) AUTHORS Feighner SD, Tan CP, McKee KK, Palyha OC, Hreniuk DL, Pong SS, Austin CP, Figueroa D, MacNeil D, Cascieri MA, Nargund R, Bakshi R, Abramovitz M, Stocco R, Kargman S, O'Neill G, Van Der Ploeg LH, Evans J, Patchett AA, Smith RG and Howard AD. TITLE Receptor for motilin identified in the human gastrointestinal system JOURNAL Science 284 (5423), 2184-2188 (1999) PUBMED 10381885 REFERENCE 10 (residues 1 to 412) AUTHORS McKee KK, Tan CP, Palyha OC, Liu J, Feighner SD, Hreniuk DL, Smith RG, Howard AD and Van der Ploeg LH. TITLE Cloning and characterization of two human G protein-coupled receptor genes (GPR38 and GPR39) related to the growth hormone secretagogue and neurotensin receptors JOURNAL Genomics 46 (3), 426-434 (1997) PUBMED 9441746 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AY603964.1. This sequence is a reference standard in the RefSeqGene project. Summary: Motilin is a 22 amino acid peptide hormone expressed throughout the gastrointestinal (GI) tract. The protein encoded by this gene is a motilin receptor which is a member of the G-protein coupled receptor 1 family. This member is a multi-pass transmembrane protein, and is an important therapeutic target for the treatment of hypomotility disorders. [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 :: AY603964.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145240, SAMEA2145313 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000218721.1/ ENSP00000218721.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..412 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="13" /map="13q14.2" Protein 1..412 /product="motilin receptor" /note="G protein-coupled receptor 38" /calculated_mol_wt=45213 Site 6 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O43193.1)" Site 36..56 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O43193.1)" Region 55..355 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 75..94 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O43193.1)" Site 113..134 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O43193.1)" Site 158..178 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O43193.1)" Site 192 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O43193.1)" Site 247..270 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O43193.1)" Site 299..320 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O43193.1)" Site 335..358 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O43193.1)" CDS 1..412 /gene="MLNR" /gene_synonym="GPR38; MTLR1" /coded_by="NM_001507.1:1..1239" /db_xref="CCDS:CCDS9414.1" /db_xref="GeneID:2862" /db_xref="HGNC:HGNC:4495" /db_xref="MIM:602885" ORIGIN 1 mgspwngsdg pegareppwp alppcderrc spfplgalvp vtavclclfv vgvsgnvvtv 61 mligryrdmr tttnlylgsm avsdllillg lpfdlyrlwr srpwvfgpll crlslyvgeg 121 ctyatllhmt alsverylai crplrarvlv trrrvralia vlwavallsa gpflflvgve 181 qdpgisvvpg lngtariass plasspplwl srapppspps gpetaeaaal fsrecrpspa 241 qlgalrvmlw vttayfflpf lclsilygli grelwssrrp lrgpaasgre rghrqtvrvl 301 lvvvlafiic wlpfhvgrii yintedsrmm yfsqyfniva lqlfylsasi npilynlisk 361 kyraaafkll larksrprgf hrsrdtagev agdtggdtvg ytetsanvkt mg // LOCUS NP_001229259 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin specific peptidase 17 like family member 27 [Homo sapiens]. ACCESSION NP_001229259 XP_001130444 VERSION NP_001229259.1 DBSOURCE REFSEQ: accession NM_001242330.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC116655.7. On May 28, 2011 this sequence version replaced XP_001130444.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000515574.1/ ENSP00000423211.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin specific peptidase 17 like family member 27" /calculated_mol_wt=59580 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L27" /coded_by="NM_001242330.1:1..1593" /db_xref="CCDS:CCDS59468.1" /db_xref="GeneID:728393" /db_xref="HGNC:HGNC:44455" ORIGIN 1 meddslylrg 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 daevtassit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rratqgelkr dhpclqapel 421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllnls sstpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_001032893 79 aa linear PRI 01-JUL-2020 DEFINITION beta-defensin 130A precursor [Homo sapiens]. ACCESSION NP_001032893 VERSION NP_001032893.1 DBSOURCE REFSEQ: accession NM_001037804.1 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 79) AUTHORS Terkawi MA, Takano R, Furukawa A, Murakoshi F and Kato K. TITLE Involvement of beta-defensin 130 (DEFB130) in the macrophage microbicidal mechanisms for killing Plasmodium falciparum JOURNAL Sci Rep 7, 41772 (2017) PUBMED 28181499 REMARK GeneRIF: these results suggest that DEFB130 might be one of the macrophage effector molecules for eliminating malarial parasites. Our data broaden our knowledge of the immunological response of macrophages to iRBCs and shed light on a new target for therapeutic intervention. Publication Status: Online-Only REFERENCE 2 (residues 1 to 79) AUTHORS Patil AA, Cai Y, Sang Y, Blecha F and Zhang G. TITLE Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract JOURNAL Physiol. Genomics 23 (1), 5-17 (2005) PUBMED 16033865 REMARK GeneRIF: The protein encoded by this gene is thought to display antimicrobial activity. REFERENCE 3 (residues 1 to 79) 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] COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DQ012022.1. 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 8p23. [provided by RefSeq, Nov 2014]. ##Evidence-Data-START## Transcript exon combination :: DQ012022.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000400079.1/ ENSP00000382951.1 Protein has antimicrobial activity :: PMID: 16033865 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="8" /map="8p23.1" Protein 1..79 /product="beta-defensin 130A precursor" /note="defensin, beta 30; beta-defensin 130; beta-defensin 30; defensin beta 130; beta-defensin 130A" /calculated_mol_wt=6302 sig_peptide 1..22 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2452 mat_peptide 23..79 /product="beta-defensin 130A" /experiment="DESCRIPTION:antimicrobial peptide[PMID: 16033865]" /calculated_mol_wt=6302 CDS 1..79 /gene="DEFB130A" /gene_synonym="DEFB-30; DEFB130; DEFB130L; DEFB30" /coded_by="NM_001037804.1:1..240" /db_xref="CCDS:CCDS43714.1" /db_xref="GeneID:245940" /db_xref="HGNC:HGNC:18107" ORIGIN 1 mklhslisvl llfvtlipkg ktgvipgqkq cialkgvcrd klcstlddti gicnegkkcc 61 rrwwilepyp tpvpkgksp // LOCUS NP_001028252 351 aa linear PRI 01-JUL-2020 DEFINITION trace amine-associated receptor 2 isoform 1 [Homo sapiens]. ACCESSION NP_001028252 VERSION NP_001028252.1 DBSOURCE REFSEQ: accession NM_001033080.1 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 351) AUTHORS Babusyte A, Kotthoff M, Fiedler J and Krautwurst D. TITLE Biogenic amines activate blood leukocytes via trace amine-associated receptors TAAR1 and TAAR2 JOURNAL J. Leukoc. Biol. 93 (3), 387-394 (2013) PUBMED 23315425 REMARK GeneRIF: biogenic amines potently regulate blood cell functions via TAAR1 and TAAR2 and open the perspective of their specific pharmacological modulation. REFERENCE 2 (residues 1 to 351) 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 351) AUTHORS Liberles SD and Buck LB. TITLE A second class of chemosensory receptors in the olfactory epithelium JOURNAL Nature 442 (7103), 645-650 (2006) PUBMED 16878137 REMARK GeneRIF: Previous studies reported TAAR expression in brain. This paper found TAAR expression only in olfactory epithelial cells and that each TAAR detects a unique set of amine ligands. TAARs seem to function as a family of chemosensory receptors for amines. REFERENCE 4 (residues 1 to 351) AUTHORS Lindemann L, Ebeling M, Kratochwil NA, Bunzow JR, Grandy DK and Hoener MC. TITLE Trace amine-associated receptors form structurally and functionally distinct subfamilies of novel G protein-coupled receptors JOURNAL Genomics 85 (3), 372-385 (2005) PUBMED 15718104 REFERENCE 5 (residues 1 to 351) AUTHORS Lee DK, Lynch KR, Nguyen T, Im DS, Cheng R, Saldivia VR, Liu Y, Liu IS, Heng HH, Seeman P, George SR, O'Dowd BF and Marchese A. TITLE Cloning and characterization of additional members of the G protein-coupled receptor family JOURNAL Biochim. Biophys. Acta 1490 (3), 311-323 (2000) PUBMED 10684976 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AY703480.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: AY703480.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000367931.1/ ENSP00000356908.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..351 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6q23.2" Protein 1..351 /product="trace amine-associated receptor 2 isoform 1" /note="G protein-coupled receptor 58" /calculated_mol_wt=40003 Site 24 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9P1P5.2)" Site 30 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9P1P5.2)" Site 49..69 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9P1P5.2)" Region 53..>180 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 60..315 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 80..100 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9P1P5.2)" Site 119..139 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9P1P5.2)" Site 163..183 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9P1P5.2)" Site 208..228 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9P1P5.2)" Site 264..284 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9P1P5.2)" Site 289 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9P1P5.2)" Site 300..322 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9P1P5.2)" CDS 1..351 /gene="TAAR2" /gene_synonym="GPR58; taR-2" /coded_by="NM_001033080.1:1..1056" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS34541.1" /db_xref="GeneID:9287" /db_xref="HGNC:HGNC:4514" /db_xref="MIM:604849" ORIGIN 1 mavsseqhel shfkrtqtkk ekfncseygn rscpenersl gvrvamysfm agsifitifg 61 nlamiisisy fkqlhtptnf lilsmaitdf llgftimpys mirsvencwy fgltfckiyy 121 sfdlmlsits ifhlcsvaid rfyaicypll ystkitipvi krllllcwsv pgafafgvvf 181 seayadgieg ydilvacsss cpvmfnklwg ttlfmagfft pgsmmvgiyg kifavsrkha 241 hainnlrenq nnqvkkdkka aktlgivigv fllcwfpcff tilldpflnf stpvvlfdal 301 twfgyfnstc npliygffyp wfrralkyil lgkifsscfh ntilcmqkes e // LOCUS NP_058639 316 aa linear PRI 01-JUL-2020 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 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 2 (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 3 (residues 1 to 316) 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 4 (residues 1 to 316) AUTHORS Hirai R, Takao K, Onoda K, Kokubun S and Ikeda M. TITLE Patients with phantogeusia show increased expression of T2R taste receptor genes in their tongues JOURNAL Ann. Otol. Rhinol. Laryngol. 121 (2), 113-118 (2012) PUBMED 22397221 REMARK GeneRIF: Our results show that the expression rate of some of the T2R taste receptor genes was increased significantly in patients with phantogeusia. REFERENCE 5 (residues 1 to 316) 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 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 1..301 /region_name="TAS2R" /note="Taste receptor protein (TAS2R); pfam05296" /db_xref="CDD:283059" Site 7..27 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYW6.3)" Site 43..63 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYW6.3)" 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)" Site 166 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NYW6.3)" Site 187..207 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYW6.3)" Site 235..255 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NYW6.3)" 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_001019832 474 aa linear PRI 01-JUL-2020 DEFINITION PRAME family member 14 [Homo sapiens]. ACCESSION NP_001019832 VERSION NP_001019832.2 DBSOURCE REFSEQ: accession NM_001024661.2 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 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. Bioinformatics 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 AC243961.3. On Apr 9, 2014 this sequence version replaced NP_001019832.1. 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/partial sample support SAMEA2145743, SAMEA2148874 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000334600.7/ ENSP00000334410.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##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 14" /calculated_mol_wt=54950 CDS 1..474 /gene="PRAMEF14" /coded_by="NM_001024661.2:104..1528" /db_xref="CCDS:CCDS76109.1" /db_xref="GeneID:729528" /db_xref="HGNC:HGNC:13576" ORIGIN 1 msiqapprll elagqsllrd qalsisamee lprvlylplf meafrrrhfq tltvmvqawp 61 ftclplgslm ktlhletlka lleglhmllt qkdrprrwkl qvldlrdvde nfwarwpgaw 121 alscfpetms krqtaedcpr mgehqplkvf idiclkeipq declrylfqw vyqrrglvhl 181 ccsklvnylt pikhlrkslk iiylnsiqql eirnmswprl irklrcylke mknlrklvfs 241 rchhsmsdne legrlvtkfs svflrlehlq llkiklitff sghleqlirc lqnplenlel 301 tygylleedm kclsqypslg ylkhlnlsyv llfrislepl gallekiaas letlilegcq 361 ihysqlsail pglshcsqlt tfyfgrncms mgalkdllch tsglsklsle typapeesln 421 slvrvdweif allraelmct lrevrqpkri figptpcpsc gsspseelel hlcc // LOCUS NP_001004757 317 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 51Q1 [Homo sapiens]. ACCESSION NP_001004757 XP_372355 VERSION NP_001004757.1 DBSOURCE REFSEQ: accession NM_001004757.2 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 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 AC087380.3. On Sep 22, 2004 this sequence version replaced XP_372355.1. 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. ##Evidence-Data-START## Transcript is intronless :: BC136999.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000300778.4/ ENSP00000300778.4 polymorphic pseudogene :: based on alignments, homology 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="11" /map="11p15.4" Protein 1..317 /product="olfactory receptor 51Q1" /calculated_mol_wt=35616 Site 6 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NH59.2)" Region 27..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 (Q8NH59.2)" Site 57..77 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH59.2)" 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 (Q8NH59.2)" 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 (Q8NH59.2)" 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 (Q8NH59.2)" 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 (Q8NH59.2)" 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 (Q8NH59.2)" CDS 1..317 /gene="OR51Q1" /coded_by="NM_001004757.2:91..1044" /db_xref="CCDS:CCDS31381.1" /db_xref="GeneID:390061" /db_xref="HGNC:HGNC:14851" ORIGIN 1 msqvtnttqe giyfiltdip gfeashiwis ipvcclytis imgnttiltv irtepsvhqr 61 mylflsmlal tdlgltlttl ptvmqllwfn vrrisseacf aqffflhgfs fmessvllam 121 svdcyvaicc plhyasiltn evigrtglai icccvlavlp slfllkrlpf chshllsrsy 181 clhqdmirlv cadirlnswy gfalalliii vdpllivisy tlilknilgt atwaerlral 241 nnclshilav lvlyipmvgv smthrfakha splvhviman iyllappvmn piiysvknkq 301 iqwgmlnfls lknmhsr // LOCUS NP_001129624 215 aa linear PRI 01-JUL-2020 DEFINITION putative glycosyltransferase ALG1L2 [Homo sapiens]. ACCESSION NP_001129624 XP_001717786 XP_001724617 XP_001732910 VERSION NP_001129624.1 DBSOURCE REFSEQ: accession NM_001136152.1 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 215) 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 BI833803.1 and BC127756.1. On or before Oct 25, 2008 this sequence version replaced XP_001732910.1, XP_001724617.1, XP_001717786.1. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000425059.1/ ENSP00000479850.1 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="3" /map="3q22.1" Protein 1..215 /product="putative glycosyltransferase ALG1L2" /note="asparagine-linked glycosylation 1-like 2" /calculated_mol_wt=24023 Region <8..206 /region_name="Glycosyltransferase_GTB_type" /note="Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate...; cl10013" /db_xref="CDD:299143" CDS 1..215 /gene="ALG1L2" /coded_by="NM_001136152.1:187..834" /db_xref="GeneID:644974" /db_xref="HGNC:HGNC:37258" ORIGIN 1 mgatagwavt vydkpasffk eapldlqhrl fmklgsthsp frarsepedp dtersafter 61 dsgsglvtrl herpallvss tswtefeqlt ldgqnlpslv cvitgkgplr eyysrlihqk 121 hfqhiqvcip wlegrglppl lgsvdldvcl dtsssgldlp mkvvdmfrcc lpacavnfkc 181 lhelvkheen rlvfedseel aaqlqyfada flkls // LOCUS NP_001001919 318 aa linear PRI 01-JUL-2020 DEFINITION olfactory receptor 13C4 [Homo sapiens]. ACCESSION NP_001001919 XP_071098 VERSION NP_001001919.1 DBSOURCE REFSEQ: accession NM_001001919.1 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 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 2 (residues 1 to 318) 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 318) 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 318) AUTHORS Hoppe R, Breer H and Strotmann J. TITLE Organization and evolutionary relatedness of OR37 olfactory receptor genes in mouse and human JOURNAL Genomics 82 (3), 355-364 (2003) PUBMED 12906860 REFERENCE 5 (residues 1 to 318) 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 6 (residues 1 to 318) 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 COMMENT PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AL450426.7. On Oct 7, 2004 this sequence version replaced XP_071098.2. 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## MANE Ensembl match :: ENST00000277216.3/ ENSP00000277216.3 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="9" /map="9q31.1" Protein 1..318 /product="olfactory receptor 13C4" /note="olfactory receptor, family 2, subfamily K, member 1; olfactory receptor OR9-7" /calculated_mol_wt=35445 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGS5.1)" Site 26..46 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS5.1)" Region 34..314 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 41..296 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 55..75 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS5.1)" Site 100..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS5.1)" Site 140..160 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS5.1)" Site 198..217 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS5.1)" Site 238..258 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS5.1)" Site 278..298 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGS5.1)" CDS 1..318 /gene="OR13C4" /gene_synonym="HSHTPCRX17; HTPCRX17; OR2K1; OR37F; OR9-7" /coded_by="NM_001001919.1:1..957" /db_xref="CCDS:CCDS35088.1" /db_xref="GeneID:138804" /db_xref="HGNC:HGNC:14722" ORIGIN 1 mdkinqtfvr efillglsgy pkleiiffal ilvmyvvili gngvliiasi ldsrlhmpmy 61 fflgnlsfld icyttssips tlvsliskkr nisfsgcavq mffgfamgst ecfllgmmaf 121 dryvaicnpl rypiimnkvv yvlltsvswl sgginstvqt slamrwpfcg nniinhflce 181 ilavlklacs disvnivtla vsniaflvlp llviffsymf ilytilrtns atgrhkafst 241 csahltvvii fygtiffmya kpksqdllgk dnlqateglv smfygvvtpm lnpiiyslrn 301 kdvkaaikyl lsrkainq // LOCUS NP_001013757 432 aa linear PRI 01-JUL-2020 DEFINITION forkhead box protein B2 [Homo sapiens]. ACCESSION NP_001013757 XP_498331 VERSION NP_001013757.1 DBSOURCE REFSEQ: accession NM_001013735.1 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 432) AUTHORS Moparthi L, Pizzolato G and Koch S. TITLE Wnt activator FOXB2 drives the neuroendocrine differentiation of prostate cancer JOURNAL Proc. Natl. Acad. Sci. U.S.A. 116 (44), 22189-22195 (2019) PUBMED 31611391 REMARK GeneRIF: FOXB2 strongly activates Wnt signaling via the neurogenic ligand WNT7B and imposes a neuronal differentiation program on prostate cancer cells. REFERENCE 2 (residues 1 to 432) 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 AL353637.21. On Mar 30, 2005 this sequence version replaced XP_498331.1. 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 :: ENST00000376708.1/ ENSP00000365898.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..432 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q21.2" Protein 1..432 /product="forkhead box protein B2" /calculated_mol_wt=45450 Region 13..101 /region_name="FH" /note="FORKHEAD; smart00339" /db_xref="CDD:214627" Site order(49..50,59,62..63,83) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238016" CDS 1..432 /gene="FOXB2" /gene_synonym="bA159H20.4" /coded_by="NM_001013735.1:1..1299" /db_xref="CCDS:CCDS35045.1" /db_xref="GeneID:442425" /db_xref="HGNC:HGNC:23315" ORIGIN 1 mprpgkssys dqkppysyis ltamaiqhsa ekmlplsdiy kfimerfpyy rehtqrwqns 61 lrhnlsfndc fikiprrpdq pgkgsfwalh pdcgdmfeng sflrrrkrfk vlradhthlh 121 agstksapga gpgghlhphh hhhphhhhhh haaahhhhhh hppqpppppp pppphmvhyf 181 hqqpptapqp pphlpsqppq qppqqsqpqq pshpgkmqea aavaaaaaaa aaaavgsvgr 241 lsqfppyglg saaaaaaaaa astsgfkhpf aieniigrdy kgvlqagglp lasvmhhlgy 301 pvpgqlgnvv ssvwphvgvm dsvaaaaaaa aaagvpvgpe ygafgvpvks lchsasqslp 361 ampvpikptp alppvsalqp gltvpaasqq ppapstvcsa aaaspvasll eptaptsaes 421 kggslhsvlv hs // LOCUS NP_001243788 530 aa linear PRI 01-JUL-2020 DEFINITION ubiquitin carboxyl-terminal hydrolase 17-like protein 18 [Homo sapiens]. ACCESSION NP_001243788 XP_002342476 VERSION NP_001243788.1 DBSOURCE REFSEQ: accession NM_001256859.1 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 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 5 (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 6 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ and Johnston JA. TITLE The DUB/USP17 deubiquitinating enzymes, a multigene family within a tandemly repeated sequence JOURNAL Genomics 85 (4), 524-529 (2005) PUBMED 15780755 REFERENCE 7 (residues 1 to 530) AUTHORS Burrows JF, McGrattan MJ, Rascle A, Humbert M, Baek KH and Johnston JA. TITLE DUB-3, a cytokine-inducible deubiquitinating enzyme that blocks proliferation JOURNAL J. Biol. Chem. 279 (14), 13993-14000 (2004) PUBMED 14699124 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 AC108519.4. On Mar 3, 2012 this sequence version replaced XP_002342476.1. 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 and it is therefore inferred, but it is supported by data in PMID:10936051. Publication Note: 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 :: ENST00000504209.1/ ENSP00000423503.1 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="4" /map="4p16.1" Protein 1..530 /product="ubiquitin carboxyl-terminal hydrolase 17-like protein 18" /EC_number="3.4.19.12" /calculated_mol_wt=59526 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" Region 80..372 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Site order(84,89,334,351) /site_type="active" /db_xref="CDD:239126" Region <426..454 /region_name="HABP4_PAI-RBP1" /note="Hyaluronan / mRNA binding family; pfam04774" /db_xref="CDD:282609" CDS 1..530 /gene="USP17L18" /coded_by="NM_001256859.1:1..1593" /db_xref="CCDS:CCDS59459.1" /db_xref="GeneID:100287364" /db_xref="HGNC:HGNC:44446" 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 ldmqpymsqt ntgplvyvly avlvhagwsc hnghyfsyvk aqegqwykmd daevtassit 361 svlsqqayvl fyiqksewer hsesvsrgre pralgaedtd rrakqgelkr dhpclqapel 421 dehlveratq estldhwkfl qeqnktkpef nvrkvegtlp pdvlvihqsk ykcgmknhhp 481 eqqssllnls sttpthqesm ntgtlaslrg rarrskgknk hskrallvcq // LOCUS NP_001371908 1222 aa linear PRI 01-JUL-2020 DEFINITION nuclear pore complex-interacting protein family member B4 isoform a [Homo sapiens]. ACCESSION NP_001371908 VERSION NP_001371908.1 DBSOURCE REFSEQ: accession NM_001384979.1 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 1222) 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 AC092375.4. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-3 all encode the same isoform (a). ##Evidence-Data-START## Transcript exon combination :: SRR1803617.172446.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1222 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p12.2" Protein 1..1222 /product="nuclear pore complex-interacting protein family member B4 isoform a" /note="nuclear pore complex interacting protein-like" /calculated_mol_wt=135096 CDS 1..1222 /gene="NPIPB4" /gene_synonym="61E3.4" /coded_by="NM_001384979.1:137..3805" /note="isoform a is encoded by transcript variant 2" /db_xref="GeneID:440345" /db_xref="HGNC:HGNC:41985" ORIGIN 1 mvklsivltp qflshdqgql tkelqqhvks vtcpceylrk vintladhhh rgtdfggspw 61 lhviiafpts ykvvitlwiv ylwvsllkti fwsrnghdgs tdvqqrawrs nrrrqeglrs 121 icmhtkkrvs sfrgnkivlk dvitlrrhve tkvrakirkr kvttkinhhd kingkrktar 181 kqkmfqraqe lrrraedyhk ckippsarka lcnwvrmaaa ehrhssglpy wpyltaetlk 241 nrmghqpppp tqqhsitdns lslktppecl ltplppsadd nlktppecvl tplppsaddn 301 lktppecvlt plppsaddnl ktppeclltp lppsaddklk tppeclltpl ppsalpsapp 361 saddnlktra ecllhplpps addnlktpse rqltplppsa ppsaddnikt paerlrgplp 421 psaddnlktp serqltplpp sappsaddni ktpaerlrgp lppsaddnlk tpserqltpl 481 ppsappsadd niktpaerlr gplppsaddn lktpserqlt plppsappsa ddniktpaer 541 lrgplppsad dnlktpserq ltplppsapp saddniktpa erlrgplpps addnlktpse 601 rqltplppsa ppsaddnikt pafhpqrmii srhlpsvssl pfhpqlhpqq miisryllsv 661 cgfrfhhqpm iisrhlpsvs slpfhpqlhp qqmiisrhlp svcggrfhpq rmiisrhlps 721 vsslpfhpql hpqqmiisrh lpsvcggrfh pqrmiisrhl psvsslpfhp qlhpqqmiis 781 rhlpsvcggr fhpqrmiisr hlpsvsslpf htqlhpqqmi isrhlpsvcg erlrgplpps 841 addnlktpse rqltplppsa ppsaddnikt paerlrgplp psaddnlktp serqltplpp 901 sappsaddni ktpaerlrgp lppsaddnlk tpserqltpl ppsappsadd niktpaerlr 961 gplppsaddn lktpserqlt plppsappsa ddniktpaer lrgplppsad dnlktpserq 1021 ltplppsapp saddniktpa erlrgplpps addnlktpse rqltplppsa ppsaddnikt 1081 paerlrgplp psaddnlktp platqeaeae kprkpkrqra aemepppepk rrrvgdveps 1141 rkpkrrraad vepsspepkr rrvgdvepsr kpkrrraadv epsspepkrr rvgdvepsrk 1201 pkrrraadve pslpepkrrr ls // LOCUS NP_001371910 1219 aa linear PRI 01-JUL-2020 DEFINITION nuclear pore complex-interacting protein family member B4 isoform b [Homo sapiens]. ACCESSION NP_001371910 VERSION NP_001371910.1 DBSOURCE REFSEQ: accession NM_001384981.1 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 1219) 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 AC092375.4. ##Evidence-Data-START## Transcript exon combination :: CR990996.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1219 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p12.2" Protein 1..1219 /product="nuclear pore complex-interacting protein family member B4 isoform b" /note="nuclear pore complex interacting protein-like" /calculated_mol_wt=134607 CDS 1..1219 /gene="NPIPB4" /gene_synonym="61E3.4" /coded_by="NM_001384981.1:311..3970" /note="isoform b is encoded by transcript variant 4" /db_xref="GeneID:440345" /db_xref="HGNC:HGNC:41985" ORIGIN 1 mpmrvpeevt lrnpgssgrk erpeagtgsw lgrtrnqvin tladhhhrgt dfggspwlhv 61 iiafptsykv vitlwivylw vsllktifws rnghdgstdv qqrawrsnrr rqeglrsicm 121 htkkrvssfr gnkivlkdvi tlrrhvetkv rakirkrkvt tkinhhdkin gkrktarkqk 181 mfqraqelrr raedyhkcki ppsarkalcn wvrmaaaehr hssglpywpy ltaetlknrm 241 ghqpppptqq hsitdnslsl ktppeclltp lppsaddnlk tppecvltpl ppsaddnlkt 301 ppecvltplp psaddnlktp peclltplpp saddklktpp eclltplpps alpsappsad 361 dnlktraecl lhplppsadd nlktpserql tplppsapps addniktpae rlrgplppsa 421 ddnlktpser qltplppsap psaddniktp aerlrgplpp saddnlktps erqltplpps 481 appsaddnik tpaerlrgpl ppsaddnlkt pserqltplp psappsaddn iktpaerlrg 541 plppsaddnl ktpserqltp lppsappsad dniktpaerl rgplppsadd nlktpserql 601 tplppsapps addniktpaf hpqrmiisrh lpsvsslpfh pqlhpqqmii sryllsvcgf 661 rfhhqpmiis rhlpsvsslp fhpqlhpqqm iisrhlpsvc ggrfhpqrmi isrhlpsvss 721 lpfhpqlhpq qmiisrhlps vcggrfhpqr miisrhlpsv sslpfhpqlh pqqmiisrhl 781 psvcggrfhp qrmiisrhlp svsslpfhtq lhpqqmiisr hlpsvcgerl rgplppsadd 841 nlktpserql tplppsapps addniktpae rlrgplppsa ddnlktpser qltplppsap 901 psaddniktp aerlrgplpp saddnlktps erqltplpps appsaddnik tpaerlrgpl 961 ppsaddnlkt pserqltplp psappsaddn iktpaerlrg plppsaddnl ktpserqltp 1021 lppsappsad dniktpaerl rgplppsadd nlktpserql tplppsapps addniktpae 1081 rlrgplppsa ddnlktppla tqeaeaekpr kpkrqraaem epppepkrrr vgdvepsrkp 1141 krrraadvep sspepkrrrv gdvepsrkpk rrraadveps spepkrrrvg dvepsrkpkr 1201 rraadvepsl pepkrrrls // LOCUS NP_001371911 1203 aa linear PRI 01-JUL-2020 DEFINITION nuclear pore complex-interacting protein family member B4 isoform c [Homo sapiens]. ACCESSION NP_001371911 VERSION NP_001371911.1 DBSOURCE REFSEQ: accession NM_001384982.1 KEYWORDS RefSeq. SOURCE Homo 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 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 AC092375.4. FEATURES Location/Qualifiers source 1..1203 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p12.2" Protein 1..1203 /product="nuclear pore complex-interacting protein family member B4 isoform c" /note="nuclear pore complex interacting protein-like" /calculated_mol_wt=132934 CDS 1..1203 /gene="NPIPB4" /gene_synonym="61E3.4" /coded_by="NM_001384982.1:415..4026" /note="isoform c is encoded by transcript variant 5" /db_xref="GeneID:440345" /db_xref="HGNC:HGNC:41985" ORIGIN 1 mfcclgyewl sggcktwhsa wvintladhh hrgtdfggsp wlhviiafpt sykvvitlwi 61 vylwvsllkt ifwsrnghdg stdvqqrawr snrrrqeglr sicmhtkkrv ssfrgnkivl 121 kdvitlrrhv etkvrakirk rkvttkinhh dkingkrkta rkqkmfqraq elrrraedyh 181 kckippsark alcnwvrmaa aehrhssglp ywpyltaetl knrmghqppp ptqqhsitdn 241 slslktppec lltplppsad dnlktppecv ltplppsadd nlktppecvl tplppsaddn 301 lktppecllt plppsaddkl ktppeclltp lppsalpsap psaddnlktr aecllhplpp 361 saddnlktps erqltplpps appsaddnik tpaerlrgpl ppsaddnlkt pserqltplp 421 psappsaddn iktpaerlrg plppsaddnl ktpserqltp lppsappsad dniktpaerl 481 rgplppsadd nlktpserql tplppsapps addniktpae rlrgplppsa ddnlktpser 541 qltplppsap psaddniktp aerlrgplpp saddnlktps erqltplpps appsaddnik 601 tpafhpqrmi isrhlpsvss lpfhpqlhpq qmiisrylls vcgfrfhhqp miisrhlpsv 661 sslpfhpqlh pqqmiisrhl psvcggrfhp qrmiisrhlp svsslpfhpq lhpqqmiisr 721 hlpsvcggrf hpqrmiisrh lpsvsslpfh pqlhpqqmii srhlpsvcgg rfhpqrmiis 781 rhlpsvsslp fhtqlhpqqm iisrhlpsvc gerlrgplpp saddnlktps erqltplpps 841 appsaddnik tpaerlrgpl ppsaddnlkt pserqltplp psappsaddn iktpaerlrg 901 plppsaddnl ktpserqltp lppsappsad dniktpaerl rgplppsadd nlktpserql 961 tplppsapps addniktpae rlrgplppsa ddnlktpser qltplppsap psaddniktp 1021 aerlrgplpp saddnlktps erqltplpps appsaddnik tpaerlrgpl ppsaddnlkt 1081 pplatqeaea ekprkpkrqr aaemepppep krrrvgdvep srkpkrrraa dvepsspepk 1141 rrrvgdveps rkpkrrraad vepsspepkr rrvgdvepsr kpkrrraadv epslpepkrr 1201 rls // LOCUS NP_001034929 224 aa linear PRI 01-JUL-2020 DEFINITION cysteine-rich hydrophobic domain-containing protein 1 isoform 1 [Homo sapiens]. ACCESSION NP_001034929 XP_933527 XP_937955 XP_937958 XP_941629 XP_947938 XP_947944 XP_947952 VERSION NP_001034929.2 DBSOURCE REFSEQ: accession NM_001039840.3 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 224) AUTHORS Cools J, Mentens N and Marynen P. TITLE A new family of small, palmitoylated, membrane-associated proteins, characterized by the presence of a cysteine-rich hydrophobic motif JOURNAL FEBS Lett. 492 (3), 204-209 (2001) PUBMED 11257495 REFERENCE 2 (residues 1 to 224) AUTHORS Simmler MC, Heard E, Rougeulle C, Cruaud C, Weissenbach J and Avner P. TITLE Localization and expression analysis of a novel conserved brain expressed transcript, Brx/BRX, lying within the Xic/XIC candidate region JOURNAL Mamm. Genome 8 (10), 760-766 (1997) PUBMED 9321471 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DC382882.1, BC127728.1, AL356513.15 and AI580377.1. This sequence is a reference standard in the RefSeqGene project. On Aug 4, 2007 this sequence version replaced NP_001034929.1. Summary: This gene encodes a cysteine-rich hydrophobic (CHIC) domain-containing protein, and is one of the few protein-coding genes found near the X-inactivation center. Studies in mouse indicate that the mouse ortholog of this gene is subject to X-inactivation in mouse. Experiments with other CHIC domain-containing family members show that the cysteine residues are palmitoylated post-translationally, resulting in membrane association. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]. 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## Transcript exon combination :: SRR1660803.176750.1, SRR1660809.251167.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..224 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq13.2" Protein 1..224 /product="cysteine-rich hydrophobic domain-containing protein 1 isoform 1" /note="brain X-linked protein; cysteine-rich hydrophobic domain-containing protein 1" /calculated_mol_wt=25485 Region 105..>137 /region_name="Erf4" /note="Golgin subfamily A member 7/ERF4 family; pfam10256" /db_xref="CDD:287258" CDS 1..224 /gene="CHIC1" /gene_synonym="BRX" /coded_by="NM_001039840.3:138..812" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS35335.2" /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 psvltgkvap 121 eefktsigrv naclkkalpv nvkwllcgcl cccctlgcsl wpviclnkrt rrsiqkliew 181 ennrlyhkla lhwkltkrkc etsnmmeyvi lieflpkypi frpd // LOCUS NP_001316990 124 aa linear PRI 02-JUL-2020 DEFINITION TP53-target gene 3 protein [Homo sapiens]. ACCESSION NP_001316990 XP_016879443 VERSION NP_001316990.1 DBSOURCE REFSEQ: accession NM_001330061.1 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 124) AUTHORS Ng CC, Koyama K, Okamura S, Kondoh H, Takei Y and Nakamura Y. TITLE Isolation and characterization of a novel TP53-inducible gene, TP53TG3 JOURNAL Genes Chromosomes Cancer 26 (4), 329-335 (1999) PUBMED 10534768 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC141257.2. On Aug 15, 2016 this sequence version replaced XP_016879443.1. 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 :: SRR5189667.48426.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on computational evidence ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..124 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p11.2" Protein 1..124 /product="TP53-target gene 3 protein" /note="TP53-inducible gene 3 protein" /calculated_mol_wt=12697 CDS 1..124 /gene="TP53TG3E" /gene_synonym="TP53TG3; TP53TG3B; TP53TG3C; TP53TG3D; TP53TG3F" /coded_by="NM_001330061.1:14..388" /db_xref="CCDS:CCDS81974.1" /db_xref="GeneID:102724101" /db_xref="HGNC:HGNC:51816" ORIGIN 1 mraspcisqp aaswhprpsa lrptagsgpd trtpgtvedg sapcpafrsp avspcgeepc 61 cfqispaeet lelgrlvspg ncdtlspraa gfyachvrsl ipcrstkgrw pltasaagls 121 sfsg // LOCUS NP_001337220 214 aa linear PRI 02-JUL-2020 DEFINITION putative serine protease 47 [Homo sapiens]. ACCESSION NP_001337220 VERSION NP_001337220.1 DBSOURCE REFSEQ: accession NM_001350291.1 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 214) 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 HY036024.1, AL136097.10 and HY221149.1. 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. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..214 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q22.31" Protein 1..214 /product="putative serine protease 47" /note="protease, serine 47" /calculated_mol_wt=23833 Region 68..>199 /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 68 /site_type="cleavage" /db_xref="CDD:238113" CDS 1..214 /gene="PRSS47" /coded_by="NM_001350291.1:64..708" /db_xref="GeneID:138652" /db_xref="HGNC:HGNC:37326" ORIGIN 1 mgdsthwlrs melhspetel scvqtkkinq dgnknssnvy mgylhfipgg srddikqvcg 61 kpkvvgkiyg grdaaagqwp wqasllywgs hlcgavlids cwlvstthcf lnksqapkny 121 qvllgniqly hqtqhtqkms vhriithpdf eklhpfgsdi amlqlhlpmn ftsyivpvcl 181 psrdmqlpsn vscwitgwgm ltedhkrgvg eagg // LOCUS NP_001317579 279 aa linear PRI 02-JUL-2020 DEFINITION T-cell-interacting, activating receptor on myeloid cells protein 1 isoform 2 [Homo sapiens]. ACCESSION NP_001317579 XP_005278335 VERSION NP_001317579.1 DBSOURCE REFSEQ: accession NM_001330650.1 KEYWORDS RefSeq. SOURCE Homo 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 Radjabova V, Mastroeni P, Skjodt K, Zaccone P, de Bono B, Goodall JC, Chilvers ER, Juss JK, Jones DC, Trowsdale J and Barrow AD. TITLE TARM1 Is a Novel Leukocyte Receptor Complex-Encoded ITAM Receptor That Costimulates Proinflammatory Cytokine Secretion by Macrophages and Neutrophils JOURNAL J. Immunol. 195 (7), 3149-3159 (2015) PUBMED 26311901 REMARK GeneRIF: These results suggest that a putative T cell ligand can interact with TARM1 receptor, resulting in bidirectional signaling and raising the T cell activation threshold while costimulating the release of proinflammatory cytokines by macrophages and neutrophils. REFERENCE 2 (residues 1 to 279) AUTHORS Kohn L, Bowne SJ, S Sullivan L, Daiger SP, Burstedt MS, Kadzhaev K, Sandgren O and Golovleva I. TITLE Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance JOURNAL Eur. J. Hum. Genet. 17 (5), 651-655 (2009) PUBMED 19050727 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK301730.1 and AC245052.3. On Sep 1, 2016 this sequence version replaced XP_005278335.1. ##Evidence-Data-START## Transcript exon combination :: AK301730.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2149004, SAMEA2154529 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..279 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.42" Protein 1..279 /product="T-cell-interacting, activating receptor on myeloid cells protein 1 isoform 2" /note="OSCAR-like transcript-2 protein" /calculated_mol_wt=30533 Region 35..128 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:299845" Region 43..106 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" Region 132..227 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:299845" CDS 1..279 /gene="TARM1" /gene_synonym="OLT-2" /coded_by="NM_001330650.1:271..1110" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS82395.1" /db_xref="GeneID:441864" /db_xref="HGNC:HGNC:37250" /db_xref="MIM:616802" ORIGIN 1 mkerkkkerk erkrkkerng lcvgqgdtrg dgslpkpsls awpssvvpan snvtlrcwtp 61 argvsfvlrk ggiilespkp ldstegaaef hlnnlkvrna geytceyyrk asphilsqhs 121 dvllllvtgh lskpflrtyq rgtvtaggrv tlqcqkrdql fvpimfallk agtpspiqlq 181 spagkeidfs lvdvtagdag nyscmyyqtk spfwasepsd qleilvtvpp gttssnyslg 241 nfvrlglaav ivvimgaflv eawysrnvsp geseafkpe // LOCUS NP_001094101 479 aa linear PRI 02-JUL-2020 DEFINITION PRAME family member 22 [Homo sapiens]. ACCESSION NP_001094101 XP_005276178 XP_006726391 XP_933471 VERSION NP_001094101.2 DBSOURCE REFSEQ: accession NM_001100631.2 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 479) AUTHORS Birtle Z, Goodstadt L and Ponting C. TITLE Duplication and positive selection among hominin-specific PRAME genes JOURNAL BMC Genomics 6, 120 (2005) PUBMED 16159394 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 AC256219.1 and AC245056.3. On or before Oct 27, 2017 this sequence version replaced XP_016885813.1, NP_001094101.1. 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..479 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.21" Protein 1..479 /product="PRAME family member 22" /calculated_mol_wt=55247 CDS 1..479 /gene="PRAMEF22" /gene_synonym="PRAMEF3L" /coded_by="NM_001100631.2:7..1446" /db_xref="GeneID:653606" /db_xref="HGNC:HGNC:34393" ORIGIN 1 msfqaprrll elagqsllrd qalaisvlde lprelfpplf veaftsrrce vlkvmvqawp 61 fpclplgslm ktpdleilhy vvdgidclla qkvrprrwkl qvlemrdvde nfwtiwsgar 121 plscspeams krqtvedcpr tgekqplkvf mdvclkekfm dedlsffsgw vqhrrgsvhl 181 cctkvvnysm silnfrnile tvypdsiqvl eiwnmcwlcm ivefsrylsq mrnlrklfis 241 dgcryllssd sqeqlvaefs svllrlenlq mlyvrrvcff rghldqlirc lrspletlal 301 tygfleeedl kclprypsls qlkqlnlshg alrfirlepl rallekvaat lqtlflvdcg 361 igysklrvil palsrcsnlt tfcfhgndts mdalkdllrh tgrlsnlsle typapresld 421 nrgrvilell tplqaelmri lrevrepkri ffgpvscpcc gtspteqlef nfclwgrpa // LOCUS NP_001316995 124 aa linear PRI 02-JUL-2020 DEFINITION TP53-target gene 3 protein [Homo sapiens]. ACCESSION NP_001316995 XP_016879448 VERSION NP_001316995.1 DBSOURCE REFSEQ: accession NM_001330066.1 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 124) AUTHORS Ng CC, Koyama K, Okamura S, Kondoh H, Takei Y and Nakamura Y. TITLE Isolation and characterization of a novel TP53-inducible gene, TP53TG3 JOURNAL Genes Chromosomes Cancer 26 (4), 329-335 (1999) PUBMED 10534768 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC136944.3. On Aug 16, 2016 this sequence version replaced XP_016879448.1. 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 :: SRR5189667.52603.1, SRR5189667.48426.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on computational evidence ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..124 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p11.2" Protein 1..124 /product="TP53-target gene 3 protein" /note="TP53-inducible gene 3 protein" /calculated_mol_wt=12697 CDS 1..124 /gene="TP53TG3F" /gene_synonym="TP53TG3; TP53TG3B; TP53TG3C; TP53TG3D; TP53TG3E" /coded_by="NM_001330066.1:13..387" /db_xref="CCDS:CCDS81976.1" /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 sfsg // LOCUS NP_001340727 404 aa linear PRI 02-JUL-2020 DEFINITION zinc finger protein 846 isoform 2 [Homo sapiens]. ACCESSION NP_001340727 XP_016881894 VERSION NP_001340727.1 DBSOURCE REFSEQ: accession NM_001353798.1 KEYWORDS RefSeq. SOURCE Homo 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 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 AC008752.6, AK097652.1 and BC118657.1. On Jul 25, 2017 this sequence version replaced XP_016881894.1. ##Evidence-Data-START## Transcript exon combination :: BC118657.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..404 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.2" Protein 1..404 /product="zinc finger protein 846 isoform 2" /calculated_mol_wt=45708 Region 2..367 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 71..91 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(71,74,87,91) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 99..119 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(99,102,115,119) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 127..147 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(127,130,143,147) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 155..175 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(155,158,171,175) /site_type="other" /note="Zn binding site [ion binding]" /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" Site order(211,214,227,231) /site_type="other" /note="Zn binding site [ion binding]" /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" Site order(244,246,248,250..251,254..255,258,272,274,278..279, 282..283,286,300,302,304,306..307,310..311,314) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 267..287 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(267,270,283,287) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 295..315 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(295,298,311,315) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 323..343 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(323,326,339,343) /site_type="other" /note="Zn binding site [ion 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..398 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" CDS 1..404 /gene="ZNF846" /coded_by="NM_001353798.1:840..2054" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:162993" /db_xref="HGNC:HGNC:27260" ORIGIN 1 mthmithige ktsednqsgk alrknfphsf ykkshaegkm pkcvkhekaf nqfpnltrqn 61 kthtqeklce ckdcwrtfln qsslklhirs hngdkhyvck ecgkafsnss hlighgrihs 121 gekpyvckec gkaftqstgl klhirthsge kpykckecgk afthssyltd htrihsgkkp 181 yvcmecgkaf trstglilhm rihtgekpye ckecgkafih ssyltkhvri hsgeklylck 241 acgkaftrss glvlhmrtht gekpyeckec gkafnnssml sqhvrihtge kpyeckecgk 301 aftqssglst hlrthtgeka ceckecgkaf arstnlnmhm rthtgekpya ckecgkafry 361 stylnvhtrt htgakpyeck kcgknftqss alakhlrtka cekt // LOCUS NP_853646 56 aa linear PRI 02-JUL-2020 DEFINITION keratin-associated protein 20-1 [Homo sapiens]. ACCESSION NP_853646 VERSION NP_853646.1 DBSOURCE REFSEQ: accession NM_181615.2 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 56) 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 :: AB096955.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000334664.3/ ENSP00000335503.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..56 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21q22.11" Protein 1..56 /product="keratin-associated protein 20-1" /calculated_mol_wt=6071 CDS 1..56 /gene="KRTAP20-1" /gene_synonym="KAP20.1" /coded_by="NM_181615.2:31..201" /db_xref="CCDS:CCDS13603.1" /db_xref="GeneID:337975" /db_xref="HGNC:HGNC:18943" ORIGIN 1 miyysnyygg ygygglgcgy gcgyrgygcg yggyggygng yycpscygry wsygfy // LOCUS NP_001340728 532 aa linear PRI 02-JUL-2020 DEFINITION zinc finger protein 846 isoform 3 [Homo sapiens]. ACCESSION NP_001340728 XP_005259830 VERSION NP_001340728.1 DBSOURCE REFSEQ: accession NM_001353799.1 KEYWORDS RefSeq. SOURCE Homo 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 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 AC008752.6. On Jul 25, 2017 this sequence version replaced XP_005259830.1. 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 :: SRR1163657.490280.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..532 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.2" Protein 1..532 /product="zinc finger protein 846 isoform 3" /calculated_mol_wt=60350 Region 8..66 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 105..495 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 119..135 /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" Site order(199,202,215,219) /site_type="other" /note="Zn binding site [ion 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..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" Region 283..303 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(283,286,299,303) /site_type="other" /note="Zn binding site [ion binding]" /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" Site order(311,314,327,331) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 339..359 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(339,342,355,359) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 367..387 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(367,370,383,387) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(372,374,376,378..379,382..383,386,400,402,406..407, 410..411,414,428,430,432,434..435,438..439,442) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 395..415 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(395,398,411,415) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 423..443 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(423,426,439,443) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 451..471 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(451,454,467,471) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 479..499 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(479,482,495,499) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 507..526 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" CDS 1..532 /gene="ZNF846" /coded_by="NM_001353799.1:536..2134" /note="isoform 3 is encoded by transcript variant 3" /db_xref="GeneID:162993" /db_xref="HGNC:HGNC:27260" ORIGIN 1 mdssqhlvtf edvavdftqe ewtlldqaqr dlyrdvmlen yknliilgse lfkrslmsgl 61 eqmeelrtgv tgvlqeldlq lktkgspllq disaerspng vqlersntae klydsnhsgk 121 vfnehpflmt hmithigekt sednqsgkal rknfphsfyk kshaegkmpk cvkhekafnq 181 fpnltrqnkt htqeklceck dcwrtflnqs slklhirshn gdkhyvckec gkafsnsshl 241 ighgrihsge kpyvckecgk aftqstglkl hirthsgekp ykckecgkaf thssyltdht 301 rihsgkkpyv cmecgkaftr stglilhmri htgekpyeck ecgkafihss yltkhvrihs 361 geklylckac gkaftrssgl vlhmrthtge kpyeckecgk afnnssmlsq hvrihtgekp 421 yeckecgkaf tqssglsthl rthtgekace ckecgkafar stnlnmhmrt htgekpyack 481 ecgkafryst ylnvhtrtht gakpyeckkc gknftqssal akhlrtkace kt // LOCUS NP_853650 79 aa linear PRI 02-JUL-2020 DEFINITION keratin-associated protein 21-1 [Homo sapiens]. ACCESSION NP_853650 VERSION NP_853650.1 DBSOURCE REFSEQ: accession NM_181619.2 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 79) 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 BC105031.1 and AB096960.1. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000335093.5/ ENSP00000335566.3 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="21" /map="21q22.11" Protein 1..79 /product="keratin-associated protein 21-1" /calculated_mol_wt=7806 CDS 1..79 /gene="KRTAP21-1" /gene_synonym="KAP21.1" /coded_by="NM_181619.2:51..290" /db_xref="CCDS:CCDS13606.1" /db_xref="GeneID:337977" /db_xref="HGNC:HGNC:18945" ORIGIN 1 mccnyygnsc gygsgcgcgy gsgsgcgcgy gtgygcgygc gfgshygcgy gtgygcgygs 61 gsgycgyrpf cfrrcyssc // LOCUS NP_001335153 316 aa linear PRI 02-JUL-2020 DEFINITION olfactory receptor 51J1 [Homo sapiens]. ACCESSION NP_001335153 VERSION NP_001335153.1 DBSOURCE REFSEQ: accession NM_001348224.1 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 316) 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 316) AUTHORS Nagase T, Yamakawa H, Tadokoro S, Nakajima D, Inoue S, Yamaguchi K, Itokawa Y, Kikuno RF, Koga H and Ohara O. TITLE Exploration of human ORFeome: high-throughput preparation of ORF clones and efficient characterization of their protein products JOURNAL DNA Res. 15 (3), 137-149 (2008) PUBMED 18316326 REFERENCE 3 (residues 1 to 316) AUTHORS Bulger M, Bender MA, van Doorninck JH, Wertman B, Farrell CM, Felsenfeld G, Groudine M and Hardison R. TITLE Comparative structural and functional analysis of the olfactory receptor genes flanking the human and mouse beta-globin gene clusters JOURNAL Proc. Natl. Acad. Sci. U.S.A. 97 (26), 14560-14565 (2000) PUBMED 11121057 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC104389.8. 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. 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, 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. This gene is a segregating pseudogene. This RefSeq represents the protein encoded by the reference genome allele. ##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..316 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11p15.4" Protein 1..316 /product="olfactory receptor 51J1" /note="olfactory receptor, family 51, subfamily J, member 2; olfactory receptor, family 51, subfamily J, member 1 pseudogene; olfactory receptor 51J2; odorant receptor HOR5'beta8" /calculated_mol_wt=34707 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H342.2)" Site 32..52 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H342.2)" Region 34..312 /region_name="7tm_4" /note="Olfactory receptor; pfam13853" /db_xref="CDD:290564" Site 64..84 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H342.2)" Site 105..125 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H342.2)" Site 162..182 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H342.2)" Site 192..212 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H342.2)" Site 243..263 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H342.2)" Site 276..296 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H342.2)" CDS 1..316 /gene="OR51J1" /gene_synonym="HOR5'Beta8; OR51J1P; OR51J2" /coded_by="NM_001348224.1:201..1151" /db_xref="GeneID:79470" /db_xref="HGNC:HGNC:14856" ORIGIN 1 mkisnnslgf lpttfilvgi pglesehlwi svpfsliyii iflgngiilh virtdialhq 61 pmylflamla laevrvsast lptvlgiflf gnteisleac lfpdvlhpff ihdgascaag 121 hvfgplyshl qptelhsypd taqglwhrsy yrtekhyahg svahslmasa llwpqcpltf 181 llsapqsyls cgnisvnniy gifivtstfg ldsllivisy glilhtvlgi atgegrkkal 241 ntcgshvcav layyvpmigl sivhrlghrv spllqamman aylffppvvn pivysiktke 301 ihgaivrmll ekrrrv // LOCUS NP_444508 342 aa linear PRI 02-JUL-2020 DEFINITION trace amine-associated receptor 8 [Homo sapiens]. ACCESSION NP_444508 VERSION NP_444508.1 DBSOURCE REFSEQ: accession NM_053278.2 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 342) AUTHORS Muhlhaus J, Dinter J, Nurnberg D, Rehders M, Depke M, Golchert J, Homuth G, Yi CX, Morin S, Kohrle J, Brix K, Tschop M, Kleinau G and Biebermann H. TITLE Analysis of human TAAR8 and murine Taar8b mediated signaling pathways and expression profile JOURNAL Int J Mol Sci 15 (11), 20638-20655 (2014) PUBMED 25391046 REMARK GeneRIF: For the first time is confirmed basal Gi/o signaling activity for TAAR8. Publication Status: Online-Only REFERENCE 2 (residues 1 to 342) AUTHORS Liberles SD and Buck LB. TITLE A second class of chemosensory receptors in the olfactory epithelium JOURNAL Nature 442 (7103), 645-650 (2006) PUBMED 16878137 REMARK GeneRIF: Previous studies reported TAAR expression in brain. This paper found TAAR expression only in olfactory epithelial cells and that each TAAR detects a unique set of amine ligands. TAARs seem to function as a family of chemosensory receptors for amines. REFERENCE 3 (residues 1 to 342) AUTHORS Lewin AH. TITLE Receptors of mammalian trace amines JOURNAL AAPS J 8 (1), E138-E145 (2006) PUBMED 16584120 REMARK Review article Publication Status: Online-Only REFERENCE 4 (residues 1 to 342) AUTHORS Lindemann L, Ebeling M, Kratochwil NA, Bunzow JR, Grandy DK and Hoener MC. TITLE Trace amine-associated receptors form structurally and functionally distinct subfamilies of novel G protein-coupled receptors JOURNAL Genomics 85 (3), 372-385 (2005) PUBMED 15718104 REFERENCE 5 (residues 1 to 342) AUTHORS Lee DK, Nguyen T, Lynch KR, Cheng R, Vanti WB, Arkhitko O, Lewis T, Evans JF, George SR and O'Dowd BF. TITLE Discovery and mapping of ten novel G protein-coupled receptor genes JOURNAL Gene 275 (1), 83-91 (2001) PUBMED 11574155 REFERENCE 6 (residues 1 to 342) AUTHORS Borowsky B, Adham N, Jones KA, Raddatz R, Artymyshyn R, Ogozalek KL, Durkin MM, Lakhlani PP, Bonini JA, Pathirana S, Boyle N, Pu X, Kouranova E, Lichtblau H, Ochoa FY, Branchek TA and Gerald C. TITLE Trace amines: identification of a family of mammalian G protein-coupled receptors JOURNAL Proc. Natl. Acad. Sci. U.S.A. 98 (16), 8966-8971 (2001) PUBMED 11459929 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CO920489.1 and CO920393.1. Summary: This gene is part of the trace amine receptor cluster on chromosome 6 and encodes an orphan G-protein coupled receptor. Upregulated expression of this gene in astroglial cells upon exposure to lipopolysaccharides suggests a function for the encoded protein in the brain. [provided by RefSeq, Jul 2016]. ##RefSeq-Attributes-START## 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="6" /map="6q23.2" Protein 1..342 /product="trace amine-associated receptor 8" /note="trace amine receptor 5; trace amine receptor 8; G-protein coupled receptor 102" /calculated_mol_wt=37898 Site 4 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q969N4.1)" Site 18 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q969N4.1)" Site 32..52 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q969N4.1)" Region 48..310 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 68..88 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q969N4.1)" Site 112..132 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q969N4.1)" Site 147..167 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q969N4.1)" Site 196..216 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q969N4.1)" Site 259..279 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q969N4.1)" Site 281..301 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q969N4.1)" CDS 1..342 /gene="TAAR8" /gene_synonym="GPR102; TA5; TaR-5; TaR-8; TAR5; TRAR5" /coded_by="NM_053278.2:10..1038" /db_xref="CCDS:CCDS5154.1" /db_xref="GeneID:83551" /db_xref="HGNC:HGNC:14964" /db_xref="MIM:606927" ORIGIN 1 mtsnfsqpvv qlcyedvngs cietpyspgs rvilytafsf gsllavfgnl lvmtsvlhfk 61 qlhsptnfli aslacadflv gvtvmlfsmv rtvescwyfg akfctlhscc dvafcyssvl 121 hlcficidry ivvtdplvya tkftvsvsgi cisvswilpl tysgavfytg vnddgleelv 181 salncvggcq iivsqgwvli dfllffiptl vmiilyskif liakqqaiki ettsskvess 241 sesykirvak rerkaaktlg vtvlafvisw lpytvdilid afmgfltpay iyeiccwsay 301 ynsamnpliy alfypwfrka iklilsgdvl kassstislf le // LOCUS NP_001333840 379 aa linear PRI 02-JUL-2020 DEFINITION cyclin-dependent kinase-like 4 isoform 1 [Homo sapiens]. ACCESSION NP_001333840 VERSION NP_001333840.1 DBSOURCE REFSEQ: accession NM_001346911.1 KEYWORDS RefSeq. SOURCE Homo 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 Russo S, Marchi M, Cogliati F, Bonati MT, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B and Larizza L. TITLE Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes JOURNAL Neurogenetics 10 (3), 241-250 (2009) PUBMED 19241098 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 AC079615.6 and AY847283.1. Transcript Variant: This variant (1) encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: AY847283.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..379 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2p22.1" Protein 1..379 /product="cyclin-dependent kinase-like 4 isoform 1" /EC_number="2.7.11.22" /calculated_mol_wt=43253 Region 45..51 /region_name="[NKR]KIAxRE" /note="propagated from UniProtKB/Swiss-Prot (Q5MAI5.2)" CDS 1..379 /gene="CDKL4" /coded_by="NM_001346911.1:57..1196" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS86834.1" /db_xref="GeneID:344387" /db_xref="HGNC:HGNC:19287" ORIGIN 1 mekyeklakt gegsygvvfk crnktsgqvv avkkfvesed dpvvkkialr eirmlkqlkh 61 pnlvnlievf rrkrkmhlvf eycdhtllne lernpngvad gviksvlwqt lqalnfchih 121 ncihrdikpe nilitkqgii kicdfgfaqi lipgdaytdy vatrwyrape llvgdtqygs 181 svdiwaigcv faelltgqpl wpgksdvdql yliirtlgkl iprhqsifks ngffhgisip 241 epedmetlee kfsdvhpval nfmkgclkmn pddrltcsql lessyfdsfq eaqikrkarn 301 egrnrrrqqq apksafprlf lktkicqvqr netqtsgnqi lpngpilqns mvtvmtnins 361 avyqvtvlhl lsenfevks // LOCUS NP_001338233 574 aa linear PRI 02-JUL-2020 DEFINITION inactive glutathione hydrolase 2 precursor [Homo sapiens]. ACCESSION NP_001338233 XP_016855426 VERSION NP_001338233.1 DBSOURCE REFSEQ: accession NM_001351304.1 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 574) AUTHORS Ucar H, Gur M, Gozukara MY, Kalkan GY, Baykan AO, Turkoglu C, Kaypakl O, Seker T, Sen O, Selek S and Cayl M. TITLE Gamma glutamyl transferase activity is independently associated with oxidative stress rather than SYNTAX score JOURNAL Scand. J. Clin. Lab. Invest. 75 (1), 7-12 (2015) PUBMED 25180444 REMARK GeneRIF: In stable coronary artery disease, increased GGT activity within the normal range is associated with increased oxidative stress. REFERENCE 2 (residues 1 to 574) AUTHORS Fukuda T, Hamaguchi M, Kojima T, Ohshima Y, Ohbora A, Kato T, Nakamura N and Fukui M. TITLE Association between serum gamma-glutamyltranspeptidase and atherosclerosis: a population-based cross-sectional study JOURNAL BMJ Open 4 (10), e005413 (2014) PUBMED 25280803 REMARK GeneRIF: The serum GGT level was associated with brachial-ankle pulse wave velocity, a marker of peripheral atherosclerosis, independently of covariates including fatty liver or menopausal state just in women, but not in men. Publication Status: Online-Only REFERENCE 3 (residues 1 to 574) AUTHORS West MB, Wickham S, Parks EE, Sherry DM and Hanigan MH. TITLE Human GGT2 does not autocleave into a functional enzyme: A cautionary tale for interpretation of microarray data on redox signaling JOURNAL Antioxid. Redox Signal. 19 (16), 1877-1888 (2013) PUBMED 23682772 REMARK GeneRIF: hGGT2 does not encode a functional enzyme; microarray data which have reported induction of hGGT2 mRNA should not be interpreted as induction of a protein that has a role in the metabolism of extracellular glutathione and in maintaining the redox status REFERENCE 4 (residues 1 to 574) AUTHORS Franzini M, Fornaciari I, Vico T, Moncini M, Cellesi V, Meini M, Emdin M and Paolicchi A. TITLE High-sensitivity gamma-glutamyltransferase fraction pattern in alcohol addicts and abstainers JOURNAL Drug Alcohol Depend 127 (1-3), 239-242 (2013) PUBMED 22749559 REMARK GeneRIF: Fraction pattern analysis might increase the specificity of GGT as biomarker of alcohol abuse, especially in the context of differential diagnosis between alcoholism and non-alcoholic liver disease. REFERENCE 5 (residues 1 to 574) AUTHORS Kim KM, Kim BT, Lee DJ, Park SB, Joo NS and Kim KN. TITLE Serum gamma-glutamyltransferase as a risk factor for general cardiovascular disease prediction in Koreans JOURNAL J. Investig. Med. 60 (8), 1199-1203 (2012) PUBMED 23138005 REMARK GeneRIF: In a Korean population, increased GGT serum concentration is associated with increased cardiovascular disease risk. REFERENCE 6 (residues 1 to 574) AUTHORS Lee DH, Steffes MW and Jacobs DR Jr. TITLE Can persistent organic pollutants explain the association between serum gamma-glutamyltransferase and type 2 diabetes? JOURNAL Diabetologia 51 (3), 402-407 (2008) PUBMED 18071669 REMARK GeneRIF: Survey show relationships similar to those observed for GGT, including a powerful association with prevalent type 2 diabetes and organic pollutants. REFERENCE 7 (residues 1 to 574) AUTHORS Komissarova EV, Li P, Uddin AN, Chen X, Nadas A and Rossman TG. TITLE Gene expression levels in normal human lymphoblasts with variable sensitivities to arsenite: identification of GGT1 and NFKBIE expression levels as possible biomarkers of susceptibility JOURNAL Toxicol. Appl. Pharmacol. 226 (2), 199-205 (2008) PUBMED 17976673 REMARK GeneRIF: Expression levels of GGT1 and possibly NFKBIE might be useful as biomarkers of genetic susceptibility to arsenite. REFERENCE 8 (residues 1 to 574) 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 574) AUTHORS Figlewicz DA, Delattre O, Guellaen G, Krizus A, Thomas G, Zucman J and Rouleau GA. TITLE Mapping of human gamma-glutamyl transpeptidase genes on chromosome 22 and other human autosomes JOURNAL Genomics 17 (2), 299-305 (1993) PUBMED 8104871 REFERENCE 10 (residues 1 to 574) AUTHORS Pawlak A, Wu SJ, Bulle F, Suzuki A, Chikhi N, Ferry N, Baik JH, Siegrist S and Guellaen G. TITLE Different gamma-glutamyl transpeptidase mRNAs are expressed in human liver and kidney JOURNAL Biochem. Biophys. Res. Commun. 164 (2), 912-918 (1989) PUBMED 2573352 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AP000552.1 and AP000550.1. On May 5, 2017 this sequence version replaced XP_016855426.1. Summary: GGT2 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, 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## RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..574 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="22" /map="22q11.21" Protein 1..574 /product="inactive glutathione hydrolase 2 precursor" /EC_number="2.3.2.2" /EC_number="3.4.19.13" /note="gamma-glutamyltranspeptidase 2; glutathione hydrolase 2; inactive gamma-glutamyltranspeptidase 2; inactive glutathione hydrolase 2" /calculated_mol_wt=59035 sig_peptide 1..30 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P36268.3)" /calculated_mol_wt=3176 Region 56..569 /region_name="G_glu_transpept" /note="Gamma-glutamyltranspeptidase; pfam01019" /db_xref="CDD:307247" Site 235 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P36268.3)" Region 456..457 /region_name="Glutamate binding. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (P36268.3)" Site 516 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:19159218; propagated from UniProtKB/Swiss-Prot (P36268.3)" CDS 1..574 /gene="GGT2" /gene_synonym="GGT; GGT 2" /coded_by="NM_001351304.1:694..2418" /db_xref="GeneID:728441" /db_xref="HGNC:HGNC:4251" /db_xref="MIM:137181" ORIGIN 1 mkkklvvlgl lavvlvlviv glclwlpsas kepdnhvytr aamaadakqc leigrdtlrd 61 ggsavdaaia allcvglmna hsmgigvglf ltiynstthe sevinareva prlafasmfn 121 sseqsqkggl svavpgeirg yelahqrhgr lpwarlfqps iqlarqgfpv gkglaavlen 181 krtvieqqpv lcplcpgevf crdrkvlreg erltlprlad tyemlaiega qafyngslma 241 qivkdiqaag givtaedlnn yraeliehpl nislgdavly mpsarlsgpv lalilnilkg 301 ynfsresvet peqkgltyhr iveafrfaya krtllgdpkf vdvtevvrnm tseffaaqlr 361 sqisdhtthp isyykpefyt pddggtahls vvaedgsavs atstinlyfg skvcspvsgi 421 lfnnewttsa lpaftnefga ppspanfiqp gkqpllsmcl timvgqdgqv rmvvgaaggt 481 qittdtalai iynlwfgydv kraveeprlh nkllpnvttv ernidqavta aletrhhhtq 541 iastfiavvq aivrtaggwa aasdsrkgge pagy // LOCUS NP_001338526 312 aa linear PRI 02-JUL-2020 DEFINITION putative speedy protein E16 [Homo sapiens]. ACCESSION NP_001338526 XP_006716274 VERSION NP_001338526.1 DBSOURCE REFSEQ: accession NM_001351597.1 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 312) 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 AC004980.5. On May 16, 2017 this sequence version replaced XP_006716274.1. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..312 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q11.23" Protein 1..312 /product="putative speedy protein E16" /note="WBSCR19-like protein 5-like" /calculated_mol_wt=37368 Region 154..308 /region_name="Spy1" /note="Cell cycle regulatory protein; pfam11357" /db_xref="CDD:314328" CDS 1..312 /gene="SPDYE16" /coded_by="NM_001351597.1:1..939" /db_xref="CCDS:CCDS87513.1" /db_xref="GeneID:102723555" /db_xref="HGNC:HGNC:51512" ORIGIN 1 mqkhytvawf lysapgvdps ppcrslgwkr kkewsdesee epekelapep eetwvvemlc 61 glkmklkqqr vspilpehhk dfnsqlapgv dpspphrsfc wkrkrewwde seesleeepr 121 kvlapepeei wvvemlcglk mklkrrrvsl vlpehheafn rlledpvikr flawdkdlrv 181 sdkyllamvi ayfsraglps wqyqrihffl alylandmee ddedpkqnif yflygktrsr 241 iplvrnrrfq lcrcmnprar knrsqialfq klrfqffcsm sgrawvsree leeiqaydpe 301 hwvwardrar ls // LOCUS NP_001244291 584 aa linear PRI 02-JUL-2020 DEFINITION uncharacterized protein LOC100288966 [Homo sapiens]. ACCESSION NP_001244291 XP_002343914 VERSION NP_001244291.1 DBSOURCE REFSEQ: accession NM_001257362.2 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 584) 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 AY172978.1 and BC146605.1. On Apr 4, 2012 this sequence version replaced XP_002343914.1. ##Evidence-Data-START## Transcript exon combination :: AY172978.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093, SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..584 /organism="Homo sapiens" /db_xref="taxon:9606" Protein 1..584 /product="uncharacterized protein LOC100288966" /note="POTE ankyrin domain family member D; ANKRD26-like family B member 3; Ankyrin repeat domain-containing protein 21; Prostate, ovary, testis-expressed protein; Protein POTE" /calculated_mol_wt=66247 Region 143..193 /region_name="Ank_4" /note="Ankyrin repeats (many copies); pfam13637" /db_xref="CDD:290365" Region 167..292 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Site order(174,178..179,182..184,186..187,191,194,203,205,207, 211..212,215..217,219..220,224,227,236,238,240,244..245, 248..250,252..253,257,260,269) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 174..203 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 177..269 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 205..236 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 233..357 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 238..269 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 243..335 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" 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 <440..556 /region_name="SH3_and_anchor" /note="SH3 domain protein; TIGR04211" /db_xref="CDD:275056" CDS 1..584 /gene="LOC100288966" /gene_synonym="A26B3; ANKRD21; POTE; POTED" /coded_by="NM_001257362.2:53..1807" /db_xref="GeneID:100288966" ORIGIN 1 mvaevcsmpt astvkkpfdl rskmgkwchh rfpccrgsgk snmgtsgdhd dsfmkmlrsk 61 mgkccrhcfp ccrgsgtsnv gtsgdhensf mkmlrskmgk wcchcfpccr gssksnvgaw 121 gdydhsafme pryhvrredl dklhraawwg kvprkdlivm lrdtdmnkrd kekrtalhla 181 sangnsevvq llldrrcqln vldnkkrtal ikaiqcqede cvlmllehga drnipdeygn 241 talhyaiyne dklmakalll ygadiesknk cgltplllgv heqkqqvvkf likkkanlnv 301 ldrygrtali lavccgsasi vnllleqnvd vssqdlsgqt areyavsshh hvicellsdy 361 kekqmlkiss ensnpeqdlk ltseeesqrl kvsensqpek msqepeinkd cdreveeeik 421 khgsnpvglp enltngasag ngddglipqr rsrkpenqqf pdteneeyhs deqndtrkql 481 seeqntgisq deiltnkqkq ievaeqkmns elslshkkee dllrensvlq eeiavlrlel 541 detkhqnqlr enkileeies vkektdkllr amqlneealt ktni // LOCUS NP_963840 449 aa linear PRI 02-JUL-2020 DEFINITION CUB domain-containing protein 2 isoform 2 precursor [Homo sapiens]. ACCESSION NP_963840 XP_114089 XP_291461 VERSION NP_963840.2 DBSOURCE REFSEQ: accession NM_201546.4 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 449) AUTHORS Li YJ, Deng J, Mayhew GM, Grimsley JW, Huo X and Vance JM. TITLE Investigation of the PARK10 gene in Parkinson disease JOURNAL Ann. Hum. Genet. 71 (Pt 5), 639-647 (2007) PUBMED 17388942 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 AL357673.12. On Aug 12, 2005 this sequence version replaced NP_963840.1. 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/partial sample support SAMEA1968189, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..449 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p32.3" Protein 1..449 /product="CUB domain-containing protein 2 isoform 2 precursor" /calculated_mol_wt=46560 sig_peptide 1..22 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2211 Region 30..141 /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(38,40,42,69,74,113,137,139,141) /site_type="other" /note="heterodimerization interface [polypeptide binding]" /db_xref="CDD:238001" Site 40 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5VXM1.1)" Region 145..254 /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(153,155,157,184,189,225,249,251,253..254) /site_type="other" /note="heterodimerization interface [polypeptide binding]" /db_xref="CDD:238001" Region 257..370 /region_name="CUB" /note="CUB domain; pfam00431" /db_xref="CDD:278839" Site 267 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5VXM1.1)" CDS 1..449 /gene="CDCP2" /coded_by="NM_201546.4:171..1520" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS588.2" /db_xref="GeneID:200008" /db_xref="HGNC:HGNC:27297" /db_xref="MIM:612320" ORIGIN 1 mlaewgacll lavallgpgl qaqamegvkc ggvlsapsgn fsspnfprly pyntecswli 61 vvaegssvll tfhafdleyh dtcsfdflei yngaspdkgn llgrfcgkvp pppftsswhv 121 msvifhsdkh vashgfsagy qkdvcggvlt glsgvltspe ypnnypnsme chwviraagp 181 ahvklvfvdf qvegneecty dyvavlggpg ptrghhycgs trpptlvslg helqvvfksd 241 fniggrgfka yyfsgecqev ymamrgnfss pqypssypnn irchwtirlp pgyqvkvffl 301 dldleepnsl tktcdfdhla afdgaseeap llgnwcghhl pppvtsshnq lllllhtdrs 361 ttrrgfsvay iggqlgcgsg stegegealq pqslqspssi ppvcpappmn gllqlllhwl 421 hpcplsgplr ldgtapacfh ycrasfpsf // LOCUS NP_001342390 69 aa linear PRI 02-JUL-2020 DEFINITION zinc finger protein 806 isoform 2 [Homo sapiens]. ACCESSION NP_001342390 VERSION NP_001342390.1 DBSOURCE REFSEQ: accession NM_001355461.1 KEYWORDS RefSeq. SOURCE Homo 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 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 AC097532.3. 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 :: SRR1803616.173125.1, SRR1660809.241808.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..69 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q21.2" Protein 1..69 /product="zinc finger protein 806 isoform 2" /calculated_mol_wt=7727 Region 8..48 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:307490" CDS 1..69 /gene="ZNF806" /coded_by="NM_001355461.1:167..376" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:646915" /db_xref="HGNC:HGNC:33228" ORIGIN 1 mikfqervtf kdiaviftke elavldkaqi nlyqdvmlen frnfisvgsc svtqvagvqw 61 pdhgsllkp // LOCUS NP_001345618 444 aa linear PRI 02-JUL-2020 DEFINITION tubulin beta 8B [Homo sapiens]. ACCESSION NP_001345618 VERSION NP_001345618.1 DBSOURCE REFSEQ: accession NM_001358689.1 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 444) AUTHORS van Geel M, Eichler EE, Beck AF, Shan Z, Haaf T, van der Maarel SM, Frants RR and de Jong PJ. TITLE A cascade of complex subtelomeric duplications during the evolution of the hominoid and Old World monkey genomes JOURNAL Am. J. Hum. Genet. 70 (1), 269-278 (2002) PUBMED 11731935 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AP001005.6. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA2148874, SAMEA2151119 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..444 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="18" /map="18p11.32" Protein 1..444 /product="tubulin beta 8B" /note="HSA18p11 beta-tubulin 4Q pseudogene; tubulin beta 8 pseudogene 12; Tubulin beta-8 chain-like protein LOC260334" /calculated_mol_wt=49442 Region 1..427 /region_name="PLN00220" /note="tubulin beta chain; Provisional" /db_xref="CDD:215107" Site 172 /site_type="phosphorylation" /note="Phosphoserine, by CDK1. /evidence=ECO:0000269|PubMed:16371510; propagated from UniProtKB/Swiss-Prot (A6NNZ2.1)" CDS 1..444 /gene="TUBB8B" /gene_synonym="TUBB8P12" /coded_by="NM_001358689.1:1..1335" /db_xref="CCDS:CCDS86657.1" /db_xref="GeneID:260334" /db_xref="HGNC:HGNC:24983" ORIGIN 1 mreivltqtg qcgnqigakf wevisdehai dsagtyhgds hlqlerinvh hheasggryv 61 pravlvdlep gtmdsvhsgp fgqvfrpdnf isgqcgagnn wakgrytega eltesvmdvv 121 rkeaescdcl qgfqlthslg ggtgsgmgtl liskireeyp driintfsil pspkvsdtvv 181 epynatlsvh qlienadetf cidnealydi csrtlklptp tygdlnhlvs atmsgvttcl 241 rfpgqlnadl rklavnmvpf prlhffmpgf apltsrgsqq yraltvaelt qqmfdaknmm 301 aacdprhgcy ltvaaifrgr mpmrevdeqm fniqdknssy fadwfpdnvk tavcdipprg 361 lkmsatfign naaiqelftc vseqftamfr rkaflhwytg egmdemefte aesnmndlvs 421 eyqqyqdata eeeedeeyae eeva // LOCUS NP_001342206 272 aa linear PRI 03-JUL-2020 DEFINITION centromere protein V-like protein 1 [Homo sapiens]. ACCESSION NP_001342206 XP_001717503 XP_372214 XP_943277 VERSION NP_001342206.1 DBSOURCE REFSEQ: accession NM_001355277.1 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 272) 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 AC234030.3. 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. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000602548.2/ ENSP00000489273.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..272 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xp11.22" Protein 1..272 /product="centromere protein V-like protein 1" /note="proline rich 6-like 1" /calculated_mol_wt=29756 Region 133..>228 /region_name="COG3791" /note="Uncharacterized conserved protein [Function unknown]" /db_xref="CDD:226314" CDS 1..272 /gene="CENPVL1" /gene_synonym="CENPVP1; PRR6L1" /coded_by="NM_001355277.1:1..819" /db_xref="CCDS:CCDS87745.1" /db_xref="GeneID:389857" /db_xref="HGNC:HGNC:31851" ORIGIN 1 mgrvrnrata qrrrrkrpgd ppaacaaiav tgasraqcpr vqvgvgshaa akrwlgrwrr 61 krrwrrvrka gprdllpsap tpdppgpaps pkdldlgaqr erwetfrklr glscegaakv 121 lldtfeypgl vhhtggchcg avrfavwapa dlrvvdcscr lcrkkqhrhf lvpasrftll 181 qgaesivtyr snthpalhsf csrcgvqsfh aavsdprvyg vaphcldegt vrsvvieevg 241 ggdpgeeaae ehkaihktss qsapacpreq eq // LOCUS NP_001269440 369 aa linear PRI 03-JUL-2020 DEFINITION nuclear pore complex-interacting protein family member A8 [Homo sapiens]. ACCESSION NP_001269440 NP_001336877 NP_001336878 XP_005255796 VERSION NP_001269440.1 DBSOURCE REFSEQ: accession NM_001282511.2 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 369) AUTHORS Johnson ME, Viggiano L, Bailey JA, Abdul-Rauf M, Goodwin G, Rocchi M and Eichler EE. TITLE Positive selection of a gene family during the emergence of humans and African apes JOURNAL Nature 413 (6855), 514-519 (2001) PUBMED 11586358 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC126755.3. On or before Mar 23, 2018 this sequence version replaced NP_001336877.1, NP_001336878.1, XP_005255796.1. 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 NPIPA gene alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.359496.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968968 [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..369 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p12.3" Protein 1..369 /product="nuclear pore complex-interacting protein family member A8" /note="morpheus gene family member 9; Nuclear pore complex-interacting protein family member A7" /calculated_mol_wt=42099 Region 22..221 /region_name="NPIP" /note="Nuclear pore complex interacting protein (NPIP); pfam06409" /db_xref="CDD:310774" CDS 1..369 /gene="NPIPA8" /gene_synonym="LCR16a9; NPIPA7" /coded_by="NM_001282511.2:1080..2189" /db_xref="CCDS:CCDS61865.1" /db_xref="GeneID:101059953" /db_xref="HGNC:HGNC:41983" ORIGIN 1 mfcclgyewl sggcttwhsa wvintladhr hrgtdfggsp wlliitvflr sykfaislct 61 sylcvsflkt ifpsqnghdg stdvqqrarr snrrrqegik ivlediftlw rqvetkvrak 121 irkmkvttkv nrhdkingkr ktakehlrkl smkerehree erqvseaeen gkldmkeiht 181 ymemfqraqa lrrraedyyr ckitpsarkp lcnrvrmaav ehrhssglpy wpyltaetlk 241 nrmghqpppp tqqhsiidns lslktpsecv lyplppsadd nlktppecll tplppsalps 301 addnlktpae cllyplppsa ddnlktppec lltplppsap psaddnlktp pecvcslpfh 361 pqrmiisrn // LOCUS NP_001342126 573 aa linear PRI 03-JUL-2020 DEFINITION putative zinc finger protein 66 [Homo sapiens]. ACCESSION NP_001342126 VERSION NP_001342126.2 DBSOURCE REFSEQ: accession NM_001355197.2 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 573) 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 2 (residues 1 to 573) 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 AC010329.3. On May 24, 2018 this sequence version replaced NP_001342126.1. 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 :: SRR1660803.132995.1, HY040627.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000344519.10/ ENSP00000461425.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..573 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p12" Protein 1..573 /product="putative zinc finger protein 66" /calculated_mol_wt=65743 Region 4..64 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 147..167 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(147,150,163,167) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 176..195 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 199..569 /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" Site order(203,206,219,223) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 231..251 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(231,234,247,251) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 259..279 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(259,262,275,279) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(264,266,268,270..271,274..275,278,292,294,298..299, 302..303,306,320,322,324,326..327,330..331,334) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 287..307 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(287,290,303,307) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 315..335 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(315,318,331,335) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" 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" Site order(427,430,443,447) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 455..475 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(455,458,471,475) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 483..503 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(483,486,499,503) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 511..531 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(511,514,527,531) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 539..559 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(539,542,555,559) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..573 /gene="ZNF66" /gene_synonym="ZNF66P" /coded_by="NM_001355197.2:145..1866" /db_xref="GeneID:7617" /db_xref="HGNC:HGNC:13135" ORIGIN 1 mgplqfrdva iefsleewhc ldmaqrnlyr dvmlenyrnl vflgivvskp dlithleqgk 61 kpstmqrhem vanpsvlcsh fnqdlwpeqs ikdsfqklil rrhkkcghdn lqlkkgcesv 121 dkckvhkrgy nglnqclttt qskmfqcdkh gkvfhqfsnt nrhkirhtgk npckftecgk 181 afnrsstftt hkkihtgekp ykciecgkaf nrsshltthk iihtgekryk cedcgkafnr 241 ssnltthkki htgekpykce ecgkafkrss iltthkriht gekpykceec gkvfkylssl 301 sthkiihtge kpykceecgk afnwsshltt hkrihtgekp ykceecgkgf kysstltkhk 361 iihtgekpyk ceecgeafky scsltahkii htgkkpykce ecgkvfkhss plskhkriht 421 gekpykceec gkafsrssil tthkiihtge kpyecedcgk afnrssnltk hkkihtgekp 481 ykceecgkaf kcssiltthk rihtadkpyk ceecgkdfky sstltrhkki htggkphkcn 541 kcgkafisss nlsrheiihm ggnpykcenv akp // LOCUS NP_001229601 1079 aa linear PRI 03-JUL-2020 DEFINITION tetratricopeptide repeat protein 34 [Homo sapiens]. ACCESSION NP_001229601 XP_002342056 XP_003119859 XP_003120496 VERSION NP_001229601.2 DBSOURCE REFSEQ: accession NM_001242672.2 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 1079) 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 AL592464.24, AC242022.2 and AL831784.17. On Sep 19, 2018 this sequence version replaced NP_001229601.1. 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 coding region has been updated to extend the N-terminus to one that is more supported by available conservation data. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1079 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.32" Protein 1..1079 /product="tetratricopeptide repeat protein 34" /note="TPR repeat-containing protein ENSP00000383873; TPR repeat protein 34" /calculated_mol_wt=115577 Region 557..>925 /region_name="TPR_11" /note="TPR repeat; cl26002" /db_xref="CDD:330823" Region 689..720 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 725..753 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 803..>1069 /region_name="TPR_11" /note="TPR repeat; cl26002" /db_xref="CDD:330823" Region 818..848 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 853..881 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 887..910 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" CDS 1..1079 /gene="TTC34" /coded_by="NM_001242672.2:42..3281" /db_xref="CCDS:CCDS55565.1" /db_xref="GeneID:100287898" /db_xref="HGNC:HGNC:34297" ORIGIN 1 mmsaqelvac lcregeqhla lgelplataf ylaafschap salqsvrtal aqargaavva 61 tleswcrgds qipaihwdgm avvsltgsla saflgalcpd hpaailhlla gllargrhee 121 vvqrcsalld shaqqvlelr ltralawvls gvqaadgvaa ylqafassad rtvafirthq 181 rphlpallsa lqdylsghpe aghsagqqet ggqrllaald prgtrsdtls peallhsgrf 241 edclaacsra leahptgsep qgerraallv traasaffld graqdvfwnl qeafrespsg 301 arrqfqavfs vqdqervraq aqeaadvgfa rfqeavrnhp elredagrel lapvtralrv 361 llrlapagar palgarlaec lllagdaaga ramcerllrp arpedpagdr agdrapllal 421 rgfcalhagd srramedfqt vveqgaphpg gcvralcgrg llrvlagsaf lgtldyvtac 481 rlrpeealla akayvpwnqr glllvvlree argmlqrspr agpsraqgrr eaaetggptt 541 qegvacgvhq latllmelds edeasrllaa dalyrlgrle ethkallval srrpqaapvl 601 arlallqlrr gffydanqlv kklvqsgdta clqptldvfc hedrqllqgh charalailr 661 arpggadgrv htkeaiayls laifaagsqa sesllararc ygflgqkkta mfdfntvlra 721 epgnvqalcg ralvhlaldq lqeavddivs alklgpgtvv pelrslkpea qalitqglys 781 hcrallsqlp dtgapledkd tqgllavgea likidsgqph whllladilm aqgsyeeagt 841 hlekalhrap tseaararlg llqlkkgdvp gaardlqsla evdapdlscl lhlleaserq 901 slaqaaaqea gtlldagqpr qalgycslsv lasgssachl rlratclael qefgralrdl 961 dhvlqealgd gdlprraedf crqgrlllsl gdeaaaagaf aqalklapsl aqnslcrqpg 1021 raptarmfll rgqccleeqr haeawtaves gllvdpdhrg lkrlkarirr eassgcwlq // LOCUS NP_001276903 579 aa linear PRI 03-JUL-2020 DEFINITION putative beta-lactamase-like 1 [Homo sapiens]. ACCESSION NP_001276903 VERSION NP_001276903.1 DBSOURCE REFSEQ: accession NM_001289974.2 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 579) 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 AL035704.9. 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. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..579 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.12" Protein 1..579 /product="putative beta-lactamase-like 1" /calculated_mol_wt=63376 Region 87..411 /region_name="Beta-lactamase" /note="Beta-lactamase; pfam00144" /db_xref="CDD:278569" CDS 1..579 /gene="LACTBL1" /coded_by="NM_001289974.2:211..1950" /db_xref="GeneID:646262" /db_xref="HGNC:HGNC:35445" ORIGIN 1 mktqdgwwpn llkvkkkwll paicsffcll svvmtgcflw qyhlpklktg slgpeetsap 61 vrmcprhpep vplahplpvl kealekvdqi lrqamsapgv aamsavvihn dtvlwtgnfg 121 kkngsdpasg apneytmyri ssiskifpvl mlyrlweegi vaslddpler yastftinnp 181 lglasaeqqg lmdgleqvgp aprpspvtlr rmasqlsglp rrlrstsllw kgstqealnl 241 lkddvlvvdp gtrchystla fsllahvlaa htaqgdyqrw vsenvleplg madtgfdltp 301 dvrarlaagf ygsgrpaply dlgwyrpsgq mystaadlak lavallgggp rrllrpdaak 361 tllapllacp gayfanetgt pwefhaqrgy rvvrkdgdld gyaatfslvp plrlglvlll 421 agprppgpdl varaydellp aleralreae pgpappptah pfagyftfan ltfyevragp 481 agelrlrqfg prvealvppa frtlalrhlh grvfqlhvah efpcalplgd awlsleaqhg 541 qlvnfypldh hglspgfdvp glntyrvlrl rgkpvfktq // LOCUS NP_001350759 617 aa linear PRI 03-JUL-2020 DEFINITION schlafen family member 12-like isoform 1 [Homo sapiens]. ACCESSION NP_001350759 XP_016879494 VERSION NP_001350759.1 DBSOURCE REFSEQ: accession NM_001363830.1 KEYWORDS RefSeq. SOURCE Homo 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 Chaturvedi LS, Wang Q, More SK, Vomhof-DeKrey EE and Basson MD. TITLE Schlafen 12 mediates the effects of butyrate and repetitive mechanical deformation on intestinal epithelial differentiation in human Caco-2 intestinal epithelial cells JOURNAL Hum. Cell 32 (3), 240-250 (2019) PUBMED 30875077 REMARK GeneRIF: Schlafen 12 (SLFN12) is a cytosolic protein that stimulates sucrase-isomaltase (SI) expression. REFERENCE 2 (residues 1 to 617) AUTHORS Ding,L., Hayes,M.M., Photenhauer,A., Eaton,K.A., Li,Q., Ocadiz-Ruiz,R. and Merchant,J.L. TITLE Schlafen 4-expressing myeloid-derived suppressor cells are induced during murine gastric metaplasia JOURNAL J. Clin. Invest. 126 (8), 2867-2880 (2016) PUBMED 27427984 REMARK GeneRIF: in the stomachs of H. pylori-infected patients, the human SLFN4 ortholog SLFN12L colocalized to cells that expressed myeloid-derived suppressor cell surface markers CD15+CD33+HLA-DRlo REFERENCE 3 (residues 1 to 617) AUTHORS Terracciano A, Tanaka T, Sutin AR, Sanna S, Deiana B, Lai S, Uda M, Schlessinger D, Abecasis GR, Ferrucci L and Costa PT Jr. TITLE Genome-wide association scan of trait depression JOURNAL Biol. Psychiatry 68 (9), 811-817 (2010) PUBMED 20800221 REFERENCE 4 (residues 1 to 617) 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 5 (residues 1 to 617) 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 AC015911.8. On Jun 3, 2018 this sequence version replaced XP_016879494.1. 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 :: AK172761.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMN03267768 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..617 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q12" Protein 1..617 /product="schlafen family member 12-like isoform 1" /calculated_mol_wt=70603 Region <64..388 /region_name="B3R" /note="Poxviridae B3 protein; cl27772" /db_xref="CDD:332593" CDS 1..617 /gene="SLFN12L" /coded_by="NM_001363830.1:880..2733" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS86591.1" /db_xref="GeneID:100506736" /db_xref="HGNC:HGNC:33920" /db_xref="MIM:614956" ORIGIN 1 mamkimekir nvfhceahri lyicesqflr nfirkeflrg nglaagkmni sidldtnyae 61 lvlnvgrvtl gennrkkmkd cqlrkqqnen vsravcalln sgggvikaev enkgysykkd 121 gigldlensf snmlpfvpnf ldfmqngnyf hifvkswsle tsgpqiatls sslykrdvts 181 akvmnasaal eflkdmektg graylrpefp akracvdvqe esnmealaad ffnrtelgyk 241 ekltftesth veiknfstek llqriteilp qyvsafantd ggylfvglne dkevigfkae 301 ksyltkleev tknsigklpv hhfcvekgti nylckflgvy dkgrlcgyvy alrverfcca 361 vfakkpdswh vkdnrvkqlt ekewiqfmvd sepvceelps pastsspvsq syplreyinf 421 kiqplryhlp glsekitcap ktfcrnlfsq heglkqlice emgsvnkgsl ifsrswsldl 481 glqenhkvlc dallisqdkp pvlytfhmvq deefkdystq taqtlkqkla kiggytkkvc 541 vmtkifylsp egktscqydl nsqviypesy ywttaqtmkd lekalsnilp kenqiflfvc 601 lfrfclfvcw fvcfflr // LOCUS NP_001350802 171 aa linear PRI 03-JUL-2020 DEFINITION protein PPP5D1 isoform 2 [Homo sapiens]. ACCESSION NP_001350802 XP_005258454 VERSION NP_001350802.1 DBSOURCE REFSEQ: accession NM_001363873.1 KEYWORDS RefSeq. SOURCE Homo 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 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 171) 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 171) AUTHORS Bonaldo MF, Lennon G and Soares MB. TITLE Normalization and subtraction: two approaches to facilitate gene discovery JOURNAL Genome Res. 6 (9), 791-806 (1996) PUBMED 8889548 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA130492.1, BM718195.1, AK094504.1 and AC011484.7. On Jun 3, 2018 this sequence version replaced XP_005258454.1. ##Evidence-Data-START## Transcript exon combination :: AK094504.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA1970526 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..171 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.32" Protein 1..171 /product="protein PPP5D1 isoform 2" /EC_number="3.1.3.16" /note="PPP5 TPR repeat domain-containing protein 1; protein PPP5D1" /calculated_mol_wt=19492 Region 44..119 /region_name="PPP5" /note="PPP5 TPR repeat region; pfam08321" /db_xref="CDD:311981" CDS 1..171 /gene="PPP5D1" /coded_by="NM_001363873.1:232..747" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS86781.1" /db_xref="GeneID:100506012" /db_xref="HGNC:HGNC:44209" ORIGIN 1 maemrawrpl vrpslqcvkl gratarwwwv vkvkphdkda kmkyqecnki vkqkaferai 61 agdehkrsvv dsldiesmti egeysgpkle ddkvtitfmk glmqwykdqk klhqkcayqg 121 lalsprlkcs gtitahcsln llgprdppts asqvavtegm hhhtwliflf l // LOCUS NP_071329 251 aa linear PRI 03-JUL-2020 DEFINITION kallikrein-14 preproprotein [Homo sapiens]. ACCESSION NP_071329 VERSION NP_071329.3 DBSOURCE REFSEQ: accession NM_022046.6 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 251) AUTHORS Dettmar L, Ahmed N, Kotzsch M, Diersch S, Napieralski R, Darmoul D, Schmitt M, Weichert W, Kiechle M, Dorn J and Magdolen V. TITLE Advanced high-grade serous ovarian cancer: inverse association of KLK13 and KLK14 mRNA levels in tumor tissue and patients' prognosis JOURNAL J. Cancer Res. Clin. Oncol. 144 (6), 1109-1118 (2018) PUBMED 29546479 REMARK GeneRIF: There was no significant association of KLK13 and KLK14 mRNA expression with the clinical factors ascitic fluid volume or residual tumor mass. High KLK14 mRNA levels were significantly associated with prolonged PFS (HR = 0.44, P = 0.017) and showed a trend towards significance for OS (HR = 0.55, P = 0.070). REFERENCE 2 (residues 1 to 251) AUTHORS Solis-Calero C and Carvalho HF. TITLE KLK14 interactions with HAI-1 and HAI-2 serine protease inhibitors: A molecular dynamics and relative free-energy calculations study JOURNAL Cell Biol. Int. 41 (11), 1246-1264 (2017) PUBMED 28817220 REMARK GeneRIF: In this work, KLK14 binding to either hepatocyte growth factor activator inhibitor type-1 (HAI-1) or type-2 (HAI-2) was essayed using homology modeling, molecular dynamic simulations and free-energy calculations through MM/PBSA and MM/GBSA. KLK14 was successfully modeled. REFERENCE 3 (residues 1 to 251) AUTHORS Reid,J.C., Bennett,N.C., Stephens,C.R., Carroll,M.L., Magdolen,V., Clements,J.A. and Hooper,J.D. TITLE In vitro evidence that KLK14 regulates the components of the HGF/Met axis, pro-HGF and HGF-activator inhibitor 1A and 1B JOURNAL Biol. Chem. 397 (12), 1299-1305 (2016) PUBMED 27533117 REMARK GeneRIF: increased KLK14 activity could contribute at multiple levels to HGF/Met-mediated processes in prostate and other cancers REFERENCE 4 (residues 1 to 251) AUTHORS Devetzi M, Trangas T, Scorilas A, Xynopoulos D and Talieri M. TITLE Parallel overexpression and clinical significance of kallikrein-related peptidases 7 and 14 (KLK7KLK14) in colon cancer JOURNAL Thromb. Haemost. 109 (4), 716-725 (2013) PUBMED 23224034 REMARK GeneRIF: KLK7 and KLK14 gene expression can be regarded as markers of poor prognosis for colorectal cancer patients with discriminating power between CC and adenoma patients. REFERENCE 5 (residues 1 to 251) AUTHORS Stefansson K, Brattsand M, Ny A, Glas B and Egelrud T. TITLE Kallikrein-related peptidase 14 may be a major contributor to trypsin-like proteolytic activity in human stratum corneum JOURNAL Biol. Chem. 387 (6), 761-768 (2006) PUBMED 16800737 REMARK GeneRIF: The majority of KLK14 in the plantar stratum corneum is present in its catalytically active form. KLK14 could be immunohistochemically detected in sweat ducts, preferentially in the intraepidermal parts (the acrosyringium), and in sweat glands. REFERENCE 6 (residues 1 to 251) AUTHORS Yousef GM, Stephan C, Scorilas A, Ellatif MA, Jung K, Kristiansen G, Jung M, Polymeris ME and Diamandis EP. TITLE Differential expression of the human kallikrein gene 14 (KLK14) in normal and cancerous prostatic tissues JOURNAL Prostate 56 (4), 287-292 (2003) PUBMED 12858357 REMARK GeneRIF: KLK14 expression upregulated in advanced and more aggressive prostate tumors; may play role in tumor spread and may be new marker for prostate cancer diagnosis and prognosis REFERENCE 7 (residues 1 to 251) AUTHORS Yousef GM, Borgono CA, Scorilas A, Ponzone R, Biglia N, Iskander L, Polymeris ME, Roagna R, Sismondi P and Diamandis EP. TITLE Quantitative analysis of human kallikrein gene 14 expression in breast tumours indicates association with poor prognosis JOURNAL Br. J. Cancer 87 (11), 1287-1293 (2002) PUBMED 12439719 REMARK GeneRIF: KLK14 overexpression was found to be a significant predictor of decreased disease-free survival and overall survival in breast cancer patients REFERENCE 8 (residues 1 to 251) AUTHORS Yousef GM, Magklara A, Chang A, Jung K, Katsaros D and Diamandis EP. TITLE Cloning of a new member of the human kallikrein gene family, KLK14, which is down-regulated in different malignancies JOURNAL Cancer Res. 61 (8), 3425-3431 (2001) PUBMED 11309303 REFERENCE 9 (residues 1 to 251) AUTHORS Hooper JD, Bui LT, Rae FK, Harvey TJ, Myers SA, Ashworth LK and Clements JA. TITLE Identification and characterization of KLK14, a novel kallikrein serine protease gene located on human chromosome 19q13.4 and expressed in prostate and skeletal muscle JOURNAL Genomics 73 (1), 117-122 (2001) PUBMED 11352573 REFERENCE 10 (residues 1 to 251) AUTHORS Harvey TJ, Hooper JD, Myers SA, Stephenson SA, Ashworth LK and Clements JA. TITLE Tissue-specific expression patterns and fine mapping of the human kallikrein (KLK) locus on proximal 19q13.4 JOURNAL J. Biol. Chem. 275 (48), 37397-37406 (2000) PUBMED 10969073 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC114614.1 and BC074904.2. On Nov 10, 2018 this sequence version replaced NP_071329.2. Summary: This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1-3 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## CDS exon combination :: BC074905.2, AF283670.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA1968968 [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..251 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.41" Protein 1..251 /product="kallikrein-14 preproprotein" /note="kallikrein-like protein 6; kallikrein-14" /calculated_mol_wt=25506 sig_peptide 1..18 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1964 Region 25..247 /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 25 /site_type="cleavage" /db_xref="CDD:238113" Site order(67,111,204) /site_type="active" /db_xref="CDD:238113" Site order(198,219,221) /site_type="other" /note="substrate binding sites [chemical binding]" /db_xref="CDD:238113" CDS 1..251 /gene="KLK14" /gene_synonym="KLK-L6" /coded_by="NM_022046.6:233..988" /db_xref="CCDS:CCDS12823.2" /db_xref="GeneID:43847" /db_xref="HGNC:HGNC:6362" /db_xref="MIM:606135" ORIGIN 1 mfllltalqv laiamtqsqe denkiigght ctrssqpwqa allagprrrf lcggallsgq 61 wvitaahcgr pilqvalgkh nlrrweatqq vlrvvrqvth pnynsrthdn dlmllqlqqp 121 arigravrpi evtqacaspg tscrvsgwgt isspiarypa slqcvninis pdevcqkayp 181 rtitpgmvca gvpqggkdsc qgdsggplvc rgqlqglvsw gmercalpgy pgvytnlcky 241 rswieetmrd k // LOCUS NP_001351596 118 aa linear PRI 03-JUL-2020 DEFINITION uncharacterized protein C1orf232 isoform 2 [Homo sapiens]. ACCESSION NP_001351596 XP_024307194 VERSION NP_001351596.1 DBSOURCE REFSEQ: accession NM_001364667.1 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 AL391650.18. On Jun 28, 2018 this sequence version replaced XP_024307194.1. 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 :: HY086145.1, HY065339.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..118 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.11" Protein 1..118 /product="uncharacterized protein C1orf232 isoform 2" /note="uncharacterized protein C1orf232" /calculated_mol_wt=13297 CDS 1..118 /gene="C1orf232" /coded_by="NM_001364667.1:84..440" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:110806296" /db_xref="HGNC:HGNC:53426" ORIGIN 1 mnqafwktyk skvlqtlsge seedlaeere npalvgseta epteetfnpm sqlarrvqgv 61 gvkgwltmss lfnkededkl lpsepcadqy vrvclwwfwk gpevpllpgp fllvclsf // LOCUS NP_001103467 533 aa linear PRI 03-JUL-2020 DEFINITION kelch-like protein 33 isoform 2 [Homo sapiens]. ACCESSION NP_001103467 XP_063481 VERSION NP_001103467.2 DBSOURCE REFSEQ: accession NM_001109997.3 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 533) 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, 13 (2013) PUBMED 23676014 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 533) 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, BY797694.2 and BC146954.1. On Oct 31, 2009 this sequence version replaced NP_001103467.1. 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 :: SRR1660807.163528.1, SRR1660803.77381.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA2142680 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..533 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="14" /map="14q11.2" Protein 1..533 /product="kelch-like protein 33 isoform 2" /note="kelch-like protein 33" /calculated_mol_wt=57679 Region 75..175 /region_name="BACK" /note="BTB And C-terminal Kelch; smart00875" /db_xref="CDD:197943" Site order(83..85,88) /site_type="other" /note="Cullin binding site [polypeptide binding]" /db_xref="CDD:269808" Site order(98..99,106..107,111,116..117,119..120,122..124, 126..127) /site_type="other" /note="putative dimer interface [polypeptide binding]" /db_xref="CDD:269808" Region 210..258 /region_name="Kelch 1" /note="propagated from UniProtKB/Swiss-Prot (A6NCF5.2)" Region 253..505 /region_name="muta_rot_YjhT" /note="mutatrotase, YjhT family; TIGR03547" /db_xref="CDD:274641" Region 261..310 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 273..322 /region_name="Kelch 2" /note="propagated from UniProtKB/Swiss-Prot (A6NCF5.2)" Region 274..322 /region_name="Kelch" /note="Kelch domain; smart00612" /db_xref="CDD:128874" Region 311..356 /region_name="Kelch_1" /note="Kelch motif; pfam01344" /db_xref="CDD:279660" Region 312..355 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 323..369 /region_name="Kelch 3" /note="propagated from UniProtKB/Swiss-Prot (A6NCF5.2)" Region 358..>393 /region_name="Kelch_1" /note="Kelch motif; pfam01344" /db_xref="CDD:279660" Region 359..405 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 371..418 /region_name="Kelch 4" /note="propagated from UniProtKB/Swiss-Prot (A6NCF5.2)" Region 407..452 /region_name="Kelch_1" /note="Kelch motif; pfam01344" /db_xref="CDD:279660" Region 408..453 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 419..465 /region_name="Kelch 5" /note="propagated from UniProtKB/Swiss-Prot (A6NCF5.2)" Region 455..501 /region_name="KELCH repeat" /note="KELCH repeat [structural motif]" /db_xref="CDD:276965" Region 467..514 /region_name="Kelch 6" /note="propagated from UniProtKB/Swiss-Prot (A6NCF5.2)" CDS 1..533 /gene="KLHL33" /coded_by="NM_001109997.3:412..2013" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS53882.1" /db_xref="GeneID:123103" /db_xref="HGNC:HGNC:31952" ORIGIN 1 mllsgmresq gtevslrtis tqdlrllvsf aysgvvrarw pgllraaqaa lqyqssscld 61 lcqkglargl sparclalfp maeapglerl wskarhyllt hlpavalcpa fpslpaacla 121 elldsdelhv qeefeafvaa rcwlaanpet qeseakallr cvrfgrmstr elrrvraagl 181 lppltpdllh qlmveadvpg qerrrepdra lvviggdglr pdmalrqpsr avwwarafrc 241 gvglvrtvew gqlpalpapg rfrhgaasla gselyvcggq dfyshsntla stlrwepsqe 301 dweemaplsq arslfslval dgklyalggr hndvaldsve tynpelnvwr papalpapcf 361 ahaaailegq lyvsggcggt gqylaslmhy dpklekpgtf lspmgvprag hvmaalggrl 421 yvagglgete dllsfeayel rtdswthlap lpsphvgaas avlqgellvl ggyshrtyal 481 shlihaycpg lgrwlclgtl prpraempac iltlpavqhi alvptphqtk pag // LOCUS NP_001351640 251 aa linear PRI 03-JUL-2020 DEFINITION protein FAM243B [Homo sapiens]. ACCESSION NP_001351640 XP_006724008 VERSION NP_001351640.1 DBSOURCE REFSEQ: accession NM_001364711.1 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 CU633980.13. On Jun 30, 2018 this sequence version replaced XP_006724008.1. 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..251 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21p11.2" Protein 1..251 /product="protein FAM243B" /note="uncharacterized protein C21orf140" /calculated_mol_wt=29083 CDS 1..251 /gene="FAM243B" /coded_by="NM_001364711.1:1..756" /db_xref="GeneID:102723451" /db_xref="HGNC:HGNC:53888" ORIGIN 1 mprfaspllr nviirsqfdg ikrkqclqyl ktlrtlqydg fktvyfgetn ipeslvtged 61 isdgyfiqtp twcivhaags qgwvpwkyrv flrdelcikq edslfsefcd vvrkaygkcv 121 ivvkerrqqe eqrpkedrea egqfyiptvi slasimccpe vakscghell slpspcnyln 181 pldsawsslk wfiinnrnef clqsidsgys yqcilfsnli skgierinas kwrtltskvr 241 rwenyylgkf s // LOCUS NP_001005567 312 aa linear PRI 03-JUL-2020 DEFINITION olfactory receptor 51B5 [Homo sapiens]. ACCESSION NP_001005567 VERSION NP_001005567.2 DBSOURCE REFSEQ: accession NM_001005567.3 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 312) AUTHORS Tsai T, Veitinger S, Peek I, Busse D, Eckardt J, Vladimirova D, Jovancevic N, Wojcik S, Gisselmann G, Altmuller J, Stander S, Luger T, Paus R, Cheret J and Hatt H. TITLE Two olfactory receptors-OR2A4/7 and OR51B5-differentially affect epidermal proliferation and differentiation JOURNAL Exp. Dermatol. 26 (1), 58-65 (2017) PUBMED 27315375 REMARK GeneRIF: OR51B5 and ISO play important roles in HaCaT and keratinocyte migration, thereby influencing wound healing. REFERENCE 2 (residues 1 to 312) AUTHORS Solovieff N, Milton JN, Hartley SW, Sherva R, Sebastiani P, Dworkis DA, Klings ES, Farrer LA, Garrett ME, Ashley-Koch A, Telen MJ, Fucharoen S, Ha SY, Li CK, Chui DH, Baldwin CT and Steinberg MH. TITLE Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster JOURNAL Blood 115 (9), 1815-1822 (2010) PUBMED 20018918 REMARK GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 3 (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 4 (residues 1 to 312) AUTHORS Bulger M, Bender MA, van Doorninck JH, Wertman B, Farrell CM, Felsenfeld G, Groudine M and Hardison R. TITLE Comparative structural and functional analysis of the olfactory receptor genes flanking the human and mouse beta-globin gene clusters JOURNAL Proc. Natl. Acad. Sci. U.S.A. 97 (26), 14560-14565 (2000) PUBMED 11121057 REFERENCE 5 (residues 1 to 312) AUTHORS Bulger M, van Doorninck JH, Saitoh N, Telling A, Farrell C, Bender MA, Felsenfeld G, Axel R and Groudine M. TITLE Conservation of sequence and structure flanking the mouse and human beta-globin loci: the beta-globin genes are embedded within an array of odorant receptor genes JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (9), 5129-5134 (1999) PUBMED 10220430 REMARK Erratum:[Proc Natl Acad Sci U S A 1999 Jul 6;96(14):8307. von Doorninck JH [corrected to van Doorninck JH]] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC087380.3 and AC104389.8. On May 26, 2011 this sequence version replaced NP_001005567.1. 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]. Transcript Variant: This variant (1) encodes the olfactory receptor 51B5. Sequence Note: The RefSeq transcript and protein were derived from 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 :: BC022184.1, SRR5189661.86958.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support SAMEA2148874 [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..312 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11p15.4" Protein 1..312 /product="olfactory receptor 51B5" /note="olfactory receptor OR11-37; odorant receptor HOR5'beta5" /calculated_mol_wt=35110 Site 24..44 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H339.2)" Region 29..305 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 39..290 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 53..73 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H339.2)" Site 98..118 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H339.2)" Site 138..158 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H339.2)" Site 195..215 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H339.2)" Site 236..256 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H339.2)" Site 272..292 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H339.2)" CDS 1..312 /gene="OR51B5" /gene_synonym="HOR5'Beta5; OR11-37" /coded_by="NM_001005567.3:444..1382" /db_xref="CCDS:CCDS31378.1" /db_xref="GeneID:282763" /db_xref="HGNC:HGNC:19599" ORIGIN 1 msssgsshpf lltgfpglee ahhwisvffl fmyisilfgn gtlllliked hnlhepmyff 61 lamlaatdlg lalttmptvl gvlwldhrei gsaacfsqay fihslsfles gillamaydr 121 fiaicnplry tsvltntrvv kiglgvlmrg fvsvvppirp lyfflychsh vlshafclhq 181 dviklacadt tfnrlypavl vvfifvldyl iifisyvlil ktvlsiasre erakalitcv 241 shiccvlvfy vtviglslih rfgkqvphiv hlimsyayfl fpplmnpity svktkqiqna 301 ilhlftthri gt // LOCUS NP_001298111 251 aa linear PRI 03-JUL-2020 DEFINITION kallikrein-14 preproprotein [Homo sapiens]. ACCESSION NP_001298111 VERSION NP_001298111.2 DBSOURCE REFSEQ: accession NM_001311182.2 KEYWORDS RefSeq. SOURCE Homo 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 Dettmar L, Ahmed N, Kotzsch M, Diersch S, Napieralski R, Darmoul D, Schmitt M, Weichert W, Kiechle M, Dorn J and Magdolen V. TITLE Advanced high-grade serous ovarian cancer: inverse association of KLK13 and KLK14 mRNA levels in tumor tissue and patients' prognosis JOURNAL J. Cancer Res. Clin. Oncol. 144 (6), 1109-1118 (2018) PUBMED 29546479 REMARK GeneRIF: There was no significant association of KLK13 and KLK14 mRNA expression with the clinical factors ascitic fluid volume or residual tumor mass. High KLK14 mRNA levels were significantly associated with prolonged PFS (HR = 0.44, P = 0.017) and showed a trend towards significance for OS (HR = 0.55, P = 0.070). REFERENCE 2 (residues 1 to 251) AUTHORS Solis-Calero C and Carvalho HF. TITLE KLK14 interactions with HAI-1 and HAI-2 serine protease inhibitors: A molecular dynamics and relative free-energy calculations study JOURNAL Cell Biol. Int. 41 (11), 1246-1264 (2017) PUBMED 28817220 REMARK GeneRIF: In this work, KLK14 binding to either hepatocyte growth factor activator inhibitor type-1 (HAI-1) or type-2 (HAI-2) was essayed using homology modeling, molecular dynamic simulations and free-energy calculations through MM/PBSA and MM/GBSA. KLK14 was successfully modeled. REFERENCE 3 (residues 1 to 251) AUTHORS Reid,J.C., Bennett,N.C., Stephens,C.R., Carroll,M.L., Magdolen,V., Clements,J.A. and Hooper,J.D. TITLE In vitro evidence that KLK14 regulates the components of the HGF/Met axis, pro-HGF and HGF-activator inhibitor 1A and 1B JOURNAL Biol. Chem. 397 (12), 1299-1305 (2016) PUBMED 27533117 REMARK GeneRIF: increased KLK14 activity could contribute at multiple levels to HGF/Met-mediated processes in prostate and other cancers REFERENCE 4 (residues 1 to 251) AUTHORS Devetzi M, Trangas T, Scorilas A, Xynopoulos D and Talieri M. TITLE Parallel overexpression and clinical significance of kallikrein-related peptidases 7 and 14 (KLK7KLK14) in colon cancer JOURNAL Thromb. Haemost. 109 (4), 716-725 (2013) PUBMED 23224034 REMARK GeneRIF: KLK7 and KLK14 gene expression can be regarded as markers of poor prognosis for colorectal cancer patients with discriminating power between CC and adenoma patients. REFERENCE 5 (residues 1 to 251) AUTHORS Stefansson K, Brattsand M, Ny A, Glas B and Egelrud T. TITLE Kallikrein-related peptidase 14 may be a major contributor to trypsin-like proteolytic activity in human stratum corneum JOURNAL Biol. Chem. 387 (6), 761-768 (2006) PUBMED 16800737 REMARK GeneRIF: The majority of KLK14 in the plantar stratum corneum is present in its catalytically active form. KLK14 could be immunohistochemically detected in sweat ducts, preferentially in the intraepidermal parts (the acrosyringium), and in sweat glands. REFERENCE 6 (residues 1 to 251) AUTHORS Yousef GM, Stephan C, Scorilas A, Ellatif MA, Jung K, Kristiansen G, Jung M, Polymeris ME and Diamandis EP. TITLE Differential expression of the human kallikrein gene 14 (KLK14) in normal and cancerous prostatic tissues JOURNAL Prostate 56 (4), 287-292 (2003) PUBMED 12858357 REMARK GeneRIF: KLK14 expression upregulated in advanced and more aggressive prostate tumors; may play role in tumor spread and may be new marker for prostate cancer diagnosis and prognosis REFERENCE 7 (residues 1 to 251) AUTHORS Yousef GM, Borgono CA, Scorilas A, Ponzone R, Biglia N, Iskander L, Polymeris ME, Roagna R, Sismondi P and Diamandis EP. TITLE Quantitative analysis of human kallikrein gene 14 expression in breast tumours indicates association with poor prognosis JOURNAL Br. J. Cancer 87 (11), 1287-1293 (2002) PUBMED 12439719 REMARK GeneRIF: KLK14 overexpression was found to be a significant predictor of decreased disease-free survival and overall survival in breast cancer patients REFERENCE 8 (residues 1 to 251) AUTHORS Yousef GM, Magklara A, Chang A, Jung K, Katsaros D and Diamandis EP. TITLE Cloning of a new member of the human kallikrein gene family, KLK14, which is down-regulated in different malignancies JOURNAL Cancer Res. 61 (8), 3425-3431 (2001) PUBMED 11309303 REFERENCE 9 (residues 1 to 251) AUTHORS Hooper JD, Bui LT, Rae FK, Harvey TJ, Myers SA, Ashworth LK and Clements JA. TITLE Identification and characterization of KLK14, a novel kallikrein serine protease gene located on human chromosome 19q13.4 and expressed in prostate and skeletal muscle JOURNAL Genomics 73 (1), 117-122 (2001) PUBMED 11352573 REFERENCE 10 (residues 1 to 251) AUTHORS Harvey TJ, Hooper JD, Myers SA, Stephenson SA, Ashworth LK and Clements JA. TITLE Tissue-specific expression patterns and fine mapping of the human kallikrein (KLK) locus on proximal 19q13.4 JOURNAL J. Biol. Chem. 275 (48), 37397-37406 (2000) PUBMED 10969073 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC114614.1 and AC011473.4. On Nov 10, 2018 this sequence version replaced NP_001298111.1. Summary: This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a 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. Variants 1-3 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 :: BC114614.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968189 [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..251 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.41" Protein 1..251 /product="kallikrein-14 preproprotein" /note="kallikrein-like protein 6; kallikrein-14" /calculated_mol_wt=25506 sig_peptide 1..18 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1964 Region 25..247 /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 25 /site_type="cleavage" /db_xref="CDD:238113" Site order(67,111,204) /site_type="active" /db_xref="CDD:238113" Site order(198,219,221) /site_type="other" /note="substrate binding sites [chemical binding]" /db_xref="CDD:238113" CDS 1..251 /gene="KLK14" /gene_synonym="KLK-L6" /coded_by="NM_001311182.2:233..988" /db_xref="CCDS:CCDS12823.2" /db_xref="GeneID:43847" /db_xref="HGNC:HGNC:6362" /db_xref="MIM:606135" ORIGIN 1 mfllltalqv laiamtqsqe denkiigght ctrssqpwqa allagprrrf lcggallsgq 61 wvitaahcgr pilqvalgkh nlrrweatqq vlrvvrqvth pnynsrthdn dlmllqlqqp 121 arigravrpi evtqacaspg tscrvsgwgt isspiarypa slqcvninis pdevcqkayp 181 rtitpgmvca gvpqggkdsc qgdsggplvc rgqlqglvsw gmercalpgy pgvytnlcky 241 rswieetmrd k // LOCUS NP_000834 877 aa linear PRI 03-JUL-2020 DEFINITION metabotropic glutamate receptor 6 precursor [Homo sapiens]. ACCESSION NP_000834 VERSION NP_000834.2 DBSOURCE REFSEQ: accession NM_000843.4 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 877) AUTHORS Liu HY, Huang J, Xiao H, Zhang MJ, Shi FF, Jiang YH, Du H, He Q and Wang ZY. TITLE Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing JOURNAL Mol Genet Genomic Med 7 (12), e952 (2019) PUBMED 31677249 REMARK GeneRIF: Study reported a rare case of pseudodominantly inherited autosomal recessive congenital stationary night blindness in a family with three co-segregating deleterious variants (p.Arg621Ter, p.Gly51Val, and p.Gly464Arg) of GRM6. REFERENCE 2 (residues 1 to 877) AUTHORS Tourville A, Michiels C, Condroyer C, Meunier A, Cordonnier M, Sahel JA, Audo I, Abramowicz M and Zeitz C. TITLE Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness JOURNAL Ophthalmic Genet. 40 (2), 182-184 (2019) PUBMED 31063016 REMARK GeneRIF: We identified a novel homozygous missense mutation in exon 8 of GRM6 (NM_000843.3). REFERENCE 3 (residues 1 to 877) AUTHORS Eleftheriou CG, Cehajic-Kapetanovic J, Martial FP, Milosavljevic N, Bedford RA and Lucas RJ. TITLE Meclofenamic acid improves the signal to noise ratio for visual responses produced by ectopic expression of human rod opsin JOURNAL Mol. Vis. 23, 334-345 (2017) PUBMED 28659709 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 877) AUTHORS Dan H, Song X, Li J, Xing Y and Li T. TITLE Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness JOURNAL Ophthalmic Genet. 38 (3), 206-210 (2017) PUBMED 27428514 REFERENCE 5 (residues 1 to 877) AUTHORS Wang H, Su S, Yang M, Hu N, Yao Y, Zhu R, Zhou J, Liang C and Guan H. TITLE Association of ZNF644, GRM6, and CTNND2 genes with high myopia in the Han Chinese population: Jiangsu Eye Study JOURNAL Eye (Lond) 30 (7), 1017-1022 (2016) PUBMED 27034204 REMARK GeneRIF: Our data suggested that genetic variants in GRM6 are associated with high myopia. The mechanism of GRM6 in the development of high myopia need to be further investigated. REFERENCE 6 (residues 1 to 877) AUTHORS Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Matyas G, Hoyng CB, Riemslag F, Meire F, Cremers FP and Berger W. TITLE Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram JOURNAL Invest. Ophthalmol. Vis. Sci. 46 (11), 4328-4335 (2005) PUBMED 16249515 REMARK GeneRIF: Affected individuals in three of five families carried either compound heterozygous or homozygous mutations in GRM6. REFERENCE 7 (residues 1 to 877) AUTHORS Dryja TP, McGee TL, Berson EL, Fishman GA, Sandberg MA, Alexander KR, Derlacki DJ and Rajagopalan AS. TITLE Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6 JOURNAL Proc. Natl. Acad. Sci. U.S.A. 102 (13), 4884-4889 (2005) PUBMED 15781871 REFERENCE 8 (residues 1 to 877) AUTHORS Valerio A, Ferraboli S, Paterlini M, Spano P and Barlati S. TITLE Identification of novel alternatively-spliced mRNA isoforms of metabotropic glutamate receptor 6 gene in rat and human retina JOURNAL Gene 262 (1-2), 99-106 (2001) PUBMED 11179672 REFERENCE 9 (residues 1 to 877) AUTHORS Dhingra A, Lyubarsky A, Jiang M, Pugh EN Jr, Birnbaumer L, Sterling P and Vardi N. TITLE The light response of ON bipolar neurons requires G[alpha]o JOURNAL J. Neurosci. 20 (24), 9053-9058 (2000) PUBMED 11124982 REFERENCE 10 (residues 1 to 877) AUTHORS Hashimoto T, Inazawa J, Okamoto N, Tagawa Y, Bessho Y, Honda Y and Nakanishi S. TITLE The whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6 JOURNAL Eur. J. Neurosci. 9 (6), 1226-1235 (1997) PUBMED 9215706 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC104117.2, BY797310.2, BM726590.1, BY796285.2, BM681239.1, BX647168.1 and BM665594.1. This sequence is a reference standard in the RefSeqGene project. On Jul 20, 2006 this sequence version replaced NP_000834.1. Summary: 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 metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Mutations in this gene result in congenital stationary night blindness type 1B. [provided by RefSeq, May 2018]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: 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## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000517717.3/ ENSP00000430767.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..877 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q35.3" Protein 1..877 /product="metabotropic glutamate receptor 6 precursor" /note="glutamate receptor, metabotropic 6" /calculated_mol_wt=92773 sig_peptide 1..24 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O15303.2)" /calculated_mol_wt=2713 mat_peptide 25..877 /product="Metabotropic glutamate receptor 6. /id=PRO_0000012934" /note="propagated from UniProtKB/Swiss-Prot (O15303.2)" /calculated_mol_wt=92773 Region 45..506 /region_name="Periplasmic_Binding_Protein_Type_1" /note="Type 1 periplasmic binding fold superfamily; cl10011" /db_xref="CDD:299141" Region 67..476 /region_name="ANF_receptor" /note="Receptor family ligand binding region; pfam01094" /db_xref="CDD:279440" Region 175..177 /region_name="Glutamate binding. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (O15303.2)" Site 296 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O15303.2)" Site 451 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O15303.2)" Site 479 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O15303.2)" Region 515..562 /region_name="NCD3G" /note="Nine Cysteines Domain of family 3 GPCR; pfam07562" /db_xref="CDD:284890" Site 567 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O15303.2)" Site 586..608 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O15303.2)" Region 597..842 /region_name="7tm_3" /note="7 transmembrane sweet-taste receptor of 3 GCPR; pfam00003" /db_xref="CDD:278433" Site 623..643 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O15303.2)" Site 655..673 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O15303.2)" Site 698..718 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O15303.2)" Site 749..770 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O15303.2)" Site 784..806 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O15303.2)" Site 820..845 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O15303.2)" CDS 1..877 /gene="GRM6" /gene_synonym="CSNB1B; GPRC1F; mGlu6; MGLUR6" /coded_by="NM_000843.4:62..2695" /db_xref="CCDS:CCDS4442.1" /db_xref="GeneID:2916" /db_xref="HGNC:HGNC:4598" /db_xref="MIM:604096" ORIGIN 1 marprrarep llvallplaw laqaglaraa gsvrlagglt lgglfpvhar gaagracgql 61 kkeqgvhrle amlyaldrvn adpellpgvr lgarlldtcs rdtyaleqal sfvqalirgr 121 gdgdevgvrc pggvpplrpa ppervvavvg asassvsimv anvlrlfaip qisyastape 181 lsdstrydff srvvppdsyq aqamvdivra lgwnyvstla segnygesgv eafvqisrea 241 ggvciaqsik iprepkpgef skvirrlmet pnargiiifa neddirrvle aarqanltgh 301 flwvgsdswg aktspilsle dvavgaitil pkrasidgfd qyfmtrslen nrrniwfaef 361 weenfncklt ssgtqsddst rkctgeerig rdstyeqegk vqfvidavya iahalhsmhq 421 alcpghtglc pameptdgrm llqyiravrf ngsagtpvmf nengdapgry difqyqatng 481 sassggyqav gqwaetlrld vealqwsgdp hevpsslcsl pcgpgerkkm vkgvpccwhc 541 eacdgyrfqv deftceacpg dmrptpnhtg crptpvvrls wsspwaappl llavlgivat 601 ttvvatfvry nntpivrasg relsyvlltg ifliyaitfl mvaepgaavc aarrlflglg 661 ttlsysallt ktnriyrife qgkrsvtppp fisptsqlvi tfsltslqvv gmiawlgarp 721 phsvidyeeq rtvdpeqarg vlkcdmsdls ligclgysll lmvtctvyai kargvpetfn 781 eakpigftmy ttciiwlafv piffgtaqsa ekiyiqtttl tvslslsasv slgmlyvpkt 841 yvilfhpeqn vqkrkrslka tstvaappkg edaeahk // LOCUS NP_115695 188 aa linear PRI 03-JUL-2020 DEFINITION protease-associated domain-containing protein 1 precursor [Homo sapiens]. ACCESSION NP_115695 VERSION NP_115695.1 DBSOURCE REFSEQ: accession NM_032319.3 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 188) AUTHORS Zhou YB, Liu F, Zhu ZD, Zhu H, Zhang X, Wang ZQ, Liu JH and Han ZG. TITLE N-glycosylation is required for efficient secretion of a novel human secreted glycoprotein, hPAP21 JOURNAL FEBS Lett. 576 (3), 401-407 (2004) PUBMED 15498570 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BM556790.1 and BC005069.1. Transcript Variant: This variant (1) represents the longer, protein-coding variant. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.50309.1, SRR3476690.947677.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000258083.3/ ENSP00000258083.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..188 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2p13.2" Protein 1..188 /product="protease-associated domain-containing protein 1 precursor" /note="protease-associated domain-containing glycoprotein 21 kDa; protease-associated domain-containing protein of 21 kDa; protease-associated domain-containing protein 1" /calculated_mol_wt=18929 sig_peptide 1..21 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2132 Region 51..168 /region_name="PA_hPAP21_like" /note="Protease-associated domain containing proteins like the human secreted glycoprotein hPAP21 (human protease-associated domain-containing protein, 21kDa). This group contains various PA domain-containing proteins similar to hPAP21. Complex N-glycosylation...; cd02127" /db_xref="CDD:239042" Site 121 /site_type="other" /note="Not glycosylated. /evidence=ECO:0000305; propagated from UniProtKB/Swiss-Prot (Q9BSG0.1)" Site 126..128 /site_type="other" /note="PA/protease or protease-like domain interface [polypeptide binding]" /db_xref="CDD:239042" Site 171 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:15498570; propagated from UniProtKB/Swiss-Prot (Q9BSG0.1)" CDS 1..188 /gene="PRADC1" /gene_synonym="C2orf7; PAP21" /coded_by="NM_032319.3:80..646" /db_xref="CCDS:CCDS1924.1" /db_xref="GeneID:84279" /db_xref="HGNC:HGNC:16047" ORIGIN 1 mvpgaagwcc lvlwlpacva ahgfrihdyl yfqvlspgdi ryiftatpak dfggifhtry 61 eqihlvpaep peacgelsng ffiqdqialv erggcsflsk trvvqehggr aviisdnavd 121 ndsfyvemiq dstqrtadip alfllgrdgy mirrsleqhg lpwaiisipv nvtsiptfel 181 lqppwtfw // LOCUS NP_001351099 319 aa linear PRI 04-JUL-2020 DEFINITION uncharacterized protein CLBA1 isoform 2 [Homo sapiens]. ACCESSION NP_001351099 XP_005267374 VERSION NP_001351099.1 DBSOURCE REFSEQ: accession NM_001364170.1 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 319) 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 VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL512802.2. On Jun 9, 2018 this sequence version replaced XP_005267374.1. 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 :: SRR1660805.82080.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..319 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="14" /map="14q32.33" Protein 1..319 /product="uncharacterized protein CLBA1 isoform 2" /note="uncharacterized protein C14orf79; clathrin-binding box of aftiphilin-containing protein 1" /calculated_mol_wt=35114 Region 193..272 /region_name="Clathrin_bdg" /note="Clathrin-binding box of Aftiphilin, vesicle trafficking; pfam15045" /db_xref="CDD:317461" CDS 1..319 /gene="CLBA1" /gene_synonym="C14orf79" /coded_by="NM_001364170.1:154..1113" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:122616" /db_xref="HGNC:HGNC:20126" ORIGIN 1 mqgrrelgge plsdlqeeaa saslrvaper lsddslewrr tcpdlllsdg kasismpreg 61 gstctarcpd pgehsstwge fegfressak sgqfsqslel legptepqpp rttsapkecs 121 shqpcqggpw vtgtsavpps epilsyenil kcafqeitvq qaaedvstid hfleisseek 181 pgvervhklc nesrklwral qsihttstsq rlwsesrcqe nfflvlgida aqknlsggqg 241 himedcdlke peglltvssf clqhckaliq tkgrqanceh hcrvprnint irkdsqargp 301 riwvghagea rerrelqgs // LOCUS NP_945339 501 aa linear PRI 04-JUL-2020 DEFINITION leukocyte receptor cluster member 9 isoform 1 [Homo sapiens]. ACCESSION NP_945339 XP_371193 VERSION NP_945339.2 DBSOURCE REFSEQ: accession NM_198988.2 KEYWORDS RefSeq. SOURCE Homo 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 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 501) 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] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CU207370.12 and BC015921.1. On Sep 26, 2008 this sequence version replaced NP_945339.1. Transcript Variant: This variant (1) is derived from the allele represented in the ALT_REF_LOCI_7 and ALT_REF_LOCI_9 alternate haplotypes of the GRCh38 reference genome. It 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 is intronless :: BC015921.1 [ECO:0000345] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..501 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.42" Protein 1..501 /product="leukocyte receptor cluster member 9 isoform 1" /note="leukocyte receptor cluster (LRC) member 9" /calculated_mol_wt=53036 Region <46..>61 /region_name="ZnF_C3H1" /note="zinc finger; smart00356" /db_xref="CDD:214632" Region 109..160 /region_name="DUF504" /note="Protein of unknown function (DUF504); pfam04457" /db_xref="CDD:282333" Region 320..500 /region_name="AKAP7_NLS" /note="AKAP7 2'5' RNA ligase-like domain; pfam10469" /db_xref="CDD:287446" CDS 1..501 /gene="LENG9" /coded_by="NM_198988.2:187..1692" /note="isoform 1 is encoded by transcript variant 1" /db_xref="GeneID:94059" /db_xref="HGNC:HGNC:16306" ORIGIN 1 mgsrppcgat ssarracqfp apmaaarepe lpqeapatep apppacrffl egrcrfgarc 61 rqphpgapap pgreaqpeag akkpplrtaa dviqrirwdp rldpadfsvg yvdrflgvre 121 epfsafcwdq plaalgpgvl avpqhrvrff rfhgrlvwdr asrtdlvfgs gsaagrgpti 181 ldapntegah gaegaewtla gtgqeaqaap krgstrplct ghqepgveep geleaaqera 241 lgtaadlgtl aprgrlagvt eealkptaat rttllggkea qalgvpggsa etteaewgpa 301 awpedkrarl svaapcqprp thfvalmvte pglqaevtka qeylvhvaph canflvpsqn 361 lhltlallrl agageeaaai galrrallap glnapprlsf rklvllgphv lcappsptle 421 smaqvlsqrl eaeglstlqs pgqlhphltv akvphgsqvh lpkleftlsq evgcqplqtl 481 wlcrigrtgg pfqplaeirl e // LOCUS NP_689522 805 aa linear PRI 04-JUL-2020 DEFINITION phosphoinositide 3-kinase adapter protein 1 [Homo sapiens]. ACCESSION NP_689522 VERSION NP_689522.2 DBSOURCE REFSEQ: accession NM_152309.3 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 805) 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 KRAS(G13D) JOURNAL Nat Commun 11 (1), 499 (2020) PUBMED 31980649 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 805) AUTHORS Singh MD, Ni M, Sullivan JM, Hamerman JA and Campbell DJ. TITLE B cell adaptor for PI3-kinase (BCAP) modulates CD8(+) effector and memory T cell differentiation JOURNAL J. Exp. Med. 215 (9), 2429-2443 (2018) PUBMED 30093532 REMARK GeneRIF: induction of BCAP serves as a positive feedback circuit to enhance PI3K signaling in activated CD8(+) T cells, thereby acting as a molecular checkpoint regulating effector and memory T cell development. REFERENCE 3 (residues 1 to 805) 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 805) AUTHORS Halabi S, Sekine E, Verstak B, Gay NJ and Moncrieffe MC. TITLE Structure of the Toll/Interleukin-1 Receptor (TIR) Domain of the B-cell Adaptor That Links Phosphoinositide Metabolism with the Negative Regulation of the Toll-like Receptor (TLR) Signalosome JOURNAL J. Biol. Chem. 292 (2), 652-660 (2017) PUBMED 27909057 REMARK GeneRIF: Dimeric BCAP associates with the TIR domains of TLR2/4 and MAL/TIRAP, suggesting that it is recruited to the TLR signalosome by multitypic TIR-TIR interactions. REFERENCE 5 (residues 1 to 805) AUTHORS Hong KW, Kim SS and Kim Y. TITLE Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations JOURNAL Genomics Inform 11 (3), 129-134 (2013) PUBMED 24124408 REFERENCE 6 (residues 1 to 805) AUTHORS Koutros S, Schumacher FR, Hayes RB, Ma J, Huang WY, Albanes D, Canzian F, Chanock SJ, Crawford ED, Diver WR, Feigelson HS, Giovanucci E, Haiman CA, Henderson BE, Hunter DJ, Kaaks R, Kolonel LN, Kraft P, Le Marchand L, Riboli E, Siddiq A, Stampfer MJ, Stram DO, Thomas G, Travis RC, Thun MJ, Yeager M and Berndt SI. TITLE Pooled analysis of phosphatidylinositol 3-kinase pathway variants and risk of prostate cancer JOURNAL Cancer Res. 70 (6), 2389-2396 (2010) PUBMED 20197460 REMARK GeneRIF: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) REFERENCE 7 (residues 1 to 805) 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 805) AUTHORS Maruoka M, Suzuki J, Kawata S, Yoshida K, Hirao N, Sato S, Goff SP, Takeya T, Tani K and Shishido T. TITLE Identification of B cell adaptor for PI3-kinase (BCAP) as an Abl interactor 1-regulated substrate of Abl kinases JOURNAL FEBS Lett. 579 (14), 2986-2990 (2005) PUBMED 15893754 REMARK GeneRIF: Abi-1 promotes Abl-mediated BCAP phosphorylation and suggest that Abi-1 in general coordinates kinase-substrate interactions REFERENCE 9 (residues 1 to 805) AUTHORS Okada T, Maeda A, Iwamatsu A, Gotoh K and Kurosaki T. TITLE BCAP: the tyrosine kinase substrate that connects B cell receptor to phosphoinositide 3-kinase activation JOURNAL Immunity 13 (6), 817-827 (2000) PUBMED 11163197 REFERENCE 10 (residues 1 to 805) AUTHORS Edwards,J.A., Sethi,P.K., Scoma,A.J., Bannerman,R.M. and Frohman,L.A. TITLE A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance JOURNAL Am. J. Med. 60 (1), 23-32 (1976) PUBMED 1251844 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK125635.1, BX648550.1, AK092883.1, AK122584.1 and AI826732.1. On Mar 17, 2004 this sequence version replaced NP_689522.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK125635.1, SRR1803616.75811.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000339364.10/ ENSP00000339826.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..805 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10q24.1" Protein 1..805 /product="phosphoinositide 3-kinase adapter protein 1" /note="B cell adaptor protein; B-cell adapter for phosphoinositide 3-kinase; B-cell phosphoinositide 3-kinase adapter protein 1" /calculated_mol_wt=90267 Region 10..144 /region_name="Necessary and sufficient to mediate inhibition of NF-kappa-B downstream of activated TLRs, may mediate interaction with MYD88 and TIRAP. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q6ZUJ8.2)" Region 180..318 /region_name="DBB" /note="Dof, BCAP, and BANK (DBB) motif; pfam14545" /db_xref="CDD:291229" Site 263 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0000250|UniProtKB:Q9EQ32; propagated from UniProtKB/Swiss-Prot (Q6ZUJ8.2)" Site 419 /site_type="phosphorylation" /note="Phosphotyrosine, by SYK. /evidence=ECO:0000250|UniProtKB:Q9EQ32; propagated from UniProtKB/Swiss-Prot (Q6ZUJ8.2)" Site 444 /site_type="phosphorylation" /note="Phosphotyrosine, by SYK. /evidence=ECO:0000250|UniProtKB:Q9EQ32; propagated from UniProtKB/Swiss-Prot (Q6ZUJ8.2)" Site 459 /site_type="phosphorylation" /note="Phosphotyrosine, by SYK. /evidence=ECO:0000250|UniProtKB:Q9EQ32; propagated from UniProtKB/Swiss-Prot (Q6ZUJ8.2)" Site 513 /site_type="phosphorylation" /note="Phosphotyrosine, by ABL1. /evidence=ECO:0000269|PubMed:15893754; propagated from UniProtKB/Swiss-Prot (Q6ZUJ8.2)" Site 553 /site_type="phosphorylation" /note="Phosphotyrosine, by ABL1. /evidence=ECO:0000269|PubMed:15893754; propagated from UniProtKB/Swiss-Prot (Q6ZUJ8.2)" Site 570 /site_type="phosphorylation" /note="Phosphotyrosine, by ABL1. /evidence=ECO:0000269|PubMed:15893754; propagated from UniProtKB/Swiss-Prot (Q6ZUJ8.2)" Site 594 /site_type="phosphorylation" /note="Phosphotyrosine, by ABL1. /evidence=ECO:0000269|PubMed:15893754; propagated from UniProtKB/Swiss-Prot (Q6ZUJ8.2)" Site 642 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q6ZUJ8.2)" Site 694 /site_type="phosphorylation" /note="Phosphotyrosine, by ABL1. /evidence=ECO:0000269|PubMed:15893754; propagated from UniProtKB/Swiss-Prot (Q6ZUJ8.2)" Site 718 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:24275569; propagated from UniProtKB/Swiss-Prot (Q6ZUJ8.2)" CDS 1..805 /gene="PIK3AP1" /gene_synonym="BCAP" /coded_by="NM_152309.3:121..2538" /db_xref="CCDS:CCDS31259.1" /db_xref="GeneID:118788" /db_xref="HGNC:HGNC:30034" /db_xref="MIM:607942" ORIGIN 1 maasgvprgc dilivyspda eewcqylqtl flssrqvrsq kilthrlgpe asfsaedlsl 61 flstrcvvvl lsaelvqhfh kpallpllqr afhpphrvvr llcgvrdsee fldffpdwah 121 wqeltcddep etyvaavkka isedsgcdsv tdtepedekv vsyskqqnlp tvtspgnlmv 181 vqpdrircga ettvyvivrc klddrvatea efspedspsv rmeakveney tisvkapnls 241 sgnvslkiys gdlvvcetvi syytdmeeig nllsnaanpv efmcqafkiv pyntetldkl 301 lteslknnip asglhlfgin qleeedmmtn qrdeelptll hfaakyglkn ltallltcpg 361 alqaysvank hghypntiae khgfrdlrqf ideyvetvdm lkshikeelm hgeeadavye 421 smahlstdll mkcslnpgcd edlyesmaaf vpaatedlyv emlqastsnp ipgdgfsrat 481 kdsmirkfle gnsmgmtnle rdqchlgqee dvyhtvddde afsvdlasrp pvpvprpett 541 apgahqlpdn epyifkvfae ksqerpgnfy vssesirkgp pvrpwrdrpq ssiydpfagm 601 ktpgqrqlit lqeqvklgiv nvdeavlhfk ewqlnqkkrs esfrfqqenl krlrdsitrr 661 qrekqksgkq tdleitvpir hsqhlpakve fgvyesgprk svipprtelr rgdwktdsts 721 stasstsnrs strsllsvss gmegdnedne vpevtrsrsp gppqvdgtpt mslerpprvp 781 praasqrppt retfhppppv pprgr // LOCUS NP_588609 576 aa linear PRI 04-JUL-2020 DEFINITION RING finger and SPRY domain-containing protein 1 isoform 1 precursor [Homo sapiens]. ACCESSION NP_588609 XP_166279 VERSION NP_588609.1 DBSOURCE REFSEQ: accession NM_133368.3 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 576) AUTHORS Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K and Alikasifoglu M. TITLE Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis JOURNAL Am. J. Med. Genet. A 176 (9), 2009-2016 (2018) PUBMED 30063090 REMARK GeneRIF: we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and craniosynostosis along with recognizable facial features and intellectual disability. REFERENCE 2 (residues 1 to 576) AUTHORS Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I, Maas RL, Boycott K and Alkuraya FS. CONSRTM Care4Rare Canada Consortium TITLE Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations JOURNAL Am. J. Hum. Genet. 97 (4), 608-615 (2015) PUBMED 26365341 REMARK GeneRIF: RSPRY1 Mutations are associated with Progressive Skeletal Dysplasia. REFERENCE 3 (residues 1 to 576) 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 BC013173.2, AC009090.12 and AL834402.1. This sequence is a reference standard in the RefSeqGene project. On Mar 22, 2004 this sequence version replaced XP_166279.1. Summary: This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]. Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 2 and 3 encode the same protein. ##Evidence-Data-START## Transcript exon combination :: BC013173.2, SRR1803617.221354.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000394420.9/ ENSP00000377942.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..576 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16q13" Protein 1..576 /product="RING finger and SPRY domain-containing protein 1 isoform 1 precursor" /note="RING finger and SPRY domain-containing protein 1" /calculated_mol_wt=62444 sig_peptide 1..16 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1754 mat_peptide 17..576 /product="RING finger and SPRY domain-containing protein 1. /id=PRO_0000278786" /note="propagated from UniProtKB/Swiss-Prot (Q96DX4.1)" /calculated_mol_wt=62444 Site 50 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q8BVR6; propagated from UniProtKB/Swiss-Prot (Q96DX4.1)" Site 314 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96DX4.1)" Region 359..479 /region_name="SPRY_RING" /note="SPRY domain at N-terminus of Really Interesting New Gene (RING) finger domain; cd12883" /db_xref="CDD:293941" Region 525..565 /region_name="RING-HC_RSPRY1" /note="RING finger, HC subclass, found in RING finger and SPRY domain-containing protein 1 (RSPRY1) and similar proteins; cd16566" /db_xref="CDD:319480" Region 527..561 /region_name="RING-HC finger (C3HC4-type)" /note="RING-HC finger (C3HC4-type) [structural motif]" /db_xref="CDD:319480" Site order(527,530,542,544,548,551,558,561) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:319480" CDS 1..576 /gene="RSPRY1" /gene_synonym="SEMDFA" /coded_by="NM_133368.3:279..2009" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS10775.1" /db_xref="GeneID:89970" /db_xref="HGNC:HGNC:29420" /db_xref="MIM:616585" ORIGIN 1 mivfgwavfl asrslgqgll ltleehiahf lgtggaattm gnscicrdds gtddsvdtqq 61 qqaensavpt adtrsqprdp vrpprrgrgp heprrkkqnv dglvldtlav irtlvdndqe 121 ppysmitlhe maetdegwld vvqslirvip ledplgpavi tllldecplp tkdalqklte 181 ilnlngevac qdsshpakhr ntsavlgcla eklagpasig llspgileyl lqclklqshp 241 tvmlfalial ekfaqtsenk ltisessisd rlvtleswan dpdylkrqvg fcaqwsldnl 301 flkegrqlty ekvnlssira mlnsndvsey lkisphglea rcdassfesv rctfcvdagv 361 wyyevtvvts gvmqigwatr dskflnhegy gigddeysca ydgcrqliwy narskphihp 421 cwkegdtvgf lldlnekqmi fflngnqlpp ekqvfsstvs gffaaasfms yqqcefnfga 481 kpfkyppsmk fstfndyafl taeekiilpr hrrlallkqv sirenccslc cdevadtqlk 541 pcghsdlcmd calqletcpl crkeivsrir qishis // LOCUS NP_945147 461 aa linear PRI 05-JUL-2020 DEFINITION pyrin and HIN domain-containing protein 1 isoform beta 1 [Homo sapiens]. ACCESSION NP_945147 VERSION NP_945147.1 DBSOURCE REFSEQ: accession NM_198929.5 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 461) 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 2 (residues 1 to 461) 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 3 (residues 1 to 461) 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 4 (residues 1 to 461) 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 5 (residues 1 to 461) 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 6 (residues 1 to 461) 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, AY185346.1, BC073133.1 and AW518129.1. 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 (3) lacks the penultimate exon compared to variant 1. This results in a frame-shift, and a shorter isoform (beta 1) with a distinct C-terminus compared to isoform alpha 1. ##Evidence-Data-START## Transcript exon combination :: BC073133.1, AY185346.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..461 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q23.1" Protein 1..461 /product="pyrin and HIN domain-containing protein 1 isoform beta 1" /note="interferon-inducible protein X; pyrin and HIN domain-containing protein 1" /calculated_mol_wt=51811 Region 10..83 /region_name="Pyrin" /note="Pyrin: a protein-protein interaction domain; cd08305" /db_xref="CDD:260019" Region 212..379 /region_name="HIN" /note="HIN-200/IF120x domain; pfam02760" /db_xref="CDD:280856" CDS 1..461 /gene="PYHIN1" /gene_synonym="IFIX" /coded_by="NM_198929.5:246..1631" /note="isoform beta 1 is encoded by transcript variant 3" /db_xref="CCDS:CCDS30907.1" /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 ftkvtkdkdi k // LOCUS NP_001008777 452 aa linear PRI 05-JUL-2020 DEFINITION F-box only protein 47 [Homo sapiens]. ACCESSION NP_001008777 VERSION NP_001008777.2 DBSOURCE REFSEQ: accession NM_001008777.3 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 452) AUTHORS Hua R, Wei H, Liu C, Zhang Y, Liu S, Guo Y, Cui Y, Zhang X, Guo X, Li W and Liu M. TITLE FBXO47 regulates telomere-inner nuclear envelope integration by stabilizing TRF2 during meiosis JOURNAL Nucleic Acids Res. 47 (22), 11755-11770 (2019) PUBMED 31724724 REMARK GeneRIF: A novel mechanism of FBXO47 in telomeric shelterin subunit stabilization during meiosis. REFERENCE 2 (residues 1 to 452) 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 3 (residues 1 to 452) AUTHORS Simon-Kayser B, Scoul C, Renaudin K, Jezequel P, Bouchot O, Rigaud J and Bezieau S. TITLE Molecular cloning and characterization of FBXO47, a novel gene containing an F-box domain, located in the 17q12 band deleted in papillary renal cell carcinoma JOURNAL Genes Chromosomes Cancer 43 (1), 83-94 (2005) PUBMED 15723337 REMARK GeneRIF: FBXO47 is preferentially expressed in normal tissue relative to the corresponding tumor tissue, particularly in the kidney, liver, and pancreas. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC006441.13, BC140879.1, AY700575.1 and DB340247.1. On Jan 29, 2009 this sequence version replaced NP_001008777.1. ##Evidence-Data-START## Transcript exon combination :: AY700575.1, BC140880.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000378079.3/ ENSP00000367319.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..452 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q12" Protein 1..452 /product="F-box only protein 47" /calculated_mol_wt=51837 CDS 1..452 /gene="FBXO47" /coded_by="NM_001008777.3:202..1560" /db_xref="CCDS:CCDS32639.1" /db_xref="GeneID:494188" /db_xref="HGNC:HGNC:31969" /db_xref="MIM:609498" ORIGIN 1 masrintnft lipnqklrrs nrqtscyskt lgsgfqpist fgnfkalple ifqiilkyls 61 vkdismlsmv sktvsqhiin yistssgskr lllqdfhnle lpdrrqdsai lehyrslgll 121 fkrctlllpt kerlkyihki ltevscfkfn gcaapmqclg ltcygmflqt ltagwdelec 181 hrvynflcel tnlcrkiqma vcskpgsaqk lelrirlfcr nvlldhwthr sdsafwltri 241 lkpwpmvnqa rllyiifgpi spqdgqvvwq emieeptdef slkgladaik llydastkew 301 taddvislvd elsvvprewl lennarllml sgnnicfsfm askavngrti elarlvvfla 361 lvcekelycm dwtvkmmqkv ckvfstpver knflqnvana facvimemlq simsgdrded 421 drsflnlfhl vhaqanfhke vlyltmntpl st // LOCUS NP_001153587 167 aa linear PRI 05-JUL-2020 DEFINITION UPF0235 protein C15orf40 isoform d [Homo sapiens]. ACCESSION NP_001153587 VERSION NP_001153587.1 DBSOURCE REFSEQ: accession NM_001160115.2 KEYWORDS RefSeq. SOURCE Homo 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 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, Trigg 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 167) 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 167) 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 AL602775.1, DW416709.1, BY800475.1, CN347153.1 and AC022558.9. Transcript Variant: This variant (4) differs in the 3' UTR and has multiple differences in the 3' coding region compared to variant 1. This results in a longer isoform (d) with a distinct C-terminus, compared to isoform a. ##Evidence-Data-START## Transcript exon combination :: BY800475.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..167 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q25.2" Protein 1..167 /product="UPF0235 protein C15orf40 isoform d" /note="UPF0235 protein C15orf40" /calculated_mol_wt=17233 Region 65..122 /region_name="DUF167" /note="uncharacterized ACR, YggU family COG1872; pfam02594" /db_xref="CDD:280714" CDS 1..167 /gene="C15orf40" /coded_by="NM_001160115.2:33..536" /note="isoform d is encoded by transcript variant 4" /db_xref="CCDS:CCDS53969.1" /db_xref="GeneID:123207" /db_xref="HGNC:HGNC:28443" ORIGIN 1 mlrlrsglrh lratpntrgs arllcaempk kagattkgks qskeperplp plgpvavdpk 61 gcvtiaihak pgskqnavtd ltaeavnvai aappsegean aelcrylskv lelrksdvvl 121 dktgscyiaq aglellassd lpasasqsag itgvshhtqp alllisl // LOCUS NP_001182010 214 aa linear PRI 05-JUL-2020 DEFINITION claudin-34 [Homo sapiens]. ACCESSION NP_001182010 XP_002343848 XP_002348187 VERSION NP_001182010.1 DBSOURCE REFSEQ: accession NM_001195081.2 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 214) AUTHORS Baltzegar DA, Reading BJ, Brune ES and Borski RJ. TITLE Phylogenetic revision of the claudin gene family JOURNAL Mar Genomics 11, 17-26 (2013) PUBMED 23726886 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC002365.1. On or before Aug 21, 2010 this sequence version replaced XP_002348187.1, XP_002343848.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence because no single transcript was available for the full length of the gene. The genomic coordinates used for the transcript record were based on protein alignments. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000445307.4/ ENSP00000403980.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..214 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xp22.2" Protein 1..214 /product="claudin-34" /calculated_mol_wt=24095 Site 12..32 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (H7C241.2)" Site 81..101 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (H7C241.2)" Site 126..146 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (H7C241.2)" Site 178..198 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (H7C241.2)" CDS 1..214 /gene="CLDN34" /coded_by="NM_001195081.2:1..645" /db_xref="CCDS:CCDS75951.1" /db_xref="GeneID:100288814" /db_xref="HGNC:HGNC:51259" ORIGIN 1 mvwfcnsadc qfsvfaltti gwilsststg lvewriwymk dtslyppgia cvgifrvciy 61 rrrtnstttk fcyrysyqdt flpfeismaq rflltasifg ffgrafnmfa lrnmsmrmfe 121 edtynsfvvs gilniaagvf nliavlqnyd avinsqgitf lpslqmpfkp dvqevgtaiq 181 vagigvlpml ltgmfslfyk cppygqvhpg isem // LOCUS NP_525128 72 aa linear PRI 05-JUL-2020 DEFINITION beta-defensin 104 precursor [Homo sapiens]. ACCESSION NP_525128 XP_933879 VERSION NP_525128.2 DBSOURCE REFSEQ: accession NM_080389.3 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 72) AUTHORS Li X, Duan D, Yang J, Wang P, Han B, Zhao L, Jepsen S, Dommisch H, Winter J and Xu Y. TITLE The expression of human beta-defensins (hBD-1, hBD-2, hBD-3, hBD-4) in gingival epithelia JOURNAL Arch. Oral Biol. 66, 15-21 (2016) PUBMED 26874342 REMARK GeneRIF: Expression of hBD-1, hBD-2, hBD-3, and hBD-4 in healthy and chronic periodontitis gingiva. REFERENCE 2 (residues 1 to 72) AUTHORS Semlali A, Al Amri A, Azzi A, Al Shahrani O, Arafah M, Kohailan M, Aljebreen AM, Alharbi O, Almadi MA, Azzam NA, Parine NR, Rouabhia M and Alanazi MS. TITLE Expression and new exon mutations of the human Beta defensins and their association on colon cancer development JOURNAL PLoS ONE 10 (6), e0126868 (2015) PUBMED 26038828 REMARK GeneRIF: there is a significant link between innate immunity deregulation through disruption of cationic peptides (hBDs) and the potential development of colon cancer. Publication Status: Online-Only REFERENCE 3 (residues 1 to 72) AUTHORS Barrera GJ, Sanchez G and Gonzalez JE. TITLE Trefoil factor 3 isolated from human breast milk downregulates cytokines (IL8 and IL6) and promotes human beta defensin (hBD2 and hBD4) expression in intestinal epithelial cells HT-29 JOURNAL Bosn J Basic Med Sci 12 (4), 256-264 (2012) PUBMED 23198942 REMARK GeneRIF: TFF3 activated the epithelial cells in culture to produce beta defensins 2 (hBD2) and beta defensins 4 REFERENCE 4 (residues 1 to 72) AUTHORS Musumeci G, Carnazza ML, Leonardi R and Loreto C. TITLE Expression of beta-defensin-4 in 'an in vivo and ex vivo model' of human osteoarthritic knee meniscus JOURNAL Knee Surg Sports Traumatol Arthrosc 20 (2), 216-222 (2012) PUBMED 21879330 REMARK GeneRIF: Data suggest an activation of b-defensin-4 induction, in human knee meniscus by the osteoarthritis inflammatory process as a result of an endogenous antibiotic defense mechanism accompanied by an intrinsic effort of tissue remodeling. REFERENCE 5 (residues 1 to 72) AUTHORS Park JJ, Oh BR, Kim JY, Park JA, Kim C, Lee YJ, Song YW, Armour JA and Lee EB. TITLE Copy number variation of beta-defensin genes in Behcet's disease JOURNAL Clin. Exp. Rheumatol. 29 (4 Suppl 67), S20-S23 (2011) PUBMED 21385545 REMARK GeneRIF: Our results suggest that copy number variation of DEFB4 may not contribute to the pathogenesis of Behcet's disease. REFERENCE 6 (residues 1 to 72) AUTHORS Hollox EJ, Armour JA and Barber JC. TITLE Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster JOURNAL Am. J. Hum. Genet. 73 (3), 591-600 (2003) PUBMED 12916016 REFERENCE 7 (residues 1 to 72) AUTHORS Semple CA, Rolfe M and Dorin JR. TITLE Duplication and selection in the evolution of primate beta-defensin genes JOURNAL Genome Biol. 4 (5), R31 (2003) PUBMED 12734011 REFERENCE 8 (residues 1 to 72) AUTHORS Yamaguchi Y, Nagase T, Makita R, Fukuhara S, Tomita T, Tominaga T, Kurihara H and Ouchi Y. TITLE Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice JOURNAL J. Immunol. 169 (5), 2516-2523 (2002) PUBMED 12193721 REFERENCE 9 (residues 1 to 72) 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 10 (residues 1 to 72) AUTHORS Garcia JR, Krause A, Schulz S, Rodriguez-Jimenez FJ, Kluver E, Adermann K, Forssmann U, Frimpong-Boateng A, Bals R and Forssmann WG. TITLE Human beta-defensin 4: a novel inducible peptide with a specific salt-sensitive spectrum of antimicrobial activity JOURNAL FASEB J. 15 (10), 1819-1821 (2001) PUBMED 11481241 REMARK GeneRIF: Beta-defensin 104 displays antimicrobial activity against S. carnosus, E. coli, S. cerevisiae, and P. aeruginosa (strong). COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC084121.13 and BC100851.1. This sequence is a reference standard in the RefSeqGene project. On or before May 31, 2006 this sequence version replaced XP_933879.1, NP_525128.1. Summary: Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. [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## RNAseq introns :: single sample supports all introns SAMN03267772 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000314265.3/ ENSP00000320813.2 Protein has antimicrobial activity :: PMID: 11481241 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..72 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="8" /map="8p23.1" Protein 1..72 /product="beta-defensin 104 precursor" /note="defensin, beta 4; beta-defensin 104" /calculated_mol_wt=5989 sig_peptide 1..22 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2555 mat_peptide 23..72 /product="beta-defensin 104" /experiment="DESCRIPTION:antimicrobial peptide[PMID: 11481241]" /calculated_mol_wt=5989 Region 29..58 /region_name="Defensin_beta_2" /note="Beta defensin; pfam13841" /db_xref="CDD:316366" CDS 1..72 /gene="DEFB104A" /gene_synonym="BD-4; DEFB-4; DEFB104; DEFB4; hBD-4" /coded_by="NM_080389.3:50..268" /db_xref="CCDS:CCDS34834.1" /db_xref="GeneID:140596" /db_xref="HGNC:HGNC:18115" ORIGIN 1 mqrlvlllai slllyqdlpv rsefeldric gygtarcrkk crsqeyrigr cpntyacclr 61 kwdesllnrt kp // LOCUS NP_671731 89 aa linear PRI 05-JUL-2020 DEFINITION protein WFDC9 precursor [Homo sapiens]. ACCESSION NP_671731 VERSION NP_671731.1 DBSOURCE REFSEQ: accession NM_147198.4 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 89) 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 89) 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 3 (residues 1 to 89) 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 4 (residues 1 to 89) 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 AL031671.12, AY047610.1 and AW269752.1. Summary: The WAP-type four-disulfide core (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 in many members of the WFDC domain family. This gene encodes a protein which contains a WFDC domain, and is thus a member of the WFDC domain family. This gene and several other gene family members are clustered at 20q13.12. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AY047610.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2161674 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000326000.2/ ENSP00000320532.1 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="20" /map="20q13.12" Protein 1..89 /product="protein WFDC9 precursor" /note="protein WFDC9" /calculated_mol_wt=7953 sig_peptide 1..23 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NEX5.1)" /calculated_mol_wt=2570 mat_peptide 24..89 /product="Protein WFDC9. /id=PRO_0000041385" /note="propagated from UniProtKB/Swiss-Prot (Q8NEX5.1)" /calculated_mol_wt=7953 CDS 1..89 /gene="WFDC9" /gene_synonym="dJ688G8.2; WAP9" /coded_by="NM_147198.4:235..504" /db_xref="CCDS:CCDS13362.1" /db_xref="GeneID:259240" /db_xref="HGNC:HGNC:20380" ORIGIN 1 mkpwilllvm fisgvvmllp vlgsfwnkdp fldmireteq cwvqppykyc ekrctkimtc 61 vrpnhtccwt ycgnicldne eplksmlnp // LOCUS NP_612459 196 aa linear PRI 05-JUL-2020 DEFINITION ADP-ribosylation factor-like protein 11 [Homo sapiens]. ACCESSION NP_612459 VERSION NP_612459.1 DBSOURCE REFSEQ: accession NM_138450.6 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 196) 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 196) AUTHORS Hamadou WS, Besbes S, Mani R, Bourdon V, Ben Youssef Y, Achour B, Regaieg H, Eisinger F, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Noguchi T, Khelif A, Sobol H and Soua Z. TITLE ARLTS1, potential candidate gene in familial aggregation of hematological malignancies JOURNAL Bull Cancer 104 (2), 123-127 (2017) PUBMED 27866680 REMARK GeneRIF: ARLTS1 gene mutations can be considered as a potential predisposing factor in familial hematological malignancies REFERENCE 3 (residues 1 to 196) AUTHORS Siltanen S, Fischer D, Rantapero T, Laitinen V, Mpindi JP, Kallioniemi O, Wahlfors T and Schleutker J. TITLE ARLTS1 and prostate cancer risk--analysis of expression and regulation JOURNAL PLoS ONE 8 (8), e72040 (2013) PUBMED 23940804 REMARK GeneRIF: A statistically significant (p = 0.0037) decrease of ARLTS1 expression in prostate cancer cases was detected. Publication Status: Online-Only REFERENCE 4 (residues 1 to 196) AUTHORS Gourraud PA, Sdika M, Khankhanian P, Henry RG, Beheshtian A, Matthews PM, Hauser SL, Oksenberg JR, Pelletier D and Baranzini SE. TITLE A genome-wide association study of brain lesion distribution in multiple sclerosis JOURNAL Brain 136 (Pt 4), 1012-1024 (2013) PUBMED 23412934 REFERENCE 5 (residues 1 to 196) AUTHORS Yendamuri S, Trapasso F and Calin GA. TITLE ARLTS1 - a novel tumor suppressor gene JOURNAL Cancer Lett. 264 (1), 11-20 (2008) PUBMED 18375053 REMARK GeneRIF: A novel tumor suppressor gene [ARLTS1 (ADP-ribosylation factor-like tumor suppressor gene 1)]is found to be altered in human carcinogenesis. It is located in Chromosome 13q14.3. Review article REFERENCE 6 (residues 1 to 196) AUTHORS Frank B, Hemminki K, Brenner H, Hoffmeister M, Chang-Claude J and Burwinkel B. TITLE ARLTS1 variants and risk of colorectal cancer JOURNAL Cancer Lett. 244 (2), 172-175 (2006) PUBMED 16488076 REMARK GeneRIF: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) REFERENCE 7 (residues 1 to 196) AUTHORS Sellick GS, Catovsky D and Houlston RS. TITLE Relationship between ARLTS1 polymorphisms and risk of chronic lymphocytic leukemia JOURNAL Leuk. Res. 30 (12), 1573-1576 (2006) PUBMED 16581122 REMARK GeneRIF: The study does not support the postulate that variants of ARLTS1 influence the risk of chronic lymphocytic leukemia(CLL). GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 8 (residues 1 to 196) AUTHORS Masojc B, Mierzejewski M, Cybulski C, van de Wetering T, Debniak T, Gorski B, Jaworowska E, Tarnowska C, Lenner M, Scott RJ and Lubinski J. TITLE Cancer Familial Aggregation (CFA) and G446A polymorphism in ARLTS1 gene JOURNAL Breast Cancer Res. Treat. 99 (1), 59-62 (2006) PUBMED 16570116 REMARK GeneRIF: the G446A in ARLTS1 gene is probably not associated with an increased risk of sporadic breast cancer, prostate cancer, melanoma, thyroid papillary cancer or laryngeal cancer GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 9 (residues 1 to 196) AUTHORS Frank B, Hemminki K, Meindl A, Wappenschmidt B, Klaes R, Schmutzler RK, Untch M, Bugert P, Bartram CR and Burwinkel B. TITLE Association of the ARLTS1 Cys148Arg variant with familial breast cancer risk JOURNAL Int. J. Cancer 118 (10), 2505-2508 (2006) PUBMED 16353159 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 10 (residues 1 to 196) AUTHORS Calin GA, Trapasso F, Shimizu M, Dumitru CD, Yendamuri S, Godwin AK, Ferracin M, Bernardi G, Chatterjee D, Baldassarre G, Rattan S, Alder H, Mabuchi H, Shiraishi T, Hansen LL, Overgaard J, Herlea V, Mauro FR, Dighiero G, Movsas B, Rassenti L, Kipps T, Baffa R, Fusco A, Mori M, Russo G, Liu CG, Neuberg D, Bullrich F, Negrini M and Croce CM. TITLE Familial cancer associated with a polymorphism in ARLTS1 JOURNAL N. Engl. J. Med. 352 (16), 1667-1676 (2005) PUBMED 15843669 REMARK GeneRIF: A genetic variant of ARLTS1 predisposes patients to familial cancer. 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 AF441378.1 and AK091249.1. This sequence is a reference standard in the RefSeqGene project. Summary: This gene encodes a tumor suppressor related to the ADP-ribosylation factor (ARF) family of proteins. The encoded protein may play a role in apoptosis in a caspase-dependent manner. Polymorphisms in this gene have been associated with some familial cancers. [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## Transcript exon combination :: AF441378.1, SRR1660805.72979.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000282026.2/ ENSP00000282026.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..196 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="13" /map="13q14.2" Protein 1..196 /product="ADP-ribosylation factor-like protein 11" /note="ADP-ribosylation factor-like tumor suppressor protein 1; ADP-ribosylation factor-like 11; ADP-ribosylation factor-like tumor suppressor gene 1" /calculated_mol_wt=21259 Region 14..172 /region_name="ARLTS1" /note="Arf-like tumor suppressor gene 1 (ARLTS1 or Arl11); cd04156" /db_xref="CDD:133356" Site 19..26 /site_type="other" /note="G1 box" /db_xref="CDD:133356" Site order(21..27,42..43,66,122..123,125,155..157) /site_type="other" /note="GTP/Mg2+ binding site [chemical binding]" /db_xref="CDD:133356" Site order(21..22,26,30,42..49,72,77) /site_type="other" /note="putative GAP interaction site [polypeptide binding]" /db_xref="CDD:133356" Site 31..46 /site_type="other" /note="Switch I region" /db_xref="CDD:133356" Site order(43..47,52,63,67,73,75..77) /site_type="other" /note="putative GEF interaction site [polypeptide binding]" /db_xref="CDD:133356" Site 43 /site_type="other" /note="G2 box" /db_xref="CDD:133356" Site order(44..51,62,73,76..77) /site_type="other" /note="putative effector interaction site" /db_xref="CDD:133356" Site 47..62 /site_type="other" /note="interswitch region" /db_xref="CDD:133356" Site 63..80 /site_type="other" /note="Switch II region" /db_xref="CDD:133356" Site 63..66 /site_type="other" /note="G3 box" /db_xref="CDD:133356" Site 122..125 /site_type="other" /note="G4 box" /db_xref="CDD:133356" Site 155..157 /site_type="other" /note="G5 box" /db_xref="CDD:133356" CDS 1..196 /gene="ARL11" /gene_synonym="ARLTS1" /coded_by="NM_138450.6:128..718" /db_xref="CCDS:CCDS9419.1" /db_xref="GeneID:115761" /db_xref="HGNC:HGNC:24046" /db_xref="MIM:609351" ORIGIN 1 mgsvnsrghk aeaqvvmmgl dsagkttlly klkghqlvet lptvgfnvep lkapghvslt 61 lwdvggqapl raswkdyleg tdilvyvlds tdearlpesa aeltevlndp nmagvpflvl 121 ankqeapdal pllkirnrls lerfqdhcwe lrgcsaltge glpealqslw sllksrscmc 181 lqarahgaer gdskrs // LOCUS NP_036500 312 aa linear PRI 05-JUL-2020 DEFINITION olfactory receptor 2C1 [Homo sapiens]. ACCESSION NP_036500 VERSION NP_036500.2 DBSOURCE REFSEQ: accession NM_012368.3 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 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 Centola M, Chen X, Sood R, Deng Z, Aksentijevich I, Blake T, Ricke DO, Chen X, Wood G, Zaks N, Richards N, Krizman D, Mansfield E, Apostolou S, Liu J, Shafran N, Vedula A, Hamon M, Cercek A, Kahan T, Gumucio D, Callen DF, Richards RI, Moyzis RK, Doggett NA, Collins FS, Liu PP, Fischel-Ghodsian N and Kastner DL. TITLE Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3 JOURNAL Genome Res. 8 (11), 1172-1191 (1998) PUBMED 9847080 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC126269.1, BC069158.1 and AC025283.6. On Nov 29, 2006 this sequence version replaced NP_036500.1. 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 :: BC130328.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000304936.4/ ENSP00000307726.2 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="16" /map="16p13.3" Protein 1..312 /product="olfactory receptor 2C1" /note="olfactory receptor, family 2, subfamily C, member 2 pseudogene; olfactory receptor OR16-1; olfactory receptor OR16-2; olfactory receptor 2C2" /calculated_mol_wt=34281 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O95371.3)" Site 26..49 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O95371.3)" Region 33..305 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 41..290 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 58..79 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O95371.3)" Site 101..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O95371.3)" Site 140..158 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O95371.3)" Site 197..219 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O95371.3)" Site 237..259 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O95371.3)" Site 273..292 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O95371.3)" CDS 1..312 /gene="OR2C1" /gene_synonym="OLFmf3; OR2C2P" /coded_by="NM_012368.3:53..991" /db_xref="CCDS:CCDS10502.1" /db_xref="GeneID:4993" /db_xref="HGNC:HGNC:8242" ORIGIN 1 mdgvndsslq gfvlmgisdh pqlemiffia ilfsylltll gnstiillsr learlhtpmy 61 fflsnlssld lafatssvpq mlinlwgpgk tisyggcitq lyvflwlgat ecillvvmaf 121 dryvavcrpl rytaimnpql cwllaviacl gglgnsviqs tftlqlplcg hrrvegflce 181 vpamiklacg dtslnqavln gvctfftavp lsiivisycl iaqavlkirs aegrrkafnt 241 clshllvvfl fygsasygyl lpaknskqdq gkfislfysl vtpmvnpliy tlrnmevkga 301 lrrllgkgre vg // LOCUS NP_001136272 3144 aa linear PRI 05-JUL-2020 DEFINITION protein eyes shut homolog isoform 1 precursor [Homo sapiens]. ACCESSION NP_001136272 VERSION NP_001136272.1 DBSOURCE REFSEQ: accession NM_001142800.2 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 3144) AUTHORS Iwanami M, Oishi A, Ogino K, Seko Y, Nishida-Shimizu T, Yoshimura N and Kato S. TITLE Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa JOURNAL Mol. Vis. 25, 766-779 (2019) PUBMED 31814702 REMARK GeneRIF: This is the first report showing the pathogenicity of three missense variants (p.(Gly843Glu), p.(Gly2186Glu), and p.(Ile2188Thr)) and the presence of copy number variations in the EYS gene. Publication Status: Online-Only REFERENCE 2 (residues 1 to 3144) AUTHORS Ji D, Xing W, Li F, Huang Z, Zheng W, Hu B, Niu F, Zhu Y and Yang X. TITLE Correlation of EYS polymorphisms with lumbar disc herniation risk among Han Chinese population JOURNAL Mol Genet Genomic Med 7 (9), e890 (2019) PUBMED 31359629 REMARK GeneRIF: These results suggest that EYS polymorphism may be associated with lumbar disc herniation among Han Chinese population. It also opens up a new exploration direction for the etiology of lumbar disc herniation. REFERENCE 3 (residues 1 to 3144) AUTHORS Pierrache LHM, Messchaert M, Thiadens AAHJ, Haer-Wigman L, de Jong-Hesse Y, van Zelst-Stams WAG, Collin RWJ, Klaver CCW and van den Born LI. TITLE Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy JOURNAL Invest. Ophthalmol. Vis. Sci. 60 (6), 2049-2063 (2019) PUBMED 31074760 REMARK GeneRIF: Identical EYS variants were found in cases with RP, CRD, and macular dystrophy. Screening for EYS variants in CRD and macular dystrophy patients might increase the diagnostic yield in previously unsolved cases REFERENCE 4 (residues 1 to 3144) AUTHORS Xiao X, Cao Y, Chen S, Chen M, Mai X, Zheng Y, Zhuang X, Ng TK and Chen H. TITLE Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa JOURNAL Mol. Vis. 25, 35-46 (2019) PUBMED 30804660 REMARK GeneRIF: The study identified eight novel EYS variants and expanded the spectrum of EYS mutations in Chinese retinitis pigmentosa patients. Publication Status: Online-Only REFERENCE 5 (residues 1 to 3144) AUTHORS Collin RW, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EA, Strom TM, Hoyng CB, den Hollander AI and Cremers FP. TITLE Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa JOURNAL Am. J. Hum. Genet. 83 (5), 594-603 (2008) PUBMED 18976725 REMARK GeneRIF: EYS is identified as a human ortholog of Drosopbhila eys, which is mutated in patients with retinitis pigmentosa. REFERENCE 6 (residues 1 to 3144) AUTHORS Barragan I, Abd El-Aziz MM, Borrego S, El-Ashry MF, O'Driscoll C, Bhattacharya SS and Antinolo G. TITLE Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families JOURNAL Ann. Hum. Genet. 72 (Pt 4), 454-462 (2008) PUBMED 18510647 REMARK GeneRIF: In order to validate the original linkage of RP25, study undertook a total genome scan using the 10K GeneChip mapping array on 3 of the previously linked families; data obtained supported the initial findings of linkage. REFERENCE 7 (residues 1 to 3144) AUTHORS Abd El-Aziz MM, Barragan I, O'Driscoll C, Borrego S, Abu-Safieh L, Pieras JI, El-Ashry MF, Prigmore E, Carter N, Antinolo G and Bhattacharya SS. TITLE Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval JOURNAL Ann. Hum. Genet. 72 (Pt 4), 463-477 (2008) PUBMED 18510646 REMARK GeneRIF: To study if copy number variation exists within RP25, comparative genomic hybridization analysis on a consanguineous family revealed a clone, chr6tp-19C7, spanning 100-Kb was deleted in all affected members of the family. Erratum:[Ann Hum Genet. 2015 Jan;79(1):83] REFERENCE 8 (residues 1 to 3144) AUTHORS Khaliq,S., Hameed,A., Ismail,M., Mehdi,S.Q., Bessant,D.A., Payne,A.M. and Bhattacharya,S.S. TITLE Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin JOURNAL Am. J. Hum. Genet. 65 (2), 571-574 (1999) PUBMED 10417302 REFERENCE 9 (residues 1 to 3144) AUTHORS Ruiz A, Borrego S, Marcos I and Antinolo G. TITLE A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters JOURNAL Am. J. Hum. Genet. 62 (6), 1452-1459 (1998) PUBMED 9585594 REFERENCE 10 (residues 1 to 3144) AUTHORS Fahim,A.T., Daiger,S.P. and Weleber,R.G. TITLE Nonsyndromic Retinitis Pigmentosa Overview JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K 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 AL450319.4, FJ416331.1 and BX537914.1. This sequence is a reference standard in the RefSeqGene project. Summary: The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. 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## RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA1970526 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000503581.6/ ENSP00000424243.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..3144 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6q12" Protein 1..3144 /product="protein eyes shut homolog isoform 1 precursor" /note="EGF-like-domain, multiple 11; EGF-like-domain, multiple 10; protein spacemaker homolog; epidermal growth factor-like protein 10; epidermal growth factor-like protein 11" /calculated_mol_wt=346079 sig_peptide 1..21 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" /calculated_mol_wt=2340 Site 166 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Region 195..>283 /region_name="Plasmod_Pvs28" /note="Plasmodium ookinete surface protein Pvs28; pfam06247" /db_xref="CDD:283826" Site 269 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 272 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 311 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 343 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 506 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 566 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Region 681..731 /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(681,684,698) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238011" Region 733..769 /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(733,736,750) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238011" Region 773..806 /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 810..846 /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 890..926 /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(890,893,907) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238011" Region 929..964 /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 966..1002 /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(966,969,983) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238011" Region 1004..1040 /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(1004,1007,1021) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238011" Region 1080..1115 /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 1118..1159 /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 1161..1197 /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(1161,1164,1178) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238011" Region 1886..2044 /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 2149..2315 /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" Site 2170 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Region 2461..2582 /region_name="Laminin_G_2" /note="Laminin G domain; pfam02210" /db_xref="CDD:280389" Region 2657..2689 /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 2719..2856 /region_name="LamG" /note="Laminin G domain; smart00282" /db_xref="CDD:214598" Region 2986..3117 /region_name="Laminin_G_2" /note="Laminin G domain; pfam02210" /db_xref="CDD:280389" CDS 1..3144 /gene="EYS" /gene_synonym="bA166P24.2; bA307F22.3; bA74E24.1; C6orf178; C6orf179; C6orf180; dJ1018A4.2; dJ22I17.2; dJ303F19.1; EGFL10; EGFL11; RP25; SPAM" /coded_by="NM_001142800.2:540..9974" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS47445.1" /db_xref="GeneID:346007" /db_xref="HGNC:HGNC:21555" /db_xref="MIM:612424" ORIGIN 1 mtdksivils lmvfhssfin gktcrrqlve ewhpqpssyv vnwtltenic ldfyrdcwfl 61 gvntkidtsg nqavpqicpl qiqlgdilvi ssepslqfpe inlmnvsets fvgcvqnttt 121 edqllfgcrl kgmhtvnskw lsvgthyfit vmasgpspcp lglrlnvtvk qqfcqeslss 181 efcsghgkcl seawsktysc hcqppfsgky cqeldacsfk pcknngscin krenwdeqay 241 ecvchppftg kncseiigqc qphvcfhgnc snitsnsfic ecdeqfsgpf cevsakpcvs 301 llfwkrgicp nsssaytyec pkgsssqnge tdvsefslvp cqngtdciki sndvmcicsp 361 iftdllcksi qtscesfplr nnatckkcek dypcscisgf tekncekaid hckllsincl 421 neewcfniig rfkyvcipgc tknpcwflkn vylihqhlcy cgvtfhgicq dkgpaqfeyv 481 wqlgfagseg ekcqgviday fflaancted atyvndpedn nsscwfpheg tkeicangcs 541 clseedsqey rylcflrwag nmylenttdd qenecqheav ckdeinrprc scslsyigrl 601 cvvnvdyclg nhsisvhglc lalshncncs glqryernic eidtedcksa sckngttsth 661 lrgyffrkcv pgfkgtqcei didecashpc kngatcidqp gnyfcqcvpp fkvvdgfscl 721 cnpgyvgirc eqdiddciln acehnstckd lhlsyqcvcl sdwegnfceq esneckmnpc 781 knnstctdly ksyrcectsg wtgqncseei necdsdpcmn gglchestip gqfvclcppl 841 ytgqfchqry nlcdllhnpc rnnstclalv danqhcicre efegknceid vkdclflscq 901 dygdcedmvn nfrcicrpgf sgslceiein ecssepcknn gtcvdltnrf fcncepeyhg 961 pfceldvnkc kispcldeen cvyrtdgync lcapgytgin ceinldecls epclhdgvci 1021 dginhytcdc ksgffgthce tnandclsnp clhgrcteli neypcscdad gtstqckiki 1081 ndctsipcmn egfcqksahg ftcicprgyt gayceksidn caepelnsvi clnggicvdg 1141 pghtfdcrcl pgfsgqfcei ninecssspc lhgadcedhi ngyvckcqpg wsghhcenel 1201 ecipnscvhe lcmenepgst clctpgfmtc sigllcgdei rritcltpif qrtdpistqt 1261 ytippsetlv ssfpsikatr ipaimdtypv dqgpkqtgiv khdilpttgl atlristple 1321 syllqelivt relsakhsll ssadvsssrf lnfgirdpaq ivqdktsvsh mpirtsaatl 1381 gfffpdrrar tpfimsslms dfifptqsll fencqtvals atpttsvirs ipgadielnr 1441 qsllsrgfll iaasisatpv vsrgaqedie eysadslisr rehwrllsps mspifpakvi 1501 iskqvtilns salhrfstka fnpseyqait eassnqrltn iksqaadslr elsqtcatcs 1561 mteikssref sdqvlhskqs hfyetfwmns ailaswyalm gaqtitsghs fssateitps 1621 vaftevpslf pskksakrti lsssleesit lssnldvnlc ldktclsivp sqtissdlmn 1681 sdltskmttd elsvsenilk llkirqygit mgptevlnqe slldmekskg shtlfklhps 1741 dssldfelnl qiypdvtlkt yseithandf knnlppltgs vpdfsevttn vafytvsatp 1801 alsiqtsssm svirpdwpyf tdymtslkke vktssewskw elqpsvqyqe fptasrhlpf 1861 trsltlssle silapqrlmi sdfscvryyg dsylefqnva lnpqnnisle fqtfssygll 1921 lyvkqdsnlv dgffiqlfie ngtlkyhfyc pgeakfksin ttvrvdngqk ytllirqeld 1981 pcnaeltilg rntqicesin hvlgkplpks gsvfiggfpd lhgkiqmpvp vknftgciev 2041 ieinnwrsfi pskavknyhi nncrsqgfml sptasfvdas dvtqgvdtmw tsvspsvaap 2101 svcqqdvchn ggtchaifls sgivsfqcdc plhftgrfce kdaglffpsf ngnsylelpf 2161 lkfvlekehn rtvtiyltik tnslngtily sngnncgkqf lhlflvegrp svkygcgnsq 2221 niltvsanys intnaftpit iryttpvgsp gvvcmiemta dgkppvqkkd teishasqay 2281 fesmflghip anvqihkkag pvygfrgcil dlqvnnkeff iidearhgkn ienchvpwca 2341 hhlcrnngtc isdnenlfce cprlysgklc qfascennpc gngatcvpks gtdivclcpy 2401 grsgplctda initqprfsg tdafgytsfl aysrisdisf hyefhlkfql annhsalqnn 2461 lifftgqkgh glngddflav gllngsvvys ynlgsgiasi rseplnlslg vhtvhlgkff 2521 qegwlkvddh knksiiapgr lvglnvfsqf yvggyseytp dllpngadfk ngfqgciftl 2581 qvrtekdghf rglgnpeghp nagrsvgqch aspcslmkcg nggtciesgt svycncttgw 2641 kgsfctetvs tcdpehdpph hcsrgatcis lphgytcfcp lgttgiyceq alsisdpsfr 2701 snelswmsfa sfhvrkkthi qlqfqplaad gilfyaaqhl kaqsgdflci slvnssvqlr 2761 ynlgdrtiil etlqkvting stwhiikagr vgaegyldld ginvtekast kmssldtntd 2821 fyiggvssln lvnpmaiene pvgfqgcirq viinnqelql tefgakggsn vgdcdgtacg 2881 yntcrnggec tvngttfscr clpdwagntc nqsvsclnnl clhqslcipd qsfsysclct 2941 lgwvgrycen ktsfstakfm gnsyikyidp nyrmrnlqft tislnfsttk teglivwmgi 3001 aqneendfla iglhnqtlki avnlgerisv pmsynngtfc cnkwhhvvvi qnqtlikayi 3061 nnslilsedi dphknfvaln ydgicylggf eygrkvnivt qeifktnfvg kikdvvffqe 3121 pknielikle gynvydgdeq nevt // LOCUS NP_149059 426 aa linear PRI 05-JUL-2020 DEFINITION testicular acid phosphatase precursor [Homo sapiens]. ACCESSION NP_149059 VERSION NP_149059.1 DBSOURCE REFSEQ: accession NM_033068.3 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 Smith CE, Whitehouse LL, Poulter JA, Brookes SJ, Day PF, Soldani F, Kirkham J, Inglehearn CF and Mighell AJ. TITLE Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta JOURNAL Eur. J. Hum. Genet. 25 (8), 1015-1019 (2017) PUBMED 28513613 REMARK GeneRIF: ACPT missense mutation segregates with hypoplastic amelogenesis imperfecta in two unrelated families. REFERENCE 2 (residues 1 to 426) AUTHORS Seymen F, Kim YJ, Lee YJ, Kang J, Kim TH, Choi H, Koruyucu M, Kasimoglu Y, Tuna EB, Gencay K, Shin TJ, Hyun HK, Kim YJ, Lee SH, Lee ZH, Zhang H, Hu JC, Simmer JP, Cho ES and Kim JW. TITLE Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta JOURNAL Am. J. Hum. Genet. 99 (5), 1199-1205 (2016) PUBMED 27843125 REMARK GeneRIF: ACPT biallelic mutations caused non-syndromic, generalized hypoplastic autosomal-recessive amelogenesis imperfecta in individuals from six unrelated Turkish families. Analysis of the ACPT crystal structure suggests that these mutations damaged the activity of ACPT by altering the sizes and charges of key amino acid side chains, limiting accessibility of the catalytic core, and interfering with homodimerization. REFERENCE 3 (residues 1 to 426) AUTHORS Fleisig H, El-Din El-Husseini A and Vincent SR. TITLE Regulation of ErbB4 phosphorylation and cleavage by a novel histidine acid phosphatase JOURNAL Neuroscience 127 (1), 91-100 (2004) PUBMED 15219672 REFERENCE 4 (residues 1 to 426) AUTHORS Yousef GM, Diamandis M, Jung K and Diamandis EP. TITLE Molecular cloning of a novel human acid phosphatase gene (ACPT) that is highly expressed in the testis JOURNAL Genomics 74 (3), 385-395 (2001) PUBMED 11414767 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC010325.7. This sequence is a reference standard in the RefSeqGene project. Summary: Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000270593.2/ ENSP00000270593.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..426 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.33" Protein 1..426 /product="testicular acid phosphatase precursor" /EC_number="3.1.3.2" /note="testicular acid phosphatase; acid phosphatase, testicular" /calculated_mol_wt=43174 sig_peptide 1..28 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2934 mat_peptide 29..426 /product="testicular acid phosphatase" /calculated_mol_wt=43174 Region 32..316 /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(40..41,44,111,288..289) /site_type="active" /note="catalytic core [active]" /db_xref="CDD:132717" Site 191 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZG2.1)" Site 269 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZG2.1)" Site 330 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZG2.1)" Site 339 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZG2.1)" Site 394..414 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9BZG2.1)" CDS 1..426 /gene="ACP4" /gene_synonym="ACPT; AI1J" /coded_by="NM_033068.3:1..1281" /db_xref="CCDS:CCDS12802.1" /db_xref="GeneID:93650" /db_xref="HGNC:HGNC:14376" /db_xref="MIM:606362" ORIGIN 1 maglgfwghp agplllllll vlppralpeg plvfvalvfr hgdraplasy pmdphkevas 61 tlwprglgql ttegvrqqle lgrflrsrye aflspeyrre evyirstdfd rtlesaqanl 121 aglfpeaapg spearwrpip vhtvpvaedk llrfpmrscp ryhellreat eaaeyqeale 181 gwtgflsrle nftglslvge plrrawkvld tlmcqqahgl plpawaspdv lrtlaqisal 241 digahvgppr aaekaqltgg illnailanf srvqrlglpl kmvmysahds tllalqgalg 301 lydghtppya aclgfefrkh lgnpakdggn vtvslfyrnd sahlplplsl pgcpapcplg 361 rfyqltapar ppahgvschg pyeaaippap vvpllagava vlvalslglg llawrpgclr 421 alggpv // LOCUS NP_002999 582 aa linear PRI 05-JUL-2020 DEFINITION semenogelin-2 precursor [Homo sapiens]. ACCESSION NP_002999 VERSION NP_002999.1 DBSOURCE REFSEQ: accession NM_003008.3 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 582) AUTHORS Roan NR, Muller JA, Liu H, Chu S, Arnold F, Sturzel CM, Walther P, Dong M, Witkowska HE, Kirchhoff F, Munch J and Greene WC. TITLE Peptides released by physiological cleavage of semen coagulum proteins form amyloids that enhance HIV infection JOURNAL Cell Host Microbe 10 (6), 541-550 (2011) PUBMED 22177559 REMARK GeneRIF: Peptides released by physiological cleavage of Semg1 and Semg2 form amyloids that enhance HIV infection. REFERENCE 2 (residues 1 to 582) 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 582) AUTHORS Canacci AM, Izumi K, Zheng Y, Gordetsky J, Yao JL and Miyamoto H. TITLE Expression of semenogelins I and II and its prognostic significance in human prostate cancer JOURNAL Prostate 71 (10), 1108-1114 (2011) PUBMED 21557275 REMARK GeneRIF: These results suggest the involvement of semenogelins in prostate cancer and their prognostic values in predicting cancer progression after radical prostatectomy. REFERENCE 4 (residues 1 to 582) AUTHORS Yoshida K, Krasznai ZT, Krasznai Z, Yoshiike M, Kawano N, Yoshida M, Morisawa M, Toth Z, Bazsane ZK, Marian T and Iwamoto T. TITLE Functional implications of membrane modification with semenogelins for inhibition of sperm motility in humans JOURNAL Cell Motil. Cytoskeleton 66 (2), 99-108 (2009) PUBMED 19089943 REMARK GeneRIF: Semenogelins (Sgs) modifies the membrane structure, indirectly inhibiting motility, and provides suggestions for a therapy for male infertility through selection of a functional sperm population using Sgs. REFERENCE 5 (residues 1 to 582) AUTHORS Edstrom AM, Malm J, Frohm B, Martellini JA, Giwercman A, Morgelin M, Cole AM and Sorensen OE. TITLE The major bactericidal activity of human seminal plasma is zinc-dependent and derived from fragmentation of the semenogelins JOURNAL J. Immunol. 181 (5), 3413-3421 (2008) PUBMED 18714013 REMARK GeneRIF: antibacterial activity of the semenogelin-derived peptides generated in seminal plasma was strictly zinc-dependent both at neutral and low pH REFERENCE 6 (residues 1 to 582) AUTHORS Emami N, Deperthes D, Malm J and Diamandis EP. TITLE Major role of human KLK14 in seminal clot liquefaction JOURNAL J. Biol. Chem. 283 (28), 19561-19569 (2008) PUBMED 18482984 REMARK GeneRIF: semenogelins I and II were directly cleaved by KLK14. Semenogelins were also able to reverse KLK14 inhibition by Zn2+, providing a novel regulatory mechanism for KLK14 activity. REFERENCE 7 (residues 1 to 582) AUTHORS Lundwall A. TITLE The structure of the semenogelin gene locus--nucleotide sequence of the intergenic and the flanking DNA JOURNAL Eur. J. Biochem. 235 (3), 466-470 (1996) PUBMED 8654389 REFERENCE 8 (residues 1 to 582) AUTHORS Ulvsback M, Lazure C, Lilja H, Spurr NK, Rao VV, Loffler C, Hansmann I and Lundwall A. TITLE Gene structure of semenogelin I and II. The predominant proteins in human semen are encoded by two homologous genes on chromosome 20 JOURNAL J. Biol. Chem. 267 (25), 18080-18084 (1992) PUBMED 1517240 REFERENCE 9 (residues 1 to 582) AUTHORS Lilja H and Lundwall A. TITLE Molecular cloning of epididymal and seminal vesicular transcripts encoding a semenogelin-related protein JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89 (10), 4559-4563 (1992) PUBMED 1584792 REFERENCE 10 (residues 1 to 582) AUTHORS Schneider K, Kausler W, Tripier D, Jouvenal K and Spiteller G. TITLE [Isolation and structure determination of two peptides occurring in human seminal plasma] JOURNAL Biol. Chem. Hoppe-Seyler 370 (4), 353-356 (1989) PUBMED 2757795 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL049767.12. Summary: The secreted protein encoded by this gene is involved in the formation of a gel matrix that encases ejaculated spermatozoa. Proteolysis by the prostate-specific antigen (PSA) breaks down the gel matrix and allows the spermatozoa to move more freely. The encoded protein is found in lesser abundance than a similar semenogelin protein. An antibacterial activity has been found for a antimicrobial peptide isolated from this protein. The genes encoding these two semenogelin proteins are found in a cluster on chromosome 20. [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 :: BC070306.1, M81652.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03465411 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000372769.4/ ENSP00000361855.3 Protein has antimicrobial activity :: PMID: 18714013 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..582 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20q13.12" Protein 1..582 /product="semenogelin-2 precursor" /note="semenogelin II" /calculated_mol_wt=62931 sig_peptide 1..23 /calculated_mol_wt=2531 Region 16..582 /region_name="Semenogelin" /note="Semenogelin; pfam05474" /db_xref="CDD:283196" mat_peptide 24..582 /product="semenogelin-2" /calculated_mol_wt=62931 Region 70..559 /region_name="Repeat-rich region" /note="propagated from UniProtKB/Swiss-Prot (Q02383.1)" mat_peptide 110..138 /product="semenogelin-2" /experiment="DESCRIPTION:antimicrobial peptide[PMID: 18714013]" /calculated_mol_wt=3310 Region 261..500 /region_name="4 X 60 AA tandem repeats, type I" /note="propagated from UniProtKB/Swiss-Prot (Q02383.1)" Site 272 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000305|PubMed:8665956; propagated from UniProtKB/Swiss-Prot (Q02383.1)" CDS 1..582 /gene="SEMG2" /gene_synonym="SGII" /coded_by="NM_003008.3:18..1766" /db_xref="CCDS:CCDS13346.1" /db_xref="GeneID:6407" /db_xref="HGNC:HGNC:10743" /db_xref="MIM:182141" ORIGIN 1 mksiilfvls lllilekqaa vmgqkggskg qlpsgssqfp hgqkgqhyfg qkdqqhtksk 61 gsfsiqhtyh vdindhdwtr ksqqydlnal hkatkskqhl ggsqqllnyk qegrdhdksk 121 ghfhmivihh kggqahhgtq npsqdqgnsp sgkglssqcs ntekrlwvhg lskeqasasg 181 aqkgrtqggs qssyvlqtee lvvnkqqret knshqnkghy qnvvdvreeh ssklqtslhp 241 ahqdrlqhgp kdifttqdel lvynknqhqt knlsqdqehg rkahkisyps srteerqlhh 301 geksvqkdvs kgsisiqtee kihgksqnqv tihsqdqehg hkenkisyqs ssteerhlnc 361 gekgiqkgvs kgsisiqtee qihgksqnqv ripsqaqeyg hkenkisyqs ssteerrlns 421 gekdvqkgvs kgsisiqtee kihgksqnqv tipsqdqehg hkenkmsyqs ssteerrlny 481 ggkstqkdvs qssisfqiek lvegksqiqt pnpnqdqwsg qnakgksgqs adskqdllsh 541 eqkgrykqes seshnivite hevaqddhlt qqynedrnpi st // LOCUS NP_001352384 212 aa linear PRI 05-JUL-2020 DEFINITION uncharacterized protein C13orf46 [Homo sapiens]. ACCESSION NP_001352384 XP_006720057 XP_011547189 VERSION NP_001352384.1 DBSOURCE REFSEQ: accession NM_001365455.2 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 212) 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 BX537329.2, AUXG01000135.1 and FP565324.3. On or before Aug 24, 2018 this sequence version replaced XP_006720057.3, XP_011547189.2. 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## RNAseq introns :: single sample supports all introns SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000636427.3/ ENSP00000490032.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..212 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="13" /map="13q34" Protein 1..212 /product="uncharacterized protein C13orf46" /calculated_mol_wt=23301 CDS 1..212 /gene="C13orf46" /coded_by="NM_001365455.2:80..718" /db_xref="GeneID:100507747" /db_xref="HGNC:HGNC:53786" ORIGIN 1 mekdtgtthr rhrpglralp sgvalghlka aseaselqrs rslgglqpeg dppsrprkph 61 kelesedqgk dpssnaedas cqknlaqdkk esfstlgklg hesgkqdper eksdleasmq 121 evqegehadg glqeakeqea esiklndlqe eekasvfvei dlgdhaeevv tdakkeekps 181 qmdvedlsed emqtswvcci pystrkrake st // LOCUS NP_001342165 292 aa linear PRI 05-JUL-2020 DEFINITION putative uncharacterized protein C3orf49 [Homo sapiens]. ACCESSION NP_001342165 NP_620163 VERSION NP_001342165.1 DBSOURCE REFSEQ: accession NM_001355236.2 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 292) AUTHORS Ong BA, Li J, McDonough JM, Wei Z, Kim C, Chiavacci R, Mentch F, Caboot JB, Spergel J, Allen JL, Sleiman PM and Hakonarson H. TITLE Gene network analysis in a pediatric cohort identifies novel lung function genes JOURNAL PLoS ONE 8 (9), e72899 (2013) PUBMED 24023788 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 292) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC104162.2 and BC015210.1. On Dec 5, 2018 this sequence version replaced NP_620163.1. ##Evidence-Data-START## Transcript exon combination :: BC015210.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2148874, SAMEA2151119 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000295896.13/ ENSP00000295896.8 RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..292 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3p14.1" Protein 1..292 /product="putative uncharacterized protein C3orf49" /calculated_mol_wt=33330 CDS 1..292 /gene="C3orf49" /coded_by="NM_001355236.2:174..1052" /db_xref="CCDS:CCDS87102.1" /db_xref="GeneID:132200" /db_xref="HGNC:HGNC:25190" ORIGIN 1 maqpqlylpe pfkiayrkvg qcrrfqqlkk kngsfkrkgi erwhravstn llkqnvlvpk 61 eesssdsdmg fhesqqnqks nlktkvktaf grmlsykyrs kpacasqegs tdhkeallsn 121 tqsllprivk efsspklfta kmrklsenat iqldvveaet eeitqgntll rarrttkrls 181 vtslpsglqk gpyspkkrph fpalkkkkrg menilrksdl tvgklqmqvd dlietvtdks 241 mkllaqrhae lqqceflgde ilqsskqfqr iskrtmrkyk lknmttkgpg ds // LOCUS NP_001184113 333 aa linear PRI 05-JUL-2020 DEFINITION probable G-protein coupled receptor 33 [Homo sapiens]. ACCESSION NP_001184113 VERSION NP_001184113.2 DBSOURCE REFSEQ: accession NM_001197184.3 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 Bohnekamp J, Boselt I, Saalbach A, Tonjes A, Kovacs P, Biebermann H, Manvelyan HM, Polte T, Gasperikova D, Lkhagvasuren S, Baier L, Stumvoll M, Rompler H and Schoneberg T. TITLE Involvement of the chemokine-like receptor GPR33 in innate immunity JOURNAL Biochem. Biophys. Res. Commun. 396 (2), 272-277 (2010) PUBMED 20399748 REMARK GeneRIF: These data indicate an important role of GPR33 function in innate immunity which became dispensable during human evolution most likely due to past or balancing selection. REFERENCE 2 (residues 1 to 333) AUTHORS Rompler H, Schulz A, Pitra C, Coop G, Przeworski M, Paabo S and Schoneberg T. TITLE The rise and fall of the chemoattractant receptor GPR33 JOURNAL J. Biol. Chem. 280 (35), 31068-31075 (2005) PUBMED 15987686 REMARK GeneRIF: Cloning and analysis of more than 120 mammalian GPR33 orthologs from 16 of 18 eutherian orders revealed an inactivation of this chemoattractant GPCR not only in humans, but also in several great ape and rodent species. REFERENCE 3 (residues 1 to 333) AUTHORS Marchese A, Nguyen T, Malik P, Xu S, Cheng R, Xie Z, Heng HH, George SR, Kolakowski LF Jr and O'Dowd BF. TITLE Cloning genes encoding receptors related to chemoattractant receptors JOURNAL Genomics 50 (2), 281-286 (1998) PUBMED 9653656 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL163973.1, GQ981322.1 and KF459682.2. On Oct 15, 2010 this sequence version replaced NP_001184113.1. Summary: This gene has been identified as an orphan chemoattractant G-protein-coupled receptors (GPCR) pseudogene. Studies have shown that the inactivated gene is present as the predominant allele in the human population. A small fraction of the human population has been found to harbor an intact allele.[provided by RefSeq, Oct 2010]. Transcript Variant: This variant (1, coding) represents the protein coding transcript, encoding Arg (CGA, aa 140) at the polymorphic site instead of the premature translation termination codon (TGA). Sequence Note: This RefSeq record was created from transcript and genomic sequence 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 :: GQ981322.1, GQ981321.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000399285.5/ ENSP00000421557.1 polymorphic pseudogene :: PMID: 15987686 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..333 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="14" /map="14q12" Protein 1..333 /product="probable G-protein coupled receptor 33" /note="G protein-coupled receptor 33 pseudogene" /calculated_mol_wt=38101 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q49SQ1.1)" Site 12 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q49SQ1.1)" Site 19 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q49SQ1.1)" Site 31..53 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q49SQ1.1)" Region 47..265 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 65..86 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q49SQ1.1)" Site 104..124 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q49SQ1.1)" Site 144..165 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q49SQ1.1)" Site 210..230 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q49SQ1.1)" Site 247..268 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q49SQ1.1)" Site 272 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q49SQ1.1)" Site 284..303 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q49SQ1.1)" CDS 1..333 /gene="GPR33" /coded_by="NM_001197184.3:150..1151" /db_xref="CCDS:CCDS73628.1" /db_xref="GeneID:2856" /db_xref="HGNC:HGNC:4489" /db_xref="MIM:610118" ORIGIN 1 mdlinstdyl inastlvrns tqflapaskm iialslyiss iigtitngly lwvlrfkmkq 61 tvntllffhl ilsyfistmi lpfmatsqlq dnhwnfgtal ckvfngtlsl gmftsvffls 121 aigldryllt lhpvwsqqhr tprwassivl gvwisaaals ipylifreth hdrkgkvtcq 181 nnyavstnwe skemqasrqw ihvacfisrf llgfllpffi iifcyervas kvkerslfks 241 skpfkvmmta iisffvcwmp yhihqglllt tnqslllelt liltvlttsf ntifsptlyl 301 fvgenfkkvf kksilalfes tfsedssver tqt // LOCUS NP_001177405 28 aa linear PRI 05-JUL-2020 DEFINITION humanin-like 4 [Homo sapiens]. ACCESSION NP_001177405 VERSION NP_001177405.1 DBSOURCE REFSEQ: accession NM_001190476.2 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 28) AUTHORS Capt C, Passamonti M and Breton S. TITLE The human mitochondrial genome may code for more than 13 proteins JOURNAL Mitochondrial DNA A DNA Mapp Seq Anal 27 (5), 3098-3101 (2016) PUBMED 25630734 REFERENCE 2 (residues 1 to 28) AUTHORS Lee C, Yen K and Cohen P. TITLE Humanin: a harbinger of mitochondrial-derived peptides? JOURNAL Trends Endocrinol. Metab. 24 (5), 222-228 (2013) PUBMED 23402768 REMARK GeneRIF: Data suggest that humanin (the first small peptide of a putative set of mitochondrial derived peptides) exhibits strong cytoprotective actions against various stress and disease models. REFERENCE 3 (residues 1 to 28) AUTHORS Moretti E, Giannerini V, Rossini L, Matsuoka M, Trabalzini L and Collodel G. TITLE Immunolocalization of humanin in human sperm and testis JOURNAL Fertil. Steril. 94 (7), 2888-2890 (2010) PUBMED 20542501 REFERENCE 4 (residues 1 to 28) AUTHORS Bodzioch M, Lapicka-Bodzioch K, Zapala B, Kamysz W, Kiec-Wilk B and Dembinska-Kiec A. TITLE Evidence for potential functionality of nuclearly-encoded humanin isoforms JOURNAL Genomics 94 (4), 247-256 (2009) PUBMED 19477263 REFERENCE 5 (residues 1 to 28) AUTHORS Muzumdar RH, Huffman DM, Atzmon G, Buettner C, Cobb LJ, Fishman S, Budagov T, Cui L, Einstein FH, Poduval A, Hwang D, Barzilai N and Cohen P. TITLE Humanin: a novel central regulator of peripheral insulin action JOURNAL PLoS ONE 4 (7), e6334 (2009) PUBMED 19623253 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 28) AUTHORS Guo B, Zhai D, Cabezas E, Welsh K, Nouraini S, Satterthwait AC and Reed JC. TITLE Humanin peptide suppresses apoptosis by interfering with Bax activation JOURNAL Nature 423 (6938), 456-461 (2003) PUBMED 12732850 REFERENCE 7 (residues 1 to 28) AUTHORS Tajima H, Niikura T, Hashimoto Y, Ito Y, Kita Y, Terashita K, Yamazaki K, Koto A, Aiso S and Nishimoto I. TITLE Evidence for in vivo production of Humanin peptide, a neuroprotective factor against Alzheimer's disease-related insults JOURNAL Neurosci. Lett. 324 (3), 227-231 (2002) PUBMED 12009529 REFERENCE 8 (residues 1 to 28) AUTHORS Hashimoto Y, Niikura T, Tajima H, Yasukawa T, Sudo H, Ito Y, Kita Y, Kawasumi M, Kouyama K, Doyu M, Sobue G, Koide T, Tsuji S, Lang J, Kurokawa K and Nishimoto I. TITLE A rescue factor abolishing neuronal cell death by a wide spectrum of familial Alzheimer's disease genes and Abeta JOURNAL Proc. Natl. Acad. Sci. U.S.A. 98 (11), 6336-6341 (2001) PUBMED 11371646 REMARK Erratum:[Proc Natl Acad Sci U S A 2001 Oct 23;98(22):12854] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC025283.6. 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. CCDS Note: This gene represents one of several nuclear copies of the mitochondrial MT-RNR2 gene, which is transcribed as part of the 16S subunit of rRNA and can encode the neuroprotective peptide humanin. RT-PCR evidence in PMID:19477263 suggests that this nuclear gene copy is transcribed. The humanin protein has been detected in vivo (e.g., PMIDs 12009529, 19623253 and 20542501) but it is unclear if this protein is translated from mitochondrial or nuclear gene transcripts. Thus, there is some uncertainty about protein production from this nuclear gene copy. This CCDS is represented because protein production cannot be definitively ruled out for this gene. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000399974.5/ ENSP00000382856.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..28 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p13.3" Protein 1..28 /product="humanin-like 4" /note="MTRNR2-like 4; humanin-like protein 4" /calculated_mol_wt=3116 Region 1..24 /region_name="humanin" /note="humanin and similar peptides; cd20245" /db_xref="CDD:380778" Site order(3,6..14,19..21) /site_type="other" /note="putative functional residues" /db_xref="CDD:380778" CDS 1..28 /gene="MTRNR2L4" /gene_synonym="HN4" /coded_by="NM_001190476.2:767..853" /db_xref="CCDS:CCDS53985.1" /db_xref="GeneID:100463285" /db_xref="HGNC:HGNC:37161" ORIGIN 1 matqgfscll lsvseidlsm krqykqir // LOCUS NP_005284 358 aa linear PRI 05-JUL-2020 DEFINITION G-protein coupled receptor 20 [Homo sapiens]. ACCESSION NP_005284 VERSION NP_005284.2 DBSOURCE REFSEQ: accession NM_005293.3 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 358) AUTHORS Ghai R, Bugarcic A, Liu H, Norwood SJ, Skeldal S, Coulson EJ, Li SS, Teasdale RD and Collins BM. TITLE Structural basis for endosomal trafficking of diverse transmembrane cargos by PX-FERM proteins JOURNAL Proc. Natl. Acad. Sci. U.S.A. 110 (8), E643-E652 (2013) PUBMED 23382219 REFERENCE 2 (residues 1 to 358) 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 3 (residues 1 to 358) AUTHORS Hase M, Yokomizo T, Shimizu T and Nakamura M. TITLE Characterization of an orphan G protein-coupled receptor, GPR20, that constitutively activates Gi proteins JOURNAL J. Biol. Chem. 283 (19), 12747-12755 (2008) PUBMED 18347022 REMARK GeneRIF: GPR20 constitutively activates G(i) proteins without ligand stimulation REFERENCE 4 (residues 1 to 358) AUTHORS O'Dowd BF, Nguyen T, Jung BP, Marchese A, Cheng R, Heng HH, Kolakowski LF Jr, Lynch KR and George SR. TITLE Cloning and chromosomal mapping of four putative novel human G-protein-coupled receptor genes JOURNAL Gene 187 (1), 75-81 (1997) PUBMED 9073069 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC100803.11, DR006873.1, AB209066.1 and AA601037.1. On Mar 8, 2006 this sequence version replaced NP_005284.1. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.240271.1, DRR138518.303696.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000377741.4/ ENSP00000366970.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..358 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="8" /map="8q24.3" Protein 1..358 /product="G-protein coupled receptor 20" /note="CTD-3064M3.3" /calculated_mol_wt=38519 Site 16 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q99678.2)" Site 26 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q99678.2)" Site 49..69 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99678.2)" Region 71..297 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 87..107 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99678.2)" Site 126..146 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99678.2)" Site 169..189 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99678.2)" Site 197..217 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99678.2)" Site 239..259 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99678.2)" Site 276..296 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99678.2)" CDS 1..358 /gene="GPR20" /coded_by="NM_005293.3:111..1187" /db_xref="CCDS:CCDS34949.1" /db_xref="GeneID:2843" /db_xref="HGNC:HGNC:4475" /db_xref="MIM:601908" ORIGIN 1 mpsvspagps agavpnatav ttvrtnasgl evplfhlfar ldeelhgtfp glwlalmavh 61 gaiflaglvl nglalyvfcc rtraktpsvi ytinlvvtdl lvglslptrf avyygargcl 121 rcafphvlgy flnmhcsilf ltcicvdryl aivrpegsrr crqpacarav cafvwlaaga 181 vtlsvlgvtg srpccrvfal tvlefllpll visvftgrim calsrpgllh qgrqrrvram 241 qllltvliif lvcftpfhar qvavalwpdm phhtslvvyh vavtlsslns cmdpivycfv 301 tsgfqatvrg lfgqhgerep ssgdvvsmhr sskgsgrhhi lsagphaltq alangpea // LOCUS NP_001177407 24 aa linear PRI 05-JUL-2020 DEFINITION humanin-like 5 [Homo sapiens]. ACCESSION NP_001177407 VERSION NP_001177407.1 DBSOURCE REFSEQ: accession NM_001190478.2 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 24) AUTHORS Capt C, Passamonti M and Breton S. TITLE The human mitochondrial genome may code for more than 13 proteins JOURNAL Mitochondrial DNA A DNA Mapp Seq Anal 27 (5), 3098-3101 (2016) PUBMED 25630734 REFERENCE 2 (residues 1 to 24) AUTHORS Xie P, Kranzler HR, Yang C, Zhao H, Farrer LA and Gelernter J. TITLE Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder JOURNAL Biol. Psychiatry 74 (9), 656-663 (2013) PUBMED 23726511 REFERENCE 3 (residues 1 to 24) AUTHORS Lee C, Yen K and Cohen P. TITLE Humanin: a harbinger of mitochondrial-derived peptides? JOURNAL Trends Endocrinol. Metab. 24 (5), 222-228 (2013) PUBMED 23402768 REMARK GeneRIF: Data suggest that humanin (the first small peptide of a putative set of mitochondrial derived peptides) exhibits strong cytoprotective actions against various stress and disease models. REFERENCE 4 (residues 1 to 24) AUTHORS Moretti E, Giannerini V, Rossini L, Matsuoka M, Trabalzini L and Collodel G. TITLE Immunolocalization of humanin in human sperm and testis JOURNAL Fertil. Steril. 94 (7), 2888-2890 (2010) PUBMED 20542501 REFERENCE 5 (residues 1 to 24) AUTHORS Bodzioch M, Lapicka-Bodzioch K, Zapala B, Kamysz W, Kiec-Wilk B and Dembinska-Kiec A. TITLE Evidence for potential functionality of nuclearly-encoded humanin isoforms JOURNAL Genomics 94 (4), 247-256 (2009) PUBMED 19477263 REFERENCE 6 (residues 1 to 24) AUTHORS Muzumdar RH, Huffman DM, Atzmon G, Buettner C, Cobb LJ, Fishman S, Budagov T, Cui L, Einstein FH, Poduval A, Hwang D, Barzilai N and Cohen P. TITLE Humanin: a novel central regulator of peripheral insulin action JOURNAL PLoS ONE 4 (7), e6334 (2009) PUBMED 19623253 REMARK Publication Status: Online-Only REFERENCE 7 (residues 1 to 24) AUTHORS Guo B, Zhai D, Cabezas E, Welsh K, Nouraini S, Satterthwait AC and Reed JC. TITLE Humanin peptide suppresses apoptosis by interfering with Bax activation JOURNAL Nature 423 (6938), 456-461 (2003) PUBMED 12732850 REFERENCE 8 (residues 1 to 24) AUTHORS Tajima H, Niikura T, Hashimoto Y, Ito Y, Kita Y, Terashita K, Yamazaki K, Koto A, Aiso S and Nishimoto I. TITLE Evidence for in vivo production of Humanin peptide, a neuroprotective factor against Alzheimer's disease-related insults JOURNAL Neurosci. Lett. 324 (3), 227-231 (2002) PUBMED 12009529 REFERENCE 9 (residues 1 to 24) AUTHORS Hashimoto Y, Niikura T, Tajima H, Yasukawa T, Sudo H, Ito Y, Kita Y, Kawasumi M, Kouyama K, Doyu M, Sobue G, Koide T, Tsuji S, Lang J, Kurokawa K and Nishimoto I. TITLE A rescue factor abolishing neuronal cell death by a wide spectrum of familial Alzheimer's disease genes and Abeta JOURNAL Proc. Natl. Acad. Sci. U.S.A. 98 (11), 6336-6341 (2001) PUBMED 11371646 REMARK Erratum:[Proc Natl Acad Sci U S A 2001 Oct 23;98(22):12854] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC074322.4. 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. CCDS Note: This gene represents one of several nuclear copies of the mitochondrial MT-RNR2 gene, which is transcribed as part of the 16S subunit of rRNA and can encode the neuroprotective peptide humanin. RT-PCR evidence in PMID:19477263 suggests that this nuclear gene copy is transcribed. The humanin protein has been detected in vivo (e.g., PMIDs 12009529, 19623253 or 20542501) but it is unclear if this protein is translated from mitochondrial or nuclear gene transcripts. Thus, there is some uncertainty about protein production from this nuclear gene copy. This CCDS is represented because protein production cannot be definitively ruled out for this gene. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000512524.4/ ENSP00000437910.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..24 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10q21.1" Protein 1..24 /product="humanin-like 5" /note="MTRNR2-like 5; humanin-like protein 5" /calculated_mol_wt=2535 Region 1..24 /region_name="humanin" /note="humanin and similar peptides; cd20245" /db_xref="CDD:380778" Site order(3,6..14,19..21) /site_type="other" /note="putative functional residues" /db_xref="CDD:380778" CDS 1..24 /gene="MTRNR2L5" /gene_synonym="HN5" /coded_by="NM_001190478.2:859..933" /db_xref="CCDS:CCDS53537.1" /db_xref="GeneID:100463289" /db_xref="HGNC:HGNC:37162" ORIGIN 1 matpgfscll lstseidlpm krrv // LOCUS NP_001013597 328 aa linear PRI 05-JUL-2020 DEFINITION acyl-CoA wax alcohol acyltransferase 1 [Homo sapiens]. ACCESSION NP_001013597 XP_088691 VERSION NP_001013597.1 DBSOURCE REFSEQ: accession NM_001013579.3 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 328) AUTHORS Turkish AR, Henneberry AL, Cromley D, Padamsee M, Oelkers P, Bazzi H, Christiano AM, Billheimer JT and Sturley SL. TITLE Identification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily JOURNAL J. Biol. Chem. 280 (15), 14755-14764 (2005) PUBMED 15671038 REMARK GeneRIF: analysis of AWAT1 and AWAT2 substrate specificity and differentiation-specific expression pattern REFERENCE 2 (residues 1 to 328) 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 328) AUTHORS Winter A, van Eckeveld M, Bininda-Emonds OR, Habermann FA and Fries R. TITLE Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos taurus) and other mammals JOURNAL Cytogenet. Genome Res. 102 (1-4), 42-47 (2003) PUBMED 14970677 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from W68831.1, AY947638.1 and BC039181.1. This sequence is a reference standard in the RefSeqGene project. On Mar 27, 2005 this sequence version replaced XP_088691.3. Summary: The protein encoded by this gene belongs to the diacylglycerol acyltransferase family. It esterifies long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that this enzyme plays a central role in lipid metabolism in skin. Consistent with this observation, this protein is predominantly expressed in the sebaceous gland of the skin. [provided by RefSeq, Sep 2009]. ##Evidence-Data-START## Transcript exon combination :: AY947638.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2145893 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000374521.4/ ENSP00000363645.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..328 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq13.1" Protein 1..328 /product="acyl-CoA wax alcohol acyltransferase 1" /EC_number="2.3.1.75" /note="diacylglycerol O-acyltransferase 2-like 3; long-chain-alcohol O-fatty-acyltransferase 1; diacyl-glycerol acyltransferase 2; diacylglycerol acyltransferase 2; diacylglycerol O-acyltransferase 2-like protein 3" /calculated_mol_wt=37628 Site 12..32 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q58HT5.1)" Site 34..53 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q58HT5.1)" Region 35..327 /region_name="LPLAT" /note="Lysophospholipid acyltransferases (LPLATs) of glycerophospholipid biosynthesis; cl17185" /db_xref="CDD:302626" Site order(105,108,131..134,181..183) /site_type="other" /note="putative acyl-acceptor binding pocket" /db_xref="CDD:153249" CDS 1..328 /gene="AWAT1" /gene_synonym="DGA2; DGAT2L3" /coded_by="NM_001013579.3:42..1028" /db_xref="CCDS:CCDS35321.1" /db_xref="GeneID:158833" /db_xref="HGNC:HGNC:23252" /db_xref="MIM:300924" ORIGIN 1 mahskqpshf qslmllqwpl sylaifwilq plfvyllfts lwplpvlyfa wlfldwktpe 61 rggrrsawvr nwcvwthird yfpitilktk dlspehnylm gvhphglltf gafcnfctea 121 tgfsktfpgi tphlatlswf fkipfvreyl makgvcsvsq painyllshg tgnlvgivvg 181 gvgealqsvp ntttlilqkr kgfvrtalqh gahlvptftf getevydqvl fhkdsrmykf 241 qscfrrifgf yccvfygqsf cqgstgllpy srpivtvvge plplpqiekp sqemvdkyha 301 lymdalhklf dqhkthygcs etqklffl // LOCUS NP_001303621 107 aa linear PRI 05-JUL-2020 DEFINITION putative guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-14 [Homo sapiens]. ACCESSION NP_001303621 VERSION NP_001303621.1 DBSOURCE REFSEQ: accession NM_001316692.2 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 107) 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 REFERENCE 2 (residues 1 to 107) AUTHORS Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, Zinder N, Levine AJ, Roberts RJ, Simon M, Slayman C, Hunkapiller M, Bolanos R, Delcher A, Dew I, Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S, Kravitz S, Levy S, Mobarry C, Reinert K, Remington K, Abu-Threideh J, Beasley E, Biddick K, Bonazzi V, Brandon R, Cargill M, Chandramouliswaran I, Charlab R, Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K, Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, Gu Z, Guan P, Heiman TJ, Higgins ME, Ji RR, Ke Z, Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, Lu F, Merkulov GV, Milshina N, Moore HM, Naik AK, Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X, Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J, Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F, Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, Awe A, Baldwin D, Baden H, Barnstead M, Barrow I, Beeson K, Busam D, Carver A, Center A, Cheng ML, Curry L, Danaher S, Davenport L, Desilets R, Dietz S, Dodson K, Doup L, Ferriera S, Garg N, Gluecksmann A, Hart B, Haynes J, Haynes C, Heiner C, Hladun S, Hostin D, Houck J, Howland T, Ibegwam C, Johnson J, Kalush F, Kline L, Koduru S, Love A, Mann F, May D, McCawley S, McIntosh T, McMullen I, Moy M, Moy L, Murphy B, Nelson K, Pfannkoch C, Pratts E, Puri V, Qureshi H, Reardon M, Rodriguez R, Rogers YH, Romblad D, Ruhfel B, Scott R, Sitter C, Smallwood M, Stewart E, Strong R, Suh E, Thomas R, Tint NN, Tse S, Vech C, Wang G, Wetter J, Williams S, Williams M, Windsor S, Winn-Deen E, Wolfe K, Zaveri J, Zaveri K, Abril JF, Guigo R, Campbell MJ, Sjolander KV, Karlak B, Kejariwal A, Mi H, Lazareva B, Hatton T, Narechania A, Diemer K, Muruganujan A, Guo N, Sato S, Bafna V, Istrail S, Lippert R, Schwartz R, Walenz B, Yooseph S, Allen D, Basu A, Baxendale J, Blick L, Caminha M, Carnes-Stine J, Caulk P, Chiang YH, Coyne M, Dahlke C, Mays A, Dombroski M, Donnelly M, Ely D, Esparham S, Fosler C, Gire H, Glanowski S, Glasser K, Glodek A, Gorokhov M, Graham K, Gropman B, Harris M, Heil J, Henderson S, Hoover J, Jennings D, Jordan C, Jordan J, Kasha J, Kagan L, Kraft C, Levitsky A, Lewis M, Liu X, Lopez J, Ma D, Majoros W, McDaniel J, Murphy S, Newman M, Nguyen T, Nguyen N, Nodell M, Pan S, Peck J, Peterson M, Rowe W, Sanders R, Scott J, Simpson M, Smith T, Sprague A, Stockwell T, Turner R, Venter E, Wang M, Wen M, Wu D, Wu M, Xia A, Zandieh A and Zhu X. TITLE The sequence of the human genome JOURNAL Science 291 (5507), 1304-1351 (2001) PUBMED 11181995 REMARK Erratum:[Science 2001 Jun 5;292(5523):1838] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC157857.1 and AC018761.6. ##Evidence-Data-START## Transcript is intronless :: BC171856.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000640151.1/ ENSP00000492612.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..107 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.13" Protein 1..107 /product="putative guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-14" /note="guanine nucleotide binding protein (G protein), gamma 12-like" /calculated_mol_wt=11375 Region 18..103 /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:294053" Site order(18,21,25,30,32,70..71,74..75,78,87..88,98) /site_type="other" /note="beta subunit binding site [polypeptide binding]" /db_xref="CDD:238024" CDS 1..107 /gene="GNG14" /coded_by="NM_001316692.2:52..375" /db_xref="CCDS:CCDS86708.1" /db_xref="GeneID:105372280" /db_xref="HGNC:HGNC:53439" ORIGIN 1 msskvainsd igqalwaveq lqmeagidqv kvrvgasagg gkrwehmgqg tgaclglvwl 61 nqlvcrcpkm aadllkfcte qakndpflvg ipaatnsfke kkpyail // LOCUS NP_689689 790 aa linear PRI 05-JUL-2020 DEFINITION zinc finger protein 560 isoform 1 [Homo sapiens]. ACCESSION NP_689689 VERSION NP_689689.2 DBSOURCE REFSEQ: accession NM_152476.3 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 790) AUTHORS Zhu H, Wu TC, Chen WQ, Zhou LJ, Wu Y, Zeng L and Pei HP. TITLE Screening for differentially expressed genes between left- and right-sided colon carcinoma by microarray analysis JOURNAL Oncol Lett 6 (2), 353-358 (2013) PUBMED 24137329 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC008567.5, DA744260.1, BC101040.1 and T41372.1. This sequence is a reference standard in the RefSeqGene project. On Feb 7, 2007 this sequence version replaced NP_689689.1. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: BC101042.2, SRR5189667.48734.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000301480.5/ ENSP00000301480.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..790 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.2" Protein 1..790 /product="zinc finger protein 560 isoform 1" /calculated_mol_wt=90990 Region 13..69 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 13..50 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" Region 110..161 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 110..149 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" 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" Region 323..342 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 344..754 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 350..370 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(350,353,366,370) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(355,357,359,361..362,365..366,369,383,385,389..390, 393..394,397,411,413,415,417..418,421..422,425) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 362..386 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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" Region 434..454 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(434,437,450,454) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 490..510 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(490,493,506,510) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 502..527 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 518..538 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(518,521,534,538) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 531..554 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 546..566 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(546,549,562,566) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(551,553,555,557..558,561..562,565,579,581,585..586, 589..590,593,607,609,611,613..614,617..618,621) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 558..582 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 574..594 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(574,577,590,594) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 586..610 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 600..622 /region_name="zf-C2H2" /note="Zinc finger, C2H2 type; pfam00096" /db_xref="CDD:278523" Region 602..622 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(602,605,618,622) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 630..650 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(630,633,646,650) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 658..678 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(658,661,674,678) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 714..734 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(714,717,730,734) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(719,721,723,725..726,729..730,733,747,749,753..754, 757..758,761,775,777,779,781..782,785..786,789) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 726..751 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 742..762 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(742,745,758,762) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 757..779 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 770..790 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(770,773,786,790) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..790 /gene="ZNF560" /coded_by="NM_152476.3:224..2596" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS12214.1" /db_xref="GeneID:147741" /db_xref="HGNC:HGNC:26484" ORIGIN 1 maycltncyq ysvtfedtav dftqeewill dpvqrnlyrd vmlenyenva kvgfqlfkps 61 viswleeeel rtlqqgvlqd waikhqtsvs alqqefwkiq tsngiqmdlv tfdsvaveft 121 qeewtlldpa qrnlysdvml enyknlssvg yqlfkpslis wleeeeelst lprvlqewkm 181 clktkgpalw qdnfclktln giqlarnqng eelydckqce dvfckhpclk tnmstqnrgn 241 tseciqyakd llslynktst irkvsvfskh gksfrlilnv qvqrkctqdk sfegtdygka 301 fiyqsyleah rktqsgekln ewkqcgeaft hstshavnve thiiknpyec kecgkdfryp 361 thlnnhmqth igikpykckh cgktftvpsg flehvrthtg ekpygckecg kafgtsagli 421 ehircharek tfkcdhcgka fisypslfgh lrvhngekpy ehkeygkafg tssgviedrr 481 sntgqkrfdc dqcgkvfvsf sslfahlrth tgekpfkcyk cgkpftssac lrihmrthte 541 erlyqckkcg kaftkcsylt khlrthagek pyecmkcgka ftersyltkh lrrhsgekpy 601 eckkcgkaft ersdltkhlr rhtgdkpyey kdcgkafvvs sslvdhlrth tgykpykcna 661 cekaysrscv ltqhlkthaa ektsecnacg nsfrnsmcfh drlktltkik pykckdcgka 721 ftchsdltnh vrihtgekpy kckecgkafr tssgriqhlr thmgekpfec dqcgkafasf 781 sariahlkth // LOCUS NP_001139816 478 aa linear PRI 05-JUL-2020 DEFINITION PRAME family member 11 [Homo sapiens]. ACCESSION NP_001139816 XP_001714080 XP_001714889 XP_001715427 XP_006710708 VERSION NP_001139816.2 DBSOURCE REFSEQ: accession NM_001146344.3 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 478) 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 REFERENCE 2 (residues 1 to 478) 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 or before Apr 9, 2014 this sequence version replaced XP_006710708.1, NP_001139816.1. 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 :: BC144426.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000619922.1/ ENSP00000480027.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..478 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.21" Protein 1..478 /product="PRAME family member 11" /calculated_mol_wt=55213 Region 99..126 /region_name="LRR 1, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60813.5)" Region 181..205 /region_name="LRR 2, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60813.5)" Region 206..232 /region_name="LRR 3, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60813.5)" Region 233..268 /region_name="LRR 4, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60813.5)" Region 269..294 /region_name="LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60813.5)" Region 295..326 /region_name="LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60813.5)" Region 327..347 /region_name="LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60813.5)" Region 351..378 /region_name="LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60813.5)" Region 379..403 /region_name="LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (O60813.5)" CDS 1..478 /gene="PRAMEF11" /coded_by="NM_001146344.3:72..1508" /db_xref="CCDS:CCDS53268.2" /db_xref="GeneID:440560" /db_xref="HGNC:HGNC:14086" ORIGIN 1 mkmsirippr llelagrsll rdqalavstl eelptelfpp lfmeafsrrr cealklmvqa 61 wpfrrlplrp likmpcleaf qavldgldal ltqgvrprrw klqvldlqdv cenfwmvwse 121 amahgcflna krnkkpvqdc prmrgrqplt vfvelwlknr tldeyltcll lwvkqrrdll 181 hlcckklkil gmpfrnirsi lkmvnldciq evevnckwil piltqftpyl ghlrnlqklv 241 lshmdvsryv speqkkeivt qfttqflklr clqklymnsv sfleghldql lsclktslkv 301 ltitncvlle sdlkhlsqcp sisqlktldl sgirltnysl vplqillekv aatleyldld 361 dcgiidsqvn ailpalsrcf elntfsfcgn picmatlenl lshtiilknl clelypapqe 421 sygadgtlcw srfaqirael mkkvrhlrhp krilfctdnc pdhgdrsfyd leadqycc // LOCUS NP_001122072 80 aa linear PRI 05-JUL-2020 DEFINITION late cornified envelope protein 6A [Homo sapiens]. ACCESSION NP_001122072 XP_001721617 XP_001724504 XP_001724529 VERSION NP_001122072.1 DBSOURCE REFSEQ: accession NM_001128600.2 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 80) 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: Describes neighboring LCE family members that are present in the same cluster on chromosome 1q21. REFERENCE 2 (residues 1 to 80) 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 DQ991251.1 and BG210316.1. On or before Jun 19, 2008 this sequence version replaced XP_001721617.1, XP_001724529.1, XP_001724504.1. ##Evidence-Data-START## Transcript exon combination :: DQ991251.1, AA046394.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2147596 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000431011.3/ ENSP00000411070.2 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..80 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q21.3" Protein 1..80 /product="late cornified envelope protein 6A" /calculated_mol_wt=8891 Region 1..77 /region_name="LCE6A" /note="Late cornified envelope protein 6A family; pfam15858" /db_xref="CDD:292483" CDS 1..80 /gene="LCE6A" /gene_synonym="C1orf44" /coded_by="NM_001128600.2:178..420" /db_xref="CCDS:CCDS44227.1" /db_xref="GeneID:448835" /db_xref="HGNC:HGNC:31824" ORIGIN 1 msqqkqqswk ppnvpkcspp qrsnpclapy stpcgaphse gchsssqrpe vqkprrarqk 61 lrclsrgtty hckeeecegd // LOCUS NP_001129158 271 aa linear PRI 05-JUL-2020 DEFINITION T-cell-interacting, activating receptor on myeloid cells protein 1 isoform 1 precursor [Homo sapiens]. ACCESSION NP_001129158 XP_001127643 XP_001718779 XP_497642 VERSION NP_001129158.2 DBSOURCE REFSEQ: accession NM_001135686.3 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 271) AUTHORS Radjabova V, Mastroeni P, Skjodt K, Zaccone P, de Bono B, Goodall JC, Chilvers ER, Juss JK, Jones DC, Trowsdale J and Barrow AD. TITLE TARM1 Is a Novel Leukocyte Receptor Complex-Encoded ITAM Receptor That Costimulates Proinflammatory Cytokine Secretion by Macrophages and Neutrophils JOURNAL J. Immunol. 195 (7), 3149-3159 (2015) PUBMED 26311901 REMARK GeneRIF: These results suggest that a putative T cell ligand can interact with TARM1 receptor, resulting in bidirectional signaling and raising the T cell activation threshold while costimulating the release of proinflammatory cytokines by macrophages and neutrophils. REFERENCE 2 (residues 1 to 271) AUTHORS Kohn L, Bowne SJ, S Sullivan L, Daiger SP, Burstedt MS, Kadzhaev K, Sandgren O and Golovleva I. TITLE Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance JOURNAL Eur. J. Hum. Genet. 17 (5), 651-655 (2009) PUBMED 19050727 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DQ479398.1, AC245052.3 and AC012314.8. On Aug 30, 2013 this sequence version replaced NP_001129158.1. ##Evidence-Data-START## Transcript exon combination :: DQ479398.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149004, SAMEA2154529 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000432826.2/ ENSP00000439454.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..271 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.42" Protein 1..271 /product="T-cell-interacting, activating receptor on myeloid cells protein 1 isoform 1 precursor" /note="OSCAR-like transcript-2 protein" /calculated_mol_wt=27667 sig_peptide 1..16 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1806 Region 27..120 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:299845" Region 35..98 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" Site 44 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (B6A8C7.1)" Region 124..219 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:299845" Site 237..257 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (B6A8C7.1)" CDS 1..271 /gene="TARM1" /gene_synonym="OLT-2" /coded_by="NM_001135686.3:26..841" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS46173.1" /db_xref="GeneID:441864" /db_xref="HGNC:HGNC:37250" /db_xref="MIM:616802" ORIGIN 1 mipkllsllc frlcvgqgdt rgdgslpkps lsawpssvvp ansnvtlrcw tpargvsfvl 61 rkggiilesp kpldstegaa efhlnnlkvr nageytceyy rkasphilsq hsdvllllvt 121 ghlskpflrt yqrgtvtagg rvtlqcqkrd qlfvpimfal lkagtpspiq lqspagkeid 181 fslvdvtagd agnyscmyyq tkspfwasep sdqleilvtv ppgttssnys lgnfvrlgla 241 avivvimgaf lveawysrnv spgeseafkp e // LOCUS NP_001352103 305 aa linear PRI 05-JUL-2020 DEFINITION testis-expressed protein 52 isoform 1 [Homo sapiens]. ACCESSION NP_001352103 XP_005253874 VERSION NP_001352103.1 DBSOURCE REFSEQ: accession NM_001365174.2 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 AC005841.3. On Aug 3, 2018 this sequence version replaced XP_005253874.2. 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## RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2149178 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000637658.2/ ENSP00000489863.1 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..305 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12p13.33" Protein 1..305 /product="testis-expressed protein 52 isoform 1" /note="testis-expressed protein 52" /calculated_mol_wt=35203 Region 25..303 /region_name="DUF4532" /note="Protein of unknown function (DUF4532); pfam15046" /db_xref="CDD:317462" CDS 1..305 /gene="TEX52" /coded_by="NM_001365174.2:14..931" /note="isoform 1 is encoded by transcript variant 1" /db_xref="GeneID:101929469" /db_xref="HGNC:HGNC:53643" ORIGIN 1 masnrqrslr gpshpshmee pflqmvqase slppsqtwaq refflpsesw efpgftrqay 61 hqlalklppc tdmkskvrqr lihpwkggaq htwgfhtwld vcrlpatfpt qpdrpydsnv 121 wrwltdsnah rcpptehpip ppswmgqnsf ltfihcyptf vdmkrkkqvi frtvkelkev 181 eklklrsear appldaqgni qppasfkkyr hisaggrfep qglqlmpnpf pnnfarswpc 241 pnplphyqek vlklallpsa plsqdlirdf qtlikdrtal plhhlskaqa sksparkrkr 301 rpghf // LOCUS NP_079534 891 aa linear PRI 05-JUL-2020 DEFINITION von Willebrand factor A domain-containing protein 7 precursor [Homo sapiens]. ACCESSION NP_079534 VERSION NP_079534.2 DBSOURCE REFSEQ: accession NM_025258.3 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 891) AUTHORS McElroy JP, Cree BA, Caillier SJ, Gregersen PK, Herbert J, Khan OA, Freudenberg J, Lee A, Bridges SL Jr, Hauser SL, Oksenberg JR and Gourraud PA. TITLE Refining the association of MHC with multiple sclerosis in African Americans JOURNAL Hum. Mol. Genet. 19 (15), 3080-3088 (2010) PUBMED 20466734 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 2 (residues 1 to 891) AUTHORS Chapuis J, Hot D, Hansmannel F, Kerdraon O, Ferreira S, Hubans C, Maurage CA, Huot L, Bensemain F, Laumet G, Ayral AM, Fievet N, Hauw JJ, DeKosky ST, Lemoine Y, Iwatsubo T, Wavrant-Devrieze F, Dartigues JF, Tzourio C, Buee L, Pasquier F, Berr C, Mann D, Lendon C, Alperovitch A, Kamboh MI, Amouyel P and Lambert JC. TITLE Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease JOURNAL Mol. Psychiatry 14 (11), 1004-1016 (2009) PUBMED 19204726 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 3 (residues 1 to 891) 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) REFERENCE 4 (residues 1 to 891) AUTHORS Valdes AM and Thomson G. CONSRTM Type 1 Diabetes Genetics Consortium TITLE Several loci in the HLA class III region are associated with T1D risk after adjusting for DRB1-DQB1 JOURNAL Diabetes Obes Metab 11 Suppl 1, 46-52 (2009) PUBMED 19143814 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (residues 1 to 891) AUTHORS Xie T, Rowen L, Aguado B, Ahearn ME, Madan A, Qin S, Campbell RD and Hood L. TITLE Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse JOURNAL Genome Res. 13 (12), 2621-2636 (2003) PUBMED 14656967 REFERENCE 6 (residues 1 to 891) 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 7 (residues 1 to 891) AUTHORS Kumanovics A and Lindahl KF. TITLE G7c in the lung tumor susceptibility (Lts) region of the Mhc class III region encodes a von Willebrand factor type A domain protein JOURNAL Immunogenetics 53 (1), 64-68 (2001) PUBMED 11261934 REFERENCE 8 (residues 1 to 891) AUTHORS Snoek M, Albertella MR, van Kooij M, Wixon J, van Vugt H, de Groot K and Campbell RD. TITLE G7c, a novel gene in the mouse and human major histocompatibility complex class III region, possibly controlling lung tumor susceptibility JOURNAL Immunogenetics 51 (4-5), 383-386 (2000) PUBMED 10803853 REFERENCE 9 (residues 1 to 891) 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 VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DC323829.1, BC114625.1 and AL662899.5. On Jul 26, 2007 this sequence version replaced NP_079534.1. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.260206.1, SRR1803612.93110.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153733 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000375688.5/ ENSP00000364840.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..891 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p21.33" Protein 1..891 /product="von Willebrand factor A domain-containing protein 7 precursor" /note="protein G7c; von Willebrand factor A domain-containing protein 7" /calculated_mol_wt=93157 sig_peptide 1..28 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2922 Site 55 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9Y334.4)" Region <163..>190 /region_name="Het-C" /note="Heterokaryon incompatibility protein Het-C; pfam07217" /db_xref="CDD:311270" Region 318..418 /region_name="VWA_2" /note="von Willebrand factor type A domain; pfam13519" /db_xref="CDD:316077" Site order(321,390,417) /site_type="other" /note="metal ion-dependent adhesion site (MIDAS)" /db_xref="CDD:238119" CDS 1..891 /gene="VWA7" /gene_synonym="C6orf27; G7c; NG37" /coded_by="NM_025258.3:236..2911" /db_xref="CCDS:CCDS4721.2" /db_xref="GeneID:80737" /db_xref="HGNC:HGNC:13939" /db_xref="MIM:609693" ORIGIN 1 mlptevpqsh pgpsallllq lllpptsaff pniwsllaap gsithqdlte eaalnvtlql 61 fleqpppgrp plrledflgr tlladdlfaa yfgpgssrrf raalgevsra naaqdflpts 121 rndpdlhfda erlgqgrarl vgalretvva araldhtlar qrlgaalhal qdfyshsnwv 181 elgeqqphph llwprqelqn laqvadptcs dceelscprn wlgftlltsg yfgthppkpp 241 gkcshgghfd rsssqpprgg inkdstspgf sphhmlhlqa aklallasiq afsllrsrlg 301 drdfsrlldi tpasslsfvl dttgsmgeei naakiqarhl veqrrgspme pvhyvlvpfh 361 dpgfgpvftt sdpdsfwqql neihalgggd epemclsalq lallhtppls difvftdasp 421 kdafltnqve sltqerrcrv tflvtedtsr vqgrarreil splrfepyka valasggevi 481 ftkdqhirdv aaivgesmaa lvtlpldppv vvpgqplvfs vdgllqkitv rihgdissfw 541 iknpagvsqg qeegggplgh trrfgqfwmv tmddppqtgt weiqvtaedt pgvrvqaqts 601 ldflfhfgip medgphpgly pltqpvaglq tqllvevtgl gsranpgdpq phfshvilrg 661 vpegaelgqv plepvgpper gllaaslspt llstprpfsl eligqdaagr rlhraapqps 721 tvvpvllels gpsgflapgs kvplslrias fsgpqdldlr tfvnpsfslt snlsrahlel 781 nesawgrlwl evpdsaapds vvmvtvtagg reanpvppth aflrllvsap apqdrhttpt 841 gssdpiltta tpafspftlv tqgragagla agspwwgtvg gvllllglas w // LOCUS NP_001357682 141 aa linear PRI 05-JUL-2020 DEFINITION biotinidase isoform 7 precursor [Homo sapiens]. ACCESSION NP_001357682 VERSION NP_001357682.1 DBSOURCE REFSEQ: accession NM_001370753.1 KEYWORDS RefSeq. SOURCE Homo 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 Borsatto T, Sperb-Ludwig F, Blom HJ and Schwartz IVD. TITLE Effect of BTD gene variants on in vitro biotinidase activity JOURNAL Mol. Genet. Metab. 127 (4), 361-367 (2019) PUBMED 31337602 REMARK GeneRIF: In patients with biotinidase deficiency, the p.Leu40Pro, p.Cys160Tyr and p.Leu446Pro variants are deleterious; the p.Asn489Ser is probably related to a mild biochemical phenotype; and p.Asp222Asn variant is probably not deleterious. The p.Asp444His variant seems to code for a protein with variable activity. REFERENCE 2 (residues 1 to 141) AUTHORS Canda E, Yazici H, Er E, Kose M, Basol G, Onay H, Ucar SK, Habif S, Ozkinay F and Coker M. TITLE Single center experience of biotinidase deficiency: 259 patients and six novel mutations JOURNAL J. Pediatr. Endocrinol. Metab. 31 (8), 917-926 (2018) PUBMED 29995633 REMARK GeneRIF: BTD mutation is associated with biotinidase deficiency. REFERENCE 3 (residues 1 to 141) AUTHORS Permuth JB, Pirie A, Ann Chen Y, Lin HY, Reid BM, Chen Z, Monteiro A, Dennis J, Mendoza-Fandino G, Anton-Culver H, Bandera EV, Bisogna M, Brinton L, Brooks-Wilson A, Carney ME, Chenevix-Trench G, Cook LS, Cramer DW, Cunningham JM, Cybulski C, D'Aloisio AA, Anne Doherty J, Earp M, Edwards RP, Fridley BL, Gayther SA, Gentry-Maharaj A, Goodman MT, Gronwald J, Hogdall E, Iversen ES, Jakubowska A, Jensen A, Karlan BY, Kelemen LE, Kjaer SK, Kraft P, Le ND, Levine DA, Lissowska J, Lubinski J, Matsuo K, Menon U, Modugno R, Moysich KB, Nakanishi T, Ness RB, Olson S, Orlow I, Pearce CL, Pejovic T, Poole EM, Ramus SJ, Anne Rossing M, Sandler DP, Shu XO, Song H, Taylor JA, Teo SH, Terry KL, Thompson PJ, Tworoger SS, Webb PM, Wentzensen N, Wilkens LR, Winham S, Woo YL, Wu AH, Yang H, Zheng W, Ziogas A, Phelan CM, Schildkraut JM, Berchuck A, Goode EL, Pharoah PD and Sellers TA. CONSRTM AOCS Study Group; Australian Cancer Study (Ovarian Cancer); Ovarian Cancer Association Consortium TITLE Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk JOURNAL Hum. Mol. Genet. 25 (16), 3600-3612 (2016) PUBMED 27378695 REMARK GeneRIF: Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2), BTD rs200337373 (3p25.1), KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)), but only MC2R rs104894668 had a large effect size (OR = 9.66). REFERENCE 4 (residues 1 to 141) AUTHORS Procter M, Wolf B and Mao R. TITLE Forty-eight novel mutations causing biotinidase deficiency JOURNAL Mol. Genet. Metab. 117 (3), 369-372 (2016) PUBMED 26810761 REMARK GeneRIF: 48 novel alterations in the biotinidase gene have been identified; correlating the individual's serum enzymatic activity with genotype, were able to determine the effect of the novel alteration on enzyme activity and, thereby, determine its likelihood of being pathogenic in 44 of these individuals REFERENCE 5 (residues 1 to 141) AUTHORS Hymes J, Stanley CM and Wolf B. TITLE Mutations in BTD causing biotinidase deficiency JOURNAL Hum. Mutat. 18 (5), 375-381 (2001) PUBMED 11668630 REMARK GeneRIF: review of mutations causing biotinidase deficiency Review article REFERENCE 6 (residues 1 to 141) AUTHORS Cole H, Reynolds TR, Lockyer JM, Buck GA, Denson T, Spence JE, Hymes J and Wolf B. TITLE Human serum biotinidase. cDNA cloning, sequence, and characterization JOURNAL J. Biol. Chem. 269 (9), 6566-6570 (1994) PUBMED 7509806 REFERENCE 7 (residues 1 to 141) AUTHORS Wolf,B. TITLE Biotinidase Deficiency JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K and Amemiya A (Eds.); GENEREVIEWS((R)); (1993) PUBMED 20301497 REFERENCE 8 (residues 1 to 141) AUTHORS Klein,C., Lohmann,K., Marras,C. and Munchau,A. TITLE Hereditary Dystonia Overview JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K and Amemiya A (Eds.); GENEREVIEWS((R)); (1993) PUBMED 20301334 REFERENCE 9 (residues 1 to 141) AUTHORS Oizumi J and Hayakawa K. TITLE Enkephalin hydrolysis by human serum biotinidase JOURNAL Biochim. Biophys. Acta 1074 (3), 433-438 (1991) PUBMED 1679665 REFERENCE 10 (residues 1 to 141) AUTHORS Wolf,B., Grier,R.E., Secor McVoy,J.R. and Heard,G.S. TITLE Biotinidase deficiency: a novel vitamin recycling defect JOURNAL J. Inherit. Metab. Dis. 8 Suppl 1, 53-58 (1985) PUBMED 3930841 REMARK Review article COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC027129.6 and AC090950.3. Summary: The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [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## CDS exon combination :: DC382808.1, SRR1660803.408317.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [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..141 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3p25.1" Protein 1..141 /product="biotinidase isoform 7 precursor" /EC_number="3.5.1.12" /note="biotinase" /calculated_mol_wt=13840 sig_peptide 1..21 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2160 Region 38..>133 /region_name="nitrilase" /note="Nitrilase superfamily, including nitrile- or amide-hydrolyzing enzymes and amide-condensing enzymes; cl11424" /db_xref="CDD:353250" CDS 1..141 /gene="BTD" /coded_by="NM_001370753.1:167..592" /note="isoform 7 precursor is encoded by transcript variant 8" /db_xref="GeneID:686" /db_xref="HGNC:HGNC:1122" /db_xref="MIM:609019" ORIGIN 1 msgarsklal flcgcyvval gahtgeesva dhheaeyyva avyehpsils lnplalisrq 61 ealelmnqnl diyeqqvmta aqkdvqiivf pedgihgfnf trtsiypfld fmpspqvvrw 121 npclephrfn dteasyvevr f // LOCUS NP_001034656 263 aa linear PRI 05-JUL-2020 DEFINITION 40S ribosomal protein S4, Y isoform 2 [Homo sapiens]. ACCESSION NP_001034656 VERSION NP_001034656.1 DBSOURCE REFSEQ: accession NM_001039567.3 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 263) AUTHORS Ye J, Coulouris G, Zaretskaya I, Cutcutache I, Rozen S and Madden TL. TITLE Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction JOURNAL BMC Bioinformatics 13, 134 (2012) PUBMED 22708584 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 263) AUTHORS Lopes AM, Miguel RN, Sargent CA, Ellis PJ, Amorim A and Affara NA. TITLE The human RPS4 paralogue on Yq11.223 encodes a structurally conserved ribosomal protein and is preferentially expressed during spermatogenesis JOURNAL BMC Mol. Biol. 11, 33 (2010) PUBMED 20459660 REMARK GeneRIF: One of the Y-linked copies of the ribosomal protein S4 is expressed during spermatogenesis and germ cell development and the C-terminus of the protein has some degree of functional specialisation of this protein in spermatogenesis. Publication Status: Online-Only REFERENCE 3 (residues 1 to 263) 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 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF497481.2. This sequence is a reference standard in the RefSeqGene project. Summary: The protein encoded by this gene is a ribosomal protein that is highly similar to RPS4Y1. This gene is located in the male-specific region of the Y chromosome. [provided by RefSeq, Aug 2012]. ##Evidence-Data-START## Transcript exon combination :: AF497481.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000629237.2/ ENSP00000486252.1 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="Y" /map="Yq11.223" Protein 1..263 /product="40S ribosomal protein S4, Y isoform 2" /note="ribosomal protein S4, Y-linked 2 pseudogene; 40S ribosomal protein S4, Y; small ribosomal subunit protein eS4" /calculated_mol_wt=29164 Region 1..260 /region_name="PLN00036" /note="40S ribosomal protein S4; Provisional" /db_xref="CDD:177670" Region 3..39 /region_name="RS4NT" /note="RS4NT (NUC023) domain; pfam08071" /db_xref="CDD:285333" Region 95..169 /region_name="Ribosomal_S4e" /note="Ribosomal family S4e; pfam00900" /db_xref="CDD:279271" Region 175..229 /region_name="KOW_RPS4" /note="KOW motif of Ribosomal Protein S4 (RPS4); cd06087" /db_xref="CDD:240511" Site order(186..188,197,199,201..202,204,206..207,219,221) /site_type="other" /note="RNA binding site [nucleotide binding]" /db_xref="CDD:240511" Region 212..259 /region_name="40S_S4_C" /note="40S ribosomal protein S4 C-terminus; pfam16121" /db_xref="CDD:292739" CDS 1..263 /gene="RPS4Y2" /gene_synonym="RPS4Y2P" /coded_by="NM_001039567.3:57..848" /db_xref="CCDS:CCDS44028.1" /db_xref="GeneID:140032" /db_xref="HGNC:HGNC:18501" /db_xref="MIM:400030" ORIGIN 1 margpkkhlk rvaapkhwml dkltgvfapr pstgphklre clplivflrn rlkyaltgde 61 vkkicmqhfl kidgkvrvdi typagfidvi siektgehfr lvyntkgcfa vhritveeak 121 yklckvrkit vgtkgiphlv thdartiryp dplikvndtv qidlgtgkit sfikfdtgnv 181 cmviaganlg rvgvitnrer hpgscdvvhv kdangnsfat risnifvign gnkpwislpr 241 gkgirltiae erdkrlaakq ssg // LOCUS NP_001244197 198 aa linear PRI 05-JUL-2020 DEFINITION protein RD3-like [Homo sapiens]. ACCESSION NP_001244197 XP_001723064 VERSION NP_001244197.1 DBSOURCE REFSEQ: accession NM_001257268.2 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 198) AUTHORS Bonaldo MF, Lennon G and Soares MB. TITLE Normalization and subtraction: two approaches to facilitate gene discovery JOURNAL Genome Res. 6 (9), 791-806 (1996) PUBMED 8889548 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL136001.6, BX117646.1 and BQ184214.1. On Mar 25, 2012 this sequence version replaced XP_001723064.2. ##Evidence-Data-START## Transcript exon combination :: SRR5189655.120879.1, DRR138527.778314.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267764 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000557640.2/ ENSP00000455434.1 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="14" /map="14q32.33" Protein 1..198 /product="protein RD3-like" /note="TDRD9 antisense RNA 1 (non-protein coding); TDRD9 antisense 1; retinal degeneration protein 3-like" /calculated_mol_wt=23078 Region 16..132 /region_name="RD3" /note="RD3 protein; pfam14473" /db_xref="CDD:291162" CDS 1..198 /gene="RD3L" /gene_synonym="TDRD9-AS1; TDRD9AS1" /coded_by="NM_001257268.2:446..1042" /db_xref="CCDS:CCDS58338.1" /db_xref="GeneID:647286" /db_xref="HGNC:HGNC:40912" ORIGIN 1 mplfgwmkwp kndsykpthy pgsdivtktl lrelkwhlke rerliqeien eqkvkktgvd 61 ynwlrnyqnp httipvteqr qlevlcsqvq pcqtgtilsr frevlaendv lpweivyifk 121 qvlkdflsss drgseqedle dsgsmdcsap sviqgdsskr adkdeiptis syvdkntkdr 181 fpvfshriwn lpyyhpss // LOCUS NP_001357480 130 aa linear PRI 05-JUL-2020 DEFINITION protein PPP5D1 isoform 4 [Homo sapiens]. ACCESSION NP_001357480 VERSION NP_001357480.1 DBSOURCE REFSEQ: accession NM_001370551.1 KEYWORDS RefSeq. SOURCE Homo 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 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 130) 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 130) AUTHORS Bonaldo MF, Lennon G and Soares MB. TITLE Normalization and subtraction: two approaches to facilitate gene discovery JOURNAL Genome Res. 6 (9), 791-806 (1996) PUBMED 8889548 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK094504.1, BM718195.1 and AC011484.7. 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 :: AK094504.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA1970526 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..130 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.32" Protein 1..130 /product="protein PPP5D1 isoform 4" /EC_number="3.1.3.16" /note="PPP5 TPR repeat domain-containing protein 1; protein PPP5D1" /calculated_mol_wt=14608 Region 3..78 /region_name="PPP5" /note="PPP5 TPR repeat region; pfam08321" /db_xref="CDD:311981" CDS 1..130 /gene="PPP5D1" /coded_by="NM_001370551.1:71..463" /note="isoform 4 is encoded by transcript variant 4" /db_xref="GeneID:100506012" /db_xref="HGNC:HGNC:44209" ORIGIN 1 mkyqecnkiv kqkaferaia gdehkrsvvd sldiesmtie geysgpkled dkvtitfmkg 61 lmqwykdqkk lhqkcayqgl alsprlkcsg titahcslnl lgprdpptsa sqvavtegmh 121 hhtwliflfl // LOCUS NP_775896 275 aa linear PRI 05-JUL-2020 DEFINITION uncharacterized protein C17orf78 isoform 1 [Homo sapiens]. ACCESSION NP_775896 VERSION NP_775896.3 DBSOURCE REFSEQ: accession NM_173625.5 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 275) AUTHORS Garner C, Ahn R, Ding YC, Steele L, Stoven S, Green PH, Fasano A, Murray JA and Neuhausen SL. TITLE Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus JOURNAL PLoS ONE 9 (7), e101428 (2014) PUBMED 24999842 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 275) AUTHORS Pharoah PD, Tsai YY, Ramus SJ, Phelan CM, Goode EL, Lawrenson K, Buckley M, Fridley BL, Tyrer JP, Shen H, Weber R, Karevan R, Larson MC, Song H, Tessier DC, Bacot F, Vincent D, Cunningham JM, Dennis J, Dicks E, Aben KK, Anton-Culver H, Antonenkova N, Armasu SM, Baglietto L, Bandera EV, Beckmann MW, Birrer MJ, Bloom G, Bogdanova N, Brenton JD, Brinton LA, Brooks-Wilson A, Brown R, Butzow R, Campbell I, Carney ME, Carvalho RS, Chang-Claude J, Chen YA, Chen Z, Chow WH, Cicek MS, Coetzee G, Cook LS, Cramer DW, Cybulski C, Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dork T, du Bois A, Durst M, Eccles D, Edwards R, Ekici AB, Fasching PA, Fenstermacher D, Flanagan J, Gao YT, Garcia-Closas M, Gentry-Maharaj A, Giles G, Gjyshi A, Gore M, Gronwald J, Guo Q, Halle MK, Harter P, Hein A, Heitz F, Hillemanns P, Hoatlin M, Hogdall E, Hogdall CK, Hosono S, Jakubowska A, Jensen A, Kalli KR, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Konecny GE, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee N, Lee J, Leminen A, Lim BK, Lissowska J, Lubinski J, Lundvall L, Lurie G, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, Menon U, Modugno F, Moysich KB, Nakanishi T, Narod SA, Ness RB, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson S, Orlow I, Paul J, Pejovic T, Pelttari LM, Permuth-Wey J, Pike MC, Poole EM, Qu X, Risch HA, Rodriguez-Rodriguez L, Rossing MA, Rudolph A, Runnebaum I, Rzepecka IK, Salvesen HB, Schwaab I, Severi G, Shen H, Shridhar V, Shu XO, Sieh W, Southey MC, Spellman P, Tajima K, Teo SH, Terry KL, Thompson PJ, Timorek A, Tworoger SS, van Altena AM, van den Berg D, Vergote I, Vierkant RA, Vitonis AF, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wik E, Winterhoff B, Woo YL, Wu AH, Yang HP, Zheng W, Ziogas A, Zulkifli F, Goodman MT, Hall P, Easton DF, Pearce CL, Berchuck A, Chenevix-Trench G, Iversen E, Monteiro AN, Gayther SA, Schildkraut JM and Sellers TA. CONSRTM Australian Cancer Study; Australian Ovarian Cancer Study Group TITLE GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer JOURNAL Nat. Genet. 45 (4), 362-370 (2013) PUBMED 23535730 REFERENCE 3 (residues 1 to 275) 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 275) 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 AC243654.3, AK096966.1, BC034672.1 and EG328593.1. On Mar 18, 2004 this sequence version replaced NP_775896.2. ##Evidence-Data-START## Transcript exon combination :: BC034672.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144835, SAMEA2152474 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000615133.2/ ENSP00000478886.1 RefSeq Select criteria :: based on manual assertion, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..275 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q12" Protein 1..275 /product="uncharacterized protein C17orf78 isoform 1" /note="uncharacterized protein C17orf78" /calculated_mol_wt=30424 Region 1..211 /region_name="DUF4711" /note="Domain of unknown function (DUF4711); pfam15829" /db_xref="CDD:292457" Site 187..207 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N4C9.2)" CDS 1..275 /gene="C17orf78" /coded_by="NM_173625.5:109..936" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS45655.1" /db_xref="GeneID:284099" /db_xref="HGNC:HGNC:26831" ORIGIN 1 mdtilvfsli iasydankkd lrdsscrleq lpgifpkdvr sirelqmqet htetkrttfi 61 qnrtiatlqc lgsdskvkvn lvylerrpkv khilknlrii aaprrnssas sschliptsk 121 fqtgsllkgk aflpgisqck vlgassetfp ttapsitpgn kegekttstd tdenlekrqk 181 wsivvkilia vtlllsgvai ivfvifevpc pyqclgarkl cqcqwlwrwq kkggqppgta 241 eskpdsqpqk vgqdaanssn pkkaaeitvi hqtyf // LOCUS NP_000757 494 aa linear PRI 05-JUL-2020 DEFINITION cytochrome P450 2A13 [Homo sapiens]. ACCESSION NP_000757 VERSION NP_000757.2 DBSOURCE REFSEQ: accession NM_000766.5 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 494) AUTHORS Hua F, Guo Y, Sun Q, Yang L and Gao F. TITLE HapMap-based study: CYP2A13 may be a potential key metabolic enzyme gene in the carcinogenesis of lung cancer in non-smokers JOURNAL Thorac Cancer 10 (4), 601-606 (2019) PUBMED 30807688 REMARK GeneRIF: Study provides evidence that CYP2A13 gene polymorphisms may be candidate biomarkers of lung cancer susceptibility in Chinese. REFERENCE 2 (residues 1 to 494) AUTHORS Shimada T, Murayama N, Kakimoto K, Takenaka S, Lim YR, Yeom S, Kim D, Yamazaki H, Guengerich FP and Komori M. TITLE Oxidation of 1-chloropyrene by human CYP1 family and CYP2A subfamily cytochrome P450 enzymes: catalytic roles of two CYP1B1 and five CYP2A13 allelic variants JOURNAL Xenobiotica 48 (6), 565-575 (2018) PUBMED 28648140 REMARK GeneRIF: Oxidation of 1-chloropyrene by human CYP1 family and CYP2A subfamily cytochrome P450 enzymes: catalytic roles of two CYP1B1 and five CYP2A13 allelic variants REFERENCE 3 (residues 1 to 494) AUTHORS Kim V, Yeom S, Lee Y, Park HG, Cho MA, Kim H and Kim D. TITLE In vitro functional analysis of human cytochrome P450 2A13 genetic variants: P450 2A13*2, *3, *4, and *10 JOURNAL J. Toxicol. Environ. Health Part A 81 (12), 493-501 (2018) PUBMED 29652224 REMARK GeneRIF: Functional analysis of variations in P450 2A13 allelic variants may help to understand the consequences of P450 2A13 polymorphism in bioactivation of many tobacco-derived carcinogens. REFERENCE 4 (residues 1 to 494) AUTHORS Liu X, Zhang J, Wang L, Yang B, Zhang C, Liu W and Zhou J. TITLE In vitro metabolism of N'-Nitrosonornicotine catalyzed by cytochrome P450 2A13 and its inhibition by nicotine, N'-Nitrosoanatabine and N'-Nitrosoanabasine JOURNAL Chem. Biol. Interact. 260, 263-269 (2016) PUBMED 27567546 REMARK GeneRIF: CYP2A13 is the most efficient enzyme to metabolize N'-Nitrosonornicotine in vitro. REFERENCE 5 (residues 1 to 494) AUTHORS Kumondai M, Hosono H, Orikasa K, Arai Y, Arai T, Sugimura H, Ozono S, Sugiyama T, Takayama T, Sasaki T, Hirasawa N and Hiratsuka M. TITLE CYP2A13 Genetic Polymorphisms in Relation to the Risk of Bladder Cancer in Japanese Smokers JOURNAL Biol. Pharm. Bull. 39 (10), 1683-1686 (2016) PUBMED 27725446 REMARK GeneRIF: The results of this case-control study suggested that the CYP2A13*1/*2 genotype decreased the risk of susceptibility to bladder cancer in Japanese smokers REFERENCE 6 (residues 1 to 494) 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 494) AUTHORS Smith G, Stubbins MJ, Harries LW and Wolf CR. TITLE Molecular genetics of the human cytochrome P450 monooxygenase superfamily JOURNAL Xenobiotica 28 (12), 1129-1165 (1998) PUBMED 9890157 REMARK Review article REFERENCE 8 (residues 1 to 494) AUTHORS Hoffman SM, Fernandez-Salguero P, Gonzalez FJ and Mohrenweiser HW. TITLE Organization and evolution of the cytochrome P450 CYP2A-2B-2F subfamily gene cluster on human chromosome 19 JOURNAL J. Mol. Evol. 41 (6), 894-900 (1995) PUBMED 8587134 REFERENCE 9 (residues 1 to 494) AUTHORS Fernandez-Salguero P, Hoffman SM, Cholerton S, Mohrenweiser H, Raunio H, Rautio A, Pelkonen O, Huang JD, Evans WE, Idle JR et al. TITLE A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 alleles JOURNAL Am. J. Hum. Genet. 57 (3), 651-660 (1995) PUBMED 7668294 REFERENCE 10 (residues 1 to 494) AUTHORS Fernandez-Salguero P and Gonzalez FJ. TITLE The CYP2A gene subfamily: species differences, regulation, catalytic activities and role in chemical carcinogenesis JOURNAL Pharmacogenetics 5 Spec No, S123-S128 (1995) PUBMED 7581481 REMARK Review article COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC008962.9, AF209774.1 and BM975825.1. This sequence is a reference standard in the RefSeqGene project. On Apr 20, 2001 this sequence version replaced NP_000757.1. 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. Although its endogenous substrate has not been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major nitrosamine specific to tobacco. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [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 :: AF209774.1, AY513609.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2144333 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000330436.4/ ENSP00000332679.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..494 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.2" Protein 1..494 /product="cytochrome P450 2A13" /EC_number="1.14.14.1" /note="cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13; cytochrome P450, family 2, subfamily A, polypeptide 13" /calculated_mol_wt=56557 Region 34..491 /region_name="p450" /note="Cytochrome P450; pfam00067" /db_xref="CDD:278495" CDS 1..494 /gene="CYP2A13" /gene_synonym="CPAD; CYP2A; CYPIIA13" /coded_by="NM_000766.5:22..1506" /db_xref="CCDS:CCDS12571.1" /db_xref="GeneID:1553" /db_xref="HGNC:HGNC:2608" /db_xref="MIM:608055" ORIGIN 1 mlasglllvt llacltvmvl msvwrqrksr gklppgptpl pfignylqln teqmynslmk 61 iserygpvft ihlgprrvvv lcghdavkea lvdqaeefsg rgeqatfdwl fkgygvafsn 121 gerakqlrrf siatlrgfgv gkrgieeriq eeagflidal rgthganidp tfflsrtvsn 181 vissivfgdr fdyedkefls llrmmlgsfq ftatstgqly emfssvmkhl pgpqqqafke 241 lqgledfiak kvehnqrtld pnsprdfids flirmqeeek npntefylkn lvmttlnlff 301 agtetvsttl rygflllmkh peveakvhee idrvigknrq pkfedrakmp yteaviheiq 361 rfgdmlpmgl ahrvnkdtkf rdfflpkgte vfpmlgsvlr dprffsnprd fnpqhfldkk 421 gqfkksdafv pfsigkrycf geglarmelf lffttimqnf rfkspqspkd idvspkhvgf 481 atiprnytms flpr // LOCUS NP_001264262 917 aa linear PRI 05-JUL-2020 DEFINITION ankyrin repeat domain-containing protein 62 [Homo sapiens]. ACCESSION NP_001264262 VERSION NP_001264262.1 DBSOURCE REFSEQ: accession NM_001277333.2 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 AP002414.3, BX648696.1, BX649021.1, DW010010.1, DW010011.1 and EG328348.1. 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 exon combination of this transcript is inferred based on tiled partial human transcript alignments. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000587848.3/ ENSP00000467740.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..917 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="18" /map="18p11.21" Protein 1..917 /product="ankyrin repeat domain-containing protein 62" /calculated_mol_wt=106316 Region 42..92 /region_name="Ank_4" /note="Ankyrin repeats (many copies); pfam13637" /db_xref="CDD:290365" Region 42..69 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 66..191 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 71..100 /region_name="ANK 1" /note="propagated from UniProtKB/Swiss-Prot (A6NC57.4)" Site order(73,77..78,81..83,85..86,90,93,102,104,106,110..111, 114..116,118..119,123,126,135,137,139,143..144,147..149, 151..152,156,159) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 73..102 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 76..167 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 104..135 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 104..133 /region_name="ANK 2" /note="propagated from UniProtKB/Swiss-Prot (A6NC57.4)" Region 132..256 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 137..167 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 137..166 /region_name="ANK 3" /note="propagated from UniProtKB/Swiss-Prot (A6NC57.4)" Region 142..234 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 170..201 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 170..199 /region_name="ANK 4" /note="propagated from UniProtKB/Swiss-Prot (A6NC57.4)" Region 203..234 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 203..232 /region_name="ANK 5" /note="propagated from UniProtKB/Swiss-Prot (A6NC57.4)" Region 561..846 /region_name="CCDC144C" /note="CCDC144C protein coiled-coil region; pfam14915" /db_xref="CDD:291576" CDS 1..917 /gene="ANKRD62" /gene_synonym="DKFZp779B1634" /coded_by="NM_001277333.2:176..2929" /db_xref="CCDS:CCDS67439.1" /db_xref="GeneID:342850" /db_xref="HGNC:HGNC:35241" ORIGIN 1 mevrgsflaa crrrmatwrk nrdkdgfsnp gyrvrqkdlg mihkaaiagd vnkvmesill 61 rlndlndrdk knrtalllac ahgrpgvvad lvarkcqlnl tdsenrtali kavqcqeevc 121 asillehgan pnvrdmygnt alhyaidnen ismarkllay gadiearsqd ghtslllavn 181 rkkeqmvafl lkkkpdltai dnfgrtalil aarngstsvv yqllqhnidv fcqdisgwta 241 edyavaskfq airgmiseyk ankrckslqn snseqdlemt segeqerleg cessqpqvee 301 kmkkcrnkkm evsrnvhadd sdnynddvde lihkiknrkp dnhqspgken gefdrlarkt 361 snekskvksq iyftddlndi sgssektsed delpysdden fmllieqsgm eckdfvslsk 421 sknataacgr siedqkcyce rlkvkfqkmk nnisvlqkvl setdktksqs ehqnlqgkkk 481 lcnlrfilqq qeeerikaee lyekdieelk imeeqyrtqt evkkqskltl kslevelktv 541 rsnsnqnfht hererdlwqe nhlmrdeiar lrleidtikh qnqetenkyf kdieiikenn 601 edlektlkrn eealtktitr yskelnvlmd entmlnselq kekqsmsrle temesyrcrl 661 aaalcdhdqr qsskrdlqla fqstvnewch lqedtnshiq ilsqqlskae stssgletel 721 hyerealkek tlhiehmqgv lsrtqrrled iehmyqndqp ilekyvrkqq svedglfqlq 781 sqnllyqqqc ndarkkadnq ektiiniqvk cedtveklqa ecrkleennk glmkectllk 841 erqcqyekek eerevvrrql qrevddalnk qllleamlei sserrinled eaqslkkklg 901 qmrsqvcmkl smstvtl // LOCUS NP_115513 904 aa linear PRI 05-JUL-2020 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 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 361..564 /region_name="FAM194" /note="FAM194 protein; pfam14977" /db_xref="CDD:291638" 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" 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_001243404 465 aa linear PRI 05-JUL-2020 DEFINITION testicular haploid expressed gene protein-like [Homo sapiens]. ACCESSION NP_001243404 VERSION NP_001243404.1 DBSOURCE REFSEQ: accession NM_001256475.2 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 465) 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 AC108215.4, DB450279.1, DW009623.1, DY655539.1 and DY655427.1. 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 :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000512175.3/ ENSP00000456850.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..465 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q12" Protein 1..465 /product="testicular haploid expressed gene protein-like" /note="theg spermatid-like protein" /calculated_mol_wt=52897 Region 174..192 /region_name="THEG 1" /note="propagated from UniProtKB/Swiss-Prot (P0DJG4.1)" Region 175..231 /region_name="THEG" /note="Testicular haploid expressed repeat; pfam14912" /db_xref="CDD:291573" Region 210..277 /region_name="THEG" /note="Testicular haploid expressed repeat; pfam14912" /db_xref="CDD:291573" Region 214..233 /region_name="THEG 2" /note="propagated from UniProtKB/Swiss-Prot (P0DJG4.1)" Region 260..279 /region_name="THEG 3" /note="propagated from UniProtKB/Swiss-Prot (P0DJG4.1)" Region 297..316 /region_name="THEG 4" /note="propagated from UniProtKB/Swiss-Prot (P0DJG4.1)" Region 303..350 /region_name="THEG" /note="Testicular haploid expressed repeat; pfam14912" /db_xref="CDD:291573" Region 330..390 /region_name="THEG" /note="Testicular haploid expressed repeat; pfam14912" /db_xref="CDD:291573" Region 333..352 /region_name="THEG 5" /note="propagated from UniProtKB/Swiss-Prot (P0DJG4.1)" Region 369..426 /region_name="THEG" /note="Testicular haploid expressed repeat; pfam14912" /db_xref="CDD:291573" Region 373..392 /region_name="THEG 6" /note="propagated from UniProtKB/Swiss-Prot (P0DJG4.1)" Region 404..462 /region_name="THEG" /note="Testicular haploid expressed repeat; pfam14912" /db_xref="CDD:291573" Region 409..428 /region_name="THEG 7" /note="propagated from UniProtKB/Swiss-Prot (P0DJG4.1)" Region 446..465 /region_name="THEG 8" /note="propagated from UniProtKB/Swiss-Prot (P0DJG4.1)" CDS 1..465 /gene="THEGL" /coded_by="NM_001256475.2:72..1469" /db_xref="CCDS:CCDS58899.1" /db_xref="GeneID:100506564" /db_xref="HGNC:HGNC:43771" ORIGIN 1 menqeflsss apsevtdgqv steistcsev fqkpivlril dthreleese dpekhenpee 61 peevreqdqr deseecdeph esyephapya phkprdsyap yelhgphaap kllkareprq 121 lrhtreprks reaketellp saavmispsl itrapprpql sflganpvsc dfvrkcfssr 181 krtpnlskpk kqwgtpdrkl fwgnqdpirp vsqgalkaql tkrlenlaqp kevschyvpn 241 raqyyhscgr esviweitpp alfrqpskri qrlsqpngfk rqcllnrpfs dnsardslri 301 sdpsprilql svakgtdpny hpskkmqtki slstlsaiat priielahpr ikleglcyer 361 qrselpirpv ppaamiakps prtialaksk svhqdylpdr dahwpvsyat thskaspriq 421 elanpnkrap vrivyydpdv fktkpaalka qcsqriwels qpltr // LOCUS NP_001243615 391 aa linear PRI 05-JUL-2020 DEFINITION casein kinase II subunit alpha 3 [Homo sapiens]. ACCESSION NP_001243615 VERSION NP_001243615.1 DBSOURCE REFSEQ: accession NM_001256686.2 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 391) AUTHORS Hung MS, Lin YC, Mao JH, Kim IJ, Xu Z, Yang CT, Jablons DM and You L. TITLE Functional polymorphism of the CK2alpha intronless gene plays oncogenic roles in lung cancer JOURNAL PLoS ONE 5 (7), e11418 (2010) PUBMED 20625391 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only REFERENCE 2 (residues 1 to 391) AUTHORS Trembley JH, Tatsumi S, Sakashita E, Loyer P, Slaughter CA, Suzuki H, Endo H, Kidd VJ and Mayeda A. TITLE Activation of pre-mRNA splicing by human RNPS1 is regulated by CK2 phosphorylation JOURNAL Mol. Cell. Biol. 25 (4), 1446-1457 (2005) PUBMED 15684395 REFERENCE 3 (residues 1 to 391) AUTHORS Pechkova E, Zanotti G and Nicolini C. TITLE Three-dimensional atomic structure of a catalytic subunit mutant of human protein kinase CK2 JOURNAL Acta Crystallogr. D Biol. Crystallogr. 59 (Pt 12), 2133-2139 (2003) PUBMED 14646071 REFERENCE 4 (residues 1 to 391) AUTHORS Ermakova I, Boldyreff B, Issinger OG and Niefind K. TITLE Crystal structure of a C-terminal deletion mutant of human protein kinase CK2 catalytic subunit JOURNAL J. Mol. Biol. 330 (5), 925-934 (2003) PUBMED 12860116 REFERENCE 5 (residues 1 to 391) AUTHORS Keller DM and Lu H. TITLE p53 serine 392 phosphorylation increases after UV through induction of the assembly of the CK2.hSPT16.SSRP1 complex JOURNAL J. Biol. Chem. 277 (51), 50206-50213 (2002) PUBMED 12393879 REFERENCE 6 (residues 1 to 391) AUTHORS Wirkner U, Voss H, Lichter P, Weitz S, Ansorge W and Pyerin W. TITLE Human casein kinase II subunit alpha: sequence of a processed (pseudo)gene and its localization on chromosome 11 JOURNAL Biochim. Biophys. Acta 1131 (2), 220-222 (1992) PUBMED 1610905 REFERENCE 7 (residues 1 to 391) AUTHORS Boldyreff B, Klett C, Gottert E, Geurts van Kessel A, Hameister H and Issinger OG. TITLE Assignment of casein kinase 2 alpha sequences to two different human chromosomes JOURNAL Hum. Genet. 89 (1), 79-82 (1992) PUBMED 1577469 REFERENCE 8 (residues 1 to 391) AUTHORS Yang-Feng TL, Zheng K, Kopatz I, Naiman T and Canaani D. TITLE Mapping of the human casein kinase II catalytic subunit genes: two loci carrying the homologous sequences for the alpha subunit JOURNAL Nucleic Acids Res. 19 (25), 7125-7129 (1991) PUBMED 1766873 REFERENCE 9 (residues 1 to 391) AUTHORS Lozeman FJ, Litchfield DW, Piening C, Takio K, Walsh KA and Krebs EG. TITLE Isolation and characterization of human cDNA clones encoding the alpha and the alpha' subunits of casein kinase II JOURNAL Biochemistry 29 (36), 8436-8447 (1990) PUBMED 2174700 REFERENCE 10 (residues 1 to 391) AUTHORS Meisner H, Heller-Harrison R, Buxton J and Czech MP. TITLE Molecular cloning of the human casein kinase II alpha subunit JOURNAL Biochemistry 28 (9), 4072-4076 (1989) PUBMED 2752008 REMARK Erratum:[Biochemistry 1989 Aug 22;28(17):7138] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC023946.5. Summary: This gene encodes a protein that is highly similar to the casein kinase II alpha protein. Casein kinase II is a serine/threonine protein kinase complex that phosphorylates numerous substrates including casein. The alpha subunit is the catalytic component of the complex. Mutations in this gene may be associated with a susceptibility to lung cancer. There are contradictory views among published reports of this gene as to whether or not it is a protein-coding gene or a processed pseudogene (PMIDs: 20625391, 20625391 and 10094393). [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 is intronless :: AY112721.1, SRR1660809.191092.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000528848.3/ ENSP00000473553.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..391 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11p15.4" Protein 1..391 /product="casein kinase II subunit alpha 3" /note="casein kinase 2, alpha 1 polypeptide pseudogene; casein kinase 2, alpha 3 polypeptide" /calculated_mol_wt=45089 Region 20..325 /region_name="STKc_CK2_alpha" /note="Catalytic subunit (alpha) of the Serine/Threonine Kinase, Casein Kinase 2; cd14132" /db_xref="CDD:271034" Site order(36,39..41,67,69,101,103..104,110) /site_type="other" /note="allosteric inhibitor binding site [chemical binding]" /db_xref="CDD:271034" Site order(36..37,39..42,50,54,103) /site_type="other" /note="tetramer interface [polypeptide binding]" /db_xref="CDD:271034" Site order(36..37,39..41,57,59,103) /site_type="other" /note="CK2 beta interface [polypeptide binding]" /db_xref="CDD:271034" Region 39..324 /region_name="Pkinase" /note="Protein kinase domain; pfam00069" /db_xref="CDD:278497" Site order(45..49,53,66,68,80,95,113..116,120,122..123,156,158, 160..161,163,175,178,189,191..194,196,235) /site_type="active" /db_xref="CDD:271034" Site order(47..48,50..51,53,66,68,95,113..114,116,160..161,163, 174..175) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:271034" Site order(80,122,156,158,178,189,191..194,196,235) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:271034" Site order(174..184,189..196) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:271034" Region 332..>389 /region_name="PE_PPE_C" /note="Polymorphic PE/PPE proteins C terminal; pfam12484" /db_xref="CDD:289267" CDS 1..391 /gene="CSNK2A3" /gene_synonym="CSNK2A1P" /coded_by="NM_001256686.2:132..1307" /db_xref="CCDS:CCDS59224.1" /db_xref="GeneID:283106" /db_xref="HGNC:HGNC:2458" ORIGIN 1 msgpvpsrar vytdvnthrp reywdyeshv vewgnqddyq lvrklgrgky sevfeainit 61 nnekvvvkil kpvkkkkikr eikilenlrg gpniitladi vkdpvsrtpa lvfehvnntd 121 fkqlyqtltd ydirfymyei lkaldychsm gimhrdvkph nvmidhehrk lrlidwglae 181 fyhpgqeynv rvasryfkgp ellvdyqmyd ysldmwrlgc mlasmifrke pffhgrdnyd 241 qlvriakflg tedlygyidk ynieldprfn dilgrhsrkr werfvhsenq hlvspealdf 301 ldkllrydhq srltareame hpyfytvvkd qarmgsssmp ggstpvssan vmsgissvpt 361 psplgplags pviaaanplg mpvpaatgaq q // LOCUS NP_004669 106 aa linear PRI 05-JUL-2020 DEFINITION testis-specific basic protein Y 2 [Homo sapiens]. ACCESSION NP_004669 VERSION NP_004669.2 DBSOURCE REFSEQ: accession NM_004678.3 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 106) AUTHORS Ahmadi Rastegar D, Sharifi Tabar M, Alikhani M, Parsamatin P, Sahraneshin Samani F, Sabbaghian M, Sadighi Gilani MA, Mohammad Ahadi A, Mohseni Meybodi A, Piryaei A, Ansari-Pour N, Gourabi H, Baharvand H and Salekdeh GH. TITLE Isoform-Level Gene Expression Profiles of Human Y Chromosome Azoospermia Factor Genes and Their X Chromosome Paralogs in the Testicular Tissue of Non-Obstructive Azoospermia Patients JOURNAL J. Proteome Res. 14 (9), 3595-3605 (2015) PUBMED 26162009 REFERENCE 2 (residues 1 to 106) AUTHORS Lu C, Jiang J, Zhang R, Wang Y, Xu M, Qin Y, Lin Y, Guo X, Ni B, Zhao Y, Diao N, Chen F, Shen H, Sha J, Xia Y, Hu Z and Wang X. TITLE Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment JOURNAL Mol. Hum. Reprod. 20 (9), 836-843 (2014) PUBMED 24935076 REMARK GeneRIF: genetic association study in Chinese population: Data suggest that combined patterns of copy number abnormality in BPY2 (basic charge Y-linked protein 2) and/or DAZ1 (deleted in azoospermia 1) are associated with spermatogenic impairment/azoospermia. REFERENCE 3 (residues 1 to 106) 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 106) AUTHORS Choi J, Koh E, Suzuki H, Maeda Y, Yoshida A and Namiki M. TITLE Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell-only phenotype JOURNAL Int. J. Urol. 14 (5), 431-435 (2007) PUBMED 17511727 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (residues 1 to 106) AUTHORS Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, Oates RD, Silber S, van der Veen F, Page DC and Rozen S. TITLE A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region JOURNAL Genomics 83 (6), 1046-1052 (2004) PUBMED 15177557 REFERENCE 6 (residues 1 to 106) AUTHORS Wong EY, Tse JY, Yao KM, Lui VC, Tam PC and Yeung WS. TITLE Identification and characterization of human VCY2-interacting protein: VCY2IP-1, a microtubule-associated protein-like protein JOURNAL Biol. Reprod. 70 (3), 775-784 (2004) PUBMED 14627543 REFERENCE 7 (residues 1 to 106) AUTHORS Tse JY, Wong EY, Cheung AN, O WS, Tam PC and Yeung WS. TITLE Specific expression of VCY2 in human male germ cells and its involvement in the pathogenesis of male infertility JOURNAL Biol. Reprod. 69 (3), 746-751 (2003) PUBMED 12724276 REMARK GeneRIF: VCY2 was weakly expressed at the spermatogonia and immunonegative in spermatocytes and round spermatids in testicular biopsy specimens with maturation arrest or hypospermatogenesis. REFERENCE 8 (residues 1 to 106) 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 106) AUTHORS Wong EY, Tse JY, Yao KM, Tam PC and Yeung WS. TITLE VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A JOURNAL Biochem. Biophys. Res. Commun. 296 (5), 1104-1111 (2002) PUBMED 12207887 REMARK GeneRIF: VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A REFERENCE 10 (residues 1 to 106) 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 AF000980.1 and AC006366.4. This sequence is a reference standard in the RefSeqGene project. On Sep 6, 2007 this sequence version replaced NP_004669.1. Summary: This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the copy outside of the palidromic region. [provided by RefSeq, Jul 2008]. CCDS Note: This CCDS ID represents the protein described in PMIDs: 12724276 and 12207887. 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: 12724276. Three identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the copy outside of the palidromic region. ##Evidence-Data-START## Transcript exon combination :: AF000980.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000331070.8/ ENSP00000329106.3 NMD candidate :: PMID: 12207887, 12724276 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..106 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="Y" /map="Yq11.223" Protein 1..106 /product="testis-specific basic protein Y 2" /note="testis-specific basic protein on Y, 2; basic protein on Y chromosome 2; variable charge, Y-linked, 2; variably charged protein Y 2" /calculated_mol_wt=11932 CDS 1..106 /gene="BPY2" /gene_synonym="BPY2A; VCY2; VCY2A" /coded_by="NM_004678.3:333..653" /db_xref="CCDS:CCDS14800.1" /db_xref="GeneID:9083" /db_xref="HGNC:HGNC:13508" /db_xref="MIM:400013" ORIGIN 1 mmtlvprart ragqdhyshp cprfsqvllt egimtycltk nlsdvnilhr llkngnvrnt 61 llqskvgllt yyvklypgev tlltrpsiqm rlccitgsvs rprsqk // LOCUS NP_001009614 72 aa linear PRI 05-JUL-2020 DEFINITION sperm protein associated with the nucleus on the X chromosome N1 [Homo sapiens]. ACCESSION NP_001009614 VERSION NP_001009614.1 DBSOURCE REFSEQ: accession NM_001009614.3 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 72) AUTHORS Westbrook VA, Schoppee PD, Vanage GR, Klotz KL, Diekman AB, Flickinger CJ, Coppola MA and Herr JC. TITLE Hominoid-specific SPANXA/D genes demonstrate differential expression in individuals and protein localization to a distinct nuclear envelope domain during spermatid morphogenesis JOURNAL Mol. Hum. Reprod. 12 (11), 703-716 (2006) PUBMED 17012309 REFERENCE 2 (residues 1 to 72) AUTHORS Kouprina N, Mullokandov M, Rogozin IB, Collins NK, Solomon G, Otstot J, Risinger JI, Koonin EV, Barrett JC and Larionov V. TITLE The SPANX gene family of cancer/testis-specific antigens: rapid evolution and amplification in African great apes and hominids JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (9), 3077-3082 (2004) PUBMED 14973187 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL713923.2, DQ336118.1 and AL356499.16. This sequence is a reference standard in the RefSeqGene project. Summary: This gene represents one of several duplicated family members that are located on chromosome X. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specific subgroup of cancer/testis-associated antigens, and they may be candidates for tumor vaccines. This family member belongs to a subgroup of related genes that are present in all primates and rats and mice, and thus, it represents one of the ancestral family members. [provided by RefSeq, May 2010]. ##Evidence-Data-START## Transcript exon combination :: DQ336118.1, DQ336119.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000370493.4/ ENSP00000359524.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..72 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq27.3" Protein 1..72 /product="sperm protein associated with the nucleus on the X chromosome N1" /note="cancer/testis antigen family 11, member 6; nuclear-associated protein SPAN-Xn1" /calculated_mol_wt=8132 Region 1..>72 /region_name="SPAN-X" /note="Sperm protein associated with nucleus, mapped to X chromosome; pfam07458" /db_xref="CDD:284798" CDS 1..72 /gene="SPANXN1" /gene_synonym="CT11.6" /coded_by="NM_001009614.3:85..303" /db_xref="CCDS:CCDS35421.1" /db_xref="GeneID:494118" /db_xref="HGNC:HGNC:33174" /db_xref="MIM:300664" ORIGIN 1 meqptssing ekrkspcesn nendemqetp nrdlapepsl kkmktseyst vlafcyrkak 61 kihsnqlend qs // LOCUS NP_775100 374 aa linear PRI 05-JUL-2020 DEFINITION carboxypeptidase O precursor [Homo sapiens]. ACCESSION NP_775100 VERSION NP_775100.1 DBSOURCE REFSEQ: accession NM_173077.3 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 374) AUTHORS Garcia-Guerrero MC, Garcia-Pardo J, Berenguer E, Fernandez-Alvarez R, Barfi GB, Lyons PJ, Aviles FX, Huber R, Lorenzo J and Reverter D. TITLE Crystal structure and mechanism of human carboxypeptidase O: Insights into its specific activity for acidic residues JOURNAL Proc. Natl. Acad. Sci. U.S.A. 115 (17), E3932-E3939 (2018) PUBMED 29636417 REMARK GeneRIF: hCPO can also trim C-t extensions of proteins, such as epidermal growth factor, suggesting a role in the maturation and degradation of growth factors and bioactive peptides. REFERENCE 2 (residues 1 to 374) 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 3 (residues 1 to 374) AUTHORS Lyons PJ and Fricker LD. TITLE Carboxypeptidase O is a glycosylphosphatidylinositol-anchored intestinal peptidase with acidic amino acid specificity JOURNAL J. Biol. Chem. 286 (45), 39023-39032 (2011) PUBMED 21921028 REMARK GeneRIF: CPO cleaves acidic amino acids from dietary proteins and peptides, thus complementing the actions of well known digestive carboxypeptidases CPA and CPB. REFERENCE 4 (residues 1 to 374) AUTHORS Wei S, Segura S, Vendrell J, Aviles FX, Lanoue E, Day R, Feng Y and Fricker LD. TITLE Identification and characterization of three members of the human metallocarboxypeptidase gene family JOURNAL J. Biol. Chem. 277 (17), 14954-14964 (2002) PUBMED 11836249 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC019052.7, BC112078.1 and AJ422118.1. This sequence is a reference standard in the RefSeqGene project. Summary: This gene is a member of the metallocarboxypeptidase gene family. [provided by RefSeq, Jan 2011]. ##Evidence-Data-START## Transcript exon combination :: BC112078.1, AJ422118.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153733, SAMEA2153932 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000272852.4/ ENSP00000272852.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..374 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q33.3" Protein 1..374 /product="carboxypeptidase O precursor" /EC_number="3.4.17.-" /note="metallocarboxypeptidase C; metallocarboxypeptidase O" /calculated_mol_wt=40432 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2116 mat_peptide 21..374 /product="carboxypeptidase O" /calculated_mol_wt=40432 Region 47..344 /region_name="M14_CPO" /note="Peptidase M14 carboxypeptidase subfamily A/B-like; Carboxypeptidase O subgroup; cd06247" /db_xref="CDD:133105" Site order(108,111,166,183..184,236..237,243,310) /site_type="active" /note="putative active site [active]" /db_xref="CDD:133105" Site order(108,111,236) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:133105" Site 132 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8IVL8.1)" Site 174 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8IVL8.1)" Site 187 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8IVL8.1)" Site 251 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8IVL8.1)" CDS 1..374 /gene="CPO" /coded_by="NM_173077.3:83..1207" /db_xref="CCDS:CCDS2372.1" /db_xref="GeneID:130749" /db_xref="HGNC:HGNC:21011" /db_xref="MIM:609563" ORIGIN 1 mkplletlyl lgmlvpgglg ydrslaqhrq eivdksvspw sletysyniy hpmgeiyewm 61 reisekykev vtqhflgvty ethpmyylki sqpsgnpkki iwmdcgihar ewiapafcqw 121 fvkeilqnhk dnssirkllr nldfyvlpvl nidgyiytwt tdrlwrksrs phnngtcfgt 181 dlnrnfnasw csigasrncq dqtfcgtgpv sepetkavas fieskkddil cfltmhsygq 241 liltpygytk nkssnhpemi qvgqkaanal kakygtnyrv gssadilyas sgssrdward 301 igipfsytfe lrdsgtygfv lpeaqiqptc eetmeavlsv lddvyakhwh sdsagrvtsa 361 tmllgllvsc msll // LOCUS NP_697020 156 aa linear PRI 05-JUL-2020 DEFINITION beta-defensin 125 preproprotein [Homo sapiens]. ACCESSION NP_697020 VERSION NP_697020.2 DBSOURCE REFSEQ: accession NM_153325.4 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 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 2 (residues 1 to 156) 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] COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK311802.1, BC128196.1 and AL360078.16. On Sep 29, 2005 this sequence version replaced NP_697020.1. Summary: Defensins are cysteine-rich cationic polypeptides that are important in the host 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 :: DB084490.1, AK311802.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000382410.3/ ENSP00000371847.2 Protein has antimicrobial activity :: PMID: 12620395 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="20" /map="20p13" Protein 1..156 /product="beta-defensin 125 preproprotein" /note="beta defensin 25; beta-defensin 125" /calculated_mol_wt=15317 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2238 proprotein 21..156 /product="beta-defensin 125 proprotein" /calculated_mol_wt=15317 mat_peptide 21..67 /product="beta-defensin 125" /experiment="DESCRIPTION:antimicrobial peptide[PMID: 12620395]" /calculated_mol_wt=5731 Region 26..56 /region_name="Defensin_beta_2" /note="Beta defensin; pfam13841" /db_xref="CDD:316366" CDS 1..156 /gene="DEFB125" /gene_synonym="DEFB-25" /coded_by="NM_153325.4:39..509" /db_xref="CCDS:CCDS12989.2" /db_xref="GeneID:245938" /db_xref="HGNC:HGNC:18105" ORIGIN 1 mnilmltfii cglltrvtkg sfepqkcwkn nvghcrrrcl dteryillcr nklsccisii 61 sheytrrpaf pvihleditl dysdvdsftg spvsmlndli tfdttkfget mtpetntpet 121 tmppseattp ettmppseta tsetmpppsq talthn // LOCUS NP_941969 221 aa linear PRI 05-JUL-2020 DEFINITION keratin-associated protein 10-3 [Homo sapiens]. ACCESSION NP_941969 VERSION NP_941969.2 DBSOURCE REFSEQ: accession NM_198696.3 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 Shibuya K, Obayashi I, Asakawa S, Minoshima S, Kudoh J and Shimizu N. TITLE A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3 JOURNAL Genomics 83 (4), 679-693 (2004) PUBMED 15028290 REFERENCE 2 (residues 1 to 221) AUTHORS Rogers MA, Langbein L, Winter H, Beckmann I, Praetzel S and Schweizer J. TITLE Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21 JOURNAL J. Invest. Dermatol. 122 (1), 147-158 (2004) PUBMED 14962103 REFERENCE 3 (residues 1 to 221) 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 REVIEWED REFSEQ: This record has been curated by NCBI staff in collaboration with Michael Rogers. The reference sequence was derived from AP001067.1, AB076350.1 and AJ566383.1. This sequence is a reference standard in the RefSeqGene project. On May 5, 2005 this sequence version replaced NP_941969.1. Summary: This gene encodes a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This gene encodes a member of the high sulfur KAP family. It is localized to a cluster of intronless KAPs at 21q22.3 which are located within the introns of the C21orf29 gene. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: AB076350.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000391620.2/ ENSP00000375478.1 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="21" /map="21q22.3" Protein 1..221 /product="keratin-associated protein 10-3" /note="keratin-associated protein 18.3; high sulfur keratin-associated protein 10.3; keratin-associated protein 18-3" /calculated_mol_wt=22217 Region 26..214 /region_name="18 X 5 AA repeats of C-C-X(3)" /note="propagated from UniProtKB/Swiss-Prot (P60369.2)" Region 26..69 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 78..203 /region_name="Keratin_B2" /note="Keratin, high sulfur B2 protein; pfam01500" /db_xref="CDD:279797" Region 79..123 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 146..202 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" CDS 1..221 /gene="KRTAP10-3" /gene_synonym="KAP10.3; KAP18-3; KAP18.3; KRTAP10.3; KRTAP18-3; KRTAP18.3" /coded_by="NM_198696.3:81..746" /db_xref="CCDS:CCDS42956.1" /db_xref="GeneID:386682" /db_xref="HGNC:HGNC:22968" ORIGIN 1 matstmsvcs saysdswqvd acpesccepp ccatsccapa pcltlvctpv scvsspccqa 61 acepspcqsg ctssctpscc qqsscqpacc tsspcqqacc vpvcckpvcc vpvcckpvcc 121 kpiccvpvcs gasssccqqs srqpacctts ccrpsssvsl lcrpvcrstc cvpipsccap 181 astcqpsccr pascvsllcr ptcsrlssac cglssgqkss c // LOCUS NP_001230013 850 aa linear PRI 05-JUL-2020 DEFINITION hypoxia-inducible factor 1-alpha isoform 3 [Homo sapiens]. ACCESSION NP_001230013 VERSION NP_001230013.1 DBSOURCE REFSEQ: accession NM_001243084.1 KEYWORDS RefSeq. SOURCE Homo 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 Zhao C, Chen J, Cheng L, Xu K, Yang Y and Su X. TITLE Deficiency of HIF-1alpha enhances influenza A virus replication by promoting autophagy in alveolar type II epithelial cells JOURNAL Emerg Microbes Infect 9 (1), 691-706 (2020) PUBMED 32208814 REMARK GeneRIF: deficiency of HIF-1alpha in lung epithelial cells reduces glycolysis and enhances AMPKalpha-ULK1-mediated autophagy, which finally facilitates influenza A virus replication REFERENCE 2 (residues 1 to 850) AUTHORS Xu S and Ying K. TITLE Association between HIF-1alpha gene polymorphisms and lung cancer: A meta-analysis JOURNAL Medicine (Baltimore) 99 (24), e20610 (2020) PUBMED 32541494 REMARK GeneRIF: This meta-analysis was carried out to assess the connection between HIF-1alpha gene polymorphisms (rs11549467, rs11549465, and rs2057482) and lung cancer risk REFERENCE 3 (residues 1 to 850) AUTHORS Shukuya T, Oyanagi J, Serizawa M, Watanabe M, Yamamoto N and Koh Y. TITLE Hypoxia Inducible Factor-1alpha Inhibition in Von Hippel Lindau-mutant Malignant Pleural Mesothelioma Cells JOURNAL Anticancer Res. 40 (4), 1867-1874 (2020) PUBMED 32234874 REMARK GeneRIF: Knockdown of HIF-1alpha by siRNA partially inhibited the growth of NCI-H28 cells, suggesting that an additional blockade may be required to completely inhibit growth signaling. The VHL mutation may predict tumor responses to YC-1, a HIF-1alpha inhibitor. REFERENCE 4 (residues 1 to 850) AUTHORS Xu E, Ji Z, Jiang H, Lin T, Ma J and Zhou X. TITLE Hypoxia-Inducible Factor 1A Upregulates HMGN5 by Increasing the Expression of GATA1 and Plays a Role in Osteosarcoma Metastasis JOURNAL Biomed Res Int 2019, 5630124 (2019) PUBMED 31930127 REMARK GeneRIF: HIF1A upregulated the transcription factor GATA1 and further promoted the expression of HMGN5. Publication Status: Online-Only REFERENCE 5 (residues 1 to 850) AUTHORS Ni J, Zhou S, Yuan W, Cen F and Yan Q. TITLE Mechanism of miR-210 involved in epithelial-mesenchymal transition of pancreatic cancer cells under hypoxia JOURNAL J. Recept. Signal Transduct. Res. 39 (5-6), 399-406 (2019) PUBMED 31875764 REMARK GeneRIF: MiR-210 inhibited the expression of HOXA9 to activate the NF-kappaB signaling pathway and mediated the occurrence of epithelial-mesenchymal transition (EMT) of pancreatic cancer cells induced by HIF-1a under hypoxia. REFERENCE 6 (residues 1 to 850) 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 7 (residues 1 to 850) AUTHORS Wang GL and Semenza GL. TITLE Purification and characterization of hypoxia-inducible factor 1 JOURNAL J. Biol. Chem. 270 (3), 1230-1237 (1995) PUBMED 7836384 REFERENCE 8 (residues 1 to 850) AUTHORS Semenza GL, Roth PH, Fang HM and Wang GL. TITLE Transcriptional regulation of genes encoding glycolytic enzymes by hypoxia-inducible factor 1 JOURNAL J. Biol. Chem. 269 (38), 23757-23763 (1994) PUBMED 8089148 REFERENCE 9 (residues 1 to 850) AUTHORS Wang GL and Semenza GL. TITLE General involvement of hypoxia-inducible factor 1 in transcriptional response to hypoxia JOURNAL Proc. Natl. Acad. Sci. U.S.A. 90 (9), 4304-4308 (1993) PUBMED 8387214 REFERENCE 10 (residues 1 to 850) AUTHORS Semenza GL and Wang GL. TITLE A nuclear factor induced by hypoxia via de novo protein synthesis binds to the human erythropoietin gene enhancer at a site required for transcriptional activation JOURNAL Mol. Cell. Biol. 12 (12), 5447-5454 (1992) PUBMED 1448077 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from FJ790247.1, CN264320.1, X72726.1 and BC012527.2. Summary: This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011]. Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and uses an alternate in-frame acceptor splice site at the next exon compared to variant 1. This results in a longer isoform (3, also known as isoform I.3) with a distinct N-terminus compared to isoform 1. This isoform is transcriptionally active, and is upregulated in activated human T lymphocytes (PMID:18638657). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: FJ790247.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01820697 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..850 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="14" /map="14q23.2" Protein 1..850 /product="hypoxia-inducible factor 1-alpha isoform 3" /note="ARNT interacting protein; hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor); member of PAS superfamily 1; hypoxia-inducible factor 1-alpha; hypoxia-inducible factor 1 alpha isoform I.3; member of PAS protein 1; PAS domain-containing protein 8; hypoxia inducible factor 1 alpha subunit; basic-helix-loop-helix-PAS protein MOP1; class E basic helix-loop-helix protein 78; hypoxia-inducible factor1alpha" /calculated_mol_wt=95503 Region 39..92 /region_name="HLH" /note="Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers; cd00083" /db_xref="CDD:238036" Site order(42..43,49..51,53,77,80) /site_type="DNA binding" /note="DNA binding region [nucleotide binding]" /db_xref="CDD:238036" Site 50 /site_type="other" /note="E-box/N-box specificity site" /db_xref="CDD:238036" Region 117..172 /region_name="PAS" /note="PAS domain; smart00091" /db_xref="CDD:214512" Region 263..362 /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" Region 278..363 /region_name="PAS_3" /note="PAS fold; pfam08447" /db_xref="CDD:285623" Site order(279,283,289,302..305,331,336) /site_type="active" /note="putative active site [active]" /db_xref="CDD:238075" Site order(299,303,311,314..315,343,345) /site_type="other" /note="heme pocket [chemical binding]" /db_xref="CDD:238075" Region 575..605 /region_name="HIF-1" /note="Hypoxia-inducible factor-1; pfam11413" /db_xref="CDD:288296" Region 813..849 /region_name="HIF-1a_CTAD" /note="HIF-1 alpha C terminal transactivation domain; pfam08778" /db_xref="CDD:285931" CDS 1..850 /gene="HIF1A" /gene_synonym="bHLHe78; HIF-1-alpha; HIF-1A; HIF-1alpha; HIF1; HIF1-ALPHA; MOP1; PASD8" /coded_by="NM_001243084.1:230..2782" /note="isoform 3 is encoded by transcript variant 3" /db_xref="GeneID:3091" /db_xref="HGNC:HGNC:4910" /db_xref="MIM:603348" ORIGIN 1 mssqcrslen kfvflkeglg nskpeeleei riengrisse rrkeksrdaa rsrrskesev 61 fyelahqlpl phnvsshldk asvmrltisy lrvrklldag dldieddmka qmncfylkal 121 dgfvmvltdd gdmiyisdnv nkymgltqfe ltghsvfdft hpcdheemre mlthrnglvk 181 kgkeqntqrs fflrmkctlt srgrtmniks atwkvlhctg hihvydtnsn qpqcgykkpp 241 mtclvlicep iphpsnieip ldsktflsrh sldmkfsycd eritelmgye peellgrsiy 301 eyyhaldsdh ltkthhdmft kgqvttgqyr mlakrggyvw vetqatviyn tknsqpqciv 361 cvnyvvsgii qhdlifslqq tecvlkpves sdmkmtqlft kvesedtssl fdklkkepda 421 ltllapaagd tiisldfgsn dtetddqqle evplyndvml pspneklqni nlamsplpta 481 etpkplrssa dpalnqeval klepnpesle lsftmpqiqd qtpspsdgst rqsspepnsp 541 seycfyvdsd mvnefklelv eklfaedtea knpfstqdtd ldlemlapyi pmdddfqlrs 601 fdqlspless saspesaspq stvtvfqqtq iqeptanatt ttattdelkt vtkdrmedik 661 iliaspspth ihkettsats spyrdtqsrt aspnragkgv ieqtekshpr spnvlsvals 721 qrttvpeeel npkilalqna qrkrkmehdg slfqavgigt llqqpddhaa ttslswkrvk 781 gcksseqngm eqktiilips dlacrllgqs mdesglpqlt sydcevnapi qgsrnllqge 841 ellraldqvn // LOCUS NP_689714 492 aa linear PRI 05-JUL-2020 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 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 2 (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 3 (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 4 (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 5 (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 6 (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="Pyrin: a protein-protein interaction domain; cd08305" /db_xref="CDD:260019" Region 212..379 /region_name="HIN" /note="HIN-200/IF120x domain; pfam02760" /db_xref="CDD:280856" 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_001263616 61 aa linear PRI 05-JUL-2020 DEFINITION metallothionein 1H-like protein 1 [Homo sapiens]. ACCESSION NP_001263616 VERSION NP_001263616.1 DBSOURCE REFSEQ: accession NM_001276687.2 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 61) 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 AL359259.18 and AF333388.1. Summary: This gene is a retrotransposed gene, compared to MT1H (GeneID:4496). This retrogene is transcribed. It retains a full-length CDS, and is assumed to be translated. Compared to the MT1H product, this protein product differs at three internal amino acids, two of which are at metal-binding sites. [provided by RefSeq, Mar 2013]. ##Evidence-Data-START## Transcript is intronless :: AF333388.1, BC133032.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000464121.3/ ENSP00000476141.1 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="1" /map="1q43" Protein 1..61 /product="metallothionein 1H-like protein 1" /note="MT-1H-like protein" /calculated_mol_wt=5963 Region 1..29 /region_name="Beta" /note="propagated from UniProtKB/Swiss-Prot (P0DM35.1)" Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000250|UniProtKB:P68301; propagated from UniProtKB/Swiss-Prot (P0DM35.1)" Region 5..61 /region_name="Metallothio" /note="Metallothionein; pfam00131" /db_xref="CDD:278557" Region 30..61 /region_name="Alpha" /note="propagated from UniProtKB/Swiss-Prot (P0DM35.1)" CDS 1..61 /gene="MT1HL1" /gene_synonym="MT1P2" /coded_by="NM_001276687.2:70..255" /db_xref="CCDS:CCDS31068.1" /db_xref="GeneID:645745" /db_xref="HGNC:HGNC:31864" ORIGIN 1 mdpncscaag gsyacagsck ckkckctsck ksccsccplg cakcaqgcir kgasekcscc 61 a // LOCUS NP_001074001 1100 aa linear PRI 05-JUL-2020 DEFINITION transmembrane channel-like protein 3 [Homo sapiens]. ACCESSION NP_001074001 XP_935103 VERSION NP_001074001.1 DBSOURCE REFSEQ: accession NM_001080532.3 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 1100) AUTHORS Tang W, Kowgier M, Loth DW, Soler Artigas M, Joubert BR, Hodge E, Gharib SA, Smith AV, Ruczinski I, Gudnason V, Mathias RA, Harris TB, Hansel NN, Launer LJ, Barnes KC, Hansen JG, Albrecht E, Aldrich MC, Allerhand M, Barr RG, Brusselle GG, Couper DJ, Curjuric I, Davies G, Deary IJ, Dupuis J, Fall T, Foy M, Franceschini N, Gao W, Glaser S, Gu X, Hancock DB, Heinrich J, Hofman A, Imboden M, Ingelsson E, James A, Karrasch S, Koch B, Kritchevsky SB, Kumar A, Lahousse L, Li G, Lind L, Lindgren C, Liu Y, Lohman K, Lumley T, McArdle WL, Meibohm B, Morris AP, Morrison AC, Musk B, North KE, Palmer LJ, Probst-Hensch NM, Psaty BM, Rivadeneira F, Rotter JI, Schulz H, Smith LJ, Sood A, Starr JM, Strachan DP, Teumer A, Uitterlinden AG, Volzke H, Voorman A, Wain LV, Wells MT, Wilk JB, Williams OD, Heckbert SR, Stricker BH, London SJ, Fornage M, Tobin MD, O'Connor GT, Hall IP and Cassano PA. TITLE Large-scale genome-wide association studies and meta-analyses of longitudinal change in adult lung function JOURNAL PLoS ONE 9 (7), e100776 (2014) PUBMED 24983941 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 1100) AUTHORS Beurg M, Kim KX and Fettiplace R. TITLE Conductance and block of hair-cell mechanotransducer channels in transmembrane channel-like protein mutants JOURNAL J. Gen. Physiol. 144 (1), 55-69 (2014) PUBMED 24981230 REFERENCE 3 (residues 1 to 1100) AUTHORS Davis MF, Cummings AC, D'Aoust LN, Jiang L, Velez Edwards DR, Laux R, Reinhart-Mercer L, Fuzzell D, Scott WK, Pericak-Vance MA, Lee SL and Haines JL. TITLE Parkinson disease loci in the mid-western Amish JOURNAL Hum. Genet. 132 (11), 1213-1221 (2013) PUBMED 23793441 REFERENCE 4 (residues 1 to 1100) AUTHORS Dong C, Beecham A, Wang L, Slifer S, Wright CB, Blanton SH, Rundek T and Sacco RL. TITLE Genetic loci for blood lipid levels identified by linkage and association analyses in Caribbean Hispanics JOURNAL J. Lipid Res. 52 (7), 1411-1419 (2011) PUBMED 21558551 REFERENCE 5 (residues 1 to 1100) AUTHORS Ahmad J, Khan SN, Khan SY, Ramzan K, Riazuddin S, Ahmed ZM, Wilcox ER, Friedman TB and Riazuddin S. TITLE DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1 JOURNAL Hum. Genet. 116 (5), 407-412 (2005) PUBMED 15711797 REFERENCE 6 (residues 1 to 1100) AUTHORS Kurima K, Yang Y, Sorber K and Griffith AJ. TITLE Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis JOURNAL Genomics 82 (3), 300-308 (2003) PUBMED 12906855 REFERENCE 7 (residues 1 to 1100) AUTHORS Keresztes G, Mutai H and Heller S. TITLE TMC and EVER genes belong to a larger novel family, the TMC gene family encoding transmembrane proteins JOURNAL BMC Genomics 4 (1), 24 (2003) PUBMED 12812529 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC103858.2, AY236490.1, BC157874.1 and AY263163.1. This sequence is a reference standard in the RefSeqGene project. On Jan 18, 2007 this sequence version replaced XP_935103.1. ##Evidence-Data-START## Transcript exon combination :: BC157874.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000359440.6/ ENSP00000352413.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1100 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q25.1" Protein 1..1100 /product="transmembrane channel-like protein 3" /calculated_mol_wt=125555 Site 149..169 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7Z5M5.3)" Site 193..213 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7Z5M5.3)" Site 226..246 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7Z5M5.3)" Site 264 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q7Z5M5.3)" Site 320..340 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7Z5M5.3)" Site 362..382 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7Z5M5.3)" Site 394..414 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7Z5M5.3)" Region 504..610 /region_name="TMC" /note="TMC domain; pfam07810" /db_xref="CDD:285101" Site 509..529 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7Z5M5.3)" Site 570..590 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7Z5M5.3)" Site 619..639 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7Z5M5.3)" Site 680..700 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7Z5M5.3)" CDS 1..1100 /gene="TMC3" /coded_by="NM_001080532.3:137..3439" /db_xref="CCDS:CCDS45324.1" /db_xref="GeneID:342125" /db_xref="HGNC:HGNC:22995" /db_xref="MIM:617196" ORIGIN 1 mktskasqry rgirrnasqc ylyqesllls nlddsfsade tgdsndpeqi fqniqfqkdl 61 manircrpwt mgqklralrq aknivlkfeg rltrtrgyqa agaelwrkfa rlacnfvvif 121 ipwemrikki eshfgsgvas yfiflrwlfg inivltimtg afivipelia gqpfgstark 181 tipkeqvssa qdldtvwslg gylqysvlfy gyygrerkig ragyrlplay flvgmavfay 241 sfiillkkma knsrtslasa snenytfcwr vfcawdylig npeaaeskta aivnsireai 301 leeqekkksk nlavticlri ianilvllsl agsiyliyfv vdrsqkleqs kkeltlwekn 361 evsvvvslvt miapsafdli aalemyhprt tlrfqlarvl vlylgnlysl iialldkvns 421 msieematkn ntshwidstt ffatrtapee ekwstsrpgm glrrnntwal eetsisaytm 481 plikanktsl htqspqdqcw etyvgqemlk lsiidmlftv asillidffr glfvrylsdy 541 wcwdleskfp eygefkiaen vlhlvynqgm iwmgaffspc lpafnvlkli glmylrswav 601 ltcnvphqqv frasrsnnfy lamllfmlfl cmlptifaiv rykpslncgp fsgqekiydi 661 vsetiekdfp vwfgsvvghi sspvvilpav lllfmliyyl qsiarslkls nhqlkmqiqn 721 arsedkkkva qmveariqtq eestkklpnd sdltsqlssa hsgtpqnngn vahfdsgssk 781 sgrietvaqs mpqsprpgdr apssplpgvp ksrlehetnr ylhglcasts dlhrnrsrtp 841 mtftthiedv hseplfrkdf qqinpphrgp qastllaqgp rphapryyvi necdsykkkh 901 lnvwperhfk idasgdivel yprnvrqyas rvprqppspq lseeeeetps rdwikrslpp 961 rslidlrrap hfyigerses qtrdpehqgr vhykswnedf eghlerpayv prkprsrnfq 1021 ypqpplkprg kprfepslte sdsvsaasss dqqnssadqy lqvthsqgrf prsvgqpsrr 1081 kaksgqeltv dlddlicsdv // LOCUS NP_002588 246 aa linear PRI 05-JUL-2020 DEFINITION phosducin isoform a [Homo sapiens]. ACCESSION NP_002588 VERSION NP_002588.3 DBSOURCE REFSEQ: accession NM_002597.5 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 246) AUTHORS Piotrowska U, Adler G and Kozicki I. TITLE Phosducin regulates secretory activity in TT line of thyroid parafollicular C cells JOURNAL Horm. Metab. Res. 47 (2), 114-118 (2015) PUBMED 25153685 REMARK GeneRIF: Phosducin regulates secretory activity in TT line of thyroid parafollicular C cells. REFERENCE 2 (residues 1 to 246) AUTHORS Palatini P, Ceolotto G, Ragazzo F, Mos L, Santonastaso M, Zanata G, Saladini F and Casiglia E. CONSRTM HARVEST Study Investigators TITLE Phosducin rs12402521 polymorphism predicts development of hypertension in young subjects with overweight or obesity JOURNAL Nutr Metab Cardiovasc Dis 23 (4), 323-329 (2013) PUBMED 22365573 REMARK GeneRIF: Data suggest that phosducin rs12402521 polymorphism is an important genetic predictor of obesity-related hypertension. REFERENCE 3 (residues 1 to 246) AUTHORS Broeckel U, Stoll M and Hein L. TITLE The identification of phosducin as a novel candidate gene for hypertension and its role in sympathetic activation JOURNAL Curr. Opin. Nephrol. Hypertens. 20 (2), 118-124 (2011) PUBMED 21191291 REMARK GeneRIF: identification of Pdc as a gene for stress-induced hypertension offers new insights into the relationship between sympathetic nervous system activation, blood pressure regulation and genetic factors Review article REFERENCE 4 (residues 1 to 246) AUTHORS Piotrowska U and Adler G. TITLE Phosducin and monomeric beta-actin have common epitope recognized by anti-phosducin antibodies JOURNAL Immunol. Lett. 134 (1), 62-68 (2010) PUBMED 20804785 REMARK GeneRIF: Data suggest that the existence of a common epitope on the molecules of phosducin and beta-actin may reflect a topological similarity of a small region of their surfaces. REFERENCE 5 (residues 1 to 246) AUTHORS Beetz N, Harrison MD, Brede M, Zong X, Urbanski MJ, Sietmann A, Kaufling J, Lorkowski S, Barrot M, Seeliger MW, Vieira-Coelho MA, Hamet P, Gaudet D, Seda O, Tremblay J, Kotchen TA, Kaldunski M, Nusing R, Szabo B, Jacob HJ, Cowley AW Jr, Biel M, Stoll M, Lohse MJ, Broeckel U and Hein L. TITLE Phosducin influences sympathetic activity and prevents stress-induced hypertension in humans and mice JOURNAL J. Clin. Invest. 119 (12), 3597-3612 (2009) PUBMED 19959875 REMARK GeneRIF: Candidate gene-based association studies in 2 different populations revealed several SNPs in the PDC gene to be associated with stress-dependent blood pressure phenotypes. Erratum:[J Clin Invest. 2011 Jan 4;121(1):454. Lorkowski, Stefan [added]] REFERENCE 6 (residues 1 to 246) AUTHORS Hawes BE, Touhara K, Kurose H, Lefkowitz RJ and Inglese J. TITLE Determination of the G beta gamma-binding domain of phosducin. A regulatable modulator of G beta gamma signaling JOURNAL J. Biol. Chem. 269 (47), 29825-29830 (1994) PUBMED 7961975 REFERENCE 7 (residues 1 to 246) AUTHORS Abe T, Kikuchi T and Shinohara T. TITLE The sequence of the human phosducin gene (PDC) and its 5'-flanking region JOURNAL Genomics 19 (2), 369-372 (1994) PUBMED 8188267 REFERENCE 8 (residues 1 to 246) AUTHORS Lee RH, Brown BM and Lolley RN. TITLE Protein kinase A phosphorylates retinal phosducin on serine 73 in situ JOURNAL J. Biol. Chem. 265 (26), 15860-15866 (1990) PUBMED 2394752 REFERENCE 9 (residues 1 to 246) AUTHORS Watanabe Y, Kawasaki K, Miki N and Kuo CH. TITLE Isolation and analysis of the human MEKA gene encoding a retina-specific protein JOURNAL Biochem. Biophys. Res. Commun. 170 (2), 951-956 (1990) PUBMED 2383274 REFERENCE 10 (residues 1 to 246) AUTHORS Abe T, Nakabayashi H, Tamada H, Takagi T, Sakuragi S, Yamaki K and Shinohara T. TITLE Analysis of the human, bovine and rat 33-kDa proteins and cDNA in retina and pineal gland JOURNAL Gene 91 (2), 209-215 (1990) PUBMED 2210381 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL663036.5, EL945964.1, BC093839.1, BM715757.1 and BM674109.1. This sequence is a reference standard in the RefSeqGene project. On Jul 18, 2003 this sequence version replaced NP_002588.2. Summary: This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (1), also known as PHD, 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 :: M33478.1, AL712565.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2149398, SAMEA2151119 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000391997.3/ ENSP00000375855.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..246 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q31.1" Protein 1..246 /product="phosducin isoform a" /note="G beta gamma binding protein; phosducin-like orphan protein; 33 kDa phototransducing protein" /calculated_mol_wt=28115 Region 1..246 /region_name="Phosducin" /note="Phosducin; pfam02114" /db_xref="CDD:251094" Region 14..225 /region_name="Phd_like_Phd" /note="Phosducin (Phd)-like family, Phd subfamily; Phd is a cytosolic regulator of G protein functions. It specifically binds G protein betagamma (Gbg)-subunits with high affinity, resulting in the solubilization of Gbg from the plasma membrane. This impedes...; cd02987" /db_xref="CDD:239285" Site order(14,17..20,23,25..26,28,94,98,193,196..200,223..225) /site_type="other" /note="G protein beta interface [polypeptide binding]" /db_xref="CDD:239285" Site 73 /site_type="phosphorylation" /note="Phosphoserine, by PKA. /evidence=ECO:0000250|UniProtKB:P19632; propagated from UniProtKB/Swiss-Prot (P20941.1)" Region 111..246 /region_name="Thioredoxin fold. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (P20941.1)" CDS 1..246 /gene="PDC" /gene_synonym="MEKA; PHD; PhLOP; PhLP" /coded_by="NM_002597.5:81..821" /note="isoform a is encoded by transcript variant 1" /db_xref="CCDS:CCDS1370.1" /db_xref="GeneID:5132" /db_xref="HGNC:HGNC:8759" /db_xref="MIM:171490" ORIGIN 1 meeaksqsle edfegqatht gpkgvindwr kfklesqdsd sippskkeil rqmsspqsrn 61 gkdskervsr kmsiqeyeli hkekedencl rkyrrqcmqd mhqklsfgpr ygfvyeletg 121 kqfletieke lkittivvhi yedgikgcda lnssltclaa eypivkfcki kasntgagdr 181 fsldvlptll iykggelisn fisvaeqfae effagdvesf lneygllper evhvlehtki 241 eeedve // LOCUS NP_001177719 281 aa linear PRI 05-JUL-2020 DEFINITION CMT1A duplicated region transcript 15 protein-like protein [Homo sapiens]. ACCESSION NP_001177719 XP_001725838 XP_170840 VERSION NP_001177719.1 DBSOURCE REFSEQ: accession NM_001190790.2 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 281) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AA446206.1 and AI016778.1. On or before Jun 30, 2010 this sequence version replaced XP_170840.3, XP_001725838.1. ##Evidence-Data-START## Transcript exon combination :: AA446206.1, SRR5189667.341541.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000399044.1/ ENSP00000382000.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..281 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17p11.2" Protein 1..281 /product="CMT1A duplicated region transcript 15 protein-like protein" /calculated_mol_wt=29969 Site 207..227 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A8MXV6.1)" CDS 1..281 /gene="CDRT15L2" /coded_by="NM_001190790.2:21..866" /db_xref="CCDS:CCDS54096.1" /db_xref="GeneID:256223" /db_xref="HGNC:HGNC:34075" ORIGIN 1 mfsccfptsr gccfrnggse slfrqcrrrl iphprrlwpf vrrrtqvpqd spgqalagqa 61 tpeipsglpl hivlvqeeir epmeaqthap gpyadiaala apavepkpaw eeppperale 121 vegapakdqp sqelpeimap tvatglnaga envagersgr egvtstapas rshaapspgh 181 ggkhgggdqg iqtgllylag erllsfagtt alllqglfiv lilvgyisvk vmlksiktrl 241 grrvpaappa lrrnlllqaw kcvcnwasrl fapnvlprtg s // LOCUS NP_001073873 531 aa linear PRI 05-JUL-2020 DEFINITION zinc finger protein 878 [Homo sapiens]. ACCESSION NP_001073873 XP_001131188 VERSION NP_001073873.2 DBSOURCE REFSEQ: accession NM_001080404.3 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 531) 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 REFERENCE 2 (residues 1 to 531) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA007842.1, BQ222464.1 and AC022415.5. On May 11, 2011 this sequence version replaced NP_001073873.1. 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 :: BQ222464.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000547628.2/ ENSP00000447931.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..531 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.2" Protein 1..531 /product="zinc finger protein 878" /calculated_mol_wt=61409 Region 4..>46 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 4..43 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" Region 122..521 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 145..165 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(145,148,161,165) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 157..181 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region <170..210 /region_name="DUF45" /note="Protein of unknown function DUF45; cl19237" /db_xref="CDD:302795" Region 173..193 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(173,176,189,193) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 201..221 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(201,204,217,221) /site_type="other" /note="Zn binding site [ion binding]" /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 213..236 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 229..249 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(229,232,245,249) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 241..266 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 257..277 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(257,260,273,277) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 269..294 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 285..305 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(285,288,301,305) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 297..320 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 313..333 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(313,316,329,333) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 341..361 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(341,344,357,361) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 353..378 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 369..389 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(369,372,385,389) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 385..406 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 397..417 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(397,400,413,417) /site_type="other" /note="Zn binding site [ion binding]" /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" Site order(425,428,441,445) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 438..460 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 453..473 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(453,456,469,473) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 465..488 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 481..501 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(481,484,497,501) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 493..518 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 509..529 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(509,512,525,529) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..531 /gene="ZNF878" /coded_by="NM_001080404.3:161..1756" /db_xref="CCDS:CCDS45984.2" /db_xref="GeneID:729747" /db_xref="HGNC:HGNC:37246" ORIGIN 1 mdsvafedva vnftqeewal ldpsqknlyr evmqetlrnl tsigkkwnnq yiedehqnpr 61 rnlrrliger lseskeshqh gevltqvpdd tlkkktpgvq syessvcgei giglsslnrh 121 lrafsysssl aihgrthtge kpyeckecgk afrfpssvrr herihsakkp yeckqcgkaf 181 sfpssvrrhe rihsakkpye ckqcgkalsy lvsfqthmrm htgerphkcn icgkaffsps 241 slkrheksht gekrykckqc dkafncpssf qyherthsge kpyectqcrk afrsvkylrv 301 herkhtgekp yecklcgkgf isstsfryhe kthtgekpye ckkcvkafsf vkdlrihert 361 htgekpfeck qcgktftssn sfhyhertht gekpyeckqc gkafrsasvl qkhirthtge 421 kpygckqcgk vfrvasqlkm herthtgekp yeckqcgkaf issnsiryhk rthtgekpyk 481 ckqcgkafis snsflyheri htgekpyeck qcgkafrsas ilqkhvrtha g // LOCUS NP_001264301 1181 aa linear PRI 05-JUL-2020 DEFINITION uncharacterized protein KIAA2012 isoform 1 [Homo sapiens]. ACCESSION NP_001264301 XP_011508770 VERSION NP_001264301.2 DBSOURCE REFSEQ: accession NM_001277372.4 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 Anney RJ, Lasky-Su J, O'Dushlaine C, Kenny E, Neale BM, Mulligan A, Franke B, Zhou K, Chen W, Christiansen H, Arias-Vasquez A, Banaschewski T, Buitelaar J, Ebstein R, Miranda A, Mulas F, Oades RD, Roeyers H, Rothenberger A, Sergeant J, Sonuga-Barke E, Steinhausen H, Asherson P, Faraone SV and Gill M. TITLE Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 147B (8), 1369-1378 (2008) PUBMED 18951430 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC069148.6 and AC079354.4. On or before Jun 9, 2016 this sequence version replaced XP_011508770.1, NP_001264301.1. 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 SAMEA2158569, SAMN03267765 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000498697.3/ ENSP00000419834.2 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1181 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q33.1" Protein 1..1181 /product="uncharacterized protein KIAA2012 isoform 1" /calculated_mol_wt=135991 Region 624..1137 /region_name="DUF4670" /note="Domain of unknown function (DUF4670); pfam15709" /db_xref="CDD:292337" Region 1030..1120 /region_name="PRKG1_interact" /note="cGMP-dependent protein kinase interacting domain; pfam15898" /db_xref="CDD:292521" Region <1081..>1140 /region_name="TAF4" /note="TATA Binding Protein (TBP) Associated Factor 4 (TAF4) is one of several TAFs that bind TBP and is involved in forming Transcription Factor IID (TFIID) complex; cl05005" /db_xref="CDD:296797" CDS 1..1181 /gene="KIAA2012" /coded_by="NM_001277372.4:374..3919" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS74631.2" /db_xref="GeneID:100652824" /db_xref="HGNC:HGNC:51250" ORIGIN 1 mftlsllsrg hgklgqdkqk levyfepedy lnwrspedyv pvskpqdknn asqhswslfl 61 pktfstrkga lilysegfai sawtpkerrk gpycprgpwr kldlelhtlq dlkeailayg 121 rqqgeqdraw qpylhfrsql esqaqrqiqp ghsakrylrg llrtwppdam yrlwcagyik 181 dsvllqdsql nvpkklrpqq dlsgvppkyh llpvfpsfwi qqgksfeqrq qgldegeaga 241 aghvdqgpla knhgsqgtrl pprrkqpwqe detqaedtsi enhlclyask esynektqqt 301 srkafghgri dhswlpsdks hitfcggafp nrkadlsdkq rnvklhkars shllqvlpae 361 rslfppvasa tgsriitpge vkkkkapkal klppiseepp rvleplksqf kanepptelf 421 ilpveihyht kqppkekahr rgaphpesep esseestpvw rpplkhasle tpweltvhlp 481 vdasrdtlsp qdddapphdv appldllppi kgkkspesqk gvdsprtsdh nsppslpnmr 541 vprralpaaq edssdptlgh fllgpdgekv clslpghtqt ealpsgkaye svnsnishee 601 egpssqhflk antepranlh mnlyetsplt qttekqgaqq sleaaaqktg epqscinkal 661 icsnrkefyt rklhidmtpf lkesgnaldy qeeagrplre thhndqdpep rsmtldspra 721 srtehiqtpe adivqkvgrd ydvhhlhrgl lgygpesper lsavytsllp reregkaepr 781 lfsqetsani sherdlinea krkekpkkdk tkgpksereg kvygqaeaai gkskdskakk 841 klekktrpqr krtqkernle iaaelsgpdv syeetedtsn rgsfasdsfv edpwlspkyd 901 aqesqvsldg rsspsqiatv tgnmeskeer rcedpskall tkreqekasw drlraeraem 961 rwlevekkrr eqeeqrqlqq eqlerakkme eeleleqqrr teeirlrkqr lqeeqqrqee 1021 eerkqqlrlk aaqerarqqq eefrrklrel qrkkqqeeae raeaekqrqe elemqleeeq 1081 khlmemaeee rleyqrrkqe aeekarleae errqkeeeaa rlaleeatkq aqeqarqkaa 1141 lekhfhfyqe lhkeasglqw tqnisrpwvy syfqflqipr p // LOCUS NP_853647 65 aa linear PRI 05-JUL-2020 DEFINITION keratin-associated protein 20-2 [Homo sapiens]. ACCESSION NP_853647 VERSION NP_853647.1 DBSOURCE REFSEQ: accession NM_181616.3 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 65) 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 and AB096957.1. ##Evidence-Data-START## Transcript is intronless :: AB096957.1, BC111084.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000330798.3/ ENSP00000330746.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..65 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21q22.11" Protein 1..65 /product="keratin-associated protein 20-2" /calculated_mol_wt=6830 CDS 1..65 /gene="KRTAP20-2" /gene_synonym="KAP20.2" /coded_by="NM_181616.3:59..256" /db_xref="CCDS:CCDS13604.1" /db_xref="GeneID:337976" /db_xref="HGNC:HGNC:18944" ORIGIN 1 mcyysnyygg lrygygvlgg gygcgcgygh gygglgcgyg rgyggygygc crpscygryw 61 scgfy // LOCUS NP_001074467 278 aa linear PRI 05-JUL-2020 DEFINITION protein FRG2-like-1 [Homo sapiens]. ACCESSION NP_001074467 XP_932657 VERSION NP_001074467.1 DBSOURCE REFSEQ: accession NM_001080998.2 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 278) AUTHORS Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR and van der Maarel SM. TITLE FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients JOURNAL J. Med. Genet. 41 (11), 826-836 (2004) PUBMED 15520407 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AY744466.1 and AL731696.4. On Feb 7, 2007 this sequence version replaced XP_932657.1. ##Evidence-Data-START## Transcript exon combination :: AY744466.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000425520.2/ ENSP00000401310.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..278 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10q26.3" Protein 1..278 /product="protein FRG2-like-1" /note="HSA10-FRG2; FSHD region gene 2 protein family member B" /calculated_mol_wt=30433 Region 61..241 /region_name="FRG2" /note="Facioscapulohumeral muscular dystrophy candidate 2; pfam15315" /db_xref="CDD:291961" CDS 1..278 /gene="FRG2B" /coded_by="NM_001080998.2:54..890" /db_xref="CCDS:CCDS44502.1" /db_xref="GeneID:441581" /db_xref="HGNC:HGNC:33518" ORIGIN 1 mgkgnedpdl hcssiqcstd qppfqqisft ekgsdekkpf kekgktafsh ssekhiqrqg 61 sepnpnkens eetklkagns tagsepesss yrencrkrkm sskdscqdta gncpekecsl 121 slnkksrsst pvhnseiqet cdahhrgrsr actgrskrhr sralgvqtps irkslvtsvr 181 amseavyqdl aqvwaqqihs pltceqltll trlrgplcaq vqtlysmatq aayvfpaesw 241 lvpatlpgpg esaldreahp fpgqeitetv sgsdeakl // LOCUS NP_001350440 285 aa linear PRI 05-JUL-2020 DEFINITION MARCO-like protein precursor [Homo sapiens]. ACCESSION NP_001350440 XP_011536019 VERSION NP_001350440.1 DBSOURCE REFSEQ: accession NM_001363511.2 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 285) 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 AC011346.5. On May 24, 2018 this sequence version replaced XP_011536019.1. 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 :: SRR5189658.165922.1, SRR5189658.187514.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148093, SAMEA2153307 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000638089.2/ ENSP00000490292.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..285 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q32" Protein 1..285 /product="MARCO-like protein precursor" /note="CTC-295J13.3; mARCO-like protein" /calculated_mol_wt=27462 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2332 Site 24 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255, ECO:0000255|PROSITE-ProRule:PRU00498; propagated from UniProtKB/Swiss-Prot (A0A1B0GUY1.1)" Region 51..>283 /region_name="Glutenin_hmw" /note="High molecular weight glutenin subunit; pfam03157" /db_xref="CDD:281191" CDS 1..285 /gene="MARCOL" /coded_by="NM_001363511.2:74..931" /db_xref="CCDS:CCDS87333.1" /db_xref="GeneID:105378220" /db_xref="HGNC:HGNC:53644" ORIGIN 1 mrafifflfm llamfsasst qisntsvfkl eenpkpalil eekneanhlg gqrdsnkqgg 61 sytqgnpgtf rlqgqpgyfn klekprhfkq gragvlnqpg ilknsgksnq kgnpessnkq 121 ensgsssqlg rpgistqqgn pgssdqqekp gsfsqkvmvg sssqqgkpgs ssqhgnlgss 181 tqkgnlgsss lqghlglssh qgkpessgqq gkpgsssqqg nlgtsgqqek pgsssqqgkp 241 glsshqgkpg sssqqgnlhl ssqqgnqgps skqrkpgsss rqgnl // LOCUS NP_001010876 128 aa linear PRI 05-JUL-2020 DEFINITION transmembrane protein 244 [Homo sapiens]. ACCESSION NP_001010876 XP_173166 VERSION NP_001010876.1 DBSOURCE REFSEQ: accession NM_001010876.2 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 128) 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 AL451046.8. On Jan 27, 2005 this sequence version replaced XP_173166.1. 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 :: BM931155.1, BM684606.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2155628 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000368143.6/ ENSP00000357125.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..128 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6q22.33" Protein 1..128 /product="transmembrane protein 244" /note="putative transmembrane protein C6orf191" /calculated_mol_wt=14525 Site 17..37 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q5VVB8.1)" Site 65..85 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q5VVB8.1)" Site 93..113 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q5VVB8.1)" CDS 1..128 /gene="TMEM244" /gene_synonym="bA174C7.4; C6orf191" /coded_by="NM_001010876.2:128..514" /db_xref="CCDS:CCDS34536.1" /db_xref="GeneID:253582" /db_xref="HGNC:HGNC:21571" ORIGIN 1 malqvrvaps kvvlqkfllc vilfytvyyv slsmgcvmfe vhelnvlapf dfktnpswln 61 inykvllvst evtyfvcglf fvpvveewvw dyaisvtilh vaitstvmle fpltshwwaa 121 lgiskllv // LOCUS NP_001096067 596 aa linear PRI 05-JUL-2020 DEFINITION carcinoembryonic antigen-related cell adhesion molecule 20 isoform 5L precursor [Homo sapiens]. ACCESSION NP_001096067 VERSION NP_001096067.2 DBSOURCE REFSEQ: accession NM_001102597.3 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 596) AUTHORS Daniwijaya EW, Murata Y, Kotani T, Kitamura Y, Mantilidewi KI, Kusakari S, Ohnishi H, Okazawa H and Matozaki T. TITLE Tyrosine Phosphorylation of Carcinoembryonic Antigen-related Cell Adhesion Molecule 20 and Its Functional Role JOURNAL Kobe J Med Sci 59 (5), E172-E183 (2013) PUBMED 28659570 REMARK GeneRIF: tyrosine phosphorylation of CEACAM20 likely promotes phagocytic activity Publication Status: Online-Only REFERENCE 2 (residues 1 to 596) AUTHORS Zhang H, Eisenried A, Zimmermann W and Shively JE. TITLE Role of CEACAM1 and CEACAM20 in an in vitro model of prostate morphogenesis JOURNAL PLoS ONE 8 (1), e53359 (2013) PUBMED 23358633 REMARK GeneRIF: conclude that CEACAM20 and CEACAM1 not only mark the lumina of adult prostate tissue but also play a critical role in the vitro generation of prostate organoids REFERENCE 3 (residues 1 to 596) AUTHORS Zebhauser R, Kammerer R, Eisenried A, McLellan A, Moore T and Zimmermann W. TITLE Identification of a novel group of evolutionarily conserved members within the rapidly diverging murine Cea family JOURNAL Genomics 86 (5), 566-580 (2005) PUBMED 16139472 REFERENCE 4 (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 AC245748.2, EU008600.1 and AY358129.1. On Feb 11, 2014 this sequence version replaced NP_001096067.1. Transcript Variant: This variant (5L) represents the longest transcript and encodes the longest isoform (5L). ##Evidence-Data-START## Transcript exon combination :: EU008600.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000614924.5/ ENSP00000481937.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..596 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.31" Protein 1..596 /product="carcinoembryonic antigen-related cell adhesion molecule 20 isoform 5L precursor" /note="GPAD9366; carcinoembryonic antigen related cell adhesion molecule 20" /calculated_mol_wt=62675 sig_peptide 1..30 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3151 Region 69..156 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:325142" Site 96 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Site 105 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Region 171..234 /region_name="Ig_3" /note="Immunoglobulin domain; pfam13927" /db_xref="CDD:316449" Region 266..343 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:325142" Site 280 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Site 306 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Site 317 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Region 361..420 /region_name="Ig_3" /note="Immunoglobulin domain; pfam13927" /db_xref="CDD:316449" Site 368 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Site 415 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Site 451..471 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Site 578 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0000250|UniProtKB:Q9D2Z1; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Site 589 /site_type="phosphorylation" /note="Phosphotyrosine. /evidence=ECO:0000250|UniProtKB:Q9D2Z1; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" CDS 1..596 /gene="CEACAM20" /gene_synonym="UNQ9366" /coded_by="NM_001102597.3:167..1957" /note="isoform 5L precursor is encoded by transcript variant 5L" /db_xref="CCDS:CCDS74393.1" /db_xref="GeneID:125931" /db_xref="HGNC:HGNC:24879" ORIGIN 1 mgpadswghh wmgillsasl ctvwsppaaa qltlnanpld atqsedvvlp vfgtprtpqi 61 hgrsrelakp siavspgtai eqkdmvtfyc ttkdvnitih wvsnnlsivf hermqlskdg 121 kiltilivqr edsgtyqcea rdallsqrsd pifldvkygp dpveiklesg vasgevvevm 181 egssmtflae tkshppcayt wflldsilsh ttrtftihav sreheglyrc lvsnsathls 241 slgtlkvrvl etltmpqvvp sslnlvenar svdltcqtvn qsvnvqwfls gqpllpsehl 301 qlsadnrtli ihglqrndtg pyacevwnwg srarseplel tinygpdqvh itresasemi 361 stieaelnss ltlqcwaesk pgaeyrwtle hstgehlgeq liiraltweh dgiynctasn 421 sltglarsts vlvkvvgpqs sslssgaiag ivigilavia vaselgyflc irnarrpsrk 481 ttedpshets qpipkeehpt epsseslspe yrnisqlqgr irvelmqppd lpeetyetkl 541 psasrrgnsf spwkpppkpl mpplrlvstv pknmesiyee lvnpepntyi qinpsv // LOCUS NP_115991 543 aa linear PRI 05-JUL-2020 DEFINITION gap junction alpha-10 protein [Homo sapiens]. ACCESSION NP_115991 VERSION NP_115991.1 DBSOURCE REFSEQ: accession NM_032602.2 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 543) 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 2 (residues 1 to 543) AUTHORS Sohl G, Nielsen PA, Eiberger J and Willecke K. TITLE Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues JOURNAL Cell Commun. Adhes. 10 (1), 27-36 (2003) PUBMED 12881038 REMARK GeneRIF: expression pattern differs from mouse ortholog COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL353692.14. Summary: Connexins, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[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 is intronless :: AF296766.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000369352.1/ ENSP00000358358.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..543 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6q15" Protein 1..543 /product="gap junction alpha-10 protein" /note="connexin 62; gap junction protein, alpha 10, 62kDa" /calculated_mol_wt=61741 Region 3..235 /region_name="Connexin" /note="pfam00029" /db_xref="CDD:365820" Site 17..37 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q969M2.1)" Site 77..97 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q969M2.1)" Site 166..186 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q969M2.1)" Site 210..230 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q969M2.1)" CDS 1..543 /gene="GJA10" /gene_synonym="CX62" /coded_by="NM_032602.2:1..1632" /db_xref="CCDS:CCDS5025.1" /db_xref="GeneID:84694" /db_xref="HGNC:HGNC:16995" /db_xref="MIM:611924" ORIGIN 1 mgdwnllggi leevhshsti vgkiwltilf ifrmlvlrva aedvwddeqs afacntrqpg 61 cnnicyddaf pislirfwvl qiifvsspsl vymghalyrl rafekdrqrk kshlraqmen 121 pdldleeqqr idrelrrlee qkrihkvplk gcllrtyvlh iltrsvlevg fmigqyilyg 181 fqmhplykct qppcpnavdc fvsrptekti fmlfmhsiaa islllnilei fhlgirkimr 241 tlykkssseg iedetgppfh lkkysvaqqc micsslperi splqannqqq virvnvpksk 301 tmwqipqprq levdpsngkk dwsekdqhsg qlhvhspcpw agsagnqhlg qqsdhssfgl 361 qntmsqswlg tttaprncps favgtweqsq dpepsgeplt dlhshcrdse gsmresgvwi 421 drsrpgsrka sflsrllsek rhlhsdsgss gsrnsscldf phwenspspl psvtghrtsm 481 vrqaalpime lsqelfhsgc flfpfflpgv cmyvcvdrea dgggdylwrd kiihsihsvk 541 fns // LOCUS NP_004129 404 aa linear PRI 05-JUL-2020 DEFINITION keratin, type I cuticular Ha3-I [Homo sapiens]. ACCESSION NP_004129 VERSION NP_004129.2 DBSOURCE REFSEQ: accession NM_004138.4 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 404) 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 2 (residues 1 to 404) AUTHORS Schweizer J, Bowden PE, Coulombe PA, Langbein L, Lane EB, Magin TM, Maltais L, Omary MB, Parry DA, Rogers MA and Wright MW. TITLE New consensus nomenclature for mammalian keratins JOURNAL J. Cell Biol. 174 (2), 169-174 (2006) PUBMED 16831889 REFERENCE 3 (residues 1 to 404) AUTHORS Rogers MA, Winter H, Langbein L, Bleiler R and Schweizer J. TITLE The human type I keratin gene family: characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain JOURNAL Differentiation 72 (9-10), 527-540 (2004) PUBMED 15617563 REFERENCE 4 (residues 1 to 404) AUTHORS Langbein L, Rogers MA, Winter H, Praetzel S, Beckhaus U, Rackwitz HR and Schweizer J. TITLE The catalog of human hair keratins. I. Expression of the nine type I members in the hair follicle JOURNAL J. Biol. Chem. 274 (28), 19874-19884 (1999) PUBMED 10391933 REFERENCE 5 (residues 1 to 404) AUTHORS Rogers MA, Winter H, Wolf C, Heck M and Schweizer J. TITLE Characterization of a 190-kilobase pair domain of human type I hair keratin genes JOURNAL J. Biol. Chem. 273 (41), 26683-26691 (1998) PUBMED 9756910 REFERENCE 6 (residues 1 to 404) AUTHORS Rogers MA, Schweizer J, Kreig T and Winter H. TITLE A novel human type I hair keratin gene: evidence for two keratin hHa3 isoforms JOURNAL Mol. Biol. Rep. 20 (3), 155-161 (1994) PUBMED 7565656 REFERENCE 7 (residues 1 to 404) 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 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff in collaboration with Michael Rogers. The reference sequence was derived from AC003958.3 and AJ633621.2. This sequence is a reference standard in the RefSeqGene project. On Jul 19, 2001 this sequence version replaced NP_004129.1. Summary: This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012]. ##Evidence-Data-START## Transcript exon combination :: AJ633621.2, BC069135.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000007735.4/ ENSP00000007735.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..404 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q21.2" Protein 1..404 /product="keratin, type I cuticular Ha3-I" /note="hard keratin, type I,3I; keratin, hair, acidic, 3A; hair keratin, type I Ha3-I; keratin 33A, type I" /calculated_mol_wt=45809 Region 1..56 /region_name="Head" /note="propagated from UniProtKB/Swiss-Prot (O76009.2)" Region 55..366 /region_name="Filament" /note="Intermediate filament protein; pfam00038" /db_xref="CDD:278467" Region 57..91 /region_name="Coil 1A" /note="propagated from UniProtKB/Swiss-Prot (O76009.2)" Region 92..102 /region_name="Linker 1" /note="propagated from UniProtKB/Swiss-Prot (O76009.2)" Region 103..203 /region_name="Coil 1B" /note="propagated from UniProtKB/Swiss-Prot (O76009.2)" Region 204..219 /region_name="Linker 12" /note="propagated from UniProtKB/Swiss-Prot (O76009.2)" Region 220..363 /region_name="Coil 2" /note="propagated from UniProtKB/Swiss-Prot (O76009.2)" Site 305 /site_type="other" /note="Stutter; propagated from UniProtKB/Swiss-Prot (O76009.2)" Region 364..404 /region_name="Tail" /note="propagated from UniProtKB/Swiss-Prot (O76009.2)" CDS 1..404 /gene="KRT33A" /gene_synonym="Ha-3I; HA3I; hHa3-I; K33A; Krt1-3; KRTHA3A" /coded_by="NM_004138.4:62..1276" /db_xref="CCDS:CCDS11388.1" /db_xref="GeneID:3883" /db_xref="HGNC:HGNC:6450" /db_xref="MIM:602761" ORIGIN 1 msyscglpsl scrtscssrp cvppschgct lpgacnipan vsncnwfceg sfngseketm 61 qflndrlasy lekvrqlerd naelenlire rsqqqeplvc asyqsyfkti eelqqkilcs 121 ksenarlvvq idnaklasdd frtkyetels lrqlvesdin glrrildelt lcrsdleaqv 181 eslkeellcl kqnheqevnt lrcqlgdrln vevdaaptvd lnqvlnetrs qyealvetnr 241 reveqwfatq teelnkqvvs sseqlqsyqa eiielrrtvn aleielqaqh nlrdslentl 301 tesearyssq lsqvqrlitn vesqlaeirs dlerqnqeyq vlldvrarle ceintyrsll 361 esedcklpsn pcattnacdk stgpcisnpc glrarcgpcn tfgy // LOCUS NP_116324 62 aa linear PRI 05-JUL-2020 DEFINITION metallothionein-4 [Homo sapiens]. ACCESSION NP_116324 VERSION NP_116324.2 DBSOURCE REFSEQ: accession NM_032935.3 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 62) 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: MT4 expression is significantly downregulated in human masticatory mucosa during wound healing REFERENCE 2 (residues 1 to 62) AUTHORS Chen HI, Chiu YW, Hsu YK, Li WF, Chen YC and Chuang HY. TITLE The association of metallothionein-4 gene polymorphism and renal function in long-term lead-exposed workers JOURNAL Biol Trace Elem Res 137 (1), 55-62 (2010) PUBMED 19921116 REMARK GeneRIF: The association of metallothionein-4 gene polymorphism and renal function in long-term lead-exposed workers GeneRIF: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) REFERENCE 3 (residues 1 to 62) AUTHORS Quaife CJ, Findley SD, Erickson JC, Froelick GJ, Kelly EJ, Zambrowicz BP and Palmiter RD. TITLE Induction of a new metallothionein isoform (MT-IV) occurs during differentiation of stratified squamous epithelia JOURNAL Biochemistry 33 (23), 7250-7259 (1994) PUBMED 8003488 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC026461.11. On May 17, 2019 this sequence version replaced NP_116324.1. ##Evidence-Data-START## Transcript exon combination :: BC113442.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000219162.4/ ENSP00000219162.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..62 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16q13" Protein 1..62 /product="metallothionein-4" /note="metallothionein-IV" /calculated_mol_wt=6378 Region 5..61 /region_name="Metallothio" /note="Metallothionein; pfam00131" /db_xref="CDD:333865" CDS 1..62 /gene="MT4" /gene_synonym="MT-4; MT-IV; MTIV" /coded_by="NM_032935.3:57..245" /db_xref="CCDS:CCDS42165.1" /db_xref="GeneID:84560" /db_xref="HGNC:HGNC:18705" /db_xref="MIM:606206" ORIGIN 1 mdprecvcms ggicmcgdnc kcttcnckty wksccpccpp gcakcargci ckggsdkcsc 61 cp // LOCUS NP_115906 148 aa linear PRI 05-JUL-2020 DEFINITION lysozyme-like protein 1 precursor [Homo sapiens]. ACCESSION NP_115906 VERSION NP_115906.4 DBSOURCE REFSEQ: accession NM_032517.6 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 148) 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 2 (residues 1 to 148) AUTHORS Uhl GR, Liu QR, Drgon T, Johnson C, Walther D, Rose JE, David SP, Niaura R and Lerman C. TITLE Molecular genetics of successful smoking cessation: convergent genome-wide association study results JOURNAL Arch. Gen. Psychiatry 65 (6), 683-693 (2008) PUBMED 18519826 REMARK GeneRIF: Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) REFERENCE 3 (residues 1 to 148) 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 148) 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 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 BP369317.1, BC021730.2, BF057063.1, AI393331.1, BG209290.1 and AL158167.15. On Jul 26, 2018 this sequence version replaced NP_115906.3. CCDS Note: The coding region has been updated to start at a downstream in-frame start codon that is supported by conservation data. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.60363.1, SRR5189667.180902.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [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 :: ENST00000649382.2/ ENSP00000498092.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..148 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10p12.1-p11.23" Protein 1..148 /product="lysozyme-like protein 1 precursor" /EC_number="3.2.1.17" /note="lysozyme-like protein 1; lysozyme D1" /calculated_mol_wt=14824 sig_peptide 1..19 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1848 Region 20..143 /region_name="LYZ1" /note="C-type lysozyme (1, 4-beta-N-acetylmuramidase, LYZ) and alpha-lactalbumin (lactose synthase B protein, LA). They have a close evolutionary relationship and similar tertiary structure, however, functionally they are quite different. Lysozymes have...; cd00119" /db_xref="CDD:238066" Site order(53..54,56,63,76,78,81,116,119,125..126) /site_type="active" /note="lysozyme catalytic cleft [active]" /db_xref="CDD:238066" Site order(54,71) /site_type="active" /note="lysozyme catalytic site [active]" /db_xref="CDD:238066" Site 58 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UWQ5.2)" Site order(103,108..109) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238066" CDS 1..148 /gene="LYZL1" /gene_synonym="bA534G20.1; KAAG648; LYC2; LYZD1; PRO1278" /coded_by="NM_032517.6:187..633" /db_xref="CCDS:CCDS31174.1" /db_xref="GeneID:84569" /db_xref="HGNC:HGNC:30502" ORIGIN 1 mkaagiltli gclvtgaesk iytrcklaki fsragldnyw gfslgnwicm ayyesgyntt 61 aqtvlddgsi dygifqinsf awcrrgklke nnhchvacsa litddltdai icarkivket 121 qgmnywqgwk khcegrdlse wkkgcevs // LOCUS NP_001138432 544 aa linear PRI 05-JUL-2020 DEFINITION protein ANKUB1 isoform 1 [Homo sapiens]. ACCESSION NP_001138432 XP_001131739 XP_001132074 XP_001717496 VERSION NP_001138432.1 DBSOURCE REFSEQ: accession NM_001144960.3 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 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 BC171805.1, AK304359.1 and AC069216.13. On or before Feb 1, 2009 this sequence version replaced XP_001131739.2, XP_001132074.1, XP_001717496.1. 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. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2144333 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000446160.7/ ENSP00000387907.1 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="3q25.1" Protein 1..544 /product="protein ANKUB1 isoform 1" /note="protein ANKUB1" /calculated_mol_wt=61099 Region 1..78 /region_name="UBQ" /note="Ubiquitin homologues; smart00213" /db_xref="CDD:214563" Region 9..78 /region_name="UBQ" /note="Ubiquitin-like proteins; cl00155" /db_xref="CDD:294102" Region 195..>296 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 195..229 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 243..294 /region_name="Ank_4" /note="Ankyrin repeats (many copies); pfam13637" /db_xref="CDD:290365" Region 243..271 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" CDS 1..544 /gene="ANKUB1" /gene_synonym="C3orf16" /coded_by="NM_001144960.3:189..1823" /note="isoform 1 is encoded by transcript variant 1" /db_xref="GeneID:389161" /db_xref="HGNC:HGNC:29642" ORIGIN 1 mrifiafegs fepfdvsade tvevvklmik dyfhiplsed kqgrrylelm yagaalkdsw 61 sladvgisfc stlkcfvkee dkptlyvfna vtqdtmpvme sislldktvs dlrtlvtlrc 121 glpvsvyclr tprglemydc ntlkdyqtdi gttlrldvwd gwkeflmgcl lgqklkvqry 181 lskegpvlky qkrvalyiaa fcgyieltew alkqgarphe avgvhpyraw chealhadvs 241 kcpihaaaea gqllilkafv nysvlcleck naagqtplti vfkhkhkdcv lyllskmwst 301 vsfpkisvpm riyikikqwi lraqshslhk sqfcgarvfg akvgdtvmvd gftkpkmtsk 361 swhkagnsds qsivlklpsl skqtasskpv nplaisqpdt rkqalkfhpl vnassfselq 421 khqqqnqkki tatarkkekl ikntylpqvp lppvsrvgys hpsffyatps adfllkssfs 481 sflehsgktp wenaiyclav asafkekrwl qqleiarvla kksisnlttr ggltacensl 541 etvl // LOCUS NP_001092096 572 aa linear PRI 05-JUL-2020 DEFINITION zinc finger protein 98 [Homo sapiens]. ACCESSION NP_001092096 XP_047554 VERSION NP_001092096.1 DBSOURCE REFSEQ: accession NM_001098626.2 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 572) AUTHORS Shaffer JR, Feingold E, Wang X, Lee M, Tcuenco K, Weeks DE, Weyant RJ, Crout R, McNeil DW and Marazita ML. TITLE GWAS of dental caries patterns in the permanent dentition JOURNAL J. Dent. Res. 92 (1), 38-44 (2013) PUBMED 23064961 REFERENCE 2 (residues 1 to 572) 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 3 (residues 1 to 572) AUTHORS Chasman DI, Giulianini F, MacFadyen J, Barratt BJ, Nyberg F and Ridker PM. TITLE Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial JOURNAL Circ Cardiovasc Genet 5 (2), 257-264 (2012) PUBMED 22331829 REMARK Erratum:[Circ Cardiovasc Genet. 2012 Jun;5(3):e27] REFERENCE 4 (residues 1 to 572) 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 572) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC011516.3 and AC011494.2. On Jun 15, 2007 this sequence version replaced XP_047554.8. 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 transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR7410570.652870.1, BX955247.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03568912 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000357774.9/ ENSP00000350418.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..572 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p12" Protein 1..572 /product="zinc finger protein 98" /note="zinc finger protein 739; zinc finger protein F7175" /calculated_mol_wt=65668 Region 13..73 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 13..52 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" Region 179..563 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 184..204 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(184,187,200,204) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 196..220 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 212..232 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(212,215,228,232) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 224..249 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 240..260 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(240,243,256,260) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(245,247,249,251..252,255..256,259,273,275,279..280, 283..284,287,301,303,305,307..308,311..312,315) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 252..277 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 268..288 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(268,271,284,288) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 280..305 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 296..316 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(296,299,312,316) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 324..344 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(324,327,340,344) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(329,331,333,335..336,339..340,343,357,359,363..364, 367..368,371,385,387,389,391..392,395..396,399) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 337..361 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 350..372 /region_name="zf-C2H2" /note="Zinc finger, C2H2 type; pfam00096" /db_xref="CDD:278523" Region 352..372 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(352,355,368,372) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 364..389 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 380..400 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(380,383,396,400) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 408..428 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(408,411,424,428) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 420..444 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 436..456 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(436,439,452,456) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 449..473 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 464..484 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(464,467,480,484) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(469,471,473,475..476,479..480,483,497,499,503..504, 507..508,511,525,527,529,531..532,535..536,539) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 477..501 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 492..512 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(492,495,508,512) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 504..529 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 520..540 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(520,523,536,540) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..572 /gene="ZNF98" /gene_synonym="F7175; ZNF739" /coded_by="NM_001098626.2:123..1841" /db_xref="CCDS:CCDS46031.1" /db_xref="GeneID:148198" /db_xref="HGNC:HGNC:13174" /db_xref="MIM:603980" ORIGIN 1 mpgplgslem gvltfrdval efsleewqcl dtaqqnlyrn vmlenyrnlv fvgiaaskpd 61 litcleqgke pwnvkrhemv teppvvysyf aqdlwpkqgk knyfqkvilr tykkcgrenl 121 qlrkycksmd eckvhkecyn glnqcltttq nkifqydkyv kvfhkfsnsn rhkightgkk 181 sfkckeceks fcmlshlaqh krihsgekpy kckecgkayn easnlsthkr ihtgkkpykc 241 eecgkafnrl shltthkiih tgkkpykcee cgkafnqsan ltthkrihtg ekpykceecg 301 rafsqsstlt ahkiihagek pykceecgka fsqsstltth kiihtgekfy kceecgkafs 361 rlshltthkr ihsgekpykc eecgkafkqs stltthkrih agekfykcev cskafsrfsh 421 ltthkrihtg ekpykceecg kafnlssqlt thkiihtgek pykceecgka fnqsstlskh 481 kvihtgekpy kceecgkafn qsshltthkm ihtgekpykc eecgkafnns silnrhkmih 541 tgeklykpes cnnacdniak iskykrncag ek // LOCUS NP_001336655 513 aa linear PRI 05-JUL-2020 DEFINITION zinc finger protein 723 [Homo sapiens]. ACCESSION NP_001336655 VERSION NP_001336655.1 DBSOURCE REFSEQ: accession NM_001349726.2 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 513) AUTHORS Nielsen R, Bustamante C, Clark AG, Glanowski S, Sackton TB, Hubisz MJ, Fledel-Alon A, Tanenbaum DM, Civello D, White TJ, J Sninsky J, Adams MD and Cargill M. TITLE A scan for positively selected genes in the genomes of humans and chimpanzees JOURNAL PLoS Biol. 3 (6), e170 (2005) PUBMED 15869325 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC008626.6 and AC022145.8. 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 :: SRR1803617.14425.1, SRR5189667.392649.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000600766.3/ ENSP00000494306.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..513 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p12" Protein 1..513 /product="zinc finger protein 723" /calculated_mol_wt=59021 Region 4..64 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 156..504 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 175..195 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(175,178,191,195) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 203..223 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(203,206,219,223) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 231..251 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(231,234,247,251) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 259..279 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(259,262,275,279) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 287..307 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(287,290,303,307) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 315..335 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(315,318,331,335) /site_type="other" /note="Zn binding site [ion binding]" /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 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" Region 427..447 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(427,430,443,447) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 455..475 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(455,458,471,475) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 483..503 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(483,486,499,503) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..513 /gene="ZNF723" /gene_synonym="ZNF723P" /coded_by="NM_001349726.2:90..1631" /db_xref="CCDS:CCDS86735.1" /db_xref="GeneID:646864" /db_xref="HGNC:HGNC:32286" ORIGIN 1 mgpltftdva ikfsleewqf ldtaqqnlyr dvmlenyrnl vflgvgvskp dlitcleqgk 61 epwnmkrhkm vakppvvcsh faqdlwpeqg ikdsfqkvil rsygkyghdn lqlrkgcesv 121 deckmhkggy delkqclttt pskifqcdky vkvfhkfsss nsqkirhtgn nsfkckecgk 181 sfcmlshltk hernhtrvnc ykceecgkaf svpsklnnhk rihtgekpyk ceecgkafnv 241 ssslnnhkri htgekpykce ecgktfnmfs slnnhkriht gekpykckec gkafnvfssl 301 nnhkrihtge kpykceecgk afnqpshlat hkrihtgekl ykceecgkaf sqsshitthk 361 rihtgekpyk ceecgkafkv svhltthkri htgekpykce ecgkafnqss altthkiiht 421 gerpykckqc gkgfsqsstl tkhkiihtke kpykceecgk afnqystlnk hkiiharekp 481 ykceecgkaf nkssilnrhk iihtkeksqt lkm // LOCUS NP_001131080 585 aa linear PRI 05-JUL-2020 DEFINITION zinc finger protein 732 [Homo sapiens]. ACCESSION NP_001131080 VERSION NP_001131080.1 DBSOURCE REFSEQ: accession NM_001137608.3 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 585) AUTHORS Imbeault M, Helleboid PY and Trono D. TITLE KRAB zinc-finger proteins contribute to the evolution of gene regulatory networks JOURNAL Nature 543 (7646), 550-554 (2017) PUBMED 28273063 REFERENCE 2 (residues 1 to 585) AUTHORS Wang J, Wang J and Tian CY. TITLE Evolution of KRAB-containing zinc finger proteins and their roles in species evolution JOURNAL Yi Chuan 38 (11), 971-978 (2016) PUBMED 27867147 REMARK Review article REFERENCE 3 (residues 1 to 585) AUTHORS Wang W, Cai J, Lin Y, Liu Z, Ren Q, Hu L, Huang Z, Guo M and Li W. TITLE Zinc fingers function cooperatively with KRAB domain for nuclear localization of KRAB-containing zinc finger proteins JOURNAL PLoS ONE 9 (3), e92155 (2014) PUBMED 24647005 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 585) AUTHORS Razin SV, Borunova VV, Maksimenko OG and Kantidze OL. TITLE Cys2His2 zinc finger protein family: classification, functions, and major members JOURNAL Biochemistry Mosc. 77 (3), 217-226 (2012) PUBMED 22803940 REMARK Review article COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC079140.6, HY033234.1 and AK302099.1. Summary: This gene encodes a kruppel-associated box-containing zinc finger protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and sixteen C-terminal C2H2-type zinc finger domains. The KRAB-ZFPs represent the largest family of mammalian transcriptional repressors, which function through the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to engage histone modifiers and induce heterochromatin formation. [provided by RefSeq, Jul 2017]. ##Evidence-Data-START## Transcript exon combination :: AK302099.1, SRR5189652.158986.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467147 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000419098.6/ ENSP00000415774.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..585 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4p16.3" Protein 1..585 /product="zinc finger protein 732" /note="zinc finger protein LOC654254" /calculated_mol_wt=67709 Region 4..62 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 4..43 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" Region 130..542 /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" Site order(143,146,159,163) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 170..189 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 225..244 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(225,228,241,244) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 253..272 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 280..300 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(280,283,296,300) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 292..317 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 308..328 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(308,311,324,328) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(313,315,317,319..320,323..324,327,341,343,347..348, 351..352,355,369,371,373,375..376,379..380,383) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 321..345 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 336..356 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(336,339,352,356) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 349..373 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 364..384 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(364,367,380,384) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 377..401 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 392..412 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(392,395,408,412) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 405..427 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 420..440 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(420,423,436,440) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 432..455 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 448..468 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(448,451,464,468) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 460..483 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 476..496 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(476,479,492,496) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 488..511 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 504..524 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(504,507,520,524) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 516..541 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 532..552 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(532,535,548,552) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 560..579 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" CDS 1..585 /gene="ZNF732" /coded_by="NM_001137608.3:165..1922" /db_xref="CCDS:CCDS46990.1" /db_xref="GeneID:654254" /db_xref="HGNC:HGNC:37138" ORIGIN 1 melltfrdva iefspeewkc ldpaqqnlyr dvmlenyrnl islgvaisnp dlviyleqrk 61 epykvkihet vakhpavcsh ftqdflpvqg iedsfhklil rryekcghen lelrksckrk 121 vqkggynefn qclstiqski fqcnvhvkvf stfsnsnqrr irhtgekhfk ecgksfqkfs 181 dltqhqgiha gekpytceec gkdfkwylif neyeiihtge kpftceecgn ifttssnfak 241 hkvhtgeksy kyeecgkafn rsstltkhkr ihaeekpftc eecgkiitss snvakhkkih 301 tgeklykcqe cgkvfnrstt ltkhnrihtg ekpytceecg kafsrssvln ehkrihtgek 361 pykceqcgka frqsatlnkh ksihtgekpy tceecgkafs rfttlnehkr ihtgerphkc 421 eecgkafgws tdlnkhkiih tgekpykcee cgkafgwsay lskhkkihtg ekpyrceecg 481 kaflcsraln khktihtgek pyeceecgka fgwstylskh kkihtgekpy rceecgkafr 541 rsrvlnkykt ihtgdktpkc kgcgkafkws sylnqhnkiy tgekl // LOCUS NP_001264236 336 aa linear PRI 05-JUL-2020 DEFINITION melanoma-associated antigen B17 [Homo sapiens]. ACCESSION NP_001264236 XP_001719446 XP_003119241 XP_003960874 VERSION NP_001264236.1 DBSOURCE REFSEQ: accession NM_001277307.2 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 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 2 (residues 1 to 336) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DV080535.1 and AC078993.20. On or before Mar 29, 2013 this sequence version replaced XP_001719446.2, XP_003119241.2, XP_003960874.1. 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 :: DV080535.1, SRR5189667.200807.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000400004.6/ ENSP00000382884.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..336 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xp22.2" Protein 1..336 /product="melanoma-associated antigen B17" /note="melanoma antigen family B, 17 (pseudogene); melanoma antigen family B17" /calculated_mol_wt=37447 Region 5..91 /region_name="MAGE_N" /note="Melanoma associated antigen family N terminal; pfam12440" /db_xref="CDD:289225" Region 116..284 /region_name="MAGE" /note="MAGE family; pfam01454" /db_xref="CDD:279759" CDS 1..336 /gene="MAGEB17" /coded_by="NM_001277307.2:353..1363" /db_xref="CCDS:CCDS59524.1" /db_xref="GeneID:645864" /db_xref="HGNC:HGNC:17418" /db_xref="MIM:300763" ORIGIN 1 mprgqaskrr arekrrqarg edqclggaqa taaekeklps ssspacqspp qsfpnagipq 61 esqrasypss pasavsltss degakgqkge spnsfhgpss sestgrdlln tktgelvqfl 121 lnkyirkepi treamlkvin rkykqhfpei lrrstenvev vfglylkemd psrqsyvlvg 181 kldfpnqgsl sdgggfplsg llmvllstif mhgnrateee mweclnalgm ykgrkhfiyg 241 epqelvtkdl vregyleyqq vpssdpprye flwgprarae tskmkvlefv aklndtvast 301 yksryeealr eeeeqarara vardsarara srsfqp // LOCUS NP_055023 1301 aa linear PRI 05-JUL-2020 DEFINITION dentin sialophosphoprotein preproprotein [Homo sapiens]. ACCESSION NP_055023 VERSION NP_055023.2 DBSOURCE REFSEQ: accession NM_014208.3 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 1301) AUTHORS Lee JW, Hong J, Seymen F, Kim YJ, Kang J, Koruyucu M, Tuloglu N, Bayrak S, Song JS, Shin TJ, Hyun HK, Kim YJ, Lee JC, Park JC, Hu J, Simmer J and Kim JW. TITLE Novel frameshift mutations in DSPP cause dentin dysplasia type II JOURNAL Oral Dis 25 (8), 2044-2046 (2019) PUBMED 31454439 REMARK GeneRIF: Novel frameshift mutations in DSPP cause dentin dysplasia type II REFERENCE 2 (residues 1 to 1301) AUTHORS Aseervatham J, Geetu S, Anunobi CC, Koli K and Ogbureke KUE. TITLE Survey of dentin sialophosphoprotein and its cognate matrix metalloproteinase-20 in human cancers JOURNAL Cancer Med 8 (5), 2167-2178 (2019) PUBMED 30932369 REMARK GeneRIF: Significantly high expression levels of MMP20 and DSPP were observed in the malignant breast, colon, prostate, thyroid, and cervical neoplasms compared with their benign and normal counterparts. Furthermore, MMP20 levels increased with advanced stages of colon and thyroid cancers. DSPP expression increased significantly with tumor stage in all cancers examined. REFERENCE 3 (residues 1 to 1301) AUTHORS Fan S, Gao H, Sun L, Zhu F, Zhou R, Zhang W, Yan Y and Gao Y. TITLE Knockdown of DSPP inhibits the migration and invasion of glioma cells JOURNAL Pathol. Res. Pract. 214 (12), 2025-2030 (2018) PUBMED 30309696 REMARK GeneRIF: Taken together, these findings indicate that knockdown of DSPP inhibits glioma cells migration and invasion, suggesting that targeting DSPP might be a potentially effective therapeutic strategy for treating glioma. REFERENCE 4 (residues 1 to 1301) AUTHORS Hu A, Li X, Chen D, Lu T, Huang J, Xu X, Chen D and Xiong F. TITLE [Analysis of DSPP gene mutation in a Chinese pedigree affected with hereditary dentinogenesis imperfecta] JOURNAL Zhonghua Yi Xue Yi Chuan Xue Za Zhi 35 (4), 511-514 (2018) PUBMED 30098245 REMARK GeneRIF: A heterozygous c.50C to T (p.P17L) mutation was identified in exon 2 of the DSPP gene in hereditary dentinogenesis imperfecta REFERENCE 5 (residues 1 to 1301) AUTHORS Suzuki S, Haruyama N, Nishimura F and Kulkarni AB. TITLE Dentin sialophosphoprotein and dentin matrix protein-1: Two highly phosphorylated proteins in mineralized tissues JOURNAL Arch. Oral Biol. 57 (9), 1165-1175 (2012) PUBMED 22534175 REMARK Review article REFERENCE 6 (residues 1 to 1301) AUTHORS Gu K, Chang S, Ritchie HH, Clarkson BH and Rutherford RB. TITLE Molecular cloning of a human dentin sialophosphoprotein gene JOURNAL Eur. J. Oral Sci. 108 (1), 35-42 (2000) PUBMED 10706475 REFERENCE 7 (residues 1 to 1301) AUTHORS Dean JA, Hartsfield JK Jr, Wright JT and Hart TC. TITLE Dentin dysplasia, type II linkage to chromosome 4q JOURNAL J. Craniofac. Genet. Dev. Biol. 17 (4), 172-177 (1997) PUBMED 9493074 REFERENCE 8 (residues 1 to 1301) AUTHORS MacDougall M, Simmons D, Luan X, Nydegger J, Feng J and Gu TT. TITLE Dentin phosphoprotein and dentin sialoprotein are cleavage products expressed from a single transcript coded by a gene on human chromosome 4. Dentin phosphoprotein DNA sequence determination JOURNAL J. Biol. Chem. 272 (2), 835-842 (1997) PUBMED 8995371 REFERENCE 9 (residues 1 to 1301) AUTHORS MacDougall M, Simmons D, Luan X, Gu TT and DuPont BR. TITLE Assignment of dentin sialophosphoprotein (DSPP) to the critical DGI2 locus on human chromosome 4 band q21.3 by in situ hybridization JOURNAL Cytogenet. Cell Genet. 79 (1-2), 121-122 (1997) PUBMED 9533027 REFERENCE 10 (residues 1 to 1301) AUTHORS Shearer,A.E., Hildebrand,M.S. and Smith,R.J.H. TITLE Hereditary Hearing Loss and Deafness Overview JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K 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 AF163151.2 and AC093895.3. This sequence is a reference standard in the RefSeqGene project. On Mar 1, 2006 this sequence version replaced NP_055023.1. Summary: This gene encodes a member of the small integrin-binding ligand N-linked glycoprotein (SIBLING) family of proteins. The encoded preproprotein is secreted by odontoblasts and proteolytically processed to generate two principal proteins of the dentin extracellular matrix of the tooth, dentin sialoprotein and dentin phosphoprotein. These two protein products may play distinct but related roles in dentin mineralization. Mutations in this gene are associated with dentinogenesis imperfecta and dentin dysplasia. This gene is present in a gene cluster on chromosome 4. Allelic differences due to repeat polymorphisms have been found for this gene. [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. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000651931.1/ ENSP00000498766.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1301 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q22.1" Protein 1..1301 /product="dentin sialophosphoprotein preproprotein" /note="dentin phosphophoryn; dentin phosphoprotein; dentin sialoprotein; dentin phosphoryn; deafness, autosomal dominant 39" /calculated_mol_wt=129353 sig_peptide 1..15 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1816 mat_peptide 16..1301 /product="Dentin sialophosphoprotein. /id=PRO_0000021120" /note="propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" /calculated_mol_wt=129353 mat_peptide 16..462 /product="Dentin sialoprotein. /id=PRO_0000021121" /note="propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" /calculated_mol_wt=47427 Site 41 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" Site 49 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" Site 81 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" Site 130 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" Site 150 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" Site 190 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" Site 191 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" Site 209 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" Region <217..343 /region_name="PHA02664" /note="hypothetical protein; Provisional" /db_xref="CDD:177447" Site 222 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" Site 259 /site_type="phosphorylation" /note="Phosphoserine, by CK1. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" Site 275 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" Site 301 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q62598; propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" Site 336 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" Site 387 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" mat_peptide 463..1301 /product="Dentin phosphoprotein. /id=PRO_0000021122" /note="propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" /calculated_mol_wt=81945 Region 488..490 /region_name="Cell attachment site. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (Q9NZW4.2)" CDS 1..1301 /gene="DSPP" /gene_synonym="DFNA39; DGI1; DMP3; DPP; DSP" /coded_by="NM_014208.3:121..4026" /db_xref="CCDS:CCDS43248.1" /db_xref="GeneID:1834" /db_xref="HGNC:HGNC:3054" /db_xref="MIM:125485" ORIGIN 1 mkiityfciw avawaipvpq skplerhvek smnlhllars nvsvqdelna sgtikesgvl 61 vhegdrgrqe ntqdghkgeg ngskwaevgg ksfstystla neegniegwn gdtgkaetyg 121 hdgihgkeen itangiqgqv siidnagatn rsntngntdk ntqngdvgda ghnedvavvq 181 edgpqvagsn nstdnedeii enscrnegnt seitpqinsk rngtkeaevt pgtgedagld 241 nsdgspsgng adededegsg ddedeeagng kdssnnskgq egqdhgkedd hdssigqnsd 301 skeyydpegk edphnevdgd ktskseensa gipedngsqr iedtqklnhr eskrvenrit 361 kesethavgk sqdkgieikg pssgnrnitk evgkgnegke dkgqhgmilg kgnvktqgev 421 vniegpgqks epgnkvghsn tgsdsnsdgy dsydfddksm qgddpnssde sngnddanse 481 sdnnsssrgd asynsdeskd ngngsdskga edddsdstsd tnnsdsngng nngnddndks 541 dsgkgksdss dsdssdssns sdssdssdsd ssdsnsssds dssdsdssds sdsdssdssn 601 ssdssdssds sdssdssdss dsksdsskse sdssdsdsks dssdsnssds sdnsdssdss 661 nssnssdssd ssdssdssss sdssnssdss dssdssnsse ssdssdssds dssdssdssn 721 snssdsdssn ssdssdssns sdssdssdss nssdssdssd ssnssdssds sdssdssdss 781 nssdsndssn ssdssdssns sdssnssdss dssdssdsds snssdssnss dssdssnssd 841 ssdssdssdg sdsdssnrsd ssnssdssds sdssnssdss dssdsnessn ssdssdssns 901 sdsdssdssn ssdssdssns sdssessnss dnsnssdssn ssdssdssds snssdssnss 961 dssnssdssd snssdssdss nssdssdssd ssdssdssds snssdssdss dssdssnssd 1021 ssnssdssns sdssdssdss dssdssdssd ssdssnssds sdssdssdss dssdssdssd 1081 ssessdssds snssdssdss dssdssdssd ssdssdssds snssdssdss dssdssdssn 1141 ssdssdsses sdssdssdss dssdssdssd ssdssdssns sdssdssdss dssdssdssd 1201 ssdssdssds sdssdssdss dssdssdssd snessdssds sdssdssnss dssdssdssd 1261 stsdsndesd sqsksgngnn ngsdsdsdse gsdsnhstsd d // LOCUS NP_001132916 181 aa linear PRI 05-JUL-2020 DEFINITION trafficking protein particle complex subunit 3-like protein [Homo sapiens]. ACCESSION NP_001132916 XP_001723311 VERSION NP_001132916.1 DBSOURCE REFSEQ: accession NM_001139444.3 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 181) 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 2 (residues 1 to 181) 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 AL121953.21, BX280366.1, DY655209.1, AI745276.1, BE501784.1, AI090359.1 and AL445224.8. On Nov 14, 2008 this sequence version replaced XP_001723311.1. ##Evidence-Data-START## Transcript exon combination :: SRR5189658.135607.1, SRR5189658.54254.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000368602.4/ ENSP00000357591.3 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="6" /map="6q22.1" Protein 1..181 /product="trafficking protein particle complex subunit 3-like protein" /note="TRAPPC3-like protein; BET3-like protein" /calculated_mol_wt=20435 Region 15..170 /region_name="TRAPPC3_bet3" /note="Bet3-TRAPPC3 subunit of the TRAPP complex; cd14942" /db_xref="CDD:271345" Site order(15..19,21..23,25..26,29,43,47,50..51,54..55,58, 85..86,88,109,131) /site_type="other" /note="TRS31 interface [polypeptide binding]" /db_xref="CDD:271345" Site order(19,55..56,59,65..69,73..74,77..78,82..83,86..87, 131..132,135..136,139..140,145) /site_type="other" /note="ligand binding site [chemical binding]" /db_xref="CDD:271345" Site order(53..54,57..58,60..63,65,67,142) /site_type="other" /note="TRS23 interface [polypeptide binding]" /db_xref="CDD:271345" Site 68 /site_type="other" /note="acylation site [posttranslational modification]" /db_xref="CDD:271345" CDS 1..181 /gene="TRAPPC3L" /gene_synonym="bA259P20.2; BET3L" /coded_by="NM_001139444.3:171..716" /db_xref="CCDS:CCDS47468.1" /db_xref="GeneID:100128327" /db_xref="HGNC:HGNC:21090" /db_xref="MIM:614137" ORIGIN 1 msrpahrrpe yhkinkdlfv ltygalvaql ckdyekdedv nqyldkmgyg igtrlvedfl 61 arscvgrchs yseiidiiaq vafkmylgit psvtcnnssk nefslilekn plvefveelp 121 agrsslcycn llcgiirgal emvhlaadvt flqdrlkgds vteigitflk krdekkyrgk 181 k // LOCUS NP_079003 552 aa linear PRI 05-JUL-2020 DEFINITION leucine-rich repeat-containing protein 31 isoform 1 [Homo sapiens]. ACCESSION NP_079003 XP_001133921 XP_001133922 XP_001133923 VERSION NP_079003.2 DBSOURCE REFSEQ: accession NM_024727.4 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 552) AUTHORS D'Mello RJ, Caldwell JM, Azouz NP, Wen T, Sherrill JD, Hogan SP and Rothenberg ME. TITLE LRRC31 is induced by IL-13 and regulates kallikrein expression and barrier function in the esophageal epithelium JOURNAL Mucosal Immunol 9 (3), 744-756 (2016) PUBMED 26462420 REMARK GeneRIF: this report shows that leucine-rich repeat-containing protein 31 (LRRC31) regulates esophageal epithelial barrier function REFERENCE 2 (residues 1 to 552) AUTHORS Walsh KM, Codd V, Smirnov IV, Rice T, Decker PA, Hansen HM, Kollmeyer T, Kosel ML, Molinaro AM, McCoy LS, Bracci PM, Cabriga BS, Pekmezci M, Zheng S, Wiemels JL, Pico AR, Tihan T, Berger MS, Chang SM, Prados MD, Lachance DH, O'Neill BP, Sicotte H, Eckel-Passow JE, van der Harst P, Wiencke JK, Samani NJ, Jenkins RB and Wrensch MR. CONSRTM ENGAGE Consortium Telomere Group TITLE Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk JOURNAL Nat. Genet. 46 (7), 731-735 (2014) PUBMED 24908248 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA425899.1, BC117401.1, AK026912.1 and AC078795.19. On or before Sep 20, 2006 this sequence version replaced XP_001133921.1, XP_001133922.1, XP_001133923.1, NP_079003.1. Transcript Variant: This variant (1) encodes the longest isoform (1). ##Evidence-Data-START## Transcript exon combination :: GQ891402.1, EU668335.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000316428.10/ ENSP00000325978.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..552 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q26.2" Protein 1..552 /product="leucine-rich repeat-containing protein 31 isoform 1" /note="leucine-rich repeat-containing protein 31; epididymis secretory protein Li 293; epididymis secretory sperm binding protein" /calculated_mol_wt=61358 Region 91..349 /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...; cl26161" /db_xref="CDD:330982" Region 91..115 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site order(94..95,151,207,235,316,318,344) /site_type="other" /note="Substrate binding site [chemical binding]" /db_xref="CDD:238064" Region 116..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 172..227 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 227..246 /region_name="LRR 1" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" Region 228..255 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 233..>498 /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...; cl26161" /db_xref="CDD:330982" Region 255..275 /region_name="LRR 2" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" Region 256..283 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 283..293 /region_name="LRR 3" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" Region 284..311 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 311..331 /region_name="LRR 4" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" Region 312..339 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 339..360 /region_name="LRR 5" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" Region 340..367 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 367..387 /region_name="LRR 6" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" Region 368..395 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 395..415 /region_name="LRR 7" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" Region 423..443 /region_name="LRR 8" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" Region 424..453 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 453..475 /region_name="LRR 9" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" CDS 1..552 /gene="LRRC31" /gene_synonym="HEL-S-293" /coded_by="NM_024727.4:129..1787" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS43167.1" /db_xref="GeneID:79782" /db_xref="HGNC:HGNC:26261" ORIGIN 1 msqtrkktss egetkpqtst vnkflrgsna esrkedndlk tsdsqpsdwi qktatsetak 61 plssemewrs smeknehflq klgkkavnkc ldlnncgltt admkemvall pflpdleeld 121 iswngfvggt llsitqqmhl vsklkilrlg scrlttddvq algeafemip eleelnlswn 181 skvggnlpli lqkfqkgski qmielvdcsl tsedgtflgq llpmlqslev ldlsinrdiv 241 gslnsiaqgl kstsnlkvlk lhscglsqks vkildaafry lgelrkldls cnkdlgggfe 301 dspaqlvmlk hlqvldlhqc sltaddvmsl tqvipllsnl qeldlsankk mgsssenlls 361 rlrflpalks lvinncales etftalaeas vhlsalevfn lswnkcvggn lkllletlkl 421 smslqvlrls scslvtedva llasviqtgh laklqkldls yndsicdagw tmfcqnvrfl 481 kelieldisl rpsnfrdcgq wfrhllyavt klpqiteigm krwilpasqe eelecfdqdk 541 krsihfdhgg fq // LOCUS NP_001005356 508 aa linear PRI 05-JUL-2020 DEFINITION POTE ankyrin domain family member G [Homo sapiens]. ACCESSION NP_001005356 XP_001133775 VERSION NP_001005356.1 DBSOURCE REFSEQ: accession NM_001005356.3 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 508) AUTHORS Chang KW, Yang PY, Lai HY, Yeh TS, Chen TC and Yeh CT. TITLE Identification of a novel actin isoform in hepatocellular carcinoma JOURNAL Hepatol. Res. 36 (1), 33-39 (2006) PUBMED 16824795 REFERENCE 2 (residues 1 to 508) AUTHORS Bera TK, Huynh N, Maeda H, Sathyanarayana BK, Lee B and Pastan I. TITLE Five POTE paralogs and their splice variants are expressed in human prostate and encode proteins of different lengths JOURNAL Gene 337, 45-53 (2004) PUBMED 15276201 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AY462874.1, AL512624.5, BC127623.1, AY465171.1 and CV341500.1. On Sep 20, 2006 this sequence version replaced XP_001133775.1. Transcript Variant: This variant (1) represents the shorter transcript and encodes the functional protein. ##Evidence-Data-START## Transcript exon combination :: AY462874.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2142586 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000547848.5/ ENSP00000450853.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..508 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="14" /map="14q11.2" Protein 1..508 /product="POTE ankyrin domain family member G" /note="protein expressed in prostate, ovary, testis, and placenta 14; cancer/testis antigen family 104, member 4; ANKRD26-like family C member 2; prostate, ovary, testis-expressed protein on chromosome 14" /calculated_mol_wt=56966 Region 143..193 /region_name="Ank_4" /note="Ankyrin repeats (many copies); pfam13637" /db_xref="CDD:290365" Region 167..292 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 172..201 /region_name="ANK 1" /note="propagated from UniProtKB/Swiss-Prot (Q6S5H5.5)" Region 174..203 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 177..269 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 205..236 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 205..234 /region_name="ANK 2" /note="propagated from UniProtKB/Swiss-Prot (Q6S5H5.5)" Region 233..357 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Site order(238,240,244..245,248..250,252..253,257,260,269,271, 273,277..278,281..283,285..286,290,293,302,304,306, 310..311,314..316,318..319,323,326,335) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 238..269 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 238..267 /region_name="ANK 3" /note="propagated from UniProtKB/Swiss-Prot (Q6S5H5.5)" Region 243..335 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 271..302 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 271..300 /region_name="ANK 4" /note="propagated from UniProtKB/Swiss-Prot (Q6S5H5.5)" Region 304..335 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 304..333 /region_name="ANK 5" /note="propagated from UniProtKB/Swiss-Prot (Q6S5H5.5)" CDS 1..508 /gene="POTEG" /gene_synonym="A26C2; ACTBL1; CT104.4; POTE-14; POTE14; POTE14alpha; POTE22" /coded_by="NM_001005356.3:53..1579" /db_xref="CCDS:CCDS73610.1" /db_xref="GeneID:404785" /db_xref="HGNC:HGNC:33896" /db_xref="MIM:608916" ORIGIN 1 mvaeagsmpa assvkkpfgl rskmgkwcrh cfpwcrgsgk snvgtsgdhd dsamktlrsk 61 mgkwcrhcfp wcrgssksnv gtsgdhddsa mktlrskmgk wcchcfpccr gsgkskvgpw 121 gdyddsafme pryhvrredl dklhraawwg kvprkdlivm lkdtdmnkkd kqkrtalhla 181 sangnsevvk llldrrcqln ildnkkrtal tkavqcrede calmllehgt dpnipdeygn 241 talhyaiyne dklmakalll ygadiesknk hgltplllgv heqkqqvvkf likkkanlna 301 ldrygrtali lavccgsasi vsllleqnid vssqdlsgqt areyavsshh nvicqllsdy 361 kekqmlkvss ensnpeqdlk ltseeesqrl kgsensqpee msqepeinkg gdrkveeemk 421 khgsthmgfp enlpngatad ngddglippr ksrtpesqqf pdteneqyhs deqndtqkql 481 seeqntgilq deiliheekq ievaenef // LOCUS NP_001264326 287 aa linear PRI 05-JUL-2020 DEFINITION ret finger protein-like 4A-like protein 1 [Homo sapiens]. ACCESSION NP_001264326 XP_003403526 XP_011525561 VERSION NP_001264326.1 DBSOURCE REFSEQ: accession NM_001277397.2 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 287) 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 AC008749.6. On or before May 8, 2019 this sequence version replaced XP_011525561.1, XP_003403526.1. 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 and it is therefore inferred. The full-length exon combination is inferred from the paralogous transcript CA454993.1. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.132825.1, SRR5189655.118226.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2146236 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000341750.5/ ENSP00000345151.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..287 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.42" Protein 1..287 /product="ret finger protein-like 4A-like protein 1" /calculated_mol_wt=32118 Region 11..52 /region_name="zf-C3HC4_4" /note="zinc finger of C3HC4-type, RING; pfam15227" /db_xref="CDD:291880" Region 54..95 /region_name="RDM" /note="RFPL defining motif (RDM); pfam11002" /db_xref="CDD:287916" Region 93..270 /region_name="SPRY_PRY_RFPL" /note="Ret finger protein-like (RFPL), includes RFP1, 2, 3, 4; cd15821" /db_xref="CDD:293993" CDS 1..287 /gene="RFPL4AL1" /gene_synonym="RNF210B" /coded_by="NM_001277397.2:68..931" /db_xref="CCDS:CCDS59425.1" /db_xref="GeneID:729974" /db_xref="HGNC:HGNC:45147" ORIGIN 1 maehfkqiir cpvclkdlee avqlkcgyac clqclnslqk epdgegllcr fcsvvsqkdd 61 ikpkyklral vsiikelepk lksvltmnpr mrkfqvdmtf dvdtannyli isedlrsfrs 121 gdlsqnrkeq aerfdtalcv lgtprftsgr hywevdvgts qvwdvgvcke svnrqgkiel 181 ssehgfltvg cregkvfaas tvpmtplwvs pqlhrvgifl dvgmrsiafy nvsdgchint 241 fieipvcepw rpffahkrgs qddqsilsic svinpstasa pvssegk // LOCUS NP_001229609 1252 aa linear PRI 05-JUL-2020 DEFINITION zinc finger protein 729 [Homo sapiens]. ACCESSION NP_001229609 XP_002343677 XP_002347956 XP_003119774 VERSION NP_001229609.1 DBSOURCE REFSEQ: accession NM_001242680.2 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 1252) AUTHORS Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S and Schupp I. TITLE The full-ORF clone resource of the German cDNA Consortium JOURNAL BMC Genomics 8, 399 (2007) PUBMED 17974005 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 1252) 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 AC073539.3, BX956721.1 and AC011494.2. On or before Jun 22, 2011 this sequence version replaced XP_002343677.2, XP_003119774.1, XP_002347956.2. 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 :: HY026599.1, BX956721.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000601693.2/ ENSP00000469582.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1252 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p12" Protein 1..1252 /product="zinc finger protein 729" /calculated_mol_wt=144892 Region 13..73 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 13..52 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" Region 182..202 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(182,185,198,202) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 210..230 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(210,213,226,230) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 239..258 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 262..666 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 266..286 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(266,269,282,286) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(271,273,275,277..278,281..282,285,299,301,305..306, 309..310,313,327,329,331,333..334,337..338,341) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" 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" Region 322..342 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(322,325,338,342) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 351..370 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 363..386 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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" Region 434..454 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(434,437,450,454) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 462..482 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(462,465,478,482) /site_type="other" /note="Zn binding site [ion binding]" /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..534,537) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 474..499 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 490..510 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(490,493,506,510) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 502..527 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 518..538 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(518,521,534,538) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 531..554 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 546..566 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(546,549,562,566) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 574..594 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(574,577,590,594) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 602..622 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(602,605,618,622) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(607,609,611,613..614,617..618,621,635,637,641..642, 645..646,649,663,665,667,669..670,673..674,677) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 625..1123 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 630..650 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(630,633,646,650) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 642..667 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 658..678 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(658,661,674,678) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 670..695 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 686..706 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(686,689,702,706) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 698..722 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 714..734 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(714,717,730,734) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 742..762 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(742,745,758,762) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 770..790 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(770,773,786,790) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 798..818 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(798,801,814,818) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 826..846 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(826,829,842,846) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(831,833,835,837..838,841..842,845,859,861,865..866, 869..870,873,887,889,891,893..894,897..898,901) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 854..874 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(854,857,870,874) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 866..890 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 882..902 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(882,885,898,902) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 910..930 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(910,913,926,930) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 938..958 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(938,941,954,958) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(943,945,947,949..950,953..954,957,971,973,977..978, 981..982,985,999,1001,1003,1005..1006,1009..1010,1013) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 966..986 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(966,969,982,986) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 978..1003 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 994..1014 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(994,997,1010,1014) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 1022..1042 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1022,1025,1038,1042) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 1034..1058 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 1050..1070 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1050,1053,1066,1070) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 1078..1098 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1078,1081,1094,1098) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 1106..1126 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1106,1109,1122,1126) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(1111,1113,1115,1117..1118,1121..1122,1125,1139,1141, 1145..1146,1149..1150,1153,1167,1169,1171,1173..1174, 1177..1178,1181) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 1134..1154 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1134,1137,1150,1154) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 1162..1182 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1162,1165,1178,1182) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 1190..1210 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(1190,1193,1206,1210) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..1252 /gene="ZNF729" /coded_by="NM_001242680.2:86..3844" /db_xref="CCDS:CCDS59368.1" /db_xref="GeneID:100287226" /db_xref="HGNC:HGNC:32464" ORIGIN 1 mpgapgslem gpltfrdvti efsleewqcl dtvqqnlyrd vmlenyrnlv flgmavfkpd 61 litclkqgke pwnmkrhemv tkppvmrshf tqdlwpdqst kdsfqevilr tyarcghknl 121 rlrkdcksan egkmhkegyn klnqcrtatq rkifqcnkhm kvfhkysnrn kvrhtkkktf 181 kcikcsksff mlsclirhkr ihirqniykc eergkafksf stltkhkiih tedkpykykk 241 cgnafkfsst ftkhkrihtg etpfrceecg kafnqssnlt dhkrihtgek tykceecgka 301 fkgssnfnah kvihtaekpy kcedcgktfn hfsalrkhki ihtgkkpykr eecgkafsqs 361 stlrkheiih tgekpykcee cgkafkwssk ltvhkvvhtg ekpykceecg kafsqfstlk 421 khkiihtgkk pykceecgka fnssstlmkh kiihtgekpy kceecgkafr qsshltrhka 481 ihtgekpykc eecgkafnhf sdlrrhkiih tgkkpykcee cgkafsqsst lrnhqiihtg 541 ekpykceecg kafkwssklt vhkvihtgek pckceecgka fkhfsalrkh kvihtrekly 601 kceecgkafn nssilakhki ihtgkkpykc eecgkafrqs shltrhkaih tgekpykcee 661 cgkafshfsa lrrhkiihtg kkpykceecg kafshfsalr rhkiihtgek pykceecgka 721 fkwsskltvh kvihtaekpc kceecgksfk hfsalrkhkv ihtreklykc eecvkafnsf 781 salmkhkvih tgekpykcee cgkafkwssk ltvhkvihtg ekpckceecg kafkhfsalr 841 khkvihtgkk pykceecgka fsqssslrkh eiihsgekpy kceecgkafk wlskltvhkv 901 ihtaekpckc eecgkafkhf salrkhkiih tgkkpykcee cgkafndsst lmkhkiihtg 961 kkpykcaecg kafkqsshlt rhkaihtgek pykceecgkd fnnsstlkkh klihtrekly 1021 kceecvkafn nfsalmkhki ihtgekpykc eecgkafkws skltehkvih tgekpckcee 1081 cdkafkhfsa lrkhkvihtg kkpyqcdecg kafnnsstlt khkiihtgek pykceecgka 1141 fsqssiltkh kiihsvekpy kceecgkafn qsshltrhkt ihtgekpykc eecgkafiqc 1201 sylirhktih trekptnvkk vpkllsnpht lldktihtge kpykceecak af // LOCUS NP_945349 295 aa linear PRI 05-JUL-2020 DEFINITION aquaporin-12A precursor [Homo sapiens]. ACCESSION NP_945349 XP_351527 VERSION NP_945349.1 DBSOURCE REFSEQ: accession NM_198998.3 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 Calvanese L, Pellegrini-Calace M and Oliva R. TITLE In silico study of human aquaporin AQP11 and AQP12 channels JOURNAL Protein Sci. 22 (4), 455-466 (2013) PUBMED 23359558 REMARK GeneRIF: Built accurate 3D-models for AQP11 and AQP12 and comprehensively compared their sequence and structure to other known aquaporins. REFERENCE 2 (residues 1 to 295) AUTHORS Itoh T, Rai T, Kuwahara M, Ko SB, Uchida S, Sasaki S and Ishibashi K. TITLE Identification of a novel aquaporin, AQP12, expressed in pancreatic acinar cells JOURNAL Biochem. Biophys. Res. Commun. 330 (3), 832-838 (2005) PUBMED 15809071 REMARK GeneRIF: a role of AQP12 in digestive enzyme secretion such as maturation and exocytosis of secretory granules COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC011298.7 and AB040748.1. On Jan 24, 2004 this sequence version replaced XP_351527.1. ##Evidence-Data-START## Transcript exon combination :: AB040748.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000337801.9/ ENSP00000337144.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..295 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q37.3" Protein 1..295 /product="aquaporin-12A precursor" /note="aquaporin X2; aquaporin 12" /calculated_mol_wt=29353 Site 1..21 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8IXF9.1)" sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2140 Site 55..75 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8IXF9.1)" Region <77..239 /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:294134" Site order(79..81,196..197,200,203) /site_type="other" /note="amphipathic channel" /db_xref="CDD:238204" Site order(81..83,200..202) /site_type="other" /note="Asn-Pro-Ala signature motifs" /db_xref="CDD:238204" Region 81..83 /region_name="NPA 1" /note="propagated from UniProtKB/Swiss-Prot (Q8IXF9.1)" Site 100..126 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8IXF9.1)" Site 146..166 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8IXF9.1)" Site 179..199 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8IXF9.1)" Region 200..202 /region_name="NPA 2" /note="propagated from UniProtKB/Swiss-Prot (Q8IXF9.1)" Site 216..236 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8IXF9.1)" CDS 1..295 /gene="AQP12A" /gene_synonym="AQP-12; AQP12; AQPX2" /coded_by="NM_198998.3:49..936" /db_xref="GeneID:375318" /db_xref="HGNC:HGNC:19941" /db_xref="MIM:609789" ORIGIN 1 maglnvslsf ffatfalcea arraskallp vgayevfare amrtlvelgp wagdfgpdll 61 ltllfllfla hgvtldgasa nptvslqefl maeqslpgtl lklaaqglgm qaactlmrlc 121 wawelsdlhl lqslmaqscs salrtsvphg alveaacafc fhltllhlrh sppaysgpav 181 allvtvtayt agpftsaffn palaasvtfa csghtlleyv qvywlgpltg mvlavllhqg 241 rlphlfqrnl fygqknkyra prgkpapasg dtqtpakgss vrepgrsgve gphss // LOCUS NP_853636 110 aa linear PRI 05-JUL-2020 DEFINITION keratin-associated protein 6-3 [Homo sapiens]. ACCESSION NP_853636 VERSION NP_853636.3 DBSOURCE REFSEQ: accession NM_181605.4 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 110) 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. This record has been curated by NCBI staff in collaboration with Michael Rogers. The reference sequence was derived from AP001069.1. On Jul 26, 2007 this sequence version replaced NP_853636.2. 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 is intronless :: AB096951.1, BC118624.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000391624.1/ ENSP00000375482.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..110 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21q22.11" Protein 1..110 /product="keratin-associated protein 6-3" /calculated_mol_wt=11015 CDS 1..110 /gene="KRTAP6-3" /gene_synonym="KAP6.3" /coded_by="NM_181605.4:7..339" /db_xref="CCDS:CCDS77622.1" /db_xref="GeneID:337968" /db_xref="HGNC:HGNC:18933" ORIGIN 1 mtsttntmcg syyrnynggh gygccgyggl gcgyggcgyg ccgygglgfg yggldcgygg 61 lgcgygsfcg cgyrgldcgy gcgygyvshs fcgcgyrcgs gygssfgyyy // LOCUS NP_001013668 171 aa linear PRI 05-JUL-2020 DEFINITION protein FAM209B precursor [Homo sapiens]. ACCESSION NP_001013668 NP_543014 XP_371402 VERSION NP_001013668.2 DBSOURCE REFSEQ: accession NM_001013646.4 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 171) 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 2 (residues 1 to 171) 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 3 (residues 1 to 171) 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 171) 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 5 (residues 1 to 171) 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 AL109806.22, DB452055.1 and DB517586.1. On or before Dec 2, 2006 this sequence version replaced NP_543014.1, NP_001013668.1. 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 :: BI559921.1, SRR5189667.312356.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000371325.1/ ENSP00000360376.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..171 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20q13.31" Protein 1..171 /product="protein FAM209B precursor" /note="uncharacterized protein C20orf107; protein FAM209B" /calculated_mol_wt=17371 sig_peptide 1..19 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2146 mat_peptide 20..171 /product="Protein FAM209B. /id=PRO_0000236040" /note="propagated from UniProtKB/Swiss-Prot (Q5JX69.1)" /calculated_mol_wt=17371 Region 20..168 /region_name="FAM209" /note="FAM209 family; pfam15206" /db_xref="CDD:291860" Site 53..73 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q5JX69.1)" CDS 1..171 /gene="FAM209B" /gene_synonym="C20orf107; dJ1153D9.4" /coded_by="NM_001013646.4:97..612" /db_xref="CCDS:CCDS33494.1" /db_xref="GeneID:388799" /db_xref="HGNC:HGNC:16101" ORIGIN 1 mwtlksslvl llcltcsyaf mfsslrqkts epqgkvpcge hfrirqnlpe htqgwlgskw 61 lwllfavvpf vilqcqrdse knkeqsppgl rgfpfrtplk knqnaslykd cvfntlnele 121 vellkfvsev qnlkgamatg sgsnlklrrs empadpyhvt ickiwgeess s // LOCUS NP_001302434 398 aa linear PRI 05-JUL-2020 DEFINITION protein ANKUB1 isoform 2 [Homo sapiens]. ACCESSION NP_001302434 XP_011511102 VERSION NP_001302434.1 DBSOURCE REFSEQ: accession NM_001315505.2 KEYWORDS RefSeq. SOURCE Homo 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 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 BC171805.1 and AC069216.13. On Oct 8, 2015 this sequence version replaced XP_011511102.1. Transcript Variant: This variant (2) uses alternate splice sites in the 5' UTR and coding region which results in the 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. Sequence Note: This RefSeq record was created from transcript and genomic sequence 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 :: BC171805.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144333, SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..398 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q25.1" Protein 1..398 /product="protein ANKUB1 isoform 2" /note="protein ANKUB1" /calculated_mol_wt=44620 Region 49..>150 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 49..83 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 97..148 /region_name="Ank_4" /note="Ankyrin repeats (many copies); pfam13637" /db_xref="CDD:290365" Region 97..125 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" CDS 1..398 /gene="ANKUB1" /gene_synonym="C3orf16" /coded_by="NM_001315505.2:517..1713" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:389161" /db_xref="HGNC:HGNC:29642" ORIGIN 1 mwpprttlrl dvwdgwkefl mgcllgqklk vqrylskegp vlkyqkrval yiaafcgyie 61 ltewalkqga rpheavgvhp yrawchealh advskcpiha aaeagqllil kafvnysvlc 121 lecknaagqt pltivfkhkh kdcvlyllsk mwstvsfpki svpmriyiki kqwilraqsh 181 slhksqfcga rvfgakvgdt vmvdgftkpk mtskswhkag nsdsqsivlk lpslskqtas 241 skpvnplais qpdtrkqalk fhplvnassf selqkhqqqn qkkitatark keklikntyl 301 pqvplppvsr vgyshpsffy atpsadfllk ssfssflehs gktpwenaiy clavasafke 361 krwlqqleia rvlakksisn lttrggltac ensletvl // LOCUS NP_001091846 478 aa linear PRI 05-JUL-2020 DEFINITION PRAME family member 9/15 [Homo sapiens]. ACCESSION NP_001091846 XP_291625 VERSION NP_001091846.1 DBSOURCE REFSEQ: accession NM_001098376.3 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 478) 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 REFERENCE 2 (residues 1 to 478) 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 478) 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 AC243961.3. On May 28, 2007 this sequence version replaced XP_291625.3. 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 transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AK124292.1, BC101343.2 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000376152.2/ ENSP00000365322.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..478 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.21" Protein 1..478 /product="PRAME family member 9/15" /calculated_mol_wt=55289 Region 99..126 /region_name="LRR 1, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM5.1)" Region 181..205 /region_name="LRR 2, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM5.1)" Region 206..232 /region_name="LRR 3, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM5.1)" Region 233..268 /region_name="LRR 4, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM5.1)" Region 269..294 /region_name="LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM5.1)" Region 295..326 /region_name="LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM5.1)" Region 327..347 /region_name="LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM5.1)" Region 351..378 /region_name="LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM5.1)" Region 379..403 /region_name="LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5VWM5.1)" CDS 1..478 /gene="PRAMEF15" /coded_by="NM_001098376.3:95..1531" /db_xref="CCDS:CCDS44059.1" /db_xref="GeneID:653619" /db_xref="HGNC:HGNC:26764" ORIGIN 1 mkmsirtppr llelagrsll rdqalamstl eelptelfpp lfmeafsrrr cealklmvqa 61 wpfrrlplrp likmpcleaf qavldgldal ltqgvrprrw klqvldlqdv cenfwmvwse 121 amahgcflna krnkkpvqdc prmrgrqplt vfvelwlknr tldeyltyll lwvkqrkdll 181 hlcckklkil gmpfrnirsi lkmvnldciq evevnckwvl piltqftpyl ghmrnlqklv 241 lshmdvsryv speqkkeivt qfttqflklr clqklymnsv sfleghldql lsclktslkv 301 ltitncvlle sdlkhlsqcp sisqlktldl sgirltnysl vplqillekv aatleyldld 361 dcgiidsqvn ailpalsrcf elntfsfcgn picmatlenl lshtiilknl cvelypapre 421 sygadgtlcw srfaqirael mnrvrdlrhp krilfctdyc pdcgnrsfyd leadqycc // LOCUS NP_001157908 194 aa linear PRI 05-JUL-2020 DEFINITION transmembrane protein 212 [Homo sapiens]. ACCESSION NP_001157908 XP_002342424 VERSION NP_001157908.1 DBSOURCE REFSEQ: accession NM_001164436.2 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 194) AUTHORS Brown AA, Jensen J, Nikolova YS, Djurovic S, Agartz I, Server A, Ferrell RE, Manuck SB, Mattingsdal M, Melle I, Hariri AR, Frigessi A and Andreassen OA. TITLE Genetic variants affecting the neural processing of human facial expressions: evidence using a genome-wide functional imaging approach JOURNAL Transl Psychiatry 2, e143 (2012) PUBMED 22828495 REMARK GeneRIF: The specialized function of this brain region suggests that TMEM212 could contribute to the innate architecture of face processing. Publication Status: Online-Only REFERENCE 2 (residues 1 to 194) AUTHORS Turner ST, Bailey KR, Schwartz GL, Chapman AB, Chai HS and Boerwinkle E. TITLE Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker JOURNAL Hypertension 59 (6), 1204-1211 (2012) PUBMED 22566498 REFERENCE 3 (residues 1 to 194) AUTHORS Ng MC, Hester JM, Wing MR, Li J, Xu J, Hicks PJ, Roh BH, Lu L, Divers J, Langefeld CD, Freedman BI, Palmer ND and Bowden DW. TITLE Genome-wide association of BMI in African Americans JOURNAL Obesity (Silver Spring) 20 (3), 622-627 (2012) PUBMED 21701570 REFERENCE 4 (residues 1 to 194) 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 5 (residues 1 to 194) 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 DB199311.1 and AK026825.1. On Aug 26, 2009 this sequence version replaced XP_002342424.1. ##Evidence-Data-START## Transcript exon combination :: AK026825.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158569 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000334567.9/ ENSP00000334072.5 RefSeq Select criteria :: based on longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..194 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q26.31" Protein 1..194 /product="transmembrane protein 212" /calculated_mol_wt=21294 Site 11..31 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NML5.2)" Site 44..64 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NML5.2)" Site 76..96 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NML5.2)" Site 99..119 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NML5.2)" Site 148..168 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NML5.2)" CDS 1..194 /gene="TMEM212" /coded_by="NM_001164436.2:36..620" /db_xref="CCDS:CCDS46958.1" /db_xref="GeneID:389177" /db_xref="HGNC:HGNC:34295" ORIGIN 1 mkglyqaagr ilvtlgilsv csgviaffpv fsykpwftgw svriacpiwn galaittgvl 61 lllayrewtq rylgeatftf vilsimgcpl hfaialesal lgpycfysfs giagtnylgy 121 avtfpypyak fplacvdpph yeeyhltlqa ldlclsftll ctsltvfikl sarliqnghi 181 nmqlpagnpn pfsp // LOCUS NP_001297082 530 aa linear PRI 05-JUL-2020 DEFINITION putative golgin subfamily A member 6-like protein 3 [Homo sapiens]. ACCESSION NP_001297082 XP_011506822 XP_011520608 VERSION NP_001297082.1 DBSOURCE REFSEQ: accession NM_001310153.2 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 530) 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 AC044860.11. On or before Jul 2, 2015 this sequence version replaced XP_011520608.1, XP_011506822.1. 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## 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="15" /map="15q25.3" Protein 1..530 /product="putative golgin subfamily A member 6-like protein 3" /note="golgi autoantigen, golgin subfamily a, 6-like 3" /calculated_mol_wt=61682 Region 83..>194 /region_name="GOLGA2L5" /note="Putative golgin subfamily A member 2-like protein 5; pfam15070" /db_xref="CDD:291729" CDS 1..530 /gene="GOLGA6L3" /coded_by="NM_001310153.2:122..1714" /db_xref="GeneID:100133220" /db_xref="HGNC:HGNC:37441" ORIGIN 1 mwpqprlpph pamsektqqg klaaakkklk aywqrkspgi paganrkkki ngsspdtats 61 ggyhspgdsa tgiygegras sttledlesq yqelavalds ssaiisqlte ninslvrtsk 121 eekkheihlv qklgrslfkl knqtaeplap eppagpskve qlqdetnhlr kelesvgrql 181 qaevennqml sllnrrqeer lreqeerlre qeerlreqee rlceqeerlr eqeerlreqe 241 erlceqeerl reheerlceq eerlceqeer lreqeerlhe qeerlceqee rlreqeerlc 301 eqeerlreqe erlceqeerl reqeerlceq eklpgqerll eeveklleqe rrqeeqerll 361 ererlldeve elldeveell eqerlrqqde rlwqqetlqe lerlrelerm lelgwealye 421 qraeprsgfe elnnenkstl qleqqvkelk ksggaeeprg sesaaaarpv agapvpqgaw 481 mcgqagwtpq ehpglggeav gtgeaaggag eaachsfraa enrelnitii // LOCUS NP_006785 540 aa linear PRI 05-JUL-2020 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 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 2 (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 3 (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 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)" Site 47..67 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O95800.1)" Region 59..>237 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 87..107 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O95800.1)" Site 121..141 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O95800.1)" Site 161..181 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O95800.1)" Site 206..226 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O95800.1)" 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)" 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_543139 453 aa linear PRI 05-JUL-2020 DEFINITION ankyrin repeat and SOCS box protein 16 [Homo sapiens]. ACCESSION NP_543139 VERSION NP_543139.4 DBSOURCE REFSEQ: accession NM_080863.5 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 453) 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 453) 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 AC004596.2. On Nov 5, 2002 this sequence version replaced NP_543139.3. 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, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1803614.140319.1, SRR1803615.154188.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2151405, SAMEA2155550 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000293414.6/ ENSP00000293414.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..453 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q21.31" Protein 1..453 /product="ankyrin repeat and SOCS box protein 16" /note="ankyrin repeat and SOCS box-containing protein 16" /calculated_mol_wt=49506 Region 56..85 /region_name="ankyrin repeat 1" Region 62..171 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 110..139 /region_name="ankyrin repeat 2" Region 114..228 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 114..140 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 142..171 /region_name="ankyrin repeat 3" Region 143..173 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Site order(144,148..149,152..154,156..157,161,164,173,175,177, 181..182,185..187,189..190,194,197,207,209,211,215..216, 219..221,223..224,228,231) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 147..239 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 175..207 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 175..204 /region_name="ankyrin repeat 4" Region 209..239 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 209..238 /region_name="ankyrin repeat 5" Region 214..308 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 242..314 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 242..279 /region_name="ankyrin repeat 6" Region 283..312 /region_name="ankyrin repeat 7" Region 285..>350 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 316..348 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 398..450 /region_name="SOCS box domain" Region 406..447 /region_name="SOCS_ASB_like" /note="SOCS (suppressors of cytokine signaling) box of ASB (ankyrin repeat and SOCS box) and SSB (SPRY domain-containing SOCS box proteins) protein families. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence of a variable...; cd03716" /db_xref="CDD:239686" Site order(407..412,418,428,434,439) /site_type="other" /note="putative elongin B/C interaction [polypeptide binding]" /db_xref="CDD:239686" CDS 1..453 /gene="ASB16" /coded_by="NM_080863.5:87..1448" /db_xref="CCDS:CCDS11478.1" /db_xref="GeneID:92591" /db_xref="HGNC:HGNC:19768" /db_xref="MIM:615056" ORIGIN 1 maretfpfts smlrslrlqq ewlewedrrr aaaqqcrsrr cpssprarlt rphrscrdpa 61 vhqalfsgnl qqvqalfqde eaanmivetv snqlawsaeq gfwvltpktk qtaplaiata 121 rgytdcarhl irqgaeldar vggraalhea caraqfdcvr llltfgakan vlteegttpl 181 hlctipeslq cakllleaga tvnlaagesq etplhvaaar gleqhvalyl ehgadvglrt 241 sqgetalnta cagaegpgsc rrhqaaarrl leagadaraa grkrhtplhn acangcggla 301 elllrygara evpngaghtp mdcalqavqd spnwepevlf aalldygaqp vrpemlkhca 361 nfpralevll naypcvpsce twveavlpel wkeheafyss alcmvnqprq lqhlarlavr 421 arlgsrcrqg atrlplppll rdylllrveg ciq // LOCUS NP_001291348 818 aa linear PRI 05-JUL-2020 DEFINITION IQ and AAA domain-containing protein 1-like [Homo sapiens]. ACCESSION NP_001291348 VERSION NP_001291348.1 DBSOURCE REFSEQ: accession NM_001304419.2 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 818) 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 AL045644.2, AC010973.7, DN831123.1, HM370405.1, KF459644.1, DY654655.1, DV080513.1 and AW444952.1. 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 comparison to orthologs. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology MANE Ensembl match :: ENST00000615129.4/ ENSP00000482119.1 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="7" /map="7q36.1" Protein 1..818 /product="IQ and AAA domain-containing protein 1-like" /note="IQ motif containing with AAA domain 1-like protein; putative IQ and AAA domain-containing protein 1-like; putative IQ motif containing with AAA domain 1 pseudogene 1; putative IQ and AAA domain-containing protein 1 pseudogene 1" /calculated_mol_wt=94930 Region <561..734 /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" CDS 1..818 /gene="IQCA1L" /gene_synonym="IQCA1P1" /coded_by="NM_001304419.2:43..2499" /db_xref="CCDS:CCDS78288.1" /db_xref="GeneID:392843" /db_xref="HGNC:HGNC:22831" ORIGIN 1 msegayqrlw esshatlqel ldqeqlllep apdrerqsfq yrlaslylhy lgllrrfdtv 61 ydqmvqpqkr rllrrlldgv agrvlelkde lvradlcenh cldrvlqdfk ltpadlevpi 121 pkyflleqst tvrerglila eilsrlepvs sqksftgmhr teaiilvqka erarqgrlra 181 tfmreirrde eqdgriredg whkfsqgqaa vtiqkvwkgy lqrkrtqqdr rmemefigml 241 pspnqvehls iisqpclved vqrlrqmeke eefraamvka hdslvetegp dmkekmkeqi 301 rqwfiechdl tgrfpdypda ssggsysifa dktpeqvrme lemqmqenrk keqekskekg 361 kdekekkkgk eekakkgevd avlqvlpskc ipmicaghee ylntwknrce sihpsqnyds 421 etlreekrke veleiriqvd elmrqelrkl rlavdkeeer plrapkktpg kktgkkkekd 481 ltsdrsvesl yeelvisgll rksesvalkd yigdflylgs tlslvkklpm pslfdirqnv 541 alyavlrlgs pdihimapli rsillvgpsg mgkkmlvkav ctetganlfd lspenllgky 601 pgrngaqmmv hivfkvarll qpsviwigna eknfykktpk edkemdpkri kkdltkalrl 661 ltpgdrvmli gttsrpqlae mrglcrvyer ilfmprpdya sryvlwkrmi eargiqptqh 721 ldisalakvs dgytpghilq aiqsvlserr flqlskrplv aseflgqlvk ldpvyreeee 781 slkdwyfktp lgkksmkhrm dqleaeeakl dkekkkrk // LOCUS NP_001354536 1525 aa linear PRI 05-JUL-2020 DEFINITION ankyrin repeat domain-containing protein 30B [Homo sapiens]. ACCESSION NP_001354536 XP_011523964 VERSION NP_001354536.1 DBSOURCE REFSEQ: accession NM_001367607.1 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 1525) AUTHORS Jager D, Stockert E, Gure AO, Scanlan MJ, Karbach J, Jager E, Knuth A, Old LJ and Chen YT. TITLE Identification of a tissue-specific putative transcription factor in breast tissue by serological screening of a breast cancer library JOURNAL Cancer Res. 61 (5), 2055-2061 (2001) PUBMED 11280766 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AP006564.1, AP006507.2, AP006565.1 and AP005121.2. On Dec 11, 2018 this sequence version replaced XP_011523964.1. 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, SAMEA2145313 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1525 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="18" /map="18p11.21" Protein 1..1525 /product="ankyrin repeat domain-containing protein 30B" /note="serologically defined breast cancer antigen NY-BR-1.1" /calculated_mol_wt=172860 CDS 1..1525 /gene="ANKRD30B" /gene_synonym="NY-BR-1.1" /coded_by="NM_001367607.1:249..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 kiedqmfpse 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 esfletllqn dvclpkathq kefdtlsgkl eespdkdgll kptcgrkvsl 781 pnkalelkdr etlkaespdk dgllkptcvr kvslpnkale lkdretlkaa qmfpseskqk 841 ddeenswdfe sfleallqnd gclpkathqk 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 rhlnekneev fnygnhlker idqyekekae revivrqlqk 1501 kladlnkqce aslkvtshsh slrhq // LOCUS NP_006172 580 aa linear PRI 05-JUL-2020 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" 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="other" /note="EGF-like motif" /db_xref="CDD:238012" Region 310..366 /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(311,313,320,338,341,350) /site_type="other" /note="EGF-like motif" /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="other" /note="EGF-like motif" /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:295338" 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_775809 436 aa linear PRI 06-JUL-2020 DEFINITION cyclic nucleotide-binding domain-containing protein 1 [Homo sapiens]. ACCESSION NP_775809 VERSION NP_775809.1 DBSOURCE REFSEQ: accession NM_173538.3 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 436) AUTHORS Akhmetov,I.I., Linde,E.V., Shikhova,Iu.V., Popov,D.V., Missina,S.S., Vinogradoba,O.L. and Rogozkin,V.A. TITLE [The influence of calcineurin gene polymorphism on morphofunctional characteristics of cardiovascular system of athletes] JOURNAL Ross Fiziol Zh Im I M Sechenova 94 (8), 915-922 (2008) PUBMED 18825932 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 AC090572.7, BC117328.1 and AC100799.2. ##Evidence-Data-START## Transcript exon combination :: AK093121.1, BC117328.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000518476.6/ ENSP00000430073.1 RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..436 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="8" /map="8q21.3" Protein 1..436 /product="cyclic nucleotide-binding domain-containing protein 1" /calculated_mol_wt=50093 Region 331..434 /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(403..404,413..415) /site_type="other" /note="ligand binding site [chemical binding]" /db_xref="CDD:237999" CDS 1..436 /gene="CNBD1" /coded_by="NM_173538.3:82..1392" /db_xref="CCDS:CCDS55259.1" /db_xref="GeneID:168975" /db_xref="HGNC:HGNC:26663" ORIGIN 1 mpmsslpaai lshmtainnv pppplhsipn lkkskhinyg qlnalchirg qhsrsmsnil 61 sahdtfmkqy pkvflhqkpr lpklfkqeeq relnegkees qhqqpddsnn iavhvqrahg 121 ghilyrpkra tekfeeflai lkklpihrtp yehktvwkfl ktipdltfql ndkhlktlsk 181 tvfsetwlkg stvvandgfy vilkglarpq tnvyknlieg sdspdsfisq sfhsfiwsee 241 fknstlaemy lpsydsmlsk wstfgtlevm pqnesetqmf svvteddcei lkipakgyak 301 ikeekiklen mqklklirmc pyyeewptls iyeliallkw kkfppghviv esgniisfvg 361 yinsgccniy rsiigfvklr snkvkrsqkl vymgklkeke sfgeisvllq vpftctiitk 421 kevemaiied kdlfva // LOCUS NP_001182209 287 aa linear PRI 06-JUL-2020 DEFINITION leucine-rich repeat-containing protein 72 [Homo sapiens]. ACCESSION NP_001182209 XP_001715630 XP_001716971 XP_001717281 XP_002344333 VERSION NP_001182209.1 DBSOURCE REFSEQ: accession NM_001195280.2 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 287) AUTHORS Rose JE, Behm FM, Drgon T, Johnson C and Uhl GR. TITLE Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score JOURNAL Mol. Med. 16 (7-8), 247-253 (2010) PUBMED 20379614 REMARK GeneRIF: Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) Erratum:[Mol Med. 2012;18(1):729] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC005014.2, AW341438.1, BF222754.1, DT932641.1 and DT932642.1. On or before Sep 2, 2010 this sequence version replaced XP_002344333.1, XP_001715630.2, XP_001716971.2, XP_001717281.2. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.378996.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000401542.3/ ENSP00000384971.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..287 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7p21.1" Protein 1..287 /product="leucine-rich repeat-containing protein 72" /note="leucine-rich repeat-containing protein ENSP00000371558" /calculated_mol_wt=33525 Region 46..67 /region_name="LRR 1" /note="propagated from UniProtKB/Swiss-Prot (A6NJI9.2)" Region 49..68 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275378" Region 67..107 /region_name="LRR_4" /note="Leucine Rich repeats (2 copies); pfam12799" /db_xref="CDD:289563" Region 68..89 /region_name="LRR 2" /note="propagated from UniProtKB/Swiss-Prot (A6NJI9.2)" Region 69..87 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275378" Region 90..111 /region_name="LRR 3" /note="propagated from UniProtKB/Swiss-Prot (A6NJI9.2)" Region 91..149 /region_name="LRR_8" /note="Leucine rich repeat; pfam13855" /db_xref="CDD:290566" Region 91..128 /region_name="LRR_4" /note="Leucine Rich repeats (2 copies); pfam12799" /db_xref="CDD:289563" Region 91..112 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275378" Region 112..133 /region_name="LRR 4" /note="propagated from UniProtKB/Swiss-Prot (A6NJI9.2)" Region 113..138 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275378" CDS 1..287 /gene="LRRC72" /gene_synonym="CFAP279; FAP279" /coded_by="NM_001195280.2:129..992" /db_xref="CCDS:CCDS56464.1" /db_xref="GeneID:100506049" /db_xref="HGNC:HGNC:42972" ORIGIN 1 mswdpnpvpr tlrcwrlrra setalqssrr avedqlkicg hrrdadvfel flskkeltev 61 idlsrfkklk ylwlhhnklh gitfltrnyc ltelylnnna ifeieglhyl pslhilllhh 121 neltnidatv kelkgmlnlk ilslyqnplc qynlyrlyii yhlpgvelld rnqvtekerr 181 smitifnhkk ahivqsiafg gkvdaswdpk spfkqkpaqr vpsdfafann vdktvlddpe 241 davfvrsmkr svmtltsmnw dtvptreery leeegtetaq mltvtlr // LOCUS NP_006643 89 aa linear PRI 06-JUL-2020 DEFINITION kunitz-type protease inhibitor 3 precursor [Homo sapiens]. ACCESSION NP_006643 VERSION NP_006643.1 DBSOURCE REFSEQ: accession NM_006652.2 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 Clauss A, Persson M, Lilja H and Lundwall A. TITLE Three genes expressing Kunitz domains in the epididymis are related to genes of WFDC-type protease inhibitors and semen coagulum proteins in spite of lacking similarity between their protein products JOURNAL BMC Biochem. 12, 55 (2011) PUBMED 21988899 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 89) AUTHORS Stein JL, Hua X, Lee S, Ho AJ, Leow AD, Toga AW, Saykin AJ, Shen L, Foroud T, Pankratz N, Huentelman MJ, Craig DW, Gerber JD, Allen AN, Corneveaux JJ, Dechairo BM, Potkin SG, Weiner MW and Thompson P. CONSRTM Alzheimer's Disease Neuroimaging Initiative TITLE Voxelwise genome-wide association study (vGWAS) JOURNAL Neuroimage 53 (3), 1160-1174 (2010) PUBMED 20171287 REFERENCE 3 (residues 1 to 89) AUTHORS Lundwall A. TITLE A locus on chromosome 20 encompassing genes that are highly expressed in the epididymis JOURNAL Asian J. Androl. 9 (4), 540-544 (2007) PUBMED 17589793 REMARK GeneRIF: Identifies genes on chromosome 20q12-13.1, including the gene encoding this kunitz domain-containing serine protease inhibitor. Review article REFERENCE 4 (residues 1 to 89) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AY372172.2, AL031663.2 and BX088813.1. ##Evidence-Data-START## Transcript exon combination :: AY372172.2, BX088813.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2162946, SAMEA2163623 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217428.7/ ENSP00000217428.6 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="20" /map="20q13.12" Protein 1..89 /product="kunitz-type protease inhibitor 3 precursor" /note="serine protease inhibitor, Kunitz type, 3; kunitz-type protease inhibitor 3" /calculated_mol_wt=7564 sig_peptide 1..24 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2706 Region 34..87 /region_name="KU" /note="BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure; cd00109" /db_xref="CDD:238057" Site order(44..48,50) /site_type="other" /note="trypsin interaction site" /db_xref="CDD:238057" CDS 1..89 /gene="SPINT3" /gene_synonym="HKIB9" /coded_by="NM_006652.2:15..284" /db_xref="CCDS:CCDS46608.1" /db_xref="GeneID:10816" /db_xref="HGNC:HGNC:11248" /db_xref="MIM:613941" ORIGIN 1 mqlqaslsfl liltlclelr selardtikd llpnvcafpm ekgpcqtymt rwffnfetge 61 celfayggcg gnsnnflrke kcekfckft // LOCUS NP_001157929 300 aa linear PRI 06-JUL-2020 DEFINITION putative zinc finger protein 705G [Homo sapiens]. ACCESSION NP_001157929 XP_001720569 XP_016868430 VERSION NP_001157929.1 DBSOURCE REFSEQ: accession NM_001164457.3 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC130360.4. On or before Apr 16, 2019 this sequence version replaced XP_016868430.1, XP_001720569.2. 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## CDS exon combination :: BF509407.1, BE466749.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000400156.4/ ENSP00000383020.4 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="8" /map="8p23.1" Protein 1..300 /product="putative zinc finger protein 705G" /calculated_mol_wt=34634 Region 7..66 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 7..46 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" Region <92..246 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 118..138 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(118,121,134,138) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 147..166 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 174..194 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(174,177,190,194) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(179,181,183,185..186,189..190,193,207,209,213..214, 217..218,221,235,237,239,241..242,245..246,249) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 186..211 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 202..222 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(202,205,218,222) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 214..239 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 230..250 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(230,233,246,250) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 258..278 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(258,261,274,278) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..300 /gene="ZNF705G" /coded_by="NM_001164457.3:283..1185" /db_xref="CCDS:CCDS47773.1" /db_xref="GeneID:100131980" /db_xref="HGNC:HGNC:37134" ORIGIN 1 mhslkkltfe dvaidftqee wammdtskrk lyrdvmleni shlvslgyqi sksyiilqle 61 qgkelwregr vflqdqnpnr esalkkthmi smhpitrkda stsmtmensl iledpfecnd 121 sgedctrsst itqcllthsg kkpyvskqcg kslrnllste phkqihtkgk syqcnlceka 181 ytncfhlrrh kmthtgerpy achlcrkaft qcshlrrhek thtgqrpykc hqygkvfiqs 241 fnlqrherth lgkkcyecdk sgkafsqssg frgnkiihtg ekphacllcg kafslssnlr // LOCUS NP_963844 277 aa linear PRI 06-JUL-2020 DEFINITION leucine-rich repeat-containing protein 10 [Homo sapiens]. ACCESSION NP_963844 VERSION NP_963844.2 DBSOURCE REFSEQ: accession NM_201550.4 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 Woon MT, Long PA, Reilly L, Evans JM, Keefe AM, Lea MR, Beglinger CJ, Balijepalli RC, Lee Y, Olson TM and Kamp TJ. TITLE Pediatric Dilated Cardiomyopathy-Associated LRRC10 (Leucine-Rich Repeat-Containing 10) Variant Reveals LRRC10 as an Auxiliary Subunit of Cardiac L-Type Ca(2+) Channels JOURNAL J Am Heart Assoc 7 (3), e006428 (2018) PUBMED 29431102 REMARK GeneRIF: Examination of a patient with dilated cardiomyopathy revealed homozygosity for a previously unreported LRRC10 variant: I195T. Wild-type and I195T LRRC10 function as cardiac-specific subunits of L-type Ca(2+) channels and exert dramatically different effects on channel gating, providing a potential link to DCM. Publication Status: Online-Only REFERENCE 2 (residues 1 to 277) AUTHORS Huang L, Tang S, Chen Y, Zhang L, Yin K, Wu Y, Zheng J, Wu Q, Makielski JC and Cheng J. TITLE Molecular pathological study on LRRC10 in sudden unexplained nocturnal death syndrome in the Chinese Han population JOURNAL Int. J. Legal Med. 131 (3), 621-628 (2017) PUBMED 28032242 REMARK GeneRIF: LRRC10 may be a new susceptible gene for Sudden unexplained nocturnal death syndrome, and LRRC10 variant was initially and genetically linked to Brugada syndrome associated arrhythmia. REFERENCE 3 (residues 1 to 277) AUTHORS Brody MJ, Feng L, Grimes AC, Hacker TA, Olson TM, Kamp TJ, Balijepalli RC and Lee Y. TITLE LRRC10 is required to maintain cardiac function in response to pressure overload JOURNAL Am. J. Physiol. Heart Circ. Physiol. 310 (2), H269-H278 (2016) PUBMED 26608339 REFERENCE 4 (residues 1 to 277) AUTHORS Qu XK, Yuan F, Li RG, Xu L, Jing WF, Liu H, Xu YJ, Zhang M, Liu X, Fang WY, Yang YQ and Qiu XB. TITLE Prevalence and spectrum of LRRC10 mutations associated with idiopathic dilated cardiomyopathy JOURNAL Mol Med Rep 12 (3), 3718-3724 (2015) PUBMED 26017719 REMARK GeneRIF: This study firstly reports the association of LRRC10 mutations with enhanced susceptibility to dilated cardiomyopathy in humans. REFERENCE 5 (residues 1 to 277) 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 6 (residues 1 to 277) AUTHORS Nakane T, Satoh T, Inada Y, Nakayama J, Itoh F and Chiba S. TITLE Molecular cloning and expression of HRLRRP, a novel heart-restricted leucine-rich repeat protein JOURNAL Biochem. Biophys. Res. Commun. 314 (4), 1086-1092 (2004) PUBMED 14751244 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC090881.1 and AC018921.22. On May 3, 2005 this sequence version replaced NP_963844.1. ##Evidence-Data-START## Transcript is intronless :: BC090881.1, AK123908.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000361484.5/ ENSP00000355166.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..277 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q15" Protein 1..277 /product="leucine-rich repeat-containing protein 10" /note="heart-restricted leucine-rich repeat protein" /calculated_mol_wt=31511 Region <33..>235 /region_name="LRR" /note="Leucine-rich repeat (LRR) protein [Transcription]; COG4886" /db_xref="CDD:227223" Region 53..74 /region_name="LRR 1" /note="propagated from UniProtKB/Swiss-Prot (Q5BKY1.1)" Region 54..76 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 76..97 /region_name="LRR 2" /note="propagated from UniProtKB/Swiss-Prot (Q5BKY1.1)" Region 77..99 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 99..120 /region_name="LRR 3" /note="propagated from UniProtKB/Swiss-Prot (Q5BKY1.1)" Region 100..122 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 122..143 /region_name="LRR 4" /note="propagated from UniProtKB/Swiss-Prot (Q5BKY1.1)" Region 123..145 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 145..167 /region_name="LRR 5" /note="propagated from UniProtKB/Swiss-Prot (Q5BKY1.1)" Region 146..168 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 168..189 /region_name="LRR 6" /note="propagated from UniProtKB/Swiss-Prot (Q5BKY1.1)" Region 169..191 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 191..212 /region_name="LRR 7" /note="propagated from UniProtKB/Swiss-Prot (Q5BKY1.1)" Region 192..213 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" CDS 1..277 /gene="LRRC10" /gene_synonym="HRLRRP; LRRC10A" /coded_by="NM_201550.4:70..903" /db_xref="CCDS:CCDS31856.1" /db_xref="GeneID:376132" /db_xref="HGNC:HGNC:20264" /db_xref="MIM:610846" ORIGIN 1 mgntiralva fipadrcqny vvrdlrempl dkmvdlsgsq lrrfplhvcs frelvklyls 61 dnhlnslppe lgqlqnlqil aldfnnfkal pqvvctlkql cilylgnnkl cdlpselsll 121 qnlrtlwiea ncltqlpdvv celsllktlh agsnalrllp gqlrrlqelr tiwlsgnrlt 181 dfptvllhmp flevidvdwn siryfpslah lsslklviyd hnpcrnapkv akgvrrvgrw 241 aeetpepdpr karryalvre esqelqapvp llpptns // LOCUS NP_001019850 250 aa linear PRI 06-JUL-2020 DEFINITION skin-specific protein 32 [Homo sapiens]. ACCESSION NP_001019850 XP_001721606 XP_001724496 XP_001724517 VERSION NP_001019850.1 DBSOURCE REFSEQ: accession NM_001024679.3 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 Edqvist PH, Fagerberg L, Hallstrom BM, Danielsson A, Edlund K, Uhlen M and Ponten F. TITLE Expression of human skin-specific genes defined by transcriptomics and antibody-based profiling JOURNAL J. Histochem. Cytochem. 63 (2), 129-141 (2015) PUBMED 25411189 REFERENCE 2 (residues 1 to 250) AUTHORS Kumar V, Cheng SC, Johnson MD, Smeekens SP, Wojtowicz A, Giamarellos-Bourboulis E, Karjalainen J, Franke L, Withoff S, Plantinga TS, van de Veerdonk FL, van der Meer JWM, Joosten LAB, Bochud PY, Marchetti O, Perfect JR, Xavier R, Kullberg BJ, Wijmenga C and Netea MG. TITLE Immunochip SNP array identifies novel genetic variants conferring susceptibility to candidaemia JOURNAL Nat Commun 5, 4675 (2014) PUBMED 25197941 REMARK GeneRIF: SNPs in C1orf68 are associated with increased risk of candidemia. Publication Status: Online-Only REFERENCE 3 (residues 1 to 250) 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 4 (residues 1 to 250) 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 5 (residues 1 to 250) 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 REFERENCE 6 (residues 1 to 250) AUTHORS Zhao XP and Elder JT. TITLE Positional cloning of novel skin-specific genes from the human epidermal differentiation complex JOURNAL Genomics 45 (2), 250-258 (1997) PUBMED 9344646 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL353779.11, CU457096.1 and CU446285.1. On or before Jul 24, 2008 this sequence version replaced XP_001721606.1, XP_001724517.1, XP_001724496.1. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000368775.3/ ENSP00000357764.2 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="1" /map="1q21.3" Protein 1..250 /product="skin-specific protein 32" /note="skin-specific protein (xp32)" /calculated_mol_wt=26107 Region <34..>165 /region_name="PRK10263" /note="DNA translocase FtsK; Provisional" /db_xref="CDD:236669" CDS 1..250 /gene="C1orf68" /gene_synonym="LEP7; XP32" /coded_by="NM_001024679.3:1..753" /db_xref="CCDS:CCDS44226.1" /db_xref="GeneID:100129271" /db_xref="HGNC:HGNC:29468" ORIGIN 1 mcdqqkqpqf ppscvkgsgl gagqgsngas vkcpvpcqtq tvcvtgpapc ptqtyvkyqv 61 pcqtqtyvkc papcqrtyvk yptpcqtyvk cpapcqttyv kcptpcqtyv kcpapcqmty 121 ikspapcqtq tcyvqgaspc qsyyvqapas gstsqycvtd pcsapcstsy cclaprtfgv 181 splrrwiqrp qncntgssgc censgssgcc gsggcgcscg cgssgccclg iipmrsrgpa 241 ccdheddccc // LOCUS NP_001005212 310 aa linear PRI 06-JUL-2020 DEFINITION olfactory receptor 9Q1 [Homo sapiens]. ACCESSION NP_001005212 XP_166914 VERSION NP_001005212.1 DBSOURCE REFSEQ: accession NM_001005212.4 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 310) 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 AP003484.2 and AP004247.2. On Sep 25, 2004 this sequence version replaced XP_166914.3. 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]. Sequence Note: The RefSeq transcript and protein were derived from 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/partial sample support SAMEA2149398, SAMN03465407 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000335397.3/ ENSP00000334934.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..310 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11q12.1" Protein 1..310 /product="olfactory receptor 9Q1" /calculated_mol_wt=34626 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGQ5.1)" Site 26..46 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ5.1)" Region 34..293 /region_name="7tmA_OR5-like" /note="olfactory receptor family 5 and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors; cd15230" /db_xref="CDD:320358" Site 55..75 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ5.1)" Region 59..85 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320358" 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, 267..268,270..272,275,278..279) /site_type="other" /note="putative ligand binding pocket [chemical binding]" /db_xref="CDD:320358" Region 97..127 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320358" Site 100..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ5.1)" Region 140..161 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320358" Site 140..160 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ5.1)" Region 195..225 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320358" Site 198..217 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ5.1)" Region 231..261 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320358" Site 237..257 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ5.1)" Region 268..293 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320358" Site 271..291 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGQ5.1)" CDS 1..310 /gene="OR9Q1" /coded_by="NM_001005212.4:317..1249" /db_xref="CCDS:CCDS31543.1" /db_xref="GeneID:219956" /db_xref="HGNC:HGNC:14724" ORIGIN 1 maemnltlvt eflliaftey pewalplfll flfmylitvl gnlemiilil mdhqlhapmy 61 fllshlafmd vcyssitvpq mlavllehga alsytrcaaq fflftffgsi dcyllalmay 121 drylavcqpl lyvtiltqqa rlslvagayv aglisalvrt vsaftlsfcg tseidfifcd 181 lppllkltcg esytqevlii mfaifvipas mvvilvsylf iivaimgipa gsqaktfstc 241 tshltavslf fgtlifmylr gnsdqssekn rvvsvlytev ipmlnpliys lrnkevkeal 301 rkilnrakls // LOCUS NP_001297077 1222 aa linear PRI 08-JUL-2020 DEFINITION nuclear pore complex-interacting protein family member B4 isoform a [Homo sapiens]. ACCESSION NP_001297077 VERSION NP_001297077.1 DBSOURCE REFSEQ: accession NM_001310148.2 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 1222) 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 AC092375.4. Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1-3 all encode the same isoform (a). ##Evidence-Data-START## CDS exon combination :: DC318008.1 [ECO:0000331] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1222 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p12.2" Protein 1..1222 /product="nuclear pore complex-interacting protein family member B4 isoform a" /note="nuclear pore complex interacting protein-like" /calculated_mol_wt=135096 Region <1..41 /region_name="AFD_class_I" /note="Adenylate forming domain, Class I superfamily; cl17068" /db_xref="CDD:302604" Region 41..302 /region_name="NPIP" /note="Nuclear pore complex interacting protein (NPIP); pfam06409" /db_xref="CDD:283949" Region <1137..>1212 /region_name="SWIRM-assoc_2" /note="SWIRM-associated domain at the N-terminal; pfam16496" /db_xref="CDD:293105" CDS 1..1222 /gene="NPIPB4" /gene_synonym="61E3.4" /coded_by="NM_001310148.2:226..3894" /note="isoform a is encoded by transcript variant 1" /db_xref="GeneID:440345" /db_xref="HGNC:HGNC:41985" ORIGIN 1 mvklsivltp qflshdqgql tkelqqhvks vtcpceylrk vintladhhh rgtdfggspw 61 lhviiafpts ykvvitlwiv ylwvsllkti fwsrnghdgs tdvqqrawrs nrrrqeglrs 121 icmhtkkrvs sfrgnkivlk dvitlrrhve tkvrakirkr kvttkinhhd kingkrktar 181 kqkmfqraqe lrrraedyhk ckippsarka lcnwvrmaaa ehrhssglpy wpyltaetlk 241 nrmghqpppp tqqhsitdns lslktppecl ltplppsadd nlktppecvl tplppsaddn 301 lktppecvlt plppsaddnl ktppeclltp lppsaddklk tppeclltpl ppsalpsapp 361 saddnlktra ecllhplpps addnlktpse rqltplppsa ppsaddnikt paerlrgplp 421 psaddnlktp serqltplpp sappsaddni ktpaerlrgp lppsaddnlk tpserqltpl 481 ppsappsadd niktpaerlr gplppsaddn lktpserqlt plppsappsa ddniktpaer 541 lrgplppsad dnlktpserq ltplppsapp saddniktpa erlrgplpps addnlktpse 601 rqltplppsa ppsaddnikt pafhpqrmii srhlpsvssl pfhpqlhpqq miisryllsv 661 cgfrfhhqpm iisrhlpsvs slpfhpqlhp qqmiisrhlp svcggrfhpq rmiisrhlps 721 vsslpfhpql hpqqmiisrh lpsvcggrfh pqrmiisrhl psvsslpfhp qlhpqqmiis 781 rhlpsvcggr fhpqrmiisr hlpsvsslpf htqlhpqqmi isrhlpsvcg erlrgplpps 841 addnlktpse rqltplppsa ppsaddnikt paerlrgplp psaddnlktp serqltplpp 901 sappsaddni ktpaerlrgp lppsaddnlk tpserqltpl ppsappsadd niktpaerlr 961 gplppsaddn lktpserqlt plppsappsa ddniktpaer lrgplppsad dnlktpserq 1021 ltplppsapp saddniktpa erlrgplpps addnlktpse rqltplppsa ppsaddnikt 1081 paerlrgplp psaddnlktp platqeaeae kprkpkrqra aemepppepk rrrvgdveps 1141 rkpkrrraad vepsspepkr rrvgdvepsr kpkrrraadv epsspepkrr rvgdvepsrk 1201 pkrrraadve pslpepkrrr ls // LOCUS NP_001096069 503 aa linear PRI 08-JUL-2020 DEFINITION carcinoembryonic antigen-related cell adhesion molecule 20 isoform 4L precursor [Homo sapiens]. ACCESSION NP_001096069 VERSION NP_001096069.2 DBSOURCE REFSEQ: accession NM_001102599.3 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 503) AUTHORS Daniwijaya EW, Murata Y, Kotani T, Kitamura Y, Mantilidewi KI, Kusakari S, Ohnishi H, Okazawa H and Matozaki T. TITLE Tyrosine Phosphorylation of Carcinoembryonic Antigen-related Cell Adhesion Molecule 20 and Its Functional Role JOURNAL Kobe J Med Sci 59 (5), E172-E183 (2013) PUBMED 28659570 REMARK GeneRIF: tyrosine phosphorylation of CEACAM20 likely promotes phagocytic activity Publication Status: Online-Only REFERENCE 2 (residues 1 to 503) AUTHORS Zhang H, Eisenried A, Zimmermann W and Shively JE. TITLE Role of CEACAM1 and CEACAM20 in an in vitro model of prostate morphogenesis JOURNAL PLoS ONE 8 (1), e53359 (2013) PUBMED 23358633 REMARK GeneRIF: conclude that CEACAM20 and CEACAM1 not only mark the lumina of adult prostate tissue but also play a critical role in the vitro generation of prostate organoids REFERENCE 3 (residues 1 to 503) AUTHORS Zebhauser R, Kammerer R, Eisenried A, McLellan A, Moore T and Zimmermann W. TITLE Identification of a novel group of evolutionarily conserved members within the rapidly diverging murine Cea family JOURNAL Genomics 86 (5), 566-580 (2005) PUBMED 16139472 REFERENCE 4 (residues 1 to 503) 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 AC245748.2, EU008602.1, AY358129.1 and EU008600.1. On Feb 11, 2014 this sequence version replaced NP_001096069.1. Transcript Variant: This variant (4L) lacks an alternate in-frame exon in the central coding region, compared to variant 5L, resulting in an isoform (4L) that is shorter than isoform 5L. ##Evidence-Data-START## Transcript exon combination :: EU008602.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..503 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.31" Protein 1..503 /product="carcinoembryonic antigen-related cell adhesion molecule 20 isoform 4L precursor" /note="GPAD9366; carcinoembryonic antigen related cell adhesion molecule 20" /calculated_mol_wt=52450 sig_peptide 1..30 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3151 Region 69..156 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:299845" Region 70..143 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" Site 96 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Site 105 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Region 175..247 /region_name="Ig_2" /note="Immunoglobulin domain; pfam13895" /db_xref="CDD:290606" Region 175..247 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" Region 266..343 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:299845" Site 280 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Site 306 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Site 317 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Region 379..>434 /region_name="C_Hendra" /note="C protein from hendra and measles viruses; pfam16821" /db_xref="CDD:293426" CDS 1..503 /gene="CEACAM20" /gene_synonym="UNQ9366" /coded_by="NM_001102599.3:167..1678" /note="isoform 4L precursor is encoded by transcript variant 4L" /db_xref="CCDS:CCDS74391.1" /db_xref="GeneID:125931" /db_xref="HGNC:HGNC:24879" ORIGIN 1 mgpadswghh wmgillsasl ctvwsppaaa qltlnanpld atqsedvvlp vfgtprtpqi 61 hgrsrelakp siavspgtai eqkdmvtfyc ttkdvnitih wvsnnlsivf hermqlskdg 121 kiltilivqr edsgtyqcea rdallsqrsd pifldvkygp dpveiklesg vasgevvevm 181 egssmtflae tkshppcayt wflldsilsh ttrtftihav sreheglyrc lvsnsathls 241 slgtlkvrvl etltmpqvvp sslnlvenar svdltcqtvn qsvnvqwfls gqpllpsehl 301 qlsadnrtli ihglqrndtg pyacevwnwg srarseplel tincpqsssl ssgaiagivi 361 gilaviavas elgyflcirn arrpsrktte dpshetsqpi pkeehpteps seslspeyrn 421 isqlqgrirv elmqppdlpe etyetklpsa srrgnsfspw kpppkplmpp lrlvstvpkn 481 mesiyeelvn pepntyiqin psv // LOCUS NP_001171887 782 aa linear PRI 08-JUL-2020 DEFINITION uncharacterized protein C3orf20 isoform 2 [Homo sapiens]. ACCESSION NP_001171887 VERSION NP_001171887.1 DBSOURCE REFSEQ: accession NM_001184958.2 KEYWORDS RefSeq. SOURCE Homo 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 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, BG718869.1, BC030599.2, AC090957.1 and BC038406.1. 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 encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both 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. ##Evidence-Data-START## Transcript exon combination :: BC030599.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..782 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3p25.1" Protein 1..782 /product="uncharacterized protein C3orf20 isoform 2" /note="uncharacterized protein C3orf20" /calculated_mol_wt=87899 Region 239..442 /region_name="FAM194" /note="FAM194 protein; pfam14977" /db_xref="CDD:317400" CDS 1..782 /gene="C3orf20" /coded_by="NM_001184958.2:380..2728" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS54555.1" /db_xref="GeneID:84077" /db_xref="HGNC:HGNC:25320" ORIGIN 1 marqvrthqe tlnrfqqqsi hlltellrlk mkamvesmsv ganplditrr fveasqllhl 61 nakemafncl istagrsgys sgqlwkesla nmsaigvnsp yqliyhssta clsfslsagk 121 eakkkigksr ttedvsmppl hrgvgtpans lefsdpcpea reklqelcrh ieaeratwkg 181 rnisypmilr nykakmpshl mlarkgdsqt pglhypptag aqtlsptshp ssanhhfsqh 241 cqegkapkka fkfhytfydg ssfvyypsgn vavcqiptcc rgrtitclfn dipgfsllal 301 fntegqgcvh ynlktscpyv lildeeggtt ndqqgyvvhk wswtsrtetl lsleykvnee 361 mklkvlgqds itvtftslne tvtltvsann cphgmaydkr lnrrisnmdd kvykmsrala 421 eikkrfqktv tqfinsilla aglftieypt kkeeeefvrf kmrsrthper lpklslysge 481 sllrsqsghl essiaetlkd epesapvspv rkttkihtka kvtsrgkare grsptrwaal 541 psdcplvlrk lmlkedtrag ckclvkaplv sdvelerfll aprdpsqvlv fgiissqnyt 601 stgqlqwlln tlynhqqrgr gspciqcryd syrllqydld splqedpplm vkknsvvqgm 661 ilmfaggkli fggrvlngyg lskqnllkqi frsqqdykmg yflpddykfs vpnsvlsled 721 sesvkkaese diqgssssla ledyvekels leaektrepe velhplsrds kitswkkqas 781 kk // LOCUS NP_001264057 496 aa linear PRI 08-JUL-2020 DEFINITION leucine-rich repeat-containing protein 31 isoform 3 [Homo sapiens]. ACCESSION NP_001264057 VERSION NP_001264057.1 DBSOURCE REFSEQ: accession NM_001277128.2 KEYWORDS RefSeq. SOURCE Homo 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 D'Mello RJ, Caldwell JM, Azouz NP, Wen T, Sherrill JD, Hogan SP and Rothenberg ME. TITLE LRRC31 is induced by IL-13 and regulates kallikrein expression and barrier function in the esophageal epithelium JOURNAL Mucosal Immunol 9 (3), 744-756 (2016) PUBMED 26462420 REMARK GeneRIF: this report shows that leucine-rich repeat-containing protein 31 (LRRC31) regulates esophageal epithelial barrier function REFERENCE 2 (residues 1 to 496) AUTHORS Walsh KM, Codd V, Smirnov IV, Rice T, Decker PA, Hansen HM, Kollmeyer T, Kosel ML, Molinaro AM, McCoy LS, Bracci PM, Cabriga BS, Pekmezci M, Zheng S, Wiemels JL, Pico AR, Tihan T, Berger MS, Chang SM, Prados MD, Lachance DH, O'Neill BP, Sicotte H, Eckel-Passow JE, van der Harst P, Wiencke JK, Samani NJ, Jenkins RB and Wrensch MR. CONSRTM ENGAGE Consortium Telomere Group TITLE Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk JOURNAL Nat. Genet. 46 (7), 731-735 (2014) PUBMED 24908248 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA425899.1, AK026912.1, BC117401.1 and AC078795.19. 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 :: AK026912.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..496 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q26.2" Protein 1..496 /product="leucine-rich repeat-containing protein 31 isoform 3" /note="leucine-rich repeat-containing protein 31; epididymis secretory protein Li 293; epididymis secretory sperm binding protein" /calculated_mol_wt=55196 Region 91..115 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 116..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 164..433 /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" Region 172..199 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site order(178..179,235,291,319,375,402,404,431) /site_type="other" /note="Substrate binding site [chemical binding]" /db_xref="CDD:238064" Region 200..227 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 228..255 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 256..283 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 284..311 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 312..339 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 368..397 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" CDS 1..496 /gene="LRRC31" /gene_synonym="HEL-S-293" /coded_by="NM_001277128.2:129..1619" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS63832.1" /db_xref="GeneID:79782" /db_xref="HGNC:HGNC:26261" ORIGIN 1 msqtrkktss egetkpqtst vnkflrgsna esrkedndlk tsdsqpsdwi qktatsetak 61 plssemewrs smeknehflq klgkkavnkc ldlnncgltt admkemgeaf emipeleeln 121 lswnskvggn lplilqkfqk gskiqmielv dcsltsedgt flgqllpmlq slevldlsin 181 rdivgslnsi aqglkstsnl kvlklhscgl sqksvkilda afrylgelrk ldlscnkdlg 241 ggfedspaql vmlkhlqvld lhqcsltadd vmsltqvipl lsnlqeldls ankkmgssse 301 nllsrlrflp alkslvinnc alesetftal aeasvhlsal evfnlswnkc vggnlkllle 361 tlklsmslqv lrlsscslvt edvallasvi qtghlaklqk ldlsyndsic dagwtmfcqn 421 vrflkeliel dislrpsnfr dcgqwfrhll yavtklpqit eigmkrwilp asqeeelecf 481 dqdkkrsihf dhggfq // LOCUS NP_001136273 619 aa linear PRI 08-JUL-2020 DEFINITION protein eyes shut homolog isoform 2 precursor [Homo sapiens]. ACCESSION NP_001136273 XP_001126128 XP_001715588 XP_001717821 XP_001717823 XP_001724691 XP_001724767 VERSION NP_001136273.1 DBSOURCE REFSEQ: accession NM_001142801.2 KEYWORDS RefSeq. SOURCE Homo 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 Iwanami M, Oishi A, Ogino K, Seko Y, Nishida-Shimizu T, Yoshimura N and Kato S. TITLE Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa JOURNAL Mol. Vis. 25, 766-779 (2019) PUBMED 31814702 REMARK GeneRIF: This is the first report showing the pathogenicity of three missense variants (p.(Gly843Glu), p.(Gly2186Glu), and p.(Ile2188Thr)) and the presence of copy number variations in the EYS gene. Publication Status: Online-Only REFERENCE 2 (residues 1 to 619) AUTHORS Ji D, Xing W, Li F, Huang Z, Zheng W, Hu B, Niu F, Zhu Y and Yang X. TITLE Correlation of EYS polymorphisms with lumbar disc herniation risk among Han Chinese population JOURNAL Mol Genet Genomic Med 7 (9), e890 (2019) PUBMED 31359629 REMARK GeneRIF: These results suggest that EYS polymorphism may be associated with lumbar disc herniation among Han Chinese population. It also opens up a new exploration direction for the etiology of lumbar disc herniation. REFERENCE 3 (residues 1 to 619) AUTHORS Pierrache LHM, Messchaert M, Thiadens AAHJ, Haer-Wigman L, de Jong-Hesse Y, van Zelst-Stams WAG, Collin RWJ, Klaver CCW and van den Born LI. TITLE Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy JOURNAL Invest. Ophthalmol. Vis. Sci. 60 (6), 2049-2063 (2019) PUBMED 31074760 REMARK GeneRIF: Identical EYS variants were found in cases with RP, CRD, and macular dystrophy. Screening for EYS variants in CRD and macular dystrophy patients might increase the diagnostic yield in previously unsolved cases REFERENCE 4 (residues 1 to 619) AUTHORS Xiao X, Cao Y, Chen S, Chen M, Mai X, Zheng Y, Zhuang X, Ng TK and Chen H. TITLE Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa JOURNAL Mol. Vis. 25, 35-46 (2019) PUBMED 30804660 REMARK GeneRIF: The study identified eight novel EYS variants and expanded the spectrum of EYS mutations in Chinese retinitis pigmentosa patients. Publication Status: Online-Only REFERENCE 5 (residues 1 to 619) AUTHORS Collin RW, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EA, Strom TM, Hoyng CB, den Hollander AI and Cremers FP. TITLE Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa JOURNAL Am. J. Hum. Genet. 83 (5), 594-603 (2008) PUBMED 18976725 REMARK GeneRIF: EYS is identified as a human ortholog of Drosopbhila eys, which is mutated in patients with retinitis pigmentosa. REFERENCE 6 (residues 1 to 619) AUTHORS Barragan I, Abd El-Aziz MM, Borrego S, El-Ashry MF, O'Driscoll C, Bhattacharya SS and Antinolo G. TITLE Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families JOURNAL Ann. Hum. Genet. 72 (Pt 4), 454-462 (2008) PUBMED 18510647 REMARK GeneRIF: In order to validate the original linkage of RP25, study undertook a total genome scan using the 10K GeneChip mapping array on 3 of the previously linked families; data obtained supported the initial findings of linkage. REFERENCE 7 (residues 1 to 619) AUTHORS Abd El-Aziz MM, Barragan I, O'Driscoll C, Borrego S, Abu-Safieh L, Pieras JI, El-Ashry MF, Prigmore E, Carter N, Antinolo G and Bhattacharya SS. TITLE Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval JOURNAL Ann. Hum. Genet. 72 (Pt 4), 463-477 (2008) PUBMED 18510646 REMARK GeneRIF: To study if copy number variation exists within RP25, comparative genomic hybridization analysis on a consanguineous family revealed a clone, chr6tp-19C7, spanning 100-Kb was deleted in all affected members of the family. Erratum:[Ann Hum Genet. 2015 Jan;79(1):83] REFERENCE 8 (residues 1 to 619) AUTHORS Khaliq,S., Hameed,A., Ismail,M., Mehdi,S.Q., Bessant,D.A., Payne,A.M. and Bhattacharya,S.S. TITLE Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin JOURNAL Am. J. Hum. Genet. 65 (2), 571-574 (1999) PUBMED 10417302 REFERENCE 9 (residues 1 to 619) AUTHORS Ruiz A, Borrego S, Marcos I and Antinolo G. TITLE A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters JOURNAL Am. J. Hum. Genet. 62 (6), 1452-1459 (1998) PUBMED 9585594 REFERENCE 10 (residues 1 to 619) AUTHORS Fahim,A.T., Daiger,S.P. and Weleber,R.G. TITLE Nonsyndromic Retinitis Pigmentosa Overview JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K 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 AL450319.4, FJ416331.1, BX537914.1 and AL365217.10. On or before Mar 1, 2009 this sequence version replaced XP_001715588.1, XP_001724691.1, XP_001126128.2, XP_001717821.1, XP_001717823.1, XP_001724767.1. Summary: The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. Transcript Variant: This variant (2) lacks several 3' exons but contains an alternate 3' terminal exon, and it thus differs in its 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a substantially shorter and unique 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 :: BX537914.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..619 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6q12" Protein 1..619 /product="protein eyes shut homolog isoform 2 precursor" /note="EGF-like-domain, multiple 11; EGF-like-domain, multiple 10; protein spacemaker homolog; epidermal growth factor-like protein 10; epidermal growth factor-like protein 11" /calculated_mol_wt=67556 sig_peptide 1..21 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" /calculated_mol_wt=2340 Site 166 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 269 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 272 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 311 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 343 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 506 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 566 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" CDS 1..619 /gene="EYS" /gene_synonym="bA166P24.2; bA307F22.3; bA74E24.1; C6orf178; C6orf179; C6orf180; dJ1018A4.2; dJ22I17.2; dJ303F19.1; EGFL10; EGFL11; RP25; SPAM" /coded_by="NM_001142801.2:540..2399" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS47446.1" /db_xref="GeneID:346007" /db_xref="HGNC:HGNC:21555" /db_xref="MIM:612424" ORIGIN 1 mtdksivils lmvfhssfin gktcrrqlve ewhpqpssyv vnwtltenic ldfyrdcwfl 61 gvntkidtsg nqavpqicpl qiqlgdilvi ssepslqfpe inlmnvsets fvgcvqnttt 121 edqllfgcrl kgmhtvnskw lsvgthyfit vmasgpspcp lglrlnvtvk qqfcqeslss 181 efcsghgkcl seawsktysc hcqppfsgky cqeldacsfk pcknngscin krenwdeqay 241 ecvchppftg kncseiigqc qphvcfhgnc snitsnsfic ecdeqfsgpf cevsakpcvs 301 llfwkrgicp nsssaytyec pkgsssqnge tdvsefslvp cqngtdciki sndvmcicsp 361 iftdllcksi qtscesfplr nnatckkcek dypcscisgf tekncekaid hckllsincl 421 neewcfniig rfkyvcipgc tknpcwflkn vylihqhlcy cgvtfhgicq dkgpaqfeyv 481 wqlgfagseg ekcqgviday fflaancted atyvndpedn nsscwfpheg tkeicangcs 541 clseedsqey rylcflrwag nmylenttdd qenecqheav ckdeinrprr ilntviphqi 601 qqhierfiqh dqvgfivri // LOCUS NP_945148 452 aa linear PRI 08-JUL-2020 DEFINITION pyrin and HIN domain-containing protein 1 isoform beta 2 [Homo sapiens]. ACCESSION NP_945148 VERSION NP_945148.1 DBSOURCE REFSEQ: accession NM_198930.4 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 452) 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 2 (residues 1 to 452) 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 3 (residues 1 to 452) 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 4 (residues 1 to 452) 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 5 (residues 1 to 452) 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 6 (residues 1 to 452) 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, AY185347.1, BC073133.1 and AW518129.1. 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 (4) uses an alternate, in-frame acceptor splice site at an internal coding exon, and lacks the penultimate exon compared to variant 1. This results in a frame-shift, and a shorter isoform (beta 2) missing a 9 aa protein segment in the 5' coding region, and with a distinct C-terminus compared to isoform alpha 1. ##Evidence-Data-START## Transcript exon combination :: AY185347.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..452 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q23.1" Protein 1..452 /product="pyrin and HIN domain-containing protein 1 isoform beta 2" /note="interferon-inducible protein X; pyrin and HIN domain-containing protein 1" /calculated_mol_wt=50859 Region 10..83 /region_name="Pyrin" /note="Pyrin: a protein-protein interaction domain; cd08305" /db_xref="CDD:260019" Region 203..370 /region_name="HIN" /note="HIN-200/IF120x domain; pfam02760" /db_xref="CDD:280856" CDS 1..452 /gene="PYHIN1" /gene_synonym="IFIX" /coded_by="NM_198930.4:246..1604" /note="isoform beta 2 is encoded by transcript variant 4" /db_xref="CCDS:CCDS30908.1" /db_xref="GeneID:149628" /db_xref="HGNC:HGNC:28894" /db_xref="MIM:612677" ORIGIN 1 mannykkivl lkglevindy hfrivkslls ndlklnpkmk eeydkiqiad lmeekfpgda 61 glgklieffk eiptlgdlae tlkreklkvk giipskktkq kevypatpac tpsnrltakg 121 aeetlgpqkr kkpseeetgt krskmskeqt rpscsagast stamgrsppp qtsssappnt 181 ssteslkpla nrhataskni fredpiiamv lnatkvfkye sseneqrrmf hatvatqtqf 241 fhvkvlninl krkfikkrii iisnyskrns llevneassv seagpdqtfe vpkdiirrak 301 kipkinilhk qtsgyivygl fmlhtkivnr kttiyeiqdk tgsmavvgkg echnipcekg 361 dklrlfcfrl rkrenmsklm semhsfiqiq kntnqrshds rsmalpqeqs qhpkpseast 421 tlpeshlktp qmppttpsss sftkvtkdkd ik // LOCUS NP_001153585 167 aa linear PRI 08-JUL-2020 DEFINITION UPF0235 protein C15orf40 isoform b [Homo sapiens]. ACCESSION NP_001153585 VERSION NP_001153585.1 DBSOURCE REFSEQ: accession NM_001160113.2 KEYWORDS RefSeq. SOURCE Homo 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 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, Trigg 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 167) 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 167) 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 DC428269.1 and AC022558.9. Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. It encodes isoform b which has a longer and distinct C-terminus compared to isoform a. ##Evidence-Data-START## Transcript exon combination :: DC428269.1, HY076681.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..167 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q25.2" Protein 1..167 /product="UPF0235 protein C15orf40 isoform b" /note="UPF0235 protein C15orf40" /calculated_mol_wt=17562 Region 65..122 /region_name="DUF167" /note="uncharacterized ACR, YggU family COG1872; pfam02594" /db_xref="CDD:280714" Site 116 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q8WUR7.2)" CDS 1..167 /gene="C15orf40" /coded_by="NM_001160113.2:33..536" /note="isoform b is encoded by transcript variant 2" /db_xref="GeneID:123207" /db_xref="HGNC:HGNC:28443" ORIGIN 1 mlrlrsglrh lratpntrgs arllcaempk kagattkgks qskeperplp plgpvavdpk 61 gcvtiaihak pgskqnavtd ltaeavnvai aappsegean aelcrylskv lelrksdvvl 121 dkvglalfff flrqnlalsp klecsgvvla hcnlhllgss yspasas // LOCUS NP_001096070 584 aa linear PRI 08-JUL-2020 DEFINITION carcinoembryonic antigen-related cell adhesion molecule 20 isoform 5S precursor [Homo sapiens]. ACCESSION NP_001096070 VERSION NP_001096070.2 DBSOURCE REFSEQ: accession NM_001102600.3 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 584) AUTHORS Daniwijaya EW, Murata Y, Kotani T, Kitamura Y, Mantilidewi KI, Kusakari S, Ohnishi H, Okazawa H and Matozaki T. TITLE Tyrosine Phosphorylation of Carcinoembryonic Antigen-related Cell Adhesion Molecule 20 and Its Functional Role JOURNAL Kobe J Med Sci 59 (5), E172-E183 (2013) PUBMED 28659570 REMARK GeneRIF: tyrosine phosphorylation of CEACAM20 likely promotes phagocytic activity Publication Status: Online-Only REFERENCE 2 (residues 1 to 584) AUTHORS Zhang H, Eisenried A, Zimmermann W and Shively JE. TITLE Role of CEACAM1 and CEACAM20 in an in vitro model of prostate morphogenesis JOURNAL PLoS ONE 8 (1), e53359 (2013) PUBMED 23358633 REMARK GeneRIF: conclude that CEACAM20 and CEACAM1 not only mark the lumina of adult prostate tissue but also play a critical role in the vitro generation of prostate organoids REFERENCE 3 (residues 1 to 584) AUTHORS Zebhauser R, Kammerer R, Eisenried A, McLellan A, Moore T and Zimmermann W. TITLE Identification of a novel group of evolutionarily conserved members within the rapidly diverging murine Cea family JOURNAL Genomics 86 (5), 566-580 (2005) PUBMED 16139472 REFERENCE 4 (residues 1 to 584) 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 AC245748.2, EU008603.1, AY358129.1 and EU008600.1. On Feb 11, 2014 this sequence version replaced NP_001096070.1. Transcript Variant: This variant (5S) lacks an alternate in-frame exon in the 3' coding region, compared to variant 5L, resulting in an isoform (5S) that is shorter than isoform 5L. ##Evidence-Data-START## Transcript exon combination :: EU008603.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..584 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.31" Protein 1..584 /product="carcinoembryonic antigen-related cell adhesion molecule 20 isoform 5S precursor" /note="GPAD9366; carcinoembryonic antigen related cell adhesion molecule 20" /calculated_mol_wt=61245 sig_peptide 1..30 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3151 Region 69..156 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:299845" Region 70..143 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" Region 175..247 /region_name="Ig_2" /note="Immunoglobulin domain; pfam13895" /db_xref="CDD:290606" Region 175..247 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" Region 266..343 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:299845" Region 361..433 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" Region 369..435 /region_name="Ig_2" /note="Immunoglobulin domain; pfam13895" /db_xref="CDD:290606" Region 472..>528 /region_name="C_Hendra" /note="C protein from hendra and measles viruses; pfam16821" /db_xref="CDD:293426" CDS 1..584 /gene="CEACAM20" /gene_synonym="UNQ9366" /coded_by="NM_001102600.3:167..1921" /note="isoform 5S precursor is encoded by transcript variant 5S" /db_xref="CCDS:CCDS74392.1" /db_xref="GeneID:125931" /db_xref="HGNC:HGNC:24879" ORIGIN 1 mgpadswghh wmgillsasl ctvwsppaaa qltlnanpld atqsedvvlp vfgtprtpqi 61 hgrsrelakp siavspgtai eqkdmvtfyc ttkdvnitih wvsnnlsivf hermqlskdg 121 kiltilivqr edsgtyqcea rdallsqrsd pifldvkygp dpveiklesg vasgevvevm 181 egssmtflae tkshppcayt wflldsilsh ttrtftihav sreheglyrc lvsnsathls 241 slgtlkvrvl etltmpqvvp sslnlvenar svdltcqtvn qsvnvqwfls gqpllpsehl 301 qlsadnrtli ihglqrndtg pyacevwnwg srarseplel tinygpdqvh itresasemi 361 stieaelnss ltlqcwaesk pgaeyrwtle hstgehlgeq liiraltweh dgiynctasn 421 sltglarsts vlvkvvgpqs sslssgaiag ivigilavia vaselgyflc irnarrpsrk 481 ttedpshets qpipkeehpt epsseslspe yrnisqlqgr irveltklps asrrgnsfsp 541 wkpppkplmp plrlvstvpk nmesiyeelv npepntyiqi npsv // LOCUS NP_001338607 684 aa linear PRI 08-JUL-2020 DEFINITION zinc finger protein 560 isoform 2 [Homo sapiens]. ACCESSION NP_001338607 VERSION NP_001338607.1 DBSOURCE REFSEQ: accession NM_001351678.2 KEYWORDS RefSeq. SOURCE Homo 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 Zhu H, Wu TC, Chen WQ, Zhou LJ, Wu Y, Zeng L and Pei HP. TITLE Screening for differentially expressed genes between left- and right-sided colon carcinoma by microarray analysis JOURNAL Oncol Lett 6 (2), 353-358 (2013) PUBMED 24137329 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC008567.5, AK056548.1 and BC101039.2. Transcript Variant: This variant (2) uses an alternate splice junction in the 5' end and uses a downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: BC101039.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..684 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.2" Protein 1..684 /product="zinc finger protein 560 isoform 2" /calculated_mol_wt=78478 Region 4..55 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" 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 217..236 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region 238..648 /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" 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" Site order(272,275,288,292) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 300..320 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(300,303,316,320) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 328..348 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(328,331,344,348) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 384..404 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(384,387,400,404) /site_type="other" /note="Zn binding site [ion binding]" /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" Region 440..460 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(440,443,456,460) /site_type="other" /note="Zn binding site [ion binding]" /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" Site order(468,471,484,488) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 496..516 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(496,499,512,516) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 524..544 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(524,527,540,544) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 552..572 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(552,555,568,572) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 608..628 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(608,611,624,628) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(613,615,617,619..620,623..624,627,641,643,647..648, 651..652,655,669,671,673,675..676,679..680,683) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 636..656 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(636,639,652,656) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 651..673 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:316026" Region 664..684 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(664,667,680,684) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..684 /gene="ZNF560" /coded_by="NM_001351678.2:538..2592" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:147741" /db_xref="HGNC:HGNC:26484" ORIGIN 1 mdlvtfdsva veftqeewtl ldpaqrnlys dvmlenyknl ssvgyqlfkp sliswleeee 61 elstlprvlq ewkmclktkg palwqdnfcl ktlngiqlar nqngeelydc kqcedvfckh 121 pclktnmstq nrgntseciq yakdllslyn ktstirkvsv fskhgksfrl ilnvqvqrkc 181 tqdksfegtd ygkafiyqsy leahrktqsg eklnewkqcg eafthstsha vnvethiikn 241 pyeckecgkd frypthlnnh mqthigikpy kckhcgktft vpsgflehvr thtgekpygc 301 kecgkafgts agliehirch arektfkcdh cgkafisyps lfghlrvhng ekpyehkeyg 361 kafgtssgvi edrrsntgqk rfdcdqcgkv fvsfsslfah lrthtgekpf kcykcgkpft 421 ssaclrihmr thteerlyqc kkcgkaftkc syltkhlrth agekpyecmk cgkaftersy 481 ltkhlrrhsg ekpyeckkcg kaftersdlt khlrrhtgdk pyeykdcgka fvvssslvdh 541 lrthtgykpy kcnacekays rscvltqhlk thaaektsec nacgnsfrns mcfhdrlktl 601 tkikpykckd cgkaftchsd ltnhvrihtg ekpykckecg kafrtssgri qhlrthmgek 661 pfecdqcgka fasfsariah lkth // LOCUS NP_001248348 296 aa linear PRI 08-JUL-2020 DEFINITION interleukin-1 receptor type 2 isoform 2 precursor [Homo sapiens]. ACCESSION NP_001248348 VERSION NP_001248348.1 DBSOURCE REFSEQ: accession NM_001261419.2 KEYWORDS RefSeq. SOURCE Homo 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 Xiong Z, Sun Y, Wu J, Niu F, Jin T and Li B. TITLE Genetic polymorphisms in IL1R1 and IL1R2 are associated with susceptibility to thyroid cancer in the Chinese Han population JOURNAL J Gene Med 21 (6), e3093 (2019) PUBMED 31021479 REMARK GeneRIF: our data suggest that rs3917225 in IL1R1 , rs2072472 and rs11674595 in IL1R2 were potential risk markers associated with thyroid cancer risk in the Chinese Han population. Our findings provided new insights into the roles of IL1R1 and IL1R2 and the etiology of thyroid carcinoma. REFERENCE 2 (residues 1 to 296) AUTHORS Wu J, Zhang W, Cai J, Huang S, Niu F, Zhang Y, Bao S and Jin T. TITLE Influence of IL-1R2 polymorphisms on endometrial cancer susceptibility in the Chinese Han population JOURNAL Mol Genet Genomic Med 7 (5), e650 (2019) PUBMED 30895748 REMARK GeneRIF: Two SNPs (rs4851527 and rs3218896) and haplotypes TGTC and TACT were significantly associated with endometrial cancer risk in Chinese population. REFERENCE 3 (residues 1 to 296) AUTHORS Wang C, Zhang C, Xu J, Li Y, Wang J, Liu H, Liu Y, Chen Z and Lin H. TITLE Association between IL-1R2 polymorphisms and lung cancer risk in the Chinese Han population: A case-control study JOURNAL Mol Genet Genomic Med 7 (5), e644 (2019) PUBMED 30895747 REMARK GeneRIF: rs3218977-GG was associated with a decreased risk of lung cancer in Chinese population. rs2072472 had a significant risk-increasing effect in the dominant model. REFERENCE 4 (residues 1 to 296) AUTHORS Jin T, Zhu L, Bai M, He X, Wang L, Yuan D, Li S and He Y. TITLE Association between the IL1R2 rs2072472 polymorphism and high-altitude pulmonary edema risk JOURNAL Mol Genet Genomic Med 7 (3), e542 (2019) PUBMED 30672138 REMARK GeneRIF: rs2072472 was significantly associated with a 0.73-fold decreased risk of high-altitude pulmonary edema. REFERENCE 5 (residues 1 to 296) AUTHORS An F, Wang J, Gao H, Liu C, Tian Y, Jin T, Liu W and Wang J. TITLE Impact of IL1R1 and IL1R2 gene polymorphisms on risk of osteonecrosis of the femoral head from a case-control study JOURNAL Mol Genet Genomic Med 7 (3), e00557 (2019) PUBMED 30623603 REMARK GeneRIF: rs11674595 was significantly associated with the risk of femur head osteonecrosis in the Chinese Han population. REFERENCE 6 (residues 1 to 296) AUTHORS Sadouk MB, Pelletier JP, Tardif G, Kiansa K, Cloutier JM and Martel-Pelletier J. TITLE Human synovial fibroblasts coexpress IL-1 receptor type I and type II mRNA. The increased level of the IL-1 receptor in osteoarthritic cells is related to an increased level of the type I receptor JOURNAL Lab. Invest. 73 (3), 347-355 (1995) PUBMED 7564267 REFERENCE 7 (residues 1 to 296) AUTHORS Fasano MB, Cousart S, Neal S and McCall CE. TITLE Increased expression of the interleukin 1 receptor on blood neutrophils of humans with the sepsis syndrome JOURNAL J. Clin. Invest. 88 (5), 1452-1459 (1991) PUBMED 1834697 REFERENCE 8 (residues 1 to 296) AUTHORS Dripps DJ, Verderber E, Ng RK, Thompson RC and Eisenberg SP. TITLE Interleukin-1 receptor antagonist binds to the type II interleukin-1 receptor on B cells and neutrophils JOURNAL J. Biol. Chem. 266 (30), 20311-20315 (1991) PUBMED 1834644 REFERENCE 9 (residues 1 to 296) 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 10 (residues 1 to 296) AUTHORS Granowitz EV, Clark BD, Mancilla J and Dinarello CA. TITLE Interleukin-1 receptor antagonist competitively inhibits the binding of interleukin-1 to the type II interleukin-1 receptor JOURNAL J. Biol. Chem. 266 (22), 14147-14150 (1991) PUBMED 1830582 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC005035.2, U64094.1 and AC007165.4. Summary: The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Alternative splicing results in multiple transcript variants and protein isoforms. Alternative splicing produces both membrane-bound and soluble proteins. A soluble protein is also produced by proteolytic cleavage. [provided by RefSeq, May 2012]. Transcript Variant: This variant (3) lacks multiple 3' exons and has an alternate 3' splice site which introduces an immediate stop codon, compared to variant 1. The encoded protein (isoform 2) has a shorter 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 :: U64094.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..296 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q11.2" Protein 1..296 /product="interleukin-1 receptor type 2 isoform 2 precursor" /note="type II interleukin-1 receptor, beta; antigen CDw121b; IL-1R-beta; interleukin-1 receptor beta; interleukin-1 receptor type II; CD121 antigen-like family member B; IL-1 type II receptor; interleukin 1 receptor type II variant 3" /calculated_mol_wt=32188 sig_peptide 1..13 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1452 mat_peptide 14..296 /product="interleukin-1 receptor type 2 isoform 2" /calculated_mol_wt=32188 Region 27..228 /region_name="PHA02826" /note="IL-1 receptor-like protein; Provisional" /db_xref="CDD:165173" Region 30..125 /region_name="Ig1_IL1R_like" /note="First immunoglobulin (Ig)-like domain of interleukin-1 receptor (IL1R) and similar proteins; cd05756" /db_xref="CDD:143233" Site order(32,34..39) /site_type="other" /note="antagonist binding site" /db_xref="CDD:143233" Region 136..230 /region_name="Ig2_IL1R2_like" /note="Second immunoglobulin (Ig)-like domain of interleukin-1 receptor-2 (IL1R2); cd05897" /db_xref="CDD:143305" Site order(149,154,156,191) /site_type="other" /note="putative antagonist binding site" /db_xref="CDD:143305" Region 241..>285 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:299845" CDS 1..296 /gene="IL1R2" /gene_synonym="CD121b; CDw121b; IL-1R-2; IL-1RT-2; IL-1RT2; IL1R2c; IL1RB" /coded_by="NM_001261419.2:114..1004" /note="isoform 2 precursor is encoded by transcript variant 3" /db_xref="CCDS:CCDS58719.1" /db_xref="GeneID:7850" /db_xref="HGNC:HGNC:5994" /db_xref="MIM:147811" ORIGIN 1 mlrlyvlvmg vsaftlqpaa htgaarscrf rgrhykrefr legepvalrc pqvpywlwas 61 vsprinltwh kndsartvpg eeetrmwaqd galwllpalq edsgtyvctt rnasycdkms 121 ielrvfentd aflpfisypq iltlstsgvl vcpdlseftr dktdvkiqwy kdsllldkdn 181 ekflsvrgtt hllvhdvale dagyyrcvlt fahegqqyni trsielrikk kkeetipvii 241 splktisasl gsrltipckv flgtgtpltt mlwwtandth iesaypggrv tegprq // LOCUS NP_945146 483 aa linear PRI 08-JUL-2020 DEFINITION pyrin and HIN domain-containing protein 1 isoform alpha 2 [Homo sapiens]. ACCESSION NP_945146 VERSION NP_945146.1 DBSOURCE REFSEQ: accession NM_198928.5 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 483) 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 2 (residues 1 to 483) 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 3 (residues 1 to 483) 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 4 (residues 1 to 483) 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 5 (residues 1 to 483) 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 6 (residues 1 to 483) 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, AY185345.1, BC073133.1 and AW518129.1. 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 (2) uses an alternate, in-frame acceptor splice site at an internal coding exon compared to variant 1. This results in a shorter isoform (alpha 2) missing a 9 aa protein segment compared to isoform alpha 1. ##Evidence-Data-START## Transcript exon combination :: AY185345.1, BC139741.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..483 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q23.1" Protein 1..483 /product="pyrin and HIN domain-containing protein 1 isoform alpha 2" /note="interferon-inducible protein X; pyrin and HIN domain-containing protein 1" /calculated_mol_wt=53982 Region 10..83 /region_name="Pyrin" /note="Pyrin: a protein-protein interaction domain; cd08305" /db_xref="CDD:260019" Region <124..195 /region_name="DUF3583" /note="Protein of unknown function (DUF3583); pfam12126" /db_xref="CDD:314922" Region 203..370 /region_name="HIN" /note="HIN-200/IF120x domain; pfam02760" /db_xref="CDD:308413" CDS 1..483 /gene="PYHIN1" /gene_synonym="IFIX" /coded_by="NM_198928.5:246..1697" /note="isoform alpha 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS1179.1" /db_xref="GeneID:149628" /db_xref="HGNC:HGNC:28894" /db_xref="MIM:612677" ORIGIN 1 mannykkivl lkglevindy hfrivkslls ndlklnpkmk eeydkiqiad lmeekfpgda 61 glgklieffk eiptlgdlae tlkreklkvk giipskktkq kevypatpac tpsnrltakg 121 aeetlgpqkr kkpseeetgt krskmskeqt rpscsagast stamgrsppp qtsssappnt 181 ssteslkpla nrhataskni fredpiiamv lnatkvfkye sseneqrrmf hatvatqtqf 241 fhvkvlninl krkfikkrii iisnyskrns llevneassv seagpdqtfe vpkdiirrak 301 kipkinilhk qtsgyivygl fmlhtkivnr kttiyeiqdk tgsmavvgkg echnipcekg 361 dklrlfcfrl rkrenmsklm semhsfiqiq kntnqrshds rsmalpqeqs qhpkpseast 421 tlpeshlktp qmppttpsss sftkkdethp gaqsspanfr itsptvappl ssdtstnrhp 481 avp // LOCUS NP_115268 814 aa linear PRI 08-JUL-2020 DEFINITION protocadherin gamma-B3 isoform 2 precursor [Homo sapiens]. ACCESSION NP_115268 VERSION NP_115268.2 DBSOURCE REFSEQ: accession NM_032097.3 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 Nicoludis JM, Vogt BE, Green AG, Scharfe CP, Marks DS and Gaudet R. TITLE Antiparallel protocadherin homodimers use distinct affinity- and specificity-mediating regions in cadherin repeats 1-4 JOURNAL Elife 5, e18449 (2016) PUBMED 27472898 REMARK GeneRIF: The extracellular EC1/EC4 interface comprises hydrophobic interactions that provide non-selective dimerization affinity. Publication Status: Online-Only REFERENCE 2 (residues 1 to 814) 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 814) 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 814) 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 814) 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 814) 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 KC877131.1, BC150172.1 and AF152519.1. On Dec 19, 2014 this sequence version replaced NP_115268.1. 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) lacks the constant region exons and contains an alternate 3' coding region compared to variant 1. The encoded isoform (2) has a shorter, distinct C-terminus than isoform 1. ##Evidence-Data-START## Transcript is intronless :: AF152519.1 [ECO:0000345] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..814 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q31.3" Protein 1..814 /product="protocadherin gamma-B3 isoform 2 precursor" /note="protocadherin gamma-B3" /calculated_mol_wt=86037 sig_peptide 1..30 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3323 Region 32..112 /region_name="Cadherin_2" /note="Cadherin-like; pfam08266" /db_xref="CDD:285466" Site order(39..40,91,93,125,127..128) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206635" Site 136 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9Y5G1.4)" Region 139..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 247..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 (Q9Y5G1.4)" 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 (Q9Y5G1.4)" Region 578..662 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Region 687..768 /region_name="Cadherin_C_2" /note="Cadherin cytoplasmic C-terminal; pfam16492" /db_xref="CDD:293101" Site 692..712 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y5G1.4)" CDS 1..814 /gene="PCDHGB3" /gene_synonym="PCDH-GAMMA-B3" /coded_by="NM_032097.3:154..2598" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS75334.1" /db_xref="GeneID:56102" /db_xref="HGNC:HGNC:8710" /db_xref="MIM:606301" ORIGIN 1 mgnssgwrgp agqrrmlflf llslldqals epiryaipee ldrgslvgnl akdlgfgvgd 61 lptrnlrvia ekkfftvspe ngnllvsdri dreeicgkks tcvlefemva ekplnffhvt 121 vliqdindnp ptfsqnitel eiselaltga tfalesaqdp dvgvnslqqy ylspdphfsl 181 iqkenldgsr ypelvlkapl dreeqphhhl vltavdggep srscttqirv ivadandnpp 241 vftqdmyrvn vaenlpagss vlkvmaidmd eginaeiiya finigkevrq lfkldsktge 301 lttigeldfe erdsytigve akdgghhtay ckvqidisde ndnapeitla sesqhiqeda 361 elgtavalik thdldsgfng eilcqlkgnf pfkivqdtkn tyrlvtdgal dreqipeynv 421 titatdkgnp plsssktitl hildvndnvp vfhqasytvh vaennppgas iahvrasdpd 481 lgpnglvsyy ivasdlepre lssyvsvsar sgvvfaqraf dheqlrafel tlqardqgsp 541 tlsanvslrv lvddrndnap lvlypalgpe gsalfdmvpr saepgylvtk vvavdadsgy 601 nawlsyhivq asepglfslg lrtgevrtar tlgdreaarq rllvtvrdgg qqplsatvml 661 hlifadslqe iqpdlsdrpt psdpqaelqf hlvvalalis vlfllavila islrlrcssr 721 pategyfqpg vcfktvpgvl ptysertlpy synpcaashs sntefkflni kaenaapqdl 781 lcdeaswfes ndnpempsns gnlqkvsffk pflp // LOCUS NP_001292092 576 aa linear PRI 09-JUL-2020 DEFINITION RING finger and SPRY domain-containing protein 1 isoform 1 precursor [Homo sapiens]. ACCESSION NP_001292092 XP_005256278 VERSION NP_001292092.1 DBSOURCE REFSEQ: accession NM_001305163.2 KEYWORDS RefSeq. SOURCE Homo 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 Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K and Alikasifoglu M. TITLE Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis JOURNAL Am. J. Med. Genet. A 176 (9), 2009-2016 (2018) PUBMED 30063090 REMARK GeneRIF: we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and craniosynostosis along with recognizable facial features and intellectual disability. REFERENCE 2 (residues 1 to 576) AUTHORS Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I, Maas RL, Boycott K and Alkuraya FS. CONSRTM Care4Rare Canada Consortium TITLE Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations JOURNAL Am. J. Hum. Genet. 97 (4), 608-615 (2015) PUBMED 26365341 REMARK GeneRIF: RSPRY1 Mutations are associated with Progressive Skeletal Dysplasia. REFERENCE 3 (residues 1 to 576) 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 BC013173.2, AC009090.12 and AL834402.1. On Mar 22, 2015 this sequence version replaced XP_005256278.1. Summary: This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 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 :: SRR1660809.187930.1, AK027549.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..576 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16q13" Protein 1..576 /product="RING finger and SPRY domain-containing protein 1 isoform 1 precursor" /note="RING finger and SPRY domain-containing protein 1" /calculated_mol_wt=62444 sig_peptide 1..16 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1754 mat_peptide 17..576 /product="RING finger and SPRY domain-containing protein 1. /id=PRO_0000278786" /note="propagated from UniProtKB/Swiss-Prot (Q96DX4.1)" /calculated_mol_wt=62444 Site 50 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q8BVR6; propagated from UniProtKB/Swiss-Prot (Q96DX4.1)" Site 314 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96DX4.1)" Region 359..479 /region_name="SPRY_RING" /note="SPRY domain at N-terminus of Really Interesting New Gene (RING) finger domain; cd12883" /db_xref="CDD:293941" Region 525..565 /region_name="RING-HC_RSPRY1" /note="RING finger, HC subclass, found in RING finger and SPRY domain-containing protein 1 (RSPRY1) and similar proteins; cd16566" /db_xref="CDD:319480" Region 527..561 /region_name="RING-HC finger (C3HC4-type)" /note="RING-HC finger (C3HC4-type) [structural motif]" /db_xref="CDD:319480" Site order(527,530,542,544,548,551,558,561) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:319480" CDS 1..576 /gene="RSPRY1" /gene_synonym="SEMDFA" /coded_by="NM_001305163.2:878..2608" /note="isoform 1 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS10775.1" /db_xref="GeneID:89970" /db_xref="HGNC:HGNC:29420" /db_xref="MIM:616585" ORIGIN 1 mivfgwavfl asrslgqgll ltleehiahf lgtggaattm gnscicrdds gtddsvdtqq 61 qqaensavpt adtrsqprdp vrpprrgrgp heprrkkqnv dglvldtlav irtlvdndqe 121 ppysmitlhe maetdegwld vvqslirvip ledplgpavi tllldecplp tkdalqklte 181 ilnlngevac qdsshpakhr ntsavlgcla eklagpasig llspgileyl lqclklqshp 241 tvmlfalial ekfaqtsenk ltisessisd rlvtleswan dpdylkrqvg fcaqwsldnl 301 flkegrqlty ekvnlssira mlnsndvsey lkisphglea rcdassfesv rctfcvdagv 361 wyyevtvvts gvmqigwatr dskflnhegy gigddeysca ydgcrqliwy narskphihp 421 cwkegdtvgf lldlnekqmi fflngnqlpp ekqvfsstvs gffaaasfms yqqcefnfga 481 kpfkyppsmk fstfndyafl taeekiilpr hrrlallkqv sirenccslc cdevadtqlk 541 pcghsdlcmd calqletcpl crkeivsrir qishis // LOCUS NP_001096068 491 aa linear PRI 09-JUL-2020 DEFINITION carcinoembryonic antigen-related cell adhesion molecule 20 isoform 4S precursor [Homo sapiens]. ACCESSION NP_001096068 XP_001134441 XP_001134461 VERSION NP_001096068.2 DBSOURCE REFSEQ: accession NM_001102598.3 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 491) AUTHORS Daniwijaya EW, Murata Y, Kotani T, Kitamura Y, Mantilidewi KI, Kusakari S, Ohnishi H, Okazawa H and Matozaki T. TITLE Tyrosine Phosphorylation of Carcinoembryonic Antigen-related Cell Adhesion Molecule 20 and Its Functional Role JOURNAL Kobe J Med Sci 59 (5), E172-E183 (2013) PUBMED 28659570 REMARK GeneRIF: tyrosine phosphorylation of CEACAM20 likely promotes phagocytic activity Publication Status: Online-Only REFERENCE 2 (residues 1 to 491) AUTHORS Zhang H, Eisenried A, Zimmermann W and Shively JE. TITLE Role of CEACAM1 and CEACAM20 in an in vitro model of prostate morphogenesis JOURNAL PLoS ONE 8 (1), e53359 (2013) PUBMED 23358633 REMARK GeneRIF: conclude that CEACAM20 and CEACAM1 not only mark the lumina of adult prostate tissue but also play a critical role in the vitro generation of prostate organoids REFERENCE 3 (residues 1 to 491) AUTHORS Zebhauser R, Kammerer R, Eisenried A, McLellan A, Moore T and Zimmermann W. TITLE Identification of a novel group of evolutionarily conserved members within the rapidly diverging murine Cea family JOURNAL Genomics 86 (5), 566-580 (2005) PUBMED 16139472 REFERENCE 4 (residues 1 to 491) 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 AC245748.2, EU008601.1, AY358129.1 and EU008600.1. On Feb 11, 2014 this sequence version replaced NP_001096068.1. Transcript Variant: This variant (4S) lacks an alternate in-frame exon in both the central and 3' coding regions, compared to variant 5L, resulting in an isoform (4S) that is shorter than isoform 5L. ##Evidence-Data-START## Transcript exon combination :: EU008601.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..491 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.31" Protein 1..491 /product="carcinoembryonic antigen-related cell adhesion molecule 20 isoform 4S precursor" /note="GPAD9366; carcinoembryonic antigen related cell adhesion molecule 20" /calculated_mol_wt=51019 sig_peptide 1..30 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3151 Region 69..156 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:299845" Region 70..143 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" Site 96 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Site 105 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Region 175..247 /region_name="Ig_2" /note="Immunoglobulin domain; pfam13895" /db_xref="CDD:290606" Region 175..247 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" Region 266..343 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:299845" Site 280 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Site 306 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Site 317 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6UY09.2)" Region 379..>435 /region_name="C_Hendra" /note="C protein from hendra and measles viruses; pfam16821" /db_xref="CDD:293426" CDS 1..491 /gene="CEACAM20" /gene_synonym="UNQ9366" /coded_by="NM_001102598.3:167..1642" /note="isoform 4S precursor is encoded by transcript variant 4S" /db_xref="CCDS:CCDS74390.1" /db_xref="GeneID:125931" /db_xref="HGNC:HGNC:24879" ORIGIN 1 mgpadswghh wmgillsasl ctvwsppaaa qltlnanpld atqsedvvlp vfgtprtpqi 61 hgrsrelakp siavspgtai eqkdmvtfyc ttkdvnitih wvsnnlsivf hermqlskdg 121 kiltilivqr edsgtyqcea rdallsqrsd pifldvkygp dpveiklesg vasgevvevm 181 egssmtflae tkshppcayt wflldsilsh ttrtftihav sreheglyrc lvsnsathls 241 slgtlkvrvl etltmpqvvp sslnlvenar svdltcqtvn qsvnvqwfls gqpllpsehl 301 qlsadnrtli ihglqrndtg pyacevwnwg srarseplel tincpqsssl ssgaiagivi 361 gilaviavas elgyflcirn arrpsrktte dpshetsqpi pkeehpteps seslspeyrn 421 isqlqgrirv eltklpsasr rgnsfspwkp ppkplmpplr lvstvpknme siyeelvnpe 481 pntyiqinps v // LOCUS NP_001338940 324 aa linear PRI 09-JUL-2020 DEFINITION solute carrier family 35 member F4 isoform c [Homo sapiens]. ACCESSION NP_001338940 VERSION NP_001338940.1 DBSOURCE REFSEQ: accession NM_001352011.2 KEYWORDS RefSeq. SOURCE Homo 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 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 AL049838.3, AL136520.3 and AL161804.4. 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 :: SRR1803615.184124.1, SRR1803617.494790.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03465402, SAMN03465403 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..324 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="14" /map="14q22.3-q23.1" Protein 1..324 /product="solute carrier family 35 member F4 isoform c" /calculated_mol_wt=35691 Region <238..>287 /region_name="SLC35F" /note="Solute carrier family 35; pfam06027" /db_xref="CDD:283644" CDS 1..324 /gene="SLC35F4" /gene_synonym="C14orf36; c14_5373" /coded_by="NM_001352011.2:268..1242" /note="isoform c is encoded by transcript variant 3" /db_xref="GeneID:341880" /db_xref="HGNC:HGNC:19845" ORIGIN 1 mdvkaapngv atiedrilri tgyygyypgy ssqkstsrss vtrckpganc psshsgisrq 61 lsplsvteds sapilelqnq gssgvcghrv erqnrsaddg tqthsenssq enrikarcls 121 ctsmvlkgiw glliilsvss swvgttqivk ityknfycpf fmtwfstnwn imffpvyysg 181 hlataqekqs pmkkfrecsr ifgedgltlk lflkrtapfs ilwtltnyly llalkkltat 241 dvsalfccnk afvfllswiv lkdrfmgvri vaaimaitgi vmmayadnfh adsiigvafa 301 vgsastsaly kvccalsfvs nchs // LOCUS NP_001339523 699 aa linear PRI 09-JUL-2020 DEFINITION neural cell adhesion molecule 2 isoform 5 precursor [Homo sapiens]. ACCESSION NP_001339523 VERSION NP_001339523.1 DBSOURCE REFSEQ: accession NM_001352594.2 KEYWORDS RefSeq. SOURCE Homo 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 Rasmussen KK, Falkesgaard MH, Winther M, Roed NK, Quistgaard CL, Teisen MN, Edslev SM, Petersen DL, Aljubouri A, Christensen C, Thulstrup PW, Lo Leggio L, Teilum K and Walmod PS. TITLE NCAM2 Fibronectin type-III domains form a rigid structure that binds and activates the Fibroblast Growth Factor Receptor JOURNAL Sci Rep 8 (1), 8957 (2018) PUBMED 29895898 REMARK GeneRIF: These results reveal that the NCAM2 FnIII domains form a rigid structure that binds and activates FGFR in a manner related to, but different from NCAM1. Publication Status: Online-Only REFERENCE 2 (residues 1 to 699) AUTHORS Scholz C, Steinemann D, Malzer M, Roy M, Arslan-Kirchner M, Illig T, Schmidtke J and Stuhrmann M. TITLE NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition? JOURNAL Eur J Med Genet 59 (10), 493-498 (2016) PUBMED 27596683 REMARK GeneRIF: Our reported case raises the questions whether the NCAM2-deletion is the true cause of the autism spectrum disorder or only a risk factor and whether there might be any connection in NCAM2 with skull-size REFERENCE 3 (residues 1 to 699) AUTHORS Leshchyns'ka I, Liew HT, Shepherd C, Halliday GM, Stevens CH, Ke YD, Ittner LM and Sytnyk V. TITLE Abeta-dependent reduction of NCAM2-mediated synaptic adhesion contributes to synapse loss in Alzheimer's disease JOURNAL Nat Commun 6, 8836 (2015) PUBMED 26611261 REMARK GeneRIF: Abeta-dependent disruption of NCAM2 functions in Alzheimer's disease hippocampus contributes to synapse loss. Publication Status: Online-Only REFERENCE 4 (residues 1 to 699) AUTHORS Petit F, Plessis G, Decamp M, Cuisset JM, Blyth M, Pendlebury M and Andrieux J. TITLE 21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders JOURNAL Eur J Med Genet 58 (1), 44-46 (2015) PUBMED 25464110 REFERENCE 5 (residues 1 to 699) AUTHORS Winther M, Berezin V and Walmod PS. TITLE NCAM2/OCAM/RNCAM: cell adhesion molecule with a role in neuronal compartmentalization JOURNAL Int. J. Biochem. Cell Biol. 44 (3), 441-446 (2012) PUBMED 22155300 REMARK Review article REFERENCE 6 (residues 1 to 699) AUTHORS Rasmussen KK, Kulahin N, Kristensen O, Poulsen JC, Sigurskjold BW, Kastrup JS, Berezin V, Bock E, Walmod PS and Gajhede M. TITLE Crystal structure of the Ig1 domain of the neural cell adhesion molecule NCAM2 displays domain swapping JOURNAL J. Mol. Biol. 382 (5), 1113-1120 (2008) PUBMED 18706912 REMARK GeneRIF: In the crystal structure, two Ig domains interact by domain swapping, as the two N-terminal beta-strands are interchanged. REFERENCE 7 (residues 1 to 699) AUTHORS Schmitt-Ulms G, Hansen K, Liu J, Cowdrey C, Yang J, DeArmond SJ, Cohen FE, Prusiner SB and Baldwin MA. TITLE Time-controlled transcardiac perfusion cross-linking for the study of protein interactions in complex tissues JOURNAL Nat. Biotechnol. 22 (6), 724-731 (2004) PUBMED 15146195 REFERENCE 8 (residues 1 to 699) 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 9 (residues 1 to 699) AUTHORS Alenius M and Bohm S. TITLE Differential function of RNCAM isoforms in precise target selection of olfactory sensory neurons JOURNAL Development 130 (5), 917-927 (2003) PUBMED 12538518 REFERENCE 10 (residues 1 to 699) AUTHORS Paoloni-Giacobino A, Chen H and Antonarakis SE. TITLE Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome JOURNAL Genomics 43 (1), 43-51 (1997) PUBMED 9226371 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AP001138.3, AP001252.2 and AP001137.2. Summary: The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. [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 :: SRR1803614.116429.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145544, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..699 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21q21.1" Protein 1..699 /product="neural cell adhesion molecule 2 isoform 5 precursor" /note="NCAM-2; N-CAM-2" /calculated_mol_wt=76076 sig_peptide 1..19 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2012 Region 21..112 /region_name="Ig1_NCAM-2" /note="First immunoglobulin (Ig)-like domain of neural cell adhesion molecule NCAM-2; cd05866" /db_xref="CDD:143274" Site order(36,38..39) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:143274" Region 122..187 /region_name="Ig_3" /note="Immunoglobulin domain; pfam13927" /db_xref="CDD:316449" Site 177 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O15394.2)" Region 208..301 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:325142" Site 219 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O15394.2)" Region 300..397 /region_name="Ig_NCAM-2" /note="Immunoglobulin (Ig)-like domain of Neural Cell Adhesion Molecule NCAM-2 (also known as OCAM/mamFas II and RNCAM); cd05870" /db_xref="CDD:143278" Site 309 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O15394.2)" Region 401..479 /region_name="Ig_3" /note="Immunoglobulin domain; pfam13927" /db_xref="CDD:316449" Site 406 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O15394.2)" Site 419 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O15394.2)" Site 445 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:12754519; propagated from UniProtKB/Swiss-Prot (O15394.2)" Site 474 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O15394.2)" Region 496..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(496,561,576) /site_type="other" /note="Interdomain contacts" /db_xref="CDD:238020" Site 562 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:12754519; propagated from UniProtKB/Swiss-Prot (O15394.2)" Site order(577..578,580..581) /site_type="other" /note="Cytokine receptor motif" /db_xref="CDD:238020" Region 594..678 /region_name="fn3" /note="Fibronectin type III domain; pfam00041" /db_xref="CDD:306538" Site order(594,658,673) /site_type="other" /note="Interdomain contacts" /db_xref="CDD:238020" Site order(674..675,677..678) /site_type="other" /note="Cytokine receptor motif" /db_xref="CDD:238020" CDS 1..699 /gene="NCAM2" /gene_synonym="NCAM21" /coded_by="NM_001352594.2:156..2255" /note="isoform 5 precursor is encoded by transcript variant 5" /db_xref="GeneID:4685" /db_xref="HGNC:HGNC:7657" /db_xref="MIM:602040" ORIGIN 1 mslllsfyll gllvssgqal lqvtislskv elsvgeskff tctaigepes idwynpqgek 61 iistqrvvvq kegvrsrlti ynaniedagi yrcqatdakg qtqeatvvle iyqkltfrev 121 vspqefkqge daevvcrvss spapavswly hneevttisd nrfamlannn lqilninksd 181 egiyrcegrv eargeidfrd iivivnvppa ismpqksfna taergeemtf scrasgspep 241 aiswfrngkl ieenekyilk gsnteltvrn iinsdggpyv cratnkaged ekqaflqvfv 301 qphiiqlkne ttyengqvtl vcdaegepip eitwkravdg ftftegdksl dgrievkgqh 361 gssslhikdv klsdsgrydc eaasrigghq ksmyldieya pkfisnqtiy yswegnpini 421 scdvksnppa sihwrrdklv lpaknttnlk tystgrkmil eiaptsdndf grynctatnh 481 igtrfqeyil aladvpsspy gvkiielsqt takvsfnkpd shggvpihhy qvdvkevase 541 iwkivrshgv qtmvvlnnle pnttyeirva avngkgqgdy skieifqtlp vrepsppsih 601 gqpssgksfk lsitkqddgg apileyivky rskdkedqwl ekkvqgnkdh iilehlqwtm 661 gyevqitaan rlgyseptvy efsmppkpni ikvgvveke // LOCUS NP_001352104 208 aa linear PRI 09-JUL-2020 DEFINITION testis-expressed protein 52 isoform 2 [Homo sapiens]. ACCESSION NP_001352104 XP_011519345 VERSION NP_001352104.1 DBSOURCE REFSEQ: accession NM_001365175.2 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 AC005841.3. On Aug 3, 2018 this sequence version replaced XP_011519345.1. 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 :: HY032299.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..208 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12p13.33" Protein 1..208 /product="testis-expressed protein 52 isoform 2" /note="testis-expressed protein 52" /calculated_mol_wt=24122 Region 25..>208 /region_name="DUF4532" /note="Protein of unknown function (DUF4532); pfam15046" /db_xref="CDD:317462" CDS 1..208 /gene="TEX52" /coded_by="NM_001365175.2:14..640" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:101929469" /db_xref="HGNC:HGNC:53643" ORIGIN 1 masnrqrslr gpshpshmee pflqmvqase slppsqtwaq refflpsesw efpgftrqay 61 hqlalklppc tdmkskvrqr lihpwkggaq htwgfhtwld vcrlpatfpt qpdrpydsnv 121 wrwltdsnah rcpptehpip ppswmgqnsf ltfihcyptf vdmkrkkqvi frtvkelkev 181 eklklrsear appldaqgni qppasfkk // LOCUS NP_001309429 1235 aa linear PRI 09-JUL-2020 DEFINITION serine/threonine-protein kinase ULK4 isoform 2 [Homo sapiens]. ACCESSION NP_001309429 XP_011532177 VERSION NP_001309429.1 DBSOURCE REFSEQ: accession NM_001322500.2 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 1235) AUTHORS Guo DC, Grove ML, Prakash SK, Eriksson P, Hostetler EM, LeMaire SA, Body SC, Shalhub S, Estrera AL, Safi HJ, Regalado ES, Zhou W, Mathis MR, Eagle KA, Yang B, Willer CJ, Boerwinkle E and Milewicz DM. CONSRTM GenTAC Investigators; BAVCon Investigators TITLE Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections JOURNAL Am. J. Hum. Genet. 99 (3), 762-769 (2016) PUBMED 27569546 REMARK GeneRIF: results indicate that genetic variations in LRP1 and ULK4 contribute to risk for presenting with an acute aortic dissection REFERENCE 2 (residues 1 to 1235) AUTHORS Liu M, Guan Z, Shen Q, Flinter F, Dominguez L, Ahn JW, Collier DA, O'Brien T and Shen S. TITLE Ulk4 Regulates Neural Stem Cell Pool JOURNAL Stem Cells 34 (9), 2318-2331 (2016) PUBMED 27300315 REFERENCE 3 (residues 1 to 1235) AUTHORS Varghese RT, Liang Y, Guan T, Franck CT, Kelly DF and Sheng Z. TITLE Survival kinase genes present prognostic significance in glioblastoma JOURNAL Oncotarget 7 (15), 20140-20151 (2016) PUBMED 26956052 REFERENCE 4 (residues 1 to 1235) AUTHORS Lebovitz CB, Robertson AG, Goya R, Jones SJ, Morin RD, Marra MA and Gorski SM. TITLE Cross-cancer profiling of molecular alterations within the human autophagy interaction network JOURNAL Autophagy 11 (9), 1668-1687 (2015) PUBMED 26208877 REFERENCE 5 (residues 1 to 1235) AUTHORS Shen X, Espin-Garcia O, Qiu X, Brhane Y, Liu G and Xu W. TITLE Haplotype approach for association analysis on hypertension JOURNAL BMC Proc 8 (Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo), S57 (2014) PUBMED 25519392 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 1235) 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 1235) AUTHORS Hong KW, Jin HS, Lim JE, Kim S, Go MJ and Oh B. TITLE Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population JOURNAL J. Hum. Genet. 55 (6), 336-341 (2010) PUBMED 20414254 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 8 (residues 1 to 1235) AUTHORS Levy D, Ehret GB, Rice K, Verwoert GC, Launer LJ, Dehghan A, Glazer NL, Morrison AC, Johnson AD, Aspelund T, Aulchenko Y, Lumley T, Kottgen A, Vasan RS, Rivadeneira F, Eiriksdottir G, Guo X, Arking DE, Mitchell GF, Mattace-Raso FU, Smith AV, Taylor K, Scharpf RB, Hwang SJ, Sijbrands EJ, Bis J, Harris TB, Ganesh SK, O'Donnell CJ, Hofman A, Rotter JI, Coresh J, Benjamin EJ, Uitterlinden AG, Heiss G, Fox CS, Witteman JC, Boerwinkle E, Wang TJ, Gudnason V, Larson MG, Chakravarti A, Psaty BM and van Duijn CM. TITLE Genome-wide association study of blood pressure and hypertension JOURNAL Nat. Genet. 41 (6), 677-687 (2009) PUBMED 19430479 REMARK GeneRIF: Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 9 (residues 1 to 1235) 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: First identified as an ULK family kinase and predicted to be catalytically inactive. Review article REFERENCE 10 (residues 1 to 1235) AUTHORS Riley B, Williamson M, Collier D, Wilkie H and Makoff A. TITLE A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14 JOURNAL Genomics 79 (2), 197-209 (2002) PUBMED 11829490 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC137935.2, AC104305.2, AC099537.2, AC099059.2 and AC097356.2. On Apr 13, 2016 this sequence version replaced XP_011532177.1. Summary: This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 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 :: SRR1660807.123651.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1235 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3p22.1" Protein 1..1235 /product="serine/threonine-protein kinase ULK4 isoform 2" /EC_number="2.7.11.1" /note="serine/threonine-protein kinase ULK4" /calculated_mol_wt=138284 Region 3..280 /region_name="STKc_ULK4" /note="Catalytic domain of the Serine/Threonine kinase, Unc-51-like kinase 4; cd14010" /db_xref="CDD:270912" Region 4..279 /region_name="S_TKc" /note="Serine/Threonine protein kinases, catalytic domain; smart00220" /db_xref="CDD:214567" Site order(10..14,18,31,33,59,75..78,82,84,121,123,125..126, 128,139,142,181..184) /site_type="active" /db_xref="CDD:270912" Site order(10..14,18,31,33,59,75..78,82,121,123,125..126,128, 139) /site_type="other" /note="ATP binding site [chemical binding]" /db_xref="CDD:270912" Site order(14,82,84,121,123,125,142,181..184) /site_type="other" /note="polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:270912" Site order(138..152,178..184) /site_type="other" /note="activation loop (A-loop)" /db_xref="CDD:270912" Region <486..>563 /region_name="Glycosyltransferase_GTB_type" /note="Glycosyltransferases catalyze the transfer of sugar moieties from activated donor molecules to specific acceptor molecules, forming glycosidic bonds. The acceptor molecule can be a lipid, a protein, a heterocyclic compound, or another carbohydrate...; cl10013" /db_xref="CDD:299143" Region 646..756 /region_name="ARM" /note="Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin; cd00020" /db_xref="CDD:237987" Region 842..880 /region_name="HEAT 1" /note="propagated from UniProtKB/Swiss-Prot (Q96C45.2)" Region 926..964 /region_name="HEAT 2" /note="propagated from UniProtKB/Swiss-Prot (Q96C45.2)" Region 1025..1063 /region_name="HEAT 3" /note="propagated from UniProtKB/Swiss-Prot (Q96C45.2)" Region 1151..1189 /region_name="HEAT 4" /note="propagated from UniProtKB/Swiss-Prot (Q96C45.2)" CDS 1..1235 /gene="ULK4" /gene_synonym="FAM7C1; REC01035" /coded_by="NM_001322500.2:137..3844" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:54986" /db_xref="HGNC:HGNC:15784" /db_xref="MIM:617010" ORIGIN 1 menfilyeei grgsktvvyk grrkgtinfv ailctdkckr peitnwvrlt reikhknivt 61 fhewyetsnh lwlvvelctg gslktviaqd enlpedvvre fgidlisglh hlhklgilfc 121 disprkille gpgtlkfsnf clakvegenl eeffalvaae egggdngenv lkksmksrvk 181 gspvytapev vrgadfsiss dlwslgclly emfsgkppff sesiseltek ilcedplppi 241 pkdssrpkas sdfinlldgl lqrdpqkrlt wtrllqhsfw kkafagadqe ssvedlslsr 301 ntmecsgpqd skellqnsqs rqakghksgq plghsfrlen ptefrpkstl egqlnesmfl 361 lssrptprts tavevspged mthcspqkts pltkitsghl sqqdlesqmr eliytdsdlv 421 vtpiidnpki mkqppvkfda kilhlptysv dkllflkdqd wndflqqvcs qidsteksmg 481 asraklnllc ylcvvaghqe vatrllhspl fqlliqhlri apnwdirakv ahvigllash 541 taelqentpv veaivlltel irenfrnskl kqcllptlge liylvatqee kkknprecwa 601 vplaaytvlm rclregeerv vnhmaakiie nvcttfsaqs qgfitgeigp ilwylfrhst 661 adslritavs alcritrhsp tafqnviekv glnsvinsla saickvqqym ltlfaamlsc 721 gihlqrliqe kgfvstiirl ldspstcira kaflvllyil iynremllls cqarlvmyie 781 rdsrkttpgk eqqsgneyls kcldllichi vqelprilgd ilnslanvsg rkhpstvqvk 841 qlklclplmp vvlhlvtsqv frpqvvteef lfsygtilsh iksvdsgetn idgaigltas 901 eefikitlsa feaiiqypil lkdyrstvvd yilpplvslv qsqnvewrlf slrllsetts 961 llvnqefgdg kekasvdsds nllalirdvl lpqyehille pdpvpayalk llvamtehnp 1021 tftrlveesk liplifevtl ehqesilgnt mqsviallsn lvackdsnme llyeqglvsh 1081 icnlltetat lcldvdnknn nemaapllfs lldilhsmlt ytsgivrlal qaqksgsged 1141 pqaaedllll nrpltdlisl lipllpnedp eifdvsskcl silvqlygge npdslspenv 1201 eifahlltsk edpkeqklll rilrrmkrlv eavvl // LOCUS NP_001272379 429 aa linear PRI 09-JUL-2020 DEFINITION pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 7 [Homo sapiens]. ACCESSION NP_001272379 VERSION NP_001272379.1 DBSOURCE REFSEQ: accession NM_001285450.2 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 429) 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 3 (residues 1 to 429) 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 429) 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 5 (residues 1 to 429) 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 429) 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 7 (residues 1 to 429) 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, BC033748.1, AC138932.4 and CA423507.1. ##Evidence-Data-START## Transcript exon combination :: BC033748.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2156670 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..429 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p13.11" Protein 1..429 /product="pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 7" /note="pyridoxal-dependent decarboxylase domain-containing protein 1" /calculated_mol_wt=47599 Region <172..371 /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:302748" CDS 1..429 /gene="PDXDC1" /gene_synonym="LP8165" /coded_by="NM_001285450.2:175..1464" /note="isoform 7 is encoded by transcript variant 7" /db_xref="CCDS:CCDS73831.1" /db_xref="GeneID:23042" /db_xref="HGNC:HGNC:28995" /db_xref="MIM:614244" ORIGIN 1 mdaslekiad ptlaemgknl keavkmleds qrrteeengk klisgdipgp lqgsgqdmvs 61 ilqlvqnlmh gdedeepqsp riqnigeqgh mallghslga yistldkekl rklttrilsd 121 ttlwlcrifr yengcayfhe eereglakic rlaihsryed fvvdgfnvly nkkpviylsa 181 aarpglgqyl cnqdvaflek likddiergr lplllvanag taavghtdki grlkelceqy 241 giwlhvegvn latlalgyvs ssvlaaakcd smtmtpgpwl glpavpavtl ykhddpaltl 301 vagltsnkpt dklralplwl slqylgldgf verikhacql sqrlqeslkk vnyikilved 361 elsspvvvfr ffqelpgsdp vfkavpvpnm tpsgvgrerh scdalnrwvr mavtplsfqv 421 pvhhhptcw // LOCUS NP_001302435 502 aa linear PRI 09-JUL-2020 DEFINITION protein ANKUB1 isoform 3 [Homo sapiens]. ACCESSION NP_001302435 VERSION NP_001302435.1 DBSOURCE REFSEQ: accession NM_001315506.2 KEYWORDS RefSeq. SOURCE Homo 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 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 AC069216.13 and AK304359.1. Transcript Variant: This variant (3) differs in the 3' UTR and 3' coding region compared to variant 1. The encoded isoform (3) has a shorter 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 :: AK304359.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2144333 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..502 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q25.1" Protein 1..502 /product="protein ANKUB1 isoform 3" /note="protein ANKUB1" /calculated_mol_wt=56469 Region 3..78 /region_name="TGS" /note="The TGS domain, named after the ThrRS, GTPase, and SpoT/RelA proteins where it occurs, is structurally similar to ubiquitin. TGS is a small domain of about 50 amino acid residues with a predominantly beta-sheet structure. There is no direct information...; cl25424" /db_xref="CDD:330245" Region 195..229 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 196..296 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:315466" Region 243..271 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" CDS 1..502 /gene="ANKUB1" /gene_synonym="C3orf16" /coded_by="NM_001315506.2:189..1697" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS82857.1" /db_xref="GeneID:389161" /db_xref="HGNC:HGNC:29642" ORIGIN 1 mrifiafegs fepfdvsade tvevvklmik dyfhiplsed kqgrrylelm yagaalkdsw 61 sladvgisfc stlkcfvkee dkptlyvfna vtqdtmpvme sislldktvs dlrtlvtlrc 121 glpvsvyclr tprglemydc ntlkdyqtdi gttlrldvwd gwkeflmgcl lgqklkvqry 181 lskegpvlky qkrvalyiaa fcgyieltew alkqgarphe avgvhpyraw chealhadvs 241 kcpihaaaea gqllilkafv nysvlcleck naagqtplti vfkhkhkdcv lyllskmwst 301 vsfpkisvpm riyikikqwi lraqshslhk sqfcgarvfg akvgdtvmvd gftkpkmtsk 361 swhkagnsds qsivlklpsl skqtasskpv nplaisqpdt rkqalkfhpl vnassfselq 421 khqqqnqkki tatarkkekl ikntylpqvp lppvsrvgys hpsffyatps adfllkssfs 481 sflehsgktp wenaiyclav ar // LOCUS NP_001354649 1180 aa linear PRI 09-JUL-2020 DEFINITION uncharacterized protein KIAA2012 isoform 2 [Homo sapiens]. ACCESSION NP_001354649 XP_006712235 VERSION NP_001354649.1 DBSOURCE REFSEQ: accession NM_001367720.2 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 1180) AUTHORS Anney RJ, Lasky-Su J, O'Dushlaine C, Kenny E, Neale BM, Mulligan A, Franke B, Zhou K, Chen W, Christiansen H, Arias-Vasquez A, Banaschewski T, Buitelaar J, Ebstein R, Miranda A, Mulas F, Oades RD, Roeyers H, Rothenberger A, Sergeant J, Sonuga-Barke E, Steinhausen H, Asherson P, Faraone SV and Gill M. TITLE Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 147B (8), 1369-1378 (2008) PUBMED 18951430 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC069148.6 and AC079354.4. On Mar 1, 2019 this sequence version replaced XP_006712235.1. 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 SAMEA2158569 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1180 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q33.1" Protein 1..1180 /product="uncharacterized protein KIAA2012 isoform 2" /calculated_mol_wt=135862 Region 623..1136 /region_name="DUF4670" /note="Domain of unknown function (DUF4670); pfam15709" /db_xref="CDD:318010" CDS 1..1180 /gene="KIAA2012" /coded_by="NM_001367720.2:374..3916" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:100652824" /db_xref="HGNC:HGNC:51250" ORIGIN 1 mftlsllsrg hgklgqdkqk levyfepedy lnwrspedyv pvskpqdknn asqhswslfl 61 pktfstrkga lilysegfai sawtpkerrk gpycprgpwr kldlelhtlq dlkeailayg 121 rqqgeqdraw qpylhfrsql esqaqrqiqp ghsakrylrg llrtwppdam yrlwcagyik 181 dsvllqdsql nvpkklrpqq dlsgvppkyh llpvfpsfwi qqgksfeqrq qgldegeaga 241 aghvdqgpla knhgsqgtrl pprrkqpwqe detqaedtsi enhlclyask esynektqqt 301 srkafghgri dhswlpsdks hitfcggafp nrkadlsdkq rnvklhkars shllqvlpae 361 rslfppvasa tgsriitpge vkkkkapkal klppiseepp rvleplksqf kanepptelf 421 ilpveihyht kqppkekahr rgaphpesep esseestpvw rpplkhasle tpweltvhlp 481 vdasrdtlsp qdddapphdv appldllppi kgkkspesqk gvdsprtsdh nsppslpnmr 541 vprralpaaq dssdptlghf llgpdgekvc lslpghtqte alpsgkayes vnsnisheee 601 gpssqhflka ntepranlhm nlyetspltq ttekqgaqqs leaaaqktge pqscinkali 661 csnrkefytr klhidmtpfl kesgnaldyq eeagrplret hhndqdpepr smtldspras 721 rtehiqtpea divqkvgrdy dvhhlhrgll gygpesperl savytsllpr eregkaeprl 781 fsqetsanis herdlineak rkekpkkdkt kgpkseregk vygqaeaaig kskdskakkk 841 lekktrpqrk rtqkernlei aaelsgpdvs yeetedtsnr gsfasdsfve dpwlspkyda 901 qesqvsldgr sspsqiatvt gnmeskeerr cedpskallt kreqekaswd rlraeraemr 961 wlevekkrre qeeqrqlqqe qlerakkmee eleleqqrrt eeirlrkqrl qeeqqrqeee 1021 erkqqlrlka aqerarqqqe efrrklrelq rkkqqeeaer aeaekqrqee lemqleeeqk 1081 hlmemaeeer leyqrrkqea eekarleaee rrqkeeeaar laleeatkqa qeqarqkaal 1141 ekhfhfyqel hkeasglqwt qnisrpwvys yfqflqiprp // LOCUS NP_001264056 443 aa linear PRI 09-JUL-2020 DEFINITION leucine-rich repeat-containing protein 31 isoform 2 [Homo sapiens]. ACCESSION NP_001264056 VERSION NP_001264056.1 DBSOURCE REFSEQ: accession NM_001277127.2 KEYWORDS RefSeq. SOURCE Homo 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 D'Mello RJ, Caldwell JM, Azouz NP, Wen T, Sherrill JD, Hogan SP and Rothenberg ME. TITLE LRRC31 is induced by IL-13 and regulates kallikrein expression and barrier function in the esophageal epithelium JOURNAL Mucosal Immunol 9 (3), 744-756 (2016) PUBMED 26462420 REMARK GeneRIF: this report shows that leucine-rich repeat-containing protein 31 (LRRC31) regulates esophageal epithelial barrier function REFERENCE 2 (residues 1 to 443) AUTHORS Walsh KM, Codd V, Smirnov IV, Rice T, Decker PA, Hansen HM, Kollmeyer T, Kosel ML, Molinaro AM, McCoy LS, Bracci PM, Cabriga BS, Pekmezci M, Zheng S, Wiemels JL, Pico AR, Tihan T, Berger MS, Chang SM, Prados MD, Lachance DH, O'Neill BP, Sicotte H, Eckel-Passow JE, van der Harst P, Wiencke JK, Samani NJ, Jenkins RB and Wrensch MR. CONSRTM ENGAGE Consortium Telomere Group TITLE Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk JOURNAL Nat. Genet. 46 (7), 731-735 (2014) PUBMED 24908248 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA425899.1, BC143582.1 and AK026912.1. 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) is shorter and has a distinct C-terminus, compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: BC143582.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..443 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q26.2" Protein 1..443 /product="leucine-rich repeat-containing protein 31 isoform 2" /note="leucine-rich repeat-containing protein 31; epididymis secretory protein Li 293; epididymis secretory sperm binding protein" /calculated_mol_wt=48645 Region 89..115 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275381" Region 91..349 /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(94..95,151,207,235,316,318,344) /site_type="other" /note="Substrate binding site [chemical binding]" /db_xref="CDD:238064" Region 116..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 172..227 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 227..246 /region_name="LRR 1" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" Region 228..255 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 255..275 /region_name="LRR 2" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" Region 256..283 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 283..293 /region_name="LRR 3" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" Region 284..311 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 311..331 /region_name="LRR 4" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" Region 312..339 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 339..360 /region_name="LRR 5" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" Region 340..367 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 367..387 /region_name="LRR 6" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" Region 368..395 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 395..415 /region_name="LRR 7" /note="propagated from UniProtKB/Swiss-Prot (Q6UY01.1)" CDS 1..443 /gene="LRRC31" /gene_synonym="HEL-S-293" /coded_by="NM_001277127.2:129..1460" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS63833.1" /db_xref="GeneID:79782" /db_xref="HGNC:HGNC:26261" ORIGIN 1 msqtrkktss egetkpqtst vnkflrgsna esrkedndlk tsdsqpsdwi qktatsetak 61 plssemewrs smeknehflq klgkkavnkc ldlnncgltt admkemvall pflpdleeld 121 iswngfvggt llsitqqmhl vsklkilrlg scrlttddvq algeafemip eleelnlswn 181 skvggnlpli lqkfqkgski qmielvdcsl tsedgtflgq llpmlqslev ldlsinrdiv 241 gslnsiaqgl kstsnlkvlk lhscglsqks vkildaafry lgelrkldls cnkdlgggfe 301 dspaqlvmlk hlqvldlhqc sltaddvmsl tqvipllsnl qeldlsankk mgsssenlls 361 rlrflpalks lvinncales etftalaeas vhlsalevfn lswnkcvggn lkllletlkl 421 smslqvlrls scslvtedva lle // LOCUS NP_001339526 424 aa linear PRI 09-JUL-2020 DEFINITION neural cell adhesion molecule 2 isoform 8 [Homo sapiens]. ACCESSION NP_001339526 VERSION NP_001339526.1 DBSOURCE REFSEQ: accession NM_001352597.2 KEYWORDS RefSeq. SOURCE Homo 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 Rasmussen KK, Falkesgaard MH, Winther M, Roed NK, Quistgaard CL, Teisen MN, Edslev SM, Petersen DL, Aljubouri A, Christensen C, Thulstrup PW, Lo Leggio L, Teilum K and Walmod PS. TITLE NCAM2 Fibronectin type-III domains form a rigid structure that binds and activates the Fibroblast Growth Factor Receptor JOURNAL Sci Rep 8 (1), 8957 (2018) PUBMED 29895898 REMARK GeneRIF: These results reveal that the NCAM2 FnIII domains form a rigid structure that binds and activates FGFR in a manner related to, but different from NCAM1. Publication Status: Online-Only REFERENCE 2 (residues 1 to 424) AUTHORS Scholz C, Steinemann D, Malzer M, Roy M, Arslan-Kirchner M, Illig T, Schmidtke J and Stuhrmann M. TITLE NCAM2 deletion in a boy with macrocephaly and autism: Cause, association or predisposition? JOURNAL Eur J Med Genet 59 (10), 493-498 (2016) PUBMED 27596683 REMARK GeneRIF: Our reported case raises the questions whether the NCAM2-deletion is the true cause of the autism spectrum disorder or only a risk factor and whether there might be any connection in NCAM2 with skull-size REFERENCE 3 (residues 1 to 424) AUTHORS Leshchyns'ka I, Liew HT, Shepherd C, Halliday GM, Stevens CH, Ke YD, Ittner LM and Sytnyk V. TITLE Abeta-dependent reduction of NCAM2-mediated synaptic adhesion contributes to synapse loss in Alzheimer's disease JOURNAL Nat Commun 6, 8836 (2015) PUBMED 26611261 REMARK GeneRIF: Abeta-dependent disruption of NCAM2 functions in Alzheimer's disease hippocampus contributes to synapse loss. Publication Status: Online-Only REFERENCE 4 (residues 1 to 424) AUTHORS Petit F, Plessis G, Decamp M, Cuisset JM, Blyth M, Pendlebury M and Andrieux J. TITLE 21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders JOURNAL Eur J Med Genet 58 (1), 44-46 (2015) PUBMED 25464110 REFERENCE 5 (residues 1 to 424) AUTHORS Winther M, Berezin V and Walmod PS. TITLE NCAM2/OCAM/RNCAM: cell adhesion molecule with a role in neuronal compartmentalization JOURNAL Int. J. Biochem. Cell Biol. 44 (3), 441-446 (2012) PUBMED 22155300 REMARK Review article REFERENCE 6 (residues 1 to 424) AUTHORS Rasmussen KK, Kulahin N, Kristensen O, Poulsen JC, Sigurskjold BW, Kastrup JS, Berezin V, Bock E, Walmod PS and Gajhede M. TITLE Crystal structure of the Ig1 domain of the neural cell adhesion molecule NCAM2 displays domain swapping JOURNAL J. Mol. Biol. 382 (5), 1113-1120 (2008) PUBMED 18706912 REMARK GeneRIF: In the crystal structure, two Ig domains interact by domain swapping, as the two N-terminal beta-strands are interchanged. REFERENCE 7 (residues 1 to 424) AUTHORS Schmitt-Ulms G, Hansen K, Liu J, Cowdrey C, Yang J, DeArmond SJ, Cohen FE, Prusiner SB and Baldwin MA. TITLE Time-controlled transcardiac perfusion cross-linking for the study of protein interactions in complex tissues JOURNAL Nat. Biotechnol. 22 (6), 724-731 (2004) PUBMED 15146195 REFERENCE 8 (residues 1 to 424) 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 9 (residues 1 to 424) AUTHORS Alenius M and Bohm S. TITLE Differential function of RNCAM isoforms in precise target selection of olfactory sensory neurons JOURNAL Development 130 (5), 917-927 (2003) PUBMED 12538518 REFERENCE 10 (residues 1 to 424) AUTHORS Paoloni-Giacobino A, Chen H and Antonarakis SE. TITLE Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome JOURNAL Genomics 43 (1), 43-51 (1997) PUBMED 9226371 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK302870.1. Summary: The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection of the primary olfactory axons. [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 :: AK302870.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..424 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21q21.1" Protein 1..424 /product="neural cell adhesion molecule 2 isoform 8" /note="NCAM-2; N-CAM-2" /calculated_mol_wt=47420 Region 46..137 /region_name="Ig1_NCAM-2" /note="First immunoglobulin (Ig)-like domain of neural cell adhesion molecule NCAM-2; cd05866" /db_xref="CDD:143274" Site order(61,63..64) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:143274" Region 147..212 /region_name="Ig_3" /note="Immunoglobulin domain; pfam13927" /db_xref="CDD:316449" Region 233..326 /region_name="Ig" /note="Immunoglobulin domain; cl11960" /db_xref="CDD:325142" Region 325..422 /region_name="Ig_NCAM-2" /note="Immunoglobulin (Ig)-like domain of Neural Cell Adhesion Molecule NCAM-2 (also known as OCAM/mamFas II and RNCAM); cd05870" /db_xref="CDD:143278" CDS 1..424 /gene="NCAM2" /gene_synonym="NCAM21" /coded_by="NM_001352597.2:112..1386" /note="isoform 8 is encoded by transcript variant 8" /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 dies // LOCUS NP_001304977 772 aa linear PRI 09-JUL-2020 DEFINITION laminin subunit beta-4 isoform 3 precursor [Homo sapiens]. ACCESSION NP_001304977 VERSION NP_001304977.1 DBSOURCE REFSEQ: accession NM_001318048.2 KEYWORDS RefSeq. SOURCE Homo 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 Coble JL, Sheldon KE, Yue F, Salameh TJ, Harris LR III, Deiling S, Ruggiero FM, Eshelman MA, Yochum GS, Koltun WA, Gerhard GS and Broach JR. TITLE Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing JOURNAL Hum. Mol. Genet. 26 (16), 3212-3220 (2017) PUBMED 28595269 REMARK GeneRIF: We identified a rare single nucleotide variant in the laminin beta 4 gene (LAMB4) that segregated with familial diverticulitis in a dominant pattern and causes a damaging missense substitution (D435N). Targeted sequencing of LAMB4 in 148 non-familial and unrelated sporadic diverticulitis patients identified two additional rare variants in the gene. REFERENCE 2 (residues 1 to 772) AUTHORS Choi MR, An CH, Yoo NJ and Lee SH. TITLE Laminin gene LAMB4 is somatically mutated and expressionally altered in gastric and colorectal cancers JOURNAL APMIS 123 (1), 65-71 (2015) PUBMED 25257191 REMARK GeneRIF: Loss of LAMB4 expression was identified in 17-32% of the GC and CRC. Of note, the loss expression was more common in the cancers with LAMB4 mutation or those with MSI-H. REFERENCE 3 (residues 1 to 772) AUTHORS Amin N, Byrne E, Johnson J, Chenevix-Trench G, Walter S, Nolte IM, Vink JM, Rawal R, Mangino M, Teumer A, Keers JC, Verwoert G, Baumeister S, Biffar R, Petersmann A, Dahmen N, Doering A, Isaacs A, Broer L, Wray NR, Montgomery GW, Levy D, Psaty BM, Gudnason V, Chakravarti A, Sulem P, Gudbjartsson DF, Kiemeney LA, Thorsteinsdottir U, Stefansson K, van Rooij FJ, Aulchenko YS, Hottenga JJ, Rivadeneira FR, Hofman A, Uitterlinden AG, Hammond CJ, Shin SY, Ikram A, Witteman JC, Janssens AC, Snieder H, Tiemeier H, Wolfenbuttel BH, Oostra BA, Heath AC, Wichmann E, Spector TD, Grabe HJ, Boomsma DI, Martin NG and van Duijn CM. CONSRTM kConFab Investigators TITLE Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM JOURNAL Mol. Psychiatry 17 (11), 1116-1129 (2012) PUBMED 21876539 REFERENCE 4 (residues 1 to 772) 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 5 (residues 1 to 772) AUTHORS Schonberger J, Kuhler L, Martins E, Lindner TH, Silva-Cardoso J and Zimmer M. TITLE A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1 JOURNAL Hum. Genet. 118 (3-4), 451-457 (2005) PUBMED 16228230 REFERENCE 6 (residues 1 to 772) AUTHORS Dry K, Kenwrick S, Rosenthal A and Platzer M. TITLE The complete sequence of the human locus for NgCAM-related cell adhesion molecule reveals a novel alternative exon in chick and man and conserved genomic organization for the L1 subfamily JOURNAL Gene 273 (1), 115-122 (2001) PUBMED 11483367 REFERENCE 7 (residues 1 to 772) 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 AC005048.2, AK300385.1, BC142619.1 and BC144591.1. Transcript Variant: This variant (4) lacks several exons, and uses an alternate 3'-terminal exon, compared to variant a. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus, compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: BC142619.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..772 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q31.1" Protein 1..772 /product="laminin subunit beta-4 isoform 3 precursor" /note="laminin beta-1-related protein" /calculated_mol_wt=82839 sig_peptide 1..19 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2284 Region 42..263 /region_name="Laminin_N" /note="Laminin N-terminal (Domain VI); pfam00055" /db_xref="CDD:278484" Site 169 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A4D0S4.1)" Site 229 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A4D0S4.1)" Site 246 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A4D0S4.1)" Region 264..320 /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(265,267,274,295,297,306) /site_type="other" /note="EGF-like motif" /db_xref="CDD:238012" Region 332..382 /region_name="Laminin_EGF" /note="Laminin EGF domain; pfam00053" /db_xref="CDD:278482" Site order(332,334,341,359,362,371) /site_type="other" /note="EGF-like motif" /db_xref="CDD:238012" Region 395..452 /region_name="Laminin_EGF" /note="Laminin EGF domain; pfam00053" /db_xref="CDD:278482" Site order(395,397,408,423,425,434) /site_type="other" /note="EGF-like motif" /db_xref="CDD:238012" Region 454..503 /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(455,457,468,475,477,486) /site_type="other" /note="EGF-like motif" /db_xref="CDD:238012" Region 505..549 /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(506,508,518,525,527,536) /site_type="other" /note="EGF-like motif" /db_xref="CDD:238012" Region 706..753 /region_name="GVQW" /note="Putative domain of unknown function; pfam13900" /db_xref="CDD:290611" CDS 1..772 /gene="LAMB4" /coded_by="NM_001318048.2:87..2405" /note="isoform 3 precursor is encoded by transcript variant 4" /db_xref="CCDS:CCDS83218.1" /db_xref="GeneID:22798" /db_xref="HGNC:HGNC:6491" /db_xref="MIM:616380" ORIGIN 1 mqfqltlflh lgwlsyskaq ddcnrgachp ttgdllvgrn tqlmasstcg lsraqkycil 61 sylegeqkcf icdsrfpydp ydqpnshtie nvivsfepdr ekkwwqseng ldhvsirldl 121 ealfrfshli ltfktfrpaa mlverstdyg hnwkvfkyfa kdcatsfpni tsgqaqgvgd 181 ivcdskysdi epstggevvl kvldpsfeie npyspyiqdl vtltnlrinf tklhtlgdal 241 lgrrqndsld kyyyalyemi vrgscfcngh asecrpmqkm rgdvfsppgm vhgqcvcqhn 301 tdgpncerck dffqdapwrp aadlqdnacr scscnshssr chfdmttyla sgglsggvce 361 dcqhntegqh cdrcrplfyr dplktisdpy acipcecdpd gtisggicvs hsdpalgsva 421 gqclckenve gakcdqckpn hyglsatdpl gcqpcdcnpl gslpfltcdv dtgqclclsy 481 vtgahceect vgywglgnhl hgcspcdcdi ggaysnvcsp kngqcecrph vtgrscsepa 541 pgyffaplnf ylyeaeeatt lqglaplgse tfgqspavhv vlgepvpgnp vtwtgpgfar 601 vlpgaglrfa vnnipfpvdf tiaihyetqs aadwtvqivv nppggsehci pktlqskpqs 661 falpaatrim llptpiclep dvqysidvyf sqplqgesha hshvlvdsaa vqwhnlgslq 721 ppppeckqfs cfsfpsswdy rhppphlanf cifsrdgvsp hwpgwsqtpd lr // LOCUS NP_001171886 782 aa linear PRI 09-JUL-2020 DEFINITION uncharacterized protein C3orf20 isoform 2 [Homo sapiens]. ACCESSION NP_001171886 VERSION NP_001171886.1 DBSOURCE REFSEQ: accession NM_001184957.2 KEYWORDS RefSeq. SOURCE Homo 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 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, AL136781.1 and BC038406.1. Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream 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 (2). ##Evidence-Data-START## Transcript exon combination :: AL136781.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..782 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3p25.1" Protein 1..782 /product="uncharacterized protein C3orf20 isoform 2" /note="uncharacterized protein C3orf20" /calculated_mol_wt=87899 Region 239..442 /region_name="FAM194" /note="FAM194 protein; pfam14977" /db_xref="CDD:317400" CDS 1..782 /gene="C3orf20" /coded_by="NM_001184957.2:275..2623" /note="isoform 2 is encoded by transcript variant 3" /db_xref="CCDS:CCDS54555.1" /db_xref="GeneID:84077" /db_xref="HGNC:HGNC:25320" ORIGIN 1 marqvrthqe tlnrfqqqsi hlltellrlk mkamvesmsv ganplditrr fveasqllhl 61 nakemafncl istagrsgys sgqlwkesla nmsaigvnsp yqliyhssta clsfslsagk 121 eakkkigksr ttedvsmppl hrgvgtpans lefsdpcpea reklqelcrh ieaeratwkg 181 rnisypmilr nykakmpshl mlarkgdsqt pglhypptag aqtlsptshp ssanhhfsqh 241 cqegkapkka fkfhytfydg ssfvyypsgn vavcqiptcc rgrtitclfn dipgfsllal 301 fntegqgcvh ynlktscpyv lildeeggtt ndqqgyvvhk wswtsrtetl lsleykvnee 361 mklkvlgqds itvtftslne tvtltvsann cphgmaydkr lnrrisnmdd kvykmsrala 421 eikkrfqktv tqfinsilla aglftieypt kkeeeefvrf kmrsrthper lpklslysge 481 sllrsqsghl essiaetlkd epesapvspv rkttkihtka kvtsrgkare grsptrwaal 541 psdcplvlrk lmlkedtrag ckclvkaplv sdvelerfll aprdpsqvlv fgiissqnyt 601 stgqlqwlln tlynhqqrgr gspciqcryd syrllqydld splqedpplm vkknsvvqgm 661 ilmfaggkli fggrvlngyg lskqnllkqi frsqqdykmg yflpddykfs vpnsvlsled 721 sesvkkaese diqgssssla ledyvekels leaektrepe velhplsrds kitswkkqas 781 kk // LOCUS NP_001292093 576 aa linear PRI 09-JUL-2020 DEFINITION RING finger and SPRY domain-containing protein 1 isoform 1 precursor [Homo sapiens]. ACCESSION NP_001292093 XP_011521733 VERSION NP_001292093.1 DBSOURCE REFSEQ: accession NM_001305164.2 KEYWORDS RefSeq. SOURCE Homo 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 Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K and Alikasifoglu M. TITLE Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis JOURNAL Am. J. Med. Genet. A 176 (9), 2009-2016 (2018) PUBMED 30063090 REMARK GeneRIF: we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and craniosynostosis along with recognizable facial features and intellectual disability. REFERENCE 2 (residues 1 to 576) AUTHORS Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I, Maas RL, Boycott K and Alkuraya FS. CONSRTM Care4Rare Canada Consortium TITLE Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations JOURNAL Am. J. Hum. Genet. 97 (4), 608-615 (2015) PUBMED 26365341 REMARK GeneRIF: RSPRY1 Mutations are associated with Progressive Skeletal Dysplasia. REFERENCE 3 (residues 1 to 576) 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 DB083249.1, AB075852.1, BC013173.2, AC009090.12 and AL834402.1. On Mar 22, 2015 this sequence version replaced XP_011521733.1. Summary: This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]. 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). ##Evidence-Data-START## Transcript exon combination :: SRR1660809.29789.1, AB075852.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..576 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16q13" Protein 1..576 /product="RING finger and SPRY domain-containing protein 1 isoform 1 precursor" /note="RING finger and SPRY domain-containing protein 1" /calculated_mol_wt=62444 sig_peptide 1..16 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1754 mat_peptide 17..576 /product="RING finger and SPRY domain-containing protein 1. /id=PRO_0000278786" /note="propagated from UniProtKB/Swiss-Prot (Q96DX4.1)" /calculated_mol_wt=62444 Site 50 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q8BVR6; propagated from UniProtKB/Swiss-Prot (Q96DX4.1)" Site 314 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96DX4.1)" Region 359..479 /region_name="SPRY_RING" /note="SPRY domain at N-terminus of Really Interesting New Gene (RING) finger domain; cd12883" /db_xref="CDD:293941" Region 525..565 /region_name="RING-HC_RSPRY1" /note="RING finger, HC subclass, found in RING finger and SPRY domain-containing protein 1 (RSPRY1) and similar proteins; cd16566" /db_xref="CDD:319480" Region 527..561 /region_name="RING-HC finger (C3HC4-type)" /note="RING-HC finger (C3HC4-type) [structural motif]" /db_xref="CDD:319480" Site order(527,530,542,544,548,551,558,561) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:319480" CDS 1..576 /gene="RSPRY1" /gene_synonym="SEMDFA" /coded_by="NM_001305164.2:257..1987" /note="isoform 1 precursor is encoded by transcript variant 3" /db_xref="CCDS:CCDS10775.1" /db_xref="GeneID:89970" /db_xref="HGNC:HGNC:29420" /db_xref="MIM:616585" ORIGIN 1 mivfgwavfl asrslgqgll ltleehiahf lgtggaattm gnscicrdds gtddsvdtqq 61 qqaensavpt adtrsqprdp vrpprrgrgp heprrkkqnv dglvldtlav irtlvdndqe 121 ppysmitlhe maetdegwld vvqslirvip ledplgpavi tllldecplp tkdalqklte 181 ilnlngevac qdsshpakhr ntsavlgcla eklagpasig llspgileyl lqclklqshp 241 tvmlfalial ekfaqtsenk ltisessisd rlvtleswan dpdylkrqvg fcaqwsldnl 301 flkegrqlty ekvnlssira mlnsndvsey lkisphglea rcdassfesv rctfcvdagv 361 wyyevtvvts gvmqigwatr dskflnhegy gigddeysca ydgcrqliwy narskphihp 421 cwkegdtvgf lldlnekqmi fflngnqlpp ekqvfsstvs gffaaasfms yqqcefnfga 481 kpfkyppsmk fstfndyafl taeekiilpr hrrlallkqv sirenccslc cdevadtqlk 541 pcghsdlcmd calqletcpl crkeivsrir qishis // LOCUS NP_001335702 89 aa linear PRI 09-JUL-2020 DEFINITION colipase-like protein 1 isoform 2 precursor [Homo sapiens]. ACCESSION NP_001335702 VERSION NP_001335702.1 DBSOURCE REFSEQ: accession NM_001348773.2 KEYWORDS RefSeq. SOURCE Homo 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 Li JY, Wang HY, Liu J, Liu Q, Zhang JS, Wan FC, Liu FJ, Jin SH and Zhang YL. TITLE Transcriptome analysis of a cDNA library from adult human epididymis JOURNAL DNA Res. 15 (3), 115-122 (2008) PUBMED 18390568 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL157823.9. 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. Sequence Note: The RefSeq transcript and protein were derived from 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 :: ERR279841.5769.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..89 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p21.31" Protein 1..89 /product="colipase-like protein 1 isoform 2 precursor" /note="colipase-like protein C6orf127; colipase-like protein 1" /calculated_mol_wt=7208 sig_peptide 1..23 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2874 Region 23..>74 /region_name="COLIPASE" /note="Colipase; a stoichiometric cofactor for pancreatic lipase, allowing the enzyme to anchor itself to the water-lipid interface and stabilizing the active enzyme conformation; cl24053" /db_xref="CDD:329263" CDS 1..89 /gene="CLPSL1" /gene_synonym="C6orf127; dJ510O8.6; ESP32" /coded_by="NM_001348773.2:93..362" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="GeneID:340204" /db_xref="HGNC:HGNC:21251" ORIGIN 1 mmlpqwllll fllffflfll trgslsptky nllelkesci rnqdcetgcc qrapdncesh 61 caekgsegsl cqtqlpatpc flpsntvrt // LOCUS NP_001287989 350 aa linear PRI 09-JUL-2020 DEFINITION MORN repeat-containing protein 1 isoform 2 [Homo sapiens]. ACCESSION NP_001287989 XP_005244856 VERSION NP_001287989.1 DBSOURCE REFSEQ: accession NM_001301060.2 KEYWORDS RefSeq. SOURCE Homo 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 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] REFERENCE 2 (residues 1 to 350) 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 3 (residues 1 to 350) AUTHORS Bonaldo MF, Lennon G and Soares MB. TITLE Normalization and subtraction: two approaches to facilitate gene discovery JOURNAL Genome Res. 6 (9), 791-806 (1996) PUBMED 8889548 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC021704.2, AL513477.21 and BU741473.1. On Jul 21, 2014 this sequence version replaced XP_005244856.1. Transcript Variant: This variant (2) lacks multiple 3' coding exons and 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 :: BC021704.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..350 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.32" Protein 1..350 /product="MORN repeat-containing protein 1 isoform 2" /note="MORN repeat-containing protein 1" /calculated_mol_wt=38044 Region 39..61 /region_name="MORN" /note="MORN repeat; pfam02493" /db_xref="CDD:280628" Region 39..61 /region_name="MORN 1" /note="propagated from UniProtKB/Swiss-Prot (Q5T089.2)" Region 59..191 /region_name="COG4642" /note="Uncharacterized conserved protein [Function unknown]" /db_xref="CDD:226989" Region 62..84 /region_name="MORN 2" /note="propagated from UniProtKB/Swiss-Prot (Q5T089.2)" Region 86..108 /region_name="MORN 3" /note="propagated from UniProtKB/Swiss-Prot (Q5T089.2)" Region 109..131 /region_name="MORN 4" /note="propagated from UniProtKB/Swiss-Prot (Q5T089.2)" Region 132..154 /region_name="MORN 5" /note="propagated from UniProtKB/Swiss-Prot (Q5T089.2)" Region 155..177 /region_name="MORN" /note="MORN repeat; pfam02493" /db_xref="CDD:280628" Region 155..177 /region_name="MORN 6" /note="propagated from UniProtKB/Swiss-Prot (Q5T089.2)" Region 178..200 /region_name="MORN 7" /note="propagated from UniProtKB/Swiss-Prot (Q5T089.2)" CDS 1..350 /gene="MORN1" /coded_by="NM_001301060.2:22..1074" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS72688.1" /db_xref="GeneID:79906" /db_xref="HGNC:HGNC:25852" ORIGIN 1 maaagegtps srgprrdppr rpprngygvy vypnsffrye gewkagrkhg hgkllfkdgs 61 yyegafvdge itgegrrhwa wsgdtfsgqf vlgepqgygv meykaggcye gevshgmreg 121 hgflvdrdgq vyqgsfhdnk rhgpgqmlfq ngdkydgdwv rdrrqghgvl rcadgstykg 181 qwhsdvfsgl gsmahcsgvt yyglwinghp aeqatrivil gpevmevaqg spfsvnvqll 241 qdhgeiakse sgrvlqisag vryvqlsays evnffkvdrd nqetliqtpf gfecipypvs 301 spaagvpgpr aakggaeadv plprgdlelh lgalhgqedt pggllgsslf // LOCUS NP_001308328 159 aa linear PRI 09-JUL-2020 DEFINITION uncharacterized protein C17orf78 isoform 2 [Homo sapiens]. ACCESSION NP_001308328 XP_011522952 XP_011545106 VERSION NP_001308328.1 DBSOURCE REFSEQ: accession NM_001321399.2 KEYWORDS RefSeq. SOURCE Homo 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 Garner C, Ahn R, Ding YC, Steele L, Stoven S, Green PH, Fasano A, Murray JA and Neuhausen SL. TITLE Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus JOURNAL PLoS ONE 9 (7), e101428 (2014) PUBMED 24999842 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 159) AUTHORS Pharoah PD, Tsai YY, Ramus SJ, Phelan CM, Goode EL, Lawrenson K, Buckley M, Fridley BL, Tyrer JP, Shen H, Weber R, Karevan R, Larson MC, Song H, Tessier DC, Bacot F, Vincent D, Cunningham JM, Dennis J, Dicks E, Aben KK, Anton-Culver H, Antonenkova N, Armasu SM, Baglietto L, Bandera EV, Beckmann MW, Birrer MJ, Bloom G, Bogdanova N, Brenton JD, Brinton LA, Brooks-Wilson A, Brown R, Butzow R, Campbell I, Carney ME, Carvalho RS, Chang-Claude J, Chen YA, Chen Z, Chow WH, Cicek MS, Coetzee G, Cook LS, Cramer DW, Cybulski C, Dansonka-Mieszkowska A, Despierre E, Doherty JA, Dork T, du Bois A, Durst M, Eccles D, Edwards R, Ekici AB, Fasching PA, Fenstermacher D, Flanagan J, Gao YT, Garcia-Closas M, Gentry-Maharaj A, Giles G, Gjyshi A, Gore M, Gronwald J, Guo Q, Halle MK, Harter P, Hein A, Heitz F, Hillemanns P, Hoatlin M, Hogdall E, Hogdall CK, Hosono S, Jakubowska A, Jensen A, Kalli KR, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Konecny GE, Krakstad C, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le ND, Lee N, Lee J, Leminen A, Lim BK, Lissowska J, Lubinski J, Lundvall L, Lurie G, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, Menon U, Modugno F, Moysich KB, Nakanishi T, Narod SA, Ness RB, Nevanlinna H, Nickels S, Noushmehr H, Odunsi K, Olson S, Orlow I, Paul J, Pejovic T, Pelttari LM, Permuth-Wey J, Pike MC, Poole EM, Qu X, Risch HA, Rodriguez-Rodriguez L, Rossing MA, Rudolph A, Runnebaum I, Rzepecka IK, Salvesen HB, Schwaab I, Severi G, Shen H, Shridhar V, Shu XO, Sieh W, Southey MC, Spellman P, Tajima K, Teo SH, Terry KL, Thompson PJ, Timorek A, Tworoger SS, van Altena AM, van den Berg D, Vergote I, Vierkant RA, Vitonis AF, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wik E, Winterhoff B, Woo YL, Wu AH, Yang HP, Zheng W, Ziogas A, Zulkifli F, Goodman MT, Hall P, Easton DF, Pearce CL, Berchuck A, Chenevix-Trench G, Iversen E, Monteiro AN, Gayther SA, Schildkraut JM and Sellers TA. CONSRTM Australian Cancer Study; Australian Ovarian Cancer Study Group TITLE GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer JOURNAL Nat. Genet. 45 (4), 362-370 (2013) PUBMED 23535730 REFERENCE 3 (residues 1 to 159) 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 159) 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 AC243654.3, AK096966.1 and BC034672.1. On or before Mar 23, 2016 this sequence version replaced XP_011522952.1, XP_011545106.1. ##Evidence-Data-START## Transcript exon combination :: AK096966.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144835, SAMEA2152474 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..159 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q12" Protein 1..159 /product="uncharacterized protein C17orf78 isoform 2" /note="uncharacterized protein C17orf78" /calculated_mol_wt=17792 Region 1..>134 /region_name="DUF4711" /note="Domain of unknown function (DUF4711); pfam15829" /db_xref="CDD:292457" CDS 1..159 /gene="C17orf78" /coded_by="NM_001321399.2:109..588" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS82110.1" /db_xref="GeneID:284099" /db_xref="HGNC:HGNC:26831" ORIGIN 1 mdtilvfsli iasydankkd lrdsscrleq lpgifpkdvr sirelqmqet htetkrttfi 61 qnrtiatlqc lgsdskvkvn lvylerrpkv khilknlrii aaprrnssas sschliptsk 121 fqtgsllkgk vsmprsqeav pmpvvvemak egrpatwds // LOCUS NP_001073951 976 aa linear PRI 10-JUL-2020 DEFINITION apical junction component 1 homolog [Homo sapiens]. ACCESSION NP_001073951 XP_372159 VERSION NP_001073951.2 DBSOURCE REFSEQ: accession NM_001080482.4 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. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL355987.31. On Jun 12, 2007 this sequence version replaced NP_001073951.1. 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 SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..976 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q34.3" Protein 1..976 /product="apical junction component 1 homolog" /note="uncharacterized protein C9orf172" /calculated_mol_wt=106520 Site 52 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:A2AJA9; propagated from UniProtKB/Swiss-Prot (C9J069.1)" Site 129 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:A2AJA9; propagated from UniProtKB/Swiss-Prot (C9J069.1)" Site 322 /site_type="methylation" /note="Omega-N-methylarginine. /evidence=ECO:0000250|UniProtKB:A2AJA9; propagated from UniProtKB/Swiss-Prot (C9J069.1)" Site 468 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:A2AJA9; propagated from UniProtKB/Swiss-Prot (C9J069.1)" Site 509 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:A2AJA9; propagated from UniProtKB/Swiss-Prot (C9J069.1)" Site 512 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:A2AJA9; propagated from UniProtKB/Swiss-Prot (C9J069.1)" Region <611..660 /region_name="Ribosomal_P1_P2_L12p" /note="Ribosomal protein P1, P2, and L12p. Ribosomal proteins P1 and P2 are the eukaryotic proteins that are functionally equivalent to bacterial L7/L12. L12p is the archaeal homolog. Unlike other ribosomal proteins, the archaeal L12p and eukaryotic P1 and P2...; cl21508" /db_xref="CDD:304398" Region 668..710 /region_name="zf-MYND" /note="MYND finger; pfam01753" /db_xref="CDD:280009" Site 749 /site_type="methylation" /note="Asymmetric dimethylarginine, alternate. /evidence=ECO:0000250|UniProtKB:A2AJA9; Omega-N-methylarginine, alternate. /evidence=ECO:0000250|UniProtKB:A2AJA9; propagated from UniProtKB/Swiss-Prot (C9J069.1)" CDS 1..976 /gene="AJM1" /gene_synonym="ajm-1; C9orf172" /coded_by="NM_001080482.4:256..3186" /db_xref="CCDS:CCDS48059.1" /db_xref="GeneID:389813" /db_xref="HGNC:HGNC:37284" ORIGIN 1 mtrtdppdll vstvyqdikv atpgpaskcs pcersvarpa epapfnkrhc rsfdfleald 61 gpametlpep pppesavpra rtreaeprrr arsksaprap pgltpapasp pvlprrgrea 121 qraaraeasp rrepaypalr alanelhpik lqpqrggpgr vaplcaaagr cappeppagp 181 aphvrcrldi kpddavlqha trgsrscgpt eaahwarpap qfhgltvpgp rhmalsrtpt 241 psdsycadpr afycdgplpg prdyaerrsl pfttppgptq ffyteepqgf rgsfaaspgp 301 tfdayyprpy pseelsgpsp rrmggyyage vrtfpiqepp srsyygeapr ayglpygpry 361 vpeeprahst arpfytedfg ryrerdvlar typhprsspa wadwgprpyr tlqvvppsdp 421 dpllaswhgg tgtspprlat dsrhysrswd nilapgprre dplgrgrsye nllgrevrep 481 rgvspegrrp pvvvnlstsp rryaalslse tsltekgrag eglgrnwyvt peititdndl 541 raterpsara welpggrtrp pphaapdgpt sgrqrsleql delitdlvid srptagqase 601 paadclgpql rrlldsrpag sgapalappr sppasagsae epaapgeaad aspepsaded 661 dlmtcsnarc rrtetmfnac lyfkschscy tyycsrlcrr edwdahkarc vygrvgsvcr 721 hvlqfcrdsg pvhrafsria rvgflsrgrg vlflgfpspg sadnflrfgl eglllsptyl 781 slrelathaa plgsyarela aagrlyepae cfllsvsvav gpgtappgtp alpapaprsh 841 gptvrkfakv alaagsparp pparsrepdm etliltpppg tagldqdgea grrarevafi 901 hiqrelrlrg vflrhefprv yeqlcefvea nrrftpttiy ptdrrtgrpf mcmimaasep 961 raldwvasan llddim // LOCUS NP_114113 913 aa linear PRI 10-JUL-2020 DEFINITION ubiquitin carboxyl-terminal hydrolase 26 [Homo sapiens]. ACCESSION NP_114113 VERSION NP_114113.1 DBSOURCE REFSEQ: accession NM_031907.2 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 913) AUTHORS Felipe-Medina N, Gomez-H L, Condezo YB, Sanchez-Martin M, Barbero JL, Ramos I, Llano E and Pendas AM. TITLE Ubiquitin-specific protease 26 (USP26) is not essential for mouse gametogenesis and fertility JOURNAL Chromosoma 128 (3), 237-247 (2019) PUBMED 30887115 REMARK GeneRIF: These results represent the first in vivo evidence showing that USP26 is not essential for mouse gametogenesis. REFERENCE 2 (residues 1 to 913) AUTHORS Ning B, Zhao W, Qian C, Liu P, Li Q, Li W and Wang RF. TITLE USP26 functions as a negative regulator of cellular reprogramming by stabilising PRC1 complex components JOURNAL Nat Commun 8 (1), 349 (2017) PUBMED 28839133 REMARK GeneRIF: Data show that USP26 interacts with PRC1 components chromobox (CBX)-containing proteins CBX4 and CBX6. Publication Status: Online-Only REFERENCE 3 (residues 1 to 913) AUTHORS Kit Leng Lui S, Iyengar PV, Jaynes P, Isa ZFBA, Pang B, Tan TZ and Eichhorn PJA. TITLE USP26 regulates TGF-beta signaling by deubiquitinating and stabilizing SMAD7 JOURNAL EMBO Rep. 18 (5), 797-808 (2017) PUBMED 28381482 REMARK GeneRIF: findings demonstrate TGF-beta enhances expression of USP26 and reinforces SMAD7 stability by limiting the ubiquitin-mediated turnover of SMAD7; clinically, loss of USP26 correlates with high TGF-beta activity and confers poor prognosis in glioblastoma; data identify USP26 as a novel negative regulator of the TGF-beta pathway and suggest that loss of USP26 expression may be an important factor in glioblastoma pathogenesis Erratum:[EMBO Rep. 2020 Jan 7;21(1):e49618. PMID: 31910334] REFERENCE 4 (residues 1 to 913) AUTHORS Lahav-Baratz S, Kravtsova-Ivantsiv Y, Golan S and Ciechanover A. TITLE The testis-specific USP26 is a deubiquitinating enzyme of the ubiquitin ligase Mdm2 JOURNAL Biochem. Biophys. Res. Commun. 482 (1), 106-111 (2017) PUBMED 27810359 REMARK GeneRIF: The interaction between USP26 and Mdm2, and the subsequent deubiquitination of Mdm2, serves, most probably to regulate Mdm2. Future therapeutic modalities that interfere with the association between USP26 and Mdm2 will be used to destabilize the ligase in malignancies where it is upregulated. REFERENCE 5 (residues 1 to 913) AUTHORS Luddi A, Crifasi L, Quagliarello A, Governini L, De Leo V and Piomboni P. TITLE Single nucleotide polymorphisms of USP26 in azoospermic men JOURNAL Syst Biol Reprod Med 62 (6), 372-378 (2016) PUBMED 27726449 REMARK GeneRIF: identification in a normozoospermic man of a nonsense mutation (c.882C>A) which causes the production of a truncated protein, suggests a marginal role of USP26 in male spermatogenesis REFERENCE 6 (residues 1 to 913) AUTHORS Paduch DA, Mielnik A and Schlegel PN. TITLE Novel mutations in testis-specific ubiquitin protease 26 gene may cause male infertility and hypogonadism JOURNAL Reprod. Biomed. Online 10 (6), 747-754 (2005) PUBMED 15970005 REMARK GeneRIF: The USP26 gene may be of importance in male reproduction. Mutations in this gene may be associated with male infertility, and may negatively affect testicular function. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 7 (residues 1 to 913) 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 8 (residues 1 to 913) AUTHORS Stouffs K, Lissens W, Tournaye H, Van Steirteghem A and Liebaers I. TITLE Possible role of USP26 in patients with severely impaired spermatogenesis JOURNAL Eur. J. Hum. Genet. 13 (3), 336-340 (2005) PUBMED 15562280 REMARK GeneRIF: Alterations in the USP26 gene may be involved in male infertility or might increase the risk of male infertility. These patients showed 370-371insACA, 494T>C and 1423C>T causing T123-124ins, L165S and H475Y, respectively GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 9 (residues 1 to 913) 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 913) AUTHORS Wang PJ, McCarrey JR, Yang F and Page DC. TITLE An abundance of X-linked genes expressed in spermatogonia JOURNAL Nat. Genet. 27 (4), 422-426 (2001) PUBMED 11279525 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF285593.1 and Z81365.2. This sequence is a reference standard in the RefSeqGene project. Summary: This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases and is a deubiquitinating enzyme (DUB) with His and Cys domains. It is specifically expressed in testis tissue. Mutations in this gene have been associated with Sertoli cell-only syndrome and male infertility. [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 :: AF285593.1, BC101190.2 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..913 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq26.2" Protein 1..913 /product="ubiquitin carboxyl-terminal hydrolase 26" /EC_number="3.4.19.12" /note="ubiquitin specific protease 26; ubiquitin thiolesterase 26; ubiquitin-specific processing protease 26; deubiquitinating enzyme 26; ubiquitin thioesterase 26" /calculated_mol_wt=103916 Region 3..103 /region_name="UCH_N" /note="N-terminal of ubiquitin carboxyl-terminal hydrolase 37; pfam16674" /db_xref="CDD:293279" Site order(28..30,41,47..49,51) /site_type="other" /note="homodimer interface [polypeptide binding]" /db_xref="CDD:270122" Region 296..>559 /region_name="UCH" /note="Ubiquitin carboxyl-terminal hydrolase; pfam00443" /db_xref="CDD:278850" Region 296..>558 /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...; cd02257" /db_xref="CDD:239072" Region <802..884 /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...; cd02257" /db_xref="CDD:239072" CDS 1..913 /gene="USP26" /coded_by="NM_031907.2:53..2794" /db_xref="CCDS:CCDS14635.1" /db_xref="GeneID:83844" /db_xref="HGNC:HGNC:13485" /db_xref="MIM:300309" ORIGIN 1 maalflrgfv qigncktgis kskeafieav erkkkdrlvl yfksgkystf rlsdniqnvv 61 lksyrgnqnh lhltlqnnng lfieglsstd aeqlkifldr vhqnevqppv rpgkggsvfs 121 sttqkeinkt sfhkvdekss sksfeiakgs gtgvlqrmpl ltskltltcg elsenqhkkr 181 krmlssssem neeflkenns veykkskadc srcvsynrek qlklkeleen kklecessci 241 mnatgnpyld digllqalte kmvlvfllqq gysdgytkwd klklffelfp ekichglpnl 301 gntcymnavl qsllsipsfa ddllnqsfpw gkiplnaltm clarllffkd tynieikeml 361 llnlkkaisa aaeifhgnaq ndaheflahc ldqlkdnmek lntiwkpkse fgednfpkqv 421 faddpdtsgf scpvitnfel ellhsiacka cgqvilktel nnylsinlpq rikahpssiq 481 stfdlffgae eleykcakce hktsvgvhsf srlprilivh lkryslnefc alkkndqevi 541 iskylkvssh cnegtrpplp lsedgeitdf qllkvirkmt sgnisvswpa tkeskdilap 601 higsdkeseq kkgqtvfkga srrqqqkylg knskpneles vysgdrafie keplahlmty 661 ledtslcqfh kaggkpassp gtplskvdfq tvpenpkrkk yvktskfvaf driinptkdl 721 yedkniripe rfqkvseqtq qcdgmriceq apqqalpqsf pkpgtqghtk nllrptklnl 781 qksnrnslla lgsnknprnk dildkikska ketkrnddkg dhtyrlisvv shlgktlksg 841 hyicdaydfe kqiwftyddm rvlgiqeaqm qedrrctgyi ffymhneife emlkreenaq 901 lnskeveetl qke // LOCUS NP_599028 663 aa linear PRI 10-JUL-2020 DEFINITION anion exchange transporter isoform b [Homo sapiens]. ACCESSION NP_599028 VERSION NP_599028.1 DBSOURCE REFSEQ: accession NM_134266.2 KEYWORDS RefSeq. SOURCE Homo 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 Cangul H, Liao XH, Schoenmakers E, Kero J, Barone S, Srichomkwun P, Iwayama H, Serra EG, Saglam H, Eren E, Tarim O, Nicholas AK, Zvetkova I, Anderson CA, Frankl FEK, Boelaert K, Ojaniemi M, Jaaskelainen J, Patyra K, Lof C, Williams ED, Soleimani M, Barrett T, Maher ER, Chatterjee VK, Refetoff S and Schoenmakers N. CONSRTM UK10K Consortium TITLE Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism JOURNAL JCI Insight 3 (20), 99631 (2018) PUBMED 30333321 REMARK GeneRIF: Study reports homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous congenital hypothyroidism and shows that goitrous hypothyroidism also occurs in Slc26a7-null mice. Publication Status: Online-Only REFERENCE 2 (residues 1 to 663) AUTHORS Zou M, Alzahrani AS, Al-Odaib A, Alqahtani MA, Babiker O, Al-Rijjal RA, BinEssa HA, Kattan WE, Al-Enezi AF, Al Qarni A, Al-Faham MSA, Baitei EY, Alsagheir A, Meyer BF and Shi Y. TITLE Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis JOURNAL J. Clin. Endocrinol. Metab. 103 (5), 1889-1898 (2018) PUBMED 29546359 REMARK GeneRIF: SLC26A7 mutations appear to be associated with thyroid dyshormonogenesis. REFERENCE 3 (residues 1 to 663) 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 4 (residues 1 to 663) 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 5 (residues 1 to 663) AUTHORS Xu B, Roos JL, Dexheimer P, Boone B, Plummer B, Levy S, Gogos JA and Karayiorgou M. TITLE Exome sequencing supports a de novo mutational paradigm for schizophrenia JOURNAL Nat. Genet. 43 (9), 864-868 (2011) PUBMED 21822266 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 663) AUTHORS Petrovic S, Ju X, Barone S, Seidler U, Alper SL, Lohi H, Kere J and Soleimani M. TITLE Identification of a basolateral Cl-/HCO3- exchanger specific to gastric parietal cells JOURNAL Am. J. Physiol. Gastrointest. Liver Physiol. 284 (6), G1093-G1103 (2003) PUBMED 12736153 REFERENCE 7 (residues 1 to 663) AUTHORS Lohi H, Kujala M, Makela S, Lehtonen E, Kestila M, Saarialho-Kere U, Markovich D and Kere J. TITLE Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9 JOURNAL J. Biol. Chem. 277 (16), 14246-14254 (2002) PUBMED 11834742 REFERENCE 8 (residues 1 to 663) AUTHORS Vincourt JB, Jullien D, Kossida S, Amalric F and Girard JP. TITLE Molecular cloning of SLC26A7, a novel member of the SLC26 sulfate/anion transporter family, from high endothelial venules and kidney JOURNAL Genomics 79 (2), 249-256 (2002) PUBMED 11829495 REMARK GeneRIF: the molecular cloning from human HEVEC of a 2.9-kb cDNA encoding SLC26A7, a novel member of the SLC26 (solute carrier 26) sulfate/anion exchanger family REFERENCE 9 (residues 1 to 663) AUTHORS Markovich D. TITLE Physiological roles and regulation of mammalian sulfate transporters JOURNAL Physiol. Rev. 81 (4), 1499-1533 (2001) PUBMED 11581495 REMARK Review article REFERENCE 10 (residues 1 to 663) AUTHORS Mocellin,R. and Buhlmeyer,K. TITLE Late banding operation in children with ventricular septal defect and pulmonary arterial hypertension JOURNAL Eur J Cardiol 3 (3), 205-211 (1975) PUBMED 1183472 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC104967.4 and AC087847.6. Summary: This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013]. Transcript Variant: This variant (2) differs in the 5' UTR and contains an alternate terminal exon, which results in a frameshift, compared to variant 3. The resulting isoform (b) 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 :: AJ413230.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..663 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="8" /map="8q21.3" Protein 1..663 /product="anion exchange transporter isoform b" /note="sulfate anion transporter; anion exchange transporter; solute carrier family 26 (anion exchanger), member 7; solute carrier family 6 member 7" /calculated_mol_wt=72902 Region 33..637 /region_name="sulP" /note="high affinity sulphate transporter 1; TIGR00815" /db_xref="CDD:273284" Site 76..96 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE54.2)" Site 145..165 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE54.2)" Site 167..187 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE54.2)" Site 203..223 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE54.2)" Site 228..248 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE54.2)" Site 255..275 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE54.2)" Site 307..327 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE54.2)" Site 344..364 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE54.2)" Site 384..404 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE54.2)" Site 405..425 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE54.2)" Site 449..469 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE54.2)" Region 495..631 /region_name="STAS_SulP_like_sulfate_transporter" /note="Sulphate Transporter and Anti-Sigma factor antagonist domain of SulP-like sulfate transporters, plays a role in the function and regulation of the transport activity, proposed general NTP binding function; cd07042" /db_xref="CDD:132913" CDS 1..663 /gene="SLC26A7" /gene_synonym="SUT2" /coded_by="NM_134266.2:209..2200" /note="isoform b is encoded by transcript variant 2" /db_xref="CCDS:CCDS6255.1" /db_xref="GeneID:115111" /db_xref="HGNC:HGNC:14467" /db_xref="MIM:608479" ORIGIN 1 mtgakrkkks mlwskmhtpq cediiqwcrr rlpildwaph ynlkenllpd tvsgimlavq 61 qvtqglafav lssvhpvfgl ygslfpaiiy aifgmghhva tgtfaltsli sanaverivp 121 qnmqnlttqs ntsvlglsdf emqrihvaaa vsflggviqv amfvlqlgsa tfvvtepvis 181 amttgaathv vtsqvkyllg mkmpyisgpl gffyiyayvf eniksvrlea lllsllsivv 241 lvlvkelneq fkrkikvvlp vdlvliiaas facyctnmen tyglevvghi pqgipsprap 301 pmnilsavit eafgvalvgy vaslalaqgs akkfkysidd nqeflahgls nivssfffci 361 psaaamgrta glystgaktq vacliscifv liviyaigpl lywlpmcvla siivvglkgm 421 liqfrdlkky wnvdkidwgi wvstyvftic faanvgllfg vvctiaivig rfpramtvsi 481 knmkemefkv ktemdsetlq qvkiisinnp lvflnakkfy tdlmnmiqke nacnqplddi 541 skceqntlln slsngncnee asqscpnekc ylildcsgft ffdysgvsml vevymdckgr 601 svdvllahct aslikamtyy gnldsekpif fesvsaaish ihsnkasykl lfdnldlptm 661 ppl // LOCUS NP_001096127 936 aa linear PRI 10-JUL-2020 DEFINITION zinc finger protein 836 [Homo sapiens]. ACCESSION NP_001096127 XP_091886 XP_942361 VERSION NP_001096127.1 DBSOURCE REFSEQ: accession NM_001102657.3 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 936) 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 REFERENCE 2 (residues 1 to 936) 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 AC010320.10 and AC011468.8. On or before Sep 1, 2007 this sequence version replaced XP_091886.10, XP_942361.1. 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 :: SRR1803615.30554.1, SRR1803614.67346.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2155751, SAMN03267753 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..936 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.41" Protein 1..936 /product="zinc finger protein 836" /calculated_mol_wt=107586 Region 8..>48 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 8..47 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" Region 220..240 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(220,223,236,240) /site_type="other" /note="Zn binding site [ion binding]" /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 272..648 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" 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 288..313 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 304..324 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(304,307,320,324) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(309,311,313,315..316,319..320,323,337,339,343..344, 347..348,351,365,367,369,371..372,375..376,379) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 316..341 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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" Region 345..369 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 360..380 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(360,363,376,380) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 372..397 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 388..408 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(388,391,404,408) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 400..425 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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" Region 428..453 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 444..464 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(444,447,460,464) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 457..481 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 472..492 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(472,475,488,492) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 484..509 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 496..904 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 500..520 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(500,503,516,520) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 528..548 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(528,531,544,548) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 541..565 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 556..576 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(556,559,572,576) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 568..593 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 584..604 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(584,587,600,604) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 597..620 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 612..632 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(612,615,628,632) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(617,619,621,623..624,627..628,631,645,647,651..652, 655..656,659,673,675,677,679..680,683..684,687) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 624..649 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 640..660 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(640,643,656,660) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 653..677 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 668..688 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(668,671,684,688) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 696..714 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275370" Region 724..744 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(724,727,740,744) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 752..772 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(752,755,768,772) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(757,759,761,763..764,767..768,771,785,787,791..792, 795..796,799,813,815,817,819..820,823..824,827) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 764..789 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 780..800 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(780,783,796,800) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 793..815 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 808..828 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(808,811,824,828) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 821..843 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 836..856 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(836,839,852,856) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(841,843,845,847..848,851..852,855,869,871,875..876, 879..880,883,897,899,901,903..904,907..908,911) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 849..873 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 864..884 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(864,867,880,884) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 877..899 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 892..912 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(892,895,908,912) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..936 /gene="ZNF836" /coded_by="NM_001102657.3:501..3311" /db_xref="CCDS:CCDS46162.1" /db_xref="GeneID:162962" /db_xref="HGNC:HGNC:34333" ORIGIN 1 maltqgpltf rdvaiefsqe ewksldpvqk alywdvmlen yrnlvflgil pkcmtkelpp 61 ignsntgekc qtvtlerhec ydvenfylre iqknlqdlef qwkdgeinyk evpmtyknnl 121 ngkrgqhsqe dvenkcienq ltlsfqsrlt elqkfqtegk iyecnqsekt vnnsslvspl 181 qrilpsvqtn iskkyenefl qlslptqlek thirekpymc kgcgkafrvs sslinhqmvh 241 ttekpykcne cgkafhrgsl ltihqivhtr gkpyqcgvcg kifrqnsdlv nhrrshtgek 301 pykcnecgks fsqsynlaih qrihtgekpy kcnecgktfk qgscltthqi ihtgekpyqc 361 dicgkvfrqn snlvnhqrih tgekpykcni cgksfsqssn lathqtvhsg nkpykcdecg 421 ktfkrssslt thqiihtgek pytcdvcdkv fsqrsqlarh qrshtgekpy kcnecgkvfs 481 qtshlvghrr ihtgekpykc dkcgkafkqg slltrhkiih trekryqcge cgkvfsensc 541 lvrhlrihtg eqpykcnvcg kvfnysgnls ihkrihtgek pfqcnecgtv frnysclarh 601 lrihtgqkpy kcnvcgkvfn dsgnlsnhkr ihtgekpfqc necgkvfsyy sclarhrkih 661 tgekpykcnd cgkaytqrss ltkhliihtg ekpyncnefg gafiqsskla ryhrnptgek 721 phkcshcgrt fshitgltyh qrrhtgempy kciecgqvfn stsnlarhrr ihtgekpykc 781 necgkvfrhq stlarhrsih tgekpyvcne cgkafrvrsi lvnhqkmhtg dkpykcnecg 841 kafiersklv yhqrnhtgek pykciecgka fgrfsclnkh qmihsgekpy kcnecgksfi 901 srsgltkhqt khtaeslktk fnvekpldvl ltsgfk // LOCUS NP_001354763 1106 aa linear PRI 11-JUL-2020 DEFINITION zinc finger SWIM domain-containing protein 4 isoform 2 [Homo sapiens]. ACCESSION NP_001354763 XP_005260080 VERSION NP_001354763.1 DBSOURCE REFSEQ: accession NM_001367834.2 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 1106) AUTHORS Alleyne D, Witonsky DB, Mapes B, Nakagome S, Sommars M, Hong E, Muckala KA, Di Rienzo A and Kupfer SS. TITLE Colonic transcriptional response to 1alpha,25(OH)2 vitamin D3 in African- and European-Americans JOURNAL J. Steroid Biochem. Mol. Biol. 168, 49-59 (2017) PUBMED 28163244 REMARK GeneRIF: there are inter-ethnic differences for uridine phosphorylase 1 (UPP1) and zinc finger-SWIM containing 4 (ZSWIM4) in response to 1alpha,25(OH)2D3 REFERENCE 2 (residues 1 to 1106) 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 AC020916.8. On Dec 21, 2018 this sequence version replaced XP_005260080.1. 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, SAMEA2142680 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1106 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.13-p13.12" Protein 1..1106 /product="zinc finger SWIM domain-containing protein 4 isoform 2" /note="zinc finger SWIM domain-containing protein 4" /calculated_mol_wt=122987 CDS 1..1106 /gene="ZSWIM4" /coded_by="NM_001367834.2:207..3527" /note="isoform 2 is encoded by transcript variant 2" /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 ellqkgstci tntegwvghp ldpigclcra 541 lleacrleee tltlypdsgp ekrkvayqhv pvpgspgesy lvlalevall glgqqralpe 601 glyaqdkvvr neeqllalle evelderlvq vlrkqaglll eggpfsgfge vlfresvpmh 661 tcarylftal lphdpdlayr lalramrlpi letafpagep hpspldsims nrfprwfilg 721 hletrqcela stmltaakgd pkwlhtvlgs iqqnihspal lfklaqdack tatpvsappd 781 ttllgialel glqvmrmtln vmtwrrremv rwlvscatei gpqalmnimq nwyslftpve 841 aativavtgt thatllrlql dtsrreelwa cartlalqca mkdpqncalp altlceknhs 901 afeaayqivl daaagglgha hlftvaryme hrglplrayk latlalaqls iafnqdshpa 961 vndvlwacsl shslgrhels aivpliirsi hcapmlsdil rrwtlsapgl gplgarraak 1021 plgadraplc qlldaavtay ittshsrlth isprhygdfi eflgkaretf llapdghlqf 1081 sqflenlkqt ykgkkklmll vrerfg // LOCUS NP_775857 322 aa linear PRI 11-JUL-2020 DEFINITION steroid transmembrane transporter SLC22A24 isoform 2 [Homo sapiens]. ACCESSION NP_775857 VERSION NP_775857.2 DBSOURCE REFSEQ: accession NM_173586.3 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 322) AUTHORS Yee SW, Stecula A, Chien HC, Zou L, Feofanova EV, van Borselen M, Cheung KWK, Yousri NA, Suhre K, Kinchen JM, Boerwinkle E, Irannejad R, Yu B and Giacomini KM. TITLE Unraveling the functional role of the orphan solute carrier, SLC22A24 in the transport of steroid conjugates through metabolomic and genome-wide association studies JOURNAL PLoS Genet. 15 (9), e1008208 (2019) PUBMED 31553721 REMARK GeneRIF: Functional genomic studies reveal a previously uncharacterized protein involved in steroid homeostasis, opening up new possibilities for SLC22A24 as a pharmacological target for regulating steroid levels. Publication Status: Online-Only REFERENCE 2 (residues 1 to 322) AUTHORS Agopian AJ, Mitchell LE, Glessner J, Bhalla AD, Sewda A, Hakonarson H and Goldmuntz E. TITLE Genome-wide association study of maternal and inherited loci for conotruncal heart defects JOURNAL PLoS ONE 9 (5), e96057 (2014) PUBMED 24800985 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 322) 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 BC034394.1 and AP001858.4. On Mar 5, 2014 this sequence version replaced NP_775857.1. Summary: SLC22A24 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 (2) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: BC034394.1, ERR279834.129.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2159080 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..322 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11q12.3" Protein 1..322 /product="steroid transmembrane transporter SLC22A24 isoform 2" /note="steroid transmembrane transporter SLC22A24" /calculated_mol_wt=35830 Site 16..36 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N4F4.2)" Region 125..>278 /region_name="MFS" /note="The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of...; cd06174" /db_xref="CDD:119392" Site 146..166 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N4F4.2)" Site 188..208 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N4F4.2)" Site 234..254 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N4F4.2)" CDS 1..322 /gene="SLC22A24" /gene_synonym="NET46" /coded_by="NM_173586.3:443..1411" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS76422.1" /db_xref="GeneID:283238" /db_xref="HGNC:HGNC:28542" /db_xref="MIM:611698" ORIGIN 1 mgfdvlldqv ggmgrfqicl iaffcitnil lfpnivlenf taftpshrcw vplldndtvs 61 dndtgtlskd dllrisipld snlrpqkcqr fihpqwqllh lngtfpntne pdtepcvdgw 121 vydrssflst ivtewdlvce sqslksmvqs lfmagsllgg liyghlsdrv grkiicklcf 181 lqlaisntca afaptflvyc ilrflagfst mtilgntfil slewtlprsr smtimvllcs 241 ysvgqmllgg lafaiqdwhi lqltvstpii vlflsswyeq sphslpvsea mvdierkilt 301 pgicsvsglv lshdvhstyc vt // LOCUS NP_001335710 122 aa linear PRI 11-JUL-2020 DEFINITION CMT1A duplicated region transcript 15 protein isoform 2 [Homo sapiens]. ACCESSION NP_001335710 VERSION NP_001335710.1 DBSOURCE REFSEQ: accession NM_001348781.2 KEYWORDS RefSeq. SOURCE Homo 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 Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR and Birren B. TITLE The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes JOURNAL Genome Res. 11 (6), 1018-1033 (2001) PUBMED 11381029 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC071823.1, AC005224.1, HY197844.1 and AA854007.1. Transcript Variant: This variant (2) uses an alternate splice junction in the 5' end 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 :: BC071823.1, BU567332.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..122 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17p12" Protein 1..122 /product="CMT1A duplicated region transcript 15 protein isoform 2" /note="CMT1A duplicated region transcript 15 protein" /calculated_mol_wt=13017 CDS 1..122 /gene="CDRT15" /coded_by="NM_001348781.2:104..472" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS86577.1" /db_xref="GeneID:146822" /db_xref="HGNC:HGNC:14395" ORIGIN 1 mpkkahpspq tpvarcnkah papgpcaevr alpapaaepe paweeapper alelegapak 61 dqtneelpei tevpesikrr lgrrvpaatp aprgnlllqa wmrvhswasr lfapnvlpgt 121 gp // LOCUS NP_001124527 397 aa linear PRI 11-JUL-2020 DEFINITION histamine H2 receptor isoform 1 [Homo sapiens]. ACCESSION NP_001124527 VERSION NP_001124527.1 DBSOURCE REFSEQ: accession NM_001131055.2 KEYWORDS RefSeq. SOURCE Homo 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 Mommert S, Gregor K, Rossbach K, Schaper K, Witte T, Gutzmer R and Werfel T. TITLE Histamine H2 receptor stimulation upregulates TH2 chemokine CCL17 production in human M2a macrophages JOURNAL J. Allergy Clin. Immunol. 141 (2), 782-785 (2018) PUBMED 28728999 REMARK GeneRIF: Histamine H2 receptor stimulation upregulates TH2 chemokine CCL17 production in human M2a macrophages. REFERENCE 2 (residues 1 to 397) AUTHORS Leary PJ, Kronmal RA, Bluemke DA, Buttrick PM, Jones KL, Kao DP, Kawut SM, Krieger EV, Lima JA, Minobe W, Ralph DD, Tedford RJ, Weiss NS and Bristow MR. TITLE Histamine H2 Receptor Polymorphisms, Myocardial Transcripts, and Heart Failure (from the Multi-Ethnic Study of Atherosclerosis and Beta-Blocker Effect on Remodeling and Gene Expression Trial) JOURNAL Am. J. Cardiol. 121 (2), 256-261 (2018) PUBMED 29191567 REMARK GeneRIF: The presence of a minor allele at rs2241562 was associated with increased HF incidence in Chinese participants. Differences in myocardial HRH2 transcript abundance were seen in participants with dilated cardiomyopathy who responded to beta blockade compared to those who did not. REFERENCE 3 (residues 1 to 397) AUTHORS Yadav M, Singh AK, Kumar H, Rao G, Chakravarti B, Gurjar A, Dogra S, Kushwaha S, Vishwakarma AL, Yadav PN, Datta D, Tripathi AK, Chattopadhyay N, Trivedi AK and Sanyal S. TITLE Epidermal growth factor receptor inhibitor cancer drug gefitinib modulates cell growth and differentiation of acute myeloid leukemia cells via histamine receptors JOURNAL Biochim. Biophys. Acta 1860 (10), 2178-2190 (2016) PUBMED 27180173 REMARK GeneRIF: Pharmacological or genetic modulations of H2 and H4 HRs (H2R and H4R) not only suppressed gefitinib-induced cytostasis and differentiation of AML cells but also blocked EGFR and ERK1/2 inhibition in MDA-MB-231 cells REFERENCE 4 (residues 1 to 397) AUTHORS Werner,K., Neumann,D. and Seifert,R. TITLE High constitutive Akt2 activity in U937 promonocytes: effective reduction of Akt2 phosphorylation by the histamine H2-receptor and the beta2-adrenergic receptor JOURNAL Naunyn Schmiedebergs Arch. Pharmacol. 389 (1), 87-101 (2016) PUBMED 26475619 REMARK GeneRIF: High constitutive Akt2 activity in U937 promonocytes: effective reduction of Akt2 phosphorylation by the histamine H2-receptor and the beta2-adrenergic receptor REFERENCE 5 (residues 1 to 397) AUTHORS He GH, Cai WK, Zhang JB, Ma CY, Yan F, Lu J and Xu GL. TITLE Associations of Polymorphisms in HRH2, HRH3, DAO, and HNMT Genes with Risk of Chronic Heart Failure JOURNAL Biomed Res Int 2016, 1208476 (2016) PUBMED 26989676 REMARK GeneRIF: The T allele of rs3787429 exhibited protective effect against CHF under the dominant and additive models , while, for SNPs in HRH2, DAO, and HNMT, no significant associations were observed in the present study REFERENCE 6 (residues 1 to 397) AUTHORS Smit MJ, Timmerman H, Alewijnse AE, Punin M, van den Nieuwenhof I, Blauw J, van Minnen J and Leurs R. TITLE Visualization of agonist-induced internalization of histamine H2 receptors JOURNAL Biochem. Biophys. Res. Commun. 214 (3), 1138-1145 (1995) PUBMED 7575521 REFERENCE 7 (residues 1 to 397) AUTHORS Traiffort E, Vizuete ML, Tardivel-Lacombe J, Souil E, Schwartz JC and Ruat M. TITLE The guinea pig histamine H2 receptor: gene cloning, tissue expression and chromosomal localization of its human counterpart JOURNAL Biochem. Biophys. Res. Commun. 211 (2), 570-577 (1995) PUBMED 7794271 REFERENCE 8 (residues 1 to 397) AUTHORS Nishi T, Koike T, Oka T, Maeda M and Futai M. TITLE Identification of the promoter region of the human histamine H2-receptor gene JOURNAL Biochem. Biophys. Res. Commun. 210 (2), 616-623 (1995) PUBMED 7755641 REFERENCE 9 (residues 1 to 397) AUTHORS Vannier E and Dinarello CA. TITLE Histamine enhances interleukin (IL)-1-induced IL-6 gene expression and protein synthesis via H2 receptors in peripheral blood mononuclear cells JOURNAL J. Biol. Chem. 269 (13), 9952-9956 (1994) PUBMED 7511596 REFERENCE 10 (residues 1 to 397) AUTHORS Gantz I, Munzert G, Tashiro T, Schaffer M, Wang L, DelValle J and Yamada T. TITLE Molecular cloning of the human histamine H2 receptor JOURNAL Biochem. Biophys. Res. Commun. 178 (3), 1386-1392 (1991) PUBMED 1714721 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC054510.2 and CF147823.1. Summary: Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. Histamine receptor H2 belongs to the family 1 of G protein-coupled receptors. It is an integral membrane protein and stimulates gastric acid secretion. It also regulates gastrointestinal motility and intestinal secretion and is thought to be involved in regulating cell growth and differentiation. Alternatively spliced 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 :: BC054510.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2149004, SAMEA2153031 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..397 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q35.2" Protein 1..397 /product="histamine H2 receptor isoform 1" /note="gastric receptor 1; gastric receptor I" /calculated_mol_wt=44410 mat_peptide 1..359 /product="Histamine H2 receptor. /id=PRO_0000069684" /note="propagated from UniProtKB/Swiss-Prot (P25021.1)" /calculated_mol_wt=40098 Site 4 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P25021.1)" Region 19..299 /region_name="7tmA_Histamine_H2R" /note="histamine subtype H2 receptor, member of the class A family of seven-transmembrane G protein-coupled receptors; cd15051" /db_xref="CDD:320179" Region 20..46 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:320179" Site 23..44 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P25021.1)" Region 53..80 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320179" Site 58..81 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P25021.1)" Region 91..121 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320179" Site 93..114 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P25021.1)" Site order(94,98..99,102..103,176,183,186..187,190,247, 250..251,254,270,274,278) /site_type="other" /note="putative ligand binding site [chemical binding]" /db_xref="CDD:320179" Site 98 /site_type="other" /note="Essential for histamine binding. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P25021.1)" Region 133..153 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320179" Site 135..159 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P25021.1)" Region 179..209 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320179" Site 181..204 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P25021.1)" Site 186 /site_type="other" /note="Essential for tiotidine binding and implicated in H2 selectivity. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P25021.1)" Site 190 /site_type="other" /note="Implicated in histamine binding. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (P25021.1)" Region 227..257 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320179" Site 235..258 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P25021.1)" Region 267..292 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320179" Site 268..289 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P25021.1)" CDS 1..397 /gene="HRH2" /gene_synonym="H2R; HH2R" /coded_by="NM_001131055.2:611..1804" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS47344.1" /db_xref="GeneID:3274" /db_xref="HGNC:HGNC:5183" /db_xref="MIM:142703" ORIGIN 1 mapngtassf cldstackit itvvlavlil itvagnvvvc lavglnrrlr nltncfivsl 61 aitdlllgll vlpfsaiyql sckwsfgkvf cniytsldvm lctasilnlf misldrycav 121 mdplrypvlv tpvrvaislv liwvisitls flsihlgwns rnetskgnht tskckvqvne 181 vyglvdglvt fylpllimci tyyrifkvar dqakrinhis swkaatireh katvtlaavm 241 gafiicwfpy ftafvyrglr gddainevle aivlwlgyan salnpilyaa lnrdfrtgyq 301 qlfccrlanr nshktslrsn asqlsrtqsr eprqqeekpl klqvwsgtev tapqgatdrp 361 wlclpecwsv elthsfihlf ihsfanihpi pttcqel // LOCUS NP_002177 521 aa linear PRI 11-JUL-2020 DEFINITION interleukin-9 receptor isoform 1 precursor [Homo sapiens]. ACCESSION NP_002177 VERSION NP_002177.2 DBSOURCE REFSEQ: accession NM_002186.3 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 521) AUTHORS Raychaudhuri SK, Abria C, Maverakis EM and Raychaudhuri SP. TITLE IL-9 receptor: Regulatory role on FLS and pannus formation JOURNAL Cytokine 111, 58-62 (2018) PUBMED 30114630 REMARK GeneRIF: Thus the IL-9/IL-9R system is a new contributing factor in the cytokine network of psoriatic arthritis and rheumatoid arthritis. REFERENCE 2 (residues 1 to 521) AUTHORS Guggino G, Ciccia F, Di Liberto D, Lo Pizzo M, Ruscitti P, Cipriani P, Ferrante A, Sireci G, Dieli F, Fournie JJ, Giacomelli R and Triolo G. TITLE Interleukin (IL)-9/IL-9R axis drives gammadelta T cells activation in psoriatic arthritis patients JOURNAL Clin. Exp. Immunol. 186 (3), 277-283 (2016) PUBMED 27543964 REMARK GeneRIF: in PsA patients gammadelta T cells activation is driven prevalently by IL-9/IL-9R interaction, and not only by IL-23/IL-23R. Together these findings indicate gammadelta T cells and IL-9 as new players in the pathogenesis of PsA. REFERENCE 3 (residues 1 to 521) AUTHORS Lv X, Feng L, Ge X, Lu K and Wang X. TITLE Interleukin-9 promotes cell survival and drug resistance in diffuse large B-cell lymphoma JOURNAL J. Exp. Clin. Cancer Res. 35 (1), 106 (2016) PUBMED 27364124 REMARK GeneRIF: Results show that silencing of the IL-9R gene alleviates the drug resistance of diffuse large B-cell lymphoma (DLBCL) cell lines that is induced by IL-9 suggesting that IL-9R is involved in chemotherapy drug resistance of DLBCL. Publication Status: Online-Only REFERENCE 4 (residues 1 to 521) AUTHORS Li HJ, Sun QM, Liu LZ, Zhang J, Huang J, Wang CH, Ding R, Song K and Tong Z. TITLE High expression of IL-9R promotes the progression of human hepatocellular carcinoma and indicates a poor clinical outcome JOURNAL Oncol. Rep. 34 (2), 795-802 (2015) PUBMED 26082242 REMARK GeneRIF: The findings indicated that IL-9R was constitutively expressed and exerted a tumor-promoting effect in hepatocellular carcinoma, whose expression level may be a useful biomarker of tumor invasiveness and patient clinical outcome. REFERENCE 5 (residues 1 to 521) AUTHORS Vermeesch JR, Petit P, Kermouni A, Renauld JC, Van Den Berghe H and Marynen P. TITLE The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y JOURNAL Hum. Mol. Genet. 6 (1), 1-8 (1997) PUBMED 9002663 REFERENCE 6 (residues 1 to 521) AUTHORS Demoulin JB, Uyttenhove C, Van Roost E, DeLestre B, Donckers D, Van Snick J and Renauld JC. TITLE A single tyrosine of the interleukin-9 (IL-9) receptor is required for STAT activation, antiapoptotic activity, and growth regulation by IL-9 JOURNAL Mol. Cell. Biol. 16 (9), 4710-4716 (1996) PUBMED 8756628 REFERENCE 7 (residues 1 to 521) AUTHORS Kermouni A, Van Roost E, Arden KC, Vermeesch JR, Weiss S, Godelaine D, Flint J, Lurquin C, Szikora JP, Higgs DR et al. TITLE The IL-9 receptor gene (IL9R): genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of the sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter JOURNAL Genomics 29 (2), 371-382 (1995) PUBMED 8666384 REFERENCE 8 (residues 1 to 521) AUTHORS Kimura Y, Takeshita T, Kondo M, Ishii N, Nakamura M, Van Snick J and Sugamura K. TITLE Sharing of the IL-2 receptor gamma chain with the functional IL-9 receptor complex JOURNAL Int. Immunol. 7 (1), 115-120 (1995) PUBMED 7718508 REFERENCE 9 (residues 1 to 521) AUTHORS Chang MS, Engel G, Benedict C, Basu R and McNinch J. TITLE Isolation and characterization of the human interleukin-9 receptor gene JOURNAL Blood 83 (11), 3199-3205 (1994) PUBMED 8193355 REFERENCE 10 (residues 1 to 521) AUTHORS Renauld JC, Druez C, Kermouni A, Houssiau F, Uyttenhove C, Van Roost E and Van Snick J. TITLE Expression cloning of the murine and human interleukin 9 receptor cDNAs JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89 (12), 5690-5694 (1992) PUBMED 1376929 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from M84747.1 and BC025298.1. This sequence is a reference standard in the RefSeqGene project. On Mar 25, 2003 this sequence version replaced NP_002177.1. Summary: The protein encoded by this gene is a cytokine receptor that specifically mediates the biological effects of interleukin 9 (IL9). The functional IL9 receptor complex requires this protein as well as the interleukin 2 receptor, gamma (IL2RG), a common gamma subunit shared by the receptors of many different cytokines. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins, which connect to different biologic responses. This gene is located at the pseudoautosomal regions of X and Y chromosomes. Genetic studies suggested an association of this gene with the development of asthma. Multiple pseudogenes on chromosome 9, 10, 16, and 18 have been described. Alternatively spliced transcript variants 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 :: M84747.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01820691, SAMN01820693 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..521 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /chromosome="Y" /map="Xq28 and Yq12" Protein 1..521 /product="interleukin-9 receptor isoform 1 precursor" /note="IL-9 receptor" /calculated_mol_wt=52702 sig_peptide 1..40 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q01113.3)" /calculated_mol_wt=4463 mat_peptide 41..521 /product="Interleukin-9 receptor. /id=PRO_0000010911" /note="propagated from UniProtKB/Swiss-Prot (Q01113.3)" /calculated_mol_wt=52702 Site 117 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q01113.3)" Site 156 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q01113.3)" Region 245..249 /region_name="WSXWS motif" /note="propagated from UniProtKB/Swiss-Prot (Q01113.3)" Site 271..291 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q01113.3)" Region 301..309 /region_name="Box 1 motif" /note="propagated from UniProtKB/Swiss-Prot (Q01113.3)" CDS 1..521 /gene="IL9R" /gene_synonym="CD129; IL-9R" /coded_by="NM_002186.3:65..1630" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS14771.4" /db_xref="GeneID:3581" /db_xref="HGNC:HGNC:6030" /db_xref="MIM:300007" ORIGIN 1 mglgrciweg wtlesealrr dmgtwllaci cictcvclgv svtgegqgpr srtftcltnn 61 ilridchwsa pelgqgsspw llftsnqapg gthkcilrgs ectvvlppea vlvpsdnfti 121 tfhhcmsgre qvslvdpeyl prrhvkldpp sdlqsnissg hciltwsisp alepmttlls 181 yelafkkqee aweqaqhrdh ivgvtwlile afeldpgfih earlrvqmat leddvveeer 241 ytgqwsewsq pvcfqapqrq gplippwgwp gntlvavsif llltgptyll fklsprvkri 301 fyqnvpspam ffqplysvhn gnfqtwmgah gagvllsqdc agtpqgalep cvqeatallt 361 cgparpwksv aleeeqegpg trlpgnlsse dvlpagctew rvqtlaylpq edwaptsltr 421 pappdsegsr ssssssssnn nnycalgcyg gwhlsalpgn tqssgpipal acglscdhqg 481 letqqgvawv laghcqrpgl hedlqgmllp svlskarswt f // LOCUS NP_001334999 79 aa linear PRI 11-JUL-2020 DEFINITION protein FAM236A isoform 1 [Homo sapiens]. ACCESSION NP_001334999 VERSION NP_001334999.1 DBSOURCE REFSEQ: accession NM_001348070.2 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 AC234776.4. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: HY187292.1, AA393776.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000611003.2/ ENSP00000490343.2 RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..79 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq13.1" Protein 1..79 /product="protein FAM236A isoform 1" /note="DMRTC1 antisense RNA 1 (non-protein coding); long intergenic non-protein coding RNA 684; protein FAM236A" /calculated_mol_wt=8584 CDS 1..79 /gene="FAM236A" /gene_synonym="DMRTC1-AS1; LINC00684" /coded_by="NM_001348070.2:58..297" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS87765.1" /db_xref="GeneID:100129407" /db_xref="HGNC:HGNC:44268" ORIGIN 1 miftpflppa dlsvfqnvkg lqndpeewva vsdatedpsg gtglprepal lrgswrsrfq 61 ralacftkcf rggyralgi // LOCUS NP_001338043 333 aa linear PRI 11-JUL-2020 DEFINITION heat shock transcription factor, X-linked member 4 [Homo sapiens]. ACCESSION NP_001338043 XP_005274830 XP_005276778 VERSION NP_001338043.1 DBSOURCE REFSEQ: accession NM_001351114.2 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 333) 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 AC244099.2. On or before May 3, 2017 this sequence version replaced XP_005274830.1, XP_005276778.1. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.87666.1, ERR279837.5668.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000457775.3/ ENSP00000489814.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..333 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq28" Protein 1..333 /product="heat shock transcription factor, X-linked member 4" /calculated_mol_wt=37024 Region 83..182 /region_name="HSF_DNA-bind" /note="HSF-type DNA-binding; pfam00447" /db_xref="CDD:306863" CDS 1..333 /gene="HSFX4" /coded_by="NM_001351114.2:73..1074" /db_xref="CCDS:CCDS87786.1" /db_xref="GeneID:101927685" /db_xref="HGNC:HGNC:52398" ORIGIN 1 masqnteqey eaklapsvgg eptsggpsgs spdpnpdsse vldrhedqam sqdpgsqdns 61 ppedrnqrvv nvednhnlfr lsfprklwti veedtfksvs wnddgdavii dkdlfqrevl 121 qrkgaerifk tdnltsfirq lnlygfcktr psnspgnkkm miycnsnfqr dkprlleniq 181 rkdalrntaq qatrvptpkr knlvatrrsl riyhinarke aikmcqqgap svqgpsgtqs 241 frrsgmwskk satrhplgng ppqepngpsw egtsgnvtft ssattwmegt gilsslvysd 301 ngsvmslyni cyyallasls vmspnepsdd eee // LOCUS NP_001013758 1035 aa linear PRI 11-JUL-2020 DEFINITION putative protein FAM47C [Homo sapiens]. ACCESSION NP_001013758 XP_498355 VERSION NP_001013758.1 DBSOURCE REFSEQ: accession NM_001013736.3 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 1035) AUTHORS Chertman W, Arora H, Griswold AJ, Lopategui DM and Ramasamy R. TITLE Whole Exome Sequencing Identifies a Rare Nonsense Mutation in FAM47C as a Possible Cause of Severe Oligospermia in Brothers With Varicocele JOURNAL Urology 129, 71-73 (2019) PUBMED 30922974 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BX842568.3. On Mar 30, 2005 this sequence version replaced XP_498355.1. Summary: This gene encodes a product belonging to a family of proteins with unknown function. The coding sequence of this family member includes several tandemly repeated regions. [provided by RefSeq, Sep 2011]. ##Evidence-Data-START## Transcript is intronless :: AK125992.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000358047.5/ ENSP00000367913.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1035 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xp21.1" Protein 1..1035 /product="putative protein FAM47C" /calculated_mol_wt=115207 Region 1..257 /region_name="FAM47" /note="FAM47 family; pfam14642" /db_xref="CDD:291315" Region <365..509 /region_name="FAM47" /note="FAM47 family; pfam14642" /db_xref="CDD:291315" CDS 1..1035 /gene="FAM47C" /coded_by="NM_001013736.3:46..3153" /db_xref="CCDS:CCDS35227.1" /db_xref="GeneID:442444" /db_xref="HGNC:HGNC:25301" ORIGIN 1 mgdqrpqdrp sspgmdstpw ycdkppskyf akrkhrrlrf ppvdtqnwvf vtegmddfry 61 gcqspedtlv crrdefllpk islrgpqadp ksrkkkllkk aalfsklspa qparkafvee 121 veaqlmtkhp lamypnlged mppdlllqvl kpldperkle dagscegqek ttdeptepgk 181 ypcgefsprp petrvsclpp eppktpvssl rpeppetgvs hlrpqppktq vsslhleppe 241 tgvshlrpep pktqvsslhl eppetgvshl yleppgtgvs hlcpeppktr vshlhreppe 301 tgvpdlclep pksrvshlrp epsetgvshl hpeppktlvs slhpeppetg vshlcpeppe 361 trvsplrqlp peagvshlcp eppktrvppl rpetpkngvs plfpeppktr isnlrseppk 421 igvshlclep pktrgshlrp eppetgvshl rpeppktrvs slhleppetg vshlcpeppe 481 kdvshlrpep pdtgvshlcp eppktrvshl rpepsetgvs hlrpeppkil vsslhqappe 541 ssvshlrpep petgvshlrp eppktrmysl rpeppdtgvs hlcpeppktr vsslppeppe 601 tgvshlcpep petrvshlrp eppetgvshl rpeppktrmy slrpeppntg vshlcpeppk 661 trvsslppep petgvshlcp eppetrvshl rpeppetgvs rlhpeppktr vsslhaeppe 721 srvshlcpep petgvshlrp eppkprvssl rpepletrvs hlrpeppetg vshlhpelpk 781 prvsslhlep pktrrvsslr leppktgrvs slcpeptktg ashlkelfqe gtsstmecvs 841 dslqrrhtsr klrdfkwagd lgvneesiss lfdftpecra tyqdqknkka necssglkys 901 meldemdevk ffsqekdldg kiqnapnshs aqhvkmgyga wylkpklgkk lrsdeplidp 961 klvlekpdep dildglygpi afkdfilskg yempgiiqrl farrgwtyds vktpiqramq 1021 vykykedvtd aseed // LOCUS NP_001365108 481 aa linear PRI 11-JUL-2020 DEFINITION IQ domain-containing protein M isoform 2 [Homo sapiens]. ACCESSION NP_001365108 XP_024310077 VERSION NP_001365108.1 DBSOURCE REFSEQ: accession NM_001378179.1 KEYWORDS RefSeq. SOURCE Homo 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC096756.3, AC093893.2, AC027058.9 and AC108168.4. On Jan 30, 2020 this sequence version replaced XP_024310077.1. 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 :: SRR5189667.150447.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..481 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q31.23" Protein 1..481 /product="IQ domain-containing protein M isoform 2" /note="iQ domain-containing protein M" /calculated_mol_wt=57152 CDS 1..481 /gene="IQCM" /coded_by="NM_001378179.1:394..1839" /note="isoform 2 is encoded by transcript variant 5" /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 ifrdyysktf ktlikkerqp 241 ikpepksqpr ikgtpnktdk ldskvkrigp hieifqvfre rkkfmitpkl irmvtvmqah 301 vrgwlerkrl qrvmtkaldh gpdmkavinm ygrlihrvry rrglwrtrqi lnlaeleewm 361 drkkfyeimf akredwpkie rnelpnffsd cghfptqkqv ddtwdlvhqd gkekyselik 421 kskaiemlft lyppegahvp dstllkstwl rpivngeegy ryivfhlkls egdlylfvfv 481 v // LOCUS NP_001306003 184 aa linear PRI 11-JUL-2020 DEFINITION retina and anterior neural fold homeobox protein 2 [Homo sapiens]. ACCESSION NP_001306003 XP_005259719 VERSION NP_001306003.2 DBSOURCE REFSEQ: accession NM_001319074.4 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 Yang P, Chiang PW, Weleber RG and Pennesi ME. TITLE Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation JOURNAL JAMA Ophthalmol 133 (6), 653-661 (2015) PUBMED 25789692 REMARK GeneRIF: A frameshift heterozygous mutation in RAX2 inherited in an autosomal dominant fashion was associated with mixed cone and rod dysfunction. REFERENCE 2 (residues 1 to 184) 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 184) 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 184) AUTHORS Wang QL, Chen S, Esumi N, Swain PK, Haines HS, Peng G, Melia BM, McIntosh I, Heckenlively JR, Jacobson SG, Stone EM, Swaroop A and Zack DJ. TITLE QRX, a novel homeobox gene, modulates photoreceptor gene expression JOURNAL Hum. Mol. Genet. 13 (10), 1025-1040 (2004) PUBMED 15028672 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC005777.1. On Oct 29, 2019 this sequence version replaced NP_001306003.1. Summary: This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]. Sequence Note:. ##Evidence-Data-START## Transcript exon combination :: BC032512.1, BM083893.1 [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 :: ENST00000555633.3/ ENSP00000450456.3 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..184 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.3" Protein 1..184 /product="retina and anterior neural fold homeobox protein 2" /note="retina and anterior neural fold homeobox like 1; Q50-type retinal homeobox protein; retina and anterior neural fold homeobox-like protein 1" /calculated_mol_wt=19955 Site order(28..32,34,51,57,70,72..73,76..77,79..81,83..84) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Site order(30,33,73,76..77,80) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" Region 31..84 /region_name="Homeobox" /note="Homeobox domain; pfam00046" /db_xref="CDD:365835" CDS 1..184 /gene="RAX2" /gene_synonym="ARMD6; CORD11; QRX; RAXL1" /coded_by="NM_001319074.4:335..889" /db_xref="GeneID:84839" /db_xref="HGNC:HGNC:18286" /db_xref="MIM:610362" ORIGIN 1 mflspgegpa teggglgpge eapkkkhrrn rttfttyqlh qlerafeash ypdvysreel 61 aakvhlpevr vqvwfqnrra kwrrqerles gsgavaaprl peapalpfar ppamslplep 121 wlgpgppavp glprllgpgp glqasfgpha faptfadgfa leeaslrlla kehaqaldra 181 wppa // LOCUS NP_001007531 188 aa linear PRI 11-JUL-2020 DEFINITION CMT1A duplicated region transcript 15 protein isoform 1 [Homo sapiens]. ACCESSION NP_001007531 VERSION NP_001007531.1 DBSOURCE REFSEQ: accession NM_001007530.3 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 188) AUTHORS Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR and Birren B. TITLE The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes JOURNAL Genome Res. 11 (6), 1018-1033 (2001) PUBMED 11381029 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC071823.1, AC005224.1, BC146859.1, HY197844.1 and AA854007.1. On Nov 29, 2004 this sequence version replaced XP_085606.3. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: AW183187.1, AA854007.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000420162.7/ ENSP00000402355.3 RefSeq Select criteria :: based on manual assertion, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..188 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17p12" Protein 1..188 /product="CMT1A duplicated region transcript 15 protein isoform 1" /note="CMT1A duplicated region transcript 15 protein" /calculated_mol_wt=20520 CDS 1..188 /gene="CDRT15" /coded_by="NM_001007530.3:30..596" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS32569.1" /db_xref="GeneID:146822" /db_xref="HGNC:HGNC:14395" ORIGIN 1 mfsccfptsr gccfrnggse slfrrcrrrl iphprrlspv virriqvpqd slgqalagqa 61 tpeiplglql htvlvqeiqe lieaqtlapg pcaevralpa paaepepawe eapperalel 121 egapakdqtn eelpeitevp esikrrlgrr vpaatpaprg nlllqawmrv hswasrlfap 181 nvlpgtgp // LOCUS NP_001361767 233 aa linear PRI 11-JUL-2020 DEFINITION forkhead box L3 [Homo sapiens]. ACCESSION NP_001361767 VERSION NP_001361767.1 DBSOURCE REFSEQ: accession NM_001374838.1 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 AC187653.1. 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 of the orthologous zebrafish transcript, CT642664.1, and based on RNA-Seq alignments from orthologs. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..233 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7p22.3" Protein 1..233 /product="forkhead box L3" /note="forkhead box L1-like" /calculated_mol_wt=25838 Region 31..118 /region_name="Forkhead" /note="Forkhead domain; pfam00250" /db_xref="CDD:365978" Site order(68..69,78,81..82,103) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238016" CDS 1..233 /gene="FOXL3" /coded_by="NM_001374838.1:1..702" /db_xref="GeneID:116033993" /db_xref="HGNC:HGNC:54201" ORIGIN 1 mfdssqypyn cfnydaddyp agssdedkrl trpaysyial iamaiqqspa grvtlsgiyd 61 fimrkfpyyr anqrawqnsi rhnlslnscf vkvprseghe kgkgnywtfa ggceslldlf 121 engnyrrrrr rrgpkregpr gpraggaqgp sgpseppaaq grlapdsage gapgreppas 181 pappgkehpr dlkfsidyil sspdpfpglk ppclaqegry prlenvglhf wtm // LOCUS NP_001138818 1067 aa linear PRI 11-JUL-2020 DEFINITION RNA-binding motif protein, X-linked-like-3 [Homo sapiens]. ACCESSION NP_001138818 VERSION NP_001138818.1 DBSOURCE REFSEQ: accession NM_001145346.2 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 1067) 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 AL589786.8. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000424776.5/ ENSP00000417451.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1067 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq23" Protein 1..1067 /product="RNA-binding motif protein, X-linked-like-3" /note="RNA binding motif protein, X-linked like 3" /calculated_mol_wt=114807 Region <1..>81 /region_name="RRM" /note="RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]; COG0724" /db_xref="CDD:223796" Region 7..86 /region_name="RRM_RBMX_like" /note="RNA recognition motif 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:240828" Site order(9,11,13..17,38,40..43,45..51,53,78,80,82..86) /site_type="other" /note="RNA binding site [nucleotide binding]" /db_xref="CDD:240828" CDS 1..1067 /gene="RBMXL3" /gene_synonym="CXorf55" /coded_by="NM_001145346.2:33..3236" /db_xref="CCDS:CCDS55478.1" /db_xref="GeneID:139804" /db_xref="HGNC:HGNC:26859" ORIGIN 1 mmeadrpekl figglnlktd ekalkaefgk yghiikvflm kdrktnksrg fafvtfespa 61 dakaaardmn gkyldgkaim vaqtikpafk ssrwvpptpg sgsrsrfshr trgggsspqr 121 ppsqgrpddg rgyagyfdlw pyrapmprkr gppprhwasp phkratpssl ahsvgcgmrg 181 kaptvsgqdg ysglqprrwa gpphkravpr sslariggsg mpgkapavwg qdgysgprvr 241 eplppcrdpg dfvpalrdys rryyghssvp dyrplrgdgn qngyrgrdhe ytdhpskgsy 301 replksyggp cgaapvwgtp psygggcrye eyqgnspdac segrssealp vvlpdaysrd 361 hspkaysggr ssssngysrs drygeegcye eyrgrspdah sggrnsssns ygqshhygge 421 gryeeyrgrs hearsggrst dahsrgrsdd aysgghdsss wsdccggggr yeeyqgrsld 481 ansggcspea ysgghdnssw sdrygvgghy eenrghslda nsggrspdth sgghssssns 541 ygqshrygge gryeyrgrsh dahsggcsad aysgghdsss qsnryggggc yeeyrgrsld 601 ansggrspna ysgghdsssw shryggggry eeyrgrslda nsggrspday sgghdssgqs 661 ncyggggrye eyrgrlldan sggrspdays gghdsssqsn ryggggryee yrghsldans 721 ggrspdtysr ghdsssqsdh yggggrslda nssgrlpday sgghdsssrs hryggggrye 781 eyrgrsldan sggrspnays gghnsssrnd pcrgggryee nrghsldans gghspnaysg 841 grdsssnsyd rshryggggh yeeyrgrshd thsrgrspda hsgdhyteay srgrdsfsns 901 ygrsdhygrg gcyeeyqgrs pnaygggrgl nssnnshgrs hryggggrye eyrgpspdah 961 sggrdssiks yglsdryggg ghyeeyqgsl pdaysgdhdr ssnsygrsdr ysrgrdrvgr 1021 pdrglplpme tgspplhdsy srsgcrvprg ggrqggrfer gegrsry // LOCUS NP_001008693 159 aa linear PRI 11-JUL-2020 DEFINITION cystatin-9 precursor [Homo sapiens]. ACCESSION NP_001008693 VERSION NP_001008693.2 DBSOURCE REFSEQ: accession NM_001008693.3 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 159) AUTHORS Eaves-Pyles T, Patel J, Arigi E, Cong Y, Cao A, Garg N, Dhiman M, Pyles RB, Arulanandam B, Miller AL, Popov VL, Soong L, Carlsen ED, Coletta C, Szabo C and Almeida IC. TITLE Immunomodulatory and antibacterial effects of cystatin 9 against Francisella tularensis JOURNAL Mol. Med. 19, 263-275 (2013) PUBMED 23922243 REMARK GeneRIF: The current report is the first to show the immunomodulatory and antimicrobial functions of rCST9 against Francisella tularensis. Publication Status: Online-Only REFERENCE 2 (residues 1 to 159) AUTHORS Frygelius J, Arvestad L, Wedell A and Tohonen V. TITLE Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatins JOURNAL Evol. Dev. 12 (3), 329-342 (2010) PUBMED 20565543 REFERENCE 3 (residues 1 to 159) 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 4 (residues 1 to 159) 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, S10 (2007) PUBMED 17903292 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 159) 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 159) AUTHORS Sun H, Li N, Wang X, Liu S, Chen T, Zhang L, Wan T and Cao X. TITLE Molecular cloning and characterization of a novel cystatin-like molecule, CLM, from human bone marrow stromal cells JOURNAL Biochem. Biophys. Res. Commun. 301 (1), 176-182 (2003) PUBMED 12535658 REMARK GeneRIF: Data report the cloning of a novel human cystatin-like molecule (CLM) from human bone marrow stromal cell (BMSC) cDNA library. COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL121894.26. On Apr 11, 2009 this sequence version replaced NP_001008693.1. Summary: The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted protein that may play a role in hematopoietic differentiation or inflammation. [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 :: AF494536.1, BC137303.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000376971.4/ ENSP00000366170.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..159 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20p11.21" Protein 1..159 /product="cystatin-9 precursor" /note="cystatin-like molecule; testatin" /calculated_mol_wt=14943 sig_peptide 1..28 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3210 Region 44..>122 /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:324347" CDS 1..159 /gene="CST9" /gene_synonym="CLM; CTES7A" /coded_by="NM_001008693.3:54..533" /db_xref="CCDS:CCDS33450.1" /db_xref="GeneID:128822" /db_xref="HGNC:HGNC:13261" /db_xref="MIM:616543" ORIGIN 1 msspqrrkam pwalslllmg fqllvtyawc seeemggnnk ivqdpmflat vefalntfnv 61 qskeehayrl lrvlsswred smdrkwrgkm vfsmnlqlrq tvcrkfeddi dncpfqesle 121 lnnvrqgisf pqvhscgccm gcgvgtgaad kaiprdkgk // LOCUS NP_001352239 267 aa linear PRI 11-JUL-2020 DEFINITION protein PERCC1 [Homo sapiens]. ACCESSION NP_001352239 XP_011521082 VERSION NP_001352239.1 DBSOURCE REFSEQ: accession NM_001365310.2 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 267) AUTHORS Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y and Pennacchio LA. TITLE Noncoding deletions reveal a gene that is critical for intestinal function JOURNAL Nature 571 (7763), 107-111 (2019) PUBMED 31217582 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL032819.32. On Aug 16, 2018 this sequence version replaced XP_011521082.1. 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 :: ENST00000640283.2/ ENSP00000492108.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..267 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p13.3" Protein 1..267 /product="protein PERCC1" /note="proline and glutamage-rich protein with a coiled coil domain; protein LOC105371045" /calculated_mol_wt=29081 CDS 1..267 /gene="PERCC1" /gene_synonym="DIAR11; gs104; ICR" /coded_by="NM_001365310.2:79..882" /db_xref="GeneID:105371045" /db_xref="HGNC:HGNC:52293" /db_xref="MIM:618656" ORIGIN 1 maagvirplc dfqlpllrhh pflpsdpepp etseeeeeee eeeeeeegeg eglggcgril 61 pssgraeate eaapegpgsp etplqllrfs elisddirry fgrkdkgqdp dacdvyadsr 121 pprstarely yadlvrlarg gslededtpe prvpqgqvcr pglsgdraqp lgplaelfdy 181 glqqywgsra aagwsltler kyghitpmaq rklppsfwke ptpsplgllh pgtpdfsdll 241 aswsteacpe lpgrgtpale garpaea // LOCUS NP_001354277 139 aa linear PRI 11-JUL-2020 DEFINITION small integral membrane protein 34A [Homo sapiens]. ACCESSION NP_001354277 VERSION NP_001354277.1 DBSOURCE REFSEQ: accession NM_001367348.2 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 AP000322.2. 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 :: BC049386.1, BM923762.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000450895.2/ ENSP00000397039.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..139 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21q22.12" Protein 1..139 /product="small integral membrane protein 34A" /calculated_mol_wt=14876 Site 46..66 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A8MWV9.1)" CDS 1..139 /gene="SMIM34A" /coded_by="NM_001367348.2:113..532" /db_xref="GeneID:388820" /db_xref="HGNC:HGNC:39601" ORIGIN 1 mewakwtphe asnqtqastl lglllgdhte grndtnstra lkvpdgtsaa wyiltiigiy 61 avifvfrlas nilrkndksl edvyysnlts elkmtglqgk vakcstlsis nravlqpcqa 121 hlgakggssg pqtatpetp // LOCUS NP_001338278 265 aa linear PRI 12-JUL-2020 DEFINITION putative speedy protein E11 [Homo sapiens]. ACCESSION NP_001338278 XP_006716273 XP_016885939 VERSION NP_001338278.1 DBSOURCE REFSEQ: accession NM_001351349.2 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 AC211476.5. On or before May 6, 2017 this sequence version replaced XP_006716273.1, XP_016885939.1. 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. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..265 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q11.23" Protein 1..265 /product="putative speedy protein E11" /calculated_mol_wt=31310 Region 110..261 /region_name="Spy1" /note="Cell cycle regulatory protein; pfam11357" /db_xref="CDD:371488" CDS 1..265 /gene="SPDYE11" /coded_by="NM_001351349.2:576..1373" /db_xref="GeneID:100996746" /db_xref="HGNC:HGNC:51507" ORIGIN 1 mgqilgkimm shqpqpqeer spqrstsgyp lqevvddevs gpsapgvdps pprrslgwkr 61 krecldesdd epekelapep eetwvaetlc glkmkakrrr vslvlpeyye afnrlledpv 121 ikrllawdkd lrvsdkylla mviayfsrag lpswqyqrih fflalyland meeddeapkq 181 nifyflyeet rshipllsel wfqlcrymnp rarkncsqia lfrkyrfhff csmrcrawvs 241 leeleeiqay dpehwvward rahls // LOCUS NP_001297066 1161 aa linear PRI 12-JUL-2020 DEFINITION nuclear pore complex-interacting protein family member B11 [Homo sapiens]. ACCESSION NP_001297066 VERSION NP_001297066.2 DBSOURCE REFSEQ: accession NM_001310137.3 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 1161) 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 AC025279.6. On May 6, 2020 this sequence version replaced NP_001297066.1. 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## RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1161 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p11.2" Protein 1..1161 /product="nuclear pore complex-interacting protein family member B11" /note="hepatitis B virus pre-pre-S promoter DNA-binding protein; pps22-1 protein; NPIP-like locus" /calculated_mol_wt=129078 Site 63..87 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (E5RHQ5.1)" CDS 1..1161 /gene="NPIPB11" /gene_synonym="NPIP" /coded_by="NM_001310137.3:582..4067" /db_xref="GeneID:728888" /db_xref="HGNC:HGNC:37453" ORIGIN 1 mvklsivltp qflshdqgql tkelqqhvks vtcpceylrk vintladhhh rgtdfggspw 61 lhiiiafpts ykvvitlwiv ylwvsllkti fwsrnghdgs tdvqqrawrs nrrrqeglrs 121 icmhtkkrvs sfrgnkiglk dvitlrrhve tkvrakirkr kvttkinrhd kingkrktar 181 kqkmfqraqe lrrraedyhk ckippsarka lcnwvrmaaa ehrhssglpy wpyltaetlk 241 nrmghqpppp tqqhcitdns lslktplecl ltplppsadd nlktppecll tplppsaddn 301 lktppecllt plppsappsa ppsaddnlkt raecllhplp psaddnlktp serqltplpp 361 sappsaddni kttaerlrgp lppsaddnlk tpserqltpl ppsappsadd niktpaehlr 421 gplppsaddn lktpserqlt plppsappsa ddniktpaer lrgplppsad dnlktpserq 481 ltplppsapp saddniktpa ehlrgplpps addnlktpse rqltplppsa ppsaddnikt 541 taehlrgplp psaddnlktp serqltplpp sappsaddni ktpaehlqfr fhpqrmiisr 601 dlpsvsslpf hpqlhpqqmi isryllsicg frfhrqrmii srhlpsvssl pfhpqlhpqq 661 miisrhlpsv cggrfhpqpm iisrhlpsvs slpfhpqlhp qqmiisrhlp svcggrfhpq 721 pmiisrhlps vsslpfhpql hpqqmiisrh lpsvcggrfh pqpmiisrhl psvsslpfhp 781 qlhpqqmiis rhlpsvcggr fhpqpmiisr hlpsvsslpf hpqlhpqqmi isrhlpsvcg 841 grfhpqpmii srhlpsvssl pfhpqlhpqq miisrhlpsv cgerlwvplp psaddnlktp 901 skrqltplpp sappsaddni ktpaerlrgp lppsaddnlk tpskrqltpl ppsappsadd 961 niktpaerlr gplppsaddn lktpserqlt plppsappsa ddniktpaer lrgplppsad 1021 dnlktpserq ltplppsapt saddniktpa erlrgplpps addnlktppl atqeaeaekp 1081 rkpkrqraae mepppepkrr rvgdvepsrk pkrrraadve psspepkrrr vgdvepsrkp 1141 krrraadvep sspepkrrrl s // LOCUS NP_002166 189 aa linear PRI 19-JUL-2020 DEFINITION interferon alpha-21 precursor [Homo sapiens]. ACCESSION NP_002166 VERSION NP_002166.2 DBSOURCE REFSEQ: accession NM_002175.2 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 189) AUTHORS Kalpana B, Murthy DK and Balakrishna N. TITLE 9p21.3 coronary artery disease risk locus and interferon alpha 21: Association study in an Asian Indian population JOURNAL Indian Heart J 71 (6), 476-480 (2019) PUBMED 32248921 REMARK GeneRIF: IFNA21 may be involved in inflammatory processes in an age-dependent manner and in progression of coronary artery disease. Several 9p21 SNPs may modulate inflammatory processes mediated by IFNA21 and may, therefore, contribute to pathophysiology of coronary artery disease. REFERENCE 2 (residues 1 to 189) AUTHORS Vazquez N, Schmeisser H, Dolan MA, Bekisz J, Zoon KC and Wahl SM. TITLE Structural variants of IFNalpha preferentially promote antiviral functions JOURNAL Blood 118 (9), 2567-2577 (2011) PUBMED 21757613 REMARK GeneRIF: Structural AA changes in the C-helix interacting with IFNAlphaR1 may change the signaling dynamics leading to elevated APOBEC3 & lower IDO by an engineered mutant derived from the amino-terminal region of IFNalpha21b and the COOH-terminus from IFNalpha2c. REFERENCE 3 (residues 1 to 189) AUTHORS Yang XR, Liang X, Pfeiffer RM, Wheeler W, Maeder D, Burdette L, Yeager M, Chanock S, Tucker MA and Goldstein AM. TITLE Associations of 9p21 variants with cutaneous malignant melanoma, nevi, and pigmentation phenotypes in melanoma-prone families with and without CDKN2A mutations JOURNAL Fam. Cancer 9 (4), 625-633 (2010) PUBMED 20574843 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (residues 1 to 189) AUTHORS Silva LK, Blanton RE, Parrado AR, Melo PS, Morato VG, Reis EA, Dias JP, Castro JM, Vasconcelos PF, Goddard KA, Barreto ML, Reis MG and Teixeira MG. TITLE Dengue hemorrhagic fever is associated with polymorphisms in JAK1 JOURNAL Eur. J. Hum. Genet. 18 (11), 1221-1227 (2010) PUBMED 20588308 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (residues 1 to 189) 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 189) AUTHORS Mo XY, Ma W, Zhang Y, Zhao H, Deng Y, Yuan W, Wang Y, Li Y, Zhu C, Liu M and Wu X. TITLE Microarray analyses of differentially expressed human genes and biological processes in ECV304 cells infected with rubella virus JOURNAL J. Med. Virol. 79 (11), 1783-1791 (2007) PUBMED 17854033 REFERENCE 7 (residues 1 to 189) 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 8 (residues 1 to 189) 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 9 (residues 1 to 189) AUTHORS Gren,E., Berzin,V., Jansone,I., Tsimanis,A., Vishnevsky,Y. and Apsalons,U. TITLE Novel human leukocyte interferon subtype and structural comparison of alpha interferon genes JOURNAL J. Interferon Res. 4 (4), 609-617 (1984) PUBMED 6548765 REFERENCE 10 (residues 1 to 189) AUTHORS Goeddel,D.V., Leung,D.W., Dull,T.J., Gross,M., Lawn,R.M., McCandliss,R., Seeburg,P.H., Ullrich,A., Yelverton,E. and Gray,P.W. TITLE The structure of eight distinct cloned human leukocyte interferon cDNAs JOURNAL Nature 290 (5801), 20-26 (1981) PUBMED 6163083 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL390882.12. This sequence is a reference standard in the RefSeqGene project. On Mar 12, 2008 this sequence version replaced NP_002166.1. Summary: This gene is a member of the alpha interferon gene cluster on the short arm of chromosome 9. Interferons are cytokines produced in response to viral infection that mediate the immune response and interfere with viral replication. The encoded protein is a type I interferon and may play a specific role in the antiviral response to rubella virus. [provided by RefSeq, Sep 2011]. Sequence Note: This RefSeq record was created from 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. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000380225.1/ ENSP00000369574.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..189 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9p21.3" Protein 1..189 /product="interferon alpha-21 precursor" /note="leukocyte interferon protein; IFN-alpha-21; interferon alpha-F" /calculated_mol_wt=19312 sig_peptide 1..23 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2447 mat_peptide 24..189 /product="Interferon alpha-21. /id=PRO_0000016370" /note="propagated from UniProtKB/Swiss-Prot (P01568.2)" /calculated_mol_wt=19312 Region 26..185 /region_name="Interferon" /note="Interferon alpha/beta domain; pfam00143" /db_xref="CDD:306620" Site order(28..29,32,35..36,39,42..43,100..101,103..104, 106..107,110,113..114,117..118,121) /site_type="other" /note="putative IFNAR-1 binding site" /db_xref="CDD:238047" Site order(53..60,62..64,70..71,141..142,144..145,148..149, 151..152,155..160) /site_type="other" /note="putative IFNAR-2 binding site" /db_xref="CDD:238047" Site 101 /site_type="other" /note="N-glycosylation site [posttranslational modification]" /db_xref="CDD:238047" CDS 1..189 /gene="IFNA21" /gene_synonym="IFN-alphaI; LeIF F; leIF-F" /coded_by="NM_002175.2:49..618" /db_xref="CCDS:CCDS6497.1" /db_xref="GeneID:3452" /db_xref="HGNC:HGNC:5424" /db_xref="MIM:147584" ORIGIN 1 malsfsllma vlvlsyksic slgcdlpqth slgnrralil laqmgrispf sclkdrhdfg 61 fpqeefdgnq fqkaqaisvl hemiqqtfnl fstkdssatw eqsllekfst elnqqlndle 121 acviqevgve etplmnvdsi lavkkyfqri tlyltekkys pcawevvrae imrsfslski 181 fqerlrrke // LOCUS NP_001278210 559 aa linear PRI 19-JUL-2020 DEFINITION forkhead box protein O6 [Homo sapiens]. ACCESSION NP_001278210 XP_002342143 XP_011547023 VERSION NP_001278210.2 DBSOURCE REFSEQ: accession NM_001291281.3 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 559) AUTHORS Zhong Y, Hu X and Miao L. TITLE Isoflurane preconditioning protects hepatocytes from oxygen glucose deprivation injury by regulating FoxO6 JOURNAL J. Biosci. 44 (6) (2019) PUBMED 31894125 REMARK GeneRIF: FoxO6 regulated nuclear factor erythroid 2-related factor (Nrf2) expression via c-Myc after 3% isoflurane preconditioning and OGD exposure. Thus, isoflurane preconditioning prevented OGD-induced injury in LO2 cells by modulating FoxO6, c-Myc, and Nrf2 signaling. REFERENCE 2 (residues 1 to 559) AUTHORS Zhou Z, Liu J, Bi C, Chen L, Jiao Y and Cui L. TITLE Knockdown of FOXO6 inhibits high glucose-induced oxidative stress and apoptosis in retinal pigment epithelial cells JOURNAL J. Cell. Biochem. 120 (6), 9716-9723 (2019) PUBMED 30548643 REMARK GeneRIF: suppression of FOXO6 protects ARPE-19 cells from HG-induced oxidative stress and apoptosis, which is in part mediated by the activation of Akt/Nrf2 pathway. REFERENCE 3 (residues 1 to 559) AUTHORS Zuo X, Chen Z, Cai J, Gao W, Zhang Y, Han G, Pu L, Wu Z, You W, Qin J, Dai X, Shen H, Wu J and Wang X. TITLE 5-Hydroxytryptamine Receptor 1D Aggravates Hepatocellular Carcinoma Progression Through FoxO6 in AKT-Dependent and Independent Manners JOURNAL Hepatology 69 (5), 2031-2047 (2019) PUBMED 30561038 REMARK GeneRIF: downstream effector in 5-HT1D-induced hepatocellular carcinoma progression REFERENCE 4 (residues 1 to 559) AUTHORS Miao Z, Guo X and Tian L. TITLE The long noncoding RNA NORAD promotes the growth of gastric cancer cells by sponging miR-608 JOURNAL Gene 687, 116-124 (2019) PUBMED 30453063 REMARK GeneRIF: High FOXO6 expression is associated with gastric cancer. REFERENCE 5 (residues 1 to 559) AUTHORS Li Q, Tang H, Hu F and Qin C. TITLE Silencing of FOXO6 inhibits the proliferation, invasion, and glycolysis in colorectal cancer cells JOURNAL J. Cell. Biochem. 120 (3), 3853-3860 (2019) PUBMED 30321450 REMARK GeneRIF: The results indicated that FOXO6 knockdown inhibited colorectal cancer cell proliferation, migration, invasion, and glycolysis via the PI3K/Akt/mTOR pathway. REFERENCE 6 (residues 1 to 559) AUTHORS Kim DH, Perdomo G, Zhang T, Slusher S, Lee S, Phillips BE, Fan Y, Giannoukakis N, Gramignoli R, Strom S, Ringquist S and Dong HH. TITLE FoxO6 integrates insulin signaling with gluconeogenesis in the liver JOURNAL Diabetes 60 (11), 2763-2774 (2011) PUBMED 21940782 REMARK GeneRIF: investigation of role of FoxO6 in liver: Data suggest that a FoxO6-dependent pathway in hepatocytes orchestrates insulin regulation of gluconeogenesis. REFERENCE 7 (residues 1 to 559) AUTHORS Tzivion G, Dobson M and Ramakrishnan G. TITLE FoxO transcription factors; Regulation by AKT and 14-3-3 proteins JOURNAL Biochim. Biophys. Acta 1813 (11), 1938-1945 (2011) PUBMED 21708191 REMARK GeneRIF: Studies indictet that the mammalian FoxO family consists of FoxO1, 3, 4 and 6 and are regulated by by AKT and 14-3-3 proteins. Review article REFERENCE 8 (residues 1 to 559) 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 9 (residues 1 to 559) AUTHORS Kleindorp R, Flachsbart F, Puca AA, Malovini A, Schreiber S and Nebel A. TITLE Candidate gene study of FOXO1, FOXO4, and FOXO6 reveals no association with human longevity in Germans JOURNAL Aging Cell 10 (4), 622-628 (2011) PUBMED 21388494 REMARK GeneRIF: gene study of FOXO6, reveals no association with human longevity in Germans REFERENCE 10 (residues 1 to 559) AUTHORS Jacobs FM, van der Heide LP, Wijchers PJ, Burbach JP, Hoekman MF and Smidt MP. TITLE FoxO6, a novel member of the FoxO class of transcription factors with distinct shuttling dynamics JOURNAL J. Biol. Chem. 278 (38), 35959-35967 (2003) PUBMED 12857750 REMARK GeneRIF: cloning and characterization; structural and functional properties related to gene regulation COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from FO681542.2. On or before Jun 25, 2015 this sequence version replaced XP_011547023.1, NP_001278210.1. 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 :: KY243080.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA1968832 [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..559 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p34.2" Protein 1..559 /product="forkhead box protein O6" /calculated_mol_wt=57071 Region 88..168 /region_name="FH" /note="Forkhead (FH), also known as a 'winged helix'. FH is named for the Drosophila fork head protein, a transcription factor which promotes terminal rather than segmental development. This family of transcription factor domains, which bind to B-DNA as...; cd00059" /db_xref="CDD:238016" Site order(124..125,139,142..143,161) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238016" Site 184 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q70KY4; propagated from UniProtKB/Swiss-Prot (A8MYZ6.1)" Region 358..>382 /region_name="FOXO_KIX_bdg" /note="KIX-binding domain of forkhead box O, CR2; pfam16675" /db_xref="CDD:318810" Region 499..537 /region_name="FOXO-TAD" /note="Transactivation domain of FOXO protein family; pfam16676" /db_xref="CDD:318811" CDS 1..559 /gene="FOXO6" /coded_by="NM_001291281.3:498..2177" /db_xref="GeneID:100132074" /db_xref="HGNC:HGNC:24814" /db_xref="MIM:611457" ORIGIN 1 maaklrahqv dvdpdfapqs rprsctwplp qpdlagdedg algagvaega edcgperrat 61 apamapappl gaevgplrka kssrrnawgn lsyadlitka iesapdkrlt lsqiydwmvr 121 yvpyfkdkgd snssagwkns irhnlslhtr firvqnegtg ksswwmlnpe ggktgktprr 181 ravsmdngak flrikgkask kkqlqapers pddsspsapa pgpvpaaakw aaspashasd 241 dyeawadfrg ggrpllgeaa eleddealea lapssplmyp spasalspal gsrcpgelpr 301 laelggplgl hggggaglpe glldgaqday gpraragtpa yfggckggay gggggfgppa 361 mgalrrlpmq tiqenkqasf vpaaapfrpg alpallpppp paprpgpvlg apgelalaga 421 aaaypgkgaa pyappapsrs alahpislmt lpgeagaagl apsghaaafg gppgglllda 481 lpgpyaaaaa gplgaapdrf padldldmfs gslecdvesi ilndfmdsde mdfnfdsalp 541 ppppglagap ppnqswvpg // LOCUS NP_073626 177 aa linear PRI 19-JUL-2020 DEFINITION interleukin-25 isoform 1 precursor [Homo sapiens]. ACCESSION NP_073626 VERSION NP_073626.1 DBSOURCE REFSEQ: accession NM_022789.3 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 177) AUTHORS Zhang Y, Zhao C, Zhao X, Kong Q, Ding M, Han Y, Ma X and Cheng L. TITLE Interleukin-25 in sputum as a marker of airway inflammation in children asthma JOURNAL Sci China Life Sci 62 (12), 1605-1608 (2019) PUBMED 31641990 REMARK GeneRIF: Found that IL25 levels in sputum and plasma were elevated in children with uncontrolled asthma having a history of several mild-to-moderate attacks during the previous year compared with healthy controls and children with well-controlled asthma due to the use of antiasthmatic drugs. REFERENCE 2 (residues 1 to 177) AUTHORS Selvaraja M, Abdullah M, Arip M, Chin VK, Shah A and Amin Nordin S. TITLE Elevated interleukin-25 and its association to Th2 cytokines in systemic lupus erythematosus with lupus nephritis JOURNAL PLoS ONE 14 (11), e0224707 (2019) PUBMED 31697750 REMARK GeneRIF: IL-25 and its associated Th2 cytokines (IL-9 and IL-10) may be involved in Systemic lupus erythematosus pathogenesis. Publication Status: Online-Only REFERENCE 3 (residues 1 to 177) AUTHORS Li Y, Wang R, Liu S, Liu J, Pan W, Li F, Li J and Meng D. TITLE Interleukin-25 is upregulated in patients with systemic lupus erythematosus and ameliorates murine lupus by inhibiting inflammatory cytokine production JOURNAL Int. Immunopharmacol. 74, 105680 (2019) PUBMED 31200339 REMARK GeneRIF: IL-25 plays a potent immunosuppressive role in the pathogenesis of systemic lupus erythematosus by suppressing the production of inflammatory cytokines REFERENCE 4 (residues 1 to 177) AUTHORS Senra L, Mylonas A, Kavanagh RD, Fallon PG, Conrad C, Borowczyk-Michalowska J, Wrobel LJ, Kaya G, Yawalkar N, Boehncke WH and Brembilla NC. TITLE IL-17E (IL-25) Enhances Innate Immune Responses during Skin Inflammation JOURNAL J. Invest. Dermatol. 139 (8), 1732-1742 (2019) PUBMED 30738055 REMARK GeneRIF: In humans, IL-17E promotes the recruitment of neutrophils via activation of macrophages in a p38-dependent mechanism. In addition, IL-17E is up-regulated in neutrophil-rich inflammatory skin diseases, such as pyoderma gangrenosum and acute generalized exanthematous pustulosis. REFERENCE 5 (residues 1 to 177) AUTHORS Xu X, Luo S, Li B, Dai H and Zhang J. TITLE Feature Article: IL-25 contributes to lung fibrosis by directly acting on alveolar epithelial cells and fibroblasts JOURNAL Exp. Biol. Med. (Maywood) 244 (9), 770-780 (2019) PUBMED 30997832 REMARK GeneRIF: contributes to lung fibrosis by directly acting on alveolar epithelial cells and fibroblasts REFERENCE 6 (residues 1 to 177) 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 177) AUTHORS Kim MR, Manoukian R, Yeh R, Silbiger SM, Danilenko DM, Scully S, Sun J, DeRose ML, Stolina M, Chang D, Van GY, Clarkin K, Nguyen HQ, Yu YB, Jing S, Senaldi G, Elliott G and Medlock ES. TITLE Transgenic overexpression of human IL-17E results in eosinophilia, B-lymphocyte hyperplasia, and altered antibody production JOURNAL Blood 100 (7), 2330-2340 (2002) PUBMED 12239140 REMARK GeneRIF: Transgenic overexpression from humans into mice results in eosinophilia, B-lymphocyte hyperplasia, and altered antibody production. REFERENCE 8 (residues 1 to 177) AUTHORS Pan G, French D, Mao W, Maruoka M, Risser P, Lee J, Foster J, Aggarwal S, Nicholes K, Guillet S, Schow P and Gurney AL. TITLE Forced expression of murine IL-17E induces growth retardation, jaundice, a Th2-biased response, and multiorgan inflammation in mice JOURNAL J. Immunol. 167 (11), 6559-6567 (2001) PUBMED 11714825 REMARK GeneRIF: Overexpression of IL-17E up-regulates gene expression of Th2 cytokines and induces growth retardation, jaundice, and multiorgan inflammation in a transgenic mouse model. REFERENCE 9 (residues 1 to 177) AUTHORS Fort MM, Cheung J, Yen D, Li J, Zurawski SM, Lo S, Menon S, Clifford T, Hunte B, Lesley R, Muchamuel T, Hurst SD, Zurawski G, Leach MW, Gorman DM and Rennick DM. TITLE IL-25 induces IL-4, IL-5, and IL-13 and Th2-associated pathologies in vivo JOURNAL Immunity 15 (6), 985-995 (2001) PUBMED 11754819 REFERENCE 10 (residues 1 to 177) AUTHORS Lee J, Ho WH, Maruoka M, Corpuz RT, Baldwin DT, Foster JS, Goddard AD, Yansura DG, Vandlen RL, Wood WI and Gurney AL. TITLE IL-17E, a novel proinflammatory ligand for the IL-17 receptor homolog IL-17Rh1 JOURNAL J. Biol. Chem. 276 (2), 1660-1664 (2001) PUBMED 11058597 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF305200.1 and AL049829.4. Summary: The protein encoded by this gene is a cytokine that shares sequence similarity with interleukin 17. This cytokine can induce NF-kappaB activation, and stimulate the production of interleukin 8. Both this cytokine and interleukin 17B are ligands for the cytokine receptor IL17BR. Studies of a similar gene in mice suggest that this cytokine may be a pro-inflammatory cytokine favoring the Th2-type immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. Transcript Variant: This variant (1) represents the longer transcript and encodes a 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 :: AF305200.1, BC069565.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..177 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="14" /map="14q11.2" Protein 1..177 /product="interleukin-25 isoform 1 precursor" /note="interleukin-17E" /calculated_mol_wt=16742 sig_peptide 1..32 /calculated_mol_wt=3606 mat_peptide 33..177 /product="interleukin-25 isoform 1" /calculated_mol_wt=16742 Region 85..171 /region_name="IL17" /note="Interleukin-17; pfam06083" /db_xref="CDD:310578" Site 136 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H293.1)" CDS 1..177 /gene="IL25" /gene_synonym="IL17E" /coded_by="NM_022789.3:259..792" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS9597.1" /db_xref="GeneID:64806" /db_xref="HGNC:HGNC:13765" /db_xref="MIM:605658" ORIGIN 1 mrerprlged sslislflqv vaflamvmgt htyshwpscc pskgqdtsee llrwstvpvp 61 pleparpnrh pescrasedg plnsraispw ryeldrdlnr lpqdlyharc lcphcvslqt 121 gshmdprgns ellyhnqtvf yrrpchgekg thkgyclerr lyrvslacvc vrprvmg // LOCUS NP_758525 161 aa linear PRI 19-JUL-2020 DEFINITION interleukin-25 isoform 2 precursor [Homo sapiens]. ACCESSION NP_758525 VERSION NP_758525.1 DBSOURCE REFSEQ: accession NM_172314.1 KEYWORDS RefSeq. SOURCE Homo 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 Zhang Y, Zhao C, Zhao X, Kong Q, Ding M, Han Y, Ma X and Cheng L. TITLE Interleukin-25 in sputum as a marker of airway inflammation in children asthma JOURNAL Sci China Life Sci 62 (12), 1605-1608 (2019) PUBMED 31641990 REMARK GeneRIF: Found that IL25 levels in sputum and plasma were elevated in children with uncontrolled asthma having a history of several mild-to-moderate attacks during the previous year compared with healthy controls and children with well-controlled asthma due to the use of antiasthmatic drugs. REFERENCE 2 (residues 1 to 161) AUTHORS Selvaraja M, Abdullah M, Arip M, Chin VK, Shah A and Amin Nordin S. TITLE Elevated interleukin-25 and its association to Th2 cytokines in systemic lupus erythematosus with lupus nephritis JOURNAL PLoS ONE 14 (11), e0224707 (2019) PUBMED 31697750 REMARK GeneRIF: IL-25 and its associated Th2 cytokines (IL-9 and IL-10) may be involved in Systemic lupus erythematosus pathogenesis. Publication Status: Online-Only REFERENCE 3 (residues 1 to 161) AUTHORS Li Y, Wang R, Liu S, Liu J, Pan W, Li F, Li J and Meng D. TITLE Interleukin-25 is upregulated in patients with systemic lupus erythematosus and ameliorates murine lupus by inhibiting inflammatory cytokine production JOURNAL Int. Immunopharmacol. 74, 105680 (2019) PUBMED 31200339 REMARK GeneRIF: IL-25 plays a potent immunosuppressive role in the pathogenesis of systemic lupus erythematosus by suppressing the production of inflammatory cytokines REFERENCE 4 (residues 1 to 161) AUTHORS Senra L, Mylonas A, Kavanagh RD, Fallon PG, Conrad C, Borowczyk-Michalowska J, Wrobel LJ, Kaya G, Yawalkar N, Boehncke WH and Brembilla NC. TITLE IL-17E (IL-25) Enhances Innate Immune Responses during Skin Inflammation JOURNAL J. Invest. Dermatol. 139 (8), 1732-1742 (2019) PUBMED 30738055 REMARK GeneRIF: In humans, IL-17E promotes the recruitment of neutrophils via activation of macrophages in a p38-dependent mechanism. In addition, IL-17E is up-regulated in neutrophil-rich inflammatory skin diseases, such as pyoderma gangrenosum and acute generalized exanthematous pustulosis. REFERENCE 5 (residues 1 to 161) AUTHORS Xu X, Luo S, Li B, Dai H and Zhang J. TITLE Feature Article: IL-25 contributes to lung fibrosis by directly acting on alveolar epithelial cells and fibroblasts JOURNAL Exp. Biol. Med. (Maywood) 244 (9), 770-780 (2019) PUBMED 30997832 REMARK GeneRIF: contributes to lung fibrosis by directly acting on alveolar epithelial cells and fibroblasts REFERENCE 6 (residues 1 to 161) 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 161) AUTHORS Kim MR, Manoukian R, Yeh R, Silbiger SM, Danilenko DM, Scully S, Sun J, DeRose ML, Stolina M, Chang D, Van GY, Clarkin K, Nguyen HQ, Yu YB, Jing S, Senaldi G, Elliott G and Medlock ES. TITLE Transgenic overexpression of human IL-17E results in eosinophilia, B-lymphocyte hyperplasia, and altered antibody production JOURNAL Blood 100 (7), 2330-2340 (2002) PUBMED 12239140 REMARK GeneRIF: Transgenic overexpression from humans into mice results in eosinophilia, B-lymphocyte hyperplasia, and altered antibody production. REFERENCE 8 (residues 1 to 161) AUTHORS Pan G, French D, Mao W, Maruoka M, Risser P, Lee J, Foster J, Aggarwal S, Nicholes K, Guillet S, Schow P and Gurney AL. TITLE Forced expression of murine IL-17E induces growth retardation, jaundice, a Th2-biased response, and multiorgan inflammation in mice JOURNAL J. Immunol. 167 (11), 6559-6567 (2001) PUBMED 11714825 REMARK GeneRIF: Overexpression of IL-17E up-regulates gene expression of Th2 cytokines and induces growth retardation, jaundice, and multiorgan inflammation in a transgenic mouse model. REFERENCE 9 (residues 1 to 161) AUTHORS Fort MM, Cheung J, Yen D, Li J, Zurawski SM, Lo S, Menon S, Clifford T, Hunte B, Lesley R, Muchamuel T, Hurst SD, Zurawski G, Leach MW, Gorman DM and Rennick DM. TITLE IL-25 induces IL-4, IL-5, and IL-13 and Th2-associated pathologies in vivo JOURNAL Immunity 15 (6), 985-995 (2001) PUBMED 11754819 REFERENCE 10 (residues 1 to 161) AUTHORS Lee J, Ho WH, Maruoka M, Corpuz RT, Baldwin DT, Foster JS, Goddard AD, Yansura DG, Vandlen RL, Wood WI and Gurney AL. TITLE IL-17E, a novel proinflammatory ligand for the IL-17 receptor homolog IL-17Rh1 JOURNAL J. Biol. Chem. 276 (2), 1660-1664 (2001) PUBMED 11058597 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF461739.1, AL049829.4 and AF305200.1. Summary: The protein encoded by this gene is a cytokine that shares sequence similarity with interleukin 17. This cytokine can induce NF-kappaB activation, and stimulate the production of interleukin 8. Both this cytokine and interleukin 17B are ligands for the cytokine receptor IL17BR. Studies of a similar gene in mice suggest that this cytokine may be a pro-inflammatory cytokine favoring the Th2-type immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]. Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses an alternate start codon, compared to variant 1. The resulting 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 :: AF461739.1, BC104931.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2155628, SAMEA2155751 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..161 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="14" /map="14q11.2" Protein 1..161 /product="interleukin-25 isoform 2 precursor" /note="interleukin-17E" /calculated_mol_wt=16742 sig_peptide 1..16 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1799 mat_peptide 17..161 /product="interleukin-25 isoform 2" /calculated_mol_wt=16742 Region 69..155 /region_name="IL17" /note="Interleukin-17; pfam06083" /db_xref="CDD:283690" CDS 1..161 /gene="IL25" /gene_synonym="IL17E" /coded_by="NM_172314.1:159..644" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS45086.1" /db_xref="GeneID:64806" /db_xref="HGNC:HGNC:13765" /db_xref="MIM:605658" ORIGIN 1 myqvvaflam vmgthtyshw psccpskgqd tseellrwst vpvpplepar pnrhpescra 61 sedgplnsra ispwryeldr dlnrlpqdly harclcphcv slqtgshmdp rgnsellyhn 121 qtvfyrrpch gekgthkgyc lerrlyrvsl acvcvrprvm g // LOCUS NP_001352318 333 aa linear PRI 20-JUL-2020 DEFINITION olfactory receptor family 4 subfamily N member 4C [Homo sapiens]. ACCESSION NP_001352318 XP_011542101 XP_011544972 VERSION NP_001352318.1 DBSOURCE REFSEQ: accession NM_001365389.1 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 333) 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 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 AC135068.5. On or before Aug 21, 2018 this sequence version replaced XP_011542101.1, XP_011544972.1. 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..333 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q11.2" Protein 1..333 /product="olfactory receptor family 4 subfamily N member 4C" /note="olfactory receptor 4N4" /calculated_mol_wt=37586 Region 42..308 /region_name="7tm_GPCRs" /note="seven-transmembrane G protein-coupled receptor superfamily; cl28897" /db_xref="CDD:333717" Region 44..68 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:320095" Region 77..99 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320095" Region 115..137 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320095" Region 160..176 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320095" Region 213..236 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320095" Region 251..276 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320095" Region 283..308 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320095" CDS 1..333 /gene="OR4N4C" /coded_by="NM_001365389.1:81..1082" /db_xref="GeneID:105369274" /db_xref="HGNC:HGNC:55110" ORIGIN 1 mpsfwpcsrn fqaqaeemki anntvvtefi llgltqsqdi qllvfvlili fyliilpgnf 61 liiftirsdp gltaplylfl gnlafldasy sfivaprmlv dflsekkvis yrgcitqlff 121 lhflgggegl llvvmafdry iaicrplhcs tvmnpracya mmlalwlggf vhsiiqvvli 181 lrlpfcgpnq ldnffcdvrq viklactdmf vvellmvfns glmtllcflg llasyavilc 241 hvrraasegk nkamstcttr viiillmfgp aifiyicpfr alpadkmvsl fhtvifplmn 301 pmiytlrnqe vktsmkrlls rhvvcqvdfi irn // LOCUS NP_001269095 423 aa linear PRI 23-JUL-2020 DEFINITION histone-lysine N-methyltransferase SUV39H1 isoform 1 [Homo sapiens]. ACCESSION NP_001269095 XP_005272699 XP_005278110 VERSION NP_001269095.1 DBSOURCE REFSEQ: accession NM_001282166.1 KEYWORDS RefSeq. SOURCE Homo 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 Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG, Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF, Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth 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 423) AUTHORS Park JW and Bae YS. TITLE Dephosphorylation of p53 Ser 392 Enhances Trimethylation of Histone H3 Lys 9 via SUV39h1 Stabilization in CK2 Downregulation-Mediated Senescence JOURNAL Mol. Cells 42 (11), 773-782 (2019) PUBMED 31617338 REMARK GeneRIF: Results suggest that protein kinase CK2 (CK2) downregulation induces dephosphorylation of Ser 392 on tumor protein p53 (p53), which subsequently increases the stability of suppressor of variegation 3-9 homolog 1 protein (SUV39h1). REFERENCE 3 (residues 1 to 423) AUTHORS Roy A, Ghosh A, Kumar B and Chandran B. TITLE IFI16, a nuclear innate immune DNA sensor, mediates epigenetic silencing of herpesvirus genomes by its association with H3K9 methyltransferases SUV39H1 and GLP JOURNAL Elife 8, e49500 (2019) PUBMED 31682228 REMARK GeneRIF: The authors show that IFI16 is in complex with the H3K9 methyltransferase SUV39H1 and GLP and recruits them to the human herpesvirus 8 genome during de novo infection and latency. The resulting depositions of H3K9me2/me3 serve as a docking site for the heterochromatin-inducing HP1alpha protein leading into the IFI16-dependent epigenetic modifications and silencing of the virus lytic genes. Publication Status: Online-Only REFERENCE 4 (residues 1 to 423) AUTHORS Li J, Yang G, Liu S, Wang L, Liang Z and Zhang H. TITLE Suv39h1 promotes facet joint chondrocyte proliferation by targeting miR-15a/Bcl2 in idiopathic scoliosis patients JOURNAL Clin Epigenetics 11 (1), 107 (2019) PUBMED 31337422 REMARK GeneRIF: Study suggests that increased chondrocyte proliferation occurs in the facet joint cartilage of Idiopathic scoliosis (IS) patients and may be promoted by the elevated levels of H3K9me3 and SUV39H1, which regulate the miR-15a/Bcl2 pathway. This dysregulation of chondrocyte proliferation could result in abnormal spinal growth and may additionally participate in the development and progression of IS. Publication Status: Online-Only REFERENCE 5 (residues 1 to 423) AUTHORS Hagemann TL, Mares D and Kwan S. TITLE Gene regulation of Wiskott-Aldrich syndrome protein and the human homolog of the Drosophila Su(var)3-9: WASP and SUV39H1, two adjacent genes at Xp11.23 JOURNAL Biochim. Biophys. Acta 1493 (3), 368-372 (2000) PUBMED 11018264 REFERENCE 6 (residues 1 to 423) AUTHORS Firestein R, Cui X, Huie P and Cleary ML. TITLE Set domain-dependent regulation of transcriptional silencing and growth control by SUV39H1, a mammalian ortholog of Drosophila Su(var)3-9 JOURNAL Mol. Cell. Biol. 20 (13), 4900-4909 (2000) PUBMED 10848615 REFERENCE 7 (residues 1 to 423) AUTHORS Fraser ME, James MN, Bridger WA and Wolodko WT. TITLE Phosphorylated and dephosphorylated structures of pig heart, GTP-specific succinyl-CoA synthetase JOURNAL J. Mol. Biol. 299 (5), 1325-1339 (2000) PUBMED 10873456 REFERENCE 8 (residues 1 to 423) AUTHORS Melcher M, Schmid M, Aagaard L, Selenko P, Laible G and Jenuwein T. TITLE Structure-function analysis of SUV39H1 reveals a dominant role in heterochromatin organization, chromosome segregation, and mitotic progression JOURNAL Mol. Cell. Biol. 20 (10), 3728-3741 (2000) PUBMED 10779362 REFERENCE 9 (residues 1 to 423) AUTHORS Aagaard L, Schmid M, Warburton P and Jenuwein T. TITLE Mitotic phosphorylation of SUV39H1, a novel component of active centromeres, coincides with transient accumulation at mammalian centromeres JOURNAL J. Cell. Sci. 113 (Pt 5), 817-829 (2000) PUBMED 10671371 REFERENCE 10 (residues 1 to 423) AUTHORS Aagaard L, Laible G, Selenko P, Schmid M, Dorn R, Schotta G, Kuhfittig S, Wolf A, Lebersorger A, Singh PB, Reuter G and Jenuwein T. TITLE Functional mammalian homologues of the Drosophila PEV-modifier Su(var)3-9 encode centromere-associated proteins which complex with the heterochromatin component M31 JOURNAL EMBO J. 18 (7), 1923-1938 (1999) PUBMED 10202156 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK299900.1, BC006238.2, AF019968.1 and AW327567.1. On or before Aug 24, 2013 this sequence version replaced XP_005278110.1, XP_005272699.1. Summary: This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a histone methyltransferase that trimethylates lysine 9 of histone H3, which results in transcriptional gene silencing. Loss of function of this gene disrupts heterochromatin formation and may cause chromosome instability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. 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 :: AK299900.1, SRR1803611.106529.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142670, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..423 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xp11.23" Protein 1..423 /product="histone-lysine N-methyltransferase SUV39H1 isoform 1" /EC_number="2.1.1.355" /note="histone-lysine N-methyltransferase, H3 lysine-9 specific 1; histone H3-K9 methyltransferase 1; Su(var)3-9 homolog 1; lysine N-methyltransferase 1A; position-effect variegation 3-9 homolog" /calculated_mol_wt=49017 Region 54..102 /region_name="CD_SUV39H1_like" /note="chromodomain of histone methyltransferase SUV39H1, and similar proteins; cd18639" /db_xref="CDD:349289" Site order(54..58,73,75..78,82,84..87,89..90,96,99..100) /site_type="other" /note="putative peptide binding site [polypeptide binding]" /db_xref="CDD:349289" Region 169..423 /region_name="SET_SUV39H1" /note="SET domain (including pre-SET and post-SET domains) found in suppressor of variegation 3-9 homolog 1 (SUV39H1) and similar proteins; cd10525" /db_xref="CDD:380923" Site order(265..267,307..308,331..335,376,410..413,422) /site_type="other" /note="putative SAM binding site" /db_xref="CDD:380923" Site order(265..267,284,291,294..295,297,306..311,314,320, 331..335,343,345,358,374,376,409..413) /site_type="active" /note="putative active site [active]" /db_xref="CDD:380923" Site order(309..311,320,343,358,376) /site_type="other" /note="putative polypeptide substrate binding site [polypeptide binding]" /db_xref="CDD:380923" Site order(337,411,413,418) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:380923" Site 376 /site_type="active" /note="catalytic residue [active]" /db_xref="CDD:380923" CDS 1..423 /gene="SUV39H1" /gene_synonym="H3-K9-HMTase 1; KMT1A; MG44; SUV39H" /coded_by="NM_001282166.1:267..1538" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS65252.1" /db_xref="GeneID:6839" /db_xref="HGNC:HGNC:11479" /db_xref="MIM:300254" ORIGIN 1 mvgmsrlrnd rladpltgcs vccksswnql qdlcrlakls cpalgiskrn lydfeveylc 61 dykkireqey ylvkwrgypd sestweprqn lkcvrilkqf hkdlerellr rhhrsktprh 121 ldpslanylv qkakqrralr rweqelnakr shlgritven evdldgppra fvyineyrvg 181 egitlnqvav gcecqdclwa ptggccpgas lhkfayndqg qvrlraglpi yecnsrcrcg 241 ydcpnrvvqk girydlcifr tddgrgwgvr tlekirknsf vmeyvgeiit seeaerrgqi 301 ydrqgatylf dldyvedvyt vdaayygnis hfvnhscdpn lqvynvfidn lderlpriaf 361 fatrtirage eltfdynmqv dpvdmestrm dsnfglaglp gspkkrvrie ckcgtescrk 421 ylf // LOCUS NP_001091883 116 aa linear PRI 23-JUL-2020 DEFINITION G antigen 10 [Homo sapiens]. ACCESSION NP_001091883 XP_006710319 XP_006726905 VERSION NP_001091883.3 DBSOURCE REFSEQ: accession NM_001098413.3 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 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC233302.2. On or before Apr 15, 2014 this sequence version replaced XP_006710319.1, XP_006726905.1, NP_001091883.2. 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## RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2149178 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..116 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xp11.23" Protein 1..116 /product="G antigen 10" /calculated_mol_wt=12573 Region 1..113 /region_name="GAGE" /note="GAGE protein; pfam05831" /db_xref="CDD:283487" CDS 1..116 /gene="GAGE10" /gene_synonym="GAGE-10" /coded_by="NM_001098413.3:117..467" /db_xref="CCDS:CCDS78483.1" /db_xref="GeneID:102724473" /db_xref="HGNC:HGNC:30968" /db_xref="MIM:300737" ORIGIN 1 mswrgrstyr prprryvepp emigpmlpeq fsdevepatp eegepatqrq dpaaaqeged 61 egasagqgpk peadsqeqvh pktgcecgdg pdgqemglpn peevkrpeeg ekqsqc // LOCUS NP_001013649 1225 aa linear PRI 23-JUL-2020 DEFINITION NHS-like protein 2 [Homo sapiens]. ACCESSION NP_001013649 XP_291321 VERSION NP_001013649.2 DBSOURCE REFSEQ: accession NM_001013627.2 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 1225) AUTHORS Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG, Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF, Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth 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 1225) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL929401.8 and BX119917.9. This sequence is a reference standard in the RefSeqGene project. On Jul 25, 2009 this sequence version replaced NP_001013649.1. 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## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1225 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq13.1" Protein 1..1225 /product="NHS-like protein 2" /calculated_mol_wt=133155 Region <500..756 /region_name="NHS" /note="NHS-like; pfam15273" /db_xref="CDD:317649" Site 500 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:B1AXH1; propagated from UniProtKB/Swiss-Prot (Q5HYW2.2)" Site 576 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:B1AXH1; propagated from UniProtKB/Swiss-Prot (Q5HYW2.2)" Site 691 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:B1AXH1; propagated from UniProtKB/Swiss-Prot (Q5HYW2.2)" Region <721..955 /region_name="PHA03247" /note="large tegument protein UL36; Provisional" /db_xref="CDD:223021" Site 1054 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:B1AXH1; propagated from UniProtKB/Swiss-Prot (Q5HYW2.2)" CDS 1..1225 /gene="NHSL2" /coded_by="NM_001013627.2:1..3678" /db_xref="CCDS:CCDS87759.1" /db_xref="GeneID:340527" /db_xref="HGNC:HGNC:33737" ORIGIN 1 mpfyrrtvvp qrlcprnppq qlaelrdvsh laalsllrql adlcghslal ledleghlla 61 lgrrtdslyr rtvrlrrrlp crllgpeede eelaaansgr enatatahsr sswrqpvnvf 121 lssgrppsve ellreaqlnl qsllqeeyee qysearlvgq tfrssdeatk ptpnprpqsa 181 rrlefilmpt krqlsedett tqgvrapeas lslsttadkq tawnslfplp ileekrwpql 241 cstqsdivpi nisgqqfdkh aslrhslfnt etavnpkstl rrrrtiigfs nfsqrdqghs 301 nspagsvahs ttsdirpshs vpegvhgrva vgqdarfpsl tspvlrtpss epdephqars 361 gpnppgmesm gmvysvpssc ngptestfst swkgdaftym tpsatsqsnq vnengknpsc 421 gnswvslnkv pplvpkeaat llvardnpag csgsagyper liqqrhmper pskiglltsg 481 tsrletgpgg asrfrersls vptdsgttdv dydeeqkane acalpfasts segsnsadni 541 aslsaqqeaq hrrqrsksis lrkakkkpsp ptrsvslvkd epgllpeggs alpkdqrpks 601 lclslehqgh hsshpdaqgh paipnhkdpe stqfshhwyl tdwksgdtyq slsssstatg 661 ttviectqvq gsseslasps tsrattpsql sieveareis spgrppglms pssgyssqse 721 tptptvsmsl tlghlpppss svrvrpvvpe rksslpptsp mekfpksrls fdlpltsspn 781 ldlsgmsisi rsktkvsrhh setnfgvkla qktnpnqpim pmvtqsdlrs vrlrsvskse 841 peddiespey aeepraeevf tlperktkpp vaekppvarr ppslvhkpps vpeeyaltsp 901 tlampprssi qharplpqds ytvvrkpkps sfpdgrspge stapsslvft pfasssdaff 961 sgtqqppqgs vedegpkvrv lperislqsq eeaekkkgki pppvpkkpsv lylpltspta 1021 qmeayvaepr lplspiitle edtkcpatgd dlqslgqrvt stpqadsere asplgssvep 1081 gteekslisd ktaewiaedd ddvfvasrtt edlftvihrs krkllgwkep geafvggrts 1141 shspikntae spisestata gsgssanlda grnddfkall qkkgskatpr srpsaaellk 1201 ttnplarrii aqfskdyett dnpst // LOCUS NP_001335124 346 aa linear PRI 23-JUL-2020 DEFINITION G-protein coupled receptor 42 [Homo sapiens]. ACCESSION NP_001335124 VERSION NP_001335124.1 DBSOURCE REFSEQ: accession NM_001348195.1 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 346) AUTHORS Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG, Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF, Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth 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 346) AUTHORS Puhl HL 3rd, Won YJ, Lu VB and Ikeda SR. TITLE Human GPR42 is a transcribed multisite variant that exhibits copy number polymorphism and is functional when heterologously expressed JOURNAL Sci Rep 5, 12880 (2015) PUBMED 26260360 REMARK GeneRIF: Our data suggest that GPR42 be reclassified as a functioning gene and that recognition of sequence and copy number polymorphism of the FFAR3/GPR42 complex be considered during genetic and pharmacological investigation of these receptors. Publication Status: Online-Only REFERENCE 3 (residues 1 to 346) AUTHORS Liaw CW and Connolly DT. TITLE Sequence polymorphisms provide a common consensus sequence for GPR41 and GPR42 JOURNAL DNA Cell Biol. 28 (11), 555-560 (2009) PUBMED 19630535 REMARK GeneRIF: Study presents evidence showing that the six amino acid differences, including that R/W174 are polymorphisms rather than gene-specific differences between GPR41 and GPR42. REFERENCE 4 (residues 1 to 346) AUTHORS Ichimura A, Hirasawa A, Hara T and Tsujimoto G. TITLE Free fatty acid receptors act as nutrient sensors to regulate energy homeostasis JOURNAL Prostaglandins Other Lipid Mediat. 89 (3-4), 82-88 (2009) PUBMED 19460454 REMARK Review article REFERENCE 5 (residues 1 to 346) AUTHORS Brown AJ, Jupe S and Briscoe CP. TITLE A family of fatty acid binding receptors JOURNAL DNA Cell Biol. 24 (1), 54-61 (2005) PUBMED 15684720 REMARK Review article REFERENCE 6 (residues 1 to 346) 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 7 (residues 1 to 346) AUTHORS Brown AJ, Goldsworthy SM, Barnes AA, Eilert MM, Tcheang L, Daniels D, Muir AI, Wigglesworth MJ, Kinghorn I, Fraser NJ, Pike NB, Strum JC, Steplewski KM, Murdock PR, Holder JC, Marshall FH, Szekeres PG, Wilson S, Ignar DM, Foord SM, Wise A and Dowell SJ. TITLE The Orphan G protein-coupled receptors GPR41 and GPR43 are activated by propionate and other short chain carboxylic acids JOURNAL J. Biol. Chem. 278 (13), 11312-11319 (2003) PUBMED 12496283 REFERENCE 8 (residues 1 to 346) AUTHORS Sawzdargo M, George SR, Nguyen T, Xu S, Kolakowski LF and O'Dowd BF. TITLE A cluster of four novel human G protein-coupled receptor genes occurring in close proximity to CD22 gene on chromosome 19q13.1 JOURNAL Biochem. Biophys. Res. Commun. 239 (2), 543-547 (1997) PUBMED 9344866 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC002511.1. 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 cDNA sequencing primers used in PMID:2620360. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [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..346 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.12" Protein 1..346 /product="G-protein coupled receptor 42" /note="G protein-coupled receptor 42 pseudogene; G-protein coupled receptor" /calculated_mol_wt=38564 Region 15..289 /region_name="7tmA_FFAR2_FFAR3" /note="free fatty acid receptors 2, 3, and similar proteins, member of the class A family of seven-transmembrane G protein-coupled receptors; cd15170" /db_xref="CDD:320298" Region 16..42 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:320298" Region 50..75 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320298" Site order(71,74..75,88..93,95..96,99,144,146..150,181, 184..186,188..190,192..193,238,241..242,244..245,248, 254..255,257..259,262,265..266) /site_type="other" /note="putative ligand binding pocket [chemical binding]" /db_xref="CDD:320298" Region 88..118 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320298" Region 130..152 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320298" Region 181..210 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320298" Region 218..248 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320298" Region 255..280 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320298" CDS 1..346 /gene="GPR42" /gene_synonym="FFAR1L; FFAR3L; GPR41L; GPR42P" /coded_by="NM_001348195.1:36..1076" /db_xref="GeneID:2866" /db_xref="HGNC:HGNC:4500" /db_xref="MIM:603822" ORIGIN 1 mdtgpdqsyf sgnhwfvfsv ylltflvglp lnllalvvfv gklrcrpvav dvlllnltas 61 dlllllflpf rmveaangmh wplpfilcpl sgfiffttiy ltalflaavs ierflsvahp 121 lwyktrprlg qaglvsvacw llasahcsvv yviefsgdis hsqgtngtcy lefwkdqlai 181 llpvrlemav vlfvvpliit sycysrlvwi lgrggshrrq rrvaglvaat llnflvcfgp 241 ynvshvvgyi cgespvwriy vtllstlnsc vdpfvyyfss sgfqadfhel lrrlcglwgq 301 wqqessmelk eqkggeeqra drpaerktse hsqgcgtggq vacaen // LOCUS NP_941960 401 aa linear PRI 23-JUL-2020 DEFINITION keratin-associated protein 10-4 [Homo sapiens]. ACCESSION NP_941960 VERSION NP_941960.2 DBSOURCE REFSEQ: accession NM_198687.2 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 401) AUTHORS Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG, Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF, Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth 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 401) AUTHORS Shibuya K, Obayashi I, Asakawa S, Minoshima S, Kudoh J and Shimizu N. TITLE A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3 JOURNAL Genomics 83 (4), 679-693 (2004) PUBMED 15028290 REFERENCE 3 (residues 1 to 401) AUTHORS Rogers MA, Langbein L, Winter H, Beckmann I, Praetzel S and Schweizer J. TITLE Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21 JOURNAL J. Invest. Dermatol. 122 (1), 147-158 (2004) PUBMED 14962103 REFERENCE 4 (residues 1 to 401) 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 REVIEWED REFSEQ: This record has been curated by NCBI staff in collaboration with Michael Rogers. The reference sequence was derived from AP001067.1. On Apr 18, 2014 this sequence version replaced NP_941960.1. Summary: This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers. [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. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000400374.4/ ENSP00000383225.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..401 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="21" /map="21q22.3" Protein 1..401 /product="keratin-associated protein 10-4" /note="keratin-associated protein 18.4; high sulfur keratin-associated protein 10.4" /calculated_mol_wt=40344 Region 36..395 /region_name="36 X 5 AA repeats of C-C-X(3)" /note="propagated from UniProtKB/Swiss-Prot (P60372.1)" Region 52..233 /region_name="PMG" /note="PMG protein; pfam05287" /db_xref="CDD:283053" Region 89..130 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 202..242 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 207..387 /region_name="Keratin_B2" /note="Keratin, high sulfur B2 protein; pfam01500" /db_xref="CDD:279797" Region 233..289 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 297..332 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" CDS 1..401 /gene="KRTAP10-4" /gene_synonym="KAP10.4; KAP18-4; KRTAP10.4; KRTAP18-4; KRTAP18.4" /coded_by="NM_198687.2:31..1236" /db_xref="CCDS:CCDS42957.1" /db_xref="GeneID:386672" /db_xref="HGNC:HGNC:20521" ORIGIN 1 msvcssdlsy ssrvclpgsc dscsdswqvd dcpesccepp ccapsccapa pclslvctpv 61 srvsspccpv tcepspcqsg ctssctpscc qqsscqlacc asspcqqacc vpvccktvcc 121 kpvccvpvcc gdssccqqss cqsacctssp cqqaccvpic ckpvcsgiss sccqqsscvs 181 cvsspccqav cepspcqsgc issctpsccq qsscqpacct ssscqqaccv pvccktvcck 241 pvcsedsssc cqqsscqpac ctsspcqqac cvpvcckpvc ckpvcsvpic sgasslccqq 301 sscqpaccts sqsqqgccvp vcckpvscvp vcsgassscc qqsscqpacc ttsccrpsss 361 vsllcrpvcr paccvpvpsc captsscqps ccrpascvsl l // LOCUS NP_001308530 118 aa linear PRI 24-JUL-2020 DEFINITION adenylate kinase isoenzyme 1-like [Homo sapiens]. ACCESSION NP_001308530 XP_003403529 XP_003960802 VERSION NP_001308530.1 DBSOURCE REFSEQ: accession NM_001321601.2 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 118) 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 AC011491.7. On or before Mar 26, 2016 this sequence version replaced XP_003403529.4, XP_003960802.2. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..118 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.3" Protein 1..118 /product="adenylate kinase isoenzyme 1-like" /note="CTB-180A7.8" /calculated_mol_wt=13146 Region 1..116 /region_name="ADK" /note="Adenylate kinase (ADK) catalyzes the reversible phosphoryl transfer from adenosine triphosphates (ATP) to adenosine monophosphates (AMP) and to yield adenosine diphosphates (ADP). This enzyme is required for the biosynthesis of ADP and is essential for...; cd01428" /db_xref="CDD:238713" Region 1..112 /region_name="ADK" /note="Adenylate kinase; pfam00406" /db_xref="CDD:278818" CDS 1..118 /gene="LOC390877" /coded_by="NM_001321601.2:108..464" /db_xref="GeneID:390877" ORIGIN 1 mggpgcgkgt qcknmatkyg fchvgldqll rqeaqrstqr grqirditlq gllvpavgqa 61 psvvivfdcs metmlrrvlh wgqvehradd selaihqrld thytlcepvl tyqrnnll // LOCUS NP_872378 408 aa linear PRI 24-JUL-2020 DEFINITION zinc finger and SCAN domain-containing protein 1 [Homo sapiens]. ACCESSION NP_872378 VERSION NP_872378.3 DBSOURCE REFSEQ: accession NM_182572.4 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 408) 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 408) 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 AC008969.6 and AC008751.7. On Jul 18, 2006 this sequence version replaced NP_872378.2. ##Evidence-Data-START## Transcript exon combination :: AK091098.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968189, SAMEA1968540 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000282326.6/ ENSP00000282326.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..408 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.43" Protein 1..408 /product="zinc finger and SCAN domain-containing protein 1" /note="zinc finger with SCAN domain 1" /calculated_mol_wt=45155 Region 35..122 /region_name="SCAN" /note="SCAN domain; pfam02023" /db_xref="CDD:280241" Site order(41..42,44..46,51..53,55..56,59..60,63..64,66..69, 73..74,77..78,81..83,85..86,88..91,110,113..114,116..118) /site_type="other" /note="dimerization interface [polypeptide binding]" /db_xref="CDD:153421" 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..338,341,387,389,391,393..394,397..398,401) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 306..331 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 322..342 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(322,325,338,342) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 382..402 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(382,385,398,402) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..408 /gene="ZSCAN1" /gene_synonym="MZF-1; ZNF915" /coded_by="NM_182572.4:289..1515" /db_xref="CCDS:CCDS12969.1" /db_xref="GeneID:284312" /db_xref="HGNC:HGNC:23712" ORIGIN 1 mlprpkapas prrpqtptps eqdadpgpas prdteaqrlr frqfqyhvas gphlalgqlw 61 tlcrqwlrpe arskeqmlel lvleqflgal pskmrtwvqs qgprscreaa slvedltqmc 121 qqevlvslds vepqdwsfge eedgksprsq kepsqaseli ldavaaapal peesewlett 181 qlqqslhtra eaeaprapgl lgsrarlplk psiwdepedl lagpssdlra egtvisspkg 241 psaqrisprr rnrntdqsgr hqpslkhtkg gtqeavagis vvprgprggr pfqcadcgmv 301 ftwvthfieh qkthreegpf pcpecgkvfl hnsvltehgk ihllepprkk aprskgpres 361 vpprdgaqgp vaprspkrpf qcsvcgkafp wmvhlidhqk lhtahghm // LOCUS NP_857597 1349 aa linear PRI 24-JUL-2020 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 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_001032821 93 aa linear PRI 25-JUL-2020 DEFINITION beta-defensin 128 precursor [Homo sapiens]. ACCESSION NP_001032821 VERSION NP_001032821.1 DBSOURCE REFSEQ: accession NM_001037732.3 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 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 Ghatge M, Sharma A, Maity S, Kakkar VV and Vangala RK. TITLE Danger-recognizing proteins, beta-defensin-128 and histatin-3, as potential biomarkers of recurrent coronary events JOURNAL Int. J. Mol. Med. 40 (2), 531-538 (2017) PUBMED 28627688 REMARK GeneRIF: This aim of this study was to identify novel biomarkers using comparative global proteome analysis to improve the risk assessment for recurrent coronary events. Beta -defensin-128 and histatin-3 may be potential biomarkers whch may be used to improve risk the stratification for recurrent coronary events. REFERENCE 3 (residues 1 to 93) 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 93) AUTHORS Patil AA, Cai Y, Sang Y, Blecha F and Zhang G. TITLE Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract JOURNAL Physiol. Genomics 23 (1), 5-17 (2005) PUBMED 16033865 REFERENCE 5 (residues 1 to 93) AUTHORS Schulz A, Kluver E, Schulz-Maronde S and Adermann K. TITLE Engineering disulfide bonds of the novel human beta-defensins hBD-27 and hBD-28: differences in disulfide formation and biological activity among human beta-defensins JOURNAL Biopolymers 80 (1), 34-49 (2005) PUBMED 15625724 REFERENCE 6 (residues 1 to 93) 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 7 (residues 1 to 93) 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] COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL360078.16, BC140936.1 and AF525930.1. 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 :: BC140936.1, AF525930.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000334391.5/ ENSP00000335382.4 Protein has antimicrobial activity :: PMID: 12620395 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="20p13" Protein 1..93 /product="beta-defensin 128 precursor" /note="defensin, beta 28; beta-defensin 28; beta-defensin 128" /calculated_mol_wt=8590 sig_peptide 1..18 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2078 mat_peptide 19..93 /product="beta-defensin 128" /experiment="DESCRIPTION:antimicrobial peptide[PMID: 12620395]" /calculated_mol_wt=8590 Region 23..53 /region_name="Defensin_beta_2" /note="Beta defensin; pfam13841" /db_xref="CDD:290553" CDS 1..93 /gene="DEFB128" /gene_synonym="DEFB-28; DEFB28; hBD-28" /coded_by="NM_001037732.3:89..370" /db_xref="CCDS:CCDS33430.1" /db_xref="GeneID:245939" /db_xref="HGNC:HGNC:18106" ORIGIN 1 mklflvliil lfevltdgar lkkcfnkvtg ycrkkckvge ryeigclsgk lccandeeek 61 khvsfkkphq hsgeklsvlq dyiilptiti ftv // LOCUS NP_079242 476 aa linear PRI 25-JUL-2020 DEFINITION semaphorin-6D isoform 6 precursor [Homo sapiens]. ACCESSION NP_079242 VERSION NP_079242.2 DBSOURCE REFSEQ: accession NM_024966.3 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 476) 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 476) 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 3 (residues 1 to 476) 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 4 (residues 1 to 476) 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 476) AUTHORS Della-Morte D, Wang L, Beecham A, Blanton SH, Zhao H, Sacco RL, Rundek T and Dong C. TITLE Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics JOURNAL J. Neurol. Sci. 344 (1-2), 27-31 (2014) PUBMED 24954085 REFERENCE 6 (residues 1 to 476) 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 476) 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 476) 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 476) 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 476) 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, AF389426.1 and AC018900.8. On Oct 22, 2002 this sequence version replaced NP_079242.1. 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 :: AF389426.1, SRR1803616.49414.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..476 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q21.1" Protein 1..476 /product="semaphorin-6D isoform 6 precursor" /note="sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D" /calculated_mol_wt=51782 sig_peptide 1..21 /calculated_mol_wt=2453 mat_peptide 22..476 /product="semaphorin-6D isoform 6" /calculated_mol_wt=51782 Region 49..476 /region_name="Sema" /note="The Sema domain, a protein interacting module, of semaphorins and plexins; cl15693" /db_xref="CDD:301699" Site 51 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NFY4.1)" 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)" CDS 1..476 /gene="SEMA6D" /coded_by="NM_024966.3:837..2267" /note="isoform 6 precursor is encoded by transcript variant 6" /db_xref="CCDS:CCDS32229.1" /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 aynhak // LOCUS NP_000191 51 aa linear PRI 25-JUL-2020 DEFINITION histatin-3 precursor [Homo sapiens]. ACCESSION NP_000191 VERSION NP_000191.1 DBSOURCE REFSEQ: accession NM_000200.3 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 51) AUTHORS Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG, Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF, Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth 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 51) AUTHORS Andreasen S, Varma S, Barasch N, Thompson LDR, Miettinen M, Rooper L, Stelow EB, Agander TK, Seethala RR, Chiosea SI, Homoe P, Wessel I, Larsen SR, Erentaite D, Bishop JA, Ulhoi BP, Kiss K, Melchior LC, Pollack JR and West RB. TITLE The HTN3-MSANTD3 Fusion Gene Defines a Subset of Acinic Cell Carcinoma of the Salivary Gland JOURNAL Am. J. Surg. Pathol. 43 (4), 489-496 (2019) PUBMED 30520817 REMARK GeneRIF: we find the HTN3-MSANTD3 gene fusion to be a recurrent event in acinic cell carcinoma with prominent serous differentiation and an indolent clinical course REFERENCE 3 (residues 1 to 51) AUTHORS Jourdain ML, Pierrard L, Kanagaratnam L, Velard F, Sergheraert J, Lefevre B, Gangloff SC and Braux J. TITLE Antimicrobial peptide gene expression in periodontitis patients: A pilot study JOURNAL J. Clin. Periodontol. 45 (5), 524-537 (2018) PUBMED 29446150 REMARK GeneRIF: Three AMP genes, histatin 3 (HTN3), alpha-defensin 4 (DEFA4) and lysozyme C (LYZ), presented different expression levels in periodontitis patients compared with healthy subjects. The relative expression level of DEFA4 appeared to be a protective factor against periodontitis. REFERENCE 4 (residues 1 to 51) AUTHORS da Rocha Curvelo JA, Reis de Sa LF, Moraes DC, Soares RM and Ferreira-Pereira A. TITLE Histatin-5 induces the reversal of Pdr5p mediated fluconazole resistance in Saccharomyces cerevisae JOURNAL J Mycol Med 28 (1), 137-142 (2018) PUBMED 29217144 REMARK GeneRIF: Since Pdr5p is homologous to Candida albicans CaCdr1p and CaCdr2p, data obtained might be extrapolated to these transporters, inferring that associating fluconazole and histatin-5 may be a useful tool to circumvent failure treatments of infections caused by Candida MDR strains. REFERENCE 5 (residues 1 to 51) AUTHORS Conklin SE, Bridgman EC, Su Q, Riggs-Gelasco P, Haas KL and Franz KJ. TITLE Specific Histidine Residues Confer Histatin Peptides with Copper-Dependent Activity against Candida albicans JOURNAL Biochemistry 56 (32), 4244-4255 (2017) PUBMED 28763199 REMARK GeneRIF: the availability of Cu during exposure of Candida albicans to histatin-5 (Hist-5) modulates its antifungal activity. REFERENCE 6 (residues 1 to 51) AUTHORS Troxler RF, Offner GD, Xu T, Vanderspek JC and Oppenheim FG. TITLE Structural relationship between human salivary histatins JOURNAL J. Dent. Res. 69 (1), 2-6 (1990) PUBMED 2303595 REFERENCE 7 (residues 1 to 51) AUTHORS Sugiyama K, Ogino T and Ogata K. TITLE Rapid purification and characterization of histatins (histidine-rich polypeptides) from human whole saliva JOURNAL Arch. Oral Biol. 35 (6), 415-419 (1990) PUBMED 2372245 REFERENCE 8 (residues 1 to 51) AUTHORS vanderSpek JC, Offner GD, Troxler RF and Oppenheim FG. TITLE Molecular cloning of human submandibular histatins JOURNAL Arch. Oral Biol. 35 (2), 137-143 (1990) PUBMED 2344289 REFERENCE 9 (residues 1 to 51) AUTHORS vanderSpek JC, Wyandt HE, Skare JC, Milunsky A, Oppenheim FG and Troxler RF. TITLE Localization of the genes for histatins to human chromosome 4q13 and tissue distribution of the mRNAs JOURNAL Am. J. Hum. Genet. 45 (3), 381-387 (1989) PUBMED 2773933 REFERENCE 10 (residues 1 to 51) AUTHORS Sabatini LM and Azen EA. TITLE Histatins, a family of salivary histidine-rich proteins, are encoded by at least two loci (HIS1 and HIS2) JOURNAL Biochem. Biophys. Res. Commun. 160 (2), 495-502 (1989) PUBMED 2719677 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC063956.7. This sequence is a reference standard in the RefSeqGene project. Summary: This gene encodes a member of the histatin family of small, histidine-rich, cationic proteins. They function as antimicrobial peptides and are important components of the innate immune system. Histatins are found in saliva and exhibit antibacterial, antifungal activities and function in wound healing. [provided by RefSeq, Sep 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 :: BP332860.1, BP333327.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000673563.1/ ENSP00000500623.1 Protein has antimicrobial activity :: PMID: 2303595 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..51 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q13.3" Protein 1..51 /product="histatin-3 precursor" /note="histidine-rich protein 3; basic histidine-rich protein; histatin-6; histatin-5; histatin-4; histatin-9; histatin-7; histatin-8" /calculated_mol_wt=4062 sig_peptide 1..19 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2105 CDS 1..51 /gene="HTN3" /gene_synonym="HIS2; HTN2; HTN5; PB" /coded_by="NM_000200.3:72..227" /db_xref="CCDS:CCDS33999.1" /db_xref="GeneID:3347" /db_xref="HGNC:HGNC:5284" /db_xref="MIM:142702" ORIGIN 1 mkffvfalil almlsmtgad shakrhhgyk rkfhekhhsh rgyrsnylyd n // LOCUS NP_001075020 67 aa linear PRI 25-JUL-2020 DEFINITION beta-defensin 103 precursor [Homo sapiens]. ACCESSION NP_001075020 VERSION NP_001075020.1 DBSOURCE REFSEQ: accession NM_001081551.4 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 67) AUTHORS Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG, Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF, Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth 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 67) AUTHORS Pilkington SM, Dearman RJ, Kimber I and Griffiths CEM. TITLE Langerhans cells express human beta-defensin 3: relevance for immunity during skin ageing JOURNAL Br. J. Dermatol. 179 (5), 1170-1171 (2018) PUBMED 29758092 REMARK GeneRIF: In aged skin the relative paucity of Langerhans cells not only results in diminished immunosurveillance, but could also reduce the epidermal pool of HBD3, potentially contributing to impaired cutaneous immunity to microbes and reduced efficacy of tumor cell lysis. REFERENCE 3 (residues 1 to 67) AUTHORS Wu Y, Li D, Wang Y, Liu X, Zhang Y, Qu W, Chen K, Francisco NM, Feng L, Huang X and Wu M. TITLE Beta-Defensin 2 and 3 Promote Bacterial Clearance of Pseudomonas aeruginosa by Inhibiting Macrophage Autophagy through Downregulation of Early Growth Response Gene-1 and c-FOS JOURNAL Front Immunol 9, 211 (2018) PUBMED 29487594 REMARK GeneRIF: Results from study in human monocytic cell line THP-1 and murine macrophage-like cell line RAW264.7 demonstrate a novel immune defense activity of BD2 and BD3, which promotes clearance of Pseudomonas aeruginosa by inhibiting macrophage autophagy through down-regulation of EGR1 and c-FOS. Publication Status: Online-Only REFERENCE 4 (residues 1 to 67) AUTHORS McGlasson SL, Semple F, MacPherson H, Gray M, Davidson DJ and Dorin JR. TITLE Human beta-defensin 3 increases the TLR9-dependent response to bacterial DNA JOURNAL Eur. J. Immunol. 47 (4), 658-664 (2017) PUBMED 28102569 REMARK GeneRIF: this study shows that hBD3 amplifies the response to bacterial DNA in both mouse and human immune cells in a TLR9-dependent manner REFERENCE 5 (residues 1 to 67) AUTHORS Cai G, Xia Q, Fan D, Li X, Ding N, Hu Y, Yang X, Liu L, Xin L, Wang L, Xu S, Xu J, Zou Y, Ding C and Pan F. TITLE Association between DEFB103 gene copy number variation and ankylosing spondylitis: a case-control study JOURNAL Tissue Antigens 86 (3), 195-198 (2015) PUBMED 26224324 REMARK GeneRIF: the role of DEFB103 gene copy number variation (CNV) in ankylosing spondylitis (AS) susceptibility, was investigated. REFERENCE 6 (residues 1 to 67) AUTHORS Zanger P, Holzer J, Schleucher R, Scherbaum H, Schittek B and Gabrysch S. TITLE Severity of Staphylococcus aureus infection of the skin is associated with inducibility of human beta-defensin 3 but not human beta-defensin 2 JOURNAL Infect. Immun. 78 (7), 3112-3117 (2010) PUBMED 20404083 REMARK GeneRIF: Inducibility of HBD3 influences the severity of Gram-positive skin infection in humans in vivo. REFERENCE 7 (residues 1 to 67) AUTHORS Maisetta G, Batoni G, Esin S, Florio W, Bottai D, Favilli F and Campa M. TITLE In vitro bactericidal activity of human beta-defensin 3 against multidrug-resistant nosocomial strains JOURNAL Antimicrob. Agents Chemother. 50 (2), 806-809 (2006) PUBMED 16436752 REFERENCE 8 (residues 1 to 67) AUTHORS Schulz A, Kluver E, Schulz-Maronde S and Adermann K. TITLE Engineering disulfide bonds of the novel human beta-defensins hBD-27 and hBD-28: differences in disulfide formation and biological activity among human beta-defensins JOURNAL Biopolymers 80 (1), 34-49 (2005) PUBMED 15625724 REFERENCE 9 (residues 1 to 67) AUTHORS Harder J, Bartels J, Christophers E and Schroder JM. TITLE Isolation and characterization of human beta -defensin-3, a novel human inducible peptide antibiotic JOURNAL J. Biol. Chem. 276 (8), 5707-5713 (2001) PUBMED 11085990 REMARK GeneRIF: The encoded peptide displays antimicrobial activity against S. aureus and E. faecium. REFERENCE 10 (residues 1 to 67) AUTHORS Jia HP, Schutte BC, Schudy A, Linzmeier R, Guthmiller JM, Johnson GK, Tack BF, Mitros JP, Rosenthal A, Ganz T and McCray PB Jr. TITLE Discovery of new human beta-defensins using a genomics-based approach JOURNAL Gene 263 (1-2), 211-218 (2001) PUBMED 11223260 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC130365.5. Summary: Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 103, an antibiotic peptide which is induced by bacteria and interferon gamma, and which displays antimicrobial activity against S. aureus, S. pyogenes, P. aeruginosa, E. coli, and C. albicans. [provided by RefSeq, Oct 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 :: BQ354967.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000314357.4/ ENSP00000320951.3 Protein has antimicrobial activity :: PMID: 11085990 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..67 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="8" /map="8p23.1" Protein 1..67 /product="beta-defensin 103 precursor" /note="beta-defensin 3; defensin, beta 103; defensin-like protein" /calculated_mol_wt=5161 sig_peptide 1..22 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2554 Region 30..64 /region_name="Defensin_beta" /note="Beta defensin; pfam00711" /db_xref="CDD:366260" CDS 1..67 /gene="DEFB103A" /gene_synonym="BD-3; DEFB-3; DEFB103; DEFB3; HBD3; HBP-3; HBP3" /coded_by="NM_001081551.4:31..234" /db_xref="CCDS:CCDS43701.1" /db_xref="GeneID:414325" /db_xref="HGNC:HGNC:15967" ORIGIN 1 mrihyllfal lflflvpvpg hggiintlqk yycrvrggrc avlsclpkee qigkcstrgr 61 kccrrkk // LOCUS NP_463460 108 aa linear PRI 26-JUL-2020 DEFINITION peptidyl-prolyl cis-trans isomerase FKBP1A isoform a [Homo sapiens]. ACCESSION NP_463460 VERSION NP_463460.1 DBSOURCE REFSEQ: accession NM_054014.3 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 108) AUTHORS Zhang Y, Zhang D, Lv J, Wang S and Zhang Q. TITLE LncRNA SNHG15 acts as an oncogene in prostate cancer by regulating miR-338-3p/FKBP1A axis JOURNAL Gene 705, 44-50 (2019) PUBMED 30981837 REMARK GeneRIF: Results found that FKBP1A is post-transcriptional regulated in prostate neoplasm cells regulated after miR-388 is sponged in the cytoplasm by SNHG15. REFERENCE 2 (residues 1 to 108) AUTHORS Wang Z, Feng J, Yu J and Chen G. TITLE FKBP12 mediates necroptosis by initiating RIPK1-RIPK3-MLKL signal transduction in response to TNF receptor 1 ligation JOURNAL J. Cell. Sci. 132 (10) (2019) PUBMED 31028177 REMARK GeneRIF: Study discovered that FKBP12 is essential for initiating necrosome formation and RIPK1-RIPK3-MLKL signaling pathway activation in response to TNF receptor 1 ligation. In addition, FKBP12 is indispensable for RIPK1 and RIPK3 expression and subsequent spontaneous phosphorylation, which are essential processes for initial necrosome formation and necroptotic signal transduction. Publication Status: Online-Only REFERENCE 3 (residues 1 to 108) AUTHORS Wu Z, Xu Q, Qiu X, Xu L, Jiao Z, Zhang M and Zhong M. TITLE FKBP1A rs6041749 polymorphism is associated with allograft function in renal transplant patients JOURNAL Eur. J. Clin. Pharmacol. 75 (1), 33-40 (2019) PUBMED 30215102 REMARK GeneRIF: FKBP1A rs6041749 C allele carriers are at higher risk for eGFR deterioration in renal transplant patients; the variant might serve as a biomarker to predict allograft function in renal transplant patients REFERENCE 4 (residues 1 to 108) AUTHORS Trepte P, Kruse S, Kostova S, Hoffmann S, Buntru A, Tempelmeier A, Secker C, Diez L, Schulz A, Klockmeier K, Zenkner M, Golusik S, Rau K, Schnoegl S, Garner CC and Wanker EE. TITLE LuTHy: a double-readout bioluminescence-based two-hybrid technology for quantitative mapping of protein-protein interactions in mammalian cells JOURNAL Mol. Syst. Biol. 14 (7), e8071 (2018) PUBMED 29997244 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 108) AUTHORS Machiya A, Tsukamoto S, Ohte S, Kuratani M, Fujimoto M, Kumagai K, Osawa K, Suda N, Bullock AN and Katagiri T. TITLE Effects of FKBP12 and type II BMP receptors on signal transduction by ALK2 activating mutations associated with genetic disorders JOURNAL Bone 111, 101-108 (2018) PUBMED 29551750 REMARK GeneRIF: this study examined the effect of the suppressor FKBP12 on the signal transduction of a further 14 ALK2 mutations associated with fibrodysplasia ossificans progressiva or diffuse intrinsic pontine glioma. REFERENCE 6 (residues 1 to 108) 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 7 (residues 1 to 108) AUTHORS Jayaraman T, Brillantes AM, Timerman AP, Fleischer S, Erdjument-Bromage H, Tempst P and Marks AR. TITLE FK506 binding protein associated with the calcium release channel (ryanodine receptor) JOURNAL J. Biol. Chem. 267 (14), 9474-9477 (1992) PUBMED 1374404 REFERENCE 8 (residues 1 to 108) AUTHORS Lepre CA, Thomson JA and Moore JM. TITLE Solution structure of FK506 bound to FKBP-12 JOURNAL FEBS Lett. 302 (1), 89-96 (1992) PUBMED 1375171 REFERENCE 9 (residues 1 to 108) AUTHORS Standaert RF, Galat A, Verdine GL and Schreiber SL. TITLE Molecular cloning and overexpression of the human FK506-binding protein FKBP JOURNAL Nature 346 (6285), 671-674 (1990) PUBMED 1696686 REFERENCE 10 (residues 1 to 108) AUTHORS Maki N, Sekiguchi F, Nishimaki J, Miwa K, Hayano T, Takahashi N and Suzuki M. TITLE Complementary DNA encoding the human T-cell FK506-binding protein, a peptidylprolyl cis-trans isomerase distinct from cyclophilin JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87 (14), 5440-5443 (1990) PUBMED 1695378 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CX870892.1, BC005147.2, X52220.1 and CN426120.1. 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. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 2008]. Transcript Variant: This variant (2, also known as 12A) differs in the 3' 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 :: SRR1660809.228831.1, SRR1660809.76165.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..108 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20p13" Protein 1..108 /product="peptidyl-prolyl cis-trans isomerase FKBP1A isoform a" /EC_number="5.2.1.8" /note="calstabin-1; FK506-binding protein, T-cell, 12-kD; protein kinase C inhibitor 2; rotamase; immunophilin FKBP12; FK506-binding protein 1; peptidyl-prolyl cis-trans isomerase FKBP1A; FKBP12-Exip3; FK506 binding protein12; FK506-binding protein 12; 12 kDa FKBP; PPIase FKBP1A; 12 kDa FK506-binding protein; FK506 binding protein 1A, 12kDa; FK506-binding protein 1A" /calculated_mol_wt=11820 Region <2..106 /region_name="FkpA" /note="FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]; COG0545" /db_xref="CDD:223619" Site 53 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:P26883; propagated from UniProtKB/Swiss-Prot (P62942.2)" CDS 1..108 /gene="FKBP1A" /gene_synonym="FKBP-12; FKBP-1A; FKBP1; FKBP12; PKC12; PKCI2; PPIASE" /coded_by="NM_054014.3:175..501" /note="isoform a is encoded by transcript variant 2" /db_xref="CCDS:CCDS13014.1" /db_xref="GeneID:2280" /db_xref="HGNC:HGNC:3711" /db_xref="MIM:186945" ORIGIN 1 mgvqvetisp gdgrtfpkrg qtcvvhytgm ledgkkfdss rdrnkpfkfm lgkqevirgw 61 eegvaqmsvg qrakltispd yaygatghpg iipphatlvf dvellkle // LOCUS NP_001186715 97 aa linear PRI 26-JUL-2020 DEFINITION peptidyl-prolyl cis-trans isomerase FKBP1A isoform b [Homo sapiens]. ACCESSION NP_001186715 VERSION NP_001186715.1 DBSOURCE REFSEQ: accession NM_001199786.1 KEYWORDS RefSeq. SOURCE Homo 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 Zhang Y, Zhang D, Lv J, Wang S and Zhang Q. TITLE LncRNA SNHG15 acts as an oncogene in prostate cancer by regulating miR-338-3p/FKBP1A axis JOURNAL Gene 705, 44-50 (2019) PUBMED 30981837 REMARK GeneRIF: Results found that FKBP1A is post-transcriptional regulated in prostate neoplasm cells regulated after miR-388 is sponged in the cytoplasm by SNHG15. REFERENCE 2 (residues 1 to 97) AUTHORS Wang Z, Feng J, Yu J and Chen G. TITLE FKBP12 mediates necroptosis by initiating RIPK1-RIPK3-MLKL signal transduction in response to TNF receptor 1 ligation JOURNAL J. Cell. Sci. 132 (10) (2019) PUBMED 31028177 REMARK GeneRIF: Study discovered that FKBP12 is essential for initiating necrosome formation and RIPK1-RIPK3-MLKL signaling pathway activation in response to TNF receptor 1 ligation. In addition, FKBP12 is indispensable for RIPK1 and RIPK3 expression and subsequent spontaneous phosphorylation, which are essential processes for initial necrosome formation and necroptotic signal transduction. Publication Status: Online-Only REFERENCE 3 (residues 1 to 97) AUTHORS Wu Z, Xu Q, Qiu X, Xu L, Jiao Z, Zhang M and Zhong M. TITLE FKBP1A rs6041749 polymorphism is associated with allograft function in renal transplant patients JOURNAL Eur. J. Clin. Pharmacol. 75 (1), 33-40 (2019) PUBMED 30215102 REMARK GeneRIF: FKBP1A rs6041749 C allele carriers are at higher risk for eGFR deterioration in renal transplant patients; the variant might serve as a biomarker to predict allograft function in renal transplant patients REFERENCE 4 (residues 1 to 97) AUTHORS Trepte P, Kruse S, Kostova S, Hoffmann S, Buntru A, Tempelmeier A, Secker C, Diez L, Schulz A, Klockmeier K, Zenkner M, Golusik S, Rau K, Schnoegl S, Garner CC and Wanker EE. TITLE LuTHy: a double-readout bioluminescence-based two-hybrid technology for quantitative mapping of protein-protein interactions in mammalian cells JOURNAL Mol. Syst. Biol. 14 (7), e8071 (2018) PUBMED 29997244 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 97) AUTHORS Machiya A, Tsukamoto S, Ohte S, Kuratani M, Fujimoto M, Kumagai K, Osawa K, Suda N, Bullock AN and Katagiri T. TITLE Effects of FKBP12 and type II BMP receptors on signal transduction by ALK2 activating mutations associated with genetic disorders JOURNAL Bone 111, 101-108 (2018) PUBMED 29551750 REMARK GeneRIF: this study examined the effect of the suppressor FKBP12 on the signal transduction of a further 14 ALK2 mutations associated with fibrodysplasia ossificans progressiva or diffuse intrinsic pontine glioma. REFERENCE 6 (residues 1 to 97) 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 7 (residues 1 to 97) AUTHORS Jayaraman T, Brillantes AM, Timerman AP, Fleischer S, Erdjument-Bromage H, Tempst P and Marks AR. TITLE FK506 binding protein associated with the calcium release channel (ryanodine receptor) JOURNAL J. Biol. Chem. 267 (14), 9474-9477 (1992) PUBMED 1374404 REFERENCE 8 (residues 1 to 97) AUTHORS Lepre CA, Thomson JA and Moore JM. TITLE Solution structure of FK506 bound to FKBP-12 JOURNAL FEBS Lett. 302 (1), 89-96 (1992) PUBMED 1375171 REFERENCE 9 (residues 1 to 97) AUTHORS Standaert RF, Galat A, Verdine GL and Schreiber SL. TITLE Molecular cloning and overexpression of the human FK506-binding protein FKBP JOURNAL Nature 346 (6285), 671-674 (1990) PUBMED 1696686 REFERENCE 10 (residues 1 to 97) AUTHORS Maki N, Sekiguchi F, Nishimaki J, Miwa K, Hayano T, Takahashi N and Suzuki M. TITLE Complementary DNA encoding the human T-cell FK506-binding protein, a peptidylprolyl cis-trans isomerase distinct from cyclophilin JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87 (14), 5440-5443 (1990) PUBMED 1695378 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from CX870892.1, BU540706.1, AL136531.16 and CA450516.1. 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. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 2008]. Transcript Variant: This variant (3) lacks an exon in the coding region, which results in a frameshift compared to variant 1. The encoded 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 :: ERR279866.702.1, SRR1163655.337107.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..97 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20p13" Protein 1..97 /product="peptidyl-prolyl cis-trans isomerase FKBP1A isoform b" /EC_number="5.2.1.8" /note="calstabin-1; FK506-binding protein, T-cell, 12-kD; protein kinase C inhibitor 2; rotamase; immunophilin FKBP12; FK506-binding protein 1; peptidyl-prolyl cis-trans isomerase FKBP1A; FKBP12-Exip3; FK506 binding protein12; FK506-binding protein 12; 12 kDa FKBP; PPIase FKBP1A; 12 kDa FK506-binding protein; FK506 binding protein 1A, 12kDa; FK506-binding protein 1A" /calculated_mol_wt=10669 Region <2..>28 /region_name="FkpA" /note="FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]; COG0545" /db_xref="CDD:223619" CDS 1..97 /gene="FKBP1A" /gene_synonym="FKBP-12; FKBP-1A; FKBP1; FKBP12; PKC12; PKCI2; PPIASE" /coded_by="NM_001199786.1:175..468" /note="isoform b is encoded by transcript variant 3" /db_xref="CCDS:CCDS74688.1" /db_xref="GeneID:2280" /db_xref="HGNC:HGNC:3711" /db_xref="MIM:186945" ORIGIN 1 mgvqvetisp gdgrtfpkrg qtcvvhytde cgsesqtdyi srlclwchwa prhhpttchs 61 rlrcgasktg mtgmasslss lfldlpwrdl vppdmct // LOCUS NP_612561 63 aa linear PRI 27-JUL-2020 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 Gago-Lopez N, Mellor LF, Megias D, Martin-Serrano G, Izeta A, Jimenez F and Wagner EF. TITLE Role of bulge epidermal stem cells and TSLP signaling in psoriasis JOURNAL EMBO Mol Med 11 (11), e10697 (2019) PUBMED 31556482 REMARK GeneRIF: Mechanistically, thymic stromal lymphopoietin (TSLP) was identified in c-JUN and JUNB mutant cells as a paracrine factor stimulating proliferation of neighboring non-mutant epidermal cells, while mutant inter-follicular epidermal (IFE) cells are lost over time. REFERENCE 2 (residues 1 to 63) AUTHORS Tashiro N, Segawa R, Tobita R, Asakawa S, Mizuno N, Hiratsuka M and Hirasawa N. TITLE Hypoxia inhibits TNF-alpha-induced TSLP expression in keratinocytes JOURNAL PLoS ONE 14 (11), e0224705 (2019) PUBMED 31682627 REMARK GeneRIF: Study in human keratinocyte HaCaT and in mouse keratinocyte PAM212 cell lines suggested that inactivation of prolyl hydroxylase by hypoxia and hypoxia-mimicking conditions is involved in the repression of TNF-alpha-induced TSLP expression. Results indicated that hypoxia and hypoxia-mimicking conditions inhibited TSLP expression via HIF-2 and HRE-dependent mechanisms. 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:317604" 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_001002923 124 aa linear PRI 28-JUL-2020 DEFINITION insulin growth factor-like family member 4 precursor [Homo sapiens]. ACCESSION NP_001002923 VERSION NP_001002923.1 DBSOURCE REFSEQ: accession NM_001002923.3 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 124) AUTHORS Emtage P, Vatta P, Arterburn M, Muller MW, Park E, Boyle B, Hazell S, Polizotto R, Funk WD and Tang YT. TITLE IGFL: A secreted family with conserved cysteine residues and similarities to the IGF superfamily JOURNAL Genomics 88 (4), 513-520 (2006) PUBMED 16890402 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC007785.1. Transcript Variant: This variant (1) represents the protein-coding transcript. ##Evidence-Data-START## Transcript exon combination :: AY672114.1 [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..124 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.32" Protein 1..124 /product="insulin growth factor-like family member 4 precursor" /note="insulin growth factor-like family member 4" /calculated_mol_wt=11838 sig_peptide 1..19 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6B9Z1.1)" /calculated_mol_wt=2065 mat_peptide 20..124 /product="Insulin growth factor-like family member 4. /id=PRO_0000045062" /note="propagated from UniProtKB/Swiss-Prot (Q6B9Z1.1)" /calculated_mol_wt=11838 Region 20..108 /region_name="IGFL" /note="Insulin growth factor-like family; pfam14653" /db_xref="CDD:291325" Site 57 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6B9Z1.1)" Site 84 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q6B9Z1.1)" CDS 1..124 /gene="IGFL4" /coded_by="NM_001002923.3:41..415" /db_xref="CCDS:CCDS33057.1" /db_xref="GeneID:444882" /db_xref="HGNC:HGNC:32931" /db_xref="MIM:610547" ORIGIN 1 mvprisaaif ifellgsnse gvtdlrlwlc qpaprcgewt ynpleqccdd gvildlnqtr 61 lcgssctfwp cfqhcclesl gsqnqtvvrf kvpgmkpdck sspitricaq eyhpkspvsr 121 sdli // LOCUS NP_001372666 450 aa linear PRI 28-JUL-2020 DEFINITION nuclear pore complex-interacting protein family member B15 isoform 1 [Homo sapiens]. ACCESSION NP_001372666 VERSION NP_001372666.1 DBSOURCE REFSEQ: accession NM_001385737.1 KEYWORDS RefSeq. SOURCE Homo 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 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 AC009053.7. Transcript Variant: This variant (1) encodes the longest isoform (1). ##Evidence-Data-START## Transcript exon combination :: SRR5189667.218866.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..450 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16q23.1" Protein 1..450 /product="nuclear pore complex-interacting protein family member B15 isoform 1" /note="nuclear pore complex interacting protein-like 2" /calculated_mol_wt=51529 CDS 1..450 /gene="NPIPB15" /gene_synonym="A-761H5.4; NPIPL2" /coded_by="NM_001385737.1:340..1692" /note="isoform 1 is encoded by transcript variant 1" /db_xref="GeneID:440348" /db_xref="HGNC:HGNC:34409" ORIGIN 1 mtlrnpgssg rkespeagtg swlgrtrnqv inslavyrhr etdfgvgvrd hpgqhgktps 61 pqkldnliii iigflrrdtf tilfctsylc vsflktifws rnghdgstdv qqrawrsnrs 121 rqkglrsicm htkkrvssfr gnkiglkdvi tlrrhvetkv rakirkrkvt tkinrhdkin 181 gkrktarkqk mfqraqelrr raedyhkcki ppsarkplcn wvrmaaaehr hssglpcwpy 241 ltaealknrm grqpppptqq hsitdnslsl ktppecllhp lppsvddnik ecplaplpps 301 vddnlkeyll vplppsplpp svddnlkdcl fvplppsplp psvddnlktp platqeaeae 361 kppkpkrwrv deveqspkpk rrradeveqs pkpkrqreae aqqlpkpkrr rlsklrtrhc 421 tqawairinp wvekkkkikk qnkthapktn // LOCUS NP_001293023 443 aa linear PRI 28-JUL-2020 DEFINITION nuclear pore complex-interacting protein family member B15 isoform 2 precursor [Homo sapiens]. ACCESSION NP_001293023 XP_011506978 XP_011521799 VERSION NP_001293023.1 DBSOURCE REFSEQ: accession NM_001306094.1 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 443) 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 AC009053.7. On or before Apr 14, 2015 this sequence version replaced XP_011521799.1, XP_011506978.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence because no single transcript was available for the full length of the gene. The genomic coordinates used for the transcript record were based on paralogous transcript alignments. CCDS Note: This gene lacks full-length transcript support, and thus the exon combination of this CCDS representation is inferred based on paralogous transcript alignments and RNA-seq data. ##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 RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..443 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16q23.1" Protein 1..443 /product="nuclear pore complex-interacting protein family member B15 isoform 2 precursor" /note="nuclear pore complex interacting protein-like 2" /calculated_mol_wt=48970 sig_peptide 1..18 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2315 mat_peptide 19..443 /product="Nuclear pore complex-interacting protein family member B15. /id=PRO_0000367122" /note="propagated from UniProtKB/Swiss-Prot (A6NHN6.3)" /calculated_mol_wt=48970 Region 23..299 /region_name="NPIP" /note="Nuclear pore complex interacting protein (NPIP); pfam06409" /db_xref="CDD:283949" Site 111 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A6NHN6.3)" CDS 1..443 /gene="NPIPB15" /gene_synonym="A-761H5.4; NPIPL2" /coded_by="NM_001306094.1:23..1354" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS76897.1" /db_xref="GeneID:440348" /db_xref="HGNC:HGNC:34409" 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 NP_001372667 321 aa linear PRI 28-JUL-2020 DEFINITION nuclear pore complex-interacting protein family member B15 isoform 3 [Homo sapiens]. ACCESSION NP_001372667 VERSION NP_001372667.1 DBSOURCE REFSEQ: accession NM_001385738.1 KEYWORDS RefSeq. SOURCE Homo 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 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 AC009053.7. ##Evidence-Data-START## Transcript exon combination :: SRR5189667.164797.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..321 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16q23.1" Protein 1..321 /product="nuclear pore complex-interacting protein family member B15 isoform 3" /note="nuclear pore complex interacting protein-like 2" /calculated_mol_wt=36928 CDS 1..321 /gene="NPIPB15" /gene_synonym="A-761H5.4; NPIPL2" /coded_by="NM_001385738.1:975..1940" /note="isoform 3 is encoded by transcript variant 3" /db_xref="GeneID:440348" /db_xref="HGNC:HGNC:34409" ORIGIN 1 mhtkkrvssf rgnkiglkdv itlrrhvetk vrakirkrkv ttkinrhdki ngkrktarkq 61 kmfqraqelr rraedyhkck ippsarkplc nwvrmaaaeh rhssglpcwp yltaealknr 121 mgrqpppptq qhsitdnsls lktppecllh plppsvddni kecplaplpp svddnlkeyl 181 lvplppsplp psvddnlkdc lfvplppspl ppsvddnlkt pplatqeaea ekppkpkrwr 241 vdeveqspkp krrradeveq spkpkrqrea eaqqlpkpkr rrlsklrtrh ctqawairin 301 pwvekkkkik kqnkthapkt n // LOCUS NP_001358973 1806 aa linear PRI 31-JUL-2020 DEFINITION SH3 and multiple ankyrin repeat domains protein 3 [Homo sapiens]. ACCESSION NP_001358973 NP_277052 VERSION NP_001358973.1 DBSOURCE REFSEQ: accession NM_001372044.2 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 1806) AUTHORS Tu Z, Zhao H, Li B, Yan S, Wang L, Tang Y, Li Z, Bai D, Li C, Lin Y, Li Y, Liu J, Xu H, Guo X, Jiang YH, Zhang YQ and Li XJ. TITLE CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms JOURNAL Hum. Mol. Genet. 28 (4), 561-571 (2019) PUBMED 30329048 REMARK GeneRIF: We have used clustered regularly interspersed short palindromic repeat/CRISPR-associated nuclease 9 to generate a cynomolgus monkey model by disrupting SHANK3 at exons 6 and 12. Analysis of the live mutant monkey revealed the core behavioral abnormalities of ASD, including impaired social interaction and repetitive behaviors, and reduced brain network activities detected by positron-emission computed tomography REFERENCE 2 (residues 1 to 1806) AUTHORS Kanani F, Study D and Balasubramanian M. TITLE SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature JOURNAL Clin. Dysmorphol. 27 (4), 113-115 (2018) PUBMED 29939863 REMARK GeneRIF: Our report details a 10-year-old boy with a de novo heterozygous c.1231del, p.Arg411Val frameshift variant in SHANK3, a high-risk candidate autism gene. We report significant speech delay and seizures as an association with this phenotype. Review article REFERENCE 3 (residues 1 to 1806) AUTHORS Kerrisk Campbell M and Sheng M. TITLE USP8 Deubiquitinates SHANK3 to Control Synapse Density and SHANK3 Activity-Dependent Protein Levels JOURNAL J. Neurosci. 38 (23), 5289-5301 (2018) PUBMED 29735556 REMARK GeneRIF: we identify USP8 as a key enzyme that regulates SHANK3 protein levels in neurons REFERENCE 4 (residues 1 to 1806) AUTHORS Waga C, Okamoto N, Ondo Y, Fukumura-Kato R, Goto Y, Kohsaka S and Uchino S. TITLE Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development JOURNAL Psychiatr. Genet. 21 (4), 208-211 (2011) PUBMED 21378602 REMARK GeneRIF: The SHANK3 gene was analyzed in 128 autistic patients with manifestations similar to those seen in the 22q13.3 deletion syndrome. REFERENCE 5 (residues 1 to 1806) AUTHORS Kolevzon A, Cai G, Soorya L, Takahashi N, Grodberg D, Kajiwara Y, Willner JP, Tryfon A and Buxbaum JD. TITLE Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities JOURNAL Brain Res. 1380, 98-105 (2011) PUBMED 21062623 REMARK GeneRIF: [review] The presumptive exon containing the variant in the neurodevelopmentally disabled autism case highlighted in this review is not likely to be present in most or all SHANK3 transcripts. Review article REFERENCE 6 (residues 1 to 1806) AUTHORS Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, Rastam M, Gillberg IC, Anckarsater H, Sponheim E, Goubran-Botros H, Delorme R, Chabane N, Mouren-Simeoni MC, de Mas P, Bieth E, Roge B, Heron D, Burglen L, Gillberg C, Leboyer M and Bourgeron T. TITLE Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders JOURNAL Nat. Genet. 39 (1), 25-27 (2007) PUBMED 17173049 REMARK GeneRIF: Mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. REFERENCE 7 (residues 1 to 1806) AUTHORS Wilson HL, Wong AC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J and McDermid HE. TITLE Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms JOURNAL J. Med. Genet. 40 (8), 575-584 (2003) PUBMED 12920066 REMARK GeneRIF: Haploinsufficiency of the gene SHANK3, which codes for a structural protein of the postsynaptic density, may be a major causative factor in the neurological symptoms of 22q13 deletion syndrome. REFERENCE 8 (residues 1 to 1806) AUTHORS Lim S, Naisbitt S, Yoon J, Hwang JI, Suh PG, Sheng M and Kim E. TITLE Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development JOURNAL J. Biol. Chem. 274 (41), 29510-29518 (1999) PUBMED 10506216 REFERENCE 9 (residues 1 to 1806) AUTHORS Boeckers TM, Kreutz MR, Winter C, Zuschratter W, Smalla KH, Sanmarti-Vila L, Wex H, Langnaese K, Bockmann J, Garner CC and Gundelfinger ED. TITLE Proline-rich synapse-associated protein-1/cortactin binding protein 1 (ProSAP1/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density JOURNAL J. Neurosci. 19 (15), 6506-6518 (1999) PUBMED 10414979 REFERENCE 10 (residues 1 to 1806) AUTHORS Phelan,K., Rogers,R.C. and Boccuto,L. TITLE Phelan-McDermid Syndrome JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K and Amemiya A (Eds.); GENEREVIEWS((R)); (1993) PUBMED 20301377 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC000050.22, AB569469.1 and AC000036.5. This sequence is a reference standard in the RefSeqGene project. On Sep 3, 2019 this sequence version replaced NP_277052.1. Summary: This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012]. Sequence Note: CAGE data and conservation lead to an extension of the 5' end of NM_033517.1. Coupled with a 2 nt indel in the reference genome sequence, this allowed the protein to extend 75 aa further N-terminally, so a new record was needed (NM_001372044.1). This further 5' UTR extension is creating NM_001372044.2. 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. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1806 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="22" /map="22q13.33" Protein 1..1806 /product="SH3 and multiple ankyrin repeat domains protein 3" /note="shank postsynaptic density protein; proline rich synapse associated protein 2" /calculated_mol_wt=191207 Region 83..169 /region_name="FERM_F0_SHANK3" /note="FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F0 sub-domain, found in SH3 and multiple ankyrin repeat domains protein 3 (SHANK3); cd17177" /db_xref="CDD:340697" Region 200..392 /region_name="ANKYR" /note="Ankyrin repeat [Signal transduction mechanisms]; COG0666" /db_xref="CDD:223738" Region 223..255 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Site order(257,259,263..264,267..269,271..272,276,279,288,290, 292,330..331,334..336,338..339,343,346,355,357,359, 363..364,367..369,371..372,376,379,388) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 257..288 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 290..355 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 329..410 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:372319" Region 357..388 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 549..600 /region_name="SH3_Shank3" /note="Src homology 3 domain of SH3 and multiple ankyrin repeat domains protein 3; cd11984" /db_xref="CDD:212917" Site order(555,557,560,564,582..583,596,598..599) /site_type="other" /note="peptide ligand binding site [polypeptide binding]" /db_xref="CDD:212917" Region 648..737 /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(656..659,661,722,725..726) /site_type="other" /note="protein binding site [polypeptide binding]" /db_xref="CDD:238492" Region <1208..>1412 /region_name="PRK12323" /note="DNA polymerase III subunit gamma/tau" /db_xref="CDD:237057" Region 1739..1804 /region_name="SAM_Shank1,2,3" /note="SAM domain of Shank1,2,3 family proteins; cd09506" /db_xref="CDD:188905" CDS 1..1806 /gene="SHANK3" /gene_synonym="DEL22q13.3; PROSAP2; PSAP2; SCZD15; SPANK-2" /coded_by="NM_001372044.2:371..5791" /db_xref="GeneID:85358" /db_xref="HGNC:HGNC:14294" /db_xref="MIM:606230" ORIGIN 1 mqlsraaaaa aaapaeppep lspapapapa ppgplprsaa dgapaggkgg pgrraespga 61 pfpgasgpgp gpgagmdgpg asavvvrvgi pdlqqtkclr ldpaapvwaa kqrvlcalnh 121 slqdalnygl fqppsrgrag kfldeerllq eyppnldtpl pylefrykrr vyaqnliddk 181 qfaklhtkan lkkfmdyvql hstdkvarll dkgldpnfhd pdsgecplsl aaqldnatdl 241 lkvlknggah ldfrtrdglt avhcatrqrn aaalttlldl gaspdykdsr gltplyhsal 301 gggdalccel llhdhaqlgi tdengwqeih qacrfghvqh lehllfygad mgaqnasgnt 361 alhicalynq escarvllfr ganrdvrnyn sqtafqvaii agnfelaevi kthkdsdvvp 421 fretpsyakr rrlagpsgla sprplqrsas dinlkgeaqp aaspgpslrs lphqlllqrl 481 qeekdrdrda dqesnisgpl agragqskis psgpggpgpa pgpgpappap pappprgpkr 541 klysavpgrk fiavkahspq gegeiplhrg eavkvlsige ggfwegtvkg rtgwfpadcv 601 eevqmrqhdt rpetredrtk rlfrhytvgs ydsltshsdy viddkvavlq krdhegfgfv 661 lrgakaetpi eeftptpafp alqylesvdv egvawraglr tgdflievng vnvvkvghkq 721 vvalirqggn rlvmkvvsvt rkpeedgarr rappppkrap sttltlrsks mtaeleelas 781 irrrkgekld emlaaaaept lrpdiadads raatvkqrpt srritpaeis slferqglpg 841 peklpgslrk giprtksvge deklaslleg rfprstsmqd pvregrgipp ppqtappppp 901 apyyfdsgpp pafspppppg raydtvrssf kpglearlga gaaglyepga algplpyper 961 qkrarsmiil qdsapesgda prpppaatpp erpkrrprpp gpdspyanlg afsaslfaps 1021 kpqrrksplv kqlqvedaqe raalavgspg pgggsfarep spthrgprpg gldygagdgp 1081 glafggpgpa kdrrleerrr stvflsvgai egsapgadlp slqpsrside rllgtgptag 1141 rdlllpspvs alkplvsgps lgpsgstfih pltgkpldps splalalaar eralasqaps 1201 rsptpvhspd adrpgplfvd vqardpergs laspafsprs pawipvparr eaekvpreer 1261 kspedkksmi lsvldtslqr paglivvhat sngqepsrlg gaeeerpgtp elapapmqsa 1321 avaeplpspr aqppggtpad agpgqgssee epelvfavnl ppaqlsssde etreelarig 1381 lvpppeefan gvllatplag pgpspttvps pasgkpssep ppapesaads gveeadtrss 1441 sdphlettst istvssmstl ssesgeltdt htsfadghtf llekppvppk pklksplgkg 1501 pvtfrdpllk qssdselmaq qhhaasagla saagparpry lfqrrsklwg dpvesrglpg 1561 peddkptvis elssrlqqln kdtrslgeep vgglgslldp akkspiaaar lfsslgelss 1621 isaqrspggp gggasysvrp sgrypvarra pspvkpasle rveglgagag gagrpfgltp 1681 ptilksssls iphepkevrf vvrsvsarsr spspsplpsp asgpgpgapg prrpfqqkpl 1741 qlwskfdvgd wlesihlgeh rdrfedheie gahlpaltkd dfvelgvtrv ghrmnieral 1801 rqldgs // LOCUS NP_001372904 309 aa linear PRI 31-JUL-2020 DEFINITION olfactory receptor 6C4 [Homo sapiens]. ACCESSION NP_001372904 VERSION NP_001372904.1 DBSOURCE REFSEQ: accession NM_001385975.1 KEYWORDS RefSeq. SOURCE Homo 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 Goodbourn PT, Bosten JM, Bargary G, Hogg RE, Lawrance-Owen AJ and Mollon JD. TITLE Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia JOURNAL Genes Brain Behav. 13 (2), 144-151 (2014) PUBMED 24152035 REFERENCE 2 (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 3 (residues 1 to 309) AUTHORS Youngblood K, Fruchter L, Ding G, Lopez J, Bonagura V and Davidson A. TITLE Rheumatoid factors from the peripheral blood of two patients with rheumatoid arthritis are genetically heterogeneous and somatically mutated JOURNAL J. Clin. Invest. 93 (2), 852-861 (1994) PUBMED 7509350 REFERENCE 4 (residues 1 to 309) AUTHORS Lauzurica P, Bragado R, Lopez D, Galocha B and Lopez de Castro JA. TITLE Asymmetric selection of T cell antigen receptor alpha- and beta-chains in HLA-B27 alloreactivity JOURNAL J. Immunol. 148 (11), 3624-3630 (1992) PUBMED 1316921 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC009779.18. 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..309 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q13.2" Protein 1..309 /product="olfactory receptor 6C4" /note="olfactory receptor OR12-10" /calculated_mol_wt=34879 Site 3 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGE1.1)" Site 24..44 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE1.1)" Site 53..73 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE1.1)" Site 98..118 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE1.1)" Site 138..158 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE1.1)" Site 196..215 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE1.1)" Site 236..256 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE1.1)" Site 270..290 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGE1.1)" CDS 1..309 /gene="OR6C4" /gene_synonym="OR12-10" /coded_by="NM_001385975.1:384..1313" /db_xref="GeneID:341418" /db_xref="HGNC:HGNC:19632" ORIGIN 1 mknrtmfgef illgltnqpe lqvmififlf ltymlsilgn ltiitltlld phlqtpmyff 61 lrnfsfleis ftsifiprfl tsmttgnkvi sfagcltqyf faiflgatef yllasmsydr 121 yvaickplhy ltimssrvci qlvfcswlgg flailppiil mtqvdfcvsn ilnhyycdyg 181 plvelacsdt sllelmvill avvtlmvtlv lvtlsytyii rtilripsaq qrtkafstcs 241 shmivislsy gscmfmyinp sakeggafnk giavlitsvt pllnpfiytl rnqqvkqafk 301 dsvkkivkl // LOCUS NP_001300832 532 aa linear PRI 02-AUG-2020 DEFINITION nuclear factor erythroid 2-related factor 2 isoform 5 [Homo sapiens]. ACCESSION NP_001300832 VERSION NP_001300832.1 DBSOURCE REFSEQ: accession NM_001313903.1 KEYWORDS RefSeq. SOURCE Homo 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 Arefin S, Buchanan S, Hobson S, Steinmetz J, Alsalhi S, Shiels PG, Kublickiene K and Stenvinkel P. TITLE Nrf2 in early vascular ageing: Calcification, senescence and therapy JOURNAL Clin. Chim. Acta 505, 108-118 (2020) PUBMED 32097628 REMARK GeneRIF: The present review discusses the impact of Nrf2 in senescence and calcification in early vascular ageing, with focus on the potential clinical implications of Nrf2 agonists and non-pharmacological Nrf2 therapeutics--{REVIEW} Review article REFERENCE 2 (residues 1 to 532) AUTHORS Yu D, Liu Y, Zhou Y, Ruiz-Rodado V, Larion M, Xu G and Yang C. TITLE Triptolide suppresses IDH1-mutated malignancy via Nrf2-driven glutathione metabolism JOURNAL Proc. Natl. Acad. Sci. U.S.A. 117 (18), 9964-9972 (2020) PUBMED 32312817 REMARK GeneRIF: Mechanistically, triptolide compromised the expression of GCLC, GCLM, and SLC7A11, which disrupted glutathione metabolism and established synthetic lethality with reactive oxygen species derived from IDH1 mutant neomorphic activity. Our findings highlight triptolide as a valuable therapeutic approach for IDH1-mutated malignancies by targeting the Nrf2-driven glutathione synthesis pathway. REFERENCE 3 (residues 1 to 532) AUTHORS Yu YP, Cai LC, Wang XY, Cheng SY, Zhang DM, Jian WG, Wang TD, Yang JK, Yang KB and Zhang C. TITLE BMP8A promotes survival and drug resistance via Nrf2/TRIM24 signaling pathway in clear cell renal cell carcinoma JOURNAL Cancer Sci. 111 (5), 1555-1566 (2020) PUBMED 32128917 REMARK GeneRIF: Nuclear factor erythroid 2-related factor 2 (Nrf2) pathway is activated upon bone morphogenetic protein 8A (BMP8) treatment in clear cell renal cell carcinoma (ccRCC). Nrf2 promotes the transcriptional activation of tripartite motif-containing 24 protein (TRIM24) in clear cell renal cell carcinoma. BMP8A/Nrf2/TRIM24-induced reactive oxygen species imbalance and Wnt pathway activation correlates with As2O3 resistance. REFERENCE 4 (residues 1 to 532) AUTHORS Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG, Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF, Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth 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 532) AUTHORS Liu P, Dodson M, Fang D, Chapman E and Zhang DD. TITLE NRF2 negatively regulates primary ciliogenesis and hedgehog signaling JOURNAL PLoS Biol. 18 (2), e3000620 (2020) PUBMED 32053600 REMARK GeneRIF: Transcription factor nuclear factor-erythroid 2-like 2 (NRF2) suppresses hedgehog (Hh) signaling through Patched 1 (PTCH1) and primary ciliogenesis via p62/sequestosome 1 (SQSTM1). NRF2 suppresses primary cilia formation through p62-dependent inclusion body formation and blockage of Bardet-Biedl syndrome 4 (BBS4) entrance into cilia. 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, BP228042.1 and AW471118.1. 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 :: BP228042.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968189, SAMEA2142348 [ECO:0000350] ##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" /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_001313903.1:556..2154" /note="isoform 5 is encoded by transcript variant 7" /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_002448 5289 aa linear PRI 02-AUG-2020 DEFINITION mucin-2 precursor [Homo sapiens]. ACCESSION NP_002448 XP_370601 VERSION NP_002448.4 DBSOURCE REFSEQ: accession NM_002457.4 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 5289) AUTHORS Hayakawa S, Matsushita T, Yokoi Y, Wakui H, Garcia-Martin F, Hinou H, Matsuoka K, Nouso K, Kamiyama T, Taketomi A and Nishimura SI. TITLE Impaired O-Glycosylation at Consecutive Threonine TTX Motifs in Mucins Generates Conformationally Restricted Cancer Neoepitopes JOURNAL Biochemistry 59 (12), 1221-1241 (2020) PUBMED 32155332 REMARK GeneRIF: Specific conformation of glycosylated consecutive threonine motifs (TTX) motifs in MUC2 neoepitopes tandem repeats (TRs) is rationally rearranged by concerted motions of multiple dihedral angles and noncovalent interactions between the carbohydrate and peptide region. Autoantibody levels in sera of the late stage colorectal cancer (CRC) patients were distinctly lower than those of early stage CRC and normal individuals. REFERENCE 2 (residues 1 to 5289) AUTHORS Song S, Li X, Geng C, Li Y and Wang C. TITLE Somatostatin stimulates colonic MUC2 expression through SSTR5-Notch-Hes1 signaling pathway JOURNAL Biochem. Biophys. Res. Commun. 521 (4), 1070-1076 (2020) PUBMED 31733832 REMARK GeneRIF: Somatostatin could participate in colonic mucus barrier regulation through SSTR5-Notch-Hes1-MUC2 signaling pathway. REFERENCE 3 (residues 1 to 5289) AUTHORS Lee YM, Park JP, Jung YH, Lee HJ, Kim JS, Choi GE, Han HJ and Lee SJ. TITLE Melatonin restores Muc2 depletion induced by V. vulnificus VvpM via melatonin receptor 2 coupling with Galphaq JOURNAL J. Biomed. Sci. 27 (1), 21 (2020) PUBMED 31906951 REMARK GeneRIF: hese results demonstrate that melatonin acting on MT2 inhibits the hypermethylation of the Muc2 promoter to restore the level of Muc2 production in intestinal epithelial cells infected with V. vulnificus. Publication Status: Online-Only REFERENCE 4 (residues 1 to 5289) AUTHORS Meng X, Wang W, Lan T, Yang W, Yu D, Fang X and Wu H. TITLE A Purified Aspartic Protease from Akkermansia Muciniphila Plays an Important Role in Degrading Muc2 JOURNAL Int J Mol Sci 21 (1), E72 (2019) PUBMED 31861919 REMARK GeneRIF: A purified aspartic protease from Akkermansia Muciniphila promotes the adhesion of colon cancer cell line LS174T, which can highly express Muc2. It can degrade Muc2 of colon cancer cells. Publication Status: Online-Only REFERENCE 5 (residues 1 to 5289) 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. 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 5289) 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 5289) 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 5289) 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 5289) 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 5289) 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 AC256300.1. This sequence is a reference standard in the RefSeqGene project. On Oct 19, 2016 this sequence version replaced NP_002448.3. 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 RefSeq record was created from genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: mixed/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..5289 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11p15.5" Protein 1..5289 /product="mucin-2 precursor" /note="mucin 2, intestinal/tracheal" /calculated_mol_wt=548974 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:0000244|PubMed:18669648; propagated from UniProtKB/Swiss-Prot (Q02817.2)" Site 163 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q02817.2)" Site 423 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q02817.2)" Site 670 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q02817.2)" Site 770 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q02817.2)" Site 894 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q02817.2)" Site 1139 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q02817.2)" Site 1154 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q02817.2)" Site 1215 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q02817.2)" Site 1230 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q02817.2)" Site 1246 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q02817.2)" CDS 1..5289 /gene="MUC2" /gene_synonym="MLP; MUC-2; SMUC" /coded_by="NM_002457.4:28..15897" /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 tttmttlppt 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 mvtptptptg tqtltptpit ttttvtptpt ptgtqtptst pisttttvtp tptptgtqtp 2101 tltpittttt vtptptptgt qtptttpitt tttvtptptp tgtksttpts ittttmvtpt 2161 ppptgtqtpt ttpitttttv tptptptgtq tptptpittt ttvtptptpt gtqtptstpi 2221 ttnttvtptp tptgtpsttl tpittttmvt ptptptgtqt ptstpisttt tvtptptptg 2281 tqtptptpis ttttvtptpt ptstqtpttt pitttttvtp nptptgtqtp tttpittttt 2341 vtptptptgt qtptttpist tttvtptptp tgtqtpttta itttttvtpt ptptgtqtpt 2401 stpitttttv tptptptgtq tptstpisnt ttvtptptpt gtqtptvtpi tttttvtptr 2461 tptgtksttp tsittttmvt ptptptgtht ptttpitttt tvtptptptg tqtptptpit 2521 ttttvtptpt ptgtqtptst pitttttvtp tptptgtqtp tttpittntt vtptptptgt 2581 qtpttvlitt tttmtptptp tstksttvtp itttttvtpt ptptgtqstt ltpitttttv 2641 tptptptgtq tptttpistt ttviptptpt gtqtptstpi tttttvtptp tptgtqtpts 2701 tpisttttvt ptatptgtqt ptltpitttt tvtstptptg tqtptptpit ttttvtptpt 2761 ptstqtptst pitttttvtp tptptgtqtp ttthittttt vtptptptgt qaptptaitt 2821 tttvtptptp tgtqtptttp itttttvtpt ptptgtqspt ptaitttttv tptptptgtq 2881 tptttpittt ttvtptptpt gtqsttltpi tttttvtpip tptgtqtpts tpitttitvt 2941 ptptptgtqt ptptpisttt tvtptptptg tqtptttpit ttttvtptpt ptgtqtpttt 3001 pisttttvtp tptptgtqtp tstpittttt vtptptptgt qtptptpitt tttvtptptp 3061 tgtqtptstp itttttvtpt ptptgtqtpt ptpitttttv tptptptgtq tptstpittt 3121 ttvtptptpt gtqtptttpi tttttvtptp tptgtqsttl tpitttttvt ptptptgtqt 3181 ptstpitttt tvtptptgtq tptptpistt ttvtptptpt gtqtptmtpi tttttvtptp 3241 tptgtqtptt tpisttttvt ptptptgtqt ptstpitttt tvtptptptg tqtptttpit 3301 ttttvtptpt ptgtqsttlt pitttttvtp tptptgtqtp tptpistttt vtptptptgt 3361 qtptttpitt tttvtptptp tgtqtptttp isttttvtpt ptptgtqtpt stpitttttv 3421 tptptptgtq tptttpittt ttvtptptpt gtqaptptai tttttvtptp tptgtqtptt 3481 tpittttmvt ptptptgtqt ptstpitttt tvtptptptg tqtptptpis ttttvtptpt 3541 ptgtqtpttt pitttttvtp tptptgtqtp tttpistttt vtptptptgt qtptstpitt 3601 tttvtptptp tgtqtptptp itttttvtpt ptptgtqtpt stpitttttv tptptptgtq 3661 tptttpittt ttvtptptpt gtqsttltpi tttttvtptp tptgtqtpts tpitttttvt 3721 ptptptgtqt ptptpistts tvtptptptg tqtptmtpit ttttvtptpt ptgtqtptst 3781 pitttttvtp tptptgtqtp tmtpittttt vtptptptgt qaptptaitt tttvtptptp 3841 tgtqtptttp itttttvtpt ptptgtqstt ltpitttttv tptptptgtq tptptpistt 3901 ttvtptptpt gtqtptmtpi tttttvtptp tptgtqtptt tpisttttvt ptptptgtqt 3961 ptttpitttt tvtptptptg tqtptttpis ttttvtptpt ptgtqtpttt pitttttvtp 4021 tptptgtqtp tttpistttt vtptptptgt qtptstpitt tttvtptptp tgtqtptttp 4081 itttttvtpt ptptgtqapt ptaitttstv tptptptgtq tptttpittt ttvtptptpt 4141 gtqsptptai tttttvtptp tptgtqtptl tpitttttvt ptptptgtqt ptptpisttt 4201 tvtptptptg tqtptttpit ttttvtptpt ptgtqtpttv litttttmtp tptptstkst 4261 tvtpittttt vtatptptgt qtptmipist tttvtptptp ttgstgppth tstapiaelt 4321 tsnpppesst pqtsrstssp ltesttllst lppaiemtst appstptapt ttsgghtlsp 4381 ppstttsppg tptrgtttgs ssaptpstvq ttttsawtpt ptplstpsii rttglrpyps 4441 svliccvlnd tyyapgeevy ngtygdtcyf vncslsctle fynwscpstp sptptpskst 4501 ptpskpsstp skptpgtkpp ecpdfdpprq enetwwlcdc fmatckynnt veivkvecep 4561 ppmptcsngl qpvrvedpdg ccwhwecdcy ctgwgdphyv tfdglyysyq gnctyvlvee 4621 ispsvdnfgv yidnyhcdpn dkvscprtli vrhetqevli ktvhmmpmqv qvqvnrqava 4681 lpykkyglev yqsginyvvd ipelgvlvsy nglsfsvrlp yhrfgnntkg qcgtctntts 4741 ddcilpsgei vsnceaaadq wlvndpskph cphsssttkr pavtvpgggk ttphkdctps 4801 plcqlikdsl faqchalvpp qhyydacvfd scfmpgssle caslqayaal caqqnicldw 4861 rnhthgaclv ecpshreyqa cgpaeeptck ssssqqnntv lvegcfcpeg tmnyapgfdv 4921 cvktcgcvgp dnvprefgeh fefdckncvc leggsgiicq pkrcsqkpvt hcvedgtyla 4981 tevnpadtcc nitvckcnts lckekpsvcp lgfevkskmv pgrccpfywc eskgvcvhgn 5041 aeyqpgspvy sskcqdcvct dkvdnntlln viacthvpcn tscspgfelm eapgecckkc 5101 eqthciikrp dnqhvilkpg dfksdpknnc tffscvkihn qlissvsnit cpnfdasici 5161 pgsitfmpng ccktctprne trvpcstvpv ttevsyagct ktvlmnhcsg scgtfvmysa 5221 kaqaldhscs cckeektsqr evvlscpngg slthtythie scqcqdtvcg lptgtsrrar 5281 rsprhlgsg // LOCUS NP_001300831 575 aa linear PRI 02-AUG-2020 DEFINITION nuclear factor erythroid 2-related factor 2 isoform 4 [Homo sapiens]. ACCESSION NP_001300831 VERSION NP_001300831.1 DBSOURCE REFSEQ: accession NM_001313902.1 KEYWORDS RefSeq. SOURCE Homo 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 Arefin S, Buchanan S, Hobson S, Steinmetz J, Alsalhi S, Shiels PG, Kublickiene K and Stenvinkel P. TITLE Nrf2 in early vascular ageing: Calcification, senescence and therapy JOURNAL Clin. Chim. Acta 505, 108-118 (2020) PUBMED 32097628 REMARK GeneRIF: The present review discusses the impact of Nrf2 in senescence and calcification in early vascular ageing, with focus on the potential clinical implications of Nrf2 agonists and non-pharmacological Nrf2 therapeutics--{REVIEW} Review article REFERENCE 2 (residues 1 to 575) AUTHORS Yu D, Liu Y, Zhou Y, Ruiz-Rodado V, Larion M, Xu G and Yang C. TITLE Triptolide suppresses IDH1-mutated malignancy via Nrf2-driven glutathione metabolism JOURNAL Proc. Natl. Acad. Sci. U.S.A. 117 (18), 9964-9972 (2020) PUBMED 32312817 REMARK GeneRIF: Mechanistically, triptolide compromised the expression of GCLC, GCLM, and SLC7A11, which disrupted glutathione metabolism and established synthetic lethality with reactive oxygen species derived from IDH1 mutant neomorphic activity. Our findings highlight triptolide as a valuable therapeutic approach for IDH1-mutated malignancies by targeting the Nrf2-driven glutathione synthesis pathway. REFERENCE 3 (residues 1 to 575) AUTHORS Yu YP, Cai LC, Wang XY, Cheng SY, Zhang DM, Jian WG, Wang TD, Yang JK, Yang KB and Zhang C. TITLE BMP8A promotes survival and drug resistance via Nrf2/TRIM24 signaling pathway in clear cell renal cell carcinoma JOURNAL Cancer Sci. 111 (5), 1555-1566 (2020) PUBMED 32128917 REMARK GeneRIF: Nuclear factor erythroid 2-related factor 2 (Nrf2) pathway is activated upon bone morphogenetic protein 8A (BMP8) treatment in clear cell renal cell carcinoma (ccRCC). Nrf2 promotes the transcriptional activation of tripartite motif-containing 24 protein (TRIM24) in clear cell renal cell carcinoma. BMP8A/Nrf2/TRIM24-induced reactive oxygen species imbalance and Wnt pathway activation correlates with As2O3 resistance. REFERENCE 4 (residues 1 to 575) AUTHORS Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG, Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF, Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth 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 575) AUTHORS Liu P, Dodson M, Fang D, Chapman E and Zhang DD. TITLE NRF2 negatively regulates primary ciliogenesis and hedgehog signaling JOURNAL PLoS Biol. 18 (2), e3000620 (2020) PUBMED 32053600 REMARK GeneRIF: Transcription factor nuclear factor-erythroid 2-like 2 (NRF2) suppresses hedgehog (Hh) signaling through Patched 1 (PTCH1) and primary ciliogenesis via p62/sequestosome 1 (SQSTM1). NRF2 suppresses primary cilia formation through p62-dependent inclusion body formation and blockage of Bardet-Biedl syndrome 4 (BBS4) entrance into cilia. Publication Status: Online-Only REFERENCE 6 (residues 1 to 575) 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 575) 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 575) 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 575) 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 575) 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, BI910808.1 and AW471118.1. 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 (6) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The resulting isoform (4) 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 :: BI910808.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##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="nuclear factor erythroid 2-related factor 2 isoform 4" /note="nuclear factor erythroid 2-related factor 2; nuclear factor erythroid-derived 2-like 2" /calculated_mol_wt=64270 Region 41..>74 /region_name="TPX2" /note="Targeting protein for Xklp2 (TPX2); pfam06886" /db_xref="CDD:284337" Region 464..531 /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 465..527 /region_name="coiled coil" /note="coiled coil [structural motif]" /db_xref="CDD:269868" Site order(473..474,476..478,480..485,487..489) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:269868" Site order(488,491..492,495..496,498..499,502..503,505..506, 509..510,512..513,516..517,519..520) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:269868" CDS 1..575 /gene="NFE2L2" /gene_synonym="HEBP1; IMDDHH; Nrf-2; NRF2" /coded_by="NM_001313902.1:556..2283" /note="isoform 4 is encoded by transcript variant 6" /db_xref="GeneID:4780" /db_xref="HGNC:HGNC:7782" /db_xref="MIM:600492" ORIGIN 1 mmdlelpppg lpsqqdmdli dilwrqdidl gvsrevfdfs qrrkeyelek qkklekerqe 61 qlqkeqekaf faqlqldeet geflpiqpaq hiqsetsgsa nysqvssatf qslvpdipgh 121 iespvfiatn qaqspetsva qvapvdldgm qqdieqvwee llsipelqcl niendklvet 181 tmvpspeakl tevdnyhfys sipsmekevg ncsphflnaf edsfssilst edpnqltvns 241 lnsdatvntd fgdefysafi aepsisnsmp spatlshsls ellngpidvs dlslckafnq 301 nhpestaefn dsdsgislnt spsvaspehs vesssygdtl lglsdsevee ldsapgsvkq 361 ngpktpvhss gdmvqplsps qgqsthvhda qcentpekel pvspghrktp ftkdkhssrl 421 eahltrdelr akalhipfpv ekiinlpvvd fnemmskeqf neaqlalird irrrgknkva 481 aqncrkrkle niveleqdld hlkdekekll kekgendksl hllkkqlstl ylevfsmlrd 541 edgkpyspse yslqqtrdgn vflvpkskkp dvkkn // LOCUS NP_001372981 308 aa linear PRI 04-AUG-2020 DEFINITION olfactory receptor 2T7 [Homo sapiens]. ACCESSION NP_001372981 VERSION NP_001372981.1 DBSOURCE REFSEQ: accession NM_001386052.1 KEYWORDS RefSeq. SOURCE Homo 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 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 308) 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 308) 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC138089.2. 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]. FEATURES Location/Qualifiers source 1..308 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q44" Protein 1..308 /product="olfactory receptor 2T7" /note="olfactory receptor, family 2, subfamily T, member 7 pseudogene; olfactory receptor OR1-44" /calculated_mol_wt=34156 Site 18..40 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7T2.1)" Site 52..74 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7T2.1)" Site 89..109 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7T2.1)" Site 131..151 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7T2.1)" Site 189..209 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7T2.1)" Site 236..256 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7T2.1)" Site 263..283 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7T2.1)" CDS 1..308 /gene="OR2T7" /gene_synonym="OR2T7P; OST723" /coded_by="NM_001386052.1:354..1280" /db_xref="GeneID:81458" /db_xref="HGNC:HGNC:15019" ORIGIN 1 mptlsfwvcs atpvspgffa lillvfvtsi asnvvkiili hidsrlhtpm yfllsqlslr 61 dilyistivp kmlvdqvmsq raisfagcta qhflyltlag aeffllglms cdryvaicnp 121 lhypdlmsrk icwlivaaaw lggsidgfll tpvtmqfpfc asreinhffc evpallklsc 181 tdtsayetam yvccimmlli pfsvisgsyt rilitvyrms eaegrrkava tcsshmvvvs 241 lfygaamyty vlphsyhtpe qdkavsafyt iltpmlnpli yslrnkdvtg alqkvvgrcv 301 ssgkvttf // LOCUS NP_001372989 317 aa linear PRI 05-AUG-2020 DEFINITION olfactory receptor 2T27 [Homo sapiens]. ACCESSION NP_001372989 VERSION NP_001372989.1 DBSOURCE REFSEQ: accession NM_001386060.1 KEYWORDS RefSeq. SOURCE Homo 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 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 317) 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 AC098483.2. 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]. Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein. FEATURES Location/Qualifiers source 1..317 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q44" Protein 1..317 /product="olfactory receptor 2T27" /note="olfactory receptor OR1-67" /calculated_mol_wt=35383 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NH04.1)" Site 23..43 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH04.1)" Site 61..83 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH04.1)" Site 98..118 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH04.1)" Site 140..160 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH04.1)" Site 198..218 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH04.1)" Site 245..265 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH04.1)" Site 272..292 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH04.1)" CDS 1..317 /gene="OR2T27" /coded_by="NM_001386060.1:239..1192" /db_xref="GeneID:403239" /db_xref="HGNC:HGNC:31252" ORIGIN 1 meqsnysvya dfillglfsn arfpwllfal illvfltsia snvvkiilih idsrlhtpmy 61 fllsqlslrd ilyistivpk mlvdqvmsqr aisfagctaq hflyltlaga effllglmsy 121 dryvaicnpl hypvlmsrki cwlivaaawl ggsidgfllt pvtmqfpfca sreinhffce 181 vpallklsct dtsayetamy vccimmllip fsvisgsytr ilitvyrmse aegrgkavat 241 csshmvvvsl fygaamytyv lphsyhtpeq dkavsafyti ltpmlnpliy slrnkdvtga 301 lqkvvgrcvs sgkvttf // LOCUS NP_001355087 407 aa linear PRI 06-AUG-2020 DEFINITION T-complex protein 11 X-linked protein 1 [Homo sapiens]. ACCESSION NP_001355087 XP_016885503 VERSION NP_001355087.1 DBSOURCE REFSEQ: accession NM_001368158.1 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 407) 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 AC234791.5. On Jan 18, 2019 this sequence version replaced XP_016885503.1. 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, SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..407 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq22.1" Protein 1..407 /product="T-complex protein 11 X-linked protein 1" /note="T-complex protein 11 homolog" /calculated_mol_wt=46271 CDS 1..407 /gene="TCP11X1" /coded_by="NM_001368158.1:330..1553" /db_xref="GeneID:100996631" /db_xref="HGNC:HGNC:48369" ORIGIN 1 mynafwnhlk eqllstppdf tcalellkdv kenrlrneie ealdtdllkq eaehgaldvp 61 hlsnyilnlm allcapvrde aiqkletird pvqllrgilr vlglmkmdmv nytiqsfrpy 121 lqehsiqyeq akfqelldkq pslldyttkw ltkaatditt lcpsspdsps sscsmvcslp 181 sgagnnsepp sptmvlyqgy lnlllwdlen vefpetllmd rirlqelafq lhqltvlasv 241 llvarsfsge vlfrspefvd rlkcttkalt eefisrpeet mlsvseqvsq evhqglkdmg 301 lttlssenta sllgqlqnit kkencirsiv dqwirfflkc cllhgmqesl lhfpgglili 361 ekelaelgwk flnlmhhnqq vfgpyyaeil khiihpaqaq etdvepn // LOCUS NP_001369375 651 aa linear PRI 06-AUG-2020 DEFINITION golgin subfamily A member 6-like protein 6 [Homo sapiens]. ACCESSION NP_001369375 XP_006720858 VERSION NP_001369375.1 DBSOURCE REFSEQ: accession NM_001382446.1 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 AC100756.5 and AC203659.3. On May 6, 2020 this sequence version replaced XP_006720858.1. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..651 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q11.2" Protein 1..651 /product="golgin subfamily A member 6-like protein 6" /calculated_mol_wt=81120 CDS 1..651 /gene="LOC102723623" /coded_by="NM_001382446.1:162..2117" /db_xref="GeneID:102723623" ORIGIN 1 mlmwpqphlp thphlpthph lpthpmmske trqsklaeak eqltdhhpqt npsvgtaasd 61 tkkkkinngt npetttsggc hspedeqkas hqhqealrre leaqvhtiri ltcqktelqm 121 alyysqhavk qlegeardli srlhdswkfa geleqalsav atqkkkadry ieeltkerda 181 lslelyrnti tdeelkekna klqeklqlve sekseiqlnv kelkrklera klllpqqqlq 241 aeadhlgkel qsvsaklqaq veenelwnrl nqqqeekmwr qeekiqewee kiqeqeekir 301 eqeekireqe ekmrrqeemm wekeekmrrq eemmwekeek mrrleemmwe keekirelee 361 kmheqekire qeekrqeeek ireqekrqeq eakmwrqeek ireqeekire qekkmwrqee 421 kiheqekire eekrqeqeem wrqeekireq eeiwrqkekm heqekirkqe ekvwrqeekm 481 hdqeekireq eekmwrqeek ireqeekire qeekireqee kireqeemmq eqeekmgeqe 541 ekmqeqekmr rqeekireqe ekireqkeki reqeekiweq eekireqeem mqeqeekmwe 601 qeekmceqee kmqeqeekmr rqeekmweqe vrlrqqeekm qehqehleaa i // LOCUS NP_149050 155 aa linear PRI 06-AUG-2020 DEFINITION putative keratin-associated protein 4-X [Homo sapiens]. ACCESSION NP_149050 XP_001725819 XP_002343555 VERSION NP_149050.3 DBSOURCE REFSEQ: accession NM_033061.3 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 155) 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 155) AUTHORS Kariya N, Shimomura Y and Ito M. TITLE Size polymorphisms in the human ultrahigh sulfur hair keratin-associated protein 4, KAP4, gene family JOURNAL J. Invest. Dermatol. 124 (6), 1111-1118 (2005) PUBMED 15955084 REFERENCE 3 (residues 1 to 155) 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. This record has been curated by NCBI staff in collaboration with Michael Rogers. The reference sequence was derived from AC100808.10. On or before Aug 25, 2009 this sequence version replaced XP_002343555.1, XP_001725819.1, NP_149050.2. Summary: This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Mar 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. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..155 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q21.2" Protein 1..155 /product="putative keratin-associated protein 4-X" /note="Ultrahigh sulfur keratin-associated protein 4.7" /calculated_mol_wt=16550 Region 3..154 /region_name="Keratin_B2" /note="Keratin, high sulfur B2 protein; pfam01500" /db_xref="CDD:279797" Region 44..88 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 74..110 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" CDS 1..155 /gene="KRTAP4-7" /gene_synonym="KAP4.7; KRTAP4.7" /coded_by="NM_033061.3:1..468" /db_xref="CCDS:CCDS45673.1" /db_xref="GeneID:100132476" /db_xref="HGNC:HGNC:18898" ORIGIN 1 mvssccgsvc sdqgcsqdlc qetccrpscc qttccrttcy rpsccvsscc rpqccqsvcc 61 qptccrptcc ettcchprcc issccrpscc msscckpqcc qsvccqptcc rpsccrpccc 121 lrpvcgrvsc httcyrptcv istcprplcc asscc // LOCUS NP_001013374 319 aa linear PRI 06-AUG-2020 DEFINITION olfactory receptor 8U8 [Homo sapiens]. ACCESSION NP_001013374 VERSION NP_001013374.2 DBSOURCE REFSEQ: accession NM_001013356.2 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 319) CONSRTM International Human Genome Sequencing Consortium TITLE Finishing the euchromatic sequence of the human genome JOURNAL Nature 431 (7011), 931-945 (2004) PUBMED 15496913 REFERENCE 2 (residues 1 to 319) AUTHORS Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann Y, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowki J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ and Szustakowki J. CONSRTM International Human Genome Sequencing Consortium TITLE Initial sequencing and analysis of the human genome JOURNAL Nature 409 (6822), 860-921 (2001) PUBMED 11237011 REMARK Erratum:[Nature 2001 Aug 2;412(6846):565] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC208786.2. On Jun 19, 2013 this sequence version replaced NP_001013374.1. 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. ##RefSeq-Attributes-START## 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="11" /map="11q11" Protein 1..319 /product="olfactory receptor 8U8" /calculated_mol_wt=36184 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P0C7N1.1)" Site 29..49 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7N1.1)" Region 31..308 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 41..290 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 57..77 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7N1.1)" Site 98..118 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7N1.1)" Site 123..143 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7N1.1)" Site 205..225 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7N1.1)" Site 240..260 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7N1.1)" Site 272..292 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7N1.1)" CDS 1..319 /gene="OR8U8" /coded_by="NM_001013356.2:1..960" /db_xref="GeneID:504189" /db_xref="HGNC:HGNC:27538" ORIGIN 1 mahinctqat efilvgltdr qelkmplfvl flsiylftvv gnlglillir adtslntpmy 61 fflsnlafvd fcyssvitpk mlgnflykqn visfdacatq lgcfltfmis eslllasmay 121 dryvaicnpl lymvvmtpgi ciqlvavpys ysflmalfht iltfclsych snivnhfycd 181 dmpllrltcs dtrfkqlwil acagitfics vlivfvsymf iifailrmss aegrrkafst 241 csshmlavti fygtlifmyl qpssshslda dkmasvfytv iipmlnpliy slrnkdvkda 301 lkkviinrnh afiflklrk // LOCUS NP_001093320 479 aa linear PRI 06-AUG-2020 DEFINITION PRAME family member 18 [Homo sapiens]. ACCESSION NP_001093320 NP_001278299 VERSION NP_001093320.2 DBSOURCE REFSEQ: accession NM_001099850.2 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 479) AUTHORS Chang TC, Yang Y, Yasue H, Bharti AK, Retzel EF and Liu WS. TITLE The expansion of the PRAME gene family in Eutheria JOURNAL PLoS ONE 6 (2), e16867 (2011) PUBMED 21347312 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 479) AUTHORS Birtle Z, Goodstadt L and Ponting C. TITLE Duplication and positive selection among hominin-specific PRAME genes JOURNAL BMC Genomics 6, 120 (2005) PUBMED 16159394 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 AC244216.2. On or before Apr 15, 2014 this sequence version replaced NP_001278299.1, NP_001093320.1. 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 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..479 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.21" Protein 1..479 /product="PRAME family member 18" /note="PRAME family member-like" /calculated_mol_wt=55203 CDS 1..479 /gene="PRAMEF18" /coded_by="NM_001099850.2:49..1488" /db_xref="CCDS:CCDS41258.2" /db_xref="GeneID:391003" /db_xref="HGNC:HGNC:30693" ORIGIN 1 msfqaprrll elagqsllrd qalaisvlde lprelfpplf veaftsrrce vlkvmvqawp 61 fpclplgslm ktpdleilhy vvdgidclla qkvrprrwkl qvlemrdvde nfwtiwsgar 121 llscspeams krqtvedcpr tgekqplkvf mdvclkekfm dedlsffsgw vqhrrgsvhl 181 cctkvvnysm silnfrnile tvypdsiqvl eiwnmcwlcm ivefsrylsq mrnlrklfis 241 dgcryllssd sqeqlvaefs svllrlenlq mlyvrrvcff rghldqlirc lrspletlal 301 tygfleeedl kclprypsls qlkqlnlshg alrfirlepl rallekvaat lqtlflvdcg 361 igysklrvil palsrcsnlt tfcfhgndts mdalkdllrh tgrlsnlsle typapresld 421 nrgrvilell tplqaelmri lrevrepkri ffgpvscpcc gtspteqles nfclwgrpa // LOCUS NP_001032457 87 aa linear PRI 06-AUG-2020 DEFINITION putative beta-defensin 109B precursor [Homo sapiens]. ACCESSION NP_001032457 VERSION NP_001032457.1 DBSOURCE REFSEQ: accession NM_001037380.1 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 87) AUTHORS Dua HS, Otri AM, Hopkinson A and Mohammed I. TITLE In vitro studies on the antimicrobial peptide human beta-defensin 9 (HBD9): signalling pathways and pathogen-related response (an American Ophthalmological Society thesis) JOURNAL Trans Am Ophthalmol Soc 112, 50-73 (2014) PUBMED 25646028 REFERENCE 2 (residues 1 to 87) AUTHORS Pierson T, Learmonth-Pierson S, Pinto D and van Hoek ML. TITLE Cigarette smoke extract induces differential expression levels of beta-defensin peptides in human alveolar epithelial cells JOURNAL Tob Induc Dis 11 (1), 10 (2013) PUBMED 23627872 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 87) AUTHORS Otri AM, Mohammed I, Al-Aqaba MA, Fares U, Peng C, Hopkinson A and Dua HS. TITLE Variable expression of human Beta defensins 3 and 9 at the human ocular surface in infectious keratitis JOURNAL Invest. Ophthalmol. Vis. Sci. 53 (2), 757-761 (2012) PUBMED 22232436 REMARK Publication Status: Online-Only REFERENCE 4 (residues 1 to 87) AUTHORS Mohammed I, Suleman H, Otri AM, Kulkarni BB, Chen P, Hopkinson A and Dua HS. TITLE Localization and gene expression of human beta-defensin 9 at the human ocular surface epithelium JOURNAL Invest. Ophthalmol. Vis. Sci. 51 (9), 4677-4682 (2010) PUBMED 20375350 REFERENCE 5 (residues 1 to 87) AUTHORS Alekseeva L, Huet D, Femenia F, Mouyna I, Abdelouahab M, Cagna A, Guerrier D, Tichanne-Seltzer V, Baeza-Squiban A, Chermette R, Latge JP and Berkova N. TITLE Inducible expression of beta defensins by human respiratory epithelial cells exposed to Aspergillus fumigatus organisms JOURNAL BMC Microbiol. 9, 33 (2009) PUBMED 19208266 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 87) AUTHORS Abedin A, Mohammed I, Hopkinson A and Dua HS. TITLE A novel antimicrobial peptide on the ocular surface shows decreased expression in inflammation and infection JOURNAL Invest. Ophthalmol. Vis. Sci. 49 (1), 28-33 (2008) PUBMED 18172071 REFERENCE 7 (residues 1 to 87) AUTHORS Patil AA, Cai Y, Sang Y, Blecha F and Zhang G. TITLE Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract JOURNAL Physiol. Genomics 23 (1), 5-17 (2005) PUBMED 16033865 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AF228730.8. 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 :: DQ012013.1 [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..87 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="8" /map="8p23.1" Protein 1..87 /product="putative beta-defensin 109B precursor" /note="defensin, beta 9 pseudogene; defensin beta 109 pseudogene 1B; putative beta-defensin 109B" /calculated_mol_wt=7373 sig_peptide 1..22 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2531 mat_peptide 23..87 /product="Putative beta-defensin 109B. /id=PRO_0000045333" /note="propagated from UniProtKB/Swiss-Prot (Q30KR1.1)" /calculated_mol_wt=7373 CDS 1..87 /gene="DEFB109B" /gene_synonym="DEF109P1B; DEFB109; DEFB109P1B; HBD9" /coded_by="NM_001037380.1:1..264" /db_xref="GeneID:641517" /db_xref="HGNC:HGNC:33469" ORIGIN 1 mrlhllllil llfsillspv rgglgpaegh clnlfgvcrt dvcnivedqi gacrrrmkcc 61 rawwilmpip tplimsdyqe plkpnlk // LOCUS NP_001352322 181 aa linear PRI 06-AUG-2020 DEFINITION putative uncharacterized protein UNQ9370/PRO34162 [Homo sapiens]. ACCESSION NP_001352322 VERSION NP_001352322.1 DBSOURCE REFSEQ: accession NM_001365393.1 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC112693.5. 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 :: AY358254.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## 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="15" /map="15q26.1" Protein 1..181 /product="putative uncharacterized protein UNQ9370/PRO34162" /calculated_mol_wt=19646 CDS 1..181 /gene="LOC105370980" /coded_by="NM_001365393.1:129..674" /db_xref="GeneID:105370980" ORIGIN 1 mifmqilepq evpsflmicq rrspamhrtc tdhaplaiaq vwlwvslaka gsnrrgpgra 61 egtffsllaa lhaaqhfpnl ptapggasqs nivspeltpk pttalkhaec lldlnshsly 121 rkprpkaavy lnlslplksv hrlslkksfg fgkrdfenns vfivdsggtc agllpgyigw 181 c // LOCUS NP_001338280 265 aa linear PRI 06-AUG-2020 DEFINITION speedy/RINGO cell cycle regulator family member E17 [Homo sapiens]. ACCESSION NP_001338280 XP_006716275 VERSION NP_001338280.1 DBSOURCE REFSEQ: accession NM_001351351.2 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 265) AUTHORS Chauhan S, Zheng X, Tan YY, Tay BH, Lim S, Venkatesh B and Kaldis P. TITLE Evolution of the Cdk-activator Speedy/RINGO in vertebrates JOURNAL Cell. Mol. Life Sci. 69 (22), 3835-3850 (2012) PUBMED 22763696 REFERENCE 2 (residues 1 to 265) AUTHORS Gopinathan L, Ratnacaram CK and Kaldis P. TITLE Established and novel Cdk/cyclin complexes regulating the cell cycle and development JOURNAL Results Probl Cell Differ 53, 365-389 (2011) PUBMED 21630153 REMARK Review article REFERENCE 3 (residues 1 to 265) AUTHORS Nebreda AR. TITLE CDK activation by non-cyclin proteins JOURNAL Curr. Opin. Cell Biol. 18 (2), 192-198 (2006) PUBMED 16488127 REMARK Review article REFERENCE 4 (residues 1 to 265) 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 5 (residues 1 to 265) AUTHORS Cheng A, Xiong W, Ferrell JE Jr and Solomon MJ. TITLE Identification and comparative analysis of multiple mammalian Speedy/Ringo proteins JOURNAL Cell Cycle 4 (1), 155-165 (2005) PUBMED 15611625 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 AC007000.2 and AC114737.3. On May 6, 2017 this sequence version replaced XP_006716275.1. 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..265 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q11.23" Protein 1..265 /product="speedy/RINGO cell cycle regulator family member E17" /calculated_mol_wt=31310 Region 110..261 /region_name="Spy1" /note="Cell cycle regulatory protein; pfam11357" /db_xref="CDD:371488" CDS 1..265 /gene="SPDYE17" /coded_by="NM_001351351.2:576..1373" /db_xref="GeneID:102723849" /db_xref="HGNC:HGNC:51513" ORIGIN 1 mgqilgkimm shqpqpqeer spqrstsgyp lqevvddevs gpsapgvdps pprrslgwkr 61 krecldesdd epekelapep eetwvaetlc glkmkakrrr vslvlpeyye afnrlledpv 121 ikrllawdkd lrvsdkylla mviayfsrag lpswqyqrih fflalyland meeddeapkq 181 nifyflyeet rshipllsel wfqlcrymnp rarkncsqia lfrkyrfhff csmrcrawvs 241 leeleeiqay dpehwvward rahls // LOCUS NP_001369434 265 aa linear PRI 06-AUG-2020 DEFINITION speedy/RINGO cell cycle regulator family member E10, pseudogene [Homo sapiens]. ACCESSION NP_001369434 VERSION NP_001369434.1 DBSOURCE REFSEQ: accession NM_001382505.1 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 265) CONSRTM Sanger Center; Genome Sequencing Center TITLE Toward a complete human genome sequence JOURNAL Genome Res. 8 (11), 1097-1108 (1998) PUBMED 9847074 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC211491.5 and AC211476.5. 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 :: SRR1803616.141608.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..265 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q11.23" Protein 1..265 /product="speedy/RINGO cell cycle regulator family member E10, pseudogene" /note="Williams Beuren syndrome chromosome region 19 pseudogene; speedy/RINGO cell cycle regulator family member E1 pseudogene; speedy homolog E1 pseudogene" /calculated_mol_wt=31310 Region 110..261 /region_name="Spy1" /note="Cell cycle regulatory protein; pfam11357" /db_xref="CDD:371488" CDS 1..265 /gene="SPDYE10P" /coded_by="NM_001382505.1:767..1564" /db_xref="GeneID:643862" /db_xref="HGNC:HGNC:51506" ORIGIN 1 mgqilgkimm shqpqpqeer spqrstsgyp lqevvddevs gpsapgvdps pprrslgwkr 61 krecldesdd epekelapep eetwvaetlc glkmkakrrr vslvlpeyye afnrlledpv 121 ikrllawdkd lrvsdkylla mviayfsrag lpswqyqrih fflalyland meeddeapkq 181 nifyflyeet rshipllsel wfqlcrymnp rarkncsqia lfrkyrfhff csmrcrawvs 241 leeleeiqay dpehwvward rahls // LOCUS NP_001369484 265 aa linear PRI 06-AUG-2020 DEFINITION speedy/RINGO cell cycle regulator family member E12, pseudogene [Homo sapiens]. ACCESSION NP_001369484 VERSION NP_001369484.1 DBSOURCE REFSEQ: accession NM_001382555.1 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 AC211424.4. 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. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..265 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q11.23" Protein 1..265 /product="speedy/RINGO cell cycle regulator family member E12, pseudogene" /note="Williams Beuren syndrome chromosome region 19 pseudogene; speedy homolog E1 pseudogene; speedy/RINGO cell cycle regulator family member E1 pseudogene" /calculated_mol_wt=31351 CDS 1..265 /gene="SPDYE12P" /coded_by="NM_001382555.1:576..1373" /db_xref="GeneID:100101268" /db_xref="HGNC:HGNC:51508" ORIGIN 1 mgqilgkimm shqpqpqeeq spqrstsgyp lqevvddevs gpsapgvdps pprrslgwkr 61 krecldesdd epekelapep eetwvaetlc glkmkakrrr vslvlpeyye afnrlledpv 121 ikrllawdkd lrvsdkylla mviayfsrag lpswqyqrih fflalyland meeddeapkq 181 nifyflyeet rshipllrel wfqlcrymnp rarkncsqia lfrkyrfhff csmrcrawvs 241 leeleeiqay dpehwvward rahls // LOCUS NP_001352305 205 aa linear PRI 06-AUG-2020 DEFINITION WAS/WASL-interacting protein family member 3-like [Homo sapiens]. ACCESSION NP_001352305 XP_016878260 XP_016885740 XP_024308338 VERSION NP_001352305.1 DBSOURCE REFSEQ: accession NM_001365376.1 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 PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AC026150.7. On or before Aug 21, 2018 this sequence version replaced XP_016878260.1, XP_024308338.1, XP_016885740.1. 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..205 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q13.2" Protein 1..205 /product="WAS/WASL-interacting protein family member 3-like" /calculated_mol_wt=22159 CDS 1..205 /gene="LOC100996413" /coded_by="NM_001365376.1:1..618" /db_xref="GeneID:100996413" ORIGIN 1 mrerpsgsae cqrgrtgpka gwqllptars paqhpsests vllnwviral gplvpptegg 61 lwsdqvswpl wedvktpepg epgsplpasp hpplqppafp dppirspdpa vssahsfpap 121 rlawscvlys plslplskpp alylthsplr hqstqaqvpa phlysqtweg ddmktqtpls 181 rrsgvcrgad rrlwklqglp aggrm // LOCUS NP_001013376 305 aa linear PRI 06-AUG-2020 DEFINITION olfactory receptor 9G9 [Homo sapiens]. ACCESSION NP_001013376 XP_003846595 XP_003960915 VERSION NP_001013376.2 DBSOURCE REFSEQ: accession NM_001013358.2 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 305) CONSRTM International Human Genome Sequencing Consortium TITLE Finishing the euchromatic sequence of the human genome JOURNAL Nature 431 (7011), 931-945 (2004) PUBMED 15496913 REFERENCE 2 (residues 1 to 305) AUTHORS Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann Y, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowki J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ and Szustakowki J. CONSRTM International Human Genome Sequencing Consortium TITLE Initial sequencing and analysis of the human genome JOURNAL Nature 409 (6822), 860-921 (2001) PUBMED 11237011 REMARK Erratum:[Nature 2001 Aug 2;412(6846):565] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC213223.1. On or before Aug 31, 2013 this sequence version replaced XP_003960915.1, NP_001013376.1. 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. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..305 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11q11" Protein 1..305 /product="olfactory receptor 9G9" /calculated_mol_wt=33843 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P0C7N8.1)" Site 28..48 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7N8.1)" Region 30..304 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 40..289 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 65..85 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7N8.1)" Site 97..117 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7N8.1)" Site 139..159 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7N8.1)" Site 201..221 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7N8.1)" Site 240..260 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7N8.1)" Site 272..291 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P0C7N8.1)" CDS 1..305 /gene="OR9G9" /gene_synonym="OR9G1" /coded_by="NM_001013358.2:1..918" /db_xref="GeneID:504191" /db_xref="HGNC:HGNC:31940" ORIGIN 1 mqrsnhtvte fillgfttdp gmqlglfvvf lgvysltvvg nstlivlicn dshlhtpmyf 61 vvgnlsfldl wyssvytpki lvicisedks isfagclcqf ffsaglayse ccllaamayd 121 ryvaiskpll yaqamsiklc allvavsycg gfinssiitk ktfsfnfcce niiddffcdl 181 lplvklacge kggykflmyf llasnvicpa vlilasylfi itsvlrisss qgrlkafstc 241 sshltsvtly ygsilyiyal prssysfdmd kivstfytev lpmlnpmiys lrnkdvkeal 301 kkllp // LOCUS NP_056198 2819 aa linear PRI 06-AUG-2020 DEFINITION neuroblastoma breakpoint family member 14 [Homo sapiens]. ACCESSION NP_056198 XP_003960995 VERSION NP_056198.2 DBSOURCE REFSEQ: accession NM_015383.2 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 2819) 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 2 (residues 1 to 2819) AUTHORS Troyer JL, Nelson GW, Lautenberger JA, Chinn L, McIntosh C, Johnson RC, Sezgin E, Kessing B, Malasky M, Hendrickson SL, Li G, Pontius J, Tang M, An P, Winkler CA, Limou S, Le Clerc S, Delaneau O, Zagury JF, Schuitemaker H, van Manen D, Bream JH, Gomperts ED, Buchbinder S, Goedert JJ, Kirk GD and O'Brien SJ. TITLE Genome-wide association study implicates PARD3B-based AIDS restriction JOURNAL J. Infect. Dis. 203 (10), 1491-1502 (2011) PUBMED 21502085 REFERENCE 3 (residues 1 to 2819) 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 AC239811.3. On May 21, 2013 this sequence version replaced NP_056198.1. 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, May 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 :: mixed/partial sample support SAMEA2148093, SAMEA2155371 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..2819 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q21.2" Protein 1..2819 /product="neuroblastoma breakpoint family member 14" /note="AE5" /calculated_mol_wt=323729 Region 189..241 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 453..511 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 540..598 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 611..673 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 686..748 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 762..823 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 855..917 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 930..992 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 1006..1067 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 1099..1161 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 1174..1236 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 1250..1311 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 1343..1405 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 1418..1480 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 1494..1555 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 1587..1649 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 1662..1724 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 1737..1799 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 1831..1893 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 1906..1968 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 1981..2043 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 2075..2137 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 2150..2212 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 2225..2287 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 2319..2381 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 2394..2456 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 2469..2531 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 2563..2625 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 2638..2700 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 2732..2793 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" CDS 1..2819 /gene="NBPF14" /gene_synonym="DJ328E19.C1.1; NBPF" /coded_by="NM_015383.2:1..8460" /db_xref="GeneID:25832" /db_xref="HGNC:HGNC:25232" /db_xref="MIM:614003" ORIGIN 1 mvvsagpwss ekaemnilei netlrpqlae kkqqfrnlke kcfltqlagf lanqqkkyky 61 eeckdlikfm lrnerqfkee klaeqlkqae elrqykvlvh sqereltqlr eklregrdas 121 rslyehlqal ltpyepdksq gqdlqeqlae gcrlaqhlvq klspendede dedvqveeae 181 kvlessapre vqkaeeskvp edsleecait csnshgpcds nqphknikit feedevnstl 241 vvdresshde cqdalnilpv pgptssatnv smvvsagpls sekaemnile ineklrpqla 301 ekkqqfrnlk ekcfltqlsg flanqqkkyk yeeckdlikf mlrnerqfke eklaeqlkqa 361 eelrqykvlv haqereltql reklregrda srslnehlqa lltpdepdks qgqdlqeqla 421 egcrlaqhlv qklspendnd ddedvqveva ekvqkssapr emqkaeekev pedsleecai 481 tysnshgsyd snqphrktki tfeedkvdst ligssshvew edavhiipen esddeeeeek 541 gpvsprnlqe seeeevpqes wdegystlsi ppemlasyqs ysstfhslee qqvcmavdig 601 rhrwdqvkke dqeatgprls relldekgpe vlqdsldrcy stpsgclelt dscqpyrsaf 661 yvleqqrvgl avdmdeieky qeveedqdps cprlsrelld ekepevlqds ldrcystpsg 721 ylelpdlgqp yssavyslee qylglaldvd rikkdeeeee dqdppcprls rellevvepe 781 vlqdsldrcy stpsscleqp dscqpygssf yaleekhvgf sldvgeiekk gkgkkrrgrr 841 skkerrrgrk egeedqnppc prlsrellde kgpevlqdsl drcystpsgc leltdscqpy 901 rsafyvleqq rvglavdmde iekyqeveed qdpscprlsr elldekepev lqdsldrcys 961 tpsgylelpd lgqpyssavy sleeqylgla ldvdrikkde eeeedqdppc prlsrellev 1021 vepevlqdsl drcystpssc leqpdscqpy gssfyaleek hvgfsldvge iekkgkgkkr 1081 rgrrskkerr rgrkegeedq nppcprlsre lldekgpevl qdsldrcyst psgcleltds 1141 cqpyrsafyv leqqrvglav dmdeiekyqe veedqdpscp rlsrelldek epevlqdsld 1201 rcystpsgyl elpdlgqpys savysleeqy lglaldvdri kkdeeeeedq dppcprlsre 1261 llevvepevl qdsldrcyst psscleqpds cqpygssfya leekhvgfsl dvgeiekkgk 1321 gkkrrgrrsk kerrrgrkeg eedqnppcpr lsrellhekg pevlqdsldr cystpsgcle 1381 ltdscqpyrs afyileqqrv glavdmdeie kykeveedqd pscprlsrel ldekepevlq 1441 dsldrcystp sgylelpdlg qpyssavysl eeqylglald vdrfkkdeee eedqdppcpr 1501 lsrellevve pevlqdsldr cystpsscle qpdscqpygs sfyaleekhv gfsldvgeie 1561 kkgkgkkrrg rrskkerrrg rkegeedqnp pcprlsrell dekgpevlqd sldrcystps 1621 gcleltdscq pyrsafyvle qqrvglavdm deiekykeve edqdpscprl srelldekep 1681 evlqdsldrc ystpsgylel pdlgqpyssa vysleeqylg laldvdrikk dqeeeedqgp 1741 pcprlsrell evvepevlqd sldrcystps scleqpdscq pygssfyale ekhvgfsldv 1801 geiekkgkgk krrgrrskke rrrgrkegee dqnppcprls relldekgpe vlqdsldrcy 1861 stpsgclelt dscqpyrsaf yvleqqrvgl avdmdeieky keveedqdps cprlsrelld 1921 ekepevlqds ldrcystpsg ylelpdlgqp yssavyslee qylglaldvd rikkdqeeee 1981 dqgppcprls rellevvepe vlqdsldrcy stpsscleqp dscqpygssf yaleekhvgf 2041 sldvgeiekk gkgkkrrgrr skkerrrgrk egeedqnppc prlsrellde kgpevlqdsl 2101 drcystpsgc leltdscqpy rsafyvleqq rvglavdmde iekykeveed qdpscprlsr 2161 elldekepev lqdsldrcys tpsgylelpd lgqpyssavy sleeqylgla ldvdrikkdq 2221 eeeedqgppc prlsrellev vepevlqdsl drcystpssc leqpdscqpy gssfyaleek 2281 hvgfsldvge iekkgkgkkr rgrrskkerr rgrkegeedq nppcprlsre lldekgpevl 2341 qdsldrcyst psgcleltds cqpyrsafyv leqqrvglav dmdeiekyke veedqdpscp 2401 rlsrelldek epevlqdsld rcystpsgyl elpdlgqpys savysleeqy lglaldvdri 2461 kkdqeeeedq gppcprlsre llevvepevl qdsldrcyst psscleqpds cqpygssfya 2521 leekhvgfsl dvgeiekkgk gkkrrgrrsk kerrrgrkeg eedqnppcpr lsrelldekg 2581 pevlqdsldr cystpsgcle ltdscqpyrs afyvleqqrv glavdmdeie kyqeveedqd 2641 pscprlsrel ldekdpevlq dsldrcystp sgylelpdlg qpyssavysl eeqylglald 2701 vdkiekkgkg kkrrgrrskk errrgrkege edqnppcprl ngvlmeveer evlqdsldrc 2761 ystpsmyfel pdsfqhyrsv fysfeeqhis falyvdnrff tltvtslhlv fqmgvifpq // LOCUS NP_001352302 828 aa linear PRI 06-AUG-2020 DEFINITION golgin subfamily A member 6-like protein 22 [Homo sapiens]. ACCESSION NP_001352302 VERSION NP_001352302.1 DBSOURCE REFSEQ: accession NM_001365373.1 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC138749.6. 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## RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2148093 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## 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="15" /map="15q13.1" Protein 1..828 /product="golgin subfamily A member 6-like protein 22" /calculated_mol_wt=104228 Region <160..764 /region_name="Neuromodulin_N" /note="Gap junction protein N-terminal region; cl26511" /db_xref="CDD:331332" CDS 1..828 /gene="LOC100132202" /coded_by="NM_001365373.1:154..2640" /db_xref="GeneID:100132202" ORIGIN 1 mlmwpqphlp thphlpthph lpthphlpth pmmsketrqs klaeakeqlt dhhpqtnpsv 61 gtaasdtkkk kinngtnpet ttsggchspe deqkashqhq ealrreleaq vhtiriltcq 121 ktelqmalyy sqhavkqleg eardlisrlh dswkfagele qalsavatqk kkadryieel 181 tkerdalsle lyrntitdee lkeknaklqe klqlveseks eiqlnvkelk rkleraklll 241 pqqqlqaead hlgkelqsvs aklqaqveen elwnrlnqqq eekmwrqeek iqereekiqe 301 qeekireqee kmrrqeemmw ekeekmrrqe emmwekeeki releekmheq ekireqeekr 361 qeeekireqe krqeqeakmw rqeekireqe ekireqekkm wrqeekiheq ekireeekrq 421 eqeemwrqee kireqeeiwr qkekmheqee kirkqeekvw rqeekmhdqe ekireqeekv 481 wrqeekireq eekmwrqeek ireqeemwre eekmheqeki weeekrqeqe dkmwrqeeki 541 reqeekvwrq eekireqeek rqeqeekmwk qeekireqee kireqekire qeekireqee 601 mmqeqeekmg eqeekmqeqe kmrrqeekir eqeekireqk ekireqeeki weqeekireq 661 eemmqeqeek mgeqeekmwe qeeemqeqee kmrrqeekir eqekkireqe ekireqeemm 721 qeqeekmgeq egkmceqeak mqeqeekmrr qeekireqek kireqeekir eqeemmqeqe 781 ekmweqeekm ceqeekmqeq eekmrrqeek mreqevrlrq qeekmqeh // LOCUS NP_001305321 105 aa linear PRI 06-AUG-2020 DEFINITION uncharacterized protein LOC105372977 [Homo sapiens]. ACCESSION NP_001305321 VERSION NP_001305321.1 DBSOURCE REFSEQ: accession NM_001318392.1 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 AL021153.1 and HY241190.1. ##Evidence-Data-START## Transcript exon combination :: HY241190.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..105 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="22" /map="22q12.1" Protein 1..105 /product="uncharacterized protein LOC105372977" /calculated_mol_wt=11831 CDS 1..105 /gene="LOC105372977" /coded_by="NM_001318392.1:101..418" /db_xref="GeneID:105372977" ORIGIN 1 mrewkqksfp ketwqnaprn rlhlttleml qlqevcsadq gpagscspnr eiglkqttmr 61 mksaicqdas atiktfvcre tgfkrggter lwkplgsvih sihif // LOCUS NP_001297069 416 aa linear PRI 06-AUG-2020 DEFINITION putative UPF0607 protein ENSP00000383144 [Homo sapiens]. ACCESSION NP_001297069 XP_001717618 XP_003960586 VERSION NP_001297069.1 DBSOURCE REFSEQ: accession NM_001310140.1 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 416) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL450447.9. On or before Jul 1, 2015 this sequence version replaced XP_001717618.5, XP_003960586.3. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology 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="13" /map="13q22.3" Protein 1..416 /product="putative UPF0607 protein ENSP00000383144" /note="UPF0607 protein ENSP00000383144-like" /calculated_mol_wt=45982 Region 150..357 /region_name="POM121" /note="POM121 family; pfam15229" /db_xref="CDD:291882" CDS 1..416 /gene="LOC100129307" /coded_by="NM_001310140.1:178..1428" /db_xref="GeneID:100129307" ORIGIN 1 mgnslsvfcs wshcrfwpch qqparlvrea fpagraapta parvpapgiw grfpllfnrq 61 rhlgpsfpvr wdsdpmrlcl iprntgtpqr vlppvvwstp srkkpvlsar nsmmfghlsp 121 mriphlrgkf nlqlpsldeq viparlpkte vraeepkeat evkdqvetqe qednkrgpcs 181 ngeaastsrp letqgnltss wynprplegn vhlksltekn qtdkaqvhav sfyskghgva 241 sshspaggil pfgrpdslpt vlpapvpgcs lwpekaalkv lgkdylpssp gllmvgedmq 301 pkdpaalgss rssppkaagh rshkrklsgp plqlqptppl qlrwdrdegp ppaklpclsp 361 eallvgqasq reghlqqgnm hknmrvlsrt skfrrlrqll rrrkkrrqgr cggsrl // LOCUS NP_001337209 178 aa linear PRI 06-AUG-2020 DEFINITION uncharacterized protein C18orf12 [Homo sapiens]. ACCESSION NP_001337209 XP_016855255 XP_016881598 VERSION NP_001337209.1 DBSOURCE REFSEQ: accession NM_001350280.1 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 178) AUTHORS Hao Y, Liu X, Lu X, Yang X, Wang L, Chen S, Li H, Li J, Cao J, Chen J, Li Y, Zhao L, Shi Y, Shen C, Yan W, He J, Huang J and Gu D. TITLE Genome-wide association study in Han Chinese identifies three novel loci for human height JOURNAL Hum. Genet. 132 (6), 681-689 (2013) PUBMED 23456168 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB027121.1 and AC091150.15. On or before Apr 12, 2017 this sequence version replaced XP_016881598.1, XP_016855255.1. ##Evidence-Data-START## Transcript is intronless :: AB027121.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..178 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="18" /map="18q21.1" Protein 1..178 /product="uncharacterized protein C18orf12" /calculated_mol_wt=19579 CDS 1..178 /gene="C18orf12" /gene_synonym="HEIL1; HsT2508" /coded_by="NM_001350280.1:1..537" /db_xref="GeneID:84322" /db_xref="HGNC:HGNC:24918" ORIGIN 1 merivhcegi vswdnlyrey ntmastfgpk dilvlplatd sffvigkvts slwasvssfl 61 nnkkiphgaw llspclhflq allvcaqvyl plpvrsllci ctcppfvcsl sdmglplfpp 121 taslnpamch ngvelsfwmm wrdltlmpfp shqanlasss thgisqnaes greiehqg // LOCUS NP_001352113 140 aa linear PRI 06-AUG-2020 DEFINITION growth/differentiation factor 3 [Homo sapiens]. ACCESSION NP_001352113 VERSION NP_001352113.1 DBSOURCE REFSEQ: accession NM_001365184.1 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 AC008940.3. 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## RNAseq introns :: mixed/partial sample support SAMEA2145240, SAMEA2159931 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on computational evidence ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..140 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q11.2" Protein 1..140 /product="growth/differentiation factor 3" /calculated_mol_wt=15765 Region 43..139 /region_name="TGF_beta" /note="Transforming growth factor beta like domain; pfam00019" /db_xref="CDD:306518" CDS 1..140 /gene="LOC105378979" /coded_by="NM_001365184.1:76..498" /db_xref="GeneID:105378979" ORIGIN 1 mvlpsyskkp lisnveqlil gipgqnrrei ghgqdifpae klchlqdrkv nlhraawgec 61 ivapktlsfs ycqgtcpaln selrhssfec ykravptcpw lfqtcrptmv rlfslmvqdd 121 ehkmsvhyvn tslvekcgcs // LOCUS NP_001138403 123 aa linear PRI 06-AUG-2020 DEFINITION D-dopachrome decarboxylase related protein isoform 1 [Homo sapiens]. ACCESSION NP_001138403 XP_372900 VERSION NP_001138403.1 DBSOURCE REFSEQ: accession NM_001144931.2 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 123) 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 123) AUTHORS Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J and Stanton LW. TITLE Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation JOURNAL Nat. Biotechnol. 22 (6), 707-716 (2004) PUBMED 15146197 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CN315393.1 and DA816529.1. On Jan 29, 2009 this sequence version replaced XP_372900.4. ##Evidence-Data-START## Transcript exon combination :: DA816529.1, SRR1163657.72738.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..123 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="22" /map="22q11.23" Protein 1..123 /product="D-dopachrome decarboxylase related protein isoform 1" /calculated_mol_wt=12941 Region 2..96 /region_name="4Oxalocrotonate_Tautomerase" /note="4-Oxalocrotonate Tautomerase: Catalyzes the isomerization of unsaturated ketones. The structure is a homohexamer that is arranged as a trimer of dimers. The hexamer contains six active sites, each formed by residues from three monomers, two from one...; cl00235" /db_xref="CDD:294165" CDS 1..123 /gene="LOC391322" /coded_by="NM_001144931.2:38..409" /note="isoform 1 is encoded by transcript variant 1" /db_xref="GeneID:391322" ORIGIN 1 mpflelhtnf panrvpagle krlcavaasi lgkpadlvnv tvrpglaral sgstepcaql 61 sissigvvgt aednrshsah ffefltkela lgqdrcagvv gpeyysktqs eysipanslk 121 pnt // LOCUS NP_001335132 79 aa linear PRI 06-AUG-2020 DEFINITION protein FAM236D isoform 1 [Homo sapiens]. ACCESSION NP_001335132 VERSION NP_001335132.1 DBSOURCE REFSEQ: accession NM_001348203.1 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC240504.3. 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## RNAseq introns :: single sample supports all introns SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..79 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq13.1" Protein 1..79 /product="protein FAM236D isoform 1" /note="family with sequence similarity 235 member D; protein FAM236D; Protein FAM236C" /calculated_mol_wt=8551 CDS 1..79 /gene="FAM236D" /gene_synonym="FAM236C" /coded_by="NM_001348203.1:101..340" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS87762.1" /db_xref="GeneID:105373251" /db_xref="HGNC:HGNC:52642" ORIGIN 1 miftpflppa dlsvfqnvkg pqkdpeelva vsdtaedpss gtglprepal lrgswrsrfq 61 ralacfikcf rggyralgi // LOCUS NP_001280555 2515 aa linear PRI 06-AUG-2020 DEFINITION putative maltase-glucoamylase-like protein FLJ16351 [Homo sapiens]. ACCESSION NP_001280555 VERSION NP_001280555.1 DBSOURCE REFSEQ: accession NM_001293626.2 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 2515) AUTHORS Kim MS, Pinto SM, Getnet D, Nirujogi RS, Manda SS, Chaerkady R, Madugundu AK, Kelkar DS, Isserlin R, Jain S, Thomas JK, Muthusamy B, Leal-Rojas P, Kumar P, Sahasrabuddhe NA, Balakrishnan L, Advani J, George B, Renuse S, Selvan LD, Patil AH, Nanjappa V, Radhakrishnan A, Prasad S, Subbannayya T, Raju R, Kumar M, Sreenivasamurthy SK, Marimuthu A, Sathe GJ, Chavan S, Datta KK, Subbannayya Y, Sahu A, Yelamanchi SD, Jayaram S, Rajagopalan P, Sharma J, Murthy KR, Syed N, Goel R, Khan AA, Ahmad S, Dey G, Mudgal K, Chatterjee A, Huang TC, Zhong J, Wu X, Shaw PG, Freed D, Zahari MS, Mukherjee KK, Shankar S, Mahadevan A, Lam H, Mitchell CJ, Shankar SK, Satishchandra P, Schroeder JT, Sirdeshmukh R, Maitra A, Leach SD, Drake CG, Halushka MK, Prasad TS, Hruban RH, Kerr CL, Bader GD, Iacobuzio-Donahue CA, Gowda H and Pandey A. TITLE A draft map of the human proteome JOURNAL Nature 509 (7502), 575-581 (2014) PUBMED 24870542 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC091742.5. 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## RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..2515 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q34" Protein 1..2515 /product="putative maltase-glucoamylase-like protein FLJ16351" /EC_number="3.2.1.-" /note="maltase-glucoamylase (alpha-glucosidase)" /calculated_mol_wt=277861 Region 43..87 /region_name="Trefoil" /note="Trefoil (P-type) domain; pfam00088" /db_xref="CDD:278515" Site order(58,82..83) /site_type="other" /note="putative ligand binding site [chemical binding]" /db_xref="CDD:238059" Site order(74,82) /site_type="other" /note="putative binding specificity loop" /db_xref="CDD:238059" Region 104..214 /region_name="NtCtMGAM_N" /note="N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase; pfam16863" /db_xref="CDD:293468" Region 207..323 /region_name="GH31_N" /note="N-terminal domain of glycosyl hydrolase family 31 (GH31); cd14752" /db_xref="CDD:270212" Site 244 /site_type="active" /db_xref="CDD:270212" Region 304..769 /region_name="Glyco_hydro_31" /note="Glycosyl hydrolases family 31; pfam01055" /db_xref="CDD:279404" Region 323..680 /region_name="GH31_MGAM_SI_GAA" /note="maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase; cd06602" /db_xref="CDD:269888" Site order(340,368..369,405,441,476,478..479,561,574,577,610, 635) /site_type="active" /db_xref="CDD:269888" Site order(478,577) /site_type="active" /note="catalytic site [active]" /db_xref="CDD:269888" Region 907..948 /region_name="Trefoil" /note="Trefoil (P-type) domain; pfam00088" /db_xref="CDD:278515" Site order(919,944..945) /site_type="other" /note="putative ligand binding site [chemical binding]" /db_xref="CDD:238059" Site order(937,944) /site_type="other" /note="putative binding specificity loop" /db_xref="CDD:238059" Region 991..1083 /region_name="NtCtMGAM_N" /note="N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase; pfam16863" /db_xref="CDD:293468" Region 1076..1190 /region_name="GH31_N" /note="N-terminal domain of glycosyl hydrolase family 31 (GH31); cd14752" /db_xref="CDD:270212" Site 1113 /site_type="active" /db_xref="CDD:270212" Region 1171..1671 /region_name="Glyco_hydro_31" /note="Glycosyl hydrolases family 31; pfam01055" /db_xref="CDD:279404" Region 1190..1581 /region_name="GH31_MGAM_SI_GAA" /note="maltase-glucoamylase, sucrase-isomaltase, lysosomal acid alpha-glucosidase; cd06602" /db_xref="CDD:269888" Site order(1207,1235..1236,1271,1310,1373,1375..1376,1464,1477, 1480,1513,1538) /site_type="active" /db_xref="CDD:269888" Site order(1375,1480) /site_type="active" /note="catalytic site [active]" /db_xref="CDD:269888" Region 1819..>1965 /region_name="PHA03255" /note="BDLF3; Provisional" /db_xref="CDD:165513" CDS 1..2515 /gene="MGAM2" /coded_by="NM_001293626.2:91..7638" /db_xref="CCDS:CCDS78281.1" /db_xref="GeneID:93432" /db_xref="HGNC:HGNC:28101" ORIGIN 1 marklsvlev lliifclivv tidilllllv leetsdtsft pecpeipqse ridctpdqev 61 tedicrwqyk ccwspvadan vprcffpwnw gyeasnghtn tstgftaqlk rlpspslfgn 121 dvattlftae yqtsnrfhfk itdfnnirye vsheninlvd giadasnlsy yvevtdkpfs 181 ikimrtsnrr vlldtsigpl qfaqqylqls frlpsanvyg lgehvhqqyr hnmtwktwpi 241 ftrdatpteg minlygahtf flcledargs sfgvflmnsn amevtlqpap aityrtiggi 301 ldfyvflgnt peqvvqeyle lvgrpffppy wslgfqlsrr dygginklke vvsrnrlaei 361 pydvqysdid ymdgkkdftv devaysglpd fvkelhdngq kyliimnpgi sknsnyepyn 421 ngslkrvwil gsngfavgeg ypgptvfpdy tnpvctewwt dqvakfhdhl efdgvwiemn 481 evssllqasn nqcesnnlnf ppflprvldh llfartlcmd tefhgglhyd ihslyghsma 541 rttnlaleti fmnnrsfils rstfagsgkf aahwlgdnaa twddlrwsip tilefnlfgi 601 pmvganicgy nnnvteelcr rwmqlgafyp lprnhngpgf rdqdpaafgv dslllkssrh 661 ylnirytllp ylytlfyhah trgetvarpl vhefyqdsat wdvheqflwg pgllitpvly 721 egvdevkayi pdatwydyet gvaiswrkql vnmllpgdki glhlrggyif ptqkpnttte 781 asrrnslgli ialdykreak gelywddgvs kdavtekkyi lydfsvtsnh lqakiinnny 841 mdtdnlmftd itilgmdkqp anfivllnnv atsspsvvyn astkvvtitd lqglvlgqef 901 sirwnlpvsd lekfncypdd ptaseescrq rgclwedtst pgvptcyydt ipnyvasdiq 961 ylntsitadl slpmapesaa aaasdslsak isflhlkviy htatmlqvki ydptnkryev 1021 pvplntppqp vgdpenrlyd vriqnnpfgi qiqrknsstv iwdsqlpgfi fndmflsist 1081 rlpsqyiygf getehttfrr nmnwntwgmf ahdeppaykk nsygvhpyym aleedgsahg 1141 vlllnsnamd vtlqptpalt yrttggildf yivlgptpel vtqqytelig rpamipywal 1201 gfhlsrygyq ndaeisslyd amvaaqipyd vqhvdidymn rkldftlsan fqnlsllieq 1261 mkkngmrfil ildpaisgne tqylpfirgq ennvfikwpd tndivwgkvw pdlpnvivdg 1321 sldhetqvkl yrayvafpdf frnstaawwk keieelyanp repekslkfd glwidmneps 1381 nfvdgsvrgc snemlnnppy mpylesrdkg lssktlcmes qqilpdsspv ehynvhnlyg 1441 wsqtrptyea vqevtgqrgv iitrstfpss grwgghrlgn ntaawdqlgk siigmmefsl 1501 fgipytgadi cgffgdaeye mcvrwmqlga fypfsrnhnn igtrrqdpva wnstfemlsr 1561 kvletrytll pylytlmhka hvegstvvrp llheftddrt twdidrqfml gpailispvl 1621 etstfeisay fprarwydys tgtsststgq rkilkapldh inlhvrggyi lpwqepamnt 1681 hssrqnfmgl ivalddngta egqvfwddgq sidtyengny flanfiaaqn ilqiqtihnk 1741 ylsdsnplkv gyiriwgvnt yvtqvsftyd nrqfmetnfk sepynqilti qltdktinle 1801 kltevtwidg gpvlptptkt stipmsshps psttnatsse titssasant ttgttdtvpi 1861 tttsfpstts vttnttvpdt tspfptsttn astnatvpit ttpfptstig vttnatvpnt 1921 tapfptnast astnatvpit ttcfatstig vttnatvpdt tapfptnttt astnatipit 1981 ttpfatstis vttsttvpdt tapfptstts astnatpvpi tttlfatsti gvttgttvpd 2041 ttapfptstt ststsatvpi tttpsptnta dantsntvpn ttmpsptsst tvstiatvpi 2101 svtpsltsta datisttvli attssltgtt dvststtinn istpvqtntt naststnvan 2161 itatshtstd dtvpnntvpv taipslantg vdttsnsfsi mttsfsestn amnttvimat 2221 tsptstdvas tnndasmtnf llatmsagni tsnsisittt sfgnsvpfvt tpspstdatt 2281 tsnntnpgmt tyyqtsptip thtltsipss itsilsmfpt sntfttdkit nfttptnant 2341 iifntldtks tmvidatvtt tstkdntmsp dttvtsidkf tthitqfatp hsattttlal 2401 shtslaptnl snlgtmditd adnsssvtgn tthisvsnlt tasvtitatg ldsqtphmvi 2461 nsvatylpit atsattdttn itkyalnttt pdstvhtsat aptyianain atqvp // LOCUS NP_981968 271 aa linear PRI 06-AUG-2020 DEFINITION uncharacterized protein LOC389199 [Homo sapiens]. ACCESSION NP_981968 XP_371688 VERSION NP_981968.1 DBSOURCE REFSEQ: accession NM_203423.2 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 271) 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 AC097381.3. On Mar 22, 2004 this sequence version replaced XP_371688.1. 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 :: BC031673.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..271 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4p16.1" Protein 1..271 /product="uncharacterized protein LOC389199" /calculated_mol_wt=27446 Region <67..>232 /region_name="PRK07003" /note="DNA polymerase III subunits gamma and tau; Validated" /db_xref="CDD:235906" CDS 1..271 /gene="LOC389199" /coded_by="NM_203423.2:166..981" /db_xref="GeneID:389199" ORIGIN 1 mrgqerapiq shgpprprvr avpsvsrtkq srygggrrsl pllvtrtpph ewvfagpplt 61 htgtshaaga pgrsqrpgpr splradagsw gavgtgphpq ddrdpragpr gvaagaeppv 121 ppeaetkprr tdpgpcgapl gastpgaetp agsgdpaasr avspqaatsq rsllaaapgp 181 tgaqlnsrqs rsrlnngapg rgrrrrlspc tpleirlgsr scsrrgaaag tdttqahtap 241 paarrpapsg agrpgpaprp mgselrgvgg a // LOCUS NP_001338277 275 aa linear PRI 06-AUG-2020 DEFINITION speedy/RINGO cell cycle regulator family member E18 [Homo sapiens]. ACCESSION NP_001338277 VERSION NP_001338277.1 DBSOURCE REFSEQ: accession NM_001351348.1 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 275) AUTHORS Rose JE, Behm FM, Drgon T, Johnson C and Uhl GR. TITLE Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score JOURNAL Mol. Med. 16 (7-8), 247-253 (2010) PUBMED 20379614 REMARK GeneRIF: Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) Erratum:[Mol Med. 2012;18(1):729] REFERENCE 2 (residues 1 to 275) 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 AC007000.2. 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## RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology 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="7" /map="7q11.23" Protein 1..275 /product="speedy/RINGO cell cycle regulator family member E18" /calculated_mol_wt=32505 Region 117..271 /region_name="Spy1" /note="Cell cycle regulatory protein; pfam11357" /db_xref="CDD:314328" CDS 1..275 /gene="SPDYE18" /coded_by="NM_001351348.1:370..1197" /db_xref="GeneID:100505767" /db_xref="HGNC:HGNC:51514" ORIGIN 1 mdrtktrfrk rgqitgkitt srqphpqneq slqrstsgyp lqevvddevl gpsapgvdps 61 ppcrslgwkr kkewsdesee epekelapep eetwvvemlc glkmklkqqr vspilpehhk 121 dfnsqledpv ikrflawdkd lrvsdkylla mviayfsrag lpswqyqrih fflalyland 181 meeddedpkq nifyflygkt rsriplvrnr rfqlcrclnp rarknrsqia lfqklrfqff 241 csmsgrawvs reeleeiqay dpehwvward rarls // LOCUS NP_001357297 109 aa linear PRI 06-AUG-2020 DEFINITION keratin-associated protein 21-1 [Homo sapiens]. ACCESSION NP_001357297 XP_011533641 VERSION NP_001357297.1 DBSOURCE REFSEQ: accession NM_001370368.2 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 109) 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 AL445238.12. On May 7, 2019 this sequence version replaced XP_011533641.1. 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..109 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="13" /map="13q21.31" Protein 1..109 /product="keratin-associated protein 21-1" /calculated_mol_wt=10681 CDS 1..109 /gene="LOC647264" /coded_by="NM_001370368.2:61..390" /db_xref="GeneID:647264" ORIGIN 1 mccnyygnsc gygssygcgy gsgygcgygs sygcgygsgy gcgygssygc gygsgyscgy 61 gsgsgcgygt gygcgygcgy gtgygcgcgs gsgycgyrpf cfrrcyssc // LOCUS NP_001335090 169 aa linear PRI 06-AUG-2020 DEFINITION uncharacterized protein LOC100996259 [Homo sapiens]. ACCESSION NP_001335090 VERSION NP_001335090.1 DBSOURCE REFSEQ: accession NM_001348161.1 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 169) 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 169) AUTHORS Bi W, Park SS, Shaw CJ, Withers MA, Patel PI and Lupski JR. TITLE Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2 JOURNAL Am. J. Hum. Genet. 73 (6), 1302-1315 (2003) PUBMED 14639526 REFERENCE 3 (residues 1 to 169) AUTHORS Park SS, Stankiewicz P, Bi W, Shaw C, Lehoczky J, Dewar K, Birren B and Lupski JR. TITLE Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs JOURNAL Genome Res. 12 (5), 729-738 (2002) PUBMED 11997339 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC015818.32. Sequence Note: The RefSeq transcript and protein were derived from 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..169 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17p11.2" Protein 1..169 /product="uncharacterized protein LOC100996259" /calculated_mol_wt=18555 CDS 1..169 /gene="FAM106B" /coded_by="NM_001348161.1:431..940" /db_xref="GeneID:100996259" /db_xref="HGNC:HGNC:32450" ORIGIN 1 mlpstmflvh lplstnrlhc lrntslepcl csfvhlnhpl hisdpvilis lheavrfsfa 61 fsfprgtlsi ayclmssvst sseaimstel lanychsslh vcicissfpn etgnhdsfpg 121 avvsisdqpt dqcklaakel plrnllecrf fdcmgeedli nlgvigter // LOCUS NP_001258604 805 aa linear PRI 06-AUG-2020 DEFINITION zinc finger CCCH-type domain-containing-like [Homo sapiens]. ACCESSION NP_001258604 VERSION NP_001258604.1 DBSOURCE REFSEQ: accession NM_001271675.1 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 805) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DB093153.1, AK302514.1, AL365217.10 and CD244244.1. 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 :: AK302514.1, DB093153.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..805 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6q12" Protein 1..805 /product="zinc finger CCCH-type domain-containing-like" /note="zinc finger CCCH-type containing 11A-like" /calculated_mol_wt=88805 Region 2..110 /region_name="zf-CCCH_3" /note="Zinc-finger containing family; pfam15663" /db_xref="CDD:292291" Region 6..28 /region_name="ZnF_C3H1" /note="zinc finger; smart00356" /db_xref="CDD:214632" CDS 1..805 /gene="LOC441155" /coded_by="NM_001271675.1:735..3152" /db_xref="GeneID:441155" ORIGIN 1 mpnqgedcyf ffystctkgd scpfrhceaa lgnetvctlw qegrcfrrvc rfrhmeidkk 61 rseipcywen qptgcqklnc afhhnrgryv dglflppsks vlptvpespe eevkasqlsv 121 qqnklsvqsn pspqlrsvmk vessenvpsp khppvvinaa dddeddddqf seegdetktp 181 tlqptpevhn glrvtsvrkp avnikqgecl hfgiktleei kskkmkekse eqgegssgvs 241 slllhpepvp gpekenvrtv vrtvtlstkq geeplvrlgl tetlgkrkfs tggdsdpplk 301 rslaqrlgkk veapetntde tpkkaqvsks lkerlgmsad pnnedatdkv nkvgeihvkt 361 leemlleras qkhgesqtkl ktegpsktdd stsgarssst iriktfsevl aeeehrqqea 421 erqkskkdtt ciklktdsei kktvvlppiv askgqseepa gktksmqevh mktveeikle 481 kalrvqqsse sstsspsqhe atpgarlllr itkrtwrkee kklqegnevd flsrvrmeat 541 easvettgvd itkiqvkrce imretrmqkq qereksvltp lqgdvascnt qvaekpvlta 601 vpgitwhltk qlptkssqkv evetsgiads llnvkwsaqt lekrgeakpt vnvkqsvvkv 661 vsspklapkr kavemhpavt aavkplssss vlqeppakka avdavvllvs edksvtvpet 721 enprdslvlp ltqsssdssp pevsgpsssq msmktrrlss astgkpplsv eddfekltwe 781 isggkleaei dldpgkdedd lplel // LOCUS NP_001372851 432 aa linear PRI 06-AUG-2020 DEFINITION nuclear pore complex-interacting protein family member B8 [Homo sapiens]. ACCESSION NP_001372851 XP_024306183 VERSION NP_001372851.1 DBSOURCE REFSEQ: accession NM_001385922.1 KEYWORDS RefSeq. SOURCE Homo 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 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 AC020765.8 and AC145285.2. On Jul 30, 2020 this sequence version replaced XP_024306183.1. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..432 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p11.2" Protein 1..432 /product="nuclear pore complex-interacting protein family member B8" /calculated_mol_wt=49486 CDS 1..432 /gene="NPIPB8" /coded_by="NM_001385922.1:220..1518" /db_xref="GeneID:728734" /db_xref="HGNC:HGNC:37490" ORIGIN 1 mvklsivltp qflshdqgql tkelqqhvks vtcpceylrk vinslavyrh retdfgvgvr 61 dhpgqhgktp spqkldnlii iiigflrcyt fnilfctscl cvsflktifw srnghdgsmd 121 vqqrawrsnr srqkglrsic mhtkkrvssf rgnkiglkdv itlrrhvetk vrakirkrkv 181 ttkinrhdki ngkrktarkq kmfqraqelr rraedyhkck ippsarkplc nwvrmaaaeh 241 rhssglpywl yltaetlknr mgrqpppptq qhsitdnsls lktppecllt plppsvddni 301 kecplaplpp splppsvddn lkeclfvplp psplppsvdd nlkeclfvpl ppsplppsvd 361 dnlktpplat qeaevekppk pkrwrvdeve qspkpkrqre aeaqqlpkpk rrrlsklrtr 421 hctqawairi np // LOCUS NP_001297071 416 aa linear PRI 06-AUG-2020 DEFINITION putative UPF0607 protein ENSP00000383783 [Homo sapiens]. ACCESSION NP_001297071 XP_001718307 XP_003960321 VERSION NP_001297071.1 DBSOURCE REFSEQ: accession NM_001310142.1 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 416) 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 AL591893.9. On or before Jul 1, 2015 this sequence version replaced XP_001718307.5, XP_003960321.3. ##RefSeq-Attributes-START## 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="1" /map="1q21.3" Protein 1..416 /product="putative UPF0607 protein ENSP00000383783" /note="UPF0607 protein ENSP00000383783-like" /calculated_mol_wt=45896 Region 149..>305 /region_name="POM121" /note="POM121 family; pfam15229" /db_xref="CDD:291882" CDS 1..416 /gene="LOC100131107" /coded_by="NM_001310142.1:118..1368" /db_xref="GeneID:100131107" ORIGIN 1 mgnslsvfcs wfrrrswpch rqpaclvrea fpagrahpaa papvpargiv grfpllfnrq 61 rhlgpsfpvr wdgapmrlcl ipqntgtpqr vlppvvwspp srkkpmlsac nsmmfghlsp 121 vriphlrgkf nlqlpsldeq viparlpkme vraeepkeat evkdqvetqg qednkrgpcs 181 ngeaastssl letqgnltss wynprplegn vhlksliekn qtdkaqvhav sfyskdheva 241 sshspaggil sfgkpdplpt vlpapvpgcs lwpekaalkv lgkdhlpssp gllmvgedmq 301 pkdpaalgss rsspsraash sshkrklsep plqlqptppl qlkwdrdegp ppakfpclsp 361 eallvsqasq regrlqqgnm cknmrvlsrt skfrrlrell rrrkkrrqgr cgsshl // LOCUS NP_001308653 766 aa linear PRI 06-AUG-2020 DEFINITION uncharacterized protein LOC645177 [Homo sapiens]. ACCESSION NP_001308653 VERSION NP_001308653.2 DBSOURCE REFSEQ: accession NM_001321724.3 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 766) 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 AC023510.16. On Dec 9, 2016 this sequence version replaced NP_001308653.1. 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/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..766 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12p12.1" Protein 1..766 /product="uncharacterized protein LOC645177" /calculated_mol_wt=87527 CDS 1..766 /gene="LOC645177" /coded_by="NM_001321724.3:79..2379" /db_xref="GeneID:645177" ORIGIN 1 masprkvtek rhnpvesicr kiraihkrea isnpiqqiik yqsssfdspq tntkkyfeev 61 lrkmtaacvp tpgshwssse evdafisspq iisprtpsts hlsspetaty sviltssenv 121 skpksqsnkn ytslmsqirk aeffsnkdln nycsennfst ltldfdstfv qslkcfdpqd 181 svvkklslne dgwkqeaddg kedviysinr ackeealtsi fnacdikrkg svgvakiinf 241 lrqttsqnse dsgleqlwnm ldpekrdphv dletfqammk dwmaycgntw egvnhrlssi 301 iddsvceqdg iksdgtmkms tditdstlgs fealggetsk gvlevsdlia yvadlhfnkr 361 kleeennkfk laletleetn sqlsedctel rlqvksahqa imrtnllkee leelklsmna 421 seeqksmiva qskqletenr alilkirilq eenfknimdi drlekkiedl sktetehqmq 481 lhtyentlln kdtslqkkgl yieelkstii eygsiienlr geksklahel qhlqqalitn 541 giqlnvngec nsiisegeks lhyeltlaqs aenteterqh nvinlsslda mmdqemllll 601 repaqkavef tatlqklhee iskiatlien srrwvtnpei tvkekweeql tefnnimeek 661 ldlcilmlni lgnhkesldk efaklieilk rfrqeyfyfr keflasqkql eaikqlqeda 721 vnqegilrkr lqetsqrled veeqvgwlma tldsgdissd alqtmk // LOCUS NP_001352126 132 aa linear PRI 06-AUG-2020 DEFINITION small integral membrane protein 33 [Homo sapiens]. ACCESSION NP_001352126 XP_024302047 VERSION NP_001352126.1 DBSOURCE REFSEQ: accession NM_001365197.1 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 AC138517.2. On Aug 7, 2018 this sequence version replaced XP_024302047.1. 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 SAMEA1968540, SAMEA2142348 [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..132 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q31.2" Protein 1..132 /product="small integral membrane protein 33" /calculated_mol_wt=13992 Site 15 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A0A1B0GW64.1)" Site 43..63 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A0A1B0GW64.1)" CDS 1..132 /gene="SMIM33" /coded_by="NM_001365197.1:119..517" /db_xref="GeneID:111064649" /db_xref="HGNC:HGNC:53645" ORIGIN 1 mhqaghyswp spavnssseq epqrqlpevl sgtweqprvd glpvvtviva vfvllavcii 61 vavhfgprlh qghatlptep ptpkpdggiy lihwrvlgpq dspeeappgp lvpgscpapd 121 gprpsidevt cl // LOCUS NP_689840 447 aa linear PRI 06-AUG-2020 DEFINITION dual specificity protein phosphatase CDC14C [Homo sapiens]. ACCESSION NP_689840 XP_001125780 XP_001126948 XP_001131355 XP_498195 VERSION NP_689840.2 DBSOURCE REFSEQ: accession NM_152627.3 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 447) 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 2 (residues 1 to 447) AUTHORS Mocciaro A and Schiebel E. TITLE Cdc14: a highly conserved family of phosphatases with non-conserved functions? JOURNAL J. Cell. Sci. 123 (Pt 17), 2867-2876 (2010) PUBMED 20720150 REMARK Review article REFERENCE 3 (residues 1 to 447) AUTHORS Rosso L, Marques AC, Weier M, Lambert N, Lambot MA, Vanderhaeghen P and Kaessmann H. TITLE Birth and rapid subcellular adaptation of a hominoid-specific CDC14 protein JOURNAL PLoS Biol. 6 (6), e140 (2008) PUBMED 18547142 REFERENCE 4 (residues 1 to 447) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC006024.1, BC068452.1 and BC028690.2. On Nov 15, 2017 this sequence version replaced NP_689840.1. Summary: This gene represents a retrogene of cell division cycle 14B (CDC14B), which is located on chromosome 9. The introns in the coding sequence have been processed out relative to the CDC14B locus, but there is an intact open reading frame that is missing only some sequence at the N-terminus, including the nuclear localiztion signal, relative to proteins encoded by the CDC14B gene. There is a difference in the subcellular localization of the protein encoded by this gene, relative to its parental gene product. While the parental gene product displays microtubular localization, GFP chimeras of the protein encoded by this gene localize to the endoplasmic reticulum, indicating a possible new functional role for this gene. [provided by RefSeq, Nov 2017]. ##Evidence-Data-START## Transcript is intronless :: BC028690.2, SRR5189667.195273.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..447 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7p12.3" Protein 1..447 /product="dual specificity protein phosphatase CDC14C" /note="CDC14 cell division cycle 14 homolog C" /calculated_mol_wt=51483 Region 22..159 /region_name="DSPn" /note="Dual specificity protein phosphatase, N-terminal half; pfam14671" /db_xref="CDD:317115" Region 216..330 /region_name="PTPc" /note="Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr...; cl21483" /db_xref="CDD:328744" Site order(257,283..284,287,290..291) /site_type="active" /db_xref="CDD:238073" Site order(257,284) /site_type="active" /note="catalytic residues [active]" /db_xref="CDD:238073" CDS 1..447 /gene="CDC14C" /gene_synonym="CDC14B2; CDC14Bretro" /coded_by="NM_152627.3:127..1470" /db_xref="GeneID:168448" /db_xref="HGNC:HGNC:22427" ORIGIN 1 mrsstlqdpr rrdpqddvyv ditdrlrfai lysrpksasn vhyfsidnel eyenfsedfg 61 plnlamvyry cckinkklks itmlrkkivh ftgsdqrkqa naaflvgcym viylgrtpea 121 ayrilifgdt pyipfrdaay gscnfyitll dcfhavkkam qygflnfnsf nldeyehyek 181 aengdlnwii pdrfiafcgp hsrarlesgy hqhspetyiq yfknhnvtti irlnkrmyda 241 krftdagfdh hdlffadgst ptdaivkrfl dicenaegai avhckaglgr tgtliacyim 301 khyrmtaaet iawvricrpg lvigpqqqfl vmkqtslwle gdyfrqrlkg qengqhraaf 361 skllsgvddi singvenqdq qepkpysddd eingvtqgdr sralkrrrqs ktndillpsp 421 lavltftlcs vviwwivcdy ilpillf // LOCUS NP_001137439 1288 aa linear PRI 06-AUG-2020 DEFINITION EF-hand calcium-binding domain-containing protein 8 [Homo sapiens]. ACCESSION NP_001137439 XP_001720372 XP_371397 XP_941619 VERSION NP_001137439.1 DBSOURCE REFSEQ: accession NM_001143967.1 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 1288) 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 AL035071.17, AL390298.13 and AL139826.15. On or before Jan 23, 2009 this sequence version replaced XP_941619.3, XP_001720372.1, XP_371397.5. 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## RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1288 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20q11.21" Protein 1..1288 /product="EF-hand calcium-binding domain-containing protein 8" /note="EF-hand domain-containing protein ENSP00000383366" /calculated_mol_wt=145738 Region 56..117 /region_name="EF-hand_7" /note="EF-hand domain pair; pfam13499" /db_xref="CDD:316058" Region 154..196 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 202..242 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 279..319 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 322..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...; cl25539" /db_xref="CDD:330360" Site order(322,340,355..356,387,391,397..398,411..412,430,435, 441..442,455,478,483,489,503..504,522,526,532..533, 545..546,566,571,577..578,590..591) /site_type="other" /note="structural tetrad" /db_xref="CDD:238121" Region 326..365 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 373..411 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 417..484 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 508..546 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 554..>676 /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...; cl25539" /db_xref="CDD:330360" Region 554..589 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 596..634 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 640..675 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 815..>982 /region_name="WD40" /note="WD40 repeat [General function prediction only]; COG2319" /db_xref="CDD:225201" CDS 1..1288 /gene="EFCAB8" /coded_by="NM_001143967.1:95..3961" /db_xref="GeneID:388795" /db_xref="HGNC:HGNC:34532" ORIGIN 1 mssedlaeip qlqklsiphg fqnkeaassp tpsitlsqvp dlqpgsqlft eihlakiekm 61 feedinstga lgmdafikam kkvlssvsde mlkelflkvd sdcegfvtwq kyvdymmref 121 qgkedmrksq yrlhfylpmt vvplnhgcev vkvvflihrf kkigcfltvt kdgilqfwse 181 sfslmssfrl nqtqqlynqp mwvidmvclh nmnlvavast rqkidffdis dhkcvraftf 241 vdldscalvm dywsdyhrgv fcygdakgnv ivftsenmts glfnprilpr askwdhwikv 301 slqkllneks alhrsyrlka lhpnwceqvk fipqmnvvvs csaieksslv ltilpakask 361 kprlsvlrlr kgilcfdycp drnflvtggy dafirlwnpf vskrpvwlmk ghqtsvthil 421 vdsrnnsili svskdknirv wdmldyiclq sfcgkffalg ncpitsayff ekdntlicst 481 ysigilkgyl eaqglikark rtthcsplca vlyskifkqv vsgclrgtvs vwevvtgrkt 541 mefavsggqh vemtamalde serclltglr dgtmkmwnyn igkclltfps peqleisgii 601 hmnkvfyvtg wskrithflf hktkpvllcy hwqtyhtedi lsmakyrnqf lgtssysgdi 661 lfwntgtlkp ifnfnasrsp splqpkrvqd vnnclaeshr psrpyverek wtyktsrkls 721 slspesvant nlrrslvsap pvmrcprdke pdrpvpqqkp ssasgtsrqs skihskqsiy 781 kedetrkgew qknmlvqssa svekiiflqt rprlphtaal lsscmdgyiy awslhenggl 841 lgkfpvdldn gdvvvgamat dkndwilitg dckgyikiwd ikdycalidk qpfqssgakv 901 vseahnkfrl lipqqlgtnf phyipledke vvaghtislv pptllmtwkg hlnsvadily 961 vdnfqlvisa gqdrdvkawk lsgdaigtfg lsvwkrlqda cdgprenras leedgdstgt 1021 tqkvlhlelq eqrdlaeali yqrreqaalm allhgkadke adtwaklqkm almspwager 1081 plediedswn kwesrdkqvs kvlgaaykpk erlqntrfls trvpygwmkh qispqvyqsl 1141 hfsdlmptqq pdfltsrgpd qqdqhirlva hhvqkdlvps reqavldttd stpaaassps 1201 sllsvtasas rlldsslptf ltpqfsfllr pqsastahst psvpspvsks tlqgsvtpkh 1261 ivssferppr plkatfmssv kgsshvrf // LOCUS NP_775900 184 aa linear PRI 07-AUG-2020 DEFINITION dynactin-associated protein isoform 1 [Homo sapiens]. ACCESSION NP_775900 VERSION NP_775900.2 DBSOURCE REFSEQ: accession NM_173629.3 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 184) AUTHORS Kunoh T, Noda T, Koseki K, Sekigawa M, Takagi M, Shin-ya K, Goshima N, Iemura S, Natsume T, Wada S, Mukai Y, Ohta S, Sasaki R and Mizukami T. TITLE A novel human dynactin-associated protein, dynAP, promotes activation of Akt, and ergosterol-related compounds induce dynAP-dependent apoptosis of human cancer cells JOURNAL Mol. Cancer Ther. 9 (11), 2934-2942 (2010) PUBMED 20978158 REMARK GeneRIF: DynAP, which promotes activation of Akt, can be a new target for cancer therapy. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC091135.9. On Sep 6, 2019 this sequence version replaced NP_775900.1. 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 :: AK096425.1, DA764456.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..184 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="18" /map="18q21.2" Protein 1..184 /product="dynactin-associated protein isoform 1" /calculated_mol_wt=19442 Region 82..111 /region_name="CLLAC" /note="CLLAC-motif containing domain; pfam15675" /db_xref="CDD:374008" CDS 1..184 /gene="DYNAP" /gene_synonym="C18orf26" /coded_by="NM_173629.3:39..593" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS11957.1" /db_xref="GeneID:284254" /db_xref="HGNC:HGNC:26808" ORIGIN 1 mdrkhgkyil nvehsenqpp ithpndqeah ssicwclpsn ditsdvspnl tgvcvnpgil 61 ahsrclqses cntqvkeycr ndwsmwkvfl acllacvimt aigvliiclv nnkgsanssi 121 viqlstndge cvtvkpgtps pacpptmttt stvpastate sttstataat tstepitvap 181 tdhl // LOCUS NP_001264335 1075 aa linear PRI 10-AUG-2020 DEFINITION POTE ankyrin domain family member I isoform 2 [Homo sapiens]. ACCESSION NP_001264335 XP_933678 VERSION NP_001264335.1 DBSOURCE REFSEQ: accession NM_001277406.2 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 1075) 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 2 (residues 1 to 1075) 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 3 (residues 1 to 1075) AUTHORS Chang KW, Yang PY, Lai HY, Yeh TS, Chen TC and Yeh CT. TITLE Identification of a novel actin isoform in hepatocellular carcinoma JOURNAL Hepatol. Res. 36 (1), 33-39 (2006) PUBMED 16824795 REFERENCE 4 (residues 1 to 1075) AUTHORS Hahn Y, Bera TK, Pastan IH and Lee B. TITLE Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains JOURNAL Gene 366 (2), 238-245 (2006) PUBMED 16364570 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC013269.10 and AC132479.2. On Apr 5, 2013 this sequence version replaced XP_933678.1. 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 and it is therefore inferred, but the full-length exon combination it is supported by partial human transcripts and the full-length paralogous transcript EF523384.1. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1075 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q21.1" Protein 1..1075 /product="POTE ankyrin domain family member I isoform 2" /calculated_mol_wt=121152 Region 158..>361 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); cl39094" /db_xref="CDD:393464" Region 172..201 /region_name="ANK 1" /note="propagated from UniProtKB/Swiss-Prot (P0CG38.1)" Region 174..203 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 205..236 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 205..234 /region_name="ANK 2" /note="propagated from UniProtKB/Swiss-Prot (P0CG38.1)" Site order(238,240,244..245,248..250,252..253,257,260,269,271, 273,277..278,281..283,285..286,290,293,302,304,306, 310..311,314..316,318..319,323,326,335) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 238..269 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 238..267 /region_name="ANK 3" /note="propagated from UniProtKB/Swiss-Prot (P0CG38.1)" Region 271..302 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 271..300 /region_name="ANK 4" /note="propagated from UniProtKB/Swiss-Prot (P0CG38.1)" Region 304..335 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 304..333 /region_name="ANK 5" /note="propagated from UniProtKB/Swiss-Prot (P0CG38.1)" Region <370..607 /region_name="2A1904" /note="K+-dependent Na+/Ca+ exchanger; TIGR00927" /db_xref="CDD:273344" Region 648..>701 /region_name="CCDC144C" /note="CCDC144C protein coiled-coil region; pfam14915" /db_xref="CDD:373382" Region 701..1075 /region_name="NBD_sugar-kinase_HSP70_actin" /note="Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily; cl17037" /db_xref="CDD:388382" Region 703..1075 /region_name="Actin-like" /note="propagated from UniProtKB/Swiss-Prot (P0CG38.1)" Site order(711..714,716,718,837,854..857) /site_type="other" /note="nucleotide binding site [chemical binding]" /db_xref="CDD:212657" CDS 1..1075 /gene="POTEI" /gene_synonym="POTE2beta" /coded_by="NM_001277406.2:94..3321" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS59431.1" /db_xref="GeneID:653269" /db_xref="HGNC:HGNC:37093" ORIGIN 1 mvaevdsmpa assvkkpfvl rskmgkwcrh cfpccrgsgk snvgtsgdqd dstmktlrsk 61 mgkwcchcfp ccrgsgksnv gtsgdhddsa mktlrskmgk wcchcfpccr gsgksnvgaw 121 gdyddsafve pryhvrredl dklhraawwg kvarkdlivm lrdtdvnkqd kqkrtalhla 181 sangnsgvvk llldrrcqln vldnkkrtal tkavqcqede calmllehgt dpnipdeygn 241 ttlhyaiyne dklmakalll ygadiesknk hgltplllgv heqkqqvvkf likkkanlna 301 ldrygrtali lavccgsasi vsllleqnid vssqdlsgqt areyavsshh hvicqllsdy 361 kekqmlkiss ensnpeqdlk ltseeesqrf kgsensqpek msqepeinkd gdreveeemk 421 khesnnvgll enlsngvtag ngddglipqr ksrtpenqqf pdneseeyhr icelvsdyke 481 kqmpkyssen snpeqdlklt seeesqrlkg sengqpekrs qepeinkdgd relenfmaie 541 emkkhgsthv gfpenltnga tagngddgli pprksrtpes qqfpdtenee yhsdeqndtq 601 kqfceeqntg ilhdeilihe ekqievvekm nselslsckk ekdflhenst lreeiamlrl 661 eldtmkhqsq lrkkkyledi esvkkkndnl lkalqlnelt mdddtavlvi dngsgmckag 721 fagddaprav fpsivgrprq qgmmggmhqk esyvgkeaqs krgiltlkyp mehgiitnwd 781 dmekiwhhtf ynelrvapee hpillteapl npkanrekmt qimfetfntp amyvaiqaml 841 slytsgrttg ivmdsgdgvt htvpiydgna lphatlrldl agreltdylm kiltergyrf 901 ttmaereivr dikeklcyva ldfeqemama assssleksy elpdgqviti gnewfrcpea 961 lfqpcflgme scgihettfn simksdvdir kdlytntvls ggttmypgma hrmqkeiaal 1021 apsmlkirii appkrkysvw vggsilasls tfqqmwiskq eydesgpsiv hrkcf // LOCUS NP_005285 349 aa linear PRI 10-AUG-2020 DEFINITION probable G-protein coupled receptor 21 [Homo sapiens]. ACCESSION NP_005285 VERSION NP_005285.1 DBSOURCE REFSEQ: accession NM_005294.3 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 Leonard S, Kinsella GK, Benetti E and Findlay JBC. TITLE Regulating the effects of GPR21, a novel target for type 2 diabetes JOURNAL Sci Rep 6, 27002 (2016) PUBMED 27243589 REMARK GeneRIF: GPR21 is up-regulated in type 2 diabetes. Publication Status: Online-Only REFERENCE 2 (residues 1 to 349) AUTHORS Bresnick JN, Skynner HA, Chapman KL, Jack AD, Zamiara E, Negulescu P, Beaumont K, Patel S and McAllister G. TITLE Identification of signal transduction pathways used by orphan g protein-coupled receptors JOURNAL Assay Drug Dev Technol 1 (2), 239-249 (2003) PUBMED 15090189 REFERENCE 3 (residues 1 to 349) AUTHORS O'Dowd BF, Nguyen T, Jung BP, Marchese A, Cheng R, Heng HH, Kolakowski LF Jr, Lynch KR and George SR. TITLE Cloning and chromosomal mapping of four putative novel human G-protein-coupled receptor genes JOURNAL Gene 187 (1), 75-81 (1997) PUBMED 9073069 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DN989991.1, DA792401.1, BC066885.1 and AK299686.1. Summary: This gene encodes a member of the G-protein-coupled receptor 1 family. G-protein coupled receptors are membrane proteins which activate signaling cascades as a response to extracellular stress. The encoded protein activates a Gq signal transduction pathway which mobilizes calcium. [provided by RefSeq, Nov 2012]. ##Evidence-Data-START## Transcript exon combination :: AK299686.1, AK313539.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## 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="9" /map="9q33.2" Protein 1..349 /product="probable G-protein coupled receptor 21" /calculated_mol_wt=39384 Site 2 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q99679.1)" Site 8 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q99679.1)" Region 31..308 /region_name="7tm_classA_rhodopsin-like" /note="rhodopsin receptor-like class A family of the seven-transmembrane G protein-coupled receptor superfamily; cd00637" /db_xref="CDD:320086" Region 31..56 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:320086" Site 33..53 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99679.1)" Region 64..90 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320086" Site 76..96 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99679.1)" Site order(86,89..90,102..107,109..110,113,158,160..164,188, 191..193,195..197,199..200,265,268..269,271..272,275,283, 285..287,290,293..294) /site_type="other" /note="putative ligand binding pocket [chemical binding]" /db_xref="CDD:320086" Region 102..132 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320086" Site 105..125 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99679.1)" Region 145..164 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320086" Site 148..168 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99679.1)" Region 188..213 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320086" Site 192..212 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99679.1)" Region 238..275 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320086" Site 253..273 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99679.1)" Region 283..308 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320086" Site 284..304 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q99679.1)" CDS 1..349 /gene="GPR21" /coded_by="NM_005294.3:473..1522" /db_xref="CCDS:CCDS6849.1" /db_xref="GeneID:2844" /db_xref="HGNC:HGNC:4476" /db_xref="MIM:601909" ORIGIN 1 mnstldgnqs shpfcllafg yletvnfcll evliivfltv liisgniivi fvfhcaplln 61 hhttsyfiqt mayadlfvgv scvvpslsll hhplpveesl tcqifgfvvs vlksvsmasl 121 acisidryia itkpltyntl vtpwrlrlci fliwlystlv flpsffhwgk pgyhgdvfqw 181 caeswhtdsy ftlfivmmly apaalivcft yfnifricqq htkdiserqa rfssqsgetg 241 evqacpdkry amvlfritsv fyilwlpyii yfllesstgh snrfasfltt wlaisnsfcn 301 cviyslsnsv fqrglkrlsg amctscasqt tandpytvrs kgplngchi // LOCUS NP_001287820 478 aa linear PRI 10-AUG-2020 DEFINITION PRAME family member 27 [Homo sapiens]. ACCESSION NP_001287820 XP_005276179 XP_006711143 VERSION NP_001287820.1 DBSOURCE REFSEQ: accession NM_001300891.2 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 478) AUTHORS Hermes N, Kewitz S and Staege MS. TITLE Preferentially Expressed Antigen in Melanoma (PRAME) and the PRAME Family of Leucine-Rich Repeat Proteins JOURNAL Curr Cancer Drug Targets 16 (5), 400-414 (2016) PUBMED 26694250 REMARK Review article REFERENCE 2 (residues 1 to 478) 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 REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC245056.3. On or before Jul 16, 2014 this sequence version replaced XP_006711143.1, XP_005276179.1. Sequence Note:. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..478 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.21" Protein 1..478 /product="PRAME family member 27" /calculated_mol_wt=55075 Region 17..40 /region_name="LRR 1. /evidence=ECO:0000255" /note="propagated from UniProtKB/Swiss-Prot (A3QJZ7.2)" Region 99..126 /region_name="LRR 1, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A3QJZ7.2)" Region 181..205 /region_name="LRR 2, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A3QJZ7.2)" Region 206..232 /region_name="LRR 3, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A3QJZ7.2)" Region 233..268 /region_name="LRR 4, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A3QJZ7.2)" Region 269..294 /region_name="LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A3QJZ7.2)" Region 295..326 /region_name="LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A3QJZ7.2)" Region 327..348 /region_name="LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A3QJZ7.2)" Region 351..378 /region_name="LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A3QJZ7.2)" Region 379..403 /region_name="LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A3QJZ7.2)" CDS 1..478 /gene="PRAMEF27" /coded_by="NM_001300891.2:179..1615" /db_xref="CCDS:CCDS72704.1" /db_xref="GeneID:101929983" /db_xref="HGNC:HGNC:51234" ORIGIN 1 mkmsirtppr llelagrsll rdqalamstl eelptelfpp lfmeafsrrc cealklmvqa 61 wpfrrlplrp likmpcleaf qavldgldal ltqgvcprrw klqvldlqdv cenfwmvwse 121 amargsflna krnktpvqdc prmrgqqplt vfvelwlknr tldeyltyll lwvkqrkdll 181 hlcckklkil gmpfrnirsi lkmvnldciq evevnckwvl piltqftpyl ghmrnlqklv 241 lshmdvsryv speqkkeivt qfttqflklh clqklymnsv sfleghldql lsclktslkv 301 ltitncvlle sdlkhlsqcp sisqlktldl sgirltnysl vplqillekv aatleyldld 361 dcgiidsqvn ailpalsrcf elnafsfcgn pismatlenl lshtiilknl cvevypapre 421 sygadgtlcw nrfaqirael mnrvrdlrhp kriffcidnc pdcgnrsfyd leadqycc // LOCUS NP_001356704 251 aa linear PRI 10-AUG-2020 DEFINITION kallikrein-14 preproprotein [Homo sapiens]. ACCESSION NP_001356704 VERSION NP_001356704.1 DBSOURCE REFSEQ: accession NM_001369775.2 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 251) AUTHORS Dettmar L, Ahmed N, Kotzsch M, Diersch S, Napieralski R, Darmoul D, Schmitt M, Weichert W, Kiechle M, Dorn J and Magdolen V. TITLE Advanced high-grade serous ovarian cancer: inverse association of KLK13 and KLK14 mRNA levels in tumor tissue and patients' prognosis JOURNAL J. Cancer Res. Clin. Oncol. 144 (6), 1109-1118 (2018) PUBMED 29546479 REMARK GeneRIF: There was no significant association of KLK13 and KLK14 mRNA expression with the clinical factors ascitic fluid volume or residual tumor mass. High KLK14 mRNA levels were significantly associated with prolonged PFS (HR = 0.44, P = 0.017) and showed a trend towards significance for OS (HR = 0.55, P = 0.070). REFERENCE 2 (residues 1 to 251) AUTHORS Solis-Calero C and Carvalho HF. TITLE KLK14 interactions with HAI-1 and HAI-2 serine protease inhibitors: A molecular dynamics and relative free-energy calculations study JOURNAL Cell Biol. Int. 41 (11), 1246-1264 (2017) PUBMED 28817220 REMARK GeneRIF: In this work, KLK14 binding to either hepatocyte growth factor activator inhibitor type-1 (HAI-1) or type-2 (HAI-2) was essayed using homology modeling, molecular dynamic simulations and free-energy calculations through MM/PBSA and MM/GBSA. KLK14 was successfully modeled. REFERENCE 3 (residues 1 to 251) AUTHORS Reid,J.C., Bennett,N.C., Stephens,C.R., Carroll,M.L., Magdolen,V., Clements,J.A. and Hooper,J.D. TITLE In vitro evidence that KLK14 regulates the components of the HGF/Met axis, pro-HGF and HGF-activator inhibitor 1A and 1B JOURNAL Biol. Chem. 397 (12), 1299-1305 (2016) PUBMED 27533117 REMARK GeneRIF: increased KLK14 activity could contribute at multiple levels to HGF/Met-mediated processes in prostate and other cancers REFERENCE 4 (residues 1 to 251) AUTHORS Devetzi M, Trangas T, Scorilas A, Xynopoulos D and Talieri M. TITLE Parallel overexpression and clinical significance of kallikrein-related peptidases 7 and 14 (KLK7KLK14) in colon cancer JOURNAL Thromb. Haemost. 109 (4), 716-725 (2013) PUBMED 23224034 REMARK GeneRIF: KLK7 and KLK14 gene expression can be regarded as markers of poor prognosis for colorectal cancer patients with discriminating power between CC and adenoma patients. REFERENCE 5 (residues 1 to 251) AUTHORS Stefansson K, Brattsand M, Ny A, Glas B and Egelrud T. TITLE Kallikrein-related peptidase 14 may be a major contributor to trypsin-like proteolytic activity in human stratum corneum JOURNAL Biol. Chem. 387 (6), 761-768 (2006) PUBMED 16800737 REMARK GeneRIF: The majority of KLK14 in the plantar stratum corneum is present in its catalytically active form. KLK14 could be immunohistochemically detected in sweat ducts, preferentially in the intraepidermal parts (the acrosyringium), and in sweat glands. REFERENCE 6 (residues 1 to 251) AUTHORS Yousef GM, Stephan C, Scorilas A, Ellatif MA, Jung K, Kristiansen G, Jung M, Polymeris ME and Diamandis EP. TITLE Differential expression of the human kallikrein gene 14 (KLK14) in normal and cancerous prostatic tissues JOURNAL Prostate 56 (4), 287-292 (2003) PUBMED 12858357 REMARK GeneRIF: KLK14 expression upregulated in advanced and more aggressive prostate tumors; may play role in tumor spread and may be new marker for prostate cancer diagnosis and prognosis REFERENCE 7 (residues 1 to 251) AUTHORS Yousef GM, Borgono CA, Scorilas A, Ponzone R, Biglia N, Iskander L, Polymeris ME, Roagna R, Sismondi P and Diamandis EP. TITLE Quantitative analysis of human kallikrein gene 14 expression in breast tumours indicates association with poor prognosis JOURNAL Br. J. Cancer 87 (11), 1287-1293 (2002) PUBMED 12439719 REMARK GeneRIF: KLK14 overexpression was found to be a significant predictor of decreased disease-free survival and overall survival in breast cancer patients REFERENCE 8 (residues 1 to 251) AUTHORS Yousef GM, Magklara A, Chang A, Jung K, Katsaros D and Diamandis EP. TITLE Cloning of a new member of the human kallikrein gene family, KLK14, which is down-regulated in different malignancies JOURNAL Cancer Res. 61 (8), 3425-3431 (2001) PUBMED 11309303 REFERENCE 9 (residues 1 to 251) AUTHORS Hooper JD, Bui LT, Rae FK, Harvey TJ, Myers SA, Ashworth LK and Clements JA. TITLE Identification and characterization of KLK14, a novel kallikrein serine protease gene located on human chromosome 19q13.4 and expressed in prostate and skeletal muscle JOURNAL Genomics 73 (1), 117-122 (2001) PUBMED 11352573 REFERENCE 10 (residues 1 to 251) AUTHORS Harvey TJ, Hooper JD, Myers SA, Stephenson SA, Ashworth LK and Clements JA. TITLE Tissue-specific expression patterns and fine mapping of the human kallikrein (KLK) locus on proximal 19q13.4 JOURNAL J. Biol. Chem. 275 (48), 37397-37406 (2000) PUBMED 10969073 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC011473.4. Summary: This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]. Transcript Variant: This variant (3) differs in the 5' and 3' UTRs compared to variant 1. Variants 1-3 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC074905.2, AF283670.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..251 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.41" Protein 1..251 /product="kallikrein-14 preproprotein" /note="kallikrein-like protein 6; kallikrein-14" /calculated_mol_wt=25506 sig_peptide 1..18 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1964 Region 25..247 /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 25 /site_type="cleavage" /db_xref="CDD:238113" Site order(67,111,204) /site_type="active" /db_xref="CDD:238113" Site order(198,219,221) /site_type="other" /note="substrate binding sites [chemical binding]" /db_xref="CDD:238113" CDS 1..251 /gene="KLK14" /gene_synonym="KLK-L6" /coded_by="NM_001369775.2:189..944" /db_xref="GeneID:43847" /db_xref="HGNC:HGNC:6362" /db_xref="MIM:606135" ORIGIN 1 mfllltalqv laiamtqsqe denkiigght ctrssqpwqa allagprrrf lcggallsgq 61 wvitaahcgr pilqvalgkh nlrrweatqq vlrvvrqvth pnynsrthdn dlmllqlqqp 121 arigravrpi evtqacaspg tscrvsgwgt isspiarypa slqcvninis pdevcqkayp 181 rtitpgmvca gvpqggkdsc qgdsggplvc rgqlqglvsw gmercalpgy pgvytnlcky 241 rswieetmrd k // LOCUS NP_001350436 501 aa linear PRI 10-AUG-2020 DEFINITION IQ domain-containing protein M isoform 1 [Homo sapiens]. ACCESSION NP_001350436 XP_024310075 VERSION NP_001350436.1 DBSOURCE REFSEQ: accession NM_001363507.2 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 501) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC096756.3, AC093893.2, AC027058.9, AC108168.4 and AC097465.2. On May 21, 2018 this sequence version replaced XP_024310075.1. 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 :: SRR5189667.127254.1, SRR5189667.228308.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..501 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q31.23" Protein 1..501 /product="IQ domain-containing protein M isoform 1" /note="iQ domain-containing protein M" /calculated_mol_wt=59456 CDS 1..501 /gene="IQCM" /coded_by="NM_001363507.2:331..1836" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS87270.1" /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 ifrdyysktf ktlikkerqp 241 ikpepksqpr ikgtpnktdk ldskvkrigp hieifqvfre rkkfmitpkl irmvtvmqah 301 vrgwlerkrl qrvmtkaldh gpdmkavinm ygrlihrvry rrglwrtrqi lnlaeleewm 361 drkkfyeimf akredwpkie rnelpnffsd cghfptqkqv ddtwdlvhqd gkekyselik 421 kskaiemlft lyppegahvp dstllkstwl rpivngeegy ryivnghpal kranirvvgk 481 lvarsirerk mrqhyksckv e // LOCUS NP_001004753 330 aa linear PRI 10-AUG-2020 DEFINITION olfactory receptor 51F2 [Homo sapiens]. ACCESSION NP_001004753 XP_061626 VERSION NP_001004753.2 DBSOURCE REFSEQ: accession NM_001004753.2 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 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 VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC136877.1 and AC103710.2. On Nov 7, 2018 this sequence version replaced NP_001004753.1. 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]. CCDS Note: The coding region has been updated to start at an alternate in-frame start codon that is supported by conservation data. ##Evidence-Data-START## Transcript is intronless :: BC136877.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved 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="11" /map="11p15.4" Protein 1..330 /product="olfactory receptor 51F2" /note="olfactory receptor OR11-23" /calculated_mol_wt=37075 Region 27..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" 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" Region 142..163 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320350" Region 197..227 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320350" Region 234..264 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320350" Region 273..298 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320350" CDS 1..330 /gene="OR51F2" /gene_synonym="OR11-23" /coded_by="NM_001004753.2:102..1094" /db_xref="CCDS:CCDS31361.1" /db_xref="GeneID:119694" /db_xref="HGNC:HGNC:15197" ORIGIN 1 msvlnntiae plifllmgip glkatqywis ipfcllyvva vsgnsmilfv vlcerslhkp 61 myyflsmlsa tdlslslctl sttlgvfwfe areinlnaci aqmfflhgft fmesgvllam 121 afdrfvaicy plryttiltn ariakigmsm lirnvavmlp vmlfvkrlsf cssmvlshsy 181 cyhvdliqls ctdnrinsil glfallsttg fdcpcillsy iliirsvlsi asseerrkaf 241 ntctshisav sifylplisl slvhryghsa ppfvhiiman vfllippvln piiysvkikq 301 iqkaiikvli qkhsksnhql flirdkaiye // LOCUS NP_001264012 1038 aa linear PRI 10-AUG-2020 DEFINITION POTE ankyrin domain family member J [Homo sapiens]. ACCESSION NP_001264012 XP_003960358 XP_934799 VERSION NP_001264012.1 DBSOURCE REFSEQ: accession NM_001277083.2 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 1038) 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 2 (residues 1 to 1038) 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 3 (residues 1 to 1038) AUTHORS Wang Y and Leung FC. TITLE Discovery of a long inverted repeat in human POTE genes JOURNAL Genomics 94 (4), 278-283 (2009) PUBMED 19463943 REFERENCE 4 (residues 1 to 1038) AUTHORS Bera TK, Saint Fleur A, Ha D, Yamada M, Lee Y, Lee B, Hahn Y, Kaufman DS, Pera M and Pastan I. TITLE Selective POTE paralogs on chromosome 2 are expressed in human embryonic stem cells JOURNAL Stem Cells Dev. 17 (2), 325-332 (2008) PUBMED 18447647 REFERENCE 5 (residues 1 to 1038) AUTHORS Lee Y, Ise T, Ha D, Saint Fleur A, Hahn Y, Liu XF, Nagata S, Lee B, Bera TK and Pastan I. TITLE Evolution and expression of chimeric POTE-actin genes in the human genome JOURNAL Proc. Natl. Acad. Sci. U.S.A. 103 (47), 17885-17890 (2006) PUBMED 17101985 REFERENCE 6 (residues 1 to 1038) AUTHORS Chang KW, Yang PY, Lai HY, Yeh TS, Chen TC and Yeh CT. TITLE Identification of a novel actin isoform in hepatocellular carcinoma JOURNAL Hepatol. Res. 36 (1), 33-39 (2006) PUBMED 16824795 REFERENCE 7 (residues 1 to 1038) AUTHORS Hahn Y, Bera TK, Pastan IH and Lee B. TITLE Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains JOURNAL Gene 366 (2), 238-245 (2006) PUBMED 16364570 REFERENCE 8 (residues 1 to 1038) AUTHORS Bera TK, Saint Fleur A, Lee Y, Kydd A, Hahn Y, Popescu NC, Zimonjic DB, Lee B and Pastan I. TITLE POTE paralogs are induced and differentially expressed in many cancers JOURNAL Cancer Res. 66 (1), 52-56 (2006) PUBMED 16397215 REFERENCE 9 (residues 1 to 1038) AUTHORS Bera TK, Zimonjic DB, Popescu NC, Sathyanarayana BK, Kumar V, Lee B and Pastan I. TITLE POTE, a highly homologous gene family located on numerous chromosomes and expressed in prostate, ovary, testis, placenta, and prostate cancer JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (26), 16975-16980 (2002) PUBMED 12475935 REMARK Erratum:[Proc Natl Acad Sci U S A. 2003 Feb 4;100(3):1462] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC140481.3. On or before Mar 7, 2013 this sequence version replaced XP_003960358.1, XP_934799.2. 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. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1038 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q21.1" Protein 1..1038 /product="POTE ankyrin domain family member J" /calculated_mol_wt=117259 Region 106..156 /region_name="Ank_4" /note="Ankyrin repeats (many copies); pfam13637" /db_xref="CDD:290365" Region 130..255 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 135..164 /region_name="ANK 1" /note="propagated from UniProtKB/Swiss-Prot (P0CG39.1)" Region 137..166 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 140..232 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 168..199 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 168..197 /region_name="ANK 2" /note="propagated from UniProtKB/Swiss-Prot (P0CG39.1)" Region 196..320 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Site order(201,203,207..208,211..213,215..216,220,223,232,234, 236,240..241,244..246,248..249,253,256,265,267,269, 273..274,277..279,281..282,286,289,298) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 201..232 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 201..230 /region_name="ANK 3" /note="propagated from UniProtKB/Swiss-Prot (P0CG39.1)" Region 206..298 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 234..265 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 234..263 /region_name="ANK 4" /note="propagated from UniProtKB/Swiss-Prot (P0CG39.1)" Region 267..298 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 267..296 /region_name="ANK 5" /note="propagated from UniProtKB/Swiss-Prot (P0CG39.1)" Region 664..1038 /region_name="NBD_sugar-kinase_HSP70_actin" /note="Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily; cl17037" /db_xref="CDD:302596" Region 666..1038 /region_name="Actin-like" /note="propagated from UniProtKB/Swiss-Prot (P0CG39.1)" Region 668..1038 /region_name="ACTIN" /note="Actin; smart00268" /db_xref="CDD:214592" Site order(674..677,679,681,800,817..820) /site_type="other" /note="nucleotide binding site [chemical binding]" /db_xref="CDD:212657" CDS 1..1038 /gene="POTEJ" /gene_synonym="POTE2beta" /coded_by="NM_001277083.2:94..3210" /db_xref="CCDS:CCDS59432.1" /db_xref="GeneID:653781" /db_xref="HGNC:HGNC:37094" ORIGIN 1 mvaevdsmpa assvkkpfvl rskmgkwcrh cfpccrgsgk snvgtsgdqd dstmktlrsk 61 mgkwcchcfp ccrgsgksnv gawgdyddsa fvepryhvrr edldklhraa wwgkvarkdl 121 ivmlrdtdvn kqdkqkrtal hlasangnsg vvkllldrrc qlnvldnkkr taltkavqcq 181 edecalmlle hgtdpnipde ygnttlhyai ynedklmaka lllygadies knkhgltpll 241 lgvheqkqqv vkflikkkan lnaldrygrt alilavccgs asivsllleq nidvssqdls 301 gqtareyavs shhhvicqll sdykekqmlk issensnpeq dlkltseees qrfkgsensq 361 pekmsqepei nkdgdrevee emkkhesnnv gllenlsngv tagngddgli pqrksrtpen 421 qqfpdnesee yhricelvsd ykekqmpkys sensnpeqdl kltseeesqr lkgsengqpe 481 krsqepeink dgdrelenfm aieemkkhgs thvgfpenlt ngatagngdd glipprksrt 541 pesqqfpdte neeyhsdeqn dtqkqfceeq ntgilhdeil iheekqievv ekmnselsls 601 ckkerdflhe nsmlreeiam lrleldtmkh qsqlrkkkyl ediesvkkkn dnllkalqln 661 eltmdddtav lvidngsgmc kagfagddap ravfpsivgc prqqgmmggm hqkesyvgke 721 aqskrgiltl kypmehgiit nwddmekiwh htfynelrva peehpillte aplnpkanre 781 kmtqimfetf ntpamyvaiq amlslytsgr ttgivmdsgd gvthtvpiyd gnalphatlr 841 ldlagreltd ylmkilterg yrfttmaere ivrdikeklc yvaldfeqem amvassssle 901 ksyelpdgqv itisnewfrc pealfqpcfl gmescgihet tfnsimksdv dirkdlytnt 961 vlsggttmyp gmahrmqkei aalapsmmki riiappkrky svwvggsila slstfqqmwi 1021 skqeydesgp sivhrkcf // LOCUS NP_001315537 478 aa linear PRI 10-AUG-2020 DEFINITION pentraxin-4 isoform 1 precursor [Homo sapiens]. ACCESSION NP_001315537 VERSION NP_001315537.1 DBSOURCE REFSEQ: accession NM_001328608.2 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 478) AUTHORS Estrada K, Styrkarsdottir U, Evangelou E, Hsu YH, Duncan EL, Ntzani EE, Oei L, Albagha OM, Amin N, Kemp JP, Koller DL, Li G, Liu CT, Minster RL, Moayyeri A, Vandenput L, Willner D, Xiao SM, Yerges-Armstrong LM, Zheng HF, Alonso N, Eriksson J, Kammerer CM, Kaptoge SK, Leo PJ, Thorleifsson G, Wilson SG, Wilson JF, Aalto V, Alen M, Aragaki AK, Aspelund T, Center JR, Dailiana Z, Duggan DJ, Garcia M, Garcia-Giralt N, Giroux S, Hallmans G, Hocking LJ, Husted LB, Jameson KA, Khusainova R, Kim GS, Kooperberg C, Koromila T, Kruk M, Laaksonen M, Lacroix AZ, Lee SH, Leung PC, Lewis JR, Masi L, Mencej-Bedrac S, Nguyen TV, Nogues X, Patel MS, Prezelj J, Rose LM, Scollen S, Siggeirsdottir K, Smith AV, Svensson O, Trompet S, Trummer O, van Schoor NM, Woo J, Zhu K, Balcells S, Brandi ML, Buckley BM, Cheng S, Christiansen C, Cooper C, Dedoussis G, Ford I, Frost M, Goltzman D, Gonzalez-Macias J, Kahonen M, Karlsson M, Khusnutdinova E, Koh JM, Kollia P, Langdahl BL, Leslie WD, Lips P, Ljunggren O, Lorenc RS, Marc J, Mellstrom D, Obermayer-Pietsch B, Olmos JM, Pettersson-Kymmer U, Reid DM, Riancho JA, Ridker PM, Rousseau F, Slagboom PE, Tang NL, Urreizti R, Van Hul W, Viikari J, Zarrabeitia MT, Aulchenko YS, Castano-Betancourt M, Grundberg E, Herrera L, Ingvarsson T, Johannsdottir H, Kwan T, Li R, Luben R, Medina-Gomez C, Palsson ST, Reppe S, Rotter JI, Sigurdsson G, van Meurs JB, Verlaan D, Williams FM, Wood AR, Zhou Y, Gautvik KM, Pastinen T, Raychaudhuri S, Cauley JA, Chasman DI, Clark GR, Cummings SR, Danoy P, Dennison EM, Eastell R, Eisman JA, Gudnason V, Hofman A, Jackson RD, Jones G, Jukema JW, Khaw KT, Lehtimaki T, Liu Y, Lorentzon M, McCloskey E, Mitchell BD, Nandakumar K, Nicholson GC, Oostra BA, Peacock M, Pols HA, Prince RL, Raitakari O, Reid IR, Robbins J, Sambrook PN, Sham PC, Shuldiner AR, Tylavsky FA, van Duijn CM, Wareham NJ, Cupples LA, Econs MJ, Evans DM, Harris TB, Kung AW, Psaty BM, Reeve J, Spector TD, Streeten EA, Zillikens MC, Thorsteinsdottir U, Ohlsson C, Karasik D, Richards JB, Brown MA, Stefansson K, Uitterlinden AG, Ralston SH, Ioannidis JP, Kiel DP and Rivadeneira F. TITLE Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture JOURNAL Nat. Genet. 44 (5), 491-501 (2012) PUBMED 22504420 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 478) AUTHORS Martinez de la Torre Y, Fabbri M, Jaillon S, Bastone A, Nebuloni M, Vecchi A, Mantovani A and Garlanda C. TITLE Evolution of the pentraxin family: the new entry PTX4 JOURNAL J. Immunol. 184 (9), 5055-5064 (2010) PUBMED 20357257 REMARK GeneRIF: Study of long pentraxin PTX4 in silico and by transcript expression shows that the gene clusters alone in phylogenetic analysis, is well conserved from mammals to lower vertebrates, and has a unique pattern of messenger RNA expression. REFERENCE 3 (residues 1 to 478) 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 AL031705.25. Summary: This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]. Transcript Variant: This variant (1) encodes the longer isoform (1). This transcript is based on data in PMID:20357257. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..478 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p13.3" Protein 1..478 /product="pentraxin-4 isoform 1 precursor" /note="neuronal pentraxin-like protein C16orf38; pentraxin 4, long; long pentraxin 4" /calculated_mol_wt=49510 sig_peptide 1..25 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2847 Site 67 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96A99.2)" Site 91 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96A99.2)" Region 270..467 /region_name="PTX" /note="Pentraxins are plasma proteins characterized by their pentameric discoid assembly and their Ca2+ dependent ligand binding, such as Serum amyloid P component (SAP) and C-reactive Protein (CRP), which are cytokine-inducible acute-phase proteins implicated...; cd00152" /db_xref="CDD:238086" Site order(323,406,408,415,418) /site_type="other" /note="calcium mediated ligand binding site" /db_xref="CDD:238086" CDS 1..478 /gene="PTX4" /gene_synonym="C16orf38" /coded_by="NM_001328608.2:36..1472" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS86492.1" /db_xref="GeneID:390667" /db_xref="HGNC:HGNC:14171" /db_xref="MIM:613442" ORIGIN 1 mgcswrktls fflvfvpiyl hgassqeaap vgprkpffer lrrleeqfrr fqevtwthlq 61 niasnynvsy nvdvrfrsla eesqavaqav nrsqasvqge laqlkawvrk lqrrgrkvdt 121 rlraldltlg ersqqrarer kahkaqrdal qdslarlegl vhsqgarlaa legrlpvahp 181 gtaalgpalv ptptqpeelg ptslklqrdr qelraasehr gppqdssapl qgrreppasg 241 shrvlsgtap kdprqqawsp qvpgeicgvg ptlvfpnast rnvvflspgf vtalralsfc 301 swvrtasgrl gtllsyated ndnklvlhgr dsllpgsihf vigdpafrel plqllldgqw 361 hhicviwtst qgrywlhvdr rlvatgsrfr egyeippggs lvlgqeqdsv gggfdsseaf 421 vgsmsglaiw dralvpgeva nlaigkefpt gailtlanaa laggfvqgan ctclercp // LOCUS NP_001308174 259 aa linear PRI 11-AUG-2020 DEFINITION phospholipid scramblase family member 5 isoform 2 [Homo sapiens]. ACCESSION NP_001308174 XP_005247497 VERSION NP_001308174.1 DBSOURCE REFSEQ: accession NM_001321245.2 KEYWORDS RefSeq. SOURCE Homo 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 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 AY436642.1, BC157886.1 and BX431427.2. On Mar 18, 2016 this sequence version replaced XP_005247497.1. 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 :: BC171917.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..259 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q24" Protein 1..259 /product="phospholipid scramblase family member 5 isoform 2" /calculated_mol_wt=28611 Region 47..253 /region_name="LOR" /note="LURP-one-related; cl02043" /db_xref="CDD:321781" CDS 1..259 /gene="PLSCR5" /coded_by="NM_001321245.2:135..914" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS82853.1" /db_xref="GeneID:389158" /db_xref="HGNC:HGNC:19952" ORIGIN 1 maskdaqnqr rglpgflpga pdpdqslpas snpgnqawql slplpssflp tldliiihqq 61 vellgmilgt etsnkyeikn slgqriyfav eesicfnrtf cstlrsctlr itdnsgrevi 121 tvnrplrcns cwcpcylqel eiqappgtiv gyvtqkwdpf lpkftiqnan kedilkivgp 181 cvtcgcfgdv dfevktinek ltigkiskyw sgfvndvftn adnfgihvpa dldvtvkaam 241 igacflfdfm ffehslagl // LOCUS NP_001239202 162 aa linear PRI 13-AUG-2020 DEFINITION divergent protein kinase domain 1A isoform 5 [Homo sapiens]. ACCESSION NP_001239202 VERSION NP_001239202.1 DBSOURCE REFSEQ: accession NM_001252273.2 KEYWORDS RefSeq. SOURCE Homo 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 Dudkiewicz M, Lenart A and Pawlowski K. TITLE A novel predicted calcium-regulated kinase family implicated in neurological disorders JOURNAL PLoS ONE 8 (6), e66427 (2013) PUBMED 23840464 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 162) AUTHORS Tennant-Eyles AJ, Moffitt H, Whitehouse CA and Roberts RG. TITLE Characterisation of the FAM69 family of cysteine-rich endoplasmic reticulum proteins JOURNAL Biochem. Biophys. Res. Commun. 406 (3), 471-477 (2011) PUBMED 21334309 REFERENCE 3 (residues 1 to 162) 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 4 (residues 1 to 162) AUTHORS Alcina A, Fernandez O, Gonzalez JR, Catala-Rabasa A, Fedetz M, Ndagire D, Leyva L, Guerrero M, Arnal C, Delgado C, Lucas M, Izquierdo G and Matesanz F. TITLE Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis JOURNAL Eur. J. Hum. Genet. 18 (7), 827-831 (2010) PUBMED 20087403 REMARK GeneRIF: An analysis and fine mapping of GFI-EVI5-RPL5-FAM69A locus, genotyping eight Tag-single nucleotide polymorphisms in 732 multiple sclerosis patients and 974 controls from Spain, was performed. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (residues 1 to 162) AUTHORS Hoppenbrouwers IA, Aulchenko YS, Janssens AC, Ramagopalan SV, Broer L, Kayser M, Ebers GC, Oostra BA, van Duijn CM and Hintzen RQ. TITLE Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis JOURNAL J. Hum. Genet. 54 (11), 676-680 (2009) PUBMED 19834503 REMARK GeneRIF: Observational study and meta-analysis of gene-disease association. (HuGE Navigator) REFERENCE 6 (residues 1 to 162) CONSRTM Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene) TITLE Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20 JOURNAL Nat. Genet. 41 (7), 824-828 (2009) PUBMED 19525955 REFERENCE 7 (residues 1 to 162) AUTHORS D'Netto MJ, Ward H, Morrison KM, Ramagopalan SV, Dyment DA, DeLuca GC, Handunnetthi L, Sadovnick AD and Ebers GC. TITLE Risk alleles for multiple sclerosis in multiplex families JOURNAL Neurology 72 (23), 1984-1988 (2009) PUBMED 19506219 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 8 (residues 1 to 162) AUTHORS Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ, De Jager PL, de Bakker PI, Gabriel SB, Mirel DB, Ivinson AJ, Pericak-Vance MA, Gregory SG, Rioux JD, McCauley JL, Haines JL, Barcellos LF, Cree B, Oksenberg JR and Hauser SL. CONSRTM International Multiple Sclerosis Genetics Consortium TITLE Risk alleles for multiple sclerosis identified by a genomewide study JOURNAL N. Engl. J. Med. 357 (9), 851-862 (2007) PUBMED 17660530 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB475309.1, BC070342.1 and DA736826.1. Summary: This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]. Transcript Variant: This variant (5) uses an alternate terminal exon, which results in a frameshift and different 3' UTR, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: BC070342.1, SRR1803615.294611.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..162 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p22.1" Protein 1..162 /product="divergent protein kinase domain 1A isoform 5" /note="protein FAM69A; family with sequence similarity 69 member A" /calculated_mol_wt=18847 Region 20..159 /region_name="PIP49_N" /note="N-term cysteine-rich ER, FAM69; pfam14875" /db_xref="CDD:317303" Site 28..48 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q5T7M9.1)" CDS 1..162 /gene="DIPK1A" /gene_synonym="FAM69A" /coded_by="NM_001252273.2:34..522" /note="isoform 5 is encoded by transcript variant 5" /db_xref="CCDS:CCDS72825.1" /db_xref="GeneID:388650" /db_xref="HGNC:HGNC:32213" /db_xref="MIM:614542" ORIGIN 1 marslcpgaw lrkpyylqar fsyvrmkylf fswlvvfvgs wiiyvqysty telcrgkdck 61 kiicdkyktg vidgpacnsl cvtetlyfgk clstkpnnqm ylgiwdnlpg vvkcqmeqal 121 hldfgtelep rkeivlfdkp trgttvqkfk emvyslfkdq hr // LOCUS NP_001278938 3165 aa linear PRI 13-AUG-2020 DEFINITION protein eyes shut homolog isoform 4 precursor [Homo sapiens]. ACCESSION NP_001278938 VERSION NP_001278938.1 DBSOURCE REFSEQ: accession NM_001292009.2 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 3165) AUTHORS Iwanami M, Oishi A, Ogino K, Seko Y, Nishida-Shimizu T, Yoshimura N and Kato S. TITLE Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa JOURNAL Mol. Vis. 25, 766-779 (2019) PUBMED 31814702 REMARK GeneRIF: This is the first report showing the pathogenicity of three missense variants (p.(Gly843Glu), p.(Gly2186Glu), and p.(Ile2188Thr)) and the presence of copy number variations in the EYS gene. Publication Status: Online-Only REFERENCE 2 (residues 1 to 3165) AUTHORS Ji D, Xing W, Li F, Huang Z, Zheng W, Hu B, Niu F, Zhu Y and Yang X. TITLE Correlation of EYS polymorphisms with lumbar disc herniation risk among Han Chinese population JOURNAL Mol Genet Genomic Med 7 (9), e890 (2019) PUBMED 31359629 REMARK GeneRIF: These results suggest that EYS polymorphism may be associated with lumbar disc herniation among Han Chinese population. It also opens up a new exploration direction for the etiology of lumbar disc herniation. REFERENCE 3 (residues 1 to 3165) AUTHORS Pierrache LHM, Messchaert M, Thiadens AAHJ, Haer-Wigman L, de Jong-Hesse Y, van Zelst-Stams WAG, Collin RWJ, Klaver CCW and van den Born LI. TITLE Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy JOURNAL Invest. Ophthalmol. Vis. Sci. 60 (6), 2049-2063 (2019) PUBMED 31074760 REMARK GeneRIF: Identical EYS variants were found in cases with RP, CRD, and macular dystrophy. Screening for EYS variants in CRD and macular dystrophy patients might increase the diagnostic yield in previously unsolved cases REFERENCE 4 (residues 1 to 3165) AUTHORS Xiao X, Cao Y, Chen S, Chen M, Mai X, Zheng Y, Zhuang X, Ng TK and Chen H. TITLE Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa JOURNAL Mol. Vis. 25, 35-46 (2019) PUBMED 30804660 REMARK GeneRIF: The study identified eight novel EYS variants and expanded the spectrum of EYS mutations in Chinese retinitis pigmentosa patients. Publication Status: Online-Only REFERENCE 5 (residues 1 to 3165) AUTHORS Collin RW, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EA, Strom TM, Hoyng CB, den Hollander AI and Cremers FP. TITLE Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa JOURNAL Am. J. Hum. Genet. 83 (5), 594-603 (2008) PUBMED 18976725 REMARK GeneRIF: EYS is identified as a human ortholog of Drosopbhila eys, which is mutated in patients with retinitis pigmentosa. REFERENCE 6 (residues 1 to 3165) AUTHORS Barragan I, Abd El-Aziz MM, Borrego S, El-Ashry MF, O'Driscoll C, Bhattacharya SS and Antinolo G. TITLE Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families JOURNAL Ann. Hum. Genet. 72 (Pt 4), 454-462 (2008) PUBMED 18510647 REMARK GeneRIF: In order to validate the original linkage of RP25, study undertook a total genome scan using the 10K GeneChip mapping array on 3 of the previously linked families; data obtained supported the initial findings of linkage. REFERENCE 7 (residues 1 to 3165) AUTHORS Abd El-Aziz MM, Barragan I, O'Driscoll C, Borrego S, Abu-Safieh L, Pieras JI, El-Ashry MF, Prigmore E, Carter N, Antinolo G and Bhattacharya SS. TITLE Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval JOURNAL Ann. Hum. Genet. 72 (Pt 4), 463-477 (2008) PUBMED 18510646 REMARK GeneRIF: To study if copy number variation exists within RP25, comparative genomic hybridization analysis on a consanguineous family revealed a clone, chr6tp-19C7, spanning 100-Kb was deleted in all affected members of the family. Erratum:[Ann Hum Genet. 2015 Jan;79(1):83] REFERENCE 8 (residues 1 to 3165) AUTHORS Khaliq,S., Hameed,A., Ismail,M., Mehdi,S.Q., Bessant,D.A., Payne,A.M. and Bhattacharya,S.S. TITLE Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin JOURNAL Am. J. Hum. Genet. 65 (2), 571-574 (1999) PUBMED 10417302 REFERENCE 9 (residues 1 to 3165) AUTHORS Ruiz A, Borrego S, Marcos I and Antinolo G. TITLE A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters JOURNAL Am. J. Hum. Genet. 62 (6), 1452-1459 (1998) PUBMED 9585594 REFERENCE 10 (residues 1 to 3165) AUTHORS Fahim,A.T., Daiger,S.P. and Weleber,R.G. TITLE Nonsyndromic Retinitis Pigmentosa Overview JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K 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 AL450319.4, FJ416331.1 and FM209056.1. Summary: The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]. Transcript Variant: This variant (4) includes an additional in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (4) that 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 :: FM209056.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..3165 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6q12" Protein 1..3165 /product="protein eyes shut homolog isoform 4 precursor" /note="EGF-like-domain, multiple 11; EGF-like-domain, multiple 10; protein spacemaker homolog; epidermal growth factor-like protein 10; epidermal growth factor-like protein 11" /calculated_mol_wt=348477 sig_peptide 1..21 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" /calculated_mol_wt=2340 mat_peptide 22..3165 /product="Protein eyes shut homolog. /id=PRO_0000337014" /note="propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" /calculated_mol_wt=348477 Site 166 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Region 195..>283 /region_name="Plasmod_Pvs28" /note="Plasmodium ookinete surface protein Pvs28; pfam06247" /db_xref="CDD:283826" Site 269 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 272 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 311 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 343 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 506 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Site 566 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Region 681..731 /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(681,684,698) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238011" Region 733..769 /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(733,736,750) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238011" Region 773..806 /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 810..846 /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 890..926 /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(890,893,907) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238011" Region 929..964 /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 966..1002 /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(966,969,983) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238011" Region 1004..1040 /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(1004,1007,1021) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238011" Region 1080..1115 /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 1118..1159 /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 1161..1197 /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(1161,1164,1178) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:238011" Region 1886..2044 /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 2149..2315 /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" Site 2170 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5T1H1.5)" Region 2461..2582 /region_name="Laminin_G_2" /note="Laminin G domain; pfam02210" /db_xref="CDD:280389" Region 2657..2689 /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 2740..2877 /region_name="LamG" /note="Laminin G domain; smart00282" /db_xref="CDD:214598" Region 3007..3138 /region_name="Laminin_G_2" /note="Laminin G domain; pfam02210" /db_xref="CDD:280389" CDS 1..3165 /gene="EYS" /gene_synonym="bA166P24.2; bA307F22.3; bA74E24.1; C6orf178; C6orf179; C6orf180; dJ1018A4.2; dJ22I17.2; dJ303F19.1; EGFL10; EGFL11; RP25; SPAM" /coded_by="NM_001292009.2:540..10037" /note="isoform 4 precursor is encoded by transcript variant 4" /db_xref="CCDS:CCDS78156.1" /db_xref="GeneID:346007" /db_xref="HGNC:HGNC:21555" /db_xref="MIM:612424" ORIGIN 1 mtdksivils lmvfhssfin gktcrrqlve ewhpqpssyv vnwtltenic ldfyrdcwfl 61 gvntkidtsg nqavpqicpl qiqlgdilvi ssepslqfpe inlmnvsets fvgcvqnttt 121 edqllfgcrl kgmhtvnskw lsvgthyfit vmasgpspcp lglrlnvtvk qqfcqeslss 181 efcsghgkcl seawsktysc hcqppfsgky cqeldacsfk pcknngscin krenwdeqay 241 ecvchppftg kncseiigqc qphvcfhgnc snitsnsfic ecdeqfsgpf cevsakpcvs 301 llfwkrgicp nsssaytyec pkgsssqnge tdvsefslvp cqngtdciki sndvmcicsp 361 iftdllcksi qtscesfplr nnatckkcek dypcscisgf tekncekaid hckllsincl 421 neewcfniig rfkyvcipgc tknpcwflkn vylihqhlcy cgvtfhgicq dkgpaqfeyv 481 wqlgfagseg ekcqgviday fflaancted atyvndpedn nsscwfpheg tkeicangcs 541 clseedsqey rylcflrwag nmylenttdd qenecqheav ckdeinrprc scslsyigrl 601 cvvnvdyclg nhsisvhglc lalshncncs glqryernic eidtedcksa sckngttsth 661 lrgyffrkcv pgfkgtqcei didecashpc kngatcidqp gnyfcqcvpp fkvvdgfscl 721 cnpgyvgirc eqdiddciln acehnstckd lhlsyqcvcl sdwegnfceq esneckmnpc 781 knnstctdly ksyrcectsg wtgqncseei necdsdpcmn gglchestip gqfvclcppl 841 ytgqfchqry nlcdllhnpc rnnstclalv danqhcicre efegknceid vkdclflscq 901 dygdcedmvn nfrcicrpgf sgslceiein ecssepcknn gtcvdltnrf fcncepeyhg 961 pfceldvnkc kispcldeen cvyrtdgync lcapgytgin ceinldecls epclhdgvci 1021 dginhytcdc ksgffgthce tnandclsnp clhgrcteli neypcscdad gtstqckiki 1081 ndctsipcmn egfcqksahg ftcicprgyt gayceksidn caepelnsvi clnggicvdg 1141 pghtfdcrcl pgfsgqfcei ninecssspc lhgadcedhi ngyvckcqpg wsghhcenel 1201 ecipnscvhe lcmenepgst clctpgfmtc sigllcgdei rritcltpif qrtdpistqt 1261 ytippsetlv ssfpsikatr ipaimdtypv dqgpkqtgiv khdilpttgl atlristple 1321 syllqelivt relsakhsll ssadvsssrf lnfgirdpaq ivqdktsvsh mpirtsaatl 1381 gfffpdrrar tpfimsslms dfifptqsll fencqtvals atpttsvirs ipgadielnr 1441 qsllsrgfll iaasisatpv vsrgaqedie eysadslisr rehwrllsps mspifpakvi 1501 iskqvtilns salhrfstka fnpseyqait eassnqrltn iksqaadslr elsqtcatcs 1561 mteikssref sdqvlhskqs hfyetfwmns ailaswyalm gaqtitsghs fssateitps 1621 vaftevpslf pskksakrti lsssleesit lssnldvnlc ldktclsivp sqtissdlmn 1681 sdltskmttd elsvsenilk llkirqygit mgptevlnqe slldmekskg shtlfklhps 1741 dssldfelnl qiypdvtlkt yseithandf knnlppltgs vpdfsevttn vafytvsatp 1801 alsiqtsssm svirpdwpyf tdymtslkke vktssewskw elqpsvqyqe fptasrhlpf 1861 trsltlssle silapqrlmi sdfscvryyg dsylefqnva lnpqnnisle fqtfssygll 1921 lyvkqdsnlv dgffiqlfie ngtlkyhfyc pgeakfksin ttvrvdngqk ytllirqeld 1981 pcnaeltilg rntqicesin hvlgkplpks gsvfiggfpd lhgkiqmpvp vknftgciev 2041 ieinnwrsfi pskavknyhi nncrsqgfml sptasfvdas dvtqgvdtmw tsvspsvaap 2101 svcqqdvchn ggtchaifls sgivsfqcdc plhftgrfce kdaglffpsf ngnsylelpf 2161 lkfvlekehn rtvtiyltik tnslngtily sngnncgkqf lhlflvegrp svkygcgnsq 2221 niltvsanys intnaftpit iryttpvgsp gvvcmiemta dgkppvqkkd teishasqay 2281 fesmflghip anvqihkkag pvygfrgcil dlqvnnkeff iidearhgkn ienchvpwca 2341 hhlcrnngtc isdnenlfce cprlysgklc qfascennpc gngatcvpks gtdivclcpy 2401 grsgplctda initqprfsg tdafgytsfl aysrisdisf hyefhlkfql annhsalqnn 2461 lifftgqkgh glngddflav gllngsvvys ynlgsgiasi rseplnlslg vhtvhlgkff 2521 qegwlkvddh knksiiapgr lvglnvfsqf yvggyseytp dllpngadfk ngfqgciftl 2581 qvrtekdghf rglgnpeghp nagrsvgqch aspcslmkcg nggtciesgt svycncttgw 2641 kgsfctetvs tcdpehdpph hcsrgatcis lphgytcfcp lgttgiyceq alilivilek 2701 pkpaerkvkk ealsisdpsf rsnelswmsf asfhvrkkth iqlqfqplaa dgilfyaaqh 2761 lkaqsgdflc islvnssvql rynlgdrtii letlqkvtin gstwhiikag rvgaegyldl 2821 dginvtekas tkmssldtnt dfyiggvssl nlvnpmaien epvgfqgcir qviinnqelq 2881 ltefgakggs nvgdcdgtac gyntcrngge ctvngttfsc rclpdwagnt cnqsvsclnn 2941 lclhqslcip dqsfsysclc tlgwvgryce nktsfstakf mgnsyikyid pnyrmrnlqf 3001 ttislnfstt kteglivwmg iaqneendfl aiglhnqtlk iavnlgeris vpmsynngtf 3061 ccnkwhhvvv iqnqtlikay innslilsed idphknfval nydgicylgg feygrkvniv 3121 tqeifktnfv gkikdvvffq epknielikl egynvydgde qnevt // LOCUS NP_001340729 338 aa linear PRI 13-AUG-2020 DEFINITION zinc finger protein 846 isoform 4 [Homo sapiens]. ACCESSION NP_001340729 XP_016881897 VERSION NP_001340729.1 DBSOURCE REFSEQ: accession NM_001353800.2 KEYWORDS RefSeq. SOURCE Homo 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 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 AC008752.6 and AC008759.9. On Jul 25, 2017 this sequence version replaced XP_016881897.1. Transcript Variant: This variant (4) initiates at an upstream alternate promoter and differs at both the 5' and 3' ends compared to variant 1. The encoded isoform (4) has 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. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.158815.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..338 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.2" Protein 1..338 /product="zinc finger protein 846 isoform 4" /calculated_mol_wt=38587 Region 8..66 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 119..135 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Region <197..276 /region_name="SFP1" /note="Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]; COG5189" /db_xref="CDD:227516" Region 199..219 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(199,202,215,219) /site_type="other" /note="Zn binding site [ion 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" Site order(232,234,236,238..239,242..243,246,260,262,266..267, 270..271,274,288,290,292,294..295,298..299,302) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region <249..327 /region_name="SFP1" /note="Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]; COG5189" /db_xref="CDD:227516" 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" Region 283..303 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(283,286,299,303) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 311..331 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(311,314,327,331) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..338 /gene="ZNF846" /coded_by="NM_001353800.2:309..1325" /note="isoform 4 is encoded by transcript variant 4" /db_xref="GeneID:162993" /db_xref="HGNC:HGNC:27260" ORIGIN 1 mdssqhlvtf edvavdftqe ewtlldqaqr dlyrdvmlen yknliilgse lfkrslmsgl 61 eqmeelrtgv tgvlqeldlq lktkgspllq disaerspng vqlersntae klydsnhsgk 121 vfnehpflmt hmithigekt sednqsgkal rknfphsfyk kshaegkmpk cvkhekafnq 181 fpnltrqnkt htqeklceck dcwrtflnqs slklhirshn gdkhyvckec gkafsnsshl 241 ighgrihsge kpyvckecgk aftqstglkl hirthsgekp ykckecgkaf thssyltdht 301 rihsgkkpyv cmecgkaftr stglilhmri htgekpye // LOCUS NP_001269397 632 aa linear PRI 13-AUG-2020 DEFINITION golgin subfamily A member 8M [Homo sapiens]. ACCESSION NP_001269397 XP_005268343 XP_005276517 VERSION NP_001269397.1 DBSOURCE REFSEQ: accession NM_001282468.2 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 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 AC055876.16, BF087405.1 and BQ004100.1. On or before Sep 12, 2013 this sequence version replaced XP_005268343.1, XP_005276517.1. 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 paralogous 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. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..632 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q13.1" Protein 1..632 /product="golgin subfamily A member 8M" /note="Putative golgin subfamily A member 6-like protein 7" /calculated_mol_wt=71367 Region <175..291 /region_name="DUF342" /note="Protein of unknown function (DUF342); cl19219" /db_xref="CDD:302792" Region 226..622 /region_name="GOLGA2L5" /note="Putative golgin subfamily A member 2-like protein 5; pfam15070" /db_xref="CDD:291729" CDS 1..632 /gene="GOLGA8M" /coded_by="NM_001282468.2:99..1997" /db_xref="CCDS:CCDS61572.1" /db_xref="GeneID:653720" /db_xref="HGNC:HGNC:44404" ORIGIN 1 maeetqhnkl aaakkklkey wqknsprvpa ganrnrktng sipqtatsgg cqppgdsatg 61 fhregptssa tlkdlespcq eravvldsrs veisqlknti kslkqqkkqv ehqleeekka 121 nnkkqkakrv levqlqtlni qkeelntdly hmkrslryfe ekskdlavrl qhslqrkgel 181 esvlsdvmat qkkkanqlss pskagtewkl eqsmreeall kvqltqlkes fqqvqlerde 241 ysehlkgera rwqqrmrkms qeictlkkek qqdmrrvekl erslsklknq maeplppepp 301 avpsevelqh lrkelervag elqaqvknnq risllnqrqe erireqeerl rkqeeriqeq 361 hkslqqlakp qsvfeepnne nkstlqleqq vkelqeklge ehleaasqqn qqltaqlslm 421 alpgeghgge hldsegeeap qpmpsvpedp esreamssfm dhleekadls elvkkqelrf 481 iqywqerchq kihhllsepg grakdaalgg ghhqagaqgg degeaagaaa dgiaaysnyn 541 nghrkflaaa hnsadepgpg apapqelgaa dkhgdlcevs ltssaqgear edplldkpta 601 qpivqdhqeh pglgsnccvp ffcwawlprr rr // LOCUS NP_001278395 549 aa linear PRI 13-AUG-2020 DEFINITION TBC1 domain family member 3E [Homo sapiens]. ACCESSION NP_001278395 XP_006725452 VERSION NP_001278395.1 DBSOURCE REFSEQ: accession NM_001291466.2 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 549) AUTHORS Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J and Eichler EE. CONSRTM 1000 Genomes Project TITLE Diversity of human copy number variation and multicopy genes JOURNAL Science 330 (6004), 641-646 (2010) PUBMED 21030649 REFERENCE 2 (residues 1 to 549) AUTHORS Hodzic D, Kong C, Wainszelbaum MJ, Charron AJ, Su X and Stahl PD. TITLE TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12 JOURNAL Genomics 88 (6), 731-736 (2006) PUBMED 16863688 REFERENCE 3 (residues 1 to 549) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC233968.3. On Apr 16, 2014 this sequence version replaced XP_006725452.1. 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 :: AL136860.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on longest protein ##RefSeq-Attributes-END## 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 3E" /note="TBC1 domain family member-like; TBC1 domain family member 3; Prostate cancer gene 17 protein; Protein TRE17-alpha; Rab GTPase-activating protein PRC17" /calculated_mol_wt=62000 Region 99..312 /region_name="TBC" /note="Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs; smart00164" /db_xref="CDD:214540" CDS 1..549 /gene="TBC1D3E" /gene_synonym="PRC17; TBC1D3; TBC1D3A; TBC1DE3" /coded_by="NM_001291466.2:118..1767" /db_xref="CCDS:CCDS77009.1" /db_xref="GeneID:102723859" /db_xref="HGNC:HGNC:27071" /db_xref="MIM:610808" ORIGIN 1 mdvvevagsw waqerediim kyekghragl pedkgpkpfr synnnvdhlg ivhetelppl 61 tareakqirr eisrkskwvd mlgdwekyks srklidqayk gmpmnirgpm wsvllnteem 121 klknpgryqi mkekgkksse hiqridrdvs gtlrkhiffr drygtkqrel lhillayeey 181 npevgycrdl shiaalflly lpeedafwal vqllaserhs lqgfhspngg tvqglqdqqe 241 hvvatsqpkt mghqdkkdlc gqcsplgcli rilidgislg ltlrlwdvyl vegeqalmpi 301 triafkvqqk rltktsrcgp warfcnrfvd twardedtvl khlrasmkkl trkkgdlppp 361 akpeqgssas rpvpasrggk tlckgdrqap pgpparfprp iwsaspprap rsstpcpgga 421 vredtypvgt qgvpspalaq ggpqgswrfl qwnsmprlpt dldvegpwfr hydfrqscwv 481 raisqedqla pcwqaehpae rvrsafaaps tdsdqgtpfr ardeqqcapt sgpclcglhl 541 essqfppgf // LOCUS NP_072098 194 aa linear PRI 13-AUG-2020 DEFINITION phosducin isoform b [Homo sapiens]. ACCESSION NP_072098 VERSION NP_072098.1 DBSOURCE REFSEQ: accession NM_022576.4 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 194) AUTHORS Piotrowska U, Adler G and Kozicki I. TITLE Phosducin regulates secretory activity in TT line of thyroid parafollicular C cells JOURNAL Horm. Metab. Res. 47 (2), 114-118 (2015) PUBMED 25153685 REMARK GeneRIF: Phosducin regulates secretory activity in TT line of thyroid parafollicular C cells. REFERENCE 2 (residues 1 to 194) AUTHORS Palatini P, Ceolotto G, Ragazzo F, Mos L, Santonastaso M, Zanata G, Saladini F and Casiglia E. CONSRTM HARVEST Study Investigators TITLE Phosducin rs12402521 polymorphism predicts development of hypertension in young subjects with overweight or obesity JOURNAL Nutr Metab Cardiovasc Dis 23 (4), 323-329 (2013) PUBMED 22365573 REMARK GeneRIF: Data suggest that phosducin rs12402521 polymorphism is an important genetic predictor of obesity-related hypertension. REFERENCE 3 (residues 1 to 194) AUTHORS Broeckel U, Stoll M and Hein L. TITLE The identification of phosducin as a novel candidate gene for hypertension and its role in sympathetic activation JOURNAL Curr. Opin. Nephrol. Hypertens. 20 (2), 118-124 (2011) PUBMED 21191291 REMARK GeneRIF: identification of Pdc as a gene for stress-induced hypertension offers new insights into the relationship between sympathetic nervous system activation, blood pressure regulation and genetic factors Review article REFERENCE 4 (residues 1 to 194) AUTHORS Piotrowska U and Adler G. TITLE Phosducin and monomeric beta-actin have common epitope recognized by anti-phosducin antibodies JOURNAL Immunol. Lett. 134 (1), 62-68 (2010) PUBMED 20804785 REMARK GeneRIF: Data suggest that the existence of a common epitope on the molecules of phosducin and beta-actin may reflect a topological similarity of a small region of their surfaces. REFERENCE 5 (residues 1 to 194) AUTHORS Beetz N, Harrison MD, Brede M, Zong X, Urbanski MJ, Sietmann A, Kaufling J, Lorkowski S, Barrot M, Seeliger MW, Vieira-Coelho MA, Hamet P, Gaudet D, Seda O, Tremblay J, Kotchen TA, Kaldunski M, Nusing R, Szabo B, Jacob HJ, Cowley AW Jr, Biel M, Stoll M, Lohse MJ, Broeckel U and Hein L. TITLE Phosducin influences sympathetic activity and prevents stress-induced hypertension in humans and mice JOURNAL J. Clin. Invest. 119 (12), 3597-3612 (2009) PUBMED 19959875 REMARK GeneRIF: Candidate gene-based association studies in 2 different populations revealed several SNPs in the PDC gene to be associated with stress-dependent blood pressure phenotypes. Erratum:[J Clin Invest. 2011 Jan 4;121(1):454. Lorkowski, Stefan [added]] REFERENCE 6 (residues 1 to 194) AUTHORS Hawes BE, Touhara K, Kurose H, Lefkowitz RJ and Inglese J. TITLE Determination of the G beta gamma-binding domain of phosducin. A regulatable modulator of G beta gamma signaling JOURNAL J. Biol. Chem. 269 (47), 29825-29830 (1994) PUBMED 7961975 REFERENCE 7 (residues 1 to 194) AUTHORS Abe T, Kikuchi T and Shinohara T. TITLE The sequence of the human phosducin gene (PDC) and its 5'-flanking region JOURNAL Genomics 19 (2), 369-372 (1994) PUBMED 8188267 REFERENCE 8 (residues 1 to 194) AUTHORS Lee RH, Brown BM and Lolley RN. TITLE Protein kinase A phosphorylates retinal phosducin on serine 73 in situ JOURNAL J. Biol. Chem. 265 (26), 15860-15866 (1990) PUBMED 2394752 REFERENCE 9 (residues 1 to 194) AUTHORS Watanabe Y, Kawasaki K, Miki N and Kuo CH. TITLE Isolation and analysis of the human MEKA gene encoding a retina-specific protein JOURNAL Biochem. Biophys. Res. Commun. 170 (2), 951-956 (1990) PUBMED 2383274 REFERENCE 10 (residues 1 to 194) AUTHORS Abe T, Nakabayashi H, Tamada H, Takagi T, Sakuragi S, Yamaki K and Shinohara T. TITLE Analysis of the human, bovine and rat 33-kDa proteins and cDNA in retina and pineal gland JOURNAL Gene 91 (2), 209-215 (1990) PUBMED 2210381 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF076464.1 and BM674109.1. Summary: This gene encodes a phosphoprotein, which is located in the outer and inner segments of the rod cells in the retina. This protein may participate in the regulation of visual phototransduction or in the integration of photoreceptor metabolism. It modulates the phototransduction cascade by interacting with the beta and gamma subunits of the retinal G-protein transducin. This gene is a potential candidate gene for retinitis pigmentosa and Usher syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (2), also known as PHLOP1, has an alternate 5' sequence, resulting in a downstream AUG start codon, compared to variant 1. 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 :: AF076464.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..194 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q31.1" Protein 1..194 /product="phosducin isoform b" /note="G beta gamma binding protein; phosducin-like orphan protein; 33 kDa phototransducing protein" /calculated_mol_wt=22186 Region 10..173 /region_name="Phd_like_Phd" /note="Phosducin (Phd)-like family, Phd subfamily; Phd is a cytosolic regulator of G protein functions. It specifically binds G protein betagamma (Gbg)-subunits with high affinity, resulting in the solubilization of Gbg from the plasma membrane. This impedes...; cd02987" /db_xref="CDD:239285" CDS 1..194 /gene="PDC" /gene_synonym="MEKA; PHD; PhLOP; PhLP" /coded_by="NM_022576.4:193..777" /note="isoform b is encoded by transcript variant 2" /db_xref="CCDS:CCDS41447.1" /db_xref="GeneID:5132" /db_xref="HGNC:HGNC:8759" /db_xref="MIM:171490" ORIGIN 1 msspqsrngk dskervsrkm siqeyelihk ekedenclrk yrrqcmqdmh qklsfgpryg 61 fvyeletgkq fletiekelk ittivvhiye dgikgcdaln ssltclaaey pivkfckika 121 sntgagdrfs ldvlptlliy kggelisnfi svaeqfaeef fagdvesfln eygllperev 181 hvlehtkiee edve // LOCUS NP_001131143 542 aa linear PRI 13-AUG-2020 DEFINITION POTE ankyrin domain family member C isoform 1 [Homo sapiens]. ACCESSION NP_001131143 XP_496269 VERSION NP_001131143.1 DBSOURCE REFSEQ: accession NM_001137671.2 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 542) AUTHORS Bera TK, Zimonjic DB, Popescu NC, Sathyanarayana BK, Kumar V, Lee B and Pastan I. TITLE POTE, a highly homologous gene family located on numerous chromosomes and expressed in prostate, ovary, testis, placenta, and prostate cancer JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (26), 16975-16980 (2002) PUBMED 12475935 REMARK Erratum:[Proc Natl Acad Sci U S A. 2003 Feb 4;100(3):1462] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AP006261.1. On Nov 14, 2008 this sequence version replaced XP_496269.2. Transcript Variant: This variant (1) encodes the functional 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. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..542 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="18" /map="18p11.21" Protein 1..542 /product="POTE ankyrin domain family member C isoform 1" /note="cancer/testis antigen family 104, member 6; ANKRD26-like family B member 2; prostate, ovary, testis-expressed protein on chromosome 18" /calculated_mol_wt=61057 Region 138..171 /region_name="ANK 1" /note="propagated from UniProtKB/Swiss-Prot (B2RU33.2)" Region 143..193 /region_name="Ank_4" /note="Ankyrin repeats (many copies); pfam13637" /db_xref="CDD:290365" Region 167..292 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 172..201 /region_name="ANK 2" /note="propagated from UniProtKB/Swiss-Prot (B2RU33.2)" Region 174..203 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 177..269 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 205..236 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 205..234 /region_name="ANK 3" /note="propagated from UniProtKB/Swiss-Prot (B2RU33.2)" Region 233..357 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Site order(238,240,244..245,248..250,252..253,257,260,269,271, 273,277..278,281..283,285..286,290,293,302,304,306, 310..311,314..316,318..319,323,326,335) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 238..269 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 238..267 /region_name="ANK 4" /note="propagated from UniProtKB/Swiss-Prot (B2RU33.2)" Region 243..335 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 271..302 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 271..300 /region_name="ANK 5" /note="propagated from UniProtKB/Swiss-Prot (B2RU33.2)" Region 304..335 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 304..333 /region_name="ANK 6" /note="propagated from UniProtKB/Swiss-Prot (B2RU33.2)" Region 337..373 /region_name="ANK 7" /note="propagated from UniProtKB/Swiss-Prot (B2RU33.2)" CDS 1..542 /gene="POTEC" /gene_synonym="A26B2; CT104.6; POTE-18; POTE18" /coded_by="NM_001137671.2:455..2083" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS45835.1" /db_xref="GeneID:388468" /db_xref="HGNC:HGNC:33894" ORIGIN 1 mvtevcsmpa asavkkpfdl rskmgkwfhh rfpcckgsgk snmgtsgdhd dsfmkmlrsk 61 mgkcchhcfp ccrgsgtsnv gtsgdhdnsf mktlrskmgk wcchcfpccr gsgksnvgaw 121 gdyddsafme pryhvrredl dklhraawwg kvprkdlivm lrdtdmnkrd kqkrtalhla 181 sangnsevvq llldrrcqln vldnkkrtal ikavqcqede cvlmllehga dqnipdeygn 241 ttlhyavhne dklmakalll ygadiesknk cgltplllgv heqkqqvvkf likkkanlna 301 ldrygrtali lavccgsasi vnllleqnvd vssqdlsgqt areyavsshh hvicellsdy 361 kekqmlkiss ensnpeqdlk ltseeesqrl kvsensqpek msqepeinkd cdreveeeik 421 khgsnpvglp enltngasag ngddglipqr rsrkpenqqf pdteneeyhs deqndtrkql 481 seeqntgisq deiltnkqkq ievaekkmns elslshkkee dllrensmlq eeiamlisgd 541 wn // LOCUS NP_001229851 288 aa linear PRI 13-AUG-2020 DEFINITION cancer/testis antigen 47A [Homo sapiens]. ACCESSION NP_001229851 XP_003118880 VERSION NP_001229851.1 DBSOURCE REFSEQ: accession NM_001242922.2 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 288) AUTHORS Chen YT, Iseli C, Venditti CA, Old LJ, Simpson AJ and Jongeneel CV. TITLE Identification of a new cancer/testis gene family, CT47, among expressed multicopy genes on the human X chromosome JOURNAL Genes Chromosomes Cancer 45 (4), 392-400 (2006) PUBMED 16382448 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL670379.17 and AC008162.3. On Jul 4, 2011 this sequence version replaced XP_003118880.1. 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 :: AI184725.1, AA931771.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on computational evidence ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..288 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq24" Protein 1..288 /product="cancer/testis antigen 47A" /note="cancer/testis antigen 47A family member; cancer/testis CT47 family, member 12" /calculated_mol_wt=29969 Region 1..263 /region_name="CT47" /note="Cancer/testis gene family 47; pfam15623" /db_xref="CDD:317935" CDS 1..288 /gene="CT47A12" /gene_synonym="CT47; CT47.12" /coded_by="NM_001242922.2:260..1126" /db_xref="CCDS:CCDS56607.1" /db_xref="GeneID:100507170" /db_xref="HGNC:HGNC:33292" ORIGIN 1 msatgdrhpt qgdqeapvsq egaqaeaaga gnqeggdsgp dssdvvpaae vvgvagpveg 61 lgeeegeqaa glaavprggs aeedsdigpa teeeeeeegn eaanfdlavv arrypasgih 121 fvlldmvhsl lhrlshndhi lienrqlsrl mvgphaaarn lwgnlpplll pqrlgagaaa 181 rageglgliq eaasvpepav padlaemare paeeaaeekl seeateepda eepateepta 241 qeatapeevt ksqpekwdee aqdaageeek eqekekdaen kvknskgt // LOCUS NP_001166160 577 aa linear PRI 13-AUG-2020 DEFINITION zinc finger protein 573 isoform 2 [Homo sapiens]. ACCESSION NP_001166160 VERSION NP_001166160.1 DBSOURCE REFSEQ: accession NM_001172689.2 KEYWORDS RefSeq. SOURCE Homo 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 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 REFERENCE 2 (residues 1 to 577) 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 3 (residues 1 to 577) AUTHORS Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S and Malek J. CONSRTM MGC Project Team TITLE The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) JOURNAL Genome Res. 14 (10B), 2121-2127 (2004) PUBMED 15489334 REMARK Erratum:[Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to Morin, Ryan]] REFERENCE 4 (residues 1 to 577) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA778380.1, AK074539.1, BC042170.2, AC016582.9 and AK055483.1. Transcript Variant: This variant (2) lacks three alternate exons, includes an additional exon, and uses an upstream start codon, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1. Both variants 2 and 5 encode the same isoform. ##Evidence-Data-START## Transcript exon combination :: AK074539.1, DA569591.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..577 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.12" Protein 1..577 /product="zinc finger protein 573 isoform 2" /calculated_mol_wt=67651 Region 48..68 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(48,51,64,68) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 76..96 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(76,79,92,96) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" 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" 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) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 156..540 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 160..180 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(160,163,176,180) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 172..197 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 188..204 /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" Site order(300,303,316,320) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 313..336 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 328..348 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(328,331,344,348) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 356..376 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(356,359,372,376) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(361,363,365,367..368,371..372,375,389,391,395..396, 399..400,403,417,419,421,423..424,427..428,431) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 384..404 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(384,387,400,404) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 396..420 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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" Region 440..460 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(440,443,456,460) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 468..488 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(468,471,484,488) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 496..516 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(496,499,512,516) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(501,503,505,507..508,511..512,515,529,531,535..536, 539..540,543,557,559,561,563..564,567..568,571) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 508..533 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 524..544 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(524,527,540,544) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 536..561 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 552..572 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(552,555,568,572) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..577 /gene="ZNF573" /coded_by="NM_001172689.2:521..2254" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS54260.1" /db_xref="GeneID:126231" /db_xref="HGNC:HGNC:26420" ORIGIN 1 milreetqft dldlqceiis yievptyetd isstqlqsiy kreklyeckk cqkkfssgyq 61 lilhhrfhvi erpyeckecg knfrsgyqlt lhqrfhtgek pyectecgkn frsgyqltvh 121 qrfhtgekty ecrqcgkafi yashivqher ihtggkpyec qecgrafsqg ghlrihqrvh 181 tgekpykcke cgktfsrrsn lvehgqfhtd ekpyicekcg kafrrghqlt vhqrvhtgkk 241 pyeckecgkg yttasyfllh qrihkggkpy eckeckktft lyrnltrhqn ihtgeklfec 301 kqcgktyttg sklfqhqkth tgekpyecke cgkafslygy lkqhqkihtg mkhfeckeck 361 ktftlyrnlt rhqnihtgkk lfecqecgka ystgsnliqh rkthtgekpy kckecgktfs 421 lhgylnqhqk ihtgmkpyec kvcrktftfy rnltlhqsih tdekpfecke cgktfrrssh 481 ltahqsihad kkpyeckecg kafkmygylt qhqkihtggk pyeckecgka fsrasnlvqh 541 erihtgekpy vckqcgktfr ygsalkahqr ihrsikv // LOCUS NP_001337142 80 aa linear PRI 13-AUG-2020 DEFINITION thymosin beta-15B isoform 2 [Homo sapiens]. ACCESSION NP_001337142 VERSION NP_001337142.1 DBSOURCE REFSEQ: accession NM_001350213.2 KEYWORDS RefSeq. SOURCE Homo 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 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 80) 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 80) 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 80) 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 AC234782.5. Transcript Variant: This variant (4) represents use of an alternate promoter and differs in both the 5' and 3' exon structure compared to variant 1. The encoded isoform (2) has a longer, 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 :: SRR1803612.148861.1, SRR1803614.99855.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..80 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq22.2" Protein 1..80 /product="thymosin beta-15B isoform 2" /note="Thymosin beta-15A; NB thymosin beta; Thymosin-like protein 8" /calculated_mol_wt=8948 Region 3..>33 /region_name="Thymosin" /note="Thymosin beta-4 family; pfam01290" /db_xref="CDD:307454" CDS 1..80 /gene="TMSB15B" /gene_synonym="Tbeta15b; TMSB15A; TMSL8; TMSNB" /coded_by="NM_001350213.2:859..1101" /note="isoform 2 is encoded by transcript variant 4" /db_xref="GeneID:286527" /db_xref="HGNC:HGNC:28612" /db_xref="MIM:301011" ORIGIN 1 msdkpdlsev ekfdrsklkk tnteekntlp skekgvslcr qagvqrhdfg slqtslpefk 61 qfsclslpss wdlrhitkpg // LOCUS NP_001166162 663 aa linear PRI 13-AUG-2020 DEFINITION zinc finger protein 573 isoform 4 [Homo sapiens]. ACCESSION NP_001166162 VERSION NP_001166162.1 DBSOURCE REFSEQ: accession NM_001172691.2 KEYWORDS RefSeq. SOURCE Homo 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 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 REFERENCE 2 (residues 1 to 663) 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 3 (residues 1 to 663) AUTHORS Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S and Malek J. CONSRTM MGC Project Team TITLE The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) JOURNAL Genome Res. 14 (10B), 2121-2127 (2004) PUBMED 15489334 REMARK Erratum:[Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to Morin, Ryan]] REFERENCE 4 (residues 1 to 663) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA778380.1, BG572864.1, BC042170.2 and AK055483.1. Transcript Variant: This variant (4) lacks three alternate exons, uses an alternate splice site, and uses an upstream start codon, compared to variant 1. The resulting isoform (4) has a longer and distinct N-terminus, compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: BG572864.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..663 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.12" Protein 1..663 /product="zinc finger protein 573 isoform 4" /calculated_mol_wt=77775 Region 26..87 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 26..65 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" Region 134..154 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(134,137,150,154) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 162..182 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(162,165,178,182) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 190..210 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(190,193,206,210) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 218..238 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(218,221,234,238) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(223,225,227,229..230,233..234,237,251,253,257..258, 261..262,265,279,281,283,285..286,289..290) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 242..626 /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" Region 258..283 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 274..290 /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" Site order(302,305,318,322) /site_type="other" /note="Zn binding site [ion binding]" /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" Site order(386,389,402,406) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 399..422 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 414..434 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(414,417,430,434) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 442..462 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(442,445,458,462) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(447,449,451,453..454,457..458,461,475,477,481..482, 485..486,489,503,505,507,509..510,513..514,517) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 470..490 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(470,473,486,490) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 482..506 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 498..518 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(498,501,514,518) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 510..534 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 526..546 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(526,529,542,546) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 554..574 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(554,557,570,574) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 582..602 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(582,585,598,602) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(587,589,591,593..594,597..598,601,615,617,621..622, 625..626,629,643,645,647,649..650,653..654,657) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 594..619 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 610..630 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(610,613,626,630) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 622..647 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 638..658 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(638,641,654,658) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..663 /gene="ZNF573" /coded_by="NM_001172691.2:66..2057" /note="isoform 4 is encoded by transcript variant 4" /db_xref="GeneID:126231" /db_xref="HGNC:HGNC:26420" ORIGIN 1 mfpvlephqv glirsynskt mtcelvtfrd vaidfsrqew eyldpnqrdl yrdvmlenyr 61 nlvslgghsi skpvvvdlle rgkepwmilr eetqftdldl qceiisyiev ptyetdisst 121 qlqsiykrek lyeckkcqkk fssgyqlilh hrfhvierpy eckecgknfr sgyqltlhqr 181 fhtgekpyec tecgknfrsg yqltvhqrfh tgektyecrq cgkafiyash ivqherihtg 241 gkpyecqecg rafsqgghlr ihqrvhtgek pykckecgkt fsrrsnlveh gqfhtdekpy 301 icekcgkafr rghqltvhqr vhtgkkpyec kecgkgytta syfllhqrih kggkpyecke 361 ckktftlyrn ltrhqnihtg eklfeckqcg ktyttgsklf qhqkthtgek pyeckecgka 421 fslygylkqh qkihtgmkhf eckeckktft lyrnltrhqn ihtgkklfec qecgkaystg 481 snliqhrkth tgekpykcke cgktfslhgy lnqhqkihtg mkpyeckvcr ktftfyrnlt 541 lhqsihtdek pfeckecgkt frrsshltah qsihadkkpy eckecgkafk mygyltqhqk 601 ihtggkpyec kecgkafsra snlvqherih tgekpyvckq cgktfrygsa lkahqrihrs 661 ikv // LOCUS NP_116754 1048 aa linear PRI 13-AUG-2020 DEFINITION protocadherin-11 Y-linked isoform b precursor [Homo sapiens]. ACCESSION NP_116754 VERSION NP_116754.1 DBSOURCE REFSEQ: accession NM_032972.3 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 1048) AUTHORS Anilkumar TR, Devi AN, Pillai SM, Jayakrishnan K, Oommen OV and Kumar PG. TITLE Expression of protocadherin 11Yb (PCDH11Yb) in seminal germ cells is correlated with fertility status in men JOURNAL Reprod. Fertil. Dev. 29 (11), 2100-2111 (2017) PUBMED 28241900 REMARK GeneRIF: In the present study, PCDH11Yb, but not PCDH11Ya or PCDH11Yc, was expressed in germ cells isolated from the semen of all 13 men with proven fertility. However, in several subjects from various infertility classes, there was complete absence or a significant reduction in the expression of PCDH11Yb. In conclusion, expression levels of PCDH11Yb in germ cells in the semen were correlated with the fertility status of men. REFERENCE 2 (residues 1 to 1048) AUTHORS Priddle TH and Crow TJ. TITLE Protocadherin 11X/Y a human-specific gene pair: an immunohistochemical survey of fetal and adult brains JOURNAL Cereb. Cortex 23 (8), 1933-1941 (2013) PUBMED 22744706 REMARK GeneRIF: PCDH11Y expression was detected in the fetal neocortex, ganglionic eminences, cerebellum, and inferior olive. In the adult brain, the cerebral cortex, hippocampal formation, and cerebellum and brain stem were immunoreactive. REFERENCE 3 (residues 1 to 1048) AUTHORS Priddle TH and Crow TJ. TITLE The protocadherin 11X/Y (PCDH11X/Y) gene pair as determinant of cerebral asymmetry in modern Homo sapiens JOURNAL Ann. N. Y. Acad. Sci. 1288, 36-47 (2013) PUBMED 23600975 REMARK GeneRIF: the PCDH11X/Y gene pair determines cerebral asymmetry by initiating the right shift in Homo sapiens REFERENCE 4 (residues 1 to 1048) AUTHORS Ahn K, Huh JW, Kim DS, Ha HS, Kim YJ, Lee JR and Kim HS. TITLE Quantitative analysis of alternative transcripts of human PCDH11X/Y genes JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (3), 736-744 (2010) PUBMED 19859901 REMARK GeneRIF: The present article investigated the patterns of alternative splicing and expression of the PCDH11X/Y genes. REFERENCE 5 (residues 1 to 1048) AUTHORS Blanco-Arias P, Sargent CA and Affara NA. TITLE Protocadherin X (PCDHX) and Y (PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains JOURNAL Mamm. Genome 15 (1), 41-52 (2004) PUBMED 14727141 REFERENCE 6 (residues 1 to 1048) 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 1048) AUTHORS Chen MW, Vacherot F, De La Taille A, Gil-Diez-De-Medina S, Shen R, Friedman RA, Burchardt M, Chopin DK and Buttyan R. TITLE The emergence of protocadherin-PC expression during the acquisition of apoptosis-resistance by prostate cancer cells JOURNAL Oncogene 21 (51), 7861-7871 (2002) PUBMED 12420223 REMARK GeneRIF: A 4.8 kb cDNA was cloned from TPA-resistance LNCaP prostate cancer cells. It is an unusual protocadherin family gene with 2 large overlapping ORFs encoding homologous polypeptides, one with and one without a signal sequence. [protocadherin-PC] REFERENCE 8 (residues 1 to 1048) AUTHORS Blanco P, Sargent CA, Boucher CA, Mitchell M and Affara NA. TITLE Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain JOURNAL Mamm. Genome 11 (10), 906-914 (2000) PUBMED 11003707 REFERENCE 9 (residues 1 to 1048) 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 10 (residues 1 to 1048) 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 AC010722.2, AF332216.1 and AJ276803.1. Summary: This gene belongs to the protocadherin family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing seven cadherin repeats, a transmembrane domain, and a cytoplasmic tail that differs from those of the classical cadherins. This gene is located on the Y chromosome in a block of X/Y homology and is very closely related to its paralog on the X chromosome. The protein is thought to play a role in cell-cell recognition during development of the central nervous system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. Transcript Variant: This variant (b, also known as Ty4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant a. The encoded 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 :: AF332216.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1048 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="Y" /map="Yp11.2" Protein 1..1048 /product="protocadherin-11 Y-linked isoform b precursor" /note="protocadherin 22; protocadherin-PC; protocadherin prostate cancer; protocadherin on the Y chromosome" /calculated_mol_wt=112915 sig_peptide 1..28 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" /calculated_mol_wt=3023 Site 59 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" Region 60..134 /region_name="E_set" /note="Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus; cl09101" /db_xref="CDD:298831" Site 80 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" Site 86 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" Region 175..277 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(182..183,240,242,273,275..276) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 285..383 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(292..293,348,350,379,381..382) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Site 376 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" Region 416..496 /region_name="CA" /note="Cadherin repeats; smart00112" /db_xref="CDD:214520" Region 504..598 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(509..510,561,563,594,596..597) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Site 585 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" Region 606..701 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(613..614,664,666,697,699..700) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 713..804 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site 805 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" Region 807..1008 /region_name="Protocadherin" /note="Protocadherin; pfam08374" /db_xref="CDD:285562" Site 845..865 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" CDS 1..1048 /gene="PCDH11Y" /gene_synonym="PCDH-PC; PCDH22; PCDHX; PCDHY" /coded_by="NM_032972.3:737..3883" /note="isoform b precursor is encoded by transcript variant b" /db_xref="CCDS:CCDS14777.1" /db_xref="GeneID:83259" /db_xref="HGNC:HGNC:15813" /db_xref="MIM:400022" ORIGIN 1 mfrvgfliis sssslsplll vsvvrvnttn chkcllsgty ifavllvcvv fhsgaqekny 61 tireeipenv lignllkdln lslipnkslt ttmqfklvyk tgdvplirie edtgeifttg 121 aridreklca giprdehcfy evevailpde ifrlvkirfl iedindnapl fpatvinisi 181 pensainsky tlpaavdpdv gingvqnyel iksqnifgld vietpegdkm pqlivqkeld 241 reekdtyvmk vkvedggfpq rsstailqvs vtdtndnhpv fketeievsi penapvgtsv 301 tqlhatdadi genakihfsf snlvsniarr lfhlnattgl itikepldre etpnhkllvl 361 asdgglmpar amvlvnvtdv ndnvpsidir yivnpvndtv vlseniplnt kialitvtdk 421 dadhngrvtc ftdheipfrl rpvfsnqfll enaayldyes tkeyaiklla adagkpplnq 481 samlfikvkd endnapvftq sfvtvsipen nspgiqlmkv satdadsgpn aeinyllgpd 541 appefsldrr tgmltvvkkl drekedkylf tilakdngvp pltsnvtvfv siidqndnsp 601 vfthneykfy vpenlprhgt vglitvtdpd ygdnsavtls ildenddfti dsqtgvirpn 661 isfdrekqes ytfyvkaedg grvsrsssak vtinvvdvnd nkpvfivppy nysyelvlps 721 tnpgtvvfqv iavdndtgmn aevrysivgg ntrdlfaidq etgnitlmek cdvtdlglhr 781 vlvkandlgq pdslfsvviv nlfvnesvtn atlinelvrk sieapvtpnt eiadvsspts 841 dyvkilvaav agtitvvvvi fitavvrcrq aphlkaaqkn mqnsewatpn penrqmimmk 901 kkkkkkkhsp knlllnvvti eetkaddvds dgnrvtldlp idleeqtmgk ynwvttpttf 961 kpdspdlarh yksaspqpaf qiqpetplnl khhiiqelpl dntfvacdsi sncsssssdp 1021 ysvsdcgypv ttfevpvsvh trptdsrt // LOCUS NP_001265723 375 aa linear PRI 13-AUG-2020 DEFINITION neuropeptide Y receptor type 4 [Homo sapiens]. ACCESSION NP_001265723 XP_003960519 VERSION NP_001265723.1 DBSOURCE REFSEQ: accession NM_001278794.2 KEYWORDS RefSeq. SOURCE Homo 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 Shebanits K, Andersson-Assarsson JC, Larsson I, Carlsson LMS, Feuk L and Larhammar D. TITLE Copy number of pancreatic polypeptide receptor gene NPY4R correlates with body mass index and waist circumference JOURNAL PLoS ONE 13 (4), e0194668 (2018) PUBMED 29621259 REMARK GeneRIF: Our results suggest that NPY4R genetic variation influences body weight in women, but the exact role of this receptor appears to be more complex than previously proposed. Publication Status: Online-Only REFERENCE 2 (residues 1 to 375) AUTHORS Wanka L, Babilon S, Burkert K, Morl K, Gurevich VV and Beck-Sickinger AG. TITLE C-terminal motif of human neuropeptide Y4 receptor determines internalization and arrestin recruitment JOURNAL Cell. Signal. 29, 233-239 (2017) PUBMED 27818291 REMARK GeneRIF: the internalization motif for the human neuropeptide Y4 receptor, which regulates arrestin-3 recruitment and receptor endocytosis, was identified. REFERENCE 3 (residues 1 to 375) AUTHORS Aerts E, Beckers S, Zegers D, Van Hoorenbeeck K, Massa G, Verrijken A, Verhulst SL, Van Gaal LF and Van Hul W. TITLE CNV analysis and mutation screening indicate an important role for the NPY4R gene in human obesity JOURNAL Obesity (Silver Spring) 24 (4), 970-976 (2016) PUBMED 26921218 REMARK GeneRIF: A copy number variation (CNV) analysis demonstrated a significantly higher frequency of NPY4R containing 10q11.22 CNV loss in the patient population, while CNV gain in this region was more prevalent in the control population. Mutation analysis resulted in the identification of 15 rare non-synonymous heterozygous variants. Two variants in the patient population demonstrated receptor dysfunction and a pathogenic effect. REFERENCE 4 (residues 1 to 375) AUTHORS Wang Z, Ma B, Li H, Xiao X, Zhou W, Liu F, Zhang B, Zhu M, Yang Q, Zeng Y, Sun Y, Sun S, Wang Y, Zhang Y, Weng H, Chen L, Ye M, An X and Liu J. TITLE Protein 4.1N acts as a potential tumor suppressor linking PP1 to JNK-c-Jun pathway regulation in NSCLC JOURNAL Oncotarget 7 (1), 509-523 (2016) PUBMED 26575790 REMARK GeneRIF: Data suggest that repression of JNK-c-Jun signaling through pancreatic polypeptide receptor 1 (PP1) is one of the key anti-tumor mechanisms of neuronal membrane cytoskeletal protein 4.1 (4.1N). Erratum:[Oncotarget. 2019 Oct 22;10(58):6285. PMID: 31692885] REFERENCE 5 (residues 1 to 375) AUTHORS Aragon F, Karaca M, Novials A, Maldonado R, Maechler P and Rubi B. TITLE Pancreatic polypeptide regulates glucagon release through PPYR1 receptors expressed in mouse and human alpha-cells JOURNAL Biochim. Biophys. Acta 1850 (2), 343-351 (2015) PUBMED 25445712 REMARK GeneRIF: These data demonstrate glucose-regulated secretion of PP and its effects on glucagon release through PPYR1 receptors expressed by alpha-cells. REFERENCE 6 (residues 1 to 375) AUTHORS Lutz CM, Richards JE, Scott KL, Sinha S, Yang-Feng TL, Frankel WN and Thompson DA. TITLE Neuropeptide Y receptor genes mapped in human and mouse: receptors with high affinity for pancreatic polypeptide are not clustered with receptors specific for neuropeptide Y and peptide YY JOURNAL Genomics 46 (2), 287-290 (1997) PUBMED 9417917 REFERENCE 7 (residues 1 to 375) AUTHORS Yan H, Yang J, Marasco J, Yamaguchi K, Brenner S, Collins F and Karbon W. TITLE Cloning and functional expression of cDNAs encoding human and rat pancreatic polypeptide receptors JOURNAL Proc. Natl. Acad. Sci. U.S.A. 93 (10), 4661-4665 (1996) PUBMED 8643460 REFERENCE 8 (residues 1 to 375) AUTHORS Lundell I, Blomqvist AG, Berglund MM, Schober DA, Johnson D, Statnick MA, Gadski RA, Gehlert DR and Larhammar D. TITLE Cloning of a human receptor of the NPY receptor family with high affinity for pancreatic polypeptide and peptide YY JOURNAL J. Biol. Chem. 270 (49), 29123-29128 (1995) PUBMED 7493937 REFERENCE 9 (residues 1 to 375) AUTHORS Bard JA, Walker MW, Branchek TA and Weinshank RL. TITLE Cloning and functional expression of a human Y4 subtype receptor for pancreatic polypeptide, neuropeptide Y, and peptide YY JOURNAL J. Biol. Chem. 270 (45), 26762-26765 (1995) PUBMED 7592911 REFERENCE 10 (residues 1 to 375) 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 AC244230.3. On Jul 17, 2013 this sequence version replaced XP_003960519.1. 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 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 :: AY649986.1, SRR7410570.440872.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..375 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10q11.22" Protein 1..375 /product="neuropeptide Y receptor type 4" /note="pancreatic polypeptide receptor 1" /calculated_mol_wt=42011 Region 58..322 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" CDS 1..375 /gene="NPY4R" /gene_synonym="NPY4-R; PP1; PPYR1; Y4" /coded_by="NM_001278794.2:341..1468" /db_xref="CCDS:CCDS73100.1" /db_xref="GeneID:5540" /db_xref="HGNC:HGNC:9329" /db_xref="MIM:601790" ORIGIN 1 mntshllall lpkspqgenr skplgtpynf sehcqdsvdv mvfivtsysi etvvgvlgnl 61 clmcvtvrqk ekanvtnlli anlafsdflm cllcqpltav ytimdywifg etlckmsafi 121 qcmsvtvsil slvlvalerh qliinptgwk psisqaylgi vliwviacvl slpflansil 181 envfhknhsk alefladkvv cteswplahh rtiyttflll fqyclplgfi lvcyariyrc 241 lqrqgrvfhk gtyslraghm kqvnvvlvvm vvafavlwlp lhvfnsledw hheaipichg 301 nliflvchll amastcvnpf iygflntnfk keikalvltc qqsapleese hlplstvhte 361 vskgslrlsg rsnpi // LOCUS NP_001337907 1134 aa linear PRI 13-AUG-2020 DEFINITION putative spermatogenesis-associated protein 31C2 isoform 1 [Homo sapiens]. ACCESSION NP_001337907 VERSION NP_001337907.1 DBSOURCE REFSEQ: accession NM_001350978.2 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 1134) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DB076576.1, AL353726.22 and AL080179.1. 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 :: DB076576.1, DC402929.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1134 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q22.1" Protein 1..1134 /product="putative spermatogenesis-associated protein 31C2 isoform 1" /note="family with sequence similarity 75, member C2; spermatogenesis-associated protein 31C2; putative spermatogenesis-associated protein 31C2" /calculated_mol_wt=124327 Site 23..43 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (B4DYI2.2)" Region 83..163 /region_name="DUF4599" /note="Domain of unknown function (DUF4599); pfam15371" /db_xref="CDD:317738" Region <122..365 /region_name="Atrophin-1" /note="Atrophin-1 family; cl26464" /db_xref="CDD:331285" Region 311..600 /region_name="FAM75" /note="FAM75 family; pfam14650" /db_xref="CDD:317096" CDS 1..1134 /gene="SPATA31C2" /gene_synonym="FAM75C2" /coded_by="NM_001350978.2:36..3440" /note="isoform 1 is encoded by transcript variant 1" /db_xref="GeneID:645961" /db_xref="HGNC:HGNC:24508" ORIGIN 1 menlpfplkl lsasslntps stpwvldifl tlvfalgfff lllpyfsylr cdnppspspr 61 krkrhlvsqr pagrrgrprg rmknhslrac recprgleet wdllsqlqsl lgphlekgdf 121 gqlsgpdppg evgkrtpdga srsshepted aapivsplas pdprtkhpqd lastpppgpm 181 ttsvsslsas qppepsllle hpspeppalf phpprtpdpl acsppppkgf tppplrdstl 241 ltpshcdsva lpldtvpqsl spredlaasv pgisglggsn sqvsalswsq ettktwcvfn 301 ssvqqdhlsr qrdttmspll fqaqplshle pesqpfisst pqfwptpmaq aeaqahlqss 361 fpvlspafls pmkntgvacp asqnkvqals lpetqhperp llkkqleggl alpsrvqksq 421 dvfsvstpnl pqerltsilp enfpvspelw rqleqhmgqr griqesldlm qlqdelpgts 481 qakgkprpwq sststgessk eaqtvkfqle rdpcphlgqi lgetpqnlsr gmesfpgkvl 541 gatseesern lrkplrsdsg sdllrrtern hienilkahm srklgqtneg lipvsvrrsw 601 lavnqafpvs nthvktsnla apksrkacvn taqvlsflep ctqqvlgahi vrfwakhrwg 661 lplrvlkpiq cfqlekvssl sliqlagpss dtcesgagsk vevatflgep pmaslrkqvl 721 tkpsvhmper lqasspackq fqraprgips sndhgslkap tagqegrwps kpltysltgs 781 tqqsrslgaq ssragetrea vpqptvplgt cmranlqats edvrgfkapg askssllprm 841 svsqdprklc lmeeavsefe pgkatksetq pqvsatvvll pdgqasvvph asenlasqvp 901 qghlqsmptg nmqasqelcd lmsarrsnmg hkeprnpncq gscksqspmf ppthkrensr 961 kpnlekheem fqglrtpqlt pgrktedtrq negvqllpsk kqppsishfg enikqffqti 1021 fskkerkpap vtaesqktvk nrscvygssa eaerlmtavg qileenmslc harhaskvnq 1081 qrqqfqapvc gfpcnhrhpf ysehsrmlsy aassqqatlk nqsrpnrdrq irdq // LOCUS NP_001308132 63 aa linear PRI 13-AUG-2020 DEFINITION cytochrome c oxidase assembly factor 1 homolog isoform c [Homo sapiens]. ACCESSION NP_001308132 VERSION NP_001308132.1 DBSOURCE REFSEQ: accession NM_001321203.2 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 63) 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 3 (residues 1 to 63) 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 BP377872.1, DA107764.1 and AC005189.2. Transcript Variant: This variant (9), as well as variants 8, 10, and 11, 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. ##Evidence-Data-START## Transcript exon combination :: DA107764.1, DA044704.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..63 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7p13" Protein 1..63 /product="cytochrome c oxidase assembly factor 1 homolog isoform c" /note="cytochrome c oxidase assembly protein 1 homolog; mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDa" /calculated_mol_wt=6960 CDS 1..63 /gene="COA1" /gene_synonym="C7orf44; MITRAC15" /coded_by="NM_001321203.2:134..325" /note="isoform c is encoded by transcript variant 9" /db_xref="CCDS:CCDS83177.1" /db_xref="GeneID:55744" /db_xref="HGNC:HGNC:21868" /db_xref="MIM:614769" ORIGIN 1 mmwqkyagsr rsmplgaril fhgvfyaggf aivyyliqsk ypasrlrpdl llacscssir 61 gnt // LOCUS NP_689573 607 aa linear PRI 13-AUG-2020 DEFINITION zinc finger protein 573 isoform 1 [Homo sapiens]. ACCESSION NP_689573 VERSION NP_689573.3 DBSOURCE REFSEQ: accession NM_152360.4 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 607) 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 REFERENCE 2 (residues 1 to 607) 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 3 (residues 1 to 607) AUTHORS Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S and Malek J. CONSRTM MGC Project Team TITLE The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) JOURNAL Genome Res. 14 (10B), 2121-2127 (2004) PUBMED 15489334 REMARK Erratum:[Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to Morin, Ryan]] REFERENCE 4 (residues 1 to 607) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA778380.1, BC064962.1 and AK055483.1. On Feb 25, 2010 this sequence version replaced NP_689573.2. Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1. ##Evidence-Data-START## Transcript exon combination :: BC064962.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..607 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.12" Protein 1..607 /product="zinc finger protein 573 isoform 1" /calculated_mol_wt=70712 Region 6..>34 /region_name="GVQW" /note="Putative domain of unknown function; pfam13900" /db_xref="CDD:290611" Region 78..98 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(78,81,94,98) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 106..126 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(106,109,122,126) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 134..154 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(134,137,150,154) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 162..182 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(162,165,178,182) /site_type="other" /note="Zn binding site [ion binding]" /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) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 186..570 /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" Site order(190,193,206,210) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 202..227 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 218..234 /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" Site order(246,249,262,266) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 274..294 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(274,277,290,294) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 302..322 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(302,305,318,322) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(307,309,311,313..314,317..318,321,335,337,341..342, 345..346,349,363,365,367,369..370,373..374,377) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /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 343..366 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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" Region 386..406 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(386,389,402,406) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(391,393,395,397..398,401..402,405,419,421,425..426, 429..430,433,447,449,451,453..454,457..458,461) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 414..434 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(414,417,430,434) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 426..450 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 442..462 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(442,445,458,462) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 470..490 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(470,473,486,490) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 498..518 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(498,501,514,518) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 526..546 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(526,529,542,546) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(531,533,535,537..538,541..542,545,559,561,565..566, 569..570,573,587,589,591,593..594,597..598,601) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 538..563 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 554..574 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(554,557,570,574) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 566..591 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 582..602 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(582,585,598,602) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..607 /gene="ZNF573" /coded_by="NM_152360.4:499..2322" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS12508.1" /db_xref="GeneID:126231" /db_xref="HGNC:HGNC:26420" ORIGIN 1 mescsvaqag vqwpdlsslq pppprfkqfs chslqvagit dldlqceiis yievptyetd 61 isstqlqsiy kreklyeckk cqkkfssgyq lilhhrfhvi erpyeckecg knfrsgyqlt 121 lhqrfhtgek pyectecgkn frsgyqltvh qrfhtgekty ecrqcgkafi yashivqher 181 ihtggkpyec qecgrafsqg ghlrihqrvh tgekpykcke cgktfsrrsn lvehgqfhtd 241 ekpyicekcg kafrrghqlt vhqrvhtgkk pyeckecgkg yttasyfllh qrihkggkpy 301 eckeckktft lyrnltrhqn ihtgeklfec kqcgktyttg sklfqhqkth tgekpyecke 361 cgkafslygy lkqhqkihtg mkhfeckeck ktftlyrnlt rhqnihtgkk lfecqecgka 421 ystgsnliqh rkthtgekpy kckecgktfs lhgylnqhqk ihtgmkpyec kvcrktftfy 481 rnltlhqsih tdekpfecke cgktfrrssh ltahqsihad kkpyeckecg kafkmygylt 541 qhqkihtggk pyeckecgka fsrasnlvqh erihtgekpy vckqcgktfr ygsalkahqr 601 ihrsikv // LOCUS NP_001308133 63 aa linear PRI 13-AUG-2020 DEFINITION cytochrome c oxidase assembly factor 1 homolog isoform c [Homo sapiens]. ACCESSION NP_001308133 VERSION NP_001308133.1 DBSOURCE REFSEQ: accession NM_001321204.2 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 63) 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 3 (residues 1 to 63) 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 BP377872.1, DA099188.1 and AC005189.2. Transcript Variant: This variant (10), as well as variants 8, 9, and 11, 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. ##Evidence-Data-START## Transcript exon combination :: DA099188.1, BX491389.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..63 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7p13" Protein 1..63 /product="cytochrome c oxidase assembly factor 1 homolog isoform c" /note="cytochrome c oxidase assembly protein 1 homolog; mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDa" /calculated_mol_wt=6960 CDS 1..63 /gene="COA1" /gene_synonym="C7orf44; MITRAC15" /coded_by="NM_001321204.2:199..390" /note="isoform c is encoded by transcript variant 10" /db_xref="CCDS:CCDS83177.1" /db_xref="GeneID:55744" /db_xref="HGNC:HGNC:21868" /db_xref="MIM:614769" ORIGIN 1 mmwqkyagsr rsmplgaril fhgvfyaggf aivyyliqsk ypasrlrpdl llacscssir 61 gnt // LOCUS NP_001273661 344 aa linear PRI 13-AUG-2020 DEFINITION growth hormone-regulated TBC protein 1 isoform 2 [Homo sapiens]. ACCESSION NP_001273661 XP_005268392 VERSION NP_001273661.1 DBSOURCE REFSEQ: accession NM_001286732.2 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 344) 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 3 (residues 1 to 344) AUTHORS Lu C, Kasik J, Stephan DA, Yang S, Sperling MA and Menon RK. TITLE Grtp1, a novel gene regulated by growth hormone JOURNAL Endocrinology 142 (10), 4568-4571 (2001) PUBMED 11564724 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from CX788865.1, AB449887.1 and AK026127.1. On Nov 14, 2013 this sequence version replaced XP_005268392.1. Transcript Variant: This variant (2) lacks a 3' coding exon and its 3' terminal exon extends past a splice site that is used in variant 1, resulting in a distinct 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. ##Evidence-Data-START## Transcript exon combination :: AK300897.1, AB449887.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..344 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="13" /map="13q34" Protein 1..344 /product="growth hormone-regulated TBC protein 1 isoform 2" /note="TBC1 domain family member 6" /calculated_mol_wt=38965 Region 65..278 /region_name="TBC" /note="Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs; smart00164" /db_xref="CDD:214540" CDS 1..344 /gene="GRTP1" /gene_synonym="TBC1D6" /coded_by="NM_001286732.2:80..1114" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS66591.1" /db_xref="GeneID:79774" /db_xref="HGNC:HGNC:20310" ORIGIN 1 mqpaersrvp ridpygferp edfddaayek ffssylvtlt rraikwsrll qgggvprsrt 61 vkryvrkgvp lehrarvwmv lsgaqaqmdq npgyyhqllq gernprleda irtdlnrtfp 121 dnvkfrkttd pclqrtlynv llayghhnqg vgycqgmnfi agylilitnn eeesfwllda 181 lvgrilpdyy spamlglktd qevlgelvra klpavgalme rlgvlwtllv srwficlfvd 241 ilpvetvlri wdclfnegsk iifrvaltli kqhqelilea tsvpdicdkf kqitkgsfvm 301 echtfmqvcg aargsvpsqg apphlqpggc sdhpegaqdg hqwa // LOCUS NP_067019 1137 aa linear PRI 14-AUG-2020 DEFINITION electrogenic sodium bicarbonate cotransporter 4 isoform a [Homo sapiens]. ACCESSION NP_067019 VERSION NP_067019.3 DBSOURCE REFSEQ: accession NM_021196.3 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 1137) AUTHORS Gildea JJ, Xu P, Kemp BA, Carlson JM, Tran HT, Bigler Wang D, Langouet-Astrie CJ, McGrath HE, Carey RM, Jose PA and Felder RA. TITLE Sodium bicarbonate cotransporter NBCe2 gene variants increase sodium and bicarbonate transport in human renal proximal tubule cells JOURNAL PLoS ONE 13 (4), e0189464 (2018) PUBMED 29642240 REMARK GeneRIF: NBCe2 activity is stimulated by an increase in intracellular sodium and is hyper-responsive in hRPTCs carrying HV SLC4A5 rs7571842 through an aberrant HNF4A-mediated mechanism Publication Status: Online-Only REFERENCE 2 (residues 1 to 1137) AUTHORS Gildea JJ, Xu P, Carlson JM, Gaglione RT, Bigler Wang D, Kemp BA, Reyes CM, McGrath HE, Carey RM, Jose PA and Felder RA. TITLE The sodium-bicarbonate cotransporter NBCe2 (slc4a5) expressed in human renal proximal tubules shows increased apical expression under high-salt conditions JOURNAL Am. J. Physiol. Regul. Integr. Comp. Physiol. 309 (11), R1447-R1459 (2015) PUBMED 26447209 REMARK GeneRIF: NBCe2 could be important in proximal kidney tubule apical sodium and bicarbonate cotransport under high-salt conditions. REFERENCE 3 (residues 1 to 1137) AUTHORS Wen D and Sansom SC. TITLE Physiological role of NBCe2 in the regulation of electrolyte transport in the distal nephron JOURNAL Am. J. Physiol. Renal Physiol. 309 (6), F489-F491 (2015) PUBMED 26136555 REMARK GeneRIF: we summarize the potential function of NBCe2 in the regulation of blood pressure, acid-base, and K(+) and Ca(2+) transport in the distal nephron--{REVIEW} Review article REFERENCE 4 (residues 1 to 1137) AUTHORS Xie P, Kranzler HR, Yang C, Zhao H, Farrer LA and Gelernter J. TITLE Genome-wide association study identifies new susceptibility loci for posttraumatic stress disorder JOURNAL Biol. Psychiatry 74 (9), 656-663 (2013) PUBMED 23726511 REFERENCE 5 (residues 1 to 1137) AUTHORS Carey RM, Schoeffel CD, Gildea JJ, Jones JE, McGrath HE, Gordon LN, Park MJ, Sobota RS, Underwood PC, Williams J, Sun B, Raby B, Lasky-Su J, Hopkins PN, Adler GK, Williams SM, Jose PA and Felder RA. TITLE Salt sensitivity of blood pressure is associated with polymorphisms in the sodium-bicarbonate cotransporter JOURNAL Hypertension 60 (5), 1359-1366 (2012) PUBMED 22987918 REMARK GeneRIF: Data indicate that 2 SNPs in SLC4A5 (rs7571842 and rs10177833) showed highly significant results and large effects sizes. REFERENCE 6 (residues 1 to 1137) AUTHORS Sassani P, Pushkin A, Gross E, Gomer A, Abuladze N, Dukkipati R, Carpenito G and Kurtz I. TITLE Functional characterization of NBC4: a new electrogenic sodium-bicarbonate cotransporter JOURNAL Am. J. Physiol., Cell Physiol. 282 (2), C408-C416 (2002) PUBMED 11788353 REFERENCE 7 (residues 1 to 1137) AUTHORS Soleimani M and Burnham CE. TITLE Na+:HCO(3-) cotransporters (NBC): cloning and characterization JOURNAL J. Membr. Biol. 183 (2), 71-84 (2001) PUBMED 11562789 REMARK Review article REFERENCE 8 (residues 1 to 1137) 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 9 (residues 1 to 1137) AUTHORS Pushkin A, Abuladze N, Newman D, Lee I, Xu G and Kurtz I. TITLE Cloning, characterization and chromosomal assignment of NBC4, a new member of the sodium bicarbonate cotransporter family JOURNAL Biochim. Biophys. Acta 1493 (1-2), 215-218 (2000) PUBMED 10978526 REFERENCE 10 (residues 1 to 1137) AUTHORS Pushkin A, Abuladze N, Newman D, Lee I, Xu G and Kurtz I. TITLE Two C-terminal variants of NBC4, a new member of the sodium bicarbonate cotransporter family: cloning, characterization, and localization JOURNAL IUBMB Life 50 (1), 13-19 (2000) PUBMED 11087115 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF293337.2 and AF243499.2. On Feb 16, 2007 this sequence version replaced NP_067019.2. Summary: This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms 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 (a) 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 :: AF243499.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1137 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2p13.1" Protein 1..1137 /product="electrogenic sodium bicarbonate cotransporter 4 isoform a" /note="electrogenic sodium bicarbonate cotransporter 4; solute carrier family 4 (sodium bicarbonate cotransporter), member 5" /calculated_mol_wt=126125 Region 114..1070 /region_name="ae" /note="anion exchange protein; TIGR00834" /db_xref="CDD:273290" Region 141..408 /region_name="Band_3_cyto" /note="Band 3 cytoplasmic domain; pfam07565" /db_xref="CDD:284893" Region 488..1023 /region_name="HCO3_cotransp" /note="HCO3- transporter family; pfam00955" /db_xref="CDD:279322" Site 522..544 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)" Site 556..587 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)" Site 607..628 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)" Site 743..762 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)" Site 774..795 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)" Site 829..847 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)" Site 867..883 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)" Site 889..908 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)" Site 929..948 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)" Site 954..971 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)" Site 1017..1034 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)" Site 1040..1057 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9BY07.2)" CDS 1..1137 /gene="SLC4A5" /gene_synonym="NBC4; NBCe2" /coded_by="NM_021196.3:3..3416" /note="isoform a is encoded by transcript variant a" /db_xref="CCDS:CCDS1936.1" /db_xref="GeneID:57835" /db_xref="HGNC:HGNC:18168" /db_xref="MIM:606757" ORIGIN 1 mkvkeekagv gkldhtnhrr rfpdqkecpp ihiglpvpty pqrktdqkgh lsglqkvhwg 61 lrpdqpqqel tgpgsgassq dssmdlisrt rspaaeqlqd ilgeedeapn ptlftemdtl 121 qhdgdqmewk esarwikfee kveeggerws kphvstlslh slfelrtclq tgtvlldlds 181 gslpqiiddv iekqiedgll rpelrervsy vllrrhrhqt kkpihrslad igksvsttnr 241 sparspgagp slhhstedlr mrqsanygrl chaqsrsmnd isltpntdqr knkfmkkipk 301 dseasnvlvg evdfldqpfi afvrliqsam lggvtevpvp trflfillgp sgraksynei 361 graiatlmvd dlfsdvayka rnredliagi defldevivl ppgewdpnir ieppkkvpsa 421 dkrksvfsla elgqmngsvg ggggapgggn gggggggsgg gagsggaggt ssgddgempa 481 mheigeeliw tgrffgglcl dikrklpwfp sdfydgfhiq sisailfiyl gcitnaitfg 541 gllgdatdny qgvmesflgt amagslfclf sgqpliilss tgpilifekl lfdfskgngl 601 dymefrlwig lhsavqclil vatdasfiik yitrfteegf stlisfifiy daikkmigaf 661 kyypinmdfk pnfittykce cvapdtvntt vfnasaplap dtnaslynll nltaldwsll 721 skkeclsygg rllgnsckfi pdlalmsfil ffgtysmtlt lkkfkfsryf ptkvralvad 781 fsivfsilmf cgidacfgle tpklhvpsvi kptrpdrgwf vapfgknpww vypasilpal 841 lvtilifmdq qitavivnrk enklkkaagy hldlfwvgil malcsfmglp wyvaatvisi 901 ahidslkmet etsapgeqpq flgvreqrvt giivfiltgi svflapilkc iplpvlygvf 961 lymgvaslng iqmgtggsef kiqkkltpfw ercklflmpa khqpdhaflr hvplrrihlf 1021 tlvqilclav lwilkstvaa iifpvmilgl iivrrlldfi fsqhdlawid nilpekekke 1081 tdkkrkrkkg ahedcdeepq fpppsvikip mesvqsdpqn gihciarkrs sswsysl // LOCUS NP_001310949 497 aa linear PRI 14-AUG-2020 DEFINITION pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 9 [Homo sapiens]. ACCESSION NP_001310949 VERSION NP_001310949.1 DBSOURCE REFSEQ: accession NM_001324020.2 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 497) 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 3 (residues 1 to 497) 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 497) 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 5 (residues 1 to 497) 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 497) 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 7 (residues 1 to 497) 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 AC138932.4 and AC139256.5. 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 :: SRR5189667.225046.1, SRR1803615.254816.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..497 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p13.11" Protein 1..497 /product="pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 9" /note="pyridoxal-dependent decarboxylase domain-containing protein 1" /calculated_mol_wt=54695 Site 413 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q6P996.2)" CDS 1..497 /gene="PDXDC1" /gene_synonym="LP8165" /coded_by="NM_001324020.2:175..1668" /note="isoform 9 is encoded by transcript variant 9" /db_xref="GeneID:23042" /db_xref="HGNC:HGNC:28995" /db_xref="MIM:614244" ORIGIN 1 mdaslekiad ptlaemgknl keavkmleds qrteeengkk lisgdipgpl qgsgqdmvsi 61 lqlvqnlmhg dedeepqspr iqnigeqghm allghslgay istldkeklr klttrilsdt 121 tlwlcrifry engcayfhee ereglakicr laihsryedf vvdgfnvlyn kkpviylsaa 181 arpglgqylc nqlglpfpcl crvpcntvfg sqhqmdvafl eklikddier grlplllvan 241 agtaavghtd kigrlkelce qygiwlhveg vnlatlalgy vsssvlaaak cdsmtmtpgp 301 wlglpavpav tlykhddpal tlvagltsnk ptdklralpl wlslqylgld gfverikhac 361 qlsqrlqesl kkvnyikilv edelsspvvv frffqelpgs dpvfkavpvp nmtpsgvgre 421 rhscdalnrw lgeqlkqlvp asgltvmdle aegtclrfsp lmtaagwshc gtttrydcvr 481 srlttrlpgs tgeqapp // LOCUS NP_001308131 63 aa linear PRI 14-AUG-2020 DEFINITION cytochrome c oxidase assembly factor 1 homolog isoform c [Homo sapiens]. ACCESSION NP_001308131 VERSION NP_001308131.1 DBSOURCE REFSEQ: accession NM_001321202.2 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 63) 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 3 (residues 1 to 63) 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 BP377872.1, AK309315.1 and AC005189.2. Transcript Variant: This variant (8), as well as variants 9, 10, and 11, 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. ##Evidence-Data-START## Transcript exon combination :: AK309315.1, DA947772.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..63 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7p13" Protein 1..63 /product="cytochrome c oxidase assembly factor 1 homolog isoform c" /note="cytochrome c oxidase assembly protein 1 homolog; mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDa" /calculated_mol_wt=6960 CDS 1..63 /gene="COA1" /gene_synonym="C7orf44; MITRAC15" /coded_by="NM_001321202.2:235..426" /note="isoform c is encoded by transcript variant 8" /db_xref="CCDS:CCDS83177.1" /db_xref="GeneID:55744" /db_xref="HGNC:HGNC:21868" /db_xref="MIM:614769" ORIGIN 1 mmwqkyagsr rsmplgaril fhgvfyaggf aivyyliqsk ypasrlrpdl llacscssir 61 gnt // LOCUS NP_001308134 63 aa linear PRI 14-AUG-2020 DEFINITION cytochrome c oxidase assembly factor 1 homolog isoform c [Homo sapiens]. ACCESSION NP_001308134 VERSION NP_001308134.1 DBSOURCE REFSEQ: accession NM_001321205.2 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 63) 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 3 (residues 1 to 63) 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 BP377872.1, DB003365.1 and AC005189.2. Transcript Variant: This variant (11), as well as variants 8, 9, and 10, 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. ##Evidence-Data-START## Transcript exon combination :: DB003365.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..63 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7p13" Protein 1..63 /product="cytochrome c oxidase assembly factor 1 homolog isoform c" /note="cytochrome c oxidase assembly protein 1 homolog; mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 15 kDa" /calculated_mol_wt=6960 CDS 1..63 /gene="COA1" /gene_synonym="C7orf44; MITRAC15" /coded_by="NM_001321205.2:354..545" /note="isoform c is encoded by transcript variant 11" /db_xref="CCDS:CCDS83177.1" /db_xref="GeneID:55744" /db_xref="HGNC:HGNC:21868" /db_xref="MIM:614769" ORIGIN 1 mmwqkyagsr rsmplgaril fhgvfyaggf aivyyliqsk ypasrlrpdl llacscssir 61 gnt // LOCUS NP_861440 522 aa linear PRI 14-AUG-2020 DEFINITION plexin-A4 isoform 2 precursor [Homo sapiens]. ACCESSION NP_861440 VERSION NP_861440.2 DBSOURCE REFSEQ: accession NM_181775.4 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 522) AUTHORS Podojil JR, Chiang MY, Ifergan I, Copeland R, Liu LN, Maloveste S, Langermann S, Liebenson D, Balabanov R, Chi H, Chen L, Vignali DAA and Miller SD. TITLE B7-H4 Modulates Regulatory CD4(+) T Cell Induction and Function via Ligation of a Semaphorin 3a/Plexin A4/Neuropilin-1 Complex JOURNAL J. Immunol. 201 (3), 897-907 (2018) PUBMED 29898965 REMARK GeneRIF: B7-H4Ig binds to Sema3a, which acts as a functional bridge to stimulate an Nrp-1/Plexin A4 heterodimer. REFERENCE 2 (residues 1 to 522) AUTHORS Smolkin T, Nir-Zvi I, Duvshani N, Mumblat Y, Kessler O and Neufeld G. TITLE Complexes of plexin-A4 and plexin-D1 convey semaphorin-3C signals to induce cytoskeletal collapse in the absence of neuropilins JOURNAL J. Cell. Sci. 131 (9) (2018) PUBMED 29661844 REMARK GeneRIF: In the absence of neuropilins, plexin-A4 formed complexes with plexin-D1, and was required in addition to plexin-D1 to enable Sema3C-induced signal transduction. Publication Status: Online-Only REFERENCE 3 (residues 1 to 522) AUTHORS Kang SS, Kurti A, Wojtas A, Baker KE, Liu CC, Kanekiyo T, Deming Y, Cruchaga C, Estus S, Bu G and Fryer JD. TITLE Identification of plexin A4 as a novel clusterin receptor links two Alzheimer's disease risk genes JOURNAL Hum. Mol. Genet. 25 (16), 3467-3475 (2016) PUBMED 27378688 REMARK GeneRIF: Both CLU and PLXNA4 have been genetically associated with Alzheimer disease (AD) risk and our data thus provide a direct relationship between two AD risk genes. Our data suggest that increasing the levels of PLXNA4 or targeting CLU-PLXNA4 interactions may have therapeutic value in AD. REFERENCE 4 (residues 1 to 522) AUTHORS Belyk M, Kraft SJ and Brown S. CONSRTM Pediatric Imaging, Neurocognition and Genetics Study TITLE PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure JOURNAL J. Hum. Genet. 60 (3), 147-150 (2015) PUBMED 25518740 REMARK GeneRIF: Data indicate that plexin A1-4 (PLXNA1-4) mediation of neuroanatomical traits can be detected using in vivo neuroimaging techniques. REFERENCE 5 (residues 1 to 522) AUTHORS Jun G, Asai H, Zeldich E, Drapeau E, Chen C, Chung J, Park JH, Kim S, Haroutunian V, Foroud T, Kuwano R, Haines JL, Pericak-Vance MA, Schellenberg GD, Lunetta KL, Kim JW, Buxbaum JD, Mayeux R, Ikezu T, Abraham CR and Farrer LA. TITLE PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation JOURNAL Ann. Neurol. 76 (3), 379-392 (2014) PUBMED 25043464 REMARK GeneRIF: There is a significant association between Alzheimer's disease risk and SNPs in PLXNA4. REFERENCE 6 (residues 1 to 522) 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 522) 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 522) AUTHORS Whitford KL and Ghosh A. TITLE Plexin signaling via off-track and rho family GTPases JOURNAL Neuron 32 (1), 1-3 (2001) PUBMED 11604131 REMARK Review article REFERENCE 9 (residues 1 to 522) AUTHORS Tamagnone L, Artigiani S, Chen H, He Z, Ming GI, Song H, Chedotal A, Winberg ML, Goodman CS, Poo M, Tessier-Lavigne M and Comoglio PM. TITLE Plexins are a large family of receptors for transmembrane, secreted, and GPI-anchored semaphorins in vertebrates JOURNAL Cell 99 (1), 71-80 (1999) PUBMED 10520995 REMARK Erratum:[Cell 2001 Jan 26;104(2):following 320] REFERENCE 10 (residues 1 to 522) AUTHORS Touchman JW, Bouffard GG, Weintraub LA, Idol JR, Wang L, Robbins CM, Nussbaum JC, Lovett M and Green ED. TITLE 2006 expressed-sequence tags derived from human chromosome 7-enriched cDNA libraries JOURNAL Genome Res. 7 (3), 281-292 (1997) PUBMED 9074931 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC028744.2 and AL137352.1. On Sep 28, 2007 this sequence version replaced NP_861440.1. Transcript Variant: This variant (2) has different 5' and 3' terminal exons, and is missing many coding exons found in variant 1. It thus encodes a shorter isoform (2) with the same N-terminus, but a 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 :: GQ901020.1, BC028744.2 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..522 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q32.3" Protein 1..522 /product="plexin-A4 isoform 2 precursor" /note="epididymis secretory sperm binding protein" /calculated_mol_wt=55589 sig_peptide 1..23 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2594 Region 39..469 /region_name="Sema" /note="The Sema domain, a protein interacting module, of semaphorins and plexins; cl15693" /db_xref="CDD:326631" CDS 1..522 /gene="PLXNA4" /gene_synonym="FAYV2820; PLEXA4; PLXNA4A; PLXNA4B; PRO34003" /coded_by="NM_181775.4:378..1946" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS5826.1" /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 ksgklkksfg tgpqggitqe wigvegdppg 481 aniasqeqml cvylqcsshk aisdqrvqpl lccflnvpgn ss // LOCUS NP_001310950 471 aa linear PRI 14-AUG-2020 DEFINITION pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 10 [Homo sapiens]. ACCESSION NP_001310950 VERSION NP_001310950.1 DBSOURCE REFSEQ: accession NM_001324021.2 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 471) 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 3 (residues 1 to 471) 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 471) 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 5 (residues 1 to 471) 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 471) 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 7 (residues 1 to 471) 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 AC138932.4 and AC139256.5. 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 :: SRR1660807.4631.1, SRR1660805.155551.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..471 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p13.11" Protein 1..471 /product="pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 10" /note="pyridoxal-dependent decarboxylase domain-containing protein 1" /calculated_mol_wt=51872 CDS 1..471 /gene="PDXDC1" /gene_synonym="LP8165" /coded_by="NM_001324021.2:175..1590" /note="isoform 10 is encoded by transcript variant 10" /db_xref="GeneID:23042" /db_xref="HGNC:HGNC:28995" /db_xref="MIM:614244" ORIGIN 1 mdaslekiad ptlaemgknl keavkmleds qrrteeengk klisgdipgp lqgriqnige 61 qghmallghs lgayistldk eklrklttri lsdttlwlcr ifryengcay fheeeregla 121 kicrlaihsr yedfvvdgfn vlynkkpviy lsaaarpglg qylcnqlglp fpclcrvpcn 181 tvfgsqhqmd vafleklikd diergrlpll lvanagtaav ghtdkigrlk elceqygiwl 241 hvegvnlatl algyvsssvl aaakcdsmtm tpgpwlglpa vpavtlykhd dpaltlvagl 301 tsnkptdklr alplwlslqy lgldgfveri khacqlsqrl qeslkkvnyi kilvedelss 361 pvvvfrffqe lpgsdpvfka vpvpnmtpsg vgrerhscda lnrwlgeqlk qlvpasgltv 421 mdleaegtcl rfsplmtaag wshcgtttry dcvrsrlttr lpgstgeqap p // LOCUS NP_001272378 498 aa linear PRI 14-AUG-2020 DEFINITION pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 6 [Homo sapiens]. ACCESSION NP_001272378 VERSION NP_001272378.1 DBSOURCE REFSEQ: accession NM_001285449.2 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 498) 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 3 (residues 1 to 498) 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 498) 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 5 (residues 1 to 498) 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 498) 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 7 (residues 1 to 498) 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 BC045554.1, CD370048.1 and AC139256.5. ##Evidence-Data-START## Transcript exon combination :: BC053946.1, SRR1803614.242567.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..498 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p13.11" Protein 1..498 /product="pyridoxal-dependent decarboxylase domain-containing protein 1 isoform 6" /note="pyridoxal-dependent decarboxylase domain-containing protein 1" /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:302748" Site 414 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q6P996.2)" CDS 1..498 /gene="PDXDC1" /gene_synonym="LP8165" /coded_by="NM_001285449.2:175..1671" /note="isoform 6 is encoded by transcript variant 6" /db_xref="CCDS:CCDS73830.1" /db_xref="GeneID:23042" /db_xref="HGNC:HGNC:28995" /db_xref="MIM:614244" 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 NP_001342192 878 aa linear PRI 18-AUG-2020 DEFINITION nUT family member 2E [Homo sapiens]. ACCESSION NP_001342192 XP_024303718 VERSION NP_001342192.1 DBSOURCE REFSEQ: accession NM_001355263.2 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 878) AUTHORS Gooskens SL, Kenny C, Lazaro A, O'Meara E, van Tinteren H, Spreafico F, Vujanic G, Leuschner I, Coulomb-L'Hermine A, Perotti D, de Camargo B, Bergeron C, Acha Garcia T, Tanaka M, Pieters R, Pritchard-Jones K, Graf N, van den Heuvel-Eibrink MM and O'Sullivan MJ. TITLE The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear cell sarcoma of the kidney JOURNAL Genes Chromosomes Cancer 55 (2), 143-147 (2016) PUBMED 26542179 REMARK GeneRIF: Studies show that patients with clear cell sarcoma of the kidney (CCSK) and the fusion YWHAE-NUTM2B/E were relatively young, had low tumor volumes, and did not present with stage I disease which fail to identify an explicit clinical phenotype. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL135925.10. On Jul 1, 2020 this sequence version replaced XP_024303718.1. Sequence Note:. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..878 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10q22.3" Protein 1..878 /product="nUT family member 2E" /note="family with sequence similarity 22, member E" /calculated_mol_wt=93848 Region 136..875 /region_name="NUT" /note="NUT protein; pfam12881" /db_xref="CDD:315542" CDS 1..878 /gene="NUTM2E" /gene_synonym="FAM22E" /coded_by="NM_001355263.2:3347..5983" /db_xref="GeneID:283008" /db_xref="HGNC:HGNC:23448" ORIGIN 1 mevkgpsgrs fccesegqfk sclkrhtpsl llpsswkgns gsclmaealh rtsptpnscp 61 lplplcrmsg vlcsrnlftf kfslfqldsg asgepghslg ltlgfsycgn cqtavvsaqp 121 egmasngayp vlgpgvtanp gtslsvftal pfttpapgpa hgpllvtaga ppggplvlst 181 fpstplvteq dgcspsgaga snvfvqmrte vgpvkaaqaq tlvltqaplv wqapgalcgg 241 vvcpppllla aapvvpvmaa qvvggtqace ggwsqglplp pppppaaqlp pivsqgnagp 301 wpqgahgess lassqakapp ddscnprsvy enfrlwqhyk plarrhlpqs pdtealscfl 361 ipvlrslarr kptmtleegl wramrewqht snfdrmifye maekflefea eeemqiqksq 421 wmkgpqclpp patprleprg ppapevvkqp vylpskagpk aqtaclpppr pqrpvtkarr 481 pppqphrrae tkarlppprp qrpaetkvpe eippevvqey vdimeellgp slgatgepek 541 qreegkvkqp qeedwtppdp gllsyidklc sqkdfvtkve avihpqflee llspdpqmdf 601 lalsqdleqe egltlaqlve krlpplkekq hsraapsrgt arldsssskf aagqgaerdv 661 pdpqegvgme tcppqttard sqgrgrahtg marsedsvvl lgcqdspglr aarptsppqd 721 hrptcpgvgt kdaldlpggs pvreshglaq gsseeeelps lafllgsqhk llpwwlpqsp 781 vpasgllspe kwgpqgthqs psaerrglnl apspankakk qplfgslspa ektphrgpgl 841 rvsgeqsltw glggpsqsqk rkgdplvsrk ekkqhcsq // LOCUS NP_001123362 347 aa linear PRI 18-AUG-2020 DEFINITION leucine-rich repeat-containing protein 69 isoform 1 [Homo sapiens]. ACCESSION NP_001123362 XP_001717050 XP_001717080 XP_001717197 VERSION NP_001123362.1 DBSOURCE REFSEQ: accession NM_001129890.1 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 347) 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 REFERENCE 2 (residues 1 to 347) 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 347) 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 AC087439.6, AC104966.4 and AC104967.4. On or before Jul 10, 2008 this sequence version replaced XP_001717197.1, XP_001717080.1, XP_001717050.1. Sequence Note: This RefSeq record was created from genomic sequence data to make the sequence consistent with the reference genome assembly. This transcripts is predicted based on homologous transcript alignments, including mouse AK161371.1 and X. laevis BC087488.1. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..347 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="8" /map="8q21.3" Protein 1..347 /product="leucine-rich repeat-containing protein 69 isoform 1" /note="leucine-rich repeat-containing protein 69" /calculated_mol_wt=39461 Region 37..95 /region_name="LRR_8" /note="Leucine rich repeat; pfam13855" /db_xref="CDD:290566" Region 37..77 /region_name="LRR_4" /note="Leucine Rich repeats (2 copies); pfam12799" /db_xref="CDD:289563" Region 38..60 /region_name="LRR 1" /note="propagated from UniProtKB/Swiss-Prot (Q6ZNQ3.2)" Region 39..61 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 60..100 /region_name="LRR_4" /note="Leucine Rich repeats (2 copies); pfam12799" /db_xref="CDD:289563" Region 61..82 /region_name="LRR 2" /note="propagated from UniProtKB/Swiss-Prot (Q6ZNQ3.2)" Region 62..84 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 84..105 /region_name="LRR 3" /note="propagated from UniProtKB/Swiss-Prot (Q6ZNQ3.2)" Region 85..131 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 108..129 /region_name="LRR 4" /note="propagated from UniProtKB/Swiss-Prot (Q6ZNQ3.2)" Region 131..153 /region_name="LRR 5" /note="propagated from UniProtKB/Swiss-Prot (Q6ZNQ3.2)" Region 132..154 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 154..175 /region_name="LRR 6" /note="propagated from UniProtKB/Swiss-Prot (Q6ZNQ3.2)" Region 155..177 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 177..199 /region_name="LRR 7" /note="propagated from UniProtKB/Swiss-Prot (Q6ZNQ3.2)" Region 178..200 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 200..222 /region_name="LRR 8" /note="propagated from UniProtKB/Swiss-Prot (Q6ZNQ3.2)" Region 201..221 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" CDS 1..347 /gene="LRRC69" /coded_by="NM_001129890.1:44..1087" /note="isoform 1 is encoded by transcript variant 1" /db_xref="GeneID:100130742" /db_xref="HGNC:HGNC:34303" ORIGIN 1 mterllikal sggkntkiit lngkkmtkmp salgklpglk tlvlqnnlip kvcpelcnlt 61 qlttlnlgnn lleevpeemk yltslknlhl sgnricrfap gacdglqnli llnlnnnhlt 121 qlpqevsrlk sltymsinyn qlasiprelc flenlvelql nynqlicipe eikflkklqk 181 lllarnnigv lpeelcdlkk lrildiagni iqifpsgfqd lklrefyceg nplflqqpvi 241 stqqenvwsl qeitsrfvmn qlaennpflm ddierypqvr smisqgktca icgqyfitvw 301 lecvrfvppp kdwkisknlk lvplqvlics ykcftqrdpn lfgiaqv // LOCUS NP_001293001 478 aa linear PRI 19-AUG-2020 DEFINITION putative PRAME family member 26 [Homo sapiens]. ACCESSION NP_001293001 XP_005276181 XP_006711146 XP_006725019 VERSION NP_001293001.1 DBSOURCE REFSEQ: accession NM_001306072.2 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 478) 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC245056.3. On or before Apr 14, 2015 this sequence version replaced XP_006711146.1, XP_006725019.1, XP_005276181.1. CCDS Note: This PRAME family member lacks best hit transcript support. Thus, the exon combination of this CCDS representation is inferred from paralogous transcript alignments. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..478 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.21" Protein 1..478 /product="putative PRAME family member 26" /note="PRAME family member 25" /calculated_mol_wt=55223 CDS 1..478 /gene="PRAMEF26" /gene_synonym="PRAMEF25" /coded_by="NM_001306072.2:143..1579" /db_xref="CCDS:CCDS76106.1" /db_xref="GeneID:645359" /db_xref="HGNC:HGNC:49178" ORIGIN 1 mkmsirtppr llelagrsvl rdqalamstl eelptelfpp lfmeafsrrr cealklmvqa 61 wpfrrlplrp likmpcletf qavlngldal lthgvrprrw klqvldlqdv cenfwmvwse 121 amargcflna krnkkpvqdc prmrgrqplt vfvelwlknr tldehltcll lwvkqrkdll 181 hlcckklkil gmpfrnirsi lkmvnldciq evevnckwvl piltqftpyl ghmrnlqklv 241 lshmdvsryv speqkkeivt qfttqflklh clqklymnsv sfleghldql lsclktslkv 301 ltitncvlle sdlkhlsqcp sisqlktldl sgirltnysl vplqillekv aatleyldld 361 dcgiidsqvn ailpalsrcf elntfsfcgn pismatlenl lshtiilknl clelypapre 421 sygadgtlcw srftqirael mkrvrdlrhp krilfgtdyc pdcgnrsfyd leadqycc // LOCUS NP_001297063 478 aa linear PRI 20-AUG-2020 DEFINITION PRAME family member 25 [Homo sapiens]. ACCESSION NP_001297063 XP_005276180 XP_006711145 VERSION NP_001297063.1 DBSOURCE REFSEQ: accession NM_001310134.2 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 478) 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 REFERENCE 2 (residues 1 to 478) 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC245056.3. On or before Jun 30, 2015 this sequence version replaced XP_006711145.1, XP_005276180.1. CCDS Note: This CCDS representation lacks full-length human transcript support. Its exon combination is therefore inferred, but it is supported by paralogous transcripts. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..478 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.21" Protein 1..478 /product="PRAME family member 25" /note="putative PRAME family member 25" /calculated_mol_wt=55223 Region 99..126 /region_name="LRR 1, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A6NGN4.2)" Region 181..205 /region_name="LRR 2, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A6NGN4.2)" Region 206..232 /region_name="LRR 3, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A6NGN4.2)" Region 233..268 /region_name="LRR 4, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A6NGN4.2)" Region 269..294 /region_name="LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A6NGN4.2)" Region 295..326 /region_name="LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A6NGN4.2)" Region 327..347 /region_name="LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A6NGN4.2)" Region 351..378 /region_name="LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A6NGN4.2)" Region 379..403 /region_name="LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (A6NGN4.2)" CDS 1..478 /gene="PRAMEF25" /coded_by="NM_001310134.2:151..1587" /db_xref="CCDS:CCDS81265.1" /db_xref="GeneID:441873" /db_xref="HGNC:HGNC:49179" ORIGIN 1 mkmsirtppr llelagrsvl rdqalamstl eelptelfpp lfmeafsrrr cealklmvqa 61 wpfrrlplrp likmpcletf qavlngldal lthgvrprrw klqvldlqdv cenfwmvwse 121 amargcflna krnkkpvqdc prmrgrqplt vfvelwlknr tldehltcll lwvkqrkdll 181 hlcckklkil gmpfrnirsi lkmvnldciq evevnckwvl piltqftpyl ghmrnlqklv 241 lshmdvsryv speqkkeivt qfttqflklh clqklymnsv sfleghldql lsclktslkv 301 ltitncvlle sdlkhlsqcp sisqlktldl sgirltnysl vplqillekv aatleyldld 361 dcgiidsqvn ailpalsrcf elntfsfcgn pismatlenl lshtiilknl clelypapre 421 sygadgtlcw srftqirael mkrvrdlrhp krilfgtdyc pdcgnrsfyd leadqycc // LOCUS NP_001252544 310 aa linear PRI 20-AUG-2020 DEFINITION protein FAM153B [Homo sapiens]. ACCESSION NP_001252544 VERSION NP_001252544.1 DBSOURCE REFSEQ: accession NM_001265615.1 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 310) 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 VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC139491.2. 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## RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2145245 [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..310 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q35.2" Protein 1..310 /product="protein FAM153B" /calculated_mol_wt=34531 Region 112..>185 /region_name="FAM153" /note="FAM153 family; pfam15722" /db_xref="CDD:292350" Region 178..310 /region_name="FAM153" /note="FAM153 family; pfam15722" /db_xref="CDD:292350" CDS 1..310 /gene="FAM153B" /coded_by="NM_001265615.1:113..1045" /db_xref="CCDS:CCDS43401.2" /db_xref="GeneID:202134" /db_xref="HGNC:HGNC:27323" ORIGIN 1 mvdkdterdi emkrqlrrlr elhlystwkk yqeamktslg vpqcerdegs lgkplcppei 61 lsetlpgsvk krvcfpsedh leefiaehlp easnqslltv ahadtgiqtn gdledleehg 121 pgqtvseeat evhmmegdpd tlaellirdv lqelssynge eedpeevkts lgvpqrgdle 181 dleehvpgqt vseeatgvhm mqvdpatpak sdledleehv pgqtvseeat gvhmmqvdpa 241 tlakqledst itgshqqmsa spssapaeea tektkveeev ktrkpkkktr kpskksrwnv 301 lkcwdifnif // LOCUS NP_001010890 478 aa linear PRI 20-AUG-2020 DEFINITION PRAME family member 9/15 [Homo sapiens]. ACCESSION NP_001010890 XP_291638 VERSION NP_001010890.2 DBSOURCE REFSEQ: accession NM_001010890.3 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 478) 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 REFERENCE 2 (residues 1 to 478) 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC245056.3. On Apr 12, 2014 this sequence version replaced NP_001010890.1. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..478 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.21" Protein 1..478 /product="PRAME family member 9/15" /calculated_mol_wt=55101 CDS 1..478 /gene="PRAMEF9" /coded_by="NM_001010890.3:702..2138" /db_xref="CCDS:CCDS76108.1" /db_xref="GeneID:343070" /db_xref="HGNC:HGNC:27996" ORIGIN 1 mkmsirtppr llelagrsll rdqalamstl eelptelfpp lfmeafsrrr cealklmvqa 61 wpfrrlplrp likmpcleaf qavldgldal ltqgvcprrw klqvldlqdv cenfwmvwse 121 amargsflna krnktpvqdc prmrgqqplt vfvelwlknr tldeyltyll lwvkqrkdll 181 hlcckklkil gmpfrnirsi lkmvnldciq evevnckwvl piltqftpyl ghmrnlqklv 241 lshmdvsryv speqkkeivt qfttqflklh clqklymnsv sfleghldql lsclktslkv 301 ltitncvlle sdlkhlsqcp sisqlktldl sgirltnysl vplqillekv aatleyldld 361 dcgiidsqvn ailpalsrcf elnafsfcgn pismatlenl lshtiilknl cvevypapre 421 sygadgtlcw srfaqirael mnrvrdlrhp kriffcidnc pdcgnrsfyd leadqycc // LOCUS NP_001138696 693 aa linear PRI 20-AUG-2020 DEFINITION golgin subfamily A member 6D [Homo sapiens]. ACCESSION NP_001138696 XP_370876 VERSION NP_001138696.1 DBSOURCE REFSEQ: accession NM_001145224.2 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 693) 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC068338.14. On Feb 15, 2009 this sequence version replaced XP_370876.3. 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. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..693 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q24.2" Protein 1..693 /product="golgin subfamily A member 6D" /note="golgi autoantigen, golgin subfamily a, 6D; putative golgin subfamily A member 6D" /calculated_mol_wt=79765 Region 217..686 /region_name="GOLGA2L5" /note="Putative golgin subfamily A member 2-like protein 5; pfam15070" /db_xref="CDD:291729" Region 264..>346 /region_name="V_ATPase_I" /note="V-type ATPase 116kDa subunit family; pfam01496" /db_xref="CDD:279793" CDS 1..693 /gene="GOLGA6D" /coded_by="NM_001145224.2:42..2123" /db_xref="CCDS:CCDS45308.1" /db_xref="GeneID:653643" /db_xref="HGNC:HGNC:32204" ORIGIN 1 mwpqpylpph pmmleesrqn klaaakkklk eyqqrkspgi pagaktkkkk tdsspettts 61 ggghspgdsq yqelavales ssvtinqlne nieslkqqkk qvehqleeak ktnneihkaq 121 meqletinil tlekadlktt lyhtkraarh feeeskdlag rlqyslqhiq eleralcavs 181 tqqqeedrss screavlqrr lqqtikeral lnahvtqvte slkqvqlerd eyakhikger 241 arwqermwkm sveartlkee kkrdihriqe lerslselkn qmaeppslap pavtsvveql 301 qdeakhlrqe veglegklqs qvennqalsl lskeqkqrlq eqeemlreqe aqrvreqerl 361 ceqnerlreq qktlqeqger lrkqeqrlrk qeerlrkeee rlqkqekrlw dqeerlwkke 421 erlqkqeerl alsqnhkldk qlaepqcsfe dlnnekksal qleqqvkelq ekldeehlea 481 asqrnqqlet qlslvalpge gdggqhldse eeeaprptpn ipedlesrea tssfmdlpke 541 kadgteqver relgfvqpsg vtdgmresft vyesqgavpn trhqemedvi rlaqkeeemk 601 vkllelqelv lplvgnhegh gkfliaaqnp adeptpgapa pqelgaageq dvfyevsldn 661 nvepapgvar egsphnnptv qqivqlspvm qdt // LOCUS NP_116755 1340 aa linear PRI 20-AUG-2020 DEFINITION protocadherin-11 Y-linked isoform c precursor [Homo sapiens]. ACCESSION NP_116755 VERSION NP_116755.1 DBSOURCE REFSEQ: accession NM_032973.2 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 1340) AUTHORS Anilkumar TR, Devi AN, Pillai SM, Jayakrishnan K, Oommen OV and Kumar PG. TITLE Expression of protocadherin 11Yb (PCDH11Yb) in seminal germ cells is correlated with fertility status in men JOURNAL Reprod. Fertil. Dev. 29 (11), 2100-2111 (2017) PUBMED 28241900 REMARK GeneRIF: In the present study, PCDH11Yb, but not PCDH11Ya or PCDH11Yc, was expressed in germ cells isolated from the semen of all 13 men with proven fertility. However, in several subjects from various infertility classes, there was complete absence or a significant reduction in the expression of PCDH11Yb. In conclusion, expression levels of PCDH11Yb in germ cells in the semen were correlated with the fertility status of men. REFERENCE 2 (residues 1 to 1340) AUTHORS Priddle TH and Crow TJ. TITLE Protocadherin 11X/Y a human-specific gene pair: an immunohistochemical survey of fetal and adult brains JOURNAL Cereb. Cortex 23 (8), 1933-1941 (2013) PUBMED 22744706 REMARK GeneRIF: PCDH11Y expression was detected in the fetal neocortex, ganglionic eminences, cerebellum, and inferior olive. In the adult brain, the cerebral cortex, hippocampal formation, and cerebellum and brain stem were immunoreactive. REFERENCE 3 (residues 1 to 1340) AUTHORS Priddle TH and Crow TJ. TITLE The protocadherin 11X/Y (PCDH11X/Y) gene pair as determinant of cerebral asymmetry in modern Homo sapiens JOURNAL Ann. N. Y. Acad. Sci. 1288, 36-47 (2013) PUBMED 23600975 REMARK GeneRIF: the PCDH11X/Y gene pair determines cerebral asymmetry by initiating the right shift in Homo sapiens REFERENCE 4 (residues 1 to 1340) AUTHORS Ahn K, Huh JW, Kim DS, Ha HS, Kim YJ, Lee JR and Kim HS. TITLE Quantitative analysis of alternative transcripts of human PCDH11X/Y genes JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B (3), 736-744 (2010) PUBMED 19859901 REMARK GeneRIF: The present article investigated the patterns of alternative splicing and expression of the PCDH11X/Y genes. REFERENCE 5 (residues 1 to 1340) AUTHORS Blanco-Arias P, Sargent CA and Affara NA. TITLE Protocadherin X (PCDHX) and Y (PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains JOURNAL Mamm. Genome 15 (1), 41-52 (2004) PUBMED 14727141 REFERENCE 6 (residues 1 to 1340) 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 1340) AUTHORS Chen MW, Vacherot F, De La Taille A, Gil-Diez-De-Medina S, Shen R, Friedman RA, Burchardt M, Chopin DK and Buttyan R. TITLE The emergence of protocadherin-PC expression during the acquisition of apoptosis-resistance by prostate cancer cells JOURNAL Oncogene 21 (51), 7861-7871 (2002) PUBMED 12420223 REMARK GeneRIF: A 4.8 kb cDNA was cloned from TPA-resistance LNCaP prostate cancer cells. It is an unusual protocadherin family gene with 2 large overlapping ORFs encoding homologous polypeptides, one with and one without a signal sequence. [protocadherin-PC] REFERENCE 8 (residues 1 to 1340) AUTHORS Blanco P, Sargent CA, Boucher CA, Mitchell M and Affara NA. TITLE Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain JOURNAL Mamm. Genome 11 (10), 906-914 (2000) PUBMED 11003707 REFERENCE 9 (residues 1 to 1340) 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 10 (residues 1 to 1340) 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 AF332217.1 and AJ564971.1. This sequence is a reference standard in the RefSeqGene project. Summary: This gene belongs to the protocadherin family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing seven cadherin repeats, a transmembrane domain, and a cytoplasmic tail that differs from those of the classical cadherins. This gene is located on the Y chromosome in a block of X/Y homology and is very closely related to its paralog on the X chromosome. The protein is thought to play a role in cell-cell recognition during development of the central nervous system. Alternative splicing results in multiple transcript variants encoding different isoforms. [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 :: AF332217.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2154665 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1340 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="Y" /map="Yp11.2" Protein 1..1340 /product="protocadherin-11 Y-linked isoform c precursor" /note="protocadherin 22; protocadherin-PC; protocadherin prostate cancer; protocadherin on the Y chromosome" /calculated_mol_wt=143771 sig_peptide 1..28 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" /calculated_mol_wt=3023 mat_peptide 29..1340 /product="Protocadherin-11 Y-linked. /id=PRO_0000232764" /note="propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" /calculated_mol_wt=143771 Site 59 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" Region 60..134 /region_name="E_set" /note="Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus; cl09101" /db_xref="CDD:298831" Site 80 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" Site 86 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" Region 175..277 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(182..183,240,242,273,275..276) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 285..383 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(292..293,348,350,379,381..382) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Site 376 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" Region 416..496 /region_name="CA" /note="Cadherin repeats; smart00112" /db_xref="CDD:214520" Region 504..598 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(509..510,561,563,594,596..597) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Site 585 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" Region 606..701 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(613..614,664,666,697,699..700) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 713..804 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site 805 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" Region 807..1008 /region_name="Protocadherin" /note="Protocadherin; pfam08374" /db_xref="CDD:285562" Site 845..865 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9BZA8.1)" Region <1164..>1270 /region_name="FAM75" /note="FAM75 family; pfam14650" /db_xref="CDD:291323" CDS 1..1340 /gene="PCDH11Y" /gene_synonym="PCDH-PC; PCDH22; PCDHX; PCDHY" /coded_by="NM_032973.2:735..4757" /note="isoform c precursor is encoded by transcript variant c" /db_xref="CCDS:CCDS76066.1" /db_xref="GeneID:83259" /db_xref="HGNC:HGNC:15813" /db_xref="MIM:400022" ORIGIN 1 mfrvgfliis sssslsplll vsvvrvnttn chkcllsgty ifavllvcvv fhsgaqekny 61 tireeipenv lignllkdln lslipnkslt ttmqfklvyk tgdvplirie edtgeifttg 121 aridreklca giprdehcfy evevailpde ifrlvkirfl iedindnapl fpatvinisi 181 pensainsky tlpaavdpdv gingvqnyel iksqnifgld vietpegdkm pqlivqkeld 241 reekdtyvmk vkvedggfpq rsstailqvs vtdtndnhpv fketeievsi penapvgtsv 301 tqlhatdadi genakihfsf snlvsniarr lfhlnattgl itikepldre etpnhkllvl 361 asdgglmpar amvlvnvtdv ndnvpsidir yivnpvndtv vlseniplnt kialitvtdk 421 dadhngrvtc ftdheipfrl rpvfsnqfll enaayldyes tkeyaiklla adagkpplnq 481 samlfikvkd endnapvftq sfvtvsipen nspgiqlmkv satdadsgpn aeinyllgpd 541 appefsldrr tgmltvvkkl drekedkylf tilakdngvp pltsnvtvfv siidqndnsp 601 vfthneykfy vpenlprhgt vglitvtdpd ygdnsavtls ildenddfti dsqtgvirpn 661 isfdrekqes ytfyvkaedg grvsrsssak vtinvvdvnd nkpvfivppy nysyelvlps 721 tnpgtvvfqv iavdndtgmn aevrysivgg ntrdlfaidq etgnitlmek cdvtdlglhr 781 vlvkandlgq pdslfsvviv nlfvnesvtn atlinelvrk sieapvtpnt eiadvsspts 841 dyvkilvaav agtitvvvvi fitavvrcrq aphlkaaqkn mqnsewatpn penrqmimmk 901 kkkkkkkhsp knlllnvvti eetkaddvds dgnrvtldlp idleeqtmgk ynwvttpttf 961 kpdspdlarh yksaspqpaf qiqpetplnl khhiiqelpl dntfvacdsi sncsssssdp 1021 ysvsdcgypv ttfevpvsvh trpsqrrvtf hlpegsqess sdgglgdhda gsltstshgl 1081 plgypqeeyf dratpsnrte gdgnsdpest fipglkkeit vqptveeasd nctqecliyg 1141 hsdacwmpas ldhssssqaq asalchsppl sqastqhhsp pvtqtivlch sppvtqtial 1201 chspppiqvs alhhspplvq gtalhhspps aqasalcysp plaqaaaish ssslpqvial 1261 hrsqaqssvs lqqgwvqgan glcsvdqgvq gsatsqfytm serlhpsdds ikviplttfa 1321 prqqarpsrg dspimethpl // LOCUS NP_001345347 464 aa linear PRI 20-AUG-2020 DEFINITION putative protein FAM90A26 [Homo sapiens]. ACCESSION NP_001345347 VERSION NP_001345347.1 DBSOURCE REFSEQ: accession NM_001358418.2 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC108519.4. 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. ##RefSeq-Attributes-START## 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="4" /map="4p16.1" Protein 1..464 /product="putative protein FAM90A26" /note="family with sequence similarity 90, member A26, pseudogene" /calculated_mol_wt=49752 Region <25..439 /region_name="Atrophin-1" /note="Atrophin-1 family; cl26464" /db_xref="CDD:331285" Region 41..76 /region_name="zf-CCHC_6" /note="Zinc knuckle; pfam15288" /db_xref="CDD:317662" CDS 1..464 /gene="FAM90A26" /gene_synonym="FAM90A26P" /coded_by="NM_001358418.2:57..1451" /db_xref="CCDS:CCDS87208.1" /db_xref="GeneID:100287045" /db_xref="HGNC:HGNC:43746" ORIGIN 1 mmacrdpkpg akrlvraqtl qkqrrapvgp rapppdeedp rlkckncgaf ghmarstrcp 61 mkcwkaalvp ptlgkkegke nlkpwkpqve anpgplnkdk gekeerprqq dpqrkallhi 121 fsgkppekpl pnrkgstess vylrvasgpm pvhttskrpr vdpvladrsa temsdrgsal 181 aslsplrkas lssssslgpk erqtgaaadi pqpavrhqgp epllvvkpth sspeggcrev 241 pqaaskthgl lqaispqaqd krpavtsqpc ppaathslgl gsnlsfgpga krpaqapiqa 301 clnfpkkprl gpfqipesai qggelgapey lqpppattel gpstspqmgr rtpaqvssvd 361 rqpphsrpcl ptaqactmsh hpatshdgaq plrvlfrrle ngrwssslla apsfhspekp 421 gaflaqsphv seksevprvr vppnvlyedl qvssssedsd sdle // LOCUS NP_112167 312 aa linear PRI 21-AUG-2020 DEFINITION olfactory receptor 2J2 [Homo sapiens]. ACCESSION NP_112167 VERSION NP_112167.2 DBSOURCE REFSEQ: accession NM_030905.3 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 312) AUTHORS St Pourcain B, Whitehouse AJ, Ang WQ, Warrington NM, Glessner JT, Wang K, Timpson NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding J, Hakonarson H, Pennell CE and Smith GD. TITLE Common variation contributes to the genetic architecture of social communication traits JOURNAL Mol Autism 4 (1), 34 (2013) PUBMED 24047820 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 312) 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) REFERENCE 3 (residues 1 to 312) 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 4 (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 5 (residues 1 to 312) AUTHORS Volz A, Ehlers A, Younger R, Forbes S, Trowsdale J, Schnorr D, Beck S and Ziegler A. TITLE Complex transcription and splicing of odorant receptor genes JOURNAL J. Biol. Chem. 278 (22), 19691-19701 (2003) PUBMED 12637542 REFERENCE 6 (residues 1 to 312) AUTHORS Glusman G, Yanai I, Rubin I and Lancet D. TITLE The complete human olfactory subgenome JOURNAL Genome Res. 11 (5), 685-702 (2001) PUBMED 11337468 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL645937.6. On Jul 24, 2007 this sequence version replaced NP_112167.1. 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## 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="6" /map="6p22.1" Protein 1..312 /product="olfactory receptor 2J2" /note="olfactory receptor OR6-19; olfactory receptor 6-8" /calculated_mol_wt=35187 Site 6 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O76002.1)" Region 27..295 /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 27..53 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:320613" Site 27..50 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O76002.1)" Site 59..80 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O76002.1)" Region 60..86 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320613" Site order(82,85..86,98..103,105..106,109,154,156..160,196, 199..201,203..205,207..208,253,256..257,259..260,263, 269..270,272..274,277,280..281) /site_type="other" /note="putative ligand binding pocket [chemical binding]" /db_xref="CDD:320613" Region 98..128 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320613" Site 102..121 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O76002.1)" Region 141..162 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320613" Site 141..159 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O76002.1)" Region 196..226 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320613" Site 197..220 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O76002.1)" Region 233..263 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320613" Site 238..260 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O76002.1)" Region 270..295 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320613" Site 274..293 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O76002.1)" CDS 1..312 /gene="OR2J2" /gene_synonym="dJ80I19.4; hs6M1-6; OR6-19; OR6-8; OR6.3.8; ORL684" /coded_by="NM_030905.3:217..1155" /db_xref="CCDS:CCDS43434.1" /db_xref="GeneID:26707" /db_xref="HGNC:HGNC:8260" ORIGIN 1 mmikknasse dffillgfsn wpqlevvlfv vilifylmtl tgnlfiiils yvdshlhtpm 61 yfflsnlsfl dlcyttssip qllvnlrgpe ktisyagcmv qlyfvlalgi tecvllvvms 121 ydryvavcrp lhytvlmhpr fchllvaasw vigftisalh ssftfwvplc ghrlvdhffc 181 evpallrlsc vdthaneltl mvmssifvli plililttyg aiaravlsmq sttglqkvfr 241 tcgahlmvvs lffipvmcmy lqppsenspd qgkfialfyt vvtpslnpli ytlrnkhvkg 301 aakrllgwew gk // LOCUS NP_001335002 75 aa linear PRI 21-AUG-2020 DEFINITION protein FAM236B isoform 2 [Homo sapiens]. ACCESSION NP_001335002 VERSION NP_001335002.1 DBSOURCE REFSEQ: accession NM_001348073.1 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 AC240504.3 and HY042459.1. ##Evidence-Data-START## Transcript exon combination :: HY229137.1, HY042459.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..75 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq13.1" Protein 1..75 /product="protein FAM236B isoform 2" /note="family with sequence similarity 235 member B; protein FAM236B" /calculated_mol_wt=8122 CDS 1..75 /gene="FAM236B" /coded_by="NM_001348073.1:101..328" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:100132304" /db_xref="HGNC:HGNC:52640" ORIGIN 1 miftpflppa dlnvkglqnd peewvavsda tedpsggtgl prepallrgs wrsrfqrala 61 cftkcfrggy ralgi // LOCUS NP_001274278 530 aa linear PRI 21-AUG-2020 DEFINITION zinc finger protein 852 [Homo sapiens]. ACCESSION NP_001274278 XP_003403812 XP_003960372 VERSION NP_001274278.1 DBSOURCE REFSEQ: accession NM_001287349.2 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 530) 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 REFERENCE 2 (residues 1 to 530) 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 AK296954.1 and AC099669.2. On or before Dec 12, 2013 this sequence version replaced XP_003403812.1, XP_003960372.1. 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 :: AK296954.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..530 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3p21.31" Protein 1..530 /product="zinc finger protein 852" /note="putative zinc finger protein 852" /calculated_mol_wt=60451 Region 8..47 /region_name="KRAB_A-box" /note="KRAB (Kruppel-associated box) domain -A box; cd07765" /db_xref="CDD:143639" Site 145 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q6ZMS4.4)" Region 156..514 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 161..181 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(161,164,177,181) /site_type="other" /note="Zn binding site [ion binding]" /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 177..198 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 189..209 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(189,192,205,209) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 202..226 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 217..237 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(217,220,233,237) /site_type="other" /note="Zn binding site [ion 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 261..282 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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" Region 299..321 /region_name="zf-C2H2" /note="Zinc finger, C2H2 type; pfam00096" /db_xref="CDD:278523" Region 301..321 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(301,304,317,321) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 313..338 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 329..349 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(329,332,345,349) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 342..366 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 357..377 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(357,360,373,377) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 370..392 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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 398..422 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 413..433 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(413,416,429,433) /site_type="other" /note="Zn binding site [ion binding]" /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 425..450 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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 453..477 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 469..489 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(469,472,485,489) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 482..506 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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" CDS 1..530 /gene="ZNF852" /coded_by="NM_001287349.2:143..1735" /db_xref="GeneID:285346" /db_xref="HGNC:HGNC:27713" ORIGIN 1 mvrpqdtvay edlsedytqk kwkglalsqr alhwnmmlen drsmaslgrn mmesseltpk 61 qeifkgsess nstsgglfgv vpggtetgdv cedtfkeleg qpsneegsrl esdfleiide 121 dkkkstkdry eeykeveehp plssspvehe gvlkgqksyr cdecgkafyw sshlighrri 181 htgekpyecn ecgktfrqts qlivhlrtht gekpyecsec gkayrhsshl iqhqrlhnge 241 kpykcnecak afnqssklfd hqrthtgekp yeckecgaaf srsknlvrhq flhtgkkpyk 301 cnecgrafcs nrnlidhqrt htgekpykcn ecgkafsrsk clirhqslht gekpykcsec 361 gkafnqisql veherihtge kpfkcsecgk afglskclir hqrlhtsekp ykcnecgksf 421 nqnsyliihq rihtgekpye cnecgkvfsy nsslmvhqrt htgekpykcn scgkafsdss 481 qltvhqrvht gekpyeciec gkafsqrstf nhhqrthage kpsglarsss // LOCUS NP_001004489 316 aa linear PRI 21-AUG-2020 DEFINITION olfactory receptor 2AG1 [Homo sapiens]. ACCESSION NP_001004489 XP_090203 VERSION NP_001004489.1 DBSOURCE REFSEQ: accession NM_001004489.3 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 316) 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 316) AUTHORS Dooley R, Baumgart S, Rasche S, Hatt H and Neuhaus EM. TITLE Olfactory receptor signaling is regulated by the post-synaptic density 95, Drosophila discs large, zona-occludens 1 (PDZ) scaffold multi-PDZ domain protein 1 JOURNAL FEBS J. 276 (24), 7279-7290 (2009) PUBMED 19909339 REFERENCE 3 (residues 1 to 316) AUTHORS Mashukova A, Spehr M, Hatt H and Neuhaus EM. TITLE Beta-arrestin2-mediated internalization of mammalian odorant receptors JOURNAL J. Neurosci. 26 (39), 9902-9912 (2006) PUBMED 17005854 REMARK GeneRIF: OR2AG1 binds beta-arrestin2 with high affinity and is internalized via a clathrin-dependent mechanism. REFERENCE 4 (residues 1 to 316) 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 5 (residues 1 to 316) AUTHORS Neuhaus EM, Mashukova A, Zhang W, Barbour J and Hatt H. TITLE A specific heat shock protein enhances the expression of mammalian olfactory receptor proteins JOURNAL Chem. Senses 31 (5), 445-452 (2006) PUBMED 16565291 REMARK GeneRIF: The Hsc70t helps expression of OR2AG1 in heterologous cell systems and helped the characterization of an 'orphan' human olfactory receptor. REFERENCE 6 (residues 1 to 316) 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 7 (residues 1 to 316) 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 8 (residues 1 to 316) AUTHORS Lane RP, Cutforth T, Young J, Athanasiou M, Friedman C, Rowen L, Evans G, Axel R, Hood L and Trask BJ. TITLE Genomic analysis of orthologous mouse and human olfactory receptor loci JOURNAL Proc. Natl. Acad. Sci. U.S.A. 98 (13), 7390-7395 (2001) PUBMED 11416212 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC087280.11. On Sep 18, 2004 this sequence version replaced XP_090203.1. 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. 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, Jul 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. CCDS Note: This olfactory receptor gene is a segregating pseudogene (PMID:22908908), where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele that is predicted to be non-functional. This CCDS is being retained because the Classifier for Olfactory Receptor Pseudogenes (CORP) predicts the reference genome allele to be functional. ##RefSeq-Attributes-START## polymorphic pseudogene :: PMID: 22908908 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..316 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11p15.4" Protein 1..316 /product="olfactory receptor 2AG1" /note="olfactory receptor, family 2, subfamily AG, member 3; olfactory receptor OR11-79; hT3 olfactory receptor; olfactory receptor 2AG3" /calculated_mol_wt=35139 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H205.2)" Site 19 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H205.2)" Site 26..49 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H205.2)" Region 34..305 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 42..290 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 58..79 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H205.2)" Site 101..120 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H205.2)" Site 140..158 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H205.2)" Site 196..219 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H205.2)" Site 237..259 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H205.2)" Site 273..292 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H205.2)" CDS 1..316 /gene="OR2AG1" /gene_synonym="OR11-79; OR2AG3" /coded_by="NM_001004489.3:473..1423" /db_xref="CCDS:CCDS31414.1" /db_xref="GeneID:144125" /db_xref="HGNC:HGNC:15142" ORIGIN 1 melwnftlgs gfilvgilnd sgspellcat itilyllali sngllllait mearlhmpmy 61 lllgqlslmd llftsvvtpk aladflrren tisfggcalq mflaltmgga edlllafmay 121 dryvaichpl tymtlmssra cwlmvatswi laslsaliyt vytmhypfcr aqeirhllce 181 iphllkvaca dtsryelmvy vmgvtflips laailasytq illtvlhmps negrkkalvt 241 csshltvvgm fygaatfmyv lpssfhstrq dniisvfyti vtpalnpliy slrnkevmra 301 lrrvlgkyml pahstl // LOCUS NP_115266 810 aa linear PRI 23-AUG-2020 DEFINITION protocadherin gamma-B1 isoform 2 precursor [Homo sapiens]. ACCESSION NP_115266 VERSION NP_115266.1 DBSOURCE REFSEQ: accession NM_032095.1 KEYWORDS RefSeq. SOURCE Homo 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 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 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 3 (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 4 (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 5 (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 AF152517.1. 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 :: BC103926.1, AF152517.1 [ECO:0000345] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..810 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q31.3" Protein 1..810 /product="protocadherin gamma-B1 isoform 2 precursor" /note="protocadherin gamma-B1" /calculated_mol_wt=84986 sig_peptide 1..28 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3205 mat_peptide 29..810 /product="protocadherin gamma-B1 isoform 2" /calculated_mol_wt=84986 Region 30..109 /region_name="Cadherin_2" /note="Cadherin-like; pfam08266" /db_xref="CDD:311943" Site 41 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9Y5G3.1)" Site 73 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9Y5G3.1)" Region 137..235 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(141..142,198,200,231,233..234) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 243..339 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(250..251,304,306,335,337..338) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Site 300 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9Y5G3.1)" Region 351..444 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(354..355,407,409,440,442..443) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Site 415 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9Y5G3.1)" Region 452..554 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(459..460,517,519,550,552..553) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Site 541 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9Y5G3.1)" Region 574..658 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Region 683..765 /region_name="Cadherin_C_2" /note="Cadherin cytoplasmic C-terminal; pfam16492" /db_xref="CDD:318652" Site 688..708 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9Y5G3.1)" CDS 1..810 /gene="PCDHGB1" /gene_synonym="PCDH-GAMMA-B1" /coded_by="NM_032095.1:1..2433" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS75330.1" /db_xref="GeneID:56104" /db_xref="HGNC:HGNC:8708" /db_xref="MIM:606299" ORIGIN 1 mqrareaemm ksqvlfpfll slfcgaisqq irytipeela ngsrvgklak dlglsvrelp 61 trklrvsaed yfnvslesgd llvngridre kicgrkleca lefetvaenp mnvfhvvvvi 121 qdindnaprf vakgidleic esalpgvkfs ldsaqdadve gnslklytin pnqyfslstk 181 espdgskypv lllekpldre hqsshrlilt amdggdppls gtthiwirvt dandnapvfs 241 qevyrvslqe nvpwgtsvlr vmatdqdegi naeityafln spistslfnl npntgdittn 301 gtldfeetsr yvlsveakdg gvhtahcnvq ieivdendna pevtfmsfsn qipedsdlgt 361 vialikvrdk dsgqngmvtc ytqeevpfkl estsknyykl viagalnreq tadynvtiia 421 tdkgkpalss rtsitlhisd indnapvfhq asyvvhvsen nppgasiaqv sasdpdlgpn 481 grvsysilas dleprellsy vsvspqsgvv faqrafdheq lrafeltlqa rdqgspalsa 541 nvslrvlvgd lndnaprvly palgpdgsal fdmvpraaep gylvtkvvav dadsghnawl 601 syhvlqasep glfslglrtg evrtaralgd rdaarqrllv avrdggqppl satatlhlif 661 adslqevlpd lsdrpepsdp qtelqfylvv alalisvlfl lavilaialr lrrsssldte 721 gcfqtglcsk sgpgvppnhs egtlpysynl ciashsakte fnslnltpem appqdllcdd 781 psmvvcasne dhkiaydpsl sshvsfckss // LOCUS NP_001094790 424 aa linear PRI 23-AUG-2020 DEFINITION serpin E3 isoform 2 precursor [Homo sapiens]. ACCESSION NP_001094790 XP_935296 XP_946775 VERSION NP_001094790.1 DBSOURCE REFSEQ: accession NM_001101320.1 KEYWORDS RefSeq. SOURCE Homo 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 Lopez S, Buil A, Souto JC, Casademont J, Martinez-Perez A, Almasy L and Soria JM. TITLE A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels JOURNAL Mitochondrion 18, 34-40 (2014) PUBMED 25240745 REFERENCE 2 (residues 1 to 424) 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, 22 (2013) PUBMED 24172014 REMARK Review article Publication Status: Online-Only REFERENCE 3 (residues 1 to 424) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL137780.10. On or before Sep 27, 2007 this sequence version replaced XP_935296.2, XP_946775.2. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA1968968 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..424 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="13" /map="13q14.3" Protein 1..424 /product="serpin E3 isoform 2 precursor" /note="nexin-related serine protease inhibitor; Serpin E3; serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3" /calculated_mol_wt=44700 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2281 Region 31..399 /region_name="SERPIN" /note="SERine Proteinase INhibitors (serpins) exhibit conformational polymorphism shifting from native to cleaved, latent, delta, or polymorphic forms. Many serpins, such as antitrypsin and antichymotrypsin, function as serine protease inhibitors which regulate...; cd00172" /db_xref="CDD:238101" Site 46 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A8MV23.2)" Site order(355..358,375..380) /site_type="other" /note="reactive center loop" /db_xref="CDD:238101" Site 369..370 /site_type="other" /note="Reactive bond. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A8MV23.2)" CDS 1..424 /gene="SERPINE3" /coded_by="NM_001101320.1:61..1335" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS53870.1" /db_xref="GeneID:647174" /db_xref="HGNC:HGNC:24774" ORIGIN 1 mppflitlfl fhscclrang hlregmtllk tefalhlyqs vaacrnetnf vispagvslp 61 leilqfgaeg stgqqladal gytvhdkrvk dflhavyatl ptssqgteme lacslfvqvg 121 tplspcfveh vswwanssle padlsepnst aiqtsegasr etagggpseg pggwpweqvs 181 aafaqlvlvs tmsfqgtwrk rfsstdtqil pftcayglvl qvpmmhqtte vnygqfqdta 241 ghqvgvlelp ylgsavslfl vlprdkdtpl shiephltas tihlwttslr rarmdvflpr 301 friqnqfnlk silnswgvtd lfdplkanlk gisgqdgfyv seaihkakie vleegtkasg 361 atallllkrs ripifkadrp fiyflrepnt gitvffdriq iiyqclssnk gsfvhyplkn 421 khsf // LOCUS NP_001071092 533 aa linear PRI 23-AUG-2020 DEFINITION zinc finger protein 846 isoform 1 [Homo sapiens]. ACCESSION NP_001071092 XP_001130932 XP_091914 VERSION NP_001071092.1 DBSOURCE REFSEQ: accession NM_001077624.2 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 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. 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 AC008752.6, AK097652.1, BC037359.1 and BC118657.1. On or before Nov 14, 2006 this sequence version replaced XP_001130932.1, XP_091914.5. ##Evidence-Data-START## Transcript exon combination :: BC118576.1, SRR1163655.420968.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on 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" /calculated_mol_wt=60421 Region 8..67 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 8..45 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" 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" Site order(200,203,216,220) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" 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 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 269..293 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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" 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 296..321 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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 328..347 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 338..360 /region_name="zf-C2H2" /note="Zinc finger, C2H2 type; pfam00096" /db_xref="CDD:278523" Region 340..360 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(340,343,356,360) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 352..377 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 368..388 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(368,371,384,388) /site_type="other" /note="Zn binding site [ion binding]" /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 381..405 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 396..416 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(396,399,412,416) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 408..433 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 424..444 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(424,427,440,444) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 437..461 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 452..472 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(452,455,468,472) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 464..489 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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 492..517 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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_001077624.2:536..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_001116434 342 aa linear PRI 23-AUG-2020 DEFINITION signal-regulatory protein beta-2 isoform 1 precursor [Homo sapiens]. ACCESSION NP_001116434 XP_001724827 XP_209363 XP_944990 VERSION NP_001116434.1 DBSOURCE REFSEQ: accession NM_001122962.2 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 342) AUTHORS Song Q, Qin S, Pascal LE, Zou C, Wang W, Tong H, Zhang J, Catalona WJ, Dhir R, Morrell M, Balasubramani GK, Lu Y and Wang Z. TITLE SIRPB1 promotes prostate cancer cell proliferation via Akt activation JOURNAL Prostate 80 (4), 352-364 (2020) PUBMED 31905248 REMARK GeneRIF: Results suggest that SIRPB1 is a potential oncogene capable of activating Akt signaling to stimulate prostate cancer proliferation and could be a biomarker for patients at risk of developing aggressive prostate cancer. REFERENCE 2 (residues 1 to 342) AUTHORS Reiner AP, Hartiala J, Zeller T, Bis JC, Dupuis J, Fornage M, Baumert J, Kleber ME, Wild PS, Baldus S, Bielinski SJ, Fontes JD, Illig T, Keating BJ, Lange LA, Ojeda F, Muller-Nurasyid M, Munzel TF, Psaty BM, Rice K, Rotter JI, Schnabel RB, Tang WH, Thorand B, Erdmann J, Jacobs DR Jr, Wilson JG, Koenig W, Tracy RP, Blankenberg S, Marz W, Gross MD, Benjamin EJ, Hazen SL and Allayee H. CONSRTM CARDIoGRAM Consortium TITLE Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia JOURNAL Hum. Mol. Genet. 22 (16), 3381-3393 (2013) PUBMED 23620142 REFERENCE 3 (residues 1 to 342) AUTHORS Nyati MK, Feng FY, Maheshwari D, Varambally S, Zielske SP, Ahsan A, Chun PY, Arora VA, Davis MA, Jung M, Ljungman M, Canman CE, Chinnaiyan AM and Lawrence TS. TITLE Ataxia telangiectasia mutated down-regulates phospho-extracellular signal-regulated kinase 1/2 via activation of MKP-1 in response to radiation JOURNAL Cancer Res. 66 (24), 11554-11559 (2006) PUBMED 17178844 REMARK GeneRIF: Relationship between ATM kinase and extracellular signal-regulated kinase 1/2 (ERK1/2), a key mitogenic stimulator. REFERENCE 4 (residues 1 to 342) AUTHORS Barclay AN and Brown MH. TITLE The SIRP family of receptors and immune regulation JOURNAL Nat. Rev. Immunol. 6 (6), 457-464 (2006) PUBMED 16691243 REMARK Review article REFERENCE 5 (residues 1 to 342) AUTHORS van den Berg TK, van Beek EM, Buhring HJ, Colonna M, Hamaguchi M, Howard CJ, Kasuga M, Liu Y, Matozaki T, Neel BG, Parkos CA, Sano S, Vignery A, Vivier E, Wright M, Zawatzky R and Barclay AN. TITLE A nomenclature for signal regulatory protein family members JOURNAL J. Immunol. 175 (12), 7788-7789 (2005) PUBMED 16339511 REFERENCE 6 (residues 1 to 342) 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 DC313096.1, AK095499.1, AY424277.1, DC358609.1, BM285394.1, AL109658.5 and BG539998.1. On or before Apr 3, 2008 this sequence version replaced XP_209363.5, XP_944990.1, XP_001724827.1. 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 extent of this transcript is supported by transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.132123.1, DRR138524.794375.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA2147920 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000359801.8/ ENSP00000352849.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..342 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20p13" Protein 1..342 /product="signal-regulatory protein beta-2 isoform 1 precursor" /note="protein tyrosine phosphatase, non-receptor type substrate 1-like 3; SIRP-beta-2; protein tyrosine phosphatase non-receptor type substrate protein" /calculated_mol_wt=33726 sig_peptide 1..32 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3260 Region 43..149 /region_name="V-set" /note="Immunoglobulin V-set domain; pfam07686" /db_xref="CDD:284989" Region 46..149 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" Site 116 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5JXA9.1)" Region 163..263 /region_name="V-set" /note="Immunoglobulin V-set domain; pfam07686" /db_xref="CDD:284989" Region 168..243 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" Site 179 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5JXA9.1)" Site 231 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q5JXA9.1)" Site 288..308 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q5JXA9.1)" CDS 1..342 /gene="SIRPB2" /gene_synonym="dJ776F14.2; PTPN1L; PTPNS1L3" /coded_by="NM_001122962.2:62..1090" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS42849.1" /db_xref="GeneID:284759" /db_xref="HGNC:HGNC:16247" ORIGIN 1 mcstmsaptc lahlppcfll lalvlvpsda sgqssrndwq vlqpegpmlv aegetlllrc 61 mvvgsctdgm ikwvkvstqd qqeiynfkrg sfpgvmpmiq rtseplncdy siyihnvtre 121 htgtyhcvrf dglsehsemk sdegtsvlvk gagdpepdlw iiqpqelvlg ttgdtvflnc 181 tvlgdgppgp irwfqgagls reaiynfggi shpketavqa snndfsillq nvssedagty 241 ycvkfqrkpn rqylsgqgts lkvkakstss keaeftsepa temsptgllv vfapvvlglk 301 aitlaallla latsrrspgq edvkttgpag amntlawskg qe // LOCUS NP_001128308 244 aa linear PRI 24-AUG-2020 DEFINITION signal-regulatory protein beta-2 isoform 2 precursor [Homo sapiens]. ACCESSION NP_001128308 VERSION NP_001128308.1 DBSOURCE REFSEQ: accession NM_001134836.2 KEYWORDS RefSeq. SOURCE Homo 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 Song Q, Qin S, Pascal LE, Zou C, Wang W, Tong H, Zhang J, Catalona WJ, Dhir R, Morrell M, Balasubramani GK, Lu Y and Wang Z. TITLE SIRPB1 promotes prostate cancer cell proliferation via Akt activation JOURNAL Prostate 80 (4), 352-364 (2020) PUBMED 31905248 REMARK GeneRIF: Results suggest that SIRPB1 is a potential oncogene capable of activating Akt signaling to stimulate prostate cancer proliferation and could be a biomarker for patients at risk of developing aggressive prostate cancer. REFERENCE 2 (residues 1 to 244) AUTHORS Reiner AP, Hartiala J, Zeller T, Bis JC, Dupuis J, Fornage M, Baumert J, Kleber ME, Wild PS, Baldus S, Bielinski SJ, Fontes JD, Illig T, Keating BJ, Lange LA, Ojeda F, Muller-Nurasyid M, Munzel TF, Psaty BM, Rice K, Rotter JI, Schnabel RB, Tang WH, Thorand B, Erdmann J, Jacobs DR Jr, Wilson JG, Koenig W, Tracy RP, Blankenberg S, Marz W, Gross MD, Benjamin EJ, Hazen SL and Allayee H. CONSRTM CARDIoGRAM Consortium TITLE Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia JOURNAL Hum. Mol. Genet. 22 (16), 3381-3393 (2013) PUBMED 23620142 REFERENCE 3 (residues 1 to 244) AUTHORS Nyati MK, Feng FY, Maheshwari D, Varambally S, Zielske SP, Ahsan A, Chun PY, Arora VA, Davis MA, Jung M, Ljungman M, Canman CE, Chinnaiyan AM and Lawrence TS. TITLE Ataxia telangiectasia mutated down-regulates phospho-extracellular signal-regulated kinase 1/2 via activation of MKP-1 in response to radiation JOURNAL Cancer Res. 66 (24), 11554-11559 (2006) PUBMED 17178844 REMARK GeneRIF: Relationship between ATM kinase and extracellular signal-regulated kinase 1/2 (ERK1/2), a key mitogenic stimulator. REFERENCE 4 (residues 1 to 244) AUTHORS Barclay AN and Brown MH. TITLE The SIRP family of receptors and immune regulation JOURNAL Nat. Rev. Immunol. 6 (6), 457-464 (2006) PUBMED 16691243 REMARK Review article REFERENCE 5 (residues 1 to 244) AUTHORS van den Berg TK, van Beek EM, Buhring HJ, Colonna M, Hamaguchi M, Howard CJ, Kasuga M, Liu Y, Matozaki T, Neel BG, Parkos CA, Sano S, Vignery A, Vivier E, Wright M, Zawatzky R and Barclay AN. TITLE A nomenclature for signal regulatory protein family members JOURNAL J. Immunol. 175 (12), 7788-7789 (2005) PUBMED 16339511 REFERENCE 6 (residues 1 to 244) 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 AK297072.1, AL109658.5 and AK095499.1. Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to version 1, that results in a shorter protein (isoform 2) that lacks one of two immunoglobulin domains, when 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 extent of this transcript is supported by transcript alignments. ##Evidence-Data-START## Transcript exon combination :: DRR138517.485708.1, DRR138517.1079173.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA2147920 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..244 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20p13" Protein 1..244 /product="signal-regulatory protein beta-2 isoform 2 precursor" /note="protein tyrosine phosphatase, non-receptor type substrate 1-like 3; SIRP-beta-2; protein tyrosine phosphatase non-receptor type substrate protein" /calculated_mol_wt=22596 sig_peptide 1..32 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=3260 Region 65..165 /region_name="V-set" /note="Immunoglobulin V-set domain; pfam07686" /db_xref="CDD:284989" Region 70..145 /region_name="IG_like" /note="Immunoglobulin like; smart00410" /db_xref="CDD:214653" CDS 1..244 /gene="SIRPB2" /gene_synonym="dJ776F14.2; PTPN1L; PTPNS1L3" /coded_by="NM_001134836.2:62..796" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS46570.1" /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 tslkvkakst sskeaeftse 181 patemsptgl lvvfapvvlg lkaitlaall lalatsrrsp gqedvkttgp agamntlaws 241 kgqe // LOCUS NP_001373304 404 aa linear PRI 29-AUG-2020 DEFINITION serpin E3 isoform 1 precursor [Homo sapiens]. ACCESSION NP_001373304 VERSION NP_001373304.1 DBSOURCE REFSEQ: accession NM_001386375.1 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 404) AUTHORS Lopez S, Buil A, Souto JC, Casademont J, Martinez-Perez A, Almasy L and Soria JM. TITLE A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels JOURNAL Mitochondrion 18, 34-40 (2014) PUBMED 25240745 REFERENCE 2 (residues 1 to 404) 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, 22 (2013) PUBMED 24172014 REMARK Review article Publication Status: Online-Only REFERENCE 3 (residues 1 to 404) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL137780.10. 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## CDS exon combination :: AM402969.1 [ECO:0000331] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..404 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="13" /map="13q14.3" Protein 1..404 /product="serpin E3 isoform 1 precursor" /note="nexin-related serine protease inhibitor; Serpin E3; serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3" /calculated_mol_wt=42219 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2281 Site 46 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A8MV23.2)" Site 369..370 /site_type="other" /note="Reactive bond. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A8MV23.2)" CDS 1..404 /gene="SERPINE3" /coded_by="NM_001386375.1:149..1363" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="GeneID:647174" /db_xref="HGNC:HGNC:24774" ORIGIN 1 mppflitlfl fhscclrang hlregmtllk tefalhlyqs vaacrnetnf vispagvslp 61 leilqfgaeg stgqqladal gytvhdkrvk dflhavyatl ptssqgteme lacslfvqvg 121 tplspcfveh vswwanssle padlsepnst aiqtsegasr etagggpseg pggwpweqvs 181 aafaqlvlvs tmsfqgtwrk rfsstdtqil pftcayglvl qvpmmhqtte vnygqfqdta 241 ghqvgvlelp ylgsavslfl vlprdkdtpl shiephltas tihlwttslr rarmdvflpr 301 friqnqfnlk silnswgvtd lfdplkanlk gisgqdgfyv seaihkakie vleegtkasg 361 atallllkrs ripifkadrp fiyflrepnt gfvfsigrvs npld // LOCUS NP_001245377 602 aa linear PRI 29-AUG-2020 DEFINITION polycystic kidney disease 2-like 2 protein isoform 2 [Homo sapiens]. ACCESSION NP_001245377 VERSION NP_001245377.1 DBSOURCE REFSEQ: accession NM_001258448.2 KEYWORDS RefSeq. SOURCE Homo 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 Li Q, Liu Y, Zhao W and Chen XZ. TITLE The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation JOURNAL FEBS Lett. 516 (1-3), 270-278 (2002) PUBMED 11959145 REFERENCE 2 (residues 1 to 602) AUTHORS Stayner,C. and Zhou,J. TITLE Polycystin channels and kidney disease JOURNAL Trends Pharmacol. Sci. 22 (11), 543-546 (2001) PUBMED 11698076 REFERENCE 3 (residues 1 to 602) AUTHORS Guo L, Schreiber TH, Weremowicz S, Morton CC, Lee C and Zhou J. TITLE Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: sequence, expression, alternative splicing, and chromosomal localization JOURNAL Genomics 64 (3), 241-251 (2000) PUBMED 10756092 REFERENCE 4 (residues 1 to 602) AUTHORS Veldhuisen B, Spruit L, Dauwerse HG, Breuning MH and Peters DJ. TITLE Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2) JOURNAL Eur. J. Hum. Genet. 7 (8), 860-872 (1999) PUBMED 10602361 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC106791.4, AK301924.1, BG719682.1 and AC106753.3. Transcript Variant: This variant (2) has an alternate in-frame splice site in the central coding region and an additional exon in the 3' region, which results in an alternate translation stop codon, compared to variant 1. The resulting isoform (2) is shorter; it lacks an internal segment 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 :: AK301924.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..602 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q31.2" Protein 1..602 /product="polycystic kidney disease 2-like 2 protein isoform 2" /note="polycystin-L2; polycystin-2L2; polycystic kidney disease 2-like 2 protein; transient receptor potential cation channel subfamily P member 5" /calculated_mol_wt=71125 Region 76..475 /region_name="PKD_channel" /note="Polycystin cation channel; cl27887" /db_xref="CDD:332708" CDS 1..602 /gene="PKD2L2" /gene_synonym="TRPP5" /coded_by="NM_001258448.2:36..1844" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS58972.1" /db_xref="GeneID:27039" /db_xref="HGNC:HGNC:9012" /db_xref="MIM:604669" ORIGIN 1 maeasrwhrg gaskhklhyr keveitttlq elllyfifli nlciltfgmv nphmyylnkv 61 msslfldtsv pgeertnfks irsitdfwkf megpllegly wdswynnqql ynlknssriy 121 yenillgvpr vrqlkvrnnt ckvyssfqsl msecygkyts anedlsnfgl qintewryst 181 sntnspwhwg flgvyrnggy iftlskskse tknkfidlrl nswitrgtrv ifidfslyna 241 nvnlfciirl vaefpatggi ltswqfysvk llryvsyydy fiasceitfc iflfvfttqe 301 vkkikefksa yfksiwnwle lllllllkst ekysdfyfla cwhiyynnii aitiffawik 361 ifkfisfnkt msqlsstlsr cvkdivgfai mffiiffaya qlgflvfgsq vddfstfqns 421 ifaqfrivlg dfnfagiqqa npilgpiyfi tfiffvffvl lnmflaiind tysevkadys 481 igrrldfelg kmikqsyknv lekfrlkkaq kdedkktkgs gdlaeqarre gfdeneiqna 541 eqmkkwkerl ekkyysmeiq ddyqpvtqee frelflyave lekelhyinl klnqvvrkvs 601 al // LOCUS NP_689418 839 aa linear PRI 30-AUG-2020 DEFINITION taste receptor type 1 member 2 precursor [Homo sapiens]. ACCESSION NP_689418 XP_944007 VERSION NP_689418.2 DBSOURCE REFSEQ: accession NM_152232.4 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 839) AUTHORS Ben Shoshan-Galeczki Y and Niv MY. TITLE Structure-based screening for discovery of sweet compounds JOURNAL Food Chem 315, 126286 (2020) PUBMED 32018080 REMARK GeneRIF: create several models of the orthosteric binding site of the sweet taste receptor in the hT1R2 VFT domain REFERENCE 2 (residues 1 to 839) AUTHORS Perez-Aguilar JM, Kang SG, Zhang L and Zhou R. TITLE Modeling and Structural Characterization of the Sweet Taste Receptor Heterodimer JOURNAL ACS Chem Neurosci 10 (11), 4579-4592 (2019) PUBMED 31553164 REMARK GeneRIF: Modeling and Structural Characterization of the Sweet Taste Receptor Heterodimer. REFERENCE 3 (residues 1 to 839) AUTHORS Park J, Selvam B, Sanematsu K, Shigemura N, Shukla D and Procko E. TITLE Structural architecture of a dimeric class C GPCR based on co-trafficking of sweet taste receptor subunits JOURNAL J. Biol. Chem. 294 (13), 4759-4774 (2019) PUBMED 30723160 REMARK GeneRIF: The data further reveal that the C terminus of the extracellular cysteine-rich domain needs to be properly folded for T1R3 dimerization and co-trafficking, but not for surface expression of T1R2 alone. These results guided the modeling of the T1R2-T1R3 dimer in living cells. REFERENCE 4 (residues 1 to 839) AUTHORS Chandrashekar J, Hoon MA, Ryba NJ and Zuker CS. TITLE The receptors and cells for mammalian taste JOURNAL Nature 444 (7117), 288-294 (2006) PUBMED 17108952 REMARK Review article REFERENCE 5 (residues 1 to 839) AUTHORS Galindo-Cuspinera V, Winnig M, Bufe B, Meyerhof W and Breslin PA. TITLE A TAS1R receptor-based explanation of sweet 'water-taste' JOURNAL Nature 441 (7091), 354-357 (2006) PUBMED 16633339 REMARK GeneRIF: water rinses remove the inhibitor from the heteromeric sweetener receptor TAS1R2-TAS1R3, which activates cells and results in the perception of strong sweetness from pure water REFERENCE 6 (residues 1 to 839) AUTHORS Zhao GQ, Zhang Y, Hoon MA, Chandrashekar J, Erlenbach I, Ryba NJ and Zuker CS. TITLE The receptors for mammalian sweet and umami taste JOURNAL Cell 115 (3), 255-266 (2003) PUBMED 14636554 REMARK GeneRIF: sweet and umami taste are strictly dependent on T1R-receptors, and show that selective elimination of T1R-subunits differentially abolishes detection and perception of these two taste modalities REFERENCE 7 (residues 1 to 839) AUTHORS Spadaccini R, Trabucco F, Saviano G, Picone D, Crescenzi O, Tancredi T and Temussi PA. TITLE The mechanism of interaction of sweet proteins with the T1R2-T1R3 receptor: evidence from the solution structure of G16A-MNEI JOURNAL J. Mol. Biol. 328 (3), 683-692 (2003) PUBMED 12706725 REMARK GeneRIF: The mechanism of interaction of the sweet protein monellin with the T1R2-T1R3 receptor. REFERENCE 8 (residues 1 to 839) AUTHORS Liao J and Schultz PG. TITLE Three sweet receptor genes are clustered in human chromosome 1 JOURNAL Mamm. Genome 14 (5), 291-301 (2003) PUBMED 12856281 REFERENCE 9 (residues 1 to 839) 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 10 (residues 1 to 839) AUTHORS Hoon MA, Adler E, Lindemeier J, Battey JF, Ryba NJ and Zuker CS. TITLE Putative mammalian taste receptors: a class of taste-specific GPCRs with distinct topographic selectivity JOURNAL Cell 96 (4), 541-551 (1999) PUBMED 10052456 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BX537160.6 and AL831755.9. On Aug 18, 2006 this sequence version replaced NP_689418.1. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BK000151.1 [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..839 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.13" Protein 1..839 /product="taste receptor type 1 member 2 precursor" /note="taste receptor, type 1, member 2; sweet taste receptor T1R2; G-protein coupled receptor 71" /calculated_mol_wt=93051 sig_peptide 1..19 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" /calculated_mol_wt=2151 mat_peptide 20..839 /product="Taste receptor type 1 member 2. /id=PRO_0000012957" /note="propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" /calculated_mol_wt=93051 Region 27..484 /region_name="PBP1_Taste_receptor" /note="Ligand-binding domain of the T1R taste receptor; cd06363" /db_xref="CDD:107358" Site order(67,165..166,384) /site_type="other" /note="putative ligand-binding site [chemical binding]" /db_xref="CDD:107358" Region 70..454 /region_name="ANF_receptor" /note="Receptor family ligand binding region; pfam01094" /db_xref="CDD:279440" Site 84 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" Site order(105,108,152,239) /site_type="other" /note="putative dimerization interface [polypeptide binding]" /db_xref="CDD:107358" Site 248 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" Site 292 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" Site 312 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" Site 368 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" Site 428 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" Site 487 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" Region 493..543 /region_name="NCD3G" /note="Nine Cysteines Domain of family 3 GPCR; pfam07562" /db_xref="CDD:284890" Site 527 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" Site 567..587 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" Region 577..814 /region_name="7tm_3" /note="7 transmembrane sweet-taste receptor of 3 GCPR; pfam00003" /db_xref="CDD:278433" Site 603..623 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" Site 636..656 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" Site 682..702 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" Site 728..748 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" Site 761..781 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" Site 785..805 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8TE23.2)" CDS 1..839 /gene="TAS1R2" /gene_synonym="GPR71; T1R2; TR2" /coded_by="NM_152232.4:1..2520" /db_xref="CCDS:CCDS187.1" /db_xref="GeneID:80834" /db_xref="HGNC:HGNC:14905" /db_xref="MIM:606226" ORIGIN 1 mgpraktiss lffllwvlae paensdfylp gdyllgglfs lhanmkgivh lnflqvpmck 61 eyevkvigyn lmqamrfave einndssllp gvllgyeivd vcyisnnvqp vlyflahedn 121 llpiqedysn yisrvvavig pdnsesvmtv anflslfllp qitysaisde lrdkvrfpal 181 lrttpsadhh ieamvqlmlh frwnwiivlv ssdtygrdng qllgervarr diciafqetl 241 ptlqpnqnmt seerqrlvti vdklqqstar vvvvfspdlt lyhffnevlr qnftgavwia 301 seswaidpvl hnltelrhlg tflgitiqsv pipgfsefre wgpqagpppl srtsqsytcn 361 qecdnclnat lsfntilrls gervvysvys avyavahalh sllgcdkstc tkrvvypwql 421 leeiwkvnft lldhqiffdp qgdvalhlei vqwqwdrsqn pfqsvasyyp lqrqlkniqd 481 iswhtinnti pmsmcskrcq sgqkkkpvgi hvccfecidc lpgtflnhte deyecqacpn 541 newsyqsets cfkrqlvfle wheaptiava llaalgflst lailvifwrh fqtpivrsag 601 gpmcflmltl llvaymvvpv yvgppkvstc lcrqalfplc fticisciav rsfqivcafk 661 masrfprays ywvryqgpyv smafitvlkm vivvigmlat glspttrtdp ddpkitivsc 721 npnyrnsllf ntsldlllsv vgfsfaymgk elptnyneak fitlsmtfyf tssvslctfm 781 saysgvlvti vdllvtvlnl laislgyfgp kcymilfype rntpayfnsm iqgytmrrd // LOCUS NP_775949 845 aa linear PRI 30-AUG-2020 DEFINITION TRPM8 channel-associated factor 2 isoform A [Homo sapiens]. ACCESSION NP_775949 XP_947189 XP_950789 VERSION NP_775949.2 DBSOURCE REFSEQ: accession NM_173678.3 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 845) AUTHORS Gkika D, Lemonnier L, Shapovalov G, Gordienko D, Poux C, Bernardini M, Bokhobza A, Bidaux G, Degerny C, Verreman K, Guarmit B, Benahmed M, de Launoit Y, Bindels RJ, Fiorio Pla A and Prevarskaya N. TITLE TRP channel-associated factors are a novel protein family that regulates TRPM8 trafficking and activity JOURNAL J. Cell Biol. 208 (1), 89-107 (2015) PUBMED 25559186 REMARK GeneRIF: Report novel TRP channel-associated factors that modulate TRPM8 activity. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC113530.1, AC106862.3 and AL832734.1. On Jul 11, 2008 this sequence version replaced NP_775949.1. 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 the full extent of the RefSeq transcript. The extent of this transcript is supported by transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR7410571.152360.1, BC113530.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..845 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q35" Protein 1..845 /product="TRPM8 channel-associated factor 2 isoform A" /note="family with sequence similarity 139, member A; family with sequence similarity 115, member C; protein FAM115C; TRP channel-associated factor 2" /calculated_mol_wt=91877 Region 520..835 /region_name="Peptidase_M60" /note="Peptidase M60, enhancin and enhancin-like; pfam13402" /db_xref="CDD:290138" CDS 1..845 /gene="TCAF2" /gene_synonym="FAM115C; FAM139A; GATD9" /coded_by="NM_173678.3:52..2589" /note="isoform A is encoded by transcript variant 2" /db_xref="CCDS:CCDS34769.1" /db_xref="GeneID:285966" /db_xref="HGNC:HGNC:26878" /db_xref="MIM:616252" ORIGIN 1 matiaaaafe almdgvtcwd vprgpipsel lligeaafpv mvndkgqvli aassygrgrl 61 vvvshegyls htglapflln avswlcpcpg apvgvhpsla plvnilqdag leaqvkpepg 121 eplgvycina yndtltatli qfvkhgggll iggqawywas qhgpdkvlsr fpgnkvtsva 181 gvyftdtygd rdrfkvskkv pkiplhvryg edvrqdqqql legiseldir tggvpsqllv 241 hgalafplgl daslncflaa ahygrgrvvl aahecllcap kmgpfllnav rwlargqtgk 301 vgvntnlkdl cpllsehglq cslephlnsd lcvycckays dkeakqlqef vaegggllig 361 gqawwwasqn pghcplagfp gniilncfgl silpqtlkag cfpvptpemr syhfrkalsq 421 fqailnheng nleksclakl rvdgaaflqi paegvpayis lhrllrkmlr gsglpavsre 481 npvasdsyea avlslatgla hsgtdcsqla qglgtwtcss slypskhpit veinginpgn 541 ndcwvstgly llegqnaevs lseaaasagl rvqigchtdd ltkarklsra pvvthqcwmd 601 rtersvsclw ggllyvivpk gsqlgpvpvt irgavpapyy klgktsleew krqmqenlap 661 wgelatdnii ltvpttnlqa lkdpepvlrl wdemmqavar laaepfpfrr perivadvqi 721 sagwmhsgyp imchlesvke iinemdmrsr gvwgpihelg hnqqrhgwef pphtteatcn 781 lwsvyvhetv lgipraqahe alsppererr ikahlgkgap lcdwnvwtal etylqvlsrn 841 sgrrg // LOCUS NP_008920 803 aa linear PRI 30-AUG-2020 DEFINITION ras GTPase-activating protein 4 isoform 1 [Homo sapiens]. ACCESSION NP_008920 XP_941357 VERSION NP_008920.5 DBSOURCE REFSEQ: accession NM_006989.6 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 803) AUTHORS Poetsch AR, Lipka DB, Witte T, Claus R, Nollke P, Zucknick M, Olk-Batz C, Fluhr S, Dworzak M, De Moerloose B, Stary J, Zecca M, Hasle H, Schmugge M, van den Heuvel-Eibrink MM, Locatelli F, Niemeyer CM, Flotho C and Plass C. TITLE RASA4 undergoes DNA hypermethylation in resistant juvenile myelomonocytic leukemia JOURNAL Epigenetics 9 (9), 1252-1260 (2014) PUBMED 25147919 REMARK GeneRIF: RASA4 isoform 2 promoter methylation correlated with clinical parameters predicting poor prognosis (older age, elevated fetal hemoglobin), with higher risk of relapse after hematopoietic stem cell transplantation, and with PTPN11 mutation. REFERENCE 2 (residues 1 to 803) AUTHORS Dai Y, Walker SA, de Vet E, Cook S, Welch HC and Lockyer PJ. TITLE Ca2+-dependent monomer and dimer formation switches CAPRI Protein between Ras GTPase-activating protein (GAP) and RapGAP activities JOURNAL J. Biol. Chem. 286 (22), 19905-19916 (2011) PUBMED 21460216 REMARK GeneRIF: Ca2+-dependent monomer and dimer formation switches CAPRI Protein between Ras GTPase-activating protein (GAP) and RapGAP activities REFERENCE 3 (residues 1 to 803) AUTHORS Liu Q, Walker SA, Gao D, Taylor JA, Dai YF, Arkell RS, Bootman MD, Roderick HL, Cullen PJ and Lockyer PJ. TITLE CAPRI and RASAL impose different modes of information processing on Ras due to contrasting temporal filtering of Ca2+ JOURNAL J. Cell Biol. 170 (2), 183-190 (2005) PUBMED 16009725 REMARK GeneRIF: CAPRI seems to low-pass filter the Ca2+ signal, converting different intensities of stimulation into different durations of Ras activity. REFERENCE 4 (residues 1 to 803) AUTHORS Bivona TG, Perez De Castro I, Ahearn IM, Grana TM, Chiu VK, Lockyer PJ, Cullen PJ, Pellicer A, Cox AD and Philips MR. TITLE Phospholipase Cgamma activates Ras on the Golgi apparatus by means of RasGRP1 JOURNAL Nature 424 (6949), 694-698 (2003) PUBMED 12845332 REFERENCE 5 (residues 1 to 803) AUTHORS Minagawa T, Fukuda M and Mikoshiba K. TITLE Distinct phosphoinositide binding specificity of the GAP1 family proteins: characterization of the pleckstrin homology domains of MRASAL and KIAA0538 JOURNAL Biochem. Biophys. Res. Commun. 288 (1), 87-90 (2001) PUBMED 11594756 REFERENCE 6 (residues 1 to 803) AUTHORS Lockyer PJ, Kupzig S and Cullen PJ. TITLE CAPRI regulates Ca(2+)-dependent inactivation of the Ras-MAPK pathway JOURNAL Curr. Biol. 11 (12), 981-986 (2001) PUBMED 11448776 REMARK GeneRIF: CAPRI (Ca2+-promoted Ras inactivator) a Ca2+-dependent Ras GTPase-activating protein (Ras GAP). Switches off the Ras-MAPK pathway following G protein-coupled receptor stimulated intracellular Ca2+ elevation that recruits CAPRI to the plasma membrane. COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC105052.3 and AC093668.4. On Jun 30, 2010 this sequence version replaced NP_008920.4. Summary: This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular Ca(2+) levels result in the translocation of this protein to the plasma membrane, where it activates Ras GTPase activity. Consequently, Ras is converted from the active GTP-bound state to the inactive GDP-bound state and no longer activates downstream pathways that regulate gene expression, cell growth, and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [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 :: AB011110.2, BC110873.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000262940.12/ ENSP00000262940.8 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..803 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q22.1" Protein 1..803 /product="ras GTPase-activating protein 4 isoform 1" /note="Ca2+-promoted Ras inactivator; calcium-promoted Ras inactivator; Ras GTPase-activating protein 4; rasGAP-activating-like protein 2" /calculated_mol_wt=90327 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 244..605 /region_name="RasGAP" /note="GTPase-activator protein for Ras-like GTPases; smart00323" /db_xref="CDD:214617" 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 567..672 /region_name="PH" /note="PH domain; pfam00169" /db_xref="CDD:278594" Region 681..709 /region_name="BTK" /note="BTK motif; pfam00779" /db_xref="CDD:279161" CDS 1..803 /gene="RASA4" /gene_synonym="CAPRI; GAPL" /coded_by="NM_006989.6:68..2479" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS5725.1" /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 tgqgcdktrs rvtlqewndp 721 ldhdleaqli yrhllgveam lwerhrelsg gaeagtvpts pgkvpedsla rllrvlqdlr 781 eahssspags ppsepnclle lqt // LOCUS NP_001107013 1347 aa linear PRI 30-AUG-2020 DEFINITION spermatogenesis-associated protein 31A5 [Homo sapiens]. ACCESSION NP_001107013 XP_001715128 XP_001715135 XP_001715145 VERSION NP_001107013.1 DBSOURCE REFSEQ: accession NM_001113541.3 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 1347) AUTHORS Zuo Y, Gao J, Yeung WS and Lee KF. TITLE The testis-specific VAD1.3/AEP1 interacts with beta-actin and syntaxin 1 and directs peri-nuclear/Golgi expression with bipartite nucleus localization (BNL) sequence JOURNAL Biochem. Biophys. Res. Commun. 401 (2), 275-280 (2010) PUBMED 20850414 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL590491.13. On or before Mar 29, 2008 this sequence version replaced XP_001715128.1, XP_001715135.1, XP_001715145.1. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000437823.5/ ENSP00000485628.1 RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1347 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q12" Protein 1..1347 /product="spermatogenesis-associated protein 31A5" /note="family with sequence similarity 75, member A5; protein FAM75A5" /calculated_mol_wt=148556 Site 23..43 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q5VU36.1)" Region 76..155 /region_name="DUF4599" /note="Domain of unknown function (DUF4599); pfam15371" /db_xref="CDD:292015" Region 396..754 /region_name="FAM75" /note="FAM75 family; pfam14650" /db_xref="CDD:291323" CDS 1..1347 /gene="SPATA31A5" /gene_synonym="FAM75A5" /coded_by="NM_001113541.3:30..4073" /db_xref="CCDS:CCDS47970.1" /db_xref="GeneID:727905" /db_xref="HGNC:HGNC:32005" ORIGIN 1 menlpfplkl lsasslnaps stpwvldifl tlvfalgfff lllpylsyfr cddppspspg 61 krkcpvgrrr rprgrmknhs lragrecrrg leetsdllsq lqsllgphld kgdfgqlsgp 121 dppgevgera pdgasqsshe pmedaapils plaspdpqak hpqdlastps pgpmttsvss 181 lsasqppeps lplehpspep palfphppht pdplacslpp pkgftapplr dstlitpshc 241 dsvafplgtv pqslsphedl vasvpaisgl ggsnshvsas srwqetarts cafnssvqqd 301 hlsrhppetc qmeagslfll ssdgqnvvgi qvtetakvni weekenvgsf tnrmtpekhl 361 nslrnlaksl daeqdttnpk pfwnmgensk qlpgpqklsd prlwqesfwk nysqlfwglp 421 slhseslvan awvtdrsytl qsppflfnem snvcpiqret tmspllfqaq plshlgpecq 481 pfisstpqfr ptpmaqaeaq ahlqssfpvl spafpsliqn tgvacpasqn kvqalslpet 541 qhpewpllrr qlegrlalps rvqksqdvfs vstpnlpqes ltsilpenfp vspelrrqle 601 qhikkwiiqh wgnlgriqes ldlmqlrdes pgtsqakgkp spwqssmstg egskeaqkvk 661 fqlerdpcph lgqilgetpq nlsrdmksfp rkvlgvtsee lernlrkplr sdsgsdllrc 721 terthienil kahmgrnlgq tneglipvcv rrswlavnqa lpvsnthvkt snlaapksgk 781 acvntaqvls flepctqqgl gahivrfwak hrwglplrvl kpiqcfklek vsslsltqla 841 gpssatcesg agsevevdmf lrkppmaslr kqvltkasdh mpesllassp awkqfqrapr 901 gipswndhep lkpppagqeg rwpskpltys ltgsiqqsrs lgaqsskage treavpqcrv 961 pletcmlanl qatsedvhgf eapgtskssl hprvsvsqdp rklclmeevv nefepgmatk 1021 setqpqvcaa vvllpdgqas vvphasenlv sqvpqghlqs mptgnmrasq elhdlmaarr 1081 sklvheeprn pncqgscksq rpmfppihks eksrkpnlek heerleglrt pqltpvrkte 1141 dthqdegvql lpskkqppsv spfgenikqi fqwifskkks kpapvtaesq ktvknrsrvy 1201 sssaeaqglm tavgqmldek mslcharhas kvnqhkqkfq apvcgfpcnh rhlfysehgr 1261 ilsyaassqq atlksqgcpn rdrqirnqqp lksvrcnneq wglrhpqilh pkkavspvsp 1321 pqhwpktsga sshhhhcprh cllwegi // LOCUS NP_001075155 154 aa linear PRI 30-AUG-2020 DEFINITION glucose-6-phosphatase 2 isoform 2 [Homo sapiens]. ACCESSION NP_001075155 VERSION NP_001075155.1 DBSOURCE REFSEQ: accession NM_001081686.2 KEYWORDS RefSeq. SOURCE Homo 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 Zhou W, Li Y, Zhang L, Shi Y, Wang C, Zhang D, Liu X, Mao Z and Li L. TITLE Gene-gene interactions lead to higher risk for development of type 2 diabetes in a Chinese Han population: a prospective nested case-control study JOURNAL Lipids Health Dis 17 (1), 179 (2018) PUBMED 30055620 REMARK GeneRIF: The results suggest that the GCKR and G6PC2 genes may contribute to the risk of type 2 diabetes independently and/or in an interactive manner in the Han Chinese population. Publication Status: Online-Only REFERENCE 2 (residues 1 to 154) AUTHORS Ivarsdottir EV, Steinthorsdottir V, Daneshpour MS, Thorleifsson G, Sulem P, Holm H, Sigurdsson S, Hreidarsson AB, Sigurdsson G, Bjarnason R, Thorsson AV, Benediktsson R, Eyjolfsson G, Sigurdardottir O, Olafsson I, Zeinali S, Azizi F, Thorsteinsdottir U, Gudbjartsson DF and Stefansson K. TITLE Effect of sequence variants on variance in glucose levels predicts type 2 diabetes risk and accounts for heritability JOURNAL Nat. Genet. 49 (9), 1398-1402 (2017) PUBMED 28783164 REMARK GeneRIF: The variant in TCF7L2 that increases fasting glucose levels increases between-subject variance, whereas variants in GCK and G6PC2 that increase fasting glucose levels decrease between-subject variance. REFERENCE 3 (residues 1 to 154) AUTHORS Shi Y, Li Y, Wang J, Wang C, Fan J, Zhao J, Yin L, Liu X, Zhang D and Li L. TITLE Meta-analyses of the association of G6PC2 allele variants with elevated fasting glucose and type 2 diabetes JOURNAL PLoS ONE 12 (7), e0181232 (2017) PUBMED 28704540 REMARK GeneRIF: All three allele variants of G6PC2 (rs560887, rs16856187 and rs573225) are associated with elevated fasting glucose, with two variants (rs560887 in the Caucasians subgroup and rs16856187 under the allele and dominant model) being associated with T2 diabetes as well.[meta-analysis] Publication Status: Online-Only REFERENCE 4 (residues 1 to 154) AUTHORS Boortz KA, Syring KE, Pound LD, Wang Y, Oeser JK and O'Brien RM. TITLE Functional Analysis of Mouse G6pc1 Mutations Using a Novel In Situ Assay for Glucose-6-Phosphatase Activity and the Effect of Mutations in Conserved Human G6PC1/G6PC2 Amino Acids on G6PC2 Protein Expression JOURNAL PLoS ONE 11 (9), e0162439 (2016) PUBMED 27611587 REMARK GeneRIF: these studies identify multiple G6PC2 variants that have the potential to be associated with altered FBG in humans. Publication Status: Online-Only REFERENCE 5 (residues 1 to 154) AUTHORS Chujo D, Nguyen TS, Foucat E, Blankenship D, Banchereau J, Nepom GT, Chaussabel D and Ueno H. TITLE Adult-onset type 1 diabetes patients display decreased IGRP-specific Tr1 cells in blood JOURNAL Clin. Immunol. 161 (2), 270-277 (2015) PUBMED 26341315 REMARK GeneRIF: Data suggest that islet-specific glucose 6 phosphatase catalytic subunit-related protein (IGRP)-specific CD4(+) helper T (Th) cells play a unique pathogenic role in adult-onset T1D (AT1D). REFERENCE 6 (residues 1 to 154) AUTHORS Shieh JJ, Pan CJ, Mansfield BC and Chou JY. TITLE In islet-specific glucose-6-phosphatase-related protein, the beta cell antigenic sequence that is targeted in diabetes is not responsible for the loss of phosphohydrolase activity JOURNAL Diabetologia 48 (9), 1851-1859 (2005) PUBMED 16012821 REMARK GeneRIF: Alpha mutants containing the beta cell antigen sequence are preferentially degraded in cells, which prevents targeting by pathogenic CD8+ T cells implying that IGRP levels in beta cells could dictate susceptibilities to diabetes. REFERENCE 7 (residues 1 to 154) AUTHORS Petrolonis AJ, Yang Q, Tummino PJ, Fish SM, Prack AE, Jain S, Parsons TF, Li P, Dales NA, Ge L, Langston SP, Schuller AG, An WF, Tartaglia LA, Chen H and Hong SB. TITLE Enzymatic characterization of the pancreatic islet-specific glucose-6-phosphatase-related protein (IGRP) JOURNAL J. Biol. Chem. 279 (14), 13976-13983 (2004) PUBMED 14722102 REMARK GeneRIF: IGRP is likely the authentic islet-specific glucose-6-phosphatase catalytic subunit, and selective inhibitors to this molecule can be obtained REFERENCE 8 (residues 1 to 154) AUTHORS Shieh JJ, Pan CJ, Mansfield BC and Chou JY. TITLE The islet-specific glucose-6-phosphatase-related protein, implicated in diabetes, is a glycoprotein embedded in the endoplasmic reticulum membrane JOURNAL FEBS Lett. 562 (1-3), 160-164 (2004) PUBMED 15044018 REMARK GeneRIF: Data show that islet-specific glucose-6-phosphatase-related protein is an endoplasmic reticulum membrane glycoprotein, and is degraded through the proteasome pathway that generates the major histocompatibility complex class I-presented peptides. REFERENCE 9 (residues 1 to 154) AUTHORS Lieberman SM, Evans AM, Han B, Takaki T, Vinnitskaya Y, Caldwell JA, Serreze DV, Shabanowitz J, Hunt DF, Nathenson SG, Santamaria P and DiLorenzo TP. TITLE Identification of the beta cell antigen targeted by a prevalent population of pathogenic CD8+ T cells in autoimmune diabetes JOURNAL Proc. Natl. Acad. Sci. U.S.A. 100 (14), 8384-8388 (2003) PUBMED 12815107 REFERENCE 10 (residues 1 to 154) AUTHORS Martin CC, Bischof LJ, Bergman B, Hornbuckle LA, Hilliker C, Frigeri C, Wahl D, Svitek CA, Wong R, Goldman JK, Oeser JK, Lepretre F, Froguel P, O'Brien RM and Hutton JC. TITLE Cloning and characterization of the human and rat islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP) genes JOURNAL J. Biol. Chem. 276 (27), 25197-25207 (2001) PUBMED 11297555 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC104778.1, BQ268961.1, CR627438.1, AC069137.6 and CA865646.1. Summary: This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (2) lacks an exon in the 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 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 :: AL711489.1, BQ777188.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2151405, SAMEA2153347 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..154 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q31.1" Protein 1..154 /product="glucose-6-phosphatase 2 isoform 2" /EC_number="3.1.3.9" /note="islet-specific glucose-6-phosphatase catalytic subunit-related protein; glucose-6-phosphatase, catalytic, 2; islet-specific G6CP-related protein; G6Pase 2; G-6-Pase 2; islet-specific glucose-6-phosphatase-related protein; glucose-6-phosphatase 2" /calculated_mol_wt=17625 Site 25..45 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NQR9.1)" Region 38..>140 /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:294324" Site 57..77 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NQR9.1)" Site 92 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:15044018; propagated from UniProtKB/Swiss-Prot (Q9NQR9.1)" Site 116..136 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9NQR9.1)" CDS 1..154 /gene="G6PC2" /gene_synonym="IGRP" /coded_by="NM_001081686.2:42..506" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS46443.1" /db_xref="GeneID:57818" /db_xref="HGNC:HGNC:28906" /db_xref="MIM:608058" ORIGIN 1 mdflhrngvl iiqhlqkdyr ayytflnfms nvgdprniff iyfplcfqfn qtvgtkmiwv 61 avigdwlnli fkwilfghrp ywwvqetqiy pnhsspcleq fpttcetgpg spsghamgas 121 cvwyvmvtaa lshtvcgmdk fsitlhrhag grgl // LOCUS NP_778234 336 aa linear PRI 30-AUG-2020 DEFINITION putative WBSCR19-like protein 6 isoform 2 [Homo sapiens]. ACCESSION NP_778234 XP_943541 XP_948772 XP_948775 XP_948777 XP_948781 XP_948785 VERSION NP_778234.2 DBSOURCE REFSEQ: accession NM_175064.4 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 336) 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 336) 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 or before Mar 4, 2006 this sequence version replaced XP_943541.1, XP_948772.1, XP_948775.1, XP_948777.1, XP_948781.1, XP_948785.1, NP_778234.1. 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]. ##Evidence-Data-START## Transcript exon combination :: AF412027.1, AL137266.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..336 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7p13" Protein 1..336 /product="putative WBSCR19-like protein 6 isoform 2" /note="Speedy E; speedy homolog E1; williams-Beuren syndrome chromosomal region 19 protein; Williams Beuren syndrome chromosome region 19 protein; speedy protein E1; putative WBSCR19-like protein 6" /calculated_mol_wt=40537 Region 153..332 /region_name="Spy1" /note="Cell cycle regulatory protein; pfam11357" /db_xref="CDD:288249" CDS 1..336 /gene="SPDYE1" /gene_synonym="Ringo1; SPDYB2L2; SPDYE; WBSCR19" /coded_by="NM_175064.4:87..1097" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS5475.1" /db_xref="GeneID:285955" /db_xref="HGNC:HGNC:16408" /db_xref="MIM:617623" ORIGIN 1 mqkhytvawf lysapgvdps ppcrslgwkr krewsdesee epekelapep eetwvvetlc 61 glkmklkqqr vspillehhk dfnsqlapgv dpspphrsfc wkrkmewwdk seeseeeprk 121 vlapepeeiw vaemlcglkm klkrrrvslv lpehheafnr lledpvikrf lawdkdlrvs 181 dkyllamvia yfsragfpsw qyqrlhffla lylandmeed dedskqnifh flygknrsri 241 pllrkrrfql yrsmnprark nrshiplvrk rrfqlrrcmn prarknrsqi vlfqkrrfhf 301 fcsmscrawv speeleeiqa ydpehwvwar drarls // LOCUS NP_001358183 547 aa linear PRI 30-AUG-2020 DEFINITION acyl-coenzyme A oxidase-like protein isoform 3 [Homo sapiens]. ACCESSION NP_001358183 XP_011509718 VERSION NP_001358183.1 DBSOURCE REFSEQ: accession NM_001371254.1 KEYWORDS RefSeq. SOURCE Homo 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 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 547) 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 547) 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 547) 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 547) 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 547) AUTHORS Yu XQ, Li M, Zhang H, Low HQ, Wei X, Wang JQ, Sun LD, Sim KS, Li Y, Foo JN, Wang W, Li ZJ, Yin XY, Tang XQ, Fan L, Chen J, Li RS, Wan JX, Liu ZS, Lou TQ, Zhu L, Huang XJ, Zhang XJ, Liu ZH and Liu JJ. TITLE A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy JOURNAL Nat. Genet. 44 (2), 178-182 (2011) PUBMED 22197929 REMARK Publication Status: Online-Only REFERENCE 7 (residues 1 to 547) 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 8 (residues 1 to 547) 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 9 (residues 1 to 547) 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 547) 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 AC114776.3, AC096591.1, AC023131.8 and AC096670.1. On Jul 3, 2019 this sequence version replaced XP_011509718.1. 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. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..547 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q13" Protein 1..547 /product="acyl-coenzyme A oxidase-like protein isoform 3" /note="acyl-CoA oxidase-like protein; acyl-coenzyme A oxidase-like protein" /calculated_mol_wt=61665 Region 2..544 /region_name="ACAD" /note="Acyl-CoA dehydrogenase; cl09933" /db_xref="CDD:385640" Site order(60,90,92,130,132,373..375,377,379) /site_type="active" /db_xref="CDD:173838" CDS 1..547 /gene="ACOXL" /coded_by="NM_001371254.1:225..1868" /note="isoform 3 is encoded by transcript variant 3" /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 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 irnqerc // LOCUS NP_001139693 340 aa linear PRI 30-AUG-2020 DEFINITION MANSC domain-containing protein 4 precursor [Homo sapiens]. ACCESSION NP_001139693 XP_001724902 VERSION NP_001139693.1 DBSOURCE REFSEQ: accession NM_001146221.5 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 340) 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 AC009511.16 and AC009509.7. On Apr 3, 2009 this sequence version replaced XP_001724902.1. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000381273.4/ ENSP00000370673.3 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..340 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12p11.22" Protein 1..340 /product="MANSC domain-containing protein 4 precursor" /note="MANSC domain-containing protein ENSP00000370673; MANSC domain-containing protein 4" /calculated_mol_wt=35308 sig_peptide 1..24 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2589 Region 29..117 /region_name="MANEC" /note="The MANEC domain, formerly called MANSC; smart00765" /db_xref="CDD:129004" Site 118 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A6NHS7.3)" Site 187 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A6NHS7.3)" Site 260 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (A6NHS7.3)" Site 285..305 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A6NHS7.3)" CDS 1..340 /gene="MANSC4" /coded_by="NM_001146221.5:334..1356" /db_xref="CCDS:CCDS53770.1" /db_xref="GeneID:100287284" /db_xref="HGNC:HGNC:40023" ORIGIN 1 mhvaevavnv illlsmgwts dslcsptify rdcwirrfpg llinleesqk lgaqflkyys 61 estgqkcsrs cclrkdvscn lavfyhspih dninclhvhc ptlescilep gtsailynit 121 dgidpdllvf eqsptylntr sssnrwdrlr ilkamnldkq tttingmlps teapsstthq 181 dlvvntnsts yskelttdfw arftslnesi ttkinkvsps tdfisnpdnk tispffepid 241 tklshmpvpp glnsskqlln ktkgynsrnh tsanedevsv tsktwlvsva lctsviflgc 301 civilasgcc gkqqgqykpg qrksgslqik nrnhmkenss // LOCUS NP_001036171 112 aa linear PRI 30-AUG-2020 DEFINITION IQ domain-containing protein J isoform CaMBPv2 [Homo sapiens]. ACCESSION NP_001036171 VERSION NP_001036171.1 DBSOURCE REFSEQ: accession NM_001042706.3 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 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), E257 (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 2 (residues 1 to 112) 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 3 (residues 1 to 112) 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 4 (residues 1 to 112) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA305468.1 and DQ309554.1. Transcript Variant: This variant (2) uses an alternate 3' exon and thereby differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (CaMBPv2) has a distinct and shorter C-terminus, compared to isoform CaMBPv1. ##Evidence-Data-START## Transcript exon combination :: DQ309554.1, DA178041.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..112 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q25.32" Protein 1..112 /product="IQ domain-containing protein J isoform CaMBPv2" /note="calmodulin binding protein; IQ domain-containing protein J" /calculated_mol_wt=12789 Region 4..>112 /region_name="IQCJ-SCHIP1" /note="Fusion protein IQCJ-SCHIP1 with IQ-like motif; pfam15157" /db_xref="CDD:317561" CDS 1..112 /gene="IQCJ" /coded_by="NM_001042706.3:115..453" /note="isoform CaMBPv2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS46947.1" /db_xref="GeneID:654502" /db_xref="HGNC:HGNC:32406" /db_xref="MIM:611622" ORIGIN 1 mrleelkrlq npleqvndgk ysfenhqlam daenniekyp lnlqpleskv kiiqrawrey 61 lqrqeplgkr spsppsvsse klsssvsmnt fsdsstpvsv mflflcpdlt fn // LOCUS NP_001005217 278 aa linear PRI 30-AUG-2020 DEFINITION protein FRG2 isoform 2 [Homo sapiens]. ACCESSION NP_001005217 NP_001186161 XP_002343930 VERSION NP_001005217.1 DBSOURCE REFSEQ: accession NM_001005217.4 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 Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B and van der Maarel SM. TITLE Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2 JOURNAL Hum. Mol. Genet. 24 (3), 659-669 (2015) PUBMED 25256356 REMARK GeneRIF: Study showed that the variability in clinical severity of facioscapulohumeral muscular dystrophy in FSHD1 and FSHD2 individuals is dependent on individual differences in susceptibility to D4Z4 hypomethylation. REFERENCE 2 (residues 1 to 278) AUTHORS Cheli S, Francois S, Bodega B, Ferrari F, Tenedini E, Roncaglia E, Ferrari S, Ginelli E and Meneveri R. TITLE Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns JOURNAL PLoS ONE 6 (6), e20966 (2011) PUBMED 21695143 REMARK GeneRIF: new insights into the gene deregulation characterizing both FSHD-1 and FSHD-2, in which miRNAs may play a role REFERENCE 3 (residues 1 to 278) AUTHORS de Greef JC, Lemmers RJ, Camano P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM and Tawil R. TITLE Clinical features of facioscapulohumeral muscular dystrophy 2 JOURNAL Neurology 75 (17), 1548-1554 (2010) PUBMED 20975055 REMARK GeneRIF: Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process. REFERENCE 4 (residues 1 to 278) AUTHORS Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR and van der Maarel SM. TITLE FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients JOURNAL J. Med. Genet. 41 (11), 826-836 (2004) PUBMED 15520407 REMARK GeneRIF: FRG2 is upregulated in differentiating myoblast cultures of autosomal dominant facioscapulohumeral muscular dystrophy patients. REFERENCE 5 (residues 1 to 278) AUTHORS Gabellini D, Green MR and Tupler R. TITLE Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle JOURNAL Cell 110 (3), 339-348 (2002) PUBMED 12176321 REFERENCE 6 (residues 1 to 278) AUTHORS van Geel M, Dickson MC, Beck AF, Bolland DJ, Frants RR, van der Maarel SM, de Jong PJ and Hewitt JE. TITLE Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin JOURNAL Genomics 79 (2), 210-217 (2002) PUBMED 11829491 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AF146191.1. On May 9, 2014 this sequence version replaced NP_001186161.1. ##Evidence-Data-START## Transcript exon combination :: AY714545.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..278 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q35.2" Protein 1..278 /product="protein FRG2 isoform 2" /note="FSHD region gene 2 protein; protein FRG2" /calculated_mol_wt=30359 Region 61..241 /region_name="FRG2" /note="Facioscapulohumeral muscular dystrophy candidate 2; pfam15315" /db_xref="CDD:291961" CDS 1..278 /gene="FRG2" /gene_synonym="FRG2A" /coded_by="NM_001005217.4:53..889" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS34123.1" /db_xref="GeneID:448831" /db_xref="HGNC:HGNC:19136" /db_xref="MIM:609032" ORIGIN 1 mgkgnedsdl hcssiqcstd qppfqqisft ekgsdekkpf kekgktafsh ssekhiqrqg 61 sepnpnkens eetklkagns tagsepesss yrencrkrkm sskdscqdta gncpekecsl 121 slnkksrsst avhnseiqet cdahhrghsr actghskrhr sralgvqtps irkslvtsvr 181 amseavyqdl aqvwaqqihs pltceqltll trlrgplcaq vqtlysmatq aayvfpaesw 241 lvpatlpgpg esaldreahp fpgqeitetv sgsdeakl // LOCUS NP_001164212 741 aa linear PRI 30-AUG-2020 DEFINITION NUT family member 2G isoform 2 [Homo sapiens]. ACCESSION NP_001164212 VERSION NP_001164212.1 DBSOURCE REFSEQ: accession NM_001170741.3 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 741) 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 AL158827.27. Sequence Note:. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000372322.4/ ENSP00000361397.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..741 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q22.33" Protein 1..741 /product="NUT family member 2G isoform 2" /note="family with sequence similarity 22, pseudogene; family with sequence similarity 22, member G; protein FAM22G" /calculated_mol_wt=78880 Region 14..728 /region_name="NUT" /note="NUT protein; pfam12881" /db_xref="CDD:289637" CDS 1..741 /gene="NUTM2G" /gene_synonym="FAM22G; NUTMG" /coded_by="NM_001170741.3:183..2408" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS55329.1" /db_xref="GeneID:441457" /db_xref="HGNC:HGNC:23449" ORIGIN 1 masngaypvl gpgvtvnpgt slsvftalpf atpspgpthr pplvtavvpp agplvlsafp 61 stplvagqdg rgpsgagasn vfvqmrtevg pvkppqaqtl iltqaplvwq apgtlcggvm 121 cppplllaaa pgvpvtsaqv vggtqacegg wshglplppp ppaaqvapiv spgnagpwpq 181 gahgegslap sqakarpdds ckpksvyenf rlwqhykpla rrhlpqspdt ealscflipv 241 lrslarrkpt mtleeglwra mrewqhtsnf drmifyemaa kflefeaeee mqiqksqwmk 301 gpqslpppap prleprgppa pevvkqpvyl pskdgpkapt aclppprpqr paetkahlpp 361 prpprpaetk vpeeippevv qeyvdimeel lgshpgdtge pegqrekgkv eqpqeedgmt 421 sdpgllsyid klcsqedfvt kveavihprf leellspdpq mdflalsqel eqeegltlaq 481 lvekrllslk ekgcgraapr hgtarldssp sefaagqeaa revpdpqqrv svetsppqta 541 aqdpqgqgrv rtgmarsedp avllgcqdsp rlkavrptsp pqdhrptcpg lgtkdalglp 601 gespvkeshg lakgsseete lpgmvyvvgs hhrlrpwrls qspvpssgll spggrgpqga 661 lqspsaqkrg lspspspask skkrplfgsp spaektphpg pglrvsgeqs lawglggpsq 721 sqkrkgdpla srrkkkrhcs q // LOCUS NP_001244897 1036 aa linear PRI 30-AUG-2020 DEFINITION protein ITPRID1 isoform 3 [Homo sapiens]. ACCESSION NP_001244897 VERSION NP_001244897.2 DBSOURCE REFSEQ: accession NM_001257968.3 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 1036) AUTHORS Zuo X, Sun L, Yin X, Gao J, Sheng Y, Xu J, Zhang J, He C, Qiu Y, Wen G, Tian H, Zheng X, Liu S, Wang W, Li W, Cheng Y, Liu L, Chang Y, Wang Z, Li Z, Li L, Wu J, Fang L, Shen C, Zhou F, Liang B, Chen G, Li H, Cui Y, Xu A, Yang X, Hao F, Xu L, Fan X, Li Y, Wu R, Wang X, Liu X, Zheng M, Song S, Ji B, Fang H, Yu J, Sun Y, Hui Y, Zhang F, Yang R, Yang S and Zhang X. TITLE Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis JOURNAL Nat Commun 6, 6793 (2015) PUBMED 25854761 REMARK Erratum:[Nat Commun. 2018 Mar 13;9:16186. PMID: 29532793] Publication Status: Online-Only REFERENCE 2 (residues 1 to 1036) AUTHORS Opherk C, Gonik M, Duering M, Malik R, Jouvent E, Herve D, Adib-Samii P, Bevan S, Pianese L, Silvestri S, Dotti MT, De Stefano N, Liem M, Boon EM, Pescini F, Pachai C, Bracoud L, Muller-Myhsok B, Meitinger T, Rost N, Pantoni L, Lesnik Oberstein S, Federico A, Ragno M, Markus HS, Tournier-Lasserve E, Rosand J, Chabriat H and Dichgans M. TITLE Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL JOURNAL Stroke 45 (4), 968-972 (2014) PUBMED 24578207 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC006044.2. On Apr 24, 2020 this sequence version replaced NP_001244897.1. Sequence Note:. ##Evidence-Data-START## Transcript exon combination :: AK295011.1 [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..1036 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7p14.3" Protein 1..1036 /product="protein ITPRID1 isoform 3" /note="coiled-coil domain containing 129; coiled-coil domain-containing protein 129; ITPR-interacting domain-containing protein 1; protein ITPRID1" /calculated_mol_wt=114744 CDS 1..1036 /gene="ITPRID1" /gene_synonym="CCDC129" /coded_by="NM_001257968.3:91..3201" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS59050.1" /db_xref="GeneID:223075" /db_xref="HGNC:HGNC:27363" ORIGIN 1 mmaqksqgsd nlqegqeksk reilkctksa wapldewlpp dpeeesqslt ipmledskqe 61 siqqwldsgf fvsanenfqq vidrtvslye qgmvqmtvkd ymrslhqfse tpilsrgtsf 121 nscystasvp qsipewlefw eidpveilld lgfgadepdi cmqiparflg cgsaargini 181 rvfleaqkqr mdienpnlyg rfrqleildh vtnafsslls dvsilpnrae ekaggesvqr 241 tsvsaakehr rrmgkllrra skqnirrdcn pevsesfkvk devfvpftkp wdcgaelaat 301 sinhkqnhls lsvehqslqa cddllpypph gllskqwpcs smpakqapps cvsegsvkgr 361 tqkenlfqtn klkslshlag kgpdsfemee vqsfeeetgn pldmtsgtvg arvdranscq 421 sdssgfleep leplplqmps lpnsqspaen ggrkprdqsh slvssqdcql esdgpdsksr 481 asmsfssqea naleqrasvs vmeeefllea megppelyip dmacaktttr gecprkdshl 541 wqllpmphae yevtrptats kydhplgfmv thvtemqdsf vrpegagkvq shhnesqrsp 601 gndhtqdkfl hvdseapree essgfcphtn hsllvpesss qcipkhseit pyatdlaqts 661 ekliphlhkl pgdpaqvksr sgtlgqilpg teaemenlpl ntgssrsvmt qmssslvsaa 721 qravalgtgp rgtslectvc dpvtatetrl gtkarqlnda siqtsalsnk tlthgpqplt 781 ksvsldsgfs sicpmgtcha ipahccicch hhphchgerq spgpepsvcr hclcsltghq 841 eaqfmttlka lqdttvrelc sctvhemeam kticqsfrey leeieqhlmg qqalfsrdms 901 eeereeaeql qtlrealrqq vaelefqlgd raqqiregil lqlevltaep pehysnlhqy 961 nwieesngqt scskihpgma prtvfppddg qeapcsgell saeldpfffs skannsakde 1021 kikskdflkt qdsgll // LOCUS NP_653328 182 aa linear PRI 30-AUG-2020 DEFINITION gamma-crystallin N isoform a [Homo sapiens]. ACCESSION NP_653328 VERSION NP_653328.1 DBSOURCE REFSEQ: accession NM_144727.3 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 182) AUTHORS Breton CV, Siegmund KD, Joubert BR, Wang X, Qui W, Carey V, Nystad W, Haberg SE, Ober C, Nicolae D, Barnes KC, Martinez F, Liu A, Lemanske R, Strunk R, Weiss S, London S, Gilliland F and Raby B. CONSRTM Asthma BRIDGE consortium TITLE Prenatal tobacco smoke exposure is associated with childhood DNA CpG methylation JOURNAL PLoS ONE 9 (6), e99716 (2014) PUBMED 24964093 REMARK Erratum:[PLoS One. 2014;9(10):e112422] Publication Status: Online-Only REFERENCE 2 (residues 1 to 182) AUTHORS Graw J. TITLE Genetics of crystallins: cataract and beyond JOURNAL Exp. Eye Res. 88 (2), 173-189 (2009) PUBMED 19007775 REMARK Review article REFERENCE 3 (residues 1 to 182) 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 4 (residues 1 to 182) AUTHORS Wistow G, Wyatt K, David L, Gao C, Bateman O, Bernstein S, Tomarev S, Segovia L, Slingsby C and Vihtelic T. TITLE gammaN-crystallin and the evolution of the betagamma-crystallin superfamily in vertebrates JOURNAL FEBS J. 272 (9), 2276-2291 (2005) PUBMED 15853812 REMARK GeneRIF: gammaN-crystallin represents an intermediate in the evolution of beta and gamma crystallins. Crygn is expressed in mice and other species but may be a pseudogene in humans. COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC005996.2. Summary: This gene encodes a member of the crystallin family of proteins that are localized to the refractive structure of vertebrate eye lenses. The protein encoded by this gene is unique in that it has both beta and gamma crystallin protein motifs. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]. Transcript Variant: This variant (1) encodes the longer isoform (a). ##Evidence-Data-START## Transcript exon combination :: AF445455.1, BC100881.2 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000337323.3/ ENSP00000338613.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..182 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q36.1" Protein 1..182 /product="gamma-crystallin N isoform a" /note="gammaN-crystallin; gamma-N-crystallin; gamma-crystallin N" /calculated_mol_wt=20493 Region 7..88 /region_name="Crystall" /note="Beta/Gamma crystallin; pfam00030" /db_xref="CDD:306528" Region 96..>136 /region_name="Crystall" /note="Beta/Gamma crystallin; cl02528" /db_xref="CDD:321972" CDS 1..182 /gene="CRYGN" /coded_by="NM_144727.3:225..773" /note="isoform a is encoded by transcript variant 1" /db_xref="CCDS:CCDS5926.1" /db_xref="GeneID:155051" /db_xref="HGNC:HGNC:20458" /db_xref="MIM:609603" ORIGIN 1 maqrsgkitl yegkhftgqk levfgdcdnf qdrgfmnrvn sihvesgawv cfnhpdfrgq 61 qfilehgdyp dffrwnshsd hmgscrpvgm hgehfrleif egcnftgqcl efledspflq 121 srgwvkncvn tikvygdgaa wsprsfgaed fqlssslqsd qgpeeattkp attqppflta 181 nl // LOCUS NP_001245378 523 aa linear PRI 30-AUG-2020 DEFINITION polycystic kidney disease 2-like 2 protein isoform 3 [Homo sapiens]. ACCESSION NP_001245378 VERSION NP_001245378.1 DBSOURCE REFSEQ: accession NM_001258449.2 KEYWORDS RefSeq. SOURCE Homo 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 Li Q, Liu Y, Zhao W and Chen XZ. TITLE The calcium-binding EF-hand in polycystin-L is not a domain for channel activation and ensuing inactivation JOURNAL FEBS Lett. 516 (1-3), 270-278 (2002) PUBMED 11959145 REFERENCE 2 (residues 1 to 523) AUTHORS Stayner,C. and Zhou,J. TITLE Polycystin channels and kidney disease JOURNAL Trends Pharmacol. Sci. 22 (11), 543-546 (2001) PUBMED 11698076 REFERENCE 3 (residues 1 to 523) AUTHORS Guo L, Schreiber TH, Weremowicz S, Morton CC, Lee C and Zhou J. TITLE Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: sequence, expression, alternative splicing, and chromosomal localization JOURNAL Genomics 64 (3), 241-251 (2000) PUBMED 10756092 REFERENCE 4 (residues 1 to 523) AUTHORS Veldhuisen B, Spruit L, Dauwerse HG, Breuning MH and Peters DJ. TITLE Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2) JOURNAL Eur. J. Hum. Genet. 7 (8), 860-872 (1999) PUBMED 10602361 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC044581.1 and AC106753.3. Transcript Variant: This variant (3) lacks two alternate in-frame exons in the central coding region, contains an alternate segment in the 3' region, which results in an alternate translation stop codon, compared to variant 1. The resulting isoform (3) is shorter; it lacks an internal segment and has a distinct C-terminus compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: BC044581.1 [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="5" /map="5q31.2" Protein 1..523 /product="polycystic kidney disease 2-like 2 protein isoform 3" /note="polycystin-L2; polycystin-2L2; polycystic kidney disease 2-like 2 protein; transient receptor potential cation channel subfamily P member 5" /calculated_mol_wt=62085 Region 76..>382 /region_name="PKD_channel" /note="Polycystin cation channel; cl27887" /db_xref="CDD:332708" CDS 1..523 /gene="PKD2L2" /gene_synonym="TRPP5" /coded_by="NM_001258449.2:36..1607" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS58971.1" /db_xref="GeneID:27039" /db_xref="HGNC:HGNC:9012" /db_xref="MIM:604669" ORIGIN 1 maeasrwhrg gaskhklhyr keveitttlq elllyfifli nlciltfgmv nphmyylnkv 61 msslfldtsv pgeertnfks irsitdfwkf megpllegly wdswynnqql ynlknssriy 121 yenillgvpr vrqlkvrnnt ckvyssfqsl msecygkyts anedlsnfgl qintewryst 181 sntnspwhwg flgvyrnggy iftlskskse tknkfidlrl nswitrgtrv ifidfslyna 241 nvnlfciirl vaefpatggi ltswqfysvk llryvsyydy fiasceitfc iflfvfttqe 301 vkkikefksa yfksiwnwle llllllcfva vsfntyynvq iflllgqllk stekysdfyf 361 lacwhiyynn iiaitiffaw iknmflaiin dtysevkady sigrrldfel gkmikqsykn 421 vlekfrlkka qkdedkktkg sgdlaeqarr egfdeneiqn aeqmkkwker lekkyysmei 481 qddyqpvtqe efrelflyav elekelhyin lklnqvvrkv sal // LOCUS NP_848586 253 aa linear PRI 30-AUG-2020 DEFINITION peptidase inhibitor R3HDML precursor [Homo sapiens]. ACCESSION NP_848586 VERSION NP_848586.1 DBSOURCE REFSEQ: accession NM_178491.4 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 Cho YS, Chen CH, Hu C, Long J, Ong RT, Sim X, Takeuchi F, Wu Y, Go MJ, Yamauchi T, Chang YC, Kwak SH, Ma RC, Yamamoto K, Adair LS, Aung T, Cai Q, Chang LC, Chen YT, Gao Y, Hu FB, Kim HL, Kim S, Kim YJ, Lee JJ, Lee NR, Li Y, Liu JJ, Lu W, Nakamura J, Nakashima E, Ng DP, Tay WT, Tsai FJ, Wong TY, Yokota M, Zheng W, Zhang R, Wang C, So WY, Ohnaka K, Ikegami H, Hara K, Cho YM, Cho NH, Chang TJ, Bao Y, Hedman AK, Morris AP, McCarthy MI, Takayanagi R, Park KS, Jia W, Chuang LM, Chan JC, Maeda S, Kadowaki T, Lee JY, Wu JY, Teo YY, Tai ES, Shu XO, Mohlke KL, Kato N, Han BG and Seielstad M. CONSRTM DIAGRAM Consortium; MuTHER Consortium TITLE Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians JOURNAL Nat. Genet. 44 (1), 67-72 (2011) PUBMED 22158537 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 253) AUTHORS Bigdeli TB, Maher BS, Zhao Z, Oord EJ, Thiselton DL, Sun J, Webb BT, Amdur RL, Wormley B, O'Neill FA, Walsh D, Riley BP, Kendler KS and Fanous AH. TITLE Comprehensive gene-based association study of a chromosome 20 linked region implicates novel risk loci for depressive symptoms in psychotic illness JOURNAL PLoS ONE 6 (12), e21440 (2011) PUBMED 22220189 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL117382.28. ##Evidence-Data-START## Transcript exon combination :: BC107048.2 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000217043.4/ ENSP00000217043.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..253 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20q13.12" Protein 1..253 /product="peptidase inhibitor R3HDML precursor" /note="cysteine-rich secretory protein R3HDML; peptidase inhibitor R3HDML" /calculated_mol_wt=26296 sig_peptide 1..23 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2327 Region 65..207 /region_name="SCP" /note="SCP: SCP-like extracellular protein domain, found in eukaryotes and prokaryotes. This family includes plant pathogenesis-related protein 1 (PR-1), which accumulates after infections with pathogens, and may act as an anti-fungal agent or be involved in...; cl00133" /db_xref="CDD:320774" Site 120 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H3Y0.1)" CDS 1..253 /gene="R3HDML" /gene_synonym="dJ881L22.3" /coded_by="NM_178491.4:116..877" /db_xref="CCDS:CCDS13329.1" /db_xref="GeneID:140902" /db_xref="HGNC:HGNC:16249" ORIGIN 1 mpllpstvgl agllfwagqa vnalimpnat papaqpesta mrllsglevp ryrrkrhisv 61 rdmnalldyh nhirasvypp aanmeymvwd krlaraaeaw atqciwahgp sqlmryvgqn 121 lsihsgqyrs vvdlmkswse ekwhylfpap rdcnphcpwr cdgptcshyt qmvwassnrl 181 gcaihtcssi svwgntwhra aylvcnyaik gnwigespyk mgkpcsscpp syqgscnsnm 241 cfkglksnkf twf // LOCUS NP_001365352 376 aa linear PRI 30-AUG-2020 DEFINITION putative WBSCR19-like protein 6 isoform 1 [Homo sapiens]. ACCESSION NP_001365352 XP_005249776 VERSION NP_001365352.1 DBSOURCE REFSEQ: accession NM_001378423.1 KEYWORDS RefSeq. SOURCE Homo 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). FEATURES Location/Qualifiers source 1..376 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7p13" Protein 1..376 /product="putative WBSCR19-like protein 6 isoform 1" /note="Speedy E; speedy homolog E1; williams-Beuren syndrome chromosomal region 19 protein; Williams Beuren syndrome chromosome region 19 protein; speedy protein E1; putative WBSCR19-like protein 6" /calculated_mol_wt=44963 CDS 1..376 /gene="SPDYE1" /gene_synonym="Ringo1; SPDYB2L2; SPDYE; WBSCR19" /coded_by="NM_001378423.1:515..1645" /note="isoform 1 is encoded by transcript variant 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_001369633 249 aa linear PRI 30-AUG-2020 DEFINITION putative speedy protein E7 [Homo sapiens]. ACCESSION NP_001369633 VERSION NP_001369633.1 DBSOURCE REFSEQ: accession NM_001382704.1 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 249) 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 AC211469.4. 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. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..249 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q11.23" Protein 1..249 /product="putative speedy protein E7" /note="Williams Beuren syndrome chromosome region 19 pseudogene; speedy homolog E7, pseudogene; speedy protein E7 pseudogene" /calculated_mol_wt=29926 CDS 1..249 /gene="SPDYE7P" /coded_by="NM_001382704.1:198..947" /db_xref="GeneID:441251" /db_xref="HGNC:HGNC:35466" ORIGIN 1 mklkqqrvsp ilpehhkdfn sqlapgvdps pphrsfcwkr kmewwdksee sleeeprkvl 61 apepeeiwva emlcglkmkl krrrvslvlp ehheafnrll edpvikrfla wdkglrvsdk 121 yllamvivyf sraglpswqy qcihfflaly landmeedde dpkqnifyfl ygktrsripl 181 lrkrrfqlcr cmnprarknr sqivlfqklr fqffcsmscr awvspeelee iqaydpehwv 241 wardrarls // LOCUS NP_001372338 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372338 VERSION NP_001372338.1 DBSOURCE REFSEQ: accession NM_001385409.1 KEYWORDS RefSeq. SOURCE Homo 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 :: SRR1803612.23983.1 [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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385409.1:1199..3211" /note="isoform 1 is encoded by transcript variant 15" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001166163 577 aa linear PRI 30-AUG-2020 DEFINITION zinc finger protein 573 isoform 2 [Homo sapiens]. ACCESSION NP_001166163 VERSION NP_001166163.1 DBSOURCE REFSEQ: accession NM_001172692.2 KEYWORDS RefSeq. SOURCE Homo 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 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 REFERENCE 2 (residues 1 to 577) 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 3 (residues 1 to 577) AUTHORS Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S and Malek J. CONSRTM MGC Project Team TITLE The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) JOURNAL Genome Res. 14 (10B), 2121-2127 (2004) PUBMED 15489334 REMARK Erratum:[Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to Morin, Ryan]] REFERENCE 4 (residues 1 to 577) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA778380.1, DB121870.1, BC042170.2 and AK055483.1. Transcript Variant: This variant (5) lacks four alternate exons and uses an upstream start codon, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1. Both variants 2 and 5 encode the same isoform. ##Evidence-Data-START## Transcript exon combination :: SRR1803612.73123.1, SRR7346977.827888.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..577 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.12" Protein 1..577 /product="zinc finger protein 573 isoform 2" /calculated_mol_wt=67651 Region 48..68 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(48,51,64,68) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 76..96 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(76,79,92,96) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" 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" 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) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 156..540 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" Region 160..180 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(160,163,176,180) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 172..197 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 188..204 /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" Site order(300,303,316,320) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 313..336 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 328..348 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(328,331,344,348) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 356..376 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(356,359,372,376) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(361,363,365,367..368,371..372,375,389,391,395..396, 399..400,403,417,419,421,423..424,427..428,431) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 384..404 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(384,387,400,404) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 396..420 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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" Region 440..460 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(440,443,456,460) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 468..488 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(468,471,484,488) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 496..516 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(496,499,512,516) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(501,503,505,507..508,511..512,515,529,531,535..536, 539..540,543,557,559,561,563..564,567..568,571) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 508..533 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 524..544 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(524,527,540,544) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 536..561 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 552..572 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(552,555,568,572) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..577 /gene="ZNF573" /coded_by="NM_001172692.2:197..1930" /note="isoform 2 is encoded by transcript variant 5" /db_xref="CCDS:CCDS54260.1" /db_xref="GeneID:126231" /db_xref="HGNC:HGNC:26420" ORIGIN 1 milreetqft dldlqceiis yievptyetd isstqlqsiy kreklyeckk cqkkfssgyq 61 lilhhrfhvi erpyeckecg knfrsgyqlt lhqrfhtgek pyectecgkn frsgyqltvh 121 qrfhtgekty ecrqcgkafi yashivqher ihtggkpyec qecgrafsqg ghlrihqrvh 181 tgekpykcke cgktfsrrsn lvehgqfhtd ekpyicekcg kafrrghqlt vhqrvhtgkk 241 pyeckecgkg yttasyfllh qrihkggkpy eckeckktft lyrnltrhqn ihtgeklfec 301 kqcgktyttg sklfqhqkth tgekpyecke cgkafslygy lkqhqkihtg mkhfeckeck 361 ktftlyrnlt rhqnihtgkk lfecqecgka ystgsnliqh rkthtgekpy kckecgktfs 421 lhgylnqhqk ihtgmkpyec kvcrktftfy rnltlhqsih tdekpfecke cgktfrrssh 481 ltahqsihad kkpyeckecg kafkmygylt qhqkihtggk pyeckecgka fsrasnlvqh 541 erihtgekpy vckqcgktfr ygsalkahqr ihrsikv // LOCUS NP_003108 511 aa linear PRI 30-AUG-2020 DEFINITION hyaluronidase PH-20 isoform 1 [Homo sapiens]. ACCESSION NP_003108 VERSION NP_003108.2 DBSOURCE REFSEQ: accession NM_003117.5 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 511) AUTHORS Chen X, Liu X, Ren X, Li X, Wang L and Zang W. TITLE Discovery of human posterior head 20 (hPH20) and homo sapiens sperm acrosome associated 1 (hSPACA1) immunocontraceptive epitopes and their effects on fertility in male and female mice JOURNAL Reprod. Fertil. Dev. 28 (4), 416-427 (2016) PUBMED 25209425 REMARK GeneRIF: Human posterior head 20 (hPH20) and homo sapiens sperm acrosome associated 1 (hSPACA1) immunocontraceptive epitopes reduced fertility in male/female mice. REFERENCE 2 (residues 1 to 511) AUTHORS Huang Z, Zhao C, Chen Y, Cowell JA, Wei G, Kultti A, Huang L, Thompson CB, Rosengren S, Frost GI and Shepard HM. TITLE Recombinant human hyaluronidase PH20 does not stimulate an acute inflammatory response and inhibits lipopolysaccharide-induced neutrophil recruitment in the air pouch model of inflammation JOURNAL J. Immunol. 192 (11), 5285-5295 (2014) PUBMED 24778442 REMARK GeneRIF: results indicate that neither rHuPH20 nor its directly generated HA catabolites have inflammatory properties in the air pouch model, and rHuPH20 can instead inhibit some aspects of inflammation, such as neutrophil infiltration into the air pouch. REFERENCE 3 (residues 1 to 511) AUTHORS Redgrove KA, Anderson AL, McLaughlin EA, O'Bryan MK, Aitken RJ and Nixon B. TITLE Investigation of the mechanisms by which the molecular chaperone HSPA2 regulates the expression of sperm surface receptors involved in human sperm-oocyte recognition JOURNAL Mol. Hum. Reprod. 19 (3), 120-135 (2013) PUBMED 23247813 REMARK GeneRIF: HSPA2 regulates the expression of sperm surface receptors involved in human sperm-oocyte recognition, such as arylsulfatase A and SPAM1. REFERENCE 4 (residues 1 to 511) AUTHORS Preston M, Gong X, Su W, Matsumoto SG, Banine F, Winkler C, Foster S, Xing R, Struve J, Dean J, Baggenstoss B, Weigel PH, Montine TJ, Back SA and Sherman LS. TITLE Digestion products of the PH20 hyaluronidase inhibit remyelination JOURNAL Ann. Neurol. 73 (2), 266-280 (2013) PUBMED 23463525 REMARK GeneRIF: PH20 is elevated in demyelinating lesions and that increased PH20 expression is sufficient to inhibit oligodendrocyte precursor cell maturation and remyelination. REFERENCE 5 (residues 1 to 511) AUTHORS Redgrove KA, Nixon B, Baker MA, Hetherington L, Baker G, Liu DY and Aitken RJ. TITLE The molecular chaperone HSPA2 plays a key role in regulating the expression of sperm surface receptors that mediate sperm-egg recognition JOURNAL PLoS ONE 7 (11), e50851 (2012) PUBMED 23209833 REMARK GeneRIF: The interaction between SPAM1, ARSA and HSPA2 in a multimeric complex mediating sperm-egg interaction. REFERENCE 6 (residues 1 to 511) AUTHORS Jones MH, Davey PM, Aplin H and Affara NA. TITLE Expression analysis, genomic structure, and mapping to 7q31 of the human sperm adhesion molecule gene SPAM1 JOURNAL Genomics 29 (3), 796-800 (1995) PUBMED 8575780 REFERENCE 7 (residues 1 to 511) AUTHORS Lin Y, Mahan K, Lathrop WF, Myles DG and Primakoff P. TITLE A hyaluronidase activity of the sperm plasma membrane protein PH-20 enables sperm to penetrate the cumulus cell layer surrounding the egg JOURNAL J. Cell Biol. 125 (5), 1157-1163 (1994) PUBMED 8195297 REFERENCE 8 (residues 1 to 511) AUTHORS Gmachl M, Sagan S, Ketter S and Kreil G. TITLE The human sperm protein PH-20 has hyaluronidase activity JOURNAL FEBS Lett. 336 (3), 545-548 (1993) PUBMED 8282124 REFERENCE 9 (residues 1 to 511) AUTHORS Lin Y, Kimmel LH, Myles DG and Primakoff P. TITLE Molecular cloning of the human and monkey sperm surface protein PH-20 JOURNAL Proc. Natl. Acad. Sci. U.S.A. 90 (21), 10071-10075 (1993) PUBMED 8234258 REFERENCE 10 (residues 1 to 511) AUTHORS Lathrop WF, Carmichael EP, Myles DG and Primakoff P. TITLE cDNA cloning reveals the molecular structure of a sperm surface protein, PH-20, involved in sperm-egg adhesion and the wide distribution of its gene among mammals JOURNAL J. Cell Biol. 111 (6 Pt 2), 2939-2949 (1990) PUBMED 2269661 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AY920279.1, AK292229.1, BC026163.1 and AC004690.2. On Jun 3, 2002 this sequence version replaced NP_003108.1. Summary: Hyaluronidase degrades hyaluronic acid, a major structural proteoglycan found in extracellular matrices and basement membranes. Six members of the hyaluronidase family are clustered into two tightly linked groups on chromosome 3p21.3 and 7q31.3. This gene was previously referred to as HYAL1 and HYA1 and has since been assigned the official symbol SPAM1; another family member on chromosome 3p21.3 has been assigned HYAL1. This gene encodes a GPI-anchored enzyme located on the human sperm surface and inner acrosomal membrane. This multifunctional protein is a hyaluronidase that enables sperm to penetrate through the hyaluronic acid-rich cumulus cell layer surrounding the oocyte, a receptor that plays a role in hyaluronic acid induced cell signaling, and a receptor that is involved in sperm-zona pellucida adhesion. Abnormal expression of this gene in tumors has implicated this protein in degradation of basement membranes leading to tumor invasion and metastasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 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 :: BC026163.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2148093 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..511 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q31.32" Protein 1..511 /product="hyaluronidase PH-20 isoform 1" /EC_number="3.2.1.35" /note="sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding); sperm surface protein PH-20; hyal-PH20; hyaluronoglucosaminidase PH-20; hyaluronidase PH-20; epididymis secretory sperm binding protein Li 96n" /calculated_mol_wt=58264 Region 42..369 /region_name="Glyco_hydro_56" /note="Hyaluronidase; pfam01630" /db_xref="CDD:307658" Site 82 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P38567.1)" Site 166 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P38567.1)" Site 235 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P38567.1)" Site 254 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P38567.1)" Site 368 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P38567.1)" Site 393 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P38567.1)" CDS 1..511 /gene="SPAM1" /gene_synonym="HEL-S-96n; HYA1; HYAL1; HYAL3; HYAL5; PH-20; PH20; SPAG15" /coded_by="NM_003117.5:431..1966" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS5790.1" /db_xref="GeneID:6677" /db_xref="HGNC:HGNC:11217" /db_xref="MIM:600930" ORIGIN 1 mgvlkfkhif frsfvkssgv sqivftflli pccltlnfra ppvipnvpfl wawnapsefc 61 lgkfdepldm slfsfigspr inatgqgvti fyvdrlgyyp yidsitgvtv nggipqkisl 121 qdhldkakkd itfympvdnl gmavidweew rptwarnwkp kdvyknrsie lvqqqnvqls 181 lteatekakq efekagkdfl vetiklgkll rpnhlwgyyl fpdcynhhyk kpgyngscfn 241 veikrnddls wlwnestaly psiylntqqs pvaatlyvrn rvreairvsk ipdaksplpv 301 faytrivftd qvlkflsqde lvytfgetva lgasgiviwg tlsimrsmks cllldnymet 361 ilnpyiinvt laakmcsqvl cqeqgvcirk nwnssdylhl npdnfaiqle kggkftvrgk 421 ptledleqfs ekfycscyst lsckekadvk dtdavdvcia dgvcidaflk ppmeteepqi 481 fynaspstls atmfiwrlev wdqgisrigf f // LOCUS NP_001004351 549 aa linear PRI 30-AUG-2020 DEFINITION speedy protein E3 [Homo sapiens]. ACCESSION NP_001004351 XP_496911 VERSION NP_001004351.3 DBSOURCE REFSEQ: accession NM_001004351.5 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 549) 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 BC056606.1 and BC100972.2. On Dec 31, 2009 this sequence version replaced NP_001004351.2. ##Evidence-Data-START## Transcript exon combination :: BC056606.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on computational evidence ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..549 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q22.1" Protein 1..549 /product="speedy protein E3" /note="speedy homolog E3; Putative WBSCR19-like protein 7; putative Speedy protein E3" /calculated_mol_wt=63764 Region 391..545 /region_name="Spy1" /note="Cell cycle regulatory protein; pfam11357" /db_xref="CDD:288249" CDS 1..549 /gene="SPDYE3" /gene_synonym="SPDYB2" /coded_by="NM_001004351.5:185..1834" /db_xref="CCDS:CCDS47658.2" /db_xref="GeneID:441272" /db_xref="HGNC:HGNC:35462" /db_xref="MIM:617625" ORIGIN 1 mtshqpqpqe eqspqrstsg yplqevvdde vsgpsapgvd pspprrslgc krkrecldes 61 ddepekelap epeetwvaet lcglkmkakr rrvslvlpey yeafnrllap gvdpspprrs 121 lgckrkrecl desddepeke lapepeetwv aetlcglkmk akrrrvslvl peyyeafnrl 181 lapgvdpspp rrslgckrkr ecldesddep ekelapepee twvaetlcgl kmkakrrrvs 241 lvlpeyyeaf nrllapgvdp spprrslgck rkrecldesd depekelape peetwvaetl 301 cglkmkakrr rvslvlpeyy eafnrllapg vdpspprrsl gckrkrecld esddepekel 361 apepeetwva etlcglkmka krrrvslvlp eyyeafnrll edpvikrfla wdkdlrvsdk 421 yllamviayf sraglpswqy qrihfflaly landmeedde apkqkifyfl ygkthshipl 481 rpkhwfqlcr pmnprarknc sqialfqkrr fqffcsmrcr awvspeelee iqaydpehwv 541 wardrahls // LOCUS NP_036598 245 aa linear PRI 30-AUG-2020 DEFINITION tetraspanin-16 isoform 1 [Homo sapiens]. ACCESSION NP_036598 VERSION NP_036598.1 DBSOURCE REFSEQ: accession NM_012466.4 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 245) AUTHORS Zhang W, Zhang X and Qu S. TITLE Cysteine Scanning Mutagenesis of TM4b-4c Loop of Glutamate Transporter EAAT1 Reveals Three Conformationally Sensitive Residues JOURNAL Mol. Pharmacol. 94 (1), 713-721 (2018) PUBMED 29654220 REMARK GeneRIF: To probe the structural role of the TM4b-4c loop of EAAT1 (Rattus norvegicus), each of the 57 amino acid residues was mutated to cysteine. REFERENCE 2 (residues 1 to 245) 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 245) AUTHORS Puls KL, Ni J, Liu D, Morahan G and Wright MD. TITLE The molecular characterisation of a novel tetraspanin protein, TM4-B(1) JOURNAL Biochim. Biophys. Acta 1447 (1), 93-99 (1999) PUBMED 10500248 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB457828.1 and AF133424.1. 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 might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]. Transcript Variant: This variant (1) encodes the longest isoform (1). Sequence Note: The sequence AF133424.1 is a chimeric mRNA clone. Only the tetraspanin TM4-B region was propagated into this RefSeq record. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..245 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.2" Protein 1..245 /product="tetraspanin-16 isoform 1" /note="tetraspanin TM4-B; transmembrane 4 superfamily member 16; tspan-16" /calculated_mol_wt=26135 Site 14..34 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9UKR8.1)" Region 19..232 /region_name="Tetraspannin" /note="Tetraspanin family; pfam00335" /db_xref="CDD:278750" Site 38..58 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9UKR8.1)" Site 60..80 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9UKR8.1)" Site 95..115 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9UKR8.1)" Region 120..215 /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(123,125..126,129,143,146..147,150..151) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:239409" CDS 1..245 /gene="TSPAN16" /gene_synonym="TM-8; TM4-B; TM4SF16" /coded_by="NM_012466.4:139..876" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS12256.1" /db_xref="GeneID:26526" /db_xref="HGNC:HGNC:30725" /db_xref="MIM:617580" ORIGIN 1 maeihtpyss lkkllsllng fvavsgiilv glgiggkcgg asltnvlgls sayllhvgnl 61 clvmgcitvl lgcagwygat kesrgtllfc ilsmvivlim evtaatvvll ffpivgdval 121 ehtfvtlrkn yrgynepddy stqwnlvmek lkccgvnnyt dfsgssfemt tghtyprscc 181 ksigsvscdg rdvspnvihq kgcfhkllki tktqsftlsg sslgaaviqr wgsryvaqag 241 lella // LOCUS NP_001372340 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372340 VERSION NP_001372340.1 DBSOURCE REFSEQ: accession NM_001385411.1 KEYWORDS RefSeq. SOURCE Homo 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 :: SRR1803617.41006.1 [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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385411.1:1133..3145" /note="isoform 1 is encoded by transcript variant 17" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372348 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372348 VERSION NP_001372348.1 DBSOURCE REFSEQ: accession NM_001385419.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385419.1:1410..3422" /note="isoform 1 is encoded by transcript variant 25" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372362 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372362 VERSION NP_001372362.1 DBSOURCE REFSEQ: accession NM_001385433.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385433.1:1237..3249" /note="isoform 1 is encoded by transcript variant 39" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372356 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372356 VERSION NP_001372356.1 DBSOURCE REFSEQ: accession NM_001385427.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385427.1:990..3002" /note="isoform 1 is encoded by transcript variant 33" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372349 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372349 VERSION NP_001372349.1 DBSOURCE REFSEQ: accession NM_001385420.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385420.1:1291..3303" /note="isoform 1 is encoded by transcript variant 26" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372361 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372361 VERSION NP_001372361.1 DBSOURCE REFSEQ: accession NM_001385432.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385432.1:891..2903" /note="isoform 1 is encoded by transcript variant 38" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001139287 594 aa linear PRI 30-AUG-2020 DEFINITION N-acetylglucosamine-6-phosphate deacetylase isoform 2 [Homo sapiens]. ACCESSION NP_001139287 VERSION NP_001139287.1 DBSOURCE REFSEQ: accession NM_001145815.2 KEYWORDS RefSeq. SOURCE Homo 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 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 594) 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 3 (residues 1 to 594) 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 CN362870.1 and AK296877.1. Transcript Variant: This variant (2) differs in the 3' structure and retains an intron in the 3' coding region compared to variant 3. The encoded isoform (2) is longer and has a distinct C-terminus, compared to isoform 3. ##Evidence-Data-START## Transcript exon combination :: AK296877.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..594 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p13.3" Protein 1..594 /product="N-acetylglucosamine-6-phosphate deacetylase isoform 2" /EC_number="3.5.1.25" /note="glcNAc 6-P deacetylase; amidohydrolase domain-containing protein 2; putative N-acetylglucosamine-6-phosphate deacetylase" /calculated_mol_wt=63464 Region 13..428 /region_name="NagA" /note="N-acetylglucosamine-6-phosphate deacetylase, NagA, catalyzes the hydrolysis of the N-acetyl group of N-acetyl-glucosamine-6-phosphate (GlcNAc-6-P) to glucosamine 6-phosphate and acetate. This is the first committed step in the biosynthetic pathway to...; cd00854" /db_xref="CDD:238434" Site order(71,73,143,154,211,232,235..236,272,294,358) /site_type="active" /db_xref="CDD:238434" Site order(234,240,242..243,245,252..253,271..274,276..277, 279..280,283) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:238434" CDS 1..594 /gene="AMDHD2" /gene_synonym="CGI-14" /coded_by="NM_001145815.2:89..1873" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS53984.1" /db_xref="GeneID:51005" /db_xref="HGNC:HGNC:24262" ORIGIN 1 mrgeqgaaga rvlqftncri lrggkllred lwvrggrild peklffeerr vaderrdcgg 61 rilapgfidv qinggfgvdf sqatedvgsg valvarrils hgvtsfcptl vtsppevyhk 121 vvpqipvksg gphgagvlgl hlegpfisre krgahpeahl rsfeadafqd llatygpldn 181 vrivtlapel grsheviral targicvslg hsvadlraae davwsgatfi thlfnamlpf 241 hhrdpgivgl ltsdrlpagr cifygmiadg thtnpaalri ahrahpqglv lvtdaipalg 301 lgngrhtlgq qevevdglta yvagerpdpl gprsqpacqv ahdppracpl csqgtktlsg 361 siapmdvcvr hflqatgcsm esaleaaslh paqllgleks kgtldfgada dfvvlddslh 421 vqatyisgpv lagcgdpawc wravweapvc pahpisvilp ssvspwpwht pmwqtravrl 481 peqlrggwas gallalrtat vgsdvrdwcs ptsgvivltf spfefwggwl psplltgavl 541 gtggtrlalp lfsslcckaq lrkclqvqrd rmvwappvgr eqpgknhlpg qgla // LOCUS NP_008966 352 aa linear PRI 30-AUG-2020 DEFINITION keratocan precursor [Homo sapiens]. ACCESSION NP_008966 VERSION NP_008966.1 DBSOURCE REFSEQ: accession NM_007035.4 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 352) AUTHORS Dudakova L, Vercruyssen JHJ, Balikova I, Postolache L, Leroy BP, Skalicka P and Liskova P. TITLE Analysis of KERA in four families with cornea plana identifies two novel mutations JOURNAL Acta Ophthalmol 96 (1), e87-e91 (2018) PUBMED 28677912 REMARK GeneRIF: KERA mutation c.740A>G has been identified to date in three different populations, which makes it the most frequently occurring mutation in patients with cornea plana REFERENCE 2 (residues 1 to 352) AUTHORS Khan AO. TITLE Corneal ectasia in a boy with homozygous KERA mutation JOURNAL Ophthalmic Genet. 39 (1), 141-143 (2018) PUBMED 28799822 REMARK GeneRIF: We expand the phenotypic spectrum of biallelic KERA mutations in this report of a boy with juvenile corneal ectasia who was found to harbor an underlying novel homozygous mutation in the gene. REFERENCE 3 (residues 1 to 352) AUTHORS Kumari D, Tiwari A, Choudhury M, Kumar A, Rao A and Dixit M. TITLE A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma JOURNAL J. Glaucoma 25 (2), e106-e109 (2016) PUBMED 25967529 REMARK GeneRIF: The mutation that we report here leads to the deletion of a conserved amino acid (p.Phe125del) from the third LRR motif of the keratocan protein, which might lead to an abnormal tertiary structure of the protein, thereby leading to the disease. REFERENCE 4 (residues 1 to 352) AUTHORS Roos L, Bertelsen B, Harris P, Bygum A, Jensen H, Gronskov K and Tumer Z. TITLE Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function JOURNAL BMC Med. Genet. 16, 40 (2015) PUBMED 26099342 REMARK GeneRIF: a novel KERA variant, p.(Ile225Thr), was detected that segregates with Cornea plana in the homozygous form. Publication Status: Online-Only REFERENCE 5 (residues 1 to 352) AUTHORS Maiwald S, Sivapalaratnam S, Motazacker MM, van Capelleveen JC, Bot I, de Jager SC, van Eck M, Jolley J, Kuiper J, Stephens J, Albers CA, Vosmeer CR, Kruize H, Geerke DP, van der Wal AC, van der Loos CM, Kastelein JJ, Trip MD, Ouwehand WH, Dallinga-Thie GM and Hovingh GK. TITLE Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis JOURNAL PLoS ONE 9 (5), e98289 (2014) PUBMED 24879339 REMARK GeneRIF: rare variant in KERA was identified in a large kindred with premature atherosclerosis Publication Status: Online-Only REFERENCE 6 (residues 1 to 352) AUTHORS Tasheva ES, Conrad AH and Conrad GW. TITLE Identification and characterization of conserved cis-regulatory elements in the human keratocan gene promoter JOURNAL Biochim. Biophys. Acta 1492 (2-3), 452-459 (2000) PUBMED 10899581 REFERENCE 7 (residues 1 to 352) AUTHORS Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivela T, Kucherlapati R, Forsius H and de la Chapelle A. TITLE Mutations in KERA, encoding keratocan, cause cornea plana JOURNAL Nat. Genet. 25 (1), 91-95 (2000) PUBMED 10802664 REFERENCE 8 (residues 1 to 352) AUTHORS Tasheva ES, Pettenati M, Von Kap-Her C and Conrad GW. TITLE Assignment of keratocan gene (KERA) to human chromosome band 12q22 by in situ hybridization JOURNAL Cytogenet. Cell Genet. 88 (3-4), 244-245 (2000) PUBMED 10828599 REFERENCE 9 (residues 1 to 352) AUTHORS Tasheva ES, Funderburgh JL, Funderburgh ML, Corpuz LM and Conrad GW. TITLE Structure and sequence of the gene encoding human keratocan JOURNAL DNA Seq. 10 (1), 67-74 (1999) PUBMED 10565548 REFERENCE 10 (residues 1 to 352) AUTHORS Tahvanainen E, Forsius H, Karila E, Ranta S, Eerola M, Weissenbach J, Sistonen P and de la Chapelle A. TITLE Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis JOURNAL Genomics 26 (2), 290-293 (1995) PUBMED 7601455 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC078873.22. Summary: The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[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 :: AF205403.1, AK314990.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000266719.4/ ENSP00000266719.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..352 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q21.33" Protein 1..352 /product="keratocan precursor" /note="keratan sulfate proteoglycan keratocan" /calculated_mol_wt=38192 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2335 mat_peptide 21..352 /product="keratocan" /calculated_mol_wt=38192 Region <48..>311 /region_name="NEL" /note="C-terminal novel E3 ligase, LRR-interacting; cl26018" /db_xref="CDD:330839" Region 72..93 /region_name="LRR 1" /note="propagated from UniProtKB/Swiss-Prot (O60938.1)" Region 73..96 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 93 /site_type="glycosylation" /note="N-linked (GlcNAc...) (keratan sulfate) asparagine. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (O60938.1)" Region 96..117 /region_name="LRR 2" /note="propagated from UniProtKB/Swiss-Prot (O60938.1)" Region 97..122 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 122..142 /region_name="LRR 3" /note="propagated from UniProtKB/Swiss-Prot (O60938.1)" Region 123..143 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 143..164 /region_name="LRR 4" /note="propagated from UniProtKB/Swiss-Prot (O60938.1)" Region 144..167 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 167..180 /region_name="LRR 5" /note="propagated from UniProtKB/Swiss-Prot (O60938.1)" Site 167 /site_type="glycosylation" /note="N-linked (GlcNAc...) (keratan sulfate) asparagine. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (O60938.1)" Region 168..193 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 193..213 /region_name="LRR 6" /note="propagated from UniProtKB/Swiss-Prot (O60938.1)" Region 194..217 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 214..235 /region_name="LRR 7" /note="propagated from UniProtKB/Swiss-Prot (O60938.1)" Region 218..238 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 222 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O60938.1)" Region 238..258 /region_name="LRR 8" /note="propagated from UniProtKB/Swiss-Prot (O60938.1)" Region 239..264 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Region 263..282 /region_name="LRR 9" /note="propagated from UniProtKB/Swiss-Prot (O60938.1)" Region 283..304 /region_name="LRR 10" /note="propagated from UniProtKB/Swiss-Prot (O60938.1)" Region 284..321 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" Site 298 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:16335952; propagated from UniProtKB/Swiss-Prot (O60938.1)" Region 322..343 /region_name="leucine-rich repeat" /note="leucine-rich repeat [structural motif]" /db_xref="CDD:275380" CDS 1..352 /gene="KERA" /gene_synonym="CNA2; KTN; SLRR2B" /coded_by="NM_007035.4:290..1348" /db_xref="CCDS:CCDS9037.1" /db_xref="GeneID:11081" /db_xref="HGNC:HGNC:6309" /db_xref="MIM:603288" ORIGIN 1 magticfimw vlfitdtvws rsvrqvyevh dsddwtihdf ecpmecfcpp sfptalycen 61 rglkeipaip sriwylylqn nlietipekp fenatqlrwi nlnknkitny giekgalsql 121 kkllflfled neleevpspl prsleqlqla rnkvsripqg tfsnlenltl ldlqnnklvd 181 nafqrdtfkg lknlmqlnma knalrnmppr lpantmqlfl dnnsiegipe nyfnvipkva 241 flrlnhnkls deglpsrgfd vssildlqls hnqltkvpri sahlqhlhld hnkiksvnvs 301 vicpspsmlp aerdsfsygp hlrylrldgn eikppipmal mtcfrllqav ii // LOCUS NP_001335220 302 aa linear PRI 30-AUG-2020 DEFINITION olfactory receptor 51H1 [Homo sapiens]. ACCESSION NP_001335220 VERSION NP_001335220.1 DBSOURCE REFSEQ: accession NM_001348291.2 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 302) 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. 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..302 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11p15.4" Protein 1..302 /product="olfactory receptor 51H1" /note="olfactory receptor, family 51, subfamily H, member 1 pseudogene; seven transmembrane helix receptor; olfactory receptor OR11-25" /calculated_mol_wt=33635 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NH63.1)" Region 27..302 /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 (Q8NH63.1)" Site 57..77 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH63.1)" 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..258,261..262,265, 273..274,276..278,281,284..285) /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 (Q8NH63.1)" 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 (Q8NH63.1)" 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 (Q8NH63.1)" Region 234..265 /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 (Q8NH63.1)" Region 274..299 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320350" Site 277..297 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH63.1)" CDS 1..302 /gene="OR51H1" /gene_synonym="OR51H1P" /coded_by="NM_001348291.2:91..999" /db_xref="GeneID:401663" /db_xref="HGNC:HGNC:14833" ORIGIN 1 mtnlnasqan hrnfiltgip gtpdknpwla fplgflytlt llgngtilav ikvepslhep 61 tyyflsilal tdvslsmstl psmlsiywfn apqivfdaci mqmffihvfg ivesgvlvsm 121 afdrfvairn plhyvsilth dvirktgiav ltravcvvfp vpflikclpf chsnvlshsy 181 clhqnmmrla castrinsly glivviftlg ldvlltllsy vltlktvlgi vsrgerlktl 241 stclshmstv llfyvpfmga asmihrfweh lspvvhmvma diylllppvl npivysvktk 301 qi // LOCUS NP_001353208 706 aa linear PRI 30-AUG-2020 DEFINITION transmembrane protease serine 7 isoform 2 [Homo sapiens]. ACCESSION NP_001353208 XP_011511060 VERSION NP_001353208.1 DBSOURCE REFSEQ: accession NM_001366279.2 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 706) AUTHORS Luostari K, Hartikainen JM, Tengstrom M, Palvimo JJ, Kataja V, Mannermaa A and Kosma VM. TITLE Type II transmembrane serine protease gene variants associate with breast cancer JOURNAL PLoS ONE 9 (7), e102519 (2014) PUBMED 25029565 REMARK GeneRIF: Single nucleotide polymorphism in TMPRSS7(rs2399403) is significantly associated with breast cancer risk. Publication Status: Online-Only REFERENCE 2 (residues 1 to 706) 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 3 (residues 1 to 706) 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 4 (residues 1 to 706) 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 AC024887.22. On Sep 28, 2018 this sequence version replaced XP_011511060.1. 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 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..706 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q13.2" Protein 1..706 /product="transmembrane protease serine 7 isoform 2" /note="type II transmembrane serine protease 7; transmembrane protease, serine 7; matriptase-3" /calculated_mol_wt=78553 Region <7..75 /region_name="SEA" /note="SEA domain; pfam01390" /db_xref="CDD:307516" Region 110..222 /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(119,149,154,193,217,219,221..222) /site_type="other" /note="heterodimerization interface [polypeptide binding]" /db_xref="CDD:238001" Region 347..381 /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(352,360,371..372) /site_type="other" /note="putative binding surface" /db_xref="CDD:238060" Site order(364,367,371,377..378) /site_type="other" /note="calcium-binding site [ion binding]" /db_xref="CDD:238060" Site 374..378 /site_type="other" /note="D-X-S-D-E motif" /db_xref="CDD:238060" Region 422..457 /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(427,435,447..448) /site_type="other" /note="putative binding surface" /db_xref="CDD:238060" Site order(440,443,447,453..454) /site_type="other" /note="calcium-binding site [ion binding]" /db_xref="CDD:238060" Site 450..454 /site_type="other" /note="D-X-S-D-E motif" /db_xref="CDD:238060" Region 468..698 /region_name="Tryp_SPc" /note="Trypsin-like serine protease; smart00020" /db_xref="CDD:214473" CDS 1..706 /gene="TMPRSS7" /coded_by="NM_001366279.2:70..2190" /note="isoform 2 is encoded by transcript variant 3" /db_xref="GeneID:344805" /db_xref="HGNC:HGNC:30846" ORIGIN 1 mpaiywinlv yttsafskfy eqsvvadvss nnkggllvhf wivfvmprak ghifcedcva 61 ailkdsiqts iinrtsvgsl qglavdmdsv vlnaglrsdy sstigsdkgc sqyfyaehls 121 lhypleisaa sgrlmchfkl vaivgylirl siksiqiead ncvtdsltiy dsllpirssi 181 lyriceptrt lmsfvstnnl mlvtfksphi rrlsgirayf evipeqkcen tvlvkditgf 241 egkisspyyp syyppkckct wkfqtslstl gialkfynys itkksmkgce hgwweinehm 301 ycgsymdhqt ifrvpsplvh iqlqcssrls dkpllaeygs ynisqpcpvg sfrcssglcv 361 pqaqrcdgvn dcfdesdelf cvspqpacnt ssfrqhgpli cdgfrdceng rdeqnctqsi 421 pcnnrtfkcg ndicfrkqna kcdgtvdcpd gsdeegctcs rsssalhrii ggtdtleggw 481 pwqvslhfvg saycgasvis rewllsaahc fhgnrlsdpt pwtahlgmyv qgnakfvspv 541 rrivvheyyn sqtfdydial lqlsiawpet lkqliqpici pptgqrvrsg ekcwvtgwgr 601 rheadnkgsl vlqqaeveli dqtlcvstyg iitsrmlcag imsgkrdack gdsggplscr 661 rksdgkwilt givswghgsg rpnfpgvytr vsnfvpwihk yvpsll // LOCUS NP_001372303 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372303 VERSION NP_001372303.1 DBSOURCE REFSEQ: accession NM_001385374.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: SRR1803617.122435.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385374.1:1129..3141" /note="isoform 1 is encoded by transcript variant 4" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372344 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372344 VERSION NP_001372344.1 DBSOURCE REFSEQ: accession NM_001385415.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385415.1:1379..3391" /note="isoform 1 is encoded by transcript variant 21" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372358 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372358 VERSION NP_001372358.1 DBSOURCE REFSEQ: accession NM_001385429.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: SRR7346977.1980367.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385429.1:1398..3410" /note="isoform 1 is encoded by transcript variant 35" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372354 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372354 VERSION NP_001372354.1 DBSOURCE REFSEQ: accession NM_001385425.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385425.1:1483..3495" /note="isoform 1 is encoded by transcript variant 31" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372371 633 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 2 [Homo sapiens]. ACCESSION NP_001372371 VERSION NP_001372371.1 DBSOURCE REFSEQ: accession NM_001385442.1 KEYWORDS RefSeq. SOURCE Homo 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 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 633) 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 633) 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 633) 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 :: SRR1660805.9687.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..633 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q21.1" Protein 1..633 /product="neuroblastoma breakpoint family member 15 isoform 2" /note="neuroblastoma breakpoint family member 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=73281 CDS 1..633 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385442.1:1227..3128" /note="isoform 2 is encoded by transcript variant 48" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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 deghrwdqvk 301 kedqeatgpr lsrelldeke pevlqdsldr cystpsgcle ltdscqpyrs afyvleqqrv 361 glaidmdeie kyqeveedqd pscprlsrel ldekepevlq dsldrcystp sdylelpdlg 421 qpyssavysl eeqylglald vdrikkdqee eedqgppcpr lsrellevve pevlqdsldr 481 cystpsscle qpdscqpygs sfyaleekhv gfsldvgeie kkgkgkkrrg rrskkkrrrg 541 rkegeddnpp cprlygvlme veepevlqds ldrcystpsm yfeqpdsfqh yrsvfysfee 601 ehisfalyvd nrfftltvts lhlvfqmgvi fpq // LOCUS NP_001372304 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372304 VERSION NP_001372304.1 DBSOURCE REFSEQ: accession NM_001385375.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: BC023087.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385375.1:1230..3242" /note="isoform 1 is encoded by transcript variant 5" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001304877 276 aa linear PRI 30-AUG-2020 DEFINITION ADP-ribosylation factor-like protein 10 isoform 1 [Homo sapiens]. ACCESSION NP_001304877 XP_005265947 VERSION NP_001304877.1 DBSOURCE REFSEQ: accession NM_001317948.2 KEYWORDS RefSeq. SOURCE Homo 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 Louro R, Nakaya HI, Paquola AC, Martins EA, da Silva AM, Verjovski-Almeida S and Reis EM. TITLE RASL11A, member of a novel small monomeric GTPase gene family, is down-regulated in prostate tumors JOURNAL Biochem. Biophys. Res. Commun. 316 (3), 618-627 (2004) PUBMED 15033445 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC138956.3 and BC059361.1. On Dec 16, 2015 this sequence version replaced XP_005265947.1. 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 :: BC059361.1, SRR3476690.784738.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..276 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q35.2" Protein 1..276 /product="ADP-ribosylation factor-like protein 10 isoform 1" /note="ADP-ribosylation factor-like membrane-associated protein; ADP-ribosylation factor-like 10A; ADP-ribosylation factor-like protein 10" /calculated_mol_wt=31036 Region 79..250 /region_name="Arl9_Arfrp2_like" /note="Arf-like 9 (Arl9)/Arfrp2-like GTPase; cd04162" /db_xref="CDD:133362" Site 84..91 /site_type="other" /note="G1 box" /db_xref="CDD:133362" Site order(86..92,108..109,131,185..186,188,227..229) /site_type="other" /note="GTP/Mg2+ binding site [chemical binding]" /db_xref="CDD:133362" Site order(86..87,91,95,108..115,137,142) /site_type="other" /note="putative GAP interaction site [polypeptide binding]" /db_xref="CDD:133362" Site order(96..99,102..112) /site_type="other" /note="Switch I region" /db_xref="CDD:133362" Site order(109..113,118,128,132,138,140..142) /site_type="other" /note="putative GEF interaction site [polypeptide binding]" /db_xref="CDD:133362" Site 109 /site_type="other" /note="G2 box" /db_xref="CDD:133362" Site order(110..117,127,138,141..142) /site_type="other" /note="putative effector interaction site" /db_xref="CDD:133362" Site order(113..119,122..127) /site_type="other" /note="interswitch region" /db_xref="CDD:133362" Site 128..145 /site_type="other" /note="Switch II region" /db_xref="CDD:133362" Site 128..131 /site_type="other" /note="G3 box" /db_xref="CDD:133362" Site 185..188 /site_type="other" /note="G4 box" /db_xref="CDD:133362" Site 227..229 /site_type="other" /note="G5 box" /db_xref="CDD:133362" CDS 1..276 /gene="ARL10" /gene_synonym="ARL10A" /coded_by="NM_001317948.2:78..908" /note="isoform 1 is encoded by transcript variant 1" /db_xref="GeneID:285598" /db_xref="HGNC:HGNC:22042" ORIGIN 1 maprplgplv lalggaaavl gsvlfilwkt yfgrgrerrw drgeawwgae aarlpewdew 61 dpedeedeep aleeleqrev lvlgldgagk stflrvlsgk ppleghiptw gfnsvrlptk 121 dfevdlleig gsqnlrfywk efvsevdvlv fvvdsadrlr lpwarqelhk lldkdpdlpv 181 vvvankqvra vrgqlgpgdi hsemlgqgqg alpgpmawrg wlrccphlfy lcpvlipasv 241 flplclpiis ysgemrkiii kcllyarhgv lflfff // LOCUS NP_001372373 633 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 2 [Homo sapiens]. ACCESSION NP_001372373 VERSION NP_001372373.1 DBSOURCE REFSEQ: accession NM_001385444.1 KEYWORDS RefSeq. SOURCE Homo 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 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 633) 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 633) 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 633) 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]. FEATURES Location/Qualifiers source 1..633 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q21.1" Protein 1..633 /product="neuroblastoma breakpoint family member 15 isoform 2" /note="neuroblastoma breakpoint family member 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=73281 CDS 1..633 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385444.1:1164..3065" /note="isoform 2 is encoded by transcript variant 50" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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 deghrwdqvk 301 kedqeatgpr lsrelldeke pevlqdsldr cystpsgcle ltdscqpyrs afyvleqqrv 361 glaidmdeie kyqeveedqd pscprlsrel ldekepevlq dsldrcystp sdylelpdlg 421 qpyssavysl eeqylglald vdrikkdqee eedqgppcpr lsrellevve pevlqdsldr 481 cystpsscle qpdscqpygs sfyaleekhv gfsldvgeie kkgkgkkrrg rrskkkrrrg 541 rkegeddnpp cprlygvlme veepevlqds ldrcystpsm yfeqpdsfqh yrsvfysfee 601 ehisfalyvd nrfftltvts lhlvfqmgvi fpq // LOCUS NP_001337246 752 aa linear PRI 30-AUG-2020 DEFINITION protein monoglycylase TTLL8 [Homo sapiens]. ACCESSION NP_001337246 XP_016884665 VERSION NP_001337246.1 DBSOURCE REFSEQ: accession NM_001350317.2 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 752) AUTHORS Janke C, Rogowski K, Wloga D, Regnard C, Kajava AV, Strub JM, Temurak N, van Dijk J, Boucher D, van Dorsselaer A, Suryavanshi S, Gaertig J and Edde B. TITLE Tubulin polyglutamylase enzymes are members of the TTL domain protein family JOURNAL Science 308 (5729), 1758-1762 (2005) PUBMED 15890843 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL022327.17 and AI026623.1. On Apr 13, 2017 this sequence version replaced XP_016884665.1. 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. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..752 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="22" /map="22q13.33" Protein 1..752 /product="protein monoglycylase TTLL8" /note="tubulin tyrosine ligase-like family, member 8; tubulin--tyrosine ligase-like protein 8" /calculated_mol_wt=84292 Region <348..574 /region_name="TTL" /note="Tubulin-tyrosine ligase family; pfam03133" /db_xref="CDD:281171" CDS 1..752 /gene="TTLL8" /coded_by="NM_001350317.2:113..2371" /db_xref="GeneID:164714" /db_xref="HGNC:HGNC:34000" ORIGIN 1 meperkglsl asssdgdgre enklkqgisq dlasssrldr ykiarqltek aikekkifsi 61 yghypvvraa lrrkgwvekk fhflpkvipd vedegarvnd dtcakvkenq emalektdni 121 hdvmsrlvkn empyllwtik rdiidyhslt ydqmlnhyak tasfttkigl cvnmrslpwy 181 vpanpdsffp rcyslctese qqefledfrr tmassilkwv vshqscsrss rskprdqree 241 agssdlssrq daenaeaklr glpgqlvdia ckvcqaylgq lehedidtsa davedlteae 301 wedltqqyys lvhgdafisn srnyfsqcqa llnritsvnp qtdidglrni wiikpaaksr 361 grdivcmdrv eeilelaaad hplsrdnkwv vqkyietpll icdtkfdirq wflvtdwnpl 421 tiwfykesyl rfstqrfsld kldsaihlcn navqkylknd vgrspllpah nmwtstrfqe 481 ylqrqgrgav wgsviypsmk kaiahamkva qdhveprkns felygadfvl grdfrpwlie 541 inssptmhps tpvtaqlcaq vqedtikvav drscdignfe llwrqpvvep ppfsgsdlcv 601 agvsvrrarr qvlpvcnlka saslldaqpl kargpsampd paqgppspal qrdlglkeek 661 glplallapl rgaaesggaa qptrtkaagk velpacpcrh vdsqapntgv pvaqpakswd 721 pnqlnahple pvlrglktae galrpppggk gs // LOCUS NP_775909 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_775909 VERSION NP_775909.2 DBSOURCE REFSEQ: accession NM_173638.5 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 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. On Dec 31, 2009 this sequence version replaced NP_775909.1. 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, May 2013]. ##Evidence-Data-START## CDS exon combination :: BC023087.1 [ECO:0000331] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion ##RefSeq-Attributes-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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 Region 182..240 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 269..327 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 340..402 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 415..477 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 490..552 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 583..644 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_173638.5:1040..3052" /note="isoform 1 is encoded by transcript variant 2" /db_xref="CCDS:CCDS72852.1" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372357 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372357 VERSION NP_001372357.1 DBSOURCE REFSEQ: accession NM_001385428.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: SRR1803617.69748.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385428.1:1417..3429" /note="isoform 1 is encoded by transcript variant 34" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_039225 315 aa linear PRI 30-AUG-2020 DEFINITION olfactory receptor 11A1 [Homo sapiens]. ACCESSION NP_039225 VERSION NP_039225.1 DBSOURCE REFSEQ: accession NM_013937.4 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 315) 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) REFERENCE 2 (residues 1 to 315) 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 315) 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 4 (residues 1 to 315) AUTHORS Volz A, Ehlers A, Younger R, Forbes S, Trowsdale J, Schnorr D, Beck S and Ziegler A. TITLE Complex transcription and splicing of odorant receptor genes JOURNAL J. Biol. Chem. 278 (22), 19691-19701 (2003) PUBMED 12637542 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL645927.3. 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]. Sequence Note: The RefSeq transcript and protein were derived from 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## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..315 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p22.1" Protein 1..315 /product="olfactory receptor 11A1" /note="olfactory receptor, family 11, subfamily A, member 2; olfactory receptor OR6-30; olfactory receptor 11A2" /calculated_mol_wt=35119 Site 8 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9GZK7.1)" Region 27..295 /region_name="7tmA_OR11A-like" /note="olfactory receptor subfamily 11A and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors; cd15911" /db_xref="CDD:320577" Region 28..54 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:320577" Site 28..48 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9GZK7.1)" Site 57..77 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9GZK7.1)" Region 61..87 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320577" Site order(83,86..87,98..103,105..106,109,154,156..160,196, 199..201,203..205,207..208,253,256..257,259..260,263, 269..270,272..274,277,280..281) /site_type="other" /note="putative ligand binding pocket [chemical binding]" /db_xref="CDD:320577" Region 98..128 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320577" Site 101..121 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9GZK7.1)" Region 141..162 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320577" Site 141..161 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9GZK7.1)" Region 196..226 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320577" Site 199..218 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9GZK7.1)" Region 233..263 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320577" Site 239..259 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9GZK7.1)" Region 270..295 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320577" Site 273..293 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9GZK7.1)" CDS 1..315 /gene="OR11A1" /gene_synonym="6M1-18; dJ994E9.6; hs6M1-18; OR11A2" /coded_by="NM_013937.4:301..1248" /db_xref="CCDS:CCDS34363.1" /db_xref="GeneID:26531" /db_xref="HGNC:HGNC:8176" ORIGIN 1 meivstgnet itefvllgfy dipelhflff ivftavyvfi iignmliiva vvssqrlhkp 61 myiflanlsf ldilytsavm pkmlegflqe atisvagcll qffifgslat aeclllavma 121 ydrylaicyp lhypllmgpr rymglvvttw lsgfvvdglv valvaqlrfc gpnhidqfyc 181 dfmlfvglac sdprvaqvtt lilsvfclti pfgliltsya rivvavlrvp agasrrrafs 241 tcsshlavvt tfygtlmify vapsavhsql lskvfsllyt vvtplfnpvi ytmrnkevhq 301 alrkilcikq tetld // LOCUS NP_001372374 633 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 2 [Homo sapiens]. ACCESSION NP_001372374 VERSION NP_001372374.1 DBSOURCE REFSEQ: accession NM_001385445.1 KEYWORDS RefSeq. SOURCE Homo 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 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 633) 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 633) 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 633) 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]. FEATURES Location/Qualifiers source 1..633 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q21.1" Protein 1..633 /product="neuroblastoma breakpoint family member 15 isoform 2" /note="neuroblastoma breakpoint family member 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=73281 CDS 1..633 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385445.1:1057..2958" /note="isoform 2 is encoded by transcript variant 51" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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 deghrwdqvk 301 kedqeatgpr lsrelldeke pevlqdsldr cystpsgcle ltdscqpyrs afyvleqqrv 361 glaidmdeie kyqeveedqd pscprlsrel ldekepevlq dsldrcystp sdylelpdlg 421 qpyssavysl eeqylglald vdrikkdqee eedqgppcpr lsrellevve pevlqdsldr 481 cystpsscle qpdscqpygs sfyaleekhv gfsldvgeie kkgkgkkrrg rrskkkrrrg 541 rkegeddnpp cprlygvlme veepevlqds ldrcystpsm yfeqpdsfqh yrsvfysfee 601 ehisfalyvd nrfftltvts lhlvfqmgvi fpq // LOCUS NP_001372369 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372369 VERSION NP_001372369.1 DBSOURCE REFSEQ: accession NM_001385440.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: SRR7410570.51164.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385440.1:967..2979" /note="isoform 1 is encoded by transcript variant 46" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001156995 547 aa linear PRI 30-AUG-2020 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 :: SRR1660805.80149.1, CR984145.1 [ECO:0000332] ##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-triphosphate receptor-interacting protein-like 1; inositol 1,4,5-trisphosphate 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 <348..514 /region_name="Mab-21" /note="Mab-21 protein; pfam03281" /db_xref="CDD:281298" 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_001372375 595 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 3 [Homo sapiens]. ACCESSION NP_001372375 VERSION NP_001372375.1 DBSOURCE REFSEQ: accession NM_001385446.1 KEYWORDS RefSeq. SOURCE Homo 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 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 595) 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 595) 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 595) 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 :: SRR1660809.15458.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..595 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q21.1" Protein 1..595 /product="neuroblastoma breakpoint family member 15 isoform 3" /note="neuroblastoma breakpoint family member 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=68747 CDS 1..595 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385446.1:809..2596" /note="isoform 3 is encoded by transcript variant 52" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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 NP_001372351 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372351 VERSION NP_001372351.1 DBSOURCE REFSEQ: accession NM_001385422.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385422.1:1407..3419" /note="isoform 1 is encoded by transcript variant 28" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372302 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372302 VERSION NP_001372302.1 DBSOURCE REFSEQ: accession NM_001385373.1 KEYWORDS RefSeq. SOURCE Homo 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 :: SRR1803611.24717.1 [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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385373.1:1159..3171" /note="isoform 1 is encoded by transcript variant 3" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372364 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372364 VERSION NP_001372364.1 DBSOURCE REFSEQ: accession NM_001385435.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385435.1:1263..3275" /note="isoform 1 is encoded by transcript variant 41" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001239527 71 aa linear PRI 30-AUG-2020 DEFINITION colipase isoform 3 preproprotein [Homo sapiens]. ACCESSION NP_001239527 VERSION NP_001239527.1 DBSOURCE REFSEQ: accession NM_001252598.2 KEYWORDS RefSeq. SOURCE Homo 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 Zhang G, He P, Tan H, Budhu A, Gaedcke J, Ghadimi BM, Ried T, Yfantis HG, Lee DH, Maitra A, Hanna N, Alexander HR and Hussain SP. TITLE Integration of metabolomics and transcriptomics revealed a fatty acid network exerting growth inhibitory effects in human pancreatic cancer JOURNAL Clin. Cancer Res. 19 (18), 4983-4993 (2013) PUBMED 23918603 REMARK GeneRIF: Low CLPS expression is associated with pancreatic cancer. REFERENCE 2 (residues 1 to 71) AUTHORS Xiao X, Ferguson MR, Magee KE, Hale PD, Wang Y and Lowe ME. TITLE The Arg92Cys colipase polymorphism impairs function and secretion by increasing protein misfolding JOURNAL J. Lipid Res. 54 (2), 514-521 (2013) PUBMED 23204298 REMARK GeneRIF: humans with the Arg92Cys substitution will secrete less functional colipase REFERENCE 3 (residues 1 to 71) AUTHORS Weyrich P, Albet S, Lammers R, Machicao F, Fritsche A, Stefan N and Haring HU. TITLE Genetic variability of procolipase associates with altered insulin secretion in non-diabetic Caucasians JOURNAL Exp. Clin. Endocrinol. Diabetes 117 (2), 83-87 (2009) PUBMED 18726866 REMARK GeneRIF: CLPS genetic variability associates with insulin secretory function in non-diabetic humans and may represent a novel candidate gene for development of type 2 diabetes GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (residues 1 to 71) AUTHORS Wermter AK, Scherag A, Holter K, Reichwald K, Lichtner P, Siegfried W, Blundell J, Lawton C, Whybrow S, Stubbs J, Arch JR, Meitinger T, Platzer M, Hinney A and Hebebrand J. TITLE Procolipase gene: no association with early-onset obesity or fat intake JOURNAL Obes Facts 2 (1), 40-44 (2009) PUBMED 20054203 REMARK GeneRIF: found no evidence for an association of pancreatic colipase(CLPS) single nucleotide polymorphisms rs2766597, rs41270082, rs3748050, and rs3748051 with obesity or percentage of dietary fat intake GeneRIF: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) REFERENCE 5 (residues 1 to 71) AUTHORS D'Silva S, Xiao X and Lowe ME. TITLE A polymorphism in the gene encoding procolipase produces a colipase, Arg92Cys, with decreased function against long-chain triglycerides JOURNAL J. Lipid Res. 48 (11), 2478-2484 (2007) PUBMED 17715423 REMARK GeneRIF: Our findings demonstrate that the Arg92Cys polymorphism decreases the function of Cys92 colipase. This change may contribute to the development of type 2 diabetes. REFERENCE 6 (residues 1 to 71) AUTHORS van Tilbeurgh H, Sarda L, Verger R and Cambillau C. TITLE Structure of the pancreatic lipase-procolipase complex JOURNAL Nature 359 (6391), 159-162 (1992) PUBMED 1522902 REFERENCE 7 (residues 1 to 71) AUTHORS Sims HF and Lowe ME. TITLE The human colipase gene: isolation, chromosomal location, and tissue-specific expression JOURNAL Biochemistry 31 (31), 7120-7125 (1992) PUBMED 1643046 REFERENCE 8 (residues 1 to 71) AUTHORS Davis RC, Xia YR, Mohandas T, Schotz MC and Lusis AJ. TITLE Assignment of the human pancreatic colipase gene to chromosome 6p21.1 to pter JOURNAL Genomics 10 (1), 262-265 (1991) PUBMED 2045105 REFERENCE 9 (residues 1 to 71) AUTHORS Lowe ME, Rosenblum JL, McEwen P and Strauss AW. TITLE Cloning and characterization of the human colipase cDNA JOURNAL Biochemistry 29 (3), 823-828 (1990) PUBMED 2337598 REFERENCE 10 (residues 1 to 71) AUTHORS Sternby,B., Engstrom,A., Hellman,U., Vihert,A.M., Sternby,N.H. and Borgstrom,B. TITLE The primary sequence of human pancreatic colipase JOURNAL Biochim. Biophys. Acta 784 (1), 75-80 (1984) PUBMED 6691986 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP324927.1 and BP321569.1. Summary: The protein encoded by this gene is a cofactor needed by pancreatic lipase for efficient dietary lipid hydrolysis. It binds to the C-terminal, non-catalytic domain of lipase, thereby stabilizing an active conformation and considerably increasing the overall hydrophobic binding site. The gene product allows lipase to anchor noncovalently to the surface of lipid micelles, counteracting the destabilizing influence of intestinal bile salts. This cofactor is only expressed in pancreatic acinar cells, suggesting regulation of expression by tissue-specific elements. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]. 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BP321569.1, AW583243.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..71 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p21.31" Protein 1..71 /product="colipase isoform 3 preproprotein" /note="colipase, pancreatic; pancreatic colipase preproprotein" /calculated_mol_wt=5817 sig_peptide 1..17 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1860 proprotein 18..71 /product="colipase isoform 3 proprotein" /calculated_mol_wt=5817 Region 18..71 /region_name="COLIPASE" /note="Colipase; smart00023" /db_xref="CDD:128339" mat_peptide 23..71 /product="colipase isoform 3" /calculated_mol_wt=5338 CDS 1..71 /gene="CLPS" /coded_by="NM_001252598.2:36..251" /note="isoform 3 preproprotein is encoded by transcript variant 3" /db_xref="CCDS:CCDS75438.1" /db_xref="GeneID:1208" /db_xref="HGNC:HGNC:2085" /db_xref="MIM:120105" ORIGIN 1 mekililllv alsvayaapg prgiiinltl ygiyykcpce rgltcegdkt ivgsitntnf 61 gichdagrsk q // LOCUS NP_001372342 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372342 VERSION NP_001372342.1 DBSOURCE REFSEQ: accession NM_001385413.1 KEYWORDS RefSeq. SOURCE Homo 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 :: SRR1660809.175577.1 [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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385413.1:848..2860" /note="isoform 1 is encoded by transcript variant 19" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001342142 312 aa linear PRI 30-AUG-2020 DEFINITION putative olfactory receptor 10D3 [Homo sapiens]. ACCESSION NP_001342142 VERSION NP_001342142.1 DBSOURCE REFSEQ: accession NM_001355213.2 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 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AP000818.4. 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## 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="11q24.2" Protein 1..312 /product="putative olfactory receptor 10D3" /note="olfactory receptor, family 10, subfamily D, member 3 pseudogene; olfactory receptor OR11-293; seven transmembrane helix receptor; olfactory receptor, family 10, subfamily D, member 3 (non-functional); olfactory receptor family 10 subfamily D member 3 (putative)" /calculated_mol_wt=34681 Region 25..299 /region_name="7tmA_OR10D-like" /note="olfactory receptor subfamily 10D and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors; cd15228" /db_xref="CDD:320356" Region 26..52 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:320356" Site 27..47 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH80.1)" Site 58..78 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH80.1)" Region 59..85 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320356" 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, 266..267,269..271,274,277..278) /site_type="other" /note="putative ligand binding pocket [chemical binding]" /db_xref="CDD:320356" Region 97..127 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320356" Site 98..118 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH80.1)" Region 140..161 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320356" Site 140..160 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH80.1)" Region 195..225 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320356" Site 198..218 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH80.1)" Region 232..262 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320356" Site 240..260 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH80.1)" Region 267..292 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320356" Site 267..287 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NH80.1)" CDS 1..312 /gene="OR10D3" /gene_synonym="HTPCRX09; OR10D3P" /coded_by="NM_001355213.2:177..1115" /db_xref="CCDS:CCDS86257.1" /db_xref="GeneID:26497" /db_xref="HGNC:HGNC:8168" ORIGIN 1 mevknccmvt efillgipht eglemtlfvl flpfyactll gnvsilvavm ssarlhtpmy 61 fflgnlsvfd mgfssvtcpk mllylmglsr lisykdcvcq lfffhflgsi ecflftvmay 121 drftaicypl rytvimnpri cvalavgtwl lgcihssilt sltftlpycg pnevdhffcd 181 ipallplaca dtslaqrvsf tnvglislvc fllillsytr itisilsirt tegrrrafst 241 csahliailc aygpiitvyl qptpnpmlgt vvqilmnlvg pmlnpliytl rnkevktalk 301 tilhrtghvp es // LOCUS NP_001372367 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372367 VERSION NP_001372367.1 DBSOURCE REFSEQ: accession NM_001385438.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385438.1:653..2665" /note="isoform 1 is encoded by transcript variant 44" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001307156 529 aa linear PRI 30-AUG-2020 DEFINITION 60S ribosomal export protein NMD3 isoform 1 [Homo sapiens]. ACCESSION NP_001307156 VERSION NP_001307156.1 DBSOURCE REFSEQ: accession NM_001320227.2 KEYWORDS RefSeq. SOURCE Homo 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 Wu H, Li H, Shi Z, Tang J, Mei S, Ai T and He Z. TITLE Association between NMD3 and symptoms of Parkinson's disease in Chinese patients JOURNAL BMC Neurol 20 (1), 19 (2020) PUBMED 31937261 REMARK GeneRIF: The recessive and overdominant model of NMD3 rs34016896 was associated with cognitive impairment in Parkinson's disease patients. Publication Status: Online-Only REFERENCE 2 (residues 1 to 529) AUTHORS Chen Y, Cao B, Ou R, Wei Q, Chen X, Zhao B, Wu Y, Song W and Shang HF. TITLE Determining the Effect of the HNMT, STK39, and NMD3 Polymorphisms on the Incidence of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Multiple System Atrophy in Chinese Populations JOURNAL J. Mol. Neurosci. 64 (4), 574-580 (2018) PUBMED 29564728 REMARK GeneRIF: The presence of the rs34016896 allele in the NMD3 gene may contribute to the development of synucleinopathies. REFERENCE 3 (residues 1 to 529) AUTHORS Bai B, Moore HM and Laiho M. TITLE CRM1 and its ribosome export adaptor NMD3 localize to the nucleolus and affect rRNA synthesis JOURNAL Nucleus 4 (4), 315-325 (2013) PUBMED 23782956 REMARK GeneRIF: The CRM1 and NMD3 have complex functions in pathways that couple rRNA synthetic and processing engines and that the rRNA synthesis rate may be adjusted according to proficiency in rRNA processing and export. REFERENCE 4 (residues 1 to 529) 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 529) 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 529) 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 529) AUTHORS Thomas F and Kutay U. TITLE Biogenesis and nuclear export of ribosomal subunits in higher eukaryotes depend on the CRM1 export pathway JOURNAL J. Cell. Sci. 116 (Pt 12), 2409-2419 (2003) PUBMED 12724356 REFERENCE 8 (residues 1 to 529) AUTHORS Trotta CR, Lund E, Kahan L, Johnson AW and Dahlberg JE. TITLE Coordinated nuclear export of 60S ribosomal subunits and NMD3 in vertebrates JOURNAL EMBO J. 22 (11), 2841-2851 (2003) PUBMED 12773398 REMARK GeneRIF: contains a CRM-1-dependent leucine-rich nuclear export signal and a complex, dispersed nuclear localization signal (NMD3) COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB480542.1, AK225664.1 and AC108738.6. Summary: Ribosomal 40S and 60S subunits associate in the nucleolus and are exported to the cytoplasm. The protein encoded by this gene is involved in the passage of the 60S subunit through the nuclear pore complex and into the cytoplasm. Several transcript variants exist for this gene, but the full-length natures of only two have been described to date. [provided by RefSeq, Feb 2016]. Transcript Variant: This variant (1) encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: AK225664.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..529 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q26.1" Protein 1..529 /product="60S ribosomal export protein NMD3 isoform 1" /note="hNMD3; NMD3 homolog; 60S ribosomal export protein NMD3" /calculated_mol_wt=59995 Site 1 /site_type="acetylation" /note="N-acetylmethionine. /evidence=ECO:0000244|PubMed:19413330, ECO:0000244|PubMed:22814378; propagated from UniProtKB/Swiss-Prot (Q96D46.1)" Region 9..388 /region_name="NMD3" /note="NMD protein affecting ribosome stability and mRNA decay [Translation, ribosomal structure and biogenesis]; COG1499" /db_xref="CDD:224416" Region 17..246 /region_name="NMD3" /note="NMD3 family; pfam04981" /db_xref="CDD:282790" Site 258 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q96D46.1)" Region 379..>521 /region_name="HGTP_anticodon" /note="HGTP anticodon binding domain, as found at the C-terminus of histidyl, glycyl, threonyl and prolyl tRNA synthetases, which are classified as a group of class II aminoacyl-tRNA synthetases (aaRS). In aaRSs, the anticodon binding domain is responsible for...; cl00266" /db_xref="CDD:294191" Region 405..422 /region_name="Nuclear and nucleolar localization signal" /note="propagated from UniProtKB/Swiss-Prot (Q96D46.1)" Site 433 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000244|PubMed:18669648; propagated from UniProtKB/Swiss-Prot (Q96D46.1)" Site 468 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:19690332, ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q96D46.1)" Site 470 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:19690332, ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:21406692, ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q96D46.1)" Region 480..489 /region_name="Nuclear export signal" /note="propagated from UniProtKB/Swiss-Prot (Q96D46.1)" CDS 1..529 /gene="NMD3" /gene_synonym="CGI-07" /coded_by="NM_001320227.2:120..1709" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS82870.1" /db_xref="GeneID:51068" /db_xref="HGNC:HGNC:24250" /db_xref="MIM:611021" ORIGIN 1 meymaestdr spghilccec gvpispnpan icvaclrskv disqgipkqv sisfckqcqr 61 yfqppgtwiq calesrella lclkkikapl skvrlvdagf vwtephskrl kvkltiqkev 121 mngailqqvf vvdyvvqsqm cgdchrveak dfwkaviqvr qktlhkktfy yleqlilkyg 181 mhqntlrike ihdgldfyys skqhaqkmve flqctvpcry kasqrlisqd ihsntynyks 241 tfsveivpic kdnvvclspk laqslgnmnq icvcirvtsa ihlidpntlq vadidgstfw 301 shpfnslchp kqleefivme csivqdikra agagmiskkh tlgevwvqkt semntdkqyf 361 crthlghlln pgdlvlgfdl ancnlndehv nkmnsdrvpd vvlikksydr tkrqrrrnwk 421 lkelareren mdtdderqyq dfledleede airknvniyr dsaipvesdt ddegaprisl 481 aemledlhis qdatgeeaks apeaadlese vtegpsvvvd acnpstlgg // LOCUS NP_001372335 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372335 VERSION NP_001372335.1 DBSOURCE REFSEQ: accession NM_001385406.1 KEYWORDS RefSeq. SOURCE Homo 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 :: SRR1803613.152074.1 [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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385406.1:1451..3463" /note="isoform 1 is encoded by transcript variant 12" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001273749 279 aa linear PRI 30-AUG-2020 DEFINITION protein FRG2 isoform 1 [Homo sapiens]. ACCESSION NP_001273749 XP_005263081 XP_005277026 VERSION NP_001273749.1 DBSOURCE REFSEQ: accession NM_001286820.2 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 279) AUTHORS Lemmers RJ, Goeman JJ, van der Vliet PJ, van Nieuwenhuizen MP, Balog J, Vos-Versteeg M, Camano P, Ramos Arroyo MA, Jerico I, Rogers MT, Miller DG, Upadhyaya M, Verschuuren JJ, Lopez de Munain Arregui A, van Engelen BG, Padberg GW, Sacconi S, Tawil R, Tapscott SJ, Bakker B and van der Maarel SM. TITLE Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2 JOURNAL Hum. Mol. Genet. 24 (3), 659-669 (2015) PUBMED 25256356 REMARK GeneRIF: Study showed that the variability in clinical severity of facioscapulohumeral muscular dystrophy in FSHD1 and FSHD2 individuals is dependent on individual differences in susceptibility to D4Z4 hypomethylation. REFERENCE 2 (residues 1 to 279) AUTHORS Cheli S, Francois S, Bodega B, Ferrari F, Tenedini E, Roncaglia E, Ferrari S, Ginelli E and Meneveri R. TITLE Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns JOURNAL PLoS ONE 6 (6), e20966 (2011) PUBMED 21695143 REMARK GeneRIF: new insights into the gene deregulation characterizing both FSHD-1 and FSHD-2, in which miRNAs may play a role REFERENCE 3 (residues 1 to 279) AUTHORS de Greef JC, Lemmers RJ, Camano P, Day JW, Sacconi S, Dunand M, van Engelen BG, Kiuru-Enari S, Padberg GW, Rosa AL, Desnuelle C, Spuler S, Tarnopolsky M, Venance SL, Frants RR, van der Maarel SM and Tawil R. TITLE Clinical features of facioscapulohumeral muscular dystrophy 2 JOURNAL Neurology 75 (17), 1548-1554 (2010) PUBMED 20975055 REMARK GeneRIF: Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process. REFERENCE 4 (residues 1 to 279) AUTHORS Rijkers T, Deidda G, van Koningsbruggen S, van Geel M, Lemmers RJ, van Deutekom JC, Figlewicz D, Hewitt JE, Padberg GW, Frants RR and van der Maarel SM. TITLE FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients JOURNAL J. Med. Genet. 41 (11), 826-836 (2004) PUBMED 15520407 REMARK GeneRIF: FRG2 is upregulated in differentiating myoblast cultures of autosomal dominant facioscapulohumeral muscular dystrophy patients. REFERENCE 5 (residues 1 to 279) AUTHORS Gabellini D, Green MR and Tupler R. TITLE Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle JOURNAL Cell 110 (3), 339-348 (2002) PUBMED 12176321 REFERENCE 6 (residues 1 to 279) AUTHORS van Geel M, Dickson MC, Beck AF, Bolland DJ, Frants RR, van der Maarel SM, de Jong PJ and Hewitt JE. TITLE Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin JOURNAL Genomics 79 (2), 210-217 (2002) PUBMED 11829491 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AF146191.1. On or before Nov 16, 2013 this sequence version replaced XP_005263081.1, XP_005277026.1. ##Evidence-Data-START## Transcript exon combination :: BC144572.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..279 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q35.2" Protein 1..279 /product="protein FRG2 isoform 1" /note="FSHD region gene 2 protein; protein FRG2" /calculated_mol_wt=30430 Region 62..242 /region_name="FRG2" /note="Facioscapulohumeral muscular dystrophy candidate 2; pfam15315" /db_xref="CDD:291961" CDS 1..279 /gene="FRG2" /gene_synonym="FRG2A" /coded_by="NM_001286820.2:53..892" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS68834.1" /db_xref="GeneID:448831" /db_xref="HGNC:HGNC:19136" /db_xref="MIM:609032" ORIGIN 1 mgkgnedsdl hcssiqcstd qppfqqisft ekgsdekkpf kekgktafsh ssekhiqrqa 61 gsepnpnken seetklkagn stagsepess syrencrkrk msskdscqdt agncpekecs 121 lslnkksrss tavhnseiqe tcdahhrghs ractghskrh rsralgvqtp sirkslvtsv 181 ramseavyqd laqvwaqqih spltceqltl ltrlrgplca qvqtlysmat qaayvfpaes 241 wlvpatlpgp gesaldreah pfpgqeitet vsgsdeakl // LOCUS NP_001372368 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372368 VERSION NP_001372368.1 DBSOURCE REFSEQ: accession NM_001385439.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: SRR7346977.1980367.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385439.1:990..3002" /note="isoform 1 is encoded by transcript variant 45" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001004464 311 aa linear PRI 30-AUG-2020 DEFINITION olfactory receptor 10G8 [Homo sapiens]. ACCESSION NP_001004464 XP_166776 VERSION NP_001004464.1 DBSOURCE REFSEQ: accession NM_001004464.2 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 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] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AP001884.4. On Sep 18, 2004 this sequence version replaced XP_166776.4. 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## 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 10G8" /note="olfactory receptor OR11-282; olfactory receptor OR11-274 pseudogene" /calculated_mol_wt=34388 Site 3 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8NGN5.1)" Region 23..291 /region_name="7tm_GPCRs" /note="seven-transmembrane G protein-coupled receptor superfamily; cl28897" /db_xref="CDD:333717" Site 24..44 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN5.1)" Region 25..49 /region_name="TM helix 1" /note="TM helix 1 [structural motif]" /db_xref="CDD:320095" Site 53..73 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN5.1)" Region 58..80 /region_name="TM helix 2" /note="TM helix 2 [structural motif]" /db_xref="CDD:320095" Region 97..119 /region_name="TM helix 3" /note="TM helix 3 [structural motif]" /db_xref="CDD:320095" Site 99..119 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN5.1)" Site 139..159 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN5.1)" Region 142..158 /region_name="TM helix 4" /note="TM helix 4 [structural motif]" /db_xref="CDD:320095" Region 195..218 /region_name="TM helix 5" /note="TM helix 5 [structural motif]" /db_xref="CDD:320095" Site 197..216 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN5.1)" Region 234..259 /region_name="TM helix 6" /note="TM helix 6 [structural motif]" /db_xref="CDD:320095" Site 237..257 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN5.1)" Region 266..291 /region_name="TM helix 7" /note="TM helix 7 [structural motif]" /db_xref="CDD:320095" Site 269..289 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8NGN5.1)" CDS 1..311 /gene="OR10G8" /gene_synonym="OR11-274; OR11-282" /coded_by="NM_001004464.2:98..1033" /db_xref="CCDS:CCDS31704.1" /db_xref="GeneID:219869" /db_xref="HGNC:HGNC:14845" ORIGIN 1 msnaslltaf ilmglphapa ldaplfgvfl vvyvltvlgn llillvirvd shlhttmyyf 61 ltnlsfidmw fstvtvpkll mtlvfpsgra isfhscmaql yffhflggte cflyrvmscd 121 rylaisyplr ytsmmtgrsc tllatstwls gslhsavqai ltfhlpycgp nwiqhylcda 181 ppilklacad tsaietvifv tvgivasgcf vlivlsyvsi vcsilrirts egkhrafqtc 241 ashcivvlcf fgpglfiylr pgsrkavdgv vavfytvltp llnpvvytlr nkevkkallk 301 lkdkvahsqs k // LOCUS NP_001372305 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372305 VERSION NP_001372305.1 DBSOURCE REFSEQ: accession NM_001385376.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: BC023087.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385376.1:1021..3033" /note="isoform 1 is encoded by transcript variant 6" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001036170 159 aa linear PRI 30-AUG-2020 DEFINITION IQ domain-containing protein J isoform CaMBPv1 [Homo sapiens]. ACCESSION NP_001036170 VERSION NP_001036170.1 DBSOURCE REFSEQ: accession NM_001042705.3 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 159) 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), E257 (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 2 (residues 1 to 159) 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 3 (residues 1 to 159) 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 4 (residues 1 to 159) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA305468.1, DQ309553.1 and AK309049.1. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (CaMBPv1). ##Evidence-Data-START## Transcript exon combination :: DQ309553.1, BC137469.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..159 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q25.32" Protein 1..159 /product="IQ domain-containing protein J isoform CaMBPv1" /note="calmodulin binding protein; IQ domain-containing protein J" /calculated_mol_wt=18095 Region 4..155 /region_name="IQCJ-SCHIP1" /note="Fusion protein IQCJ-SCHIP1 with IQ-like motif; pfam15157" /db_xref="CDD:291814" CDS 1..159 /gene="IQCJ" /coded_by="NM_001042705.3:115..594" /note="isoform CaMBPv1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS46946.1" /db_xref="GeneID:654502" /db_xref="HGNC:HGNC:32406" /db_xref="MIM:611622" ORIGIN 1 mrleelkrlq npleqvndgk ysfenhqlam daenniekyp lnlqpleskv kiiqrawrey 61 lqrqeplgkr spsppsvsse klsssvsmnt fsdsstpfar apvgkihpyi swrlqspgdk 121 lpggrkvill yldqlarptg fihtlkepqi erlgfltlq // LOCUS NP_072091 872 aa linear PRI 30-AUG-2020 DEFINITION bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4 [Homo sapiens]. ACCESSION NP_072091 VERSION NP_072091.1 DBSOURCE REFSEQ: accession NM_022569.3 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 872) AUTHORS Li YJ, Yin FX, Zhang XK, Yu J, Zheng S, Song XL, Wang FS and Sheng JZ. TITLE Characterization of heparan sulfate N-deacetylase/N-sulfotransferase isoform 4 using synthetic oligosaccharide substrates JOURNAL Biochim Biophys Acta Gen Subj 1862 (3), 547-556 (2018) PUBMED 29158133 REMARK GeneRIF: Highly-purified recombinant NDST-4 and a selective library of structurally-defined oligosaccharides were employed to determine the substrate specificity of rNDST-4. Full-length rNDST-4 lacks obvious N-deacetylase activity, and displays only N-sulfotransferase activity. NDST-4 did not show directional N-sulfotransferase activity while the N-deacetylase domain was inactive. REFERENCE 2 (residues 1 to 872) AUTHORS Pan Y, Luo X, Liu X, Wu LY, Zhang Q, Wang L, Wang W, Zuo L and Wang KS. TITLE Genome-wide association studies of maximum number of drinks JOURNAL J Psychiatr Res 47 (11), 1717-1724 (2013) PUBMED 23953852 REMARK GeneRIF: The rs12108602 near NDST4 showed significant associations with MaxDrinks. REFERENCE 3 (residues 1 to 872) AUTHORS Wang H, St Julien KR, Stevenson DK, Hoffmann TJ, Witte JS, Lazzeroni LC, Krasnow MA, Quaintance CC, Oehlert JW, Jelliffe-Pawlowski LL, Gould JB, Shaw GM and O'Brodovich HM. TITLE A genome-wide association study (GWAS) for bronchopulmonary dysplasia JOURNAL Pediatrics 132 (2), 290-297 (2013) PUBMED 23897914 REFERENCE 4 (residues 1 to 872) AUTHORS Tzeng ST, Tsai MH, Chen CL, Lee JX, Jao TM, Yu SL, Yen SJ and Yang YC. TITLE NDST4 is a novel candidate tumor suppressor gene at chromosome 4q26 and its genetic loss predicts adverse prognosis in colorectal cancer JOURNAL PLoS ONE 8 (6), e67040 (2013) PUBMED 23825612 REMARK GeneRIF: NDST4 gene is a novel candidate tumor suppressor gene in human cancer. Publication Status: Online-Only REFERENCE 5 (residues 1 to 872) AUTHORS Qi Q, Menzaghi C, Smith S, Liang L, de Rekeneire N, Garcia ME, Lohman KK, Miljkovic I, Strotmeyer ES, Cummings SR, Kanaya AM, Tylavsky FA, Satterfield S, Ding J, Rimm EB, Trischitta V, Hu FB, Liu Y and Qi L. TITLE Genome-wide association analysis identifies TYW3/CRYZ and NDST4 loci associated with circulating resistin levels JOURNAL Hum. Mol. Genet. 21 (21), 4774-4780 (2012) PUBMED 22843503 REMARK GeneRIF: Our results suggest that genetic variants in TYW3/CRYZ and NDST4 loci may be involved in the regulation of circulating resistin levels REFERENCE 6 (residues 1 to 872) 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 7 (residues 1 to 872) AUTHORS Aikawa J, Grobe K, Tsujimoto M and Esko JD. TITLE Multiple isozymes of heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase. Structure and activity of the fourth member, NDST4 JOURNAL J. Biol. Chem. 276 (8), 5876-5882 (2001) PUBMED 11087757 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB036429.1, BC012326.1, AK289670.1 and AC110777.3. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.260201.1, SRR1803612.146520.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2157437, SAMN03267773 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000264363.7/ ENSP00000264363.2 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="4" /map="4q26" Protein 1..872 /product="bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4" /EC_number="2.8.2.8" /note="N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4; glucosaminyl N-deacetylase/N-sulfotransferase 4; N-heparan sulfate sulfotransferase 4" /calculated_mol_wt=100585 Site 14..34 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H3R1.1)" Region 20..505 /region_name="HSNSD" /note="heparan sulfate-N-deacetylase; pfam12062" /db_xref="CDD:288882" Region 36..588 /region_name="Heparan sulfate N-deacetylase 4" /note="propagated from UniProtKB/Swiss-Prot (Q9H3R1.1)" Site 226 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H3R1.1)" Site 341 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H3R1.1)" Site 391 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H3R1.1)" Region 589..872 /region_name="Heparan sulfate N-sulfotransferase 4" /note="propagated from UniProtKB/Swiss-Prot (Q9H3R1.1)" Region 594..845 /region_name="Sulfotransfer_1" /note="Sulfotransferase domain; pfam00685" /db_xref="CDD:279075" Site 657 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H3R1.1)" Site 793 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H3R1.1)" CDS 1..872 /gene="NDST4" /gene_synonym="N-HSST; N-HSST 4; NDST-4; NHSST4" /coded_by="NM_022569.3:424..3042" /db_xref="CCDS:CCDS3706.1" /db_xref="GeneID:64579" /db_xref="HGNC:HGNC:20779" /db_xref="MIM:615039" ORIGIN 1 mnlivklrrs frtlivllat fclvsivisa yflysgykqe mtliettaea ectdikilpy 61 rsmelktvkp idtsktdptv llfvesqysq lgqdiiaile ssrfqyhmvi apgkgdippl 121 tdngkgkytl viyenilkyv smdswnrell ekycveysvs iigfhkanen slpstqlkgf 181 plnlfnnlal kdcfvnpqsp llhitkapkv ekgplpgedw tifqynhsty qpvlltelqt 241 ekslsslssk tlfatviqdl glhdgiqrvl fgnnlnfwlh klifidaisf lsgkrltlsl 301 dryilvdidd ifvgkegtrm nvkdvkalle tqnllrtqva nftfnlgfsg kfyhtgteee 361 degddlllrs vdefwwfphm wshmqphlfh nesslveqmi lnkefalehg ipinmgyava 421 phhsgvypvh iqlyaawkkv wgiqvtstee yphlkparyr kgfihnsimv lprqtcglft 481 htifykeypg gpqeldksir ggelfltill npisifmthl snygndrlgl ytfvnlvnfv 541 qswtnlklqt lppvqlahqy felfpeqkdp lwqnpcddkr hkdiwsrekt cdhlpkflvi 601 gpqktgttal ylfllmhpsi isnlpspktf eevqffngnn yhkgidwymd ffptpsntts 661 dflfeksany fhseeaprra aslvpkakii tilidpsdra yswyqhqrsh edpaalrfnf 721 yevistghwa psdlktlqrr clvpgwyavh ierwltyfat sqlliidgqq lrsdpatvmd 781 evqkflgvtp rynysealtf dpqkgfwcql leggktkclg kskgrkyppm dpesrtflsn 841 yyrdhnvels kllhrlgqpl pswlrqelqk vr // LOCUS NP_001372377 698 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 4 [Homo sapiens]. ACCESSION NP_001372377 VERSION NP_001372377.1 DBSOURCE REFSEQ: accession NM_001385448.1 KEYWORDS RefSeq. SOURCE Homo 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 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 698) 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 698) 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 698) 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 :: SRR7410570.26752.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..698 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q21.1" Protein 1..698 /product="neuroblastoma breakpoint family member 15 isoform 4" /note="neuroblastoma breakpoint family member 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=80592 CDS 1..698 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385448.1:594..2690" /note="isoform 4 is encoded by transcript variant 54" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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 pvsprgmdea gnhhsqqtia rtknqiphvl 301 thrnlqesee eevpqeswde gystlsippe mlasyqsyss tfhsleeqqv cmavdigrhr 361 wdqvkkedqe atgprlsrel ldekepevlq dsldrcystp sgcleltdsc qpyrsafyvl 421 eqqrvglaid mdeiekyqev eedqdpscpr lsrelldeke pevlqdsldr cystpsdyle 481 lpdlgqpyss avysleeqyl glaldvdrik kdqeeeedqg ppcprlsrel levvepevlq 541 dsldrcystp sscleqpdsc qpygssfyal eekhvgfsld vgeiekkgkg kkrrgrrskk 601 krrrgrkege ddnppcprly gvlmeveepe vlqdsldrcy stpsmyfeqp dsfqhyrsvf 661 ysfeeehisf alyvdnrfft ltvtslhlvf qmgvifpq // LOCUS NP_001372345 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372345 VERSION NP_001372345.1 DBSOURCE REFSEQ: accession NM_001385416.1 KEYWORDS RefSeq. SOURCE Homo 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 :: SRR1803613.39984.1 [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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385416.1:691..2703" /note="isoform 1 is encoded by transcript variant 22" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_064509 207 aa linear PRI 30-AUG-2020 DEFINITION interferon kappa precursor [Homo sapiens]. ACCESSION NP_064509 VERSION NP_064509.2 DBSOURCE REFSEQ: accession NM_020124.3 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 207) AUTHORS Scott ML, Woodby BL, Ulicny J, Raikhy G, Orr AW, Songock WK and Bodily JM. TITLE Human Papillomavirus 16 E5 Inhibits Interferon Signaling and Supports Episomal Viral Maintenance JOURNAL J. Virol. 94 (2), e01582-19 (2020) PUBMED 31666385 REMARK GeneRIF: The loss of E5 in keratinocytes maintaining the complete HPV16 genome results in the derepression of IFNK transcription and subsequent JAK/STAT-dependent upregulation of several IFN-stimulated genes (ISGs) at both the mRNA and protein levels. Publication Status: Online-Only REFERENCE 2 (residues 1 to 207) AUTHORS Atschekzei F, Dork T, Schurmann P, Geffers R, Witte T and Schmidt RE. TITLE Limited role of interferon-kappa (IFNK) truncating mutations in common variable immunodeficiency JOURNAL Cytokine 96, 71-74 (2017) PUBMED 28324805 REMARK GeneRIF: investigation of common variable immunodeficiency (CVID) from 2 German families; report on the occurrence of a common and one novel truncating IFNK mutation in cases with CVID; the frequency distribution of c.30_31insTGTT in cases and controls as well as the observed segregation patterns in CVID families exclude IFNK mutations as major risk factor in CVID REFERENCE 3 (residues 1 to 207) AUTHORS Habiger C, Jager G, Walter M, Iftner T and Stubenrauch F. TITLE Interferon Kappa Inhibits Human Papillomavirus 31 Transcription by Inducing Sp100 Proteins JOURNAL J. Virol. 90 (2), 694-704 (2015) PUBMED 26491169 REMARK GeneRIF: These results suggest that high-risk human papillomavirus 31 target interferon kappa to prevent Sp100 expression and identify Sp100 as an interferon-stimulated gene with anti-human papillomavirus activity. Publication Status: Online-Only REFERENCE 4 (residues 1 to 207) AUTHORS Sunthamala N, Thierry F, Teissier S, Pientong C, Kongyingyoes B, Tangsiriwatthana T, Sangkomkamhang U and Ekalaksananan T. TITLE E2 proteins of high risk human papillomaviruses down-modulate STING and IFN-kappa transcription in keratinocytes JOURNAL PLoS ONE 9 (3), e91473 (2014) PUBMED 24614210 REMARK GeneRIF: This study demonstrates that E2 proteins of high risk human papillomavirus reduce STING and IFN-kappa transcription. Publication Status: Online-Only REFERENCE 5 (residues 1 to 207) AUTHORS Kerns SL, Stone NN, Stock RG, Rath L, Ostrer H and Rosenstein BS. TITLE A 2-stage genome-wide association study to identify single nucleotide polymorphisms associated with development of urinary symptoms after radiotherapy for prostate cancer JOURNAL J. Urol. 190 (1), 102-108 (2013) PUBMED 23376709 REFERENCE 6 (residues 1 to 207) 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 207) 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 8 (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 9 (residues 1 to 207) AUTHORS Nardelli B, Zaritskaya L, Semenuk M, Cho YH, LaFleur DW, Shah D, Ullrich S, Girolomoni G, Albanesi C and Moore PA. TITLE Regulatory effect of IFN-kappa, a novel type I IFN, on cytokine production by cells of the innate immune system JOURNAL J. Immunol. 169 (9), 4822-4830 (2002) PUBMED 12391192 REMARK GeneRIF: IFN-kappa is able to directly modulate cytokine release from monocytes and dendritic cells, inhibit inducible IL-12 release from monocytes, and bind strongly to heparin. REFERENCE 10 (residues 1 to 207) AUTHORS LaFleur DW, Nardelli B, Tsareva T, Mather D, Feng P, Semenuk M, Taylor K, Buergin M, Chinchilla D, Roshke V, Chen G, Ruben SM, Pitha PM, Coleman TA and Moore PA. TITLE Interferon-kappa, a novel type I interferon expressed in human keratinocytes JOURNAL J. Biol. Chem. 276 (43), 39765-39771 (2001) PUBMED 11514542 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL451123.12. On Aug 18, 2006 this sequence version replaced NP_064509.1. Summary: This gene encodes a member of the type I interferon family. Type I interferons are a group of related glycoproteins that play an important role in host defenses against viral infections. This protein is expressed in keratinocytes and the gene is found on chromosome 9, adjacent to the type I interferon cluster. [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 :: AF146759.2, AF315688.1 [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..207 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9p21.2" Protein 1..207 /product="interferon kappa precursor" /note="interferon-like protein; IFN-kappa" /calculated_mol_wt=22196 sig_peptide 1..27 /calculated_mol_wt=3041 mat_peptide 28..207 /product="interferon kappa" /calculated_mol_wt=22196 Site order(35..36,39,42..43,46,49..50,106..107,109..110, 112..113,116,119..120,123..124,127) /site_type="other" /note="putative IFNAR-1 binding site" /db_xref="CDD:238047" Region 38..197 /region_name="Interferon" /note="Interferon alpha/beta domain; pfam00143" /db_xref="CDD:278568" Site order(60..67,69..71,77..78,160..161,163..164,167..168, 170..171,174..179) /site_type="other" /note="putative IFNAR-2 binding site" /db_xref="CDD:238047" Site 107 /site_type="other" /note="N-glycosylation site [posttranslational modification]" /db_xref="CDD:238047" CDS 1..207 /gene="IFNK" /gene_synonym="IFNT1; INFE1" /coded_by="NM_020124.3:48..671" /db_xref="CCDS:CCDS6521.1" /db_xref="GeneID:56832" /db_xref="HGNC:HGNC:21714" /db_xref="MIM:615326" ORIGIN 1 mstkpdmiqk clwleilmgi fiagtlsldc nllnvhlrrv twqnlrhlss msnsfpvecl 61 reniafelpq eflqytqpmk rdikkafyem slqafnifsq htfkywkerh lkqiqigldq 121 qaeylnqcle edknenedmk emkenemkps earvpqlssl elrryfhrid nflkekkysd 181 caweivrvei rrclyyfykf talfrrk // LOCUS NP_001276087 600 aa linear PRI 30-AUG-2020 DEFINITION adhesion G protein-coupled receptor E3 isoform 2 precursor [Homo sapiens]. ACCESSION NP_001276087 XP_005260174 VERSION NP_001276087.1 DBSOURCE REFSEQ: accession NM_001289158.2 KEYWORDS RefSeq. SOURCE Homo 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 Hamann J, Aust G, Arac D, Engel FB, Formstone C, Fredriksson R, Hall RA, Harty BL, Kirchhoff C, Knapp B, Krishnan A, Liebscher I, Lin HH, Martinelli DC, Monk KR, Peeters MC, Piao X, Promel S, Schoneberg T, Schwartz TW, Singer K, Stacey M, Ushkaryov YA, Vallon M, Wolfrum U, Wright MW, Xu L, Langenhan T and Schioth HB. TITLE International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors JOURNAL Pharmacol. Rev. 67 (2), 338-367 (2015) PUBMED 25713288 REMARK Review article REFERENCE 2 (residues 1 to 600) AUTHORS Kane AJ, Sughrue ME, Rutkowski MJ, Phillips JJ and Parsa AT. TITLE EMR-3: a potential mediator of invasive phenotypic variation in glioblastoma and novel therapeutic target JOURNAL Neuroreport 21 (16), 1018-1022 (2010) PUBMED 20827226 REMARK GeneRIF: Given the poor survival associated with high levels of EMR-3 expression in glioma patients, impetus is provided to explore EMR-3 as a potential therapeutic target. REFERENCE 3 (residues 1 to 600) AUTHORS Plager DA, Kahl JC, Asmann YW, Nilson AE, Pallanch JF, Friedman O and Kita H. TITLE Gene transcription changes in asthmatic chronic rhinosinusitis with nasal polyps and comparison to those in atopic dermatitis JOURNAL PLoS ONE 5 (7), e11450 (2010) PUBMED 20625511 REMARK GeneRIF: Additional transcription changes likely associated with Th2-like eosinophilic inflammation were prominent and included increased EMR1&3. Publication Status: Online-Only REFERENCE 4 (residues 1 to 600) 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 600) AUTHORS Matmati M, Pouwels W, van Bruggen R, Jansen M, Hoek RM, Verhoeven AJ and Hamann J. TITLE The human EGF-TM7 receptor EMR3 is a marker for mature granulocytes JOURNAL J. Leukoc. Biol. 81 (2), 440-448 (2007) PUBMED 17108056 REMARK GeneRIF: The expression of EGF-TM7 receptors on myeloid cells is differentially regulated. EMR3 is the first family member found mainly on granulocytes. REFERENCE 6 (residues 1 to 600) AUTHORS Bjarnadottir TK, Fredriksson R, Hoglund PJ, Gloriam DE, Lagerstrom MC and Schioth HB. TITLE The human and mouse repertoire of the adhesion family of G-protein-coupled receptors JOURNAL Genomics 84 (1), 23-33 (2004) PUBMED 15203201 REFERENCE 7 (residues 1 to 600) AUTHORS Stacey M, Lin HH, Hilyard KL, Gordon S and McKnight AJ. TITLE Human epidermal growth factor (EGF) module-containing mucin-like hormone receptor 3 is a new member of the EGF-TM7 family that recognizes a ligand on human macrophages and activated neutrophils JOURNAL J. Biol. Chem. 276 (22), 18863-18870 (2001) PUBMED 11279179 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL832663.1, AY358817.1, AF239764.1, BC128053.1 and AK298653.1. On Jan 16, 2014 this sequence version replaced XP_005260174.1. Summary: This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor (EGF)-like domains coupled to a TM7 domain via a mucin-like spacer domain. This gene is closely linked to the gene encoding egf-like molecule containing mucin-like hormone receptor 2 on chromosome 19. This protein may play a role in myeloid-myeloid interactions during immune and inflammatory responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]. 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 isoform (2), compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: AY358817.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..600 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19p13.12" Protein 1..600 /product="adhesion G protein-coupled receptor E3 isoform 2 precursor" /note="egf-like module-containing mucin-like receptor 3; egf-like module containing, mucin-like, hormone receptor-like 3; EGF-like module receptor 3; EGF-like module-containing mucin-like hormone receptor-like 3" /calculated_mol_wt=64485 sig_peptide 1..22 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2319 Region 252..292 /region_name="GPS" /note="GPCR proteolysis site, GPS, motif; pfam01825" /db_xref="CDD:280071" Region 301..542 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" CDS 1..600 /gene="ADGRE3" /gene_synonym="EMR3" /coded_by="NM_001289158.2:75..1877" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS74297.1" /db_xref="GeneID:84658" /db_xref="HGNC:HGNC:23647" /db_xref="MIM:606101" ORIGIN 1 mqgplllpgl cfllslfgav tqktktscak cppnascvnn thctcnhgyt sgsgqklftf 61 pletcndtts skttegrkel qkivdkfesl ltnqtlwrte grqeisstat tilrdveskv 121 letalkdpeq kvlkiqndsv aietqaitdn cseerktfnl nvqmnsmdir csdiiqgdtq 181 gpsaiafisy sslgniinat ffeemdkkdq vylnsqvvsa aigpkrnvsl sksvtltfqh 241 vkmtpstkkv fcvywkstgq gsqwsrdgcf lihvnkshtm cncshlssfa vlmaltsqee 301 dpvltvityv glsvsllcll laaltfllck airntstslh lqlslclfla hllflvgidr 361 tepkvlcsii agalhylyla aftwmllegv hlfltarnlt vvnyssinrl mkwimfpvgy 421 gvpavtvais aaswphlygt adrcwlhldq gfmwsflgpv caifsanlvl filvfwilkr 481 klsslnsevs tiqntrmlaf kataqlfilg ctwclgllqv gpaaqvmayl ftiinslqgf 541 fiflvyclls qqvqkqyqkw freivkskse setytlsskm gpdskpsegd vfpgqvkrky // LOCUS NP_001372360 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372360 VERSION NP_001372360.1 DBSOURCE REFSEQ: accession NM_001385431.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385431.1:1145..3157" /note="isoform 1 is encoded by transcript variant 37" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001184029 132 aa linear PRI 30-AUG-2020 DEFINITION IQ domain-containing protein J isoform CaMBPv3 [Homo sapiens]. ACCESSION NP_001184029 VERSION NP_001184029.1 DBSOURCE REFSEQ: accession NM_001197100.2 KEYWORDS RefSeq. SOURCE Homo 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 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), E257 (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 2 (residues 1 to 132) 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 3 (residues 1 to 132) 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 4 (residues 1 to 132) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA305468.1 and AK309049.1. Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (CaMBPv3) that is shorter than isoform CaMBPv1. ##Evidence-Data-START## Transcript exon combination :: AK309049.1, BC144658.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..132 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q25.32" Protein 1..132 /product="IQ domain-containing protein J isoform CaMBPv3" /note="calmodulin binding protein; IQ domain-containing protein J" /calculated_mol_wt=14976 Region 4..128 /region_name="IQCJ-SCHIP1" /note="Fusion protein IQCJ-SCHIP1 with IQ-like motif; pfam15157" /db_xref="CDD:291814" CDS 1..132 /gene="IQCJ" /coded_by="NM_001197100.2:115..513" /note="isoform CaMBPv3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS56290.1" /db_xref="GeneID:654502" /db_xref="HGNC:HGNC:32406" /db_xref="MIM:611622" ORIGIN 1 mrleelkrlq npleqvndgk ysfeniqraw reylqrqepl gkrspsppsv sseklsssvs 61 mntfsdsstp farapvgkih pyiswrlqsp gdklpggrkv illyldqlar ptgfihtlke 121 pqierlgflt lq // LOCUS NP_733841 540 aa linear PRI 30-AUG-2020 DEFINITION testis-specific chromodomain protein Y 1 isoform a [Homo sapiens]. ACCESSION NP_733841 VERSION NP_733841.1 DBSOURCE REFSEQ: accession NM_170723.2 KEYWORDS RefSeq. SOURCE Homo 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 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 540) 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 540) 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 540) 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 540) 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 540) 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 540) 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 540) 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 540) 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 540) AUTHORS Fan,Y. and Silber,S.J. TITLE Y Chromosome Infertility JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K 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. 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 (1), also called the major transcript, is unspliced. It 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. FEATURES Location/Qualifiers source 1..540 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="Y" /map="Yq11.23" Protein 1..540 /product="testis-specific chromodomain protein Y 1 isoform a" /EC_number="2.3.1.48" /note="testis-specific chromodomain protein on Y; chromodomain protein, Y chromosome, 1; chromodomain protein, Y-linked, 1; testis-specific chromodomain protein Y 1" /calculated_mol_wt=60342 Region 5..58 /region_name="CHROMO" /note="Chromatin organization modifier domain; smart00298" /db_xref="CDD:214605" Site order(6,26,28,31,35,39,43..44) /site_type="other" /note="histone binding site" /db_xref="CDD:237991" 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="other" /note="oxyanion hole (OAH) forming residues" /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..540 /gene="CDY1" /gene_synonym="CDY; CDY1A" /coded_by="NM_170723.2:327..1949" /note="isoform a is encoded by transcript variant 1" /db_xref="CCDS:CCDS14802.1" /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 kyvenkidef // LOCUS NP_001297065 432 aa linear PRI 30-AUG-2020 DEFINITION nuclear pore complex-interacting protein family member B8 [Homo sapiens]. ACCESSION NP_001297065 XP_016879113 VERSION NP_001297065.1 DBSOURCE REFSEQ: accession NM_001310136.2 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 432) 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 AC020765.8 and AC145285.2. On Jul 30, 2020 this sequence version replaced XP_016879113.1. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.340631.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..432 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p11.2" Protein 1..432 /product="nuclear pore complex-interacting protein family member B8" /calculated_mol_wt=49486 Region <1..41 /region_name="AFD_class_I" /note="Adenylate forming domain, Class I superfamily; cl17068" /db_xref="CDD:327384" Region 41..239 /region_name="NPIP" /note="Nuclear pore complex interacting protein (NPIP); pfam06409" /db_xref="CDD:310774" CDS 1..432 /gene="NPIPB8" /coded_by="NM_001310136.2:125..1423" /db_xref="CCDS:CCDS81963.1" /db_xref="GeneID:728734" /db_xref="HGNC:HGNC:37490" ORIGIN 1 mvklsivltp qflshdqgql tkelqqhvks vtcpceylrk vinslavyrh retdfgvgvr 61 dhpgqhgktp spqkldnlii iiigflrcyt fnilfctscl cvsflktifw srnghdgsmd 121 vqqrawrsnr srqkglrsic mhtkkrvssf rgnkiglkdv itlrrhvetk vrakirkrkv 181 ttkinrhdki ngkrktarkq kmfqraqelr rraedyhkck ippsarkplc nwvrmaaaeh 241 rhssglpywl yltaetlknr mgrqpppptq qhsitdnsls lktppecllt plppsvddni 301 kecplaplpp splppsvddn lkeclfvplp psplppsvdd nlkeclfvpl ppsplppsvd 361 dnlktpplat qeaevekppk pkrwrvdeve qspkpkrqre aeaqqlpkpk rrrlsklrtr 421 hctqawairi np // LOCUS NP_001372333 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372333 VERSION NP_001372333.1 DBSOURCE REFSEQ: accession NM_001385404.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: SRR7346977.1980367.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385404.1:1108..3120" /note="isoform 1 is encoded by transcript variant 10" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372359 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372359 VERSION NP_001372359.1 DBSOURCE REFSEQ: accession NM_001385430.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: BC023087.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385430.1:1164..3176" /note="isoform 1 is encoded by transcript variant 36" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372341 670 aa linear PRI 30-AUG-2020 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 :: 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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 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="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001293070 402 aa linear PRI 30-AUG-2020 DEFINITION speedy protein E5 [Homo sapiens]. ACCESSION NP_001293070 XP_005250425 VERSION NP_001293070.1 DBSOURCE REFSEQ: accession NM_001306141.2 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 402) 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 AC211429.4. On Apr 15, 2015 this sequence version replaced XP_005250425.2. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence because no single transcript was available for the full length of the gene. The exon combination of this RefSeq is inferred based on paralogous transcript alignments. CCDS Note: This gene lacks best hit full-length transcript support, and therefore the exon combination of this CCDS representation is inferred from paralogous transcript alignments. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology 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="7" /map="7q11.23" Protein 1..402 /product="speedy protein E5" /note="speedy homolog E5; putative Speedy protein E5" /calculated_mol_wt=47866 Region <13..90 /region_name="DUF3664" /note="Surface protein; pfam12406" /db_xref="CDD:289191" Region 194..398 /region_name="Spy1" /note="Cell cycle regulatory protein; pfam11357" /db_xref="CDD:314328" CDS 1..402 /gene="SPDYE5" /coded_by="NM_001306141.2:424..1632" /db_xref="CCDS:CCDS78241.1" /db_xref="GeneID:442590" /db_xref="HGNC:HGNC:35464" ORIGIN 1 mdrtetrfrk rgqitekitt srqpqpqneq spqrstsgyp lqevvddevl gpsapgvdps 61 ppcrslgwkr krewsdesae epekelapep eetwvvemlc glkmklkqqr vspilpehhk 121 gfnsqlapgv dpspphrsfc wkrkmewwde seesleeepr kvlapepeei wvaemlcglk 181 mklkrrrvsl vlpehheafn rlledpvikr flawdkdlrv sdkyllamvi ayfsragfps 241 wqyqrihffl alylandmee ddedskqnif hflygknrsr ipllrkrwfq lgrsmnprar 301 kkrsripllr krrfqlgrsm nprarknrsr ipllrkrrfq lgrsmnlrar knrsqivlfq 361 krrfqffcsm sgrawvspee leeiqaydpe hwvwardrah ls // LOCUS NP_001372365 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372365 VERSION NP_001372365.1 DBSOURCE REFSEQ: accession NM_001385436.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385436.1:1318..3330" /note="isoform 1 is encoded by transcript variant 42" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001071174 904 aa linear PRI 30-AUG-2020 DEFINITION epithelial cell-transforming sequence 2 oncogene-like [Homo sapiens]. ACCESSION NP_001071174 XP_294019 XP_946229 VERSION NP_001071174.1 DBSOURCE REFSEQ: accession NM_001077706.3 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 904) AUTHORS Rose JE, Behm FM, Drgon T, Johnson C and Uhl GR. TITLE Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score JOURNAL Mol. Med. 16 (7-8), 247-253 (2010) PUBMED 20379614 REMARK GeneRIF: Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) Erratum:[Mol Med. 2012;18(1):729] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL121834.20. On or before Nov 20, 2006 this sequence version replaced XP_294019.5, XP_946229.2. ##Evidence-Data-START## CDS exon combination :: DQ904331.1, BC146884.1 [ECO:0000331] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..904 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6q24.1" Protein 1..904 /product="epithelial cell-transforming sequence 2 oncogene-like" /note="ECT2-like; lung specific F-box and DH domain containing protein; putative guanine nucleotide exchange factor LFDH; F-box protein 49" /calculated_mol_wt=104749 Region 81..118 /region_name="F-box-like" /note="F-box-like; pfam12937" /db_xref="CDD:315592" Region 292..459 /region_name="DUF4347" /note="Domain of unknown function (DUF4347); pfam14252" /db_xref="CDD:316745" Region 570..752 /region_name="RhoGEF" /note="RhoGEF domain; pfam00621" /db_xref="CDD:306973" Site order(573,577,675,703..704,707..708,710..711,714..715, 718..719,722,748,752) /site_type="other" /note="GTPase interaction site [polypeptide binding]" /db_xref="CDD:238091" Region <810..904 /region_name="PH-like" /note="Pleckstrin homology-like domain; cl17171" /db_xref="CDD:327399" CDS 1..904 /gene="ECT2L" /gene_synonym="ARHGEF32; C6orf91; dJ509I19.2; dJ509I19.3; dJ509I19.5; FBXO49; LFDH" /coded_by="NM_001077706.3:350..3064" /db_xref="CCDS:CCDS43508.1" /db_xref="GeneID:345930" /db_xref="HGNC:HGNC:21118" ORIGIN 1 mesfhtrfsa wtpfsnksln rqlfqerval ishwfdlwtn kqrqeflfai flrctksqlr 61 fvqdwfserm qvakvdfstv lprfislyif sflspkdlca aaqvswpwkf lteqdclwmp 121 kcvkfgwflp ytptdneyga wkrhyiacvs hldwltprea aatygtlnep ktedeeller 181 qrekclrkri wekialrkke lfkvrppwvs gtccssvlkp rcqprlsqtv rervglheal 241 ekqlvltsle tlpkrsnisg shsypllskk nwhgvhkndd rssyalrphf mlissripay 301 emvmesvkag vvsvvyehsv tlesllylie kaldgqkaqs igifsdgdsr einllqgyki 361 gvknllrpev rdfweklgsy vateeegghv dffvplgase agievlsqls qltgtfftap 421 tgiatgsyqh ilsdwlgsqw gkapssiyfc esklqtwssf tdfleetlkt vrkqlypffk 481 elqksisgrm igqfmfdtmg mtnilnnqdt aqaladglme lskedsernv vednswdtks 541 rlskndlnfe alinlerilq kdsaekrarv vrellqserk yvqileivrd vyvaplkaal 601 ssnrailsaa niqiifcdil qilslnrqfl dnlrdrlqew gpahcvgeiv tkfgsqlnty 661 tnffnnypvi lktiekcrem ipafrtflkr hdktivtkml slpelllyps rrfeeylnll 721 yavrlhtpae hvdrgdltta idqikkykgy idqmkqnitm kdhlsdiqri iwgcptlsev 781 nrylirvqdv aqlhccdeei sfslrlyehi hdlslflfnd allvssrgts htpfertskt 841 tyqfiasval hrllienipd skyvknafil qgpkykwica teieddkflw lsvlrnaiks 901 smek // LOCUS NP_001372353 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372353 VERSION NP_001372353.1 DBSOURCE REFSEQ: accession NM_001385424.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: SRR7410570.51164.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385424.1:1038..3050" /note="isoform 1 is encoded by transcript variant 30" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372352 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372352 VERSION NP_001372352.1 DBSOURCE REFSEQ: accession NM_001385423.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: SRR1803617.69748.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385423.1:1298..3310" /note="isoform 1 is encoded by transcript variant 29" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001269453 425 aa linear PRI 30-AUG-2020 DEFINITION nuclear pore complex-interacting protein family member B6 [Homo sapiens]. ACCESSION NP_001269453 XP_003118766 XP_011544231 VERSION NP_001269453.1 DBSOURCE REFSEQ: accession NM_001282524.2 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 425) 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 REFERENCE 2 (residues 1 to 425) 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 AC138894.2 and AC138904.3. On or before Jul 31, 2020 this sequence version replaced XP_011544231.1, XP_003118766.2. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..425 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p12.1" Protein 1..425 /product="nuclear pore complex-interacting protein family member B6" /note="nuclear pore complex-interacting protein B type" /calculated_mol_wt=49031 Region <1..41 /region_name="AFD_class_I" /note="Adenylate forming domain, Class I superfamily; cl17068" /db_xref="CDD:302604" Region 41..301 /region_name="NPIP" /note="Nuclear pore complex interacting protein (NPIP); pfam06409" /db_xref="CDD:283949" CDS 1..425 /gene="NPIPB6" /gene_synonym="NPIPB" /coded_by="NM_001282524.2:480..1757" /db_xref="CCDS:CCDS61892.1" /db_xref="GeneID:728741" /db_xref="HGNC:HGNC:37454" ORIGIN 1 mvklsivltp qflshdqsql tkelqqhvks vtcpceylrk vinslavyrh retdfgvgvr 61 dhpgqhgktp spqkldnlii iiigflrryt fnilfctscl cvsflktifw srnghdgsmd 121 vqqrawrsnr srqkglrsic mhtkkrvssf rgnkiglkdv itlrrhvetk vrakirkrkv 181 ttkinrhdki ngkrktarkq kmfqraqelr rraedyhkck ippsarkplc nwvrmvaaeh 241 rhssglpywp yltaetlknr mgrqpppptq qhsitdnsls lktptecllt plppsvddni 301 kecplaplpp splppsvddn lkeclfvplp psplppsvdd nlktpplatq eaevekppkp 361 krwrvdeveq spkpkrrrvd eveqspkpkr qreaeaqqlp kpkrrrlskl rtrhctqawa 421 irinp // LOCUS NP_001372363 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372363 VERSION NP_001372363.1 DBSOURCE REFSEQ: accession NM_001385434.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385434.1:1360..3372" /note="isoform 1 is encoded by transcript variant 40" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001245313 376 aa linear PRI 30-AUG-2020 DEFINITION isocitrate dehydrogenase [NAD] subunit beta, mitochondrial isoform d precursor [Homo sapiens]. ACCESSION NP_001245313 VERSION NP_001245313.1 DBSOURCE REFSEQ: accession NM_001258384.3 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 Wu Q, Zhang W, Xue L, Wang Y, Fu M, Ma L, Song Y and Zhan QM. TITLE APC/C-CDH1-Regulated IDH3beta Coordinates with the Cell Cycle to Promote Cell Proliferation JOURNAL Cancer Res. 79 (13), 3281-3293 (2019) PUBMED 31053633 REMARK GeneRIF: High IDH3B expression is associated with esophageal squamous cell carcinoma. REFERENCE 2 (residues 1 to 376) 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 376) 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 376) AUTHORS Dange M and Colman RF. TITLE Each conserved active site tyr in the three subunits of human isocitrate dehydrogenase has a different function JOURNAL J. Biol. Chem. 285 (27), 20520-20525 (2010) PUBMED 20435888 REMARK GeneRIF: Human NAD-dependent isocitrate dehydrogenase (IDH) is a heterotetrameric mitochondrial enzyme with 2alpha:1beta:1gamma subunit ratio subunits shich share 40-52% identity in amino acid sequence. REFERENCE 5 (residues 1 to 376) AUTHORS Schiff D and Purow BW. TITLE Neuro-oncology: Isocitrate dehydrogenase mutations in low-grade gliomas JOURNAL Nat Rev Neurol 5 (6), 303-304 (2009) PUBMED 19498431 REMARK GeneRIF: The point mutations of isocitrate dehydrogenase are essentially unique to gliomas. REFERENCE 6 (residues 1 to 376) 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 376) AUTHORS Weiss C, Zeng Y, Huang J, Sobocka MB and Rushbrook JI. TITLE Bovine NAD+-dependent isocitrate dehydrogenase: alternative splicing and tissue-dependent expression of subunit 1 JOURNAL Biochemistry 39 (7), 1807-1816 (2000) PUBMED 10677231 REFERENCE 8 (residues 1 to 376) AUTHORS Kim YO, Koh HJ, Kim SH, Jo SH, Huh JW, Jeong KS, Lee IJ, Song BJ and Huh TL. TITLE Identification and functional characterization of a novel, tissue-specific NAD(+)-dependent isocitrate dehydrogenase beta subunit isoform JOURNAL J. Biol. Chem. 274 (52), 36866-36875 (1999) PUBMED 10601238 REFERENCE 9 (residues 1 to 376) AUTHORS Kim YO, Park SH, Kang YJ, Koh HJ, Kim SH, Park SY, Sohn U and Huh TL. TITLE Assignment of mitochondrial NAD(+)-specific isocitrate dehydrogenase beta subunit gene (IDH3B) to human chromosome band 20p13 by in situ hybridization and radiation hybrid mapping JOURNAL Cytogenet. Cell Genet. 86 (3-4), 240-241 (1999) PUBMED 10575215 REFERENCE 10 (residues 1 to 376) AUTHORS Fahim,A.T., Daiger,S.P. and Weleber,R.G. TITLE Nonsyndromic Retinitis Pigmentosa Overview JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K 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 HY131986.1, AK309488.1 and AL049712.12. Summary: Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2016]. Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (d) 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 :: SRR1803612.124915.1, SRR5189667.272672.1 [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..376 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20p13" Protein 1..376 /product="isocitrate dehydrogenase [NAD] subunit beta, mitochondrial isoform d precursor" /EC_number="1.1.1.41" /note="isocitrate dehydrogenase 3 (NAD+) beta; NAD(+)-specific ICDH subunit beta; isocitric dehydrogenase subunit beta; isocitrate dehydrogenase [NAD] subunit beta, mitochondrial; isocitrate dehydrogenase 3 (NAD(+)) beta; isocitrate dehydrogenase (NAD(+)) 3 beta" /calculated_mol_wt=37830 transit_peptide 1..34 /note="Mitochondrion. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (O43837.2)" /calculated_mol_wt=3408 Region 47..358 /region_name="Iso_dh" /note="Isocitrate/isopropylmalate dehydrogenase; cl00445" /db_xref="CDD:294303" Site 199 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000244|PubMed:19608861; propagated from UniProtKB/Swiss-Prot (O43837.2)" CDS 1..376 /gene="IDH3B" /gene_synonym="RP46" /coded_by="NM_001258384.3:29..1159" /note="isoform d precursor is encoded by transcript variant 4" /db_xref="CCDS:CCDS74696.1" /db_xref="GeneID:3420" /db_xref="HGNC:HGNC:5385" /db_xref="MIM:604526" ORIGIN 1 maalsgvrwl tralvsagnp gawrglstsa aahaasrsqa edvrvegsfp vtmlpgdgvg 61 pelmhavkev fkaaavpvef qehhlsevqn maseekleqv lssmkenkva iigkihtpme 121 ykgelasydm rlrrkldlfa nvvhvkslpg ymtrhnnldl viireqtege ysslehesar 181 gvieclkivt raksqriakf afdyatkkgr gkvtavhkan imklgdglfl qcceevaely 241 pkikfetmii dnccmqlvqn pyqfdvlvmp nlygniidnl aaglvggagv vpgesysaey 301 avfetgarhp faqavgrnia nptamllsas nmlrhlnley hssmiadavk kvikvgkips 361 avpsfllhpl pfswai // LOCUS NP_001372346 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372346 VERSION NP_001372346.1 DBSOURCE REFSEQ: accession NM_001385417.1 KEYWORDS RefSeq. SOURCE Homo 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 :: SRR7410570.26747.1, SRR1803611.231635.1 [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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385417.1:594..2606" /note="isoform 1 is encoded by transcript variant 23" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001352301 726 aa linear PRI 30-AUG-2020 DEFINITION golgin A6 family-like [Homo sapiens]. ACCESSION NP_001352301 VERSION NP_001352301.1 DBSOURCE REFSEQ: accession NM_001365372.1 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 PROVISIONAL REFSEQ: This record has not yet been subject to final NCBI review. The reference sequence was derived from AC091304.15. 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. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..726 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q13.1" Protein 1..726 /product="golgin A6 family-like" /calculated_mol_wt=90403 Region <1..>38 /region_name="Amelogenin" /note="cl25716" /db_xref="CDD:330537" Region <173..668 /region_name="Neuromodulin_N" /note="Gap junction protein N-terminal region; cl26511" /db_xref="CDD:331332" CDS 1..726 /gene="LOC645202" /coded_by="NM_001365372.1:52..2232" /db_xref="GeneID:645202" ORIGIN 1 mlmwpqphlp thphlpthph lpthphlpth phlpthpmms ketrqsklae akeqltdhhp 61 qtnpsvgtaa sdtkkkkinn gtnpetttsg gchspedeqk ashqhqealr releaqvqti 121 riltcqktel qmalyysqha vkqlegeard lisrlhdswk fageleqals avatqkkkad 181 ryieeltker dalslelyrn titdeelkek naklqeklql vesekseiql nvkelkrkle 241 raklllpqqq lqaeadhlgk elqsvsaklq aqveenelwn rlnqqqeekm wrqeekiqer 301 eekiqeqeek ireqeekmrr qeemmwekee kmrrqeemmw ekeekirele ekmheqekir 361 eqeekrqeee kireqekrqe qeakmwrqee kireqeekir eqekkmwrqe ekiheqekir 421 eeekrqeqee mwrqeekire qeeiwrqkek mheqeekirk qeekvwrqee kmhdqeekir 481 eqeekireqe ekireqeemm qeqeekmgeq eekmqeqekm rrqeekireq eekireqkek 541 ireqeekiwe qeekireqee mmqeqeekmg eqeekmweqe eemqeqeekm rrqeekireq 601 ekkireqeek ireqeemmqe qeekmgeqeg kmceqeakmq eqeekmrrqe ekireqekki 661 reqeekireq eemmqeqeek mweqeekmce qeekmqeqee kmrrqeekmr eqevrlrqqe 721 ekmqeh // LOCUS NP_001287792 152 aa linear PRI 30-AUG-2020 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:292462" 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_683701 409 aa linear PRI 30-AUG-2020 DEFINITION protein GREB1 isoform c [Homo sapiens]. ACCESSION NP_683701 XP_005246256 VERSION NP_683701.2 DBSOURCE REFSEQ: accession NM_148903.3 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 409) AUTHORS Stossi F, Dandekar RD, Mancini MG, Gu G, Fuqua SAW, Nardone A, De Angelis C, Fu X, Schiff R, Bedford MT, Xu W, Johansson HE, Stephan CC and Mancini MA. TITLE Estrogen-induced transcription at individual alleles is independent of receptor level and active conformation but can be modulated by coactivators activity JOURNAL Nucleic Acids Res. 48 (4), 1800-1810 (2020) PUBMED 31930333 REMARK GeneRIF: we focused on estrogen stimulation of the well-characterized GREB1 and MYC target genes that revealed large differences in cell-by-cell responses, and, more interestingly, between alleles within the same cell, both over time and hormone concentration. REFERENCE 2 (residues 1 to 409) AUTHORS Tong Z, Liu Y, Yu X, Martinez JD and Xu J. TITLE The transcriptional co-activator NCOA6 promotes estrogen-induced GREB1 transcription by recruiting ERalpha and enhancing enhancer-promoter interactions JOURNAL J. Biol. Chem. 294 (51), 19667-19682 (2019) PUBMED 31744881 REMARK GeneRIF: NCOA6 associates with the GREB1 promoter and enhancer in an E2-independent manner and that NCOA6 knockout reduces chromatin looping, enhancer-promoter interactions, and basal GREB1 expression in the absence of estradiol. REFERENCE 3 (residues 1 to 409) AUTHORS Matalliotaki C, Matalliotakis M, Rahmioglu N, Mavromatidis G, Matalliotakis I, Koumantakis G, Zondervan K, Spandidos DA, Goulielmos GN and Zervou MI. TITLE Role of FN1 and GREB1 gene polymorphisms in endometriosis JOURNAL Mol Med Rep 20 (1), 111-116 (2019) PUBMED 31115525 REMARK GeneRIF: Our results demonstrated a genetic association between the rs1250248 (FN1) SNP and endometriosis at both the genotypic and allelic level. However, although rs11674184 of GREB1 constitutes one of the most consistently associated SNPs with endometriosis in European ancestry populations, it was not found to be associated with endometriosis in this study REFERENCE 4 (residues 1 to 409) AUTHORS Lee CH, Kao YC, Lee WR, Hsiao YW, Lu TP, Chu CY, Lin YJ, Huang HY, Hsieh TH, Liu YR, Liang CW, Chen TW, Yip S, Lum A, Kuo KT, Jeng YM, Yu SC, Chung YC and Lee JC. TITLE Clinicopathologic Characterization of GREB1-rearranged Uterine Sarcomas With Variable Sex-Cord Differentiation JOURNAL Am. J. Surg. Pathol. 43 (7), 928-942 (2019) PUBMED 31094921 REMARK GeneRIF: GREB1-rearranged uterine sarcomas involved significantly older women, tended to be larger and more mitotically active, showed more variable and often inconspicuous sex-cord differentiation, and appeared to behave more aggressively. REFERENCE 5 (residues 1 to 409) AUTHORS Lee E, Wongvipat J, Choi D, Wang P, Lee YS, Zheng D, Watson PA, Gopalan A and Sawyers CL. TITLE GREB1 amplifies androgen receptor output in human prostate cancer and contributes to antiandrogen resistance JOURNAL Elife 8, e41913 (2019) PUBMED 30644358 REMARK GeneRIF: GREB1 knockdown in high AR output cells restores enzalutamide sensitivity in vivo. Publication Status: Online-Only REFERENCE 6 (residues 1 to 409) AUTHORS Deschenes J, Bourdeau V, White JH and Mader S. TITLE Regulation of GREB1 transcription by estrogen receptor alpha through a multipartite enhancer spread over 20 kb of upstream flanking sequences JOURNAL J. Biol. Chem. 282 (24), 17335-17339 (2007) PUBMED 17463000 REMARK GeneRIF: Data show that the induction of the gene regulated in breast cancer 1 (GREB1) is mediated by binding of estrogen receptor alpha to three consensus estrogen response elements spread over approximately 20 kb of upstream flanking sequences. REFERENCE 7 (residues 1 to 409) AUTHORS Rae JM, Johnson MD, Cordero KE, Scheys JO, Larios JM, Gottardis MM, Pienta KJ and Lippman ME. TITLE GREB1 is a novel androgen-regulated gene required for prostate cancer growth JOURNAL Prostate 66 (8), 886-894 (2006) PUBMED 16496412 REMARK GeneRIF: GREB1 is expressed in proliferating prostatic tissue and prostate cancer, is regulated by androgens, and suppression of GREB1 blocks androgen-induced growth suggesting GREB1 may be critically involved in prostate cancer proliferation. REFERENCE 8 (residues 1 to 409) AUTHORS Rae JM, Johnson MD, Scheys JO, Cordero KE, Larios JM and Lippman ME. TITLE GREB 1 is a critical regulator of hormone dependent breast cancer growth JOURNAL Breast Cancer Res. Treat. 92 (2), 141-149 (2005) PUBMED 15986123 REMARK GeneRIF: GREB1 is critically involved in the estrogen induced growth of breast cancer cells. REFERENCE 9 (residues 1 to 409) AUTHORS Bourdeau V, Deschenes J, Metivier R, Nagai Y, Nguyen D, Bretschneider N, Gannon F, White JH and Mader S. TITLE Genome-wide identification of high-affinity estrogen response elements in human and mouse JOURNAL Mol. Endocrinol. 18 (6), 1411-1427 (2004) PUBMED 15001666 REMARK GeneRIF: Estrogen receptors are recruited at several proximal and distal estrogen response elements upstream of the GREB1 transcription unit. REFERENCE 10 (residues 1 to 409) AUTHORS Ghosh MG, Thompson DA and Weigel RJ. TITLE PDZK1 and GREB1 are estrogen-regulated genes expressed in hormone-responsive breast cancer JOURNAL Cancer Res. 60 (22), 6367-6375 (2000) PUBMED 11103799 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC011994.10. On or before Aug 31, 2013 this sequence version replaced XP_005246256.1, NP_683701.1. Summary: This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (c) contains alternate 5' and 3' UTRs, and 3' coding region, compared to variant a. This results in a shorter isoform (c) 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 :: AF245390.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2145245 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..409 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2p25.1" Protein 1..409 /product="protein GREB1 isoform c" /note="growth regulation by estrogen in breast cancer 1; gene regulated in breast cancer 1 protein; protein GREB1; gene regulated by estrogen in breast cancer" /calculated_mol_wt=43122 Region 1..>386 /region_name="GREB1" /note="Gene regulated by oestrogen in breast cancer; pfam15782" /db_xref="CDD:292410" CDS 1..409 /gene="GREB1" /coded_by="NM_148903.3:452..1681" /note="isoform c is encoded by transcript variant c" /db_xref="CCDS:CCDS33147.1" /db_xref="GeneID:9687" /db_xref="HGNC:HGNC:24885" /db_xref="MIM:611736" ORIGIN 1 mgnsyagqlk ttrfeevlhn sieaslrsnn lvprpifsql yleaeqqlaa leggsrvdne 61 eeeeegeggl etngppnpfq lhplpegcct tdgfcqagkd lrlvsisnep mdvpagfllv 121 gvkspslpdh llvcavdkrf lpddnghnal lgfsgncvgc gkkgfcyfte fsnhinlklt 181 tqpkkqkhlk yylvrnaqgt ltkgplicwk gsefrsrqip astcssslfp alestaafps 241 epvpgtnpsi lmgaqqagpa sdhpslnaam gpavfngkds pkcqqlaknn llalprpsal 301 gilsnsgppk krhkgwspes psapdggcpq gggnrakyes agmscvpqvg lvgpasvtfp 361 vvasgepvsv pdnllkicka kpvifkvfvn gatqmvalgp aepasprsl // LOCUS NP_001287793 130 aa linear PRI 30-AUG-2020 DEFINITION testis-expressed protein 38 isoform 3 [Homo sapiens]. ACCESSION NP_001287793 XP_005270902 VERSION NP_001287793.1 DBSOURCE REFSEQ: accession NM_001300864.2 KEYWORDS RefSeq. SOURCE Homo 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 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, BC144027.1 and AI828862.1. On Jul 15, 2014 this sequence version replaced XP_005270902.1. Transcript Variant: This variant (3) 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 :: SRR5189667.365523.1, SRR5189652.215528.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..130 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p33" Protein 1..130 /product="testis-expressed protein 38 isoform 3" /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=14026 Region <1..129 /region_name="THEG4" /note="Testis highly expressed protein 4; pfam15834" /db_xref="CDD:292462" CDS 1..130 /gene="TEX38" /gene_synonym="ATPAF1-AS1; C1orf223; THEG4" /coded_by="NM_001300864.2:159..551" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS72781.1" /db_xref="GeneID:374973" /db_xref="HGNC:HGNC:29589" ORIGIN 1 mnaaintgpa pavtktetev qnpdvlwdld ipegrshadq dsnpkaeapa plqpalqlap 61 qqpqarspfp lpifqevpfa pplcnlppll nhsvsyplat cpernvlfhs llnlaqedhs 121 fnakpfpsel // LOCUS NP_149081 457 aa linear PRI 30-AUG-2020 DEFINITION protein GREB1 isoform b [Homo sapiens]. ACCESSION NP_149081 VERSION NP_149081.1 DBSOURCE REFSEQ: accession NM_033090.3 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 457) AUTHORS Stossi F, Dandekar RD, Mancini MG, Gu G, Fuqua SAW, Nardone A, De Angelis C, Fu X, Schiff R, Bedford MT, Xu W, Johansson HE, Stephan CC and Mancini MA. TITLE Estrogen-induced transcription at individual alleles is independent of receptor level and active conformation but can be modulated by coactivators activity JOURNAL Nucleic Acids Res. 48 (4), 1800-1810 (2020) PUBMED 31930333 REMARK GeneRIF: we focused on estrogen stimulation of the well-characterized GREB1 and MYC target genes that revealed large differences in cell-by-cell responses, and, more interestingly, between alleles within the same cell, both over time and hormone concentration. REFERENCE 2 (residues 1 to 457) AUTHORS Tong Z, Liu Y, Yu X, Martinez JD and Xu J. TITLE The transcriptional co-activator NCOA6 promotes estrogen-induced GREB1 transcription by recruiting ERalpha and enhancing enhancer-promoter interactions JOURNAL J. Biol. Chem. 294 (51), 19667-19682 (2019) PUBMED 31744881 REMARK GeneRIF: NCOA6 associates with the GREB1 promoter and enhancer in an E2-independent manner and that NCOA6 knockout reduces chromatin looping, enhancer-promoter interactions, and basal GREB1 expression in the absence of estradiol. REFERENCE 3 (residues 1 to 457) AUTHORS Matalliotaki C, Matalliotakis M, Rahmioglu N, Mavromatidis G, Matalliotakis I, Koumantakis G, Zondervan K, Spandidos DA, Goulielmos GN and Zervou MI. TITLE Role of FN1 and GREB1 gene polymorphisms in endometriosis JOURNAL Mol Med Rep 20 (1), 111-116 (2019) PUBMED 31115525 REMARK GeneRIF: Our results demonstrated a genetic association between the rs1250248 (FN1) SNP and endometriosis at both the genotypic and allelic level. However, although rs11674184 of GREB1 constitutes one of the most consistently associated SNPs with endometriosis in European ancestry populations, it was not found to be associated with endometriosis in this study REFERENCE 4 (residues 1 to 457) AUTHORS Lee CH, Kao YC, Lee WR, Hsiao YW, Lu TP, Chu CY, Lin YJ, Huang HY, Hsieh TH, Liu YR, Liang CW, Chen TW, Yip S, Lum A, Kuo KT, Jeng YM, Yu SC, Chung YC and Lee JC. TITLE Clinicopathologic Characterization of GREB1-rearranged Uterine Sarcomas With Variable Sex-Cord Differentiation JOURNAL Am. J. Surg. Pathol. 43 (7), 928-942 (2019) PUBMED 31094921 REMARK GeneRIF: GREB1-rearranged uterine sarcomas involved significantly older women, tended to be larger and more mitotically active, showed more variable and often inconspicuous sex-cord differentiation, and appeared to behave more aggressively. REFERENCE 5 (residues 1 to 457) AUTHORS Lee E, Wongvipat J, Choi D, Wang P, Lee YS, Zheng D, Watson PA, Gopalan A and Sawyers CL. TITLE GREB1 amplifies androgen receptor output in human prostate cancer and contributes to antiandrogen resistance JOURNAL Elife 8, e41913 (2019) PUBMED 30644358 REMARK GeneRIF: GREB1 knockdown in high AR output cells restores enzalutamide sensitivity in vivo. Publication Status: Online-Only REFERENCE 6 (residues 1 to 457) AUTHORS Deschenes J, Bourdeau V, White JH and Mader S. TITLE Regulation of GREB1 transcription by estrogen receptor alpha through a multipartite enhancer spread over 20 kb of upstream flanking sequences JOURNAL J. Biol. Chem. 282 (24), 17335-17339 (2007) PUBMED 17463000 REMARK GeneRIF: Data show that the induction of the gene regulated in breast cancer 1 (GREB1) is mediated by binding of estrogen receptor alpha to three consensus estrogen response elements spread over approximately 20 kb of upstream flanking sequences. REFERENCE 7 (residues 1 to 457) AUTHORS Rae JM, Johnson MD, Cordero KE, Scheys JO, Larios JM, Gottardis MM, Pienta KJ and Lippman ME. TITLE GREB1 is a novel androgen-regulated gene required for prostate cancer growth JOURNAL Prostate 66 (8), 886-894 (2006) PUBMED 16496412 REMARK GeneRIF: GREB1 is expressed in proliferating prostatic tissue and prostate cancer, is regulated by androgens, and suppression of GREB1 blocks androgen-induced growth suggesting GREB1 may be critically involved in prostate cancer proliferation. REFERENCE 8 (residues 1 to 457) AUTHORS Rae JM, Johnson MD, Scheys JO, Cordero KE, Larios JM and Lippman ME. TITLE GREB 1 is a critical regulator of hormone dependent breast cancer growth JOURNAL Breast Cancer Res. Treat. 92 (2), 141-149 (2005) PUBMED 15986123 REMARK GeneRIF: GREB1 is critically involved in the estrogen induced growth of breast cancer cells. REFERENCE 9 (residues 1 to 457) AUTHORS Bourdeau V, Deschenes J, Metivier R, Nagai Y, Nguyen D, Bretschneider N, Gannon F, White JH and Mader S. TITLE Genome-wide identification of high-affinity estrogen response elements in human and mouse JOURNAL Mol. Endocrinol. 18 (6), 1411-1427 (2004) PUBMED 15001666 REMARK GeneRIF: Estrogen receptors are recruited at several proximal and distal estrogen response elements upstream of the GREB1 transcription unit. REFERENCE 10 (residues 1 to 457) AUTHORS Ghosh MG, Thompson DA and Weigel RJ. TITLE PDZK1 and GREB1 are estrogen-regulated genes expressed in hormone-responsive breast cancer JOURNAL Cancer Res. 60 (22), 6367-6375 (2000) PUBMED 11103799 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC011994.10. Summary: This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (b) contains alternate 5' and 3' UTRs, and 3' coding region, compared to variant a. This results in a shorter 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 :: AF245389.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2156099 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..457 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2p25.1" Protein 1..457 /product="protein GREB1 isoform b" /note="growth regulation by estrogen in breast cancer 1; gene regulated in breast cancer 1 protein; protein GREB1; gene regulated by estrogen in breast cancer" /calculated_mol_wt=48804 Region 1..>449 /region_name="GREB1" /note="Gene regulated by oestrogen in breast cancer; pfam15782" /db_xref="CDD:292410" CDS 1..457 /gene="GREB1" /coded_by="NM_033090.3:291..1664" /note="isoform b is encoded by transcript variant b" /db_xref="CCDS:CCDS33146.1" /db_xref="GeneID:9687" /db_xref="HGNC:HGNC:24885" /db_xref="MIM:611736" ORIGIN 1 mgnsyagqlk ttrfeevlhn sieaslrsnn lvprpifsql yleaeqqlaa leggsrvdne 61 eeeeegeggl etngppnpfq lhplpegcct tdgfcqagkd lrlvsisnep mdvpagfllv 121 gvkspslpdh llvcavdkrf lpddnghnal lgfsgncvgc gkkgfcyfte fsnhinlklt 181 tqpkkqkhlk yylvrnaqgt ltkgplicwk gsefrsrqip astcssslfp alestaafps 241 epvpgtnpsi lmgaqqagpa sdhpslnaam gpavfngkds pkcqqlaknn llalprpsal 301 gilsnsgppk krhkgwspes psapdggcpq gggnrakyes agmscvpqvg lvgpasvtfp 361 vvasgepvsv pdnllkicka kpvifkghgn fpylcgnlnd vvvspllytc yqnsqsvsra 421 yeqygasaiq piseemqlll tvyylvqlah qirnpdv // LOCUS NP_001258593 670 aa linear PRI 30-AUG-2020 DEFINITION golgin subfamily A member 6-like protein 22 [Homo sapiens]. ACCESSION NP_001258593 XP_003846626 XP_006725239 XP_496041 VERSION NP_001258593.2 DBSOURCE REFSEQ: accession NM_001271664.2 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 670) 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC136687.6. On or before Apr 11, 2014 this sequence version replaced XP_006725239.1, NP_001258593.1. 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/partial sample support SAMEA1968968, SAMEA2148093 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..670 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q11.2" Protein 1..670 /product="golgin subfamily A member 6-like protein 22" /calculated_mol_wt=83495 Region <6..>38 /region_name="Amelogenin" /note="Amelogenin; pfam02948" /db_xref="CDD:281015" Region <41..286 /region_name="Macoilin" /note="Transmembrane protein; pfam09726" /db_xref="CDD:286769" Region <173..660 /region_name="PTZ00121" /note="MAEBL; Provisional" /db_xref="CDD:173412" CDS 1..670 /gene="GOLGA6L22" /coded_by="NM_001271664.2:70..2082" /db_xref="GeneID:440243" /db_xref="HGNC:HGNC:50289" 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 wekeekmrrl eemmwekeek ireleekmhe qekireqeek rqeeekireq ekrqeqeakm 421 wrqeekireq eekireqekk mwrqeekihe qekireeekr qeqeemwrqe ekireqeeiw 481 rqkekmheqe kirkqeekvw rqeekmhdqe ekireqeekm wrqeekireq eekireqeek 541 ireqeemmqe qeekmgeqee kmqeqekmrr qeekireqee kireqkekir eqeekiweqe 601 ekireqeemm qeqeekmweq eekmceqeek mqeqeekmrr qeekmweqev rlrqqeekmq 661 ehqehleaai // LOCUS NP_001269422 630 aa linear PRI 30-AUG-2020 DEFINITION golgin subfamily A member 8K [Homo sapiens]. ACCESSION NP_001269422 XP_003959991 VERSION NP_001269422.1 DBSOURCE REFSEQ: accession NM_001282493.1 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 630) 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 AC139426.2. On Sep 12, 2013 this sequence version replaced XP_003959991.2. 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. 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 :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology 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="15" /map="15q13.3" Protein 1..630 /product="golgin subfamily A member 8K" /calculated_mol_wt=71426 Region <175..291 /region_name="DUF342" /note="Protein of unknown function (DUF342); cl19219" /db_xref="CDD:302792" Region 226..620 /region_name="GOLGA2L5" /note="Putative golgin subfamily A member 2-like protein 5; pfam15070" /db_xref="CDD:291729" CDS 1..630 /gene="GOLGA8K" /coded_by="NM_001282493.1:99..1991" /db_xref="CCDS:CCDS61577.1" /db_xref="GeneID:653125" /db_xref="HGNC:HGNC:38652" 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 kvqltqlkes fqqvqlerde 241 ysehlkgera rwqqrmrkms qeictlkkek qqdmrrvekl erslsklknq maeplppepp 301 avpsevelqh lrkelervag elqaqvkknq risllnqrqe eriqeqeerl rkqeeriqeq 361 hkslqqlakp qsvfeepnne nknalqleqq vkelqeklge ehleaasqqn qqltaqlslm 421 alpgeghgeh ldsegeeapq pmpsvpedle sreamssfmd hlkekadlse lvkkelcfih 481 hwrdrrhqkt hhllsepggc akdaalgggh hqagaqggde geaagaaadg iaaysnynng 541 hrkflaaahn padepgpgap apqelgaadk hgdlrevslt ssaqgeared plldkptaqp 601 ivqdhkehpg lgsnccvplf cwawlprrrr // LOCUS NP_064445 364 aa linear PRI 30-AUG-2020 DEFINITION long-wave-sensitive opsin 1 [Homo sapiens]. ACCESSION NP_064445 VERSION NP_064445.2 DBSOURCE REFSEQ: accession NM_020061.6 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 364) AUTHORS Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG, Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF, Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth 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 364) AUTHORS Salom D, Jin H, Gerken TA, Yu C, Huang L and Palczewski K. TITLE Human red and green cone opsins are O-glycosylated at an N-terminal Ser/Thr-rich domain conserved in vertebrates JOURNAL J. Biol. Chem. 294 (20), 8123-8133 (2019) PUBMED 30948514 REMARK GeneRIF: These results suggest that O-glycosylation is a fundamental feature of red and green cone opsins, which may be relevant to their function or to cone cell development, and that differences in this post-translational modification also could contribute to the different morphologies of rod and cone photoreceptors. REFERENCE 3 (residues 1 to 364) AUTHORS Mountford JK, Davies WIL, Griffiths LR, Yazar S, Mackey DA and Hunt DM. TITLE Differential stability of variant OPN1LW gene transcripts in myopic patients JOURNAL Mol. Vis. 25, 183-193 (2019) PUBMED 30996587 REMARK GeneRIF: Differential stability of variant OPN1LW gene transcripts in myopic Australian islander patients has been reported. Publication Status: Online-Only REFERENCE 4 (residues 1 to 364) AUTHORS Buena-Atienza E, Nasser F, Kohl S and Wissinger B. TITLE A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report JOURNAL BMC Med. Genet. 19 (1), 107 (2018) PUBMED 29940872 REMARK GeneRIF: Molecular genetic analysis of the OPN1LW/OPN1MW gene cluster revealed a novel deletion of about 73 kb in the patient encompassing the LCR. Publication Status: Online-Only REFERENCE 5 (residues 1 to 364) AUTHORS Deng WT, Li J, Zhu P, Chiodo VA, Smith WC, Freedman B, Baehr W, Pang J and Hauswirth WW. TITLE Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy JOURNAL Mol. Vis. 24, 17-28 (2018) PUBMED 29386880 REMARK GeneRIF: OPN1LW and OPN1MW restore M-cone function in a mouse model of human blue cone monochromacy. Publication Status: Online-Only REFERENCE 6 (residues 1 to 364) AUTHORS Ueyama H, Kuwayama S, Imai H, Tanabe S, Oda S, Nishida Y, Wada A, Shichida Y and Yamade S. TITLE Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies JOURNAL Biochem. Biophys. Res. Commun. 294 (2), 205-209 (2002) PUBMED 12051694 REMARK GeneRIF: In a Japanese male with congenital protan red/green color blindness the mutation Gly338Glu (GGG-->GAG) occurred in the single red gene resulting in no absorbance and loss of function REFERENCE 7 (residues 1 to 364) AUTHORS Winderickx J, Lindsey DT, Sanocki E, Teller DY, Motulsky AG and Deeb SS. TITLE Polymorphism in red photopigment underlies variation in colour matching JOURNAL Nature 356 (6368), 431-433 (1992) PUBMED 1557123 REFERENCE 8 (residues 1 to 364) AUTHORS Dietrich A, Korn B and Poustka A. TITLE Completion of the physical map of Xq28: the location of the gene for L1CAM on the human X chromosome JOURNAL Mamm. Genome 3 (3), 168-172 (1992) PUBMED 1617223 REFERENCE 9 (residues 1 to 364) AUTHORS Arveiler B, Vincent A and Mandel JL. TITLE Toward a physical map of the Xq28 region in man: linking color vision, G6PD, and coagulation factor VIII genes to an X-Y homology region JOURNAL Genomics 4 (4), 460-471 (1989) PUBMED 2501212 REFERENCE 10 (residues 1 to 364) AUTHORS Nathans,J., Thomas,D. and Hogness,D.S. TITLE Molecular genetics of human color vision: the genes encoding blue, green, and red pigments JOURNAL Science 232 (4747), 193-202 (1986) PUBMED 2937147 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DN693335.1, BQ639996.1, EL949562.1, BM688032.1 and BU726889.1. This sequence is a reference standard in the RefSeqGene project. On Sep 6, 2013 this sequence version replaced NP_064445.1. Summary: This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [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 :: CR749814.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000369951.9/ ENSP00000358967.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..364 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq28" Protein 1..364 /product="long-wave-sensitive opsin 1" /note="red cone photoreceptor pigment; red-sensitive opsin; cone dystrophy 5 (X-linked); red cone opsin; opsin 1 (cone pigments), long-wave-sensitive" /calculated_mol_wt=40443 Site 22 /site_type="glycosylation" /note="O-linked (GlcNAc) serine. /evidence=ECO:0000250|UniProtKB:Q9BGI7; propagated from UniProtKB/Swiss-Prot (P04000.1)" Site 34 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255|PROSITE-ProRule:PRU00498; propagated from UniProtKB/Swiss-Prot (P04000.1)" Site 53..77 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P04000.1)" Region 68..>264 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 71..322 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 90..115 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P04000.1)" Site 130..149 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P04000.1)" Site 169..192 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P04000.1)" Site 219..246 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P04000.1)" Site 269..292 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P04000.1)" Site 301..325 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P04000.1)" CDS 1..364 /gene="OPN1LW" /gene_synonym="CBBM; CBP; COD5; RCP; ROP" /coded_by="NM_020061.6:42..1136" /db_xref="CCDS:CCDS14742.1" /db_xref="GeneID:5956" /db_xref="HGNC:HGNC:9936" /db_xref="MIM:300822" ORIGIN 1 maqqwslqrl agrhpqdsye dstqssifty tnsnstrgpf egpnyhiapr wvyhltsvwm 61 ifvvtasvft nglvlaatmk fkklrhplnw ilvnlavadl aetviastis ivnqvsgyfv 121 lghpmcvleg ytvslcgitg lwslaiiswe rwmvvckpfg nvrfdaklai vgiafswiwa 181 avwtappifg wsrywphglk tscgpdvfsg ssypgvqsym ivlmvtccii plaiimlcyl 241 qvwlairava kqqkesestq kaekevtrmv vvmifaycvc wgpytffacf aaanpgyafh 301 plmaalpayf aksatiynpv iyvfmnrqfr ncilqlfgkk vddgselssa sktevssvss 361 vspa // LOCUS NP_001138946 206 aa linear PRI 30-AUG-2020 DEFINITION testis-expressed protein 38 isoform 1 [Homo sapiens]. ACCESSION NP_001138946 XP_001717674 XP_371248 XP_946609 VERSION NP_001138946.1 DBSOURCE REFSEQ: accession NM_001145474.4 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 206) 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, BC126318.1 and AI828862.1. On or before Mar 2, 2009 this sequence version replaced XP_946609.1, XP_371248.2, XP_001717674.1. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). ##Evidence-Data-START## Transcript exon combination :: SRR5189667.65471.1, SRR5189667.401752.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000334122.5/ ENSP00000455854.1 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..206 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p33" Protein 1..206 /product="testis-expressed protein 38 isoform 1" /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=23149 Region 13..205 /region_name="THEG4" /note="Testis highly expressed protein 4; pfam15834" /db_xref="CDD:292462" Site 15..35 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q6PEX7.3)" CDS 1..206 /gene="TEX38" /gene_synonym="ATPAF1-AS1; C1orf223; THEG4" /coded_by="NM_001145474.4:82..702" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS57999.1" /db_xref="GeneID:374973" /db_xref="HGNC:HGNC:29589" ORIGIN 1 mdsqqedlrf pgmwvslyfg ilglcsvitg gciiflhwrk nlrreehaqq wvevmraatf 61 tyspllywin krrrygmnaa intgpapavt ktetevqnpd vlwdldipeg rshadqdsnp 121 kaeapaplqp alqlapqqpq arspfplpif qevpfapplc nlppllnhsv syplatcper 181 nvlfhsllnl aqedhsfnak pfpsel // LOCUS NP_000504 364 aa linear PRI 30-AUG-2020 DEFINITION medium-wave-sensitive opsin 1 [Homo sapiens]. ACCESSION NP_000504 XP_351937 VERSION NP_000504.1 DBSOURCE REFSEQ: accession NM_000513.2 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 364) AUTHORS Salom D, Jin H, Gerken TA, Yu C, Huang L and Palczewski K. TITLE Human red and green cone opsins are O-glycosylated at an N-terminal Ser/Thr-rich domain conserved in vertebrates JOURNAL J. Biol. Chem. 294 (20), 8123-8133 (2019) PUBMED 30948514 REMARK GeneRIF: These results suggest that O-glycosylation is a fundamental feature of red and green cone opsins, which may be relevant to their function or to cone cell development, and that differences in this post-translational modification also could contribute to the different morphologies of rod and cone photoreceptors. REFERENCE 2 (residues 1 to 364) AUTHORS Buena-Atienza E, Nasser F, Kohl S and Wissinger B. TITLE A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report JOURNAL BMC Med. Genet. 19 (1), 107 (2018) PUBMED 29940872 REMARK GeneRIF: Molecular genetic analysis of the OPN1LW/OPN1MW gene cluster revealed a novel deletion of about 73 kb in the patient encompassing the LCR. Publication Status: Online-Only REFERENCE 3 (residues 1 to 364) AUTHORS Owen TS, Salom D, Sun W and Palczewski K. TITLE Increasing the Stability of Recombinant Human Green Cone Pigment JOURNAL Biochemistry 57 (6), 1022-1030 (2018) PUBMED 29320632 REMARK GeneRIF: By inserting five different thermostabilizing proteins (BRIL, T4L, PGS, RUB, and FLAV) into the recombinant green opsin sequence, constructs were created that were up to 9-fold more stable than WT. REFERENCE 4 (residues 1 to 364) AUTHORS Deng WT, Li J, Zhu P, Chiodo VA, Smith WC, Freedman B, Baehr W, Pang J and Hauswirth WW. TITLE Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy JOURNAL Mol. Vis. 24, 17-28 (2018) PUBMED 29386880 REMARK GeneRIF: OPN1LW and OPN1MW restore M-cone function in a mouse model of human blue cone monochromacy. Publication Status: Online-Only REFERENCE 5 (residues 1 to 364) AUTHORS Srinivasan S, Fernandez-Sampedro MA, Ramon E and Garriga P. TITLE Structural and functional alterations associated with deutan N94K and R330Q mutations of green cone opsin JOURNAL Biochim Biophys Acta Mol Basis Dis 1863 (7), 1840-1847 (2017) PUBMED 28487225 REMARK GeneRIF: conformational characterization of the two deutan green cone opsin mutants N94K and R330Q; provide novel insights into the mechanism of green cone opsin alterations; results, on the disruptive effect of single point mutants, provide further evidence of the sophisticated network of structural interactions that underlay -and differentiate- rhodopsin and cone opsins functions REFERENCE 6 (residues 1 to 364) AUTHORS Li ZY, Kljavin IJ and Milam AH. TITLE Rod photoreceptor neurite sprouting in retinitis pigmentosa JOURNAL J. Neurosci. 15 (8), 5429-5438 (1995) PUBMED 7643192 REFERENCE 7 (residues 1 to 364) AUTHORS Winderickx J, Sanocki E, Lindsey DT, Teller DY, Motulsky AG and Deeb SS. TITLE Defective colour vision associated with a missense mutation in the human green visual pigment gene JOURNAL Nat. Genet. 1 (4), 251-256 (1992) PUBMED 1302020 REFERENCE 8 (residues 1 to 364) AUTHORS Neitz J, Neitz M and Jacobs GH. TITLE Analysis of fusion gene and encoded photopigment of colour-blind humans JOURNAL Nature 342 (6250), 679-682 (1989) PUBMED 2574415 REFERENCE 9 (residues 1 to 364) AUTHORS Nathans,J., Thomas,D. and Hogness,D.S. TITLE Molecular genetics of human color vision: the genes encoding blue, green, and red pigments JOURNAL Science 232 (4747), 193-202 (1986) PUBMED 2937147 REFERENCE 10 (residues 1 to 364) AUTHORS Applebury,M.L. and Hargrave,P.A. TITLE Molecular biology of the visual pigments JOURNAL Vision Res. 26 (12), 1881-1895 (1986) PUBMED 3303660 REMARK Review article COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC244097.3. This sequence is a reference standard in the RefSeqGene project. On Dec 17, 2003 this sequence version replaced XP_351937.1. Summary: This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 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 :: BC140938.1, BC143790.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000595290.6/ ENSP00000472316.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..364 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq28" Protein 1..364 /product="medium-wave-sensitive opsin 1" /note="green cone pigment; photopigment apoprotein; green cone photoreceptor pigment; green-sensitive opsin; cone dystrophy 5 (X-linked); opsin 1 (cone pigments), medium-wave-sensitive" /calculated_mol_wt=40453 Region 17..43 /region_name="Required for 11-cis-retinal regeneration. /evidence=ECO:0000269|PubMed:30948514" /note="propagated from UniProtKB/Swiss-Prot (P04001.1)" Site 34 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:28402104; propagated from UniProtKB/Swiss-Prot (P04001.1)" Site 53..77 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P04001.1)" Region 61..>178 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 71..322 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 90..115 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P04001.1)" Site 130..149 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P04001.1)" Site 169..192 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P04001.1)" Site 219..246 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P04001.1)" Site 269..292 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P04001.1)" Site 301..325 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (P04001.1)" CDS 1..364 /gene="OPN1MW" /gene_synonym="CBBM; CBD; COD5; GCP; GOP; OPN1MW1" /coded_by="NM_000513.2:83..1177" /db_xref="CCDS:CCDS14743.1" /db_xref="GeneID:2652" /db_xref="HGNC:HGNC:4206" /db_xref="MIM:300821" ORIGIN 1 maqqwslqrl agrhpqdsye dstqssifty tnsnstrgpf egpnyhiapr wvyhltsvwm 61 ifvviasvft nglvlaatmk fkklrhplnw ilvnlavadl aetviastis vvnqvygyfv 121 lghpmcvleg ytvslcgitg lwslaiiswe rwmvvckpfg nvrfdaklai vgiafswiwa 181 avwtappifg wsrywphglk tscgpdvfsg ssypgvqsym ivlmvtccit plsiivlcyl 241 qvwlairava kqqkesestq kaekevtrmv vvmvlafcfc wgpyaffacf aaanpgypfh 301 plmaalpaff aksatiynpv iyvfmnrqfr ncilqlfgkk vddgselssa sktevssvss 361 vspa // LOCUS NP_001372376 595 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 3 [Homo sapiens]. ACCESSION NP_001372376 VERSION NP_001372376.1 DBSOURCE REFSEQ: accession NM_001385447.1 KEYWORDS RefSeq. SOURCE Homo 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 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 595) 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 595) 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 595) 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]. FEATURES Location/Qualifiers source 1..595 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q21.1" Protein 1..595 /product="neuroblastoma breakpoint family member 15 isoform 3" /note="neuroblastoma breakpoint family member 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=68747 CDS 1..595 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385447.1:749..2536" /note="isoform 3 is encoded by transcript variant 53" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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 NP_001372334 670 aa linear PRI 30-AUG-2020 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 :: SRR1660803.165915.1, SRR7410570.51163.1 [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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 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="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372306 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372306 VERSION NP_001372306.1 DBSOURCE REFSEQ: accession NM_001385377.1 KEYWORDS RefSeq. SOURCE Homo 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 :: SRR7410570.26751.1 [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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385377.1:991..3003" /note="isoform 1 is encoded by transcript variant 7" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001077007 1075 aa linear PRI 30-AUG-2020 DEFINITION POTE ankyrin domain family member E [Homo sapiens]. ACCESSION NP_001077007 VERSION NP_001077007.1 DBSOURCE REFSEQ: accession NM_001083538.3 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 1075) AUTHORS Shen Z, Feng X, Fang Y, Li Y, Li Z, Zhan Y, Lin M, Li G, Ding Y and Deng H. TITLE POTEE drives colorectal cancer development via regulating SPHK1/p65 signaling JOURNAL Cell Death Dis 10 (11), 863 (2019) PUBMED 31723122 REMARK GeneRIF: POTEE drives colorectal cancer development via regulating SPHK1/p65 signaling. Publication Status: Online-Only REFERENCE 2 (residues 1 to 1075) AUTHORS Vekariya U, Rawat K, Saxena R and Tripathi RK. TITLE Identification of MPhi specific POTEE expression: Its role in mTORC2 activation via protein-protein interaction in TAMs JOURNAL Cell. Immunol. 335, 30-40 (2019) PUBMED 30420269 REMARK GeneRIF: In TAMs, POTEE was involved differential protein-protein interaction with mTOR, RICTOR, and Rad51 indicating its biological role in cell invasion through mTORC2 activation. REFERENCE 3 (residues 1 to 1075) AUTHORS Vekariya U, Saxena R, Singh P, Rawat K, Kumar B, Kumari S, Agnihotri SK, Kaur S, Sachan R, Nazir A, Bhadauria S, Sachdev M and Tripathi RK. TITLE HIV-1 Nef-POTEE; A novel interaction modulates macrophage dissemination via mTORC2 signaling pathway JOURNAL Life Sci. 214, 158-166 (2018) PUBMED 30391463 REMARK GeneRIF: POTEE interaction with HIV-1 Nef regulates mTORC2 activation in macrophages. REFERENCE 4 (residues 1 to 1075) AUTHORS Cine N, Baykal AT, Sunnetci D, Canturk Z, Serhatli M and Savli H. TITLE Identification of ApoA1, HPX and POTEE genes by omic analysis in breast cancer JOURNAL Oncol. Rep. 32 (3), 1078-1086 (2014) PUBMED 24969553 REMARK GeneRIF: Data show that HPX, POTEE and ApoA1 are deregulated in breast tumors suggesting un important role in breast tumorigenesis. REFERENCE 5 (residues 1 to 1075) 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 6 (residues 1 to 1075) AUTHORS Bera TK, Saint Fleur A, Ha D, Yamada M, Lee Y, Lee B, Hahn Y, Kaufman DS, Pera M and Pastan I. TITLE Selective POTE paralogs on chromosome 2 are expressed in human embryonic stem cells JOURNAL Stem Cells Dev. 17 (2), 325-332 (2008) PUBMED 18447647 REMARK GeneRIF: The POTE paralogs that are expressed in ES cells may have a specific function during lineage-specific differentiation of ES cells. REFERENCE 7 (residues 1 to 1075) AUTHORS Lee Y, Ise T, Ha D, Saint Fleur A, Hahn Y, Liu XF, Nagata S, Lee B, Bera TK and Pastan I. TITLE Evolution and expression of chimeric POTE-actin genes in the human genome JOURNAL Proc. Natl. Acad. Sci. U.S.A. 103 (47), 17885-17890 (2006) PUBMED 17101985 REFERENCE 8 (residues 1 to 1075) AUTHORS Chang KW, Yang PY, Lai HY, Yeh TS, Chen TC and Yeh CT. TITLE Identification of a novel actin isoform in hepatocellular carcinoma JOURNAL Hepatol. Res. 36 (1), 33-39 (2006) PUBMED 16824795 REFERENCE 9 (residues 1 to 1075) AUTHORS Hahn Y, Bera TK, Pastan IH and Lee B. TITLE Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains JOURNAL Gene 366 (2), 238-245 (2006) PUBMED 16364570 REFERENCE 10 (residues 1 to 1075) AUTHORS Bera TK, Huynh N, Maeda H, Sathyanarayana BK, Lee B and Pastan I. TITLE Five POTE paralogs and their splice variants are expressed in human prostate and encode proteins of different lengths JOURNAL Gene 337, 45-53 (2004) PUBMED 15276201 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC131180.3. 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## CDS exon combination :: AY462871.1 [ECO:0000331] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1075 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q21.1" Protein 1..1075 /product="POTE ankyrin domain family member E" /note="protein expressed in prostate, ovary, testis, and placenta 2; cancer/testis antigen family 104, member 2; ANKRD26-like family C member 1A; prostate, ovary, testis-expressed protein on chromosome 2" /calculated_mol_wt=121233 Region 143..193 /region_name="Ank_4" /note="Ankyrin repeats (many copies); pfam13637" /db_xref="CDD:290365" Region 167..292 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 172..201 /region_name="ANK 1" /note="propagated from UniProtKB/Swiss-Prot (Q6S8J3.3)" Region 174..203 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 177..269 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 205..236 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 205..234 /region_name="ANK 2" /note="propagated from UniProtKB/Swiss-Prot (Q6S8J3.3)" Region 233..357 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Site order(238,240,244..245,248..250,252..253,257,260,269,271, 273,277..278,281..283,285..286,290,293,302,304,306, 310..311,314..316,318..319,323,326,335) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 238..269 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 238..267 /region_name="ANK 3" /note="propagated from UniProtKB/Swiss-Prot (Q6S8J3.3)" Region 243..335 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Region 271..302 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 271..300 /region_name="ANK 4" /note="propagated from UniProtKB/Swiss-Prot (Q6S8J3.3)" Region 304..335 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 304..333 /region_name="ANK 5" /note="propagated from UniProtKB/Swiss-Prot (Q6S8J3.3)" Region 701..1075 /region_name="NBD_sugar-kinase_HSP70_actin" /note="Nucleotide-Binding Domain of the sugar kinase/HSP70/actin superfamily; cl17037" /db_xref="CDD:302596" Region 702..1075 /region_name="Actin-like" /note="propagated from UniProtKB/Swiss-Prot (Q6S8J3.3)" Region 705..1075 /region_name="ACTIN" /note="Actin; smart00268" /db_xref="CDD:214592" Site order(711..714,716,718,837,854..857) /site_type="other" /note="nucleotide binding site [chemical binding]" /db_xref="CDD:212657" CDS 1..1075 /gene="POTEE" /gene_synonym="A26C1; A26C1A; CT104.2; POTE-2; POTE2; POTE2gamma" /coded_by="NM_001083538.3:629..3856" /db_xref="CCDS:CCDS46414.1" /db_xref="GeneID:445582" /db_xref="HGNC:HGNC:33895" /db_xref="MIM:608914" ORIGIN 1 mvvevdsmpa assvkkpfgl rskmgkwccr cfpcyresgk snvgtsgdhd dsamktlrsk 61 mgkwchhcfp ccrgsgksnv gasgdhddsa mktlrnkmgk wcchcfpccr gsgkskvgaw 121 gdyddsafme pryhvrgedl dklhraawwg kvprkdlivm lrdtdvnkkd kqkrtalhla 181 sangnsevvk llldrrcqln vldnkkrtal ikavqcqede calmllehgt dpnipdeygn 241 ttlhyaiyne dklmakalll ygadiesknk hgltplllgv heqkqqvvkf likkkanlna 301 ldrygrtali lavccgsasi vsllleqnid vssqdlsgqt areyavsshh hvicqllsdy 361 kekqmlkiss ensnpeqelk ltseeesqrf kgsensqpek msqeleinkd gdreveeemk 421 khesnnvgll enltngvtag ngdnglipqr ksrtpenqqf pdneseeyhr icellsdyke 481 kqmpkyssen snpeqdlklt seeesqrlkg sengqpekrs qepeinkdgd relenfmaie 541 emkkhgsthv gfpenltnga tagngddgli pprksrtpes qqfpdtenee yhsdeqndtq 601 kqfceeqntg ilhdeilihe ekqievvekm nselslsckk ekdvlhenst lreeiamlrl 661 eldtmkhqsq lrekkyledi esvkkkndnl lkalqlnelt mdddtavlvi dngsgmckag 721 fagddaprav fpsivgrprq qgmmggmhqk esyvgkeaqs krgiltlkyp mehgiitnwd 781 dmekiwhhtf ynelrvapee hpillteapl npkanrekmt qimfetfntp amyvaiqavp 841 slytsgrttg ivmdsgdgvt htvpiyegna lphatlrldl agrelpdylm kiltergyrf 901 ttmaereivr dikeklcyva ldfeqemata assssleksy elpdgqviti gnerfrcpea 961 lfqpcflgme scgihettfn simksdvdir kdlytntvls ggttmypgma hrmqkeiaal 1021 apsmmkirii appkrkysvw vggsilasls tfqqmwiskq eydesgpsiv hrkcf // LOCUS NP_001155907 196 aa linear PRI 30-AUG-2020 DEFINITION ankyrin repeat domain-containing protein 66 [Homo sapiens]. ACCESSION NP_001155907 XP_002342642 XP_002346821 VERSION NP_001155907.3 DBSOURCE REFSEQ: accession NM_001162435.3 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 196) 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 2 (residues 1 to 196) AUTHORS Bonaldo MF, Lennon G and Soares MB. TITLE Normalization and subtraction: two approaches to facilitate gene discovery JOURNAL Genome Res. 6 (9), 791-806 (1996) PUBMED 8889548 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL451143.15 and AL161618.17. On Aug 14, 2020 this sequence version replaced NP_001155907.2. ##Evidence-Data-START## Transcript exon combination :: SRR1803616.31604.1, AK304342.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..196 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p12.3" Protein 1..196 /product="ankyrin repeat domain-containing protein 66" /calculated_mol_wt=21895 CDS 1..196 /gene="ANKRD66" /coded_by="NM_001162435.3:155..745" /db_xref="CCDS:CCDS59024.1" /db_xref="GeneID:100287718" /db_xref="HGNC:HGNC:44669" ORIGIN 1 melakmsdmt klhqavaagd yslvkkilkk glcdpnykdv dwndrtplhw aaikgqmevi 61 rllieygarp clvtsvgwtp ahfaaeaghl nilktlhalh aaidapdffg dtpkriaqiy 121 gqkacvafle kaepecqdhr caaqqkglpl derdedwdak krelelslps lnqnmnkknk 181 ksrgptrpsn tkgrrv // LOCUS NP_536723 392 aa linear PRI 30-AUG-2020 DEFINITION serpin B11 isoform a [Homo sapiens]. ACCESSION NP_536723 VERSION NP_536723.2 DBSOURCE REFSEQ: accession NM_080475.5 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 392) 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, 22 (2013) PUBMED 24172014 REMARK Review article Publication Status: Online-Only REFERENCE 2 (residues 1 to 392) AUTHORS Lim W, Kim JH, Ahn SE, Jeong W, Kim J, Bazer FW, Han JY and Song G. TITLE Avian SERPINB11 gene: a marker for ovarian endometrioid cancer in chickens JOURNAL Exp. Biol. Med. (Maywood) 237 (2), 150-159 (2012) PUBMED 22289513 REMARK GeneRIF: SERPINB11 has a role in ovarian endometrioid carcinoma in chickens and human REFERENCE 3 (residues 1 to 392) AUTHORS Seixas S, Ivanova N, Ferreira Z, Rocha J and Victor BL. TITLE Loss and gain of function in SERPINB11: an example of a gene under selection on standing variation, with implications for host-pathogen interactions JOURNAL PLoS ONE 7 (2), e32518 (2012) PUBMED 22393410 REMARK GeneRIF: SERPINB11 is a gene under selection on standing variation, with roles in host-pathogen interactions REFERENCE 4 (residues 1 to 392) AUTHORS Askew DJ, Cataltepe S, Kumar V, Edwards C, Pace SM, Howarth RN, Pak SC, Askew YS, Bromme D, Luke CJ, Whisstock JC and Silverman GA. TITLE SERPINB11 is a new noninhibitory intracellular serpin. Common single nucleotide polymorphisms in the scaffold impair conformational change JOURNAL J. Biol. Chem. 282 (34), 24948-24960 (2007) PUBMED 17562709 REMARK GeneRIF: SERPINB11 is a new noninhibitory intracellular serpin REFERENCE 5 (residues 1 to 392) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC069356.6 and KF459701.1. On Aug 16, 2007 this sequence version replaced NP_536723.1. 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 :: AY739645.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## polymorphic pseudogene :: PMID: 22393410 ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..392 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="18" /map="18q21.33" Protein 1..392 /product="serpin B11 isoform a" /note="serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11; serpin peptidase inhibitor, clade B (ovalbumin), member 11; serpin B11" /calculated_mol_wt=43962 Region 4..392 /region_name="ovalbumin_like" /note="The ovalbumin_like group of serpins contains ovalbumin, the squamous cell carcinoma antigen 1 (SCCA1) and other closely related serpins of clade B of the serpin superfamily. Ovalbumin, the major protein component of avian egg white, is a non-inhibitory...; cd02059" /db_xref="CDD:239014" Region 341..365 /region_name="RCL. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q96P15.1)" Site order(343..353,365..370) /site_type="other" /note="reactive center loop" /db_xref="CDD:239014" Site 357..358 /site_type="other" /note="Reactive bond. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q96P15.1)" CDS 1..392 /gene="SERPINB11" /gene_synonym="EPIPIN; SERPIN11" /coded_by="NM_080475.5:246..1424" /note="isoform a is encoded by transcript variant 1" /db_xref="GeneID:89778" /db_xref="HGNC:HGNC:14221" /db_xref="MIM:615682" ORIGIN 1 mgslstanve fcldvfkeln snnigdniff sslsllyals mvllgarget eeqlekvlhf 61 shtvdslkpg fkdspkcsqa grihsefgve fsqinqpdsn ctlsianrly gtktmafhqq 121 ylscsekwyq arlqtvdfeq steetrktin awvenktngk vanlfgksti dpssvmvlvn 181 aiyfkgqwqn kfqvretvks pfqlsegknv tvemmyqigt fklafvkepq mqvlelpyvn 241 nklsmiillp vgianlkqie kqlnsgtfhe wtsssnmmer evevhlprfk letkyelnsl 301 lkslgvtdlf nqvkadlsgm sptkglylsk aihksyldvs eegteaaaat gdsiavkslp 361 mraqfkanhp flffirhtht ntilfcgkla sp // LOCUS NP_004671 554 aa linear PRI 30-AUG-2020 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; 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 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, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K 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. 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. ##RefSeq-Attributes-START## 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="testis-specific chromodomain protein on Y; chromodomain protein, Y chromosome, 1; chromodomain protein, Y-linked, 1; testis-specific chromodomain protein Y 1" /calculated_mol_wt=61886 Region 5..58 /region_name="CHROMO" /note="Chromatin organization modifier domain; smart00298" /db_xref="CDD:214605" Site order(6,26,28,31,35,39,43..44) /site_type="other" /note="histone binding site" /db_xref="CDD:237991" 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="other" /note="oxyanion hole (OAH) forming residues" /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 NP_001164226 670 aa linear PRI 30-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001164226 VERSION NP_001164226.1 DBSOURCE REFSEQ: accession NM_001170755.3 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 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology ##RefSeq-Attributes-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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 Region 182..240 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 269..327 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 340..402 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 415..477 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 490..552 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" Region 583..644 /region_name="DUF1220" /note="Repeat of unknown function (DUF1220); pfam06758" /db_xref="CDD:284231" CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001170755.3:1590..3602" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS72852.1" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001122105 1639 aa linear PRI 31-AUG-2020 DEFINITION RIMS-binding protein 3C [Homo sapiens]. ACCESSION NP_001122105 XP_036942 VERSION NP_001122105.1 DBSOURCE REFSEQ: accession NM_001128633.2 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 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## 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="RIM-BP3.C; RIMS binding protein 3.3" /calculated_mol_wt=180819 Region <75..139 /region_name="GBP_C" /note="Guanylate-binding protein, C-terminal domain; cl20817" /db_xref="CDD:303769" Region 106..117 /region_name="coiled coil" /note="coiled coil [structural motif]" /db_xref="CDD:293879" 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 III domain; pfam00041" /db_xref="CDD:278470" Site order(1069..1070,1072..1073) /site_type="other" /note="Cytokine receptor motif" /db_xref="CDD:238020" Region 1456..1517 /region_name="SH3" /note="Src Homology 3 domain superfamily; cl17036" /db_xref="CDD:302595" 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_001372307 670 aa linear PRI 31-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372307 VERSION NP_001372307.1 DBSOURCE REFSEQ: accession NM_001385378.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: BC023087.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385378.1:1349..3361" /note="isoform 1 is encoded by transcript variant 8" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372350 670 aa linear PRI 31-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372350 VERSION NP_001372350.1 DBSOURCE REFSEQ: accession NM_001385421.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385421.1:1384..3396" /note="isoform 1 is encoded by transcript variant 27" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372370 670 aa linear PRI 31-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372370 VERSION NP_001372370.1 DBSOURCE REFSEQ: accession NM_001385441.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385441.1:1109..3121" /note="isoform 1 is encoded by transcript variant 47" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001166161 665 aa linear PRI 31-AUG-2020 DEFINITION zinc finger protein 573 isoform 3 [Homo sapiens]. ACCESSION NP_001166161 VERSION NP_001166161.1 DBSOURCE REFSEQ: accession NM_001172690.2 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 665) 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 REFERENCE 2 (residues 1 to 665) 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 3 (residues 1 to 665) AUTHORS Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S and Malek J. CONSRTM MGC Project Team TITLE The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) JOURNAL Genome Res. 14 (10B), 2121-2127 (2004) PUBMED 15489334 REMARK Erratum:[Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to Morin, Ryan]] REFERENCE 4 (residues 1 to 665) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BP274132.1, BC042170.2 and AK055483.1. Transcript Variant: This variant (3) lacks three alternate exons and uses an upstream start codon, compared to variant 1. The resulting isoform (3) has a longer and distinct N-terminus, compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: BP274132.1, SRR7346977.913242.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## 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="19" /map="19q13.12" Protein 1..665 /product="zinc finger protein 573 isoform 3" /calculated_mol_wt=78051 Region 28..89 /region_name="KRAB" /note="krueppel associated box; smart00349" /db_xref="CDD:214630" Region 28..67 /region_name="KRAB" /note="KRAB box; pfam01352" /db_xref="CDD:279668" 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 164..184 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(164,167,180,184) /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" Site order(220,223,236,240) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(225,227,229,231..232,235..236,239,253,255,259..260, 263..264,267,281,283,285,287..288,291..292) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 244..628 /region_name="COG5048" /note="FOG: Zn-finger [General function prediction only]" /db_xref="CDD:227381" 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 260..285 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 276..292 /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" Site order(304,307,320,324) /site_type="other" /note="Zn binding site [ion binding]" /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" Region 360..380 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(360,363,376,380) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(365,367,369,371..372,375..376,379,393,395,399..400, 403..404,407,421,423,425,427..428,431..432,435) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 388..408 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(388,391,404,408) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 401..424 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" 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" Region 444..464 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(444,447,460,464) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(449,451,453,455..456,459..460,463,477,479,483..484, 487..488,491,505,507,509,511..512,515..516,519) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 472..492 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(472,475,488,492) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 484..508 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 500..520 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(500,503,516,520) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 512..536 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 528..548 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(528,531,544,548) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 556..576 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(556,559,572,576) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 584..604 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(584,587,600,604) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Site order(589,591,593,595..596,599..600,603,617,619,623..624, 627..628,631,645,647,649,651..652,655..656,659) /site_type="other" /note="putative nucleic acid binding site [nucleotide binding]" /db_xref="CDD:275368" Region 596..621 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 612..632 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(612,615,628,632) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" Region 624..649 /region_name="zf-H2C2_2" /note="Zinc-finger double domain; pfam13465" /db_xref="CDD:290200" Region 640..660 /region_name="C2H2 Zn finger" /note="C2H2 Zn finger [structural motif]" /db_xref="CDD:275368" Site order(640,643,656,660) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:275368" CDS 1..665 /gene="ZNF573" /coded_by="NM_001172690.2:66..2063" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS59381.1" /db_xref="GeneID:126231" /db_xref="HGNC:HGNC:26420" ORIGIN 1 mfpvlephqv glirsynskt mtcfqelvtf rdvaidfsrq eweyldpnqr dlyrdvmlen 61 yrnlvslggh siskpvvvdl lergkepwmi lreetqftdl dlqceiisyi evptyetdis 121 stqlqsiykr eklyeckkcq kkfssgyqli lhhrfhvier pyeckecgkn frsgyqltlh 181 qrfhtgekpy ectecgknfr sgyqltvhqr fhtgektyec rqcgkafiya shivqherih 241 tggkpyecqe cgrafsqggh lrihqrvhtg ekpykckecg ktfsrrsnlv ehgqfhtdek 301 pyicekcgka frrghqltvh qrvhtgkkpy eckecgkgyt tasyfllhqr ihkggkpyec 361 keckktftly rnltrhqnih tgeklfeckq cgktyttgsk lfqhqkthtg ekpyeckecg 421 kafslygylk qhqkihtgmk hfeckeckkt ftlyrnltrh qnihtgkklf ecqecgkays 481 tgsnliqhrk thtgekpykc kecgktfslh gylnqhqkih tgmkpyeckv crktftfyrn 541 ltlhqsihtd ekpfeckecg ktfrrsshlt ahqsihadkk pyeckecgka fkmygyltqh 601 qkihtggkpy eckecgkafs rasnlvqher ihtgekpyvc kqcgktfryg salkahqrih 661 rsikv // LOCUS NP_001372347 670 aa linear PRI 31-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372347 VERSION NP_001372347.1 DBSOURCE REFSEQ: accession NM_001385418.1 KEYWORDS RefSeq. SOURCE Homo 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 :: SRR7410570.26743.1 [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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385418.1:986..2998" /note="isoform 1 is encoded by transcript variant 24" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372339 670 aa linear PRI 31-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372339 VERSION NP_001372339.1 DBSOURCE REFSEQ: accession NM_001385410.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: SRR7410570.51164.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385410.1:867..2879" /note="isoform 1 is encoded by transcript variant 16" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372337 670 aa linear PRI 31-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372337 VERSION NP_001372337.1 DBSOURCE REFSEQ: accession NM_001385408.1 KEYWORDS RefSeq. SOURCE Homo 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 :: SRR1803616.103722.1 [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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385408.1:1227..3239" /note="isoform 1 is encoded by transcript variant 14" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372343 670 aa linear PRI 31-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372343 VERSION NP_001372343.1 DBSOURCE REFSEQ: accession NM_001385414.1 KEYWORDS RefSeq. SOURCE Homo 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 :: SRR1803616.277173.1 [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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385414.1:1181..3193" /note="isoform 1 is encoded by transcript variant 20" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001372355 670 aa linear PRI 31-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372355 VERSION NP_001372355.1 DBSOURCE REFSEQ: accession NM_001385426.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385426.1:1458..3470" /note="isoform 1 is encoded by transcript variant 32" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001358553 187 aa linear PRI 31-AUG-2020 DEFINITION myc target protein 1 isoform 2 [Homo sapiens]. ACCESSION NP_001358553 VERSION NP_001358553.1 DBSOURCE REFSEQ: accession NM_001371624.1 KEYWORDS RefSeq. SOURCE Homo 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 Wang HT, Tong X, Zhang ZX, Sun YY, Yan W, Xu ZM and Fu WN. TITLE MYCT1 represses apoptosis of laryngeal cancerous cells through the MAX/miR-181a/NPM1 pathway JOURNAL FEBS J. 286 (19), 3892-3908 (2019) PUBMED 31152622 REMARK GeneRIF: MYCT1 may synergistically interact with MAX as a co-transcription factor or a component of MAX transcriptional complex, to transcriptionally regulate the expression of miR-181a, which, in turn, decreases NPM1 expression at post-transcriptional levels, leading to enhanced apoptosis in laryngeal cancer cells REFERENCE 2 (residues 1 to 187) AUTHORS Pu J, Wang J, Xu Z, Lu Y, Wu X, Wu Y, Shao Z, Tang Q and Wei H. TITLE miR-632 Functions as Oncogene in Hepatocellular Carcinoma via Targeting MYCT1 JOURNAL Hum Gene Ther Clin Dev 30 (2), 67-73 (2019) PUBMED 30982352 REMARK GeneRIF: miR-632 was upregulated and MYCT1 was downregulated in HCC. High miR-632 or low MYCT1 expression was shown as a predictor for poor overall survival of HCC patients. The study also found miR-632 was able to regulate HCC cell growth and invasion through targeting the expression of MYCT1. REFERENCE 3 (residues 1 to 187) AUTHORS Qu SY, Sun YY, Li YH, Xu ZM and Fu WN. TITLE YY1 directly suppresses MYCT1 leading to laryngeal tumorigenesis and progress JOURNAL Cancer Med 6 (6), 1389-1398 (2017) PUBMED 28485541 REMARK GeneRIF: YY1 promotes proliferation and migration with suppression of apoptosis via directly inhibiting MYCT1 in laryngeal cancer cells, suggesting that YY1 is a useful target as a potential oncogene in laryngeal cancer development and progression. REFERENCE 4 (residues 1 to 187) AUTHORS Wu S, Gui J, Yin X, Pan Q, Liu X and Chu L. TITLE Transmembrane domain is crucial to the subcellular localization and function of Myc target 1 JOURNAL J. Cell. Mol. Med. 20 (3), 471-481 (2016) PUBMED 26710964 REMARK GeneRIF: Overexpression of MYCT1, decreased cell viability under serum deprivation and increased tumour cell migration ability. REFERENCE 5 (residues 1 to 187) AUTHORS Zhang WD, Chen HX, Wang YX, Chen ZP, Shan ZJ and Xu G. TITLE Bioinformatic analysis of c-Myc target from laryngeal cancer cell gene of laryngeal cancer JOURNAL J Cancer Res Ther 12 (1), 58-61 (2016) PUBMED 27072211 REMARK GeneRIF: this study has provided the theoretical basis for the further discussion of the effect and mechanism of action of MTLC in the occurrence of laryngeal cancer. REFERENCE 6 (residues 1 to 187) AUTHORS Yang M, Li W, Liu YY, Fu S, Qiu GB, Sun KL and Fu WN. TITLE Promoter hypermethylation-induced transcriptional down-regulation of the gene MYCT1 in laryngeal squamous cell carcinoma JOURNAL BMC Cancer 12, 219 (2012) PUBMED 22672838 REMARK GeneRIF: hypermethylation contributed to the transcriptional down-regulation of MYCT1 and could inhibit cancer cell differentiation in laryngeal squamous cell cancer. Publication Status: Online-Only REFERENCE 7 (residues 1 to 187) AUTHORS Liddiard,K., Burnett,A.K., Darley,R.L. and Tonks,A. TITLE RUNX1-ETO deregulates the proliferation and growth factor responsiveness of human hematopoietic progenitor cells downstream of the myeloid transcription factor, MYCT1 JOURNAL Leukemia 26 (1), 177-179 (2012) PUBMED 21799513 REMARK GeneRIF: results suggest MYCT1 transcription can be activated downstream of RUNX1-ETO as well as MYC, contributing to key aspects of the leukaemic phenotypes these oncoproteins promote REFERENCE 8 (residues 1 to 187) AUTHORS Fu S, Guo Y, Chen H, Xu ZM, Qiu GB, Zhong M, Sun KL and Fu WN. TITLE MYCT1-TV, a novel MYCT1 transcript, is regulated by c-Myc and may participate in laryngeal carcinogenesis JOURNAL PLoS ONE 6 (10), e25648 (2011) PUBMED 21998677 REMARK GeneRIF: MYCT1-TV, a novel MYCT1 transcript, is regulated by c-Myc and down-regulation of MYCT1-TV/MYCT1 could contribute to LSCC development and function REFERENCE 9 (residues 1 to 187) AUTHORS Qiu GB, Gong LG, Hao DM, Zhen ZH and Sun KL. TITLE Expression of MTLC gene in gastric carcinoma JOURNAL World J. Gastroenterol. 9 (10), 2160-2163 (2003) PUBMED 14562369 REMARK GeneRIF: MTLC was down-regulated in the majority of gastric cancer tissues and could promote apoptosis of GC cell lines, which suggests that MTLC may play an important role in the carcinogenesis of gastric carcinoma. REFERENCE 10 (residues 1 to 187) AUTHORS Qiu G, Qiu G, Xu Z, Huang D, Gong L, Li C, Sun X and Sun K. TITLE [Cloning and characterization of MTLC, a novel gene in 6q25] JOURNAL Zhonghua Yi Xue Yi Chuan Xue Za Zhi 20 (2), 94-97 (2003) PUBMED 12673574 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL390960.20. 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.347794.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..187 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6q25.2" Protein 1..187 /product="myc target protein 1 isoform 2" /note="myc target in myeloid cells 1; myc target in myeloid cells protein 1; myc target protein 1" /calculated_mol_wt=20704 Region 1..186 /region_name="Myc_target_1" /note="Myc target protein 1; pfam15179" /db_xref="CDD:373625" CDS 1..187 /gene="MYCT1" /gene_synonym="MTLC" /coded_by="NM_001371624.1:102..665" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:80177" /db_xref="HGNC:HGNC:23172" /db_xref="MIM:616805" ORIGIN 1 mannttslgs pwpenfwedl imsftvsmai glvlggfiwa vficlsrrrr asapisqwss 61 srrsrssyth glnrtgfyrh sgcerrsnls lasltfqrqa sleqansfpr kssfrastfh 121 pflqcpplpv etesqlvtlp ssnisptist shslsrpdyw ssnslrvgls tppppayesi 181 ikafpds // LOCUS NP_001372372 633 aa linear PRI 31-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 2 [Homo sapiens]. ACCESSION NP_001372372 VERSION NP_001372372.1 DBSOURCE REFSEQ: accession NM_001385443.1 KEYWORDS RefSeq. SOURCE Homo 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 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 633) 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 633) 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 633) 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 :: SRR1803617.114851.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..633 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q21.1" Protein 1..633 /product="neuroblastoma breakpoint family member 15 isoform 2" /note="neuroblastoma breakpoint family member 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=73281 CDS 1..633 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385443.1:956..2857" /note="isoform 2 is encoded by transcript variant 49" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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 deghrwdqvk 301 kedqeatgpr lsrelldeke pevlqdsldr cystpsgcle ltdscqpyrs afyvleqqrv 361 glaidmdeie kyqeveedqd pscprlsrel ldekepevlq dsldrcystp sdylelpdlg 421 qpyssavysl eeqylglald vdrikkdqee eedqgppcpr lsrellevve pevlqdsldr 481 cystpsscle qpdscqpygs sfyaleekhv gfsldvgeie kkgkgkkrrg rrskkkrrrg 541 rkegeddnpp cprlygvlme veepevlqds ldrcystpsm yfeqpdsfqh yrsvfysfee 601 ehisfalyvd nrfftltvts lhlvfqmgvi fpq // LOCUS NP_001013425 476 aa linear PRI 31-AUG-2020 DEFINITION PRAME family member 5 [Homo sapiens]. ACCESSION NP_001013425 NP_001269252 XP_001128630 XP_001130065 VERSION NP_001013425.2 DBSOURCE REFSEQ: accession NM_001013407.4 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 476) 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 REFERENCE 2 (residues 1 to 476) 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 AC244216.2. On or before May 14, 2015 this sequence version replaced NP_001269252.1, NP_001013425.1. ##Evidence-Data-START## Transcript exon combination :: BC130274.1 [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..476 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p36.21" Protein 1..476 /product="PRAME family member 5" /note="PRAME family member 23" /calculated_mol_wt=54755 Region 97..124 /region_name="LRR 1, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2)" Region 179..203 /region_name="LRR 2, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2)" Region 204..230 /region_name="LRR 3, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2)" Region 231..266 /region_name="LRR 4, degenerate. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2)" Region 267..292 /region_name="LRR 5. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2)" Region 293..324 /region_name="LRR 6. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2)" Region 325..345 /region_name="LRR 7. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2)" Region 349..376 /region_name="LRR 8. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2)" Region 377..401 /region_name="LRR 9. /evidence=ECO:0000250|UniProtKB:Q3UWY1" /note="propagated from UniProtKB/Swiss-Prot (Q5TYX0.2)" CDS 1..476 /gene="PRAMEF5" /gene_synonym="PRAMEF23; PRAMEF5L" /coded_by="NM_001013407.4:102..1532" /db_xref="CCDS:CCDS72708.1" /db_xref="GeneID:343068" /db_xref="HGNC:HGNC:27995" ORIGIN 1 msirtpprll elagrsllrd qalamstlee lptelfpplf meafsrrrce alklmvqawp 61 frrlplrpli kmpcleafqa vldgldallt qgvhprrwkl qvldlqdvce nfwmvwseam 121 ahgcflnakr nkkpvqdcpr mrgqqpltvf velwlknrtl deyltclllw vkqrkdllhl 181 cckklkilgm pfrnirsilk mvnldciqev evnckwvlpi ltqftpylgh mrnlqklvls 241 hmdvsryvsp eqkkeivtqf ttqflklccl qklsmnsvsf leghldqlls clktslkvlt 301 itncvllesd lkhlsqcpsi sqlktldlsg irltnyslvp lqillekvaa tleyldlddc 361 giidsqvnai lpalsrcfel ntfsfcgnpi smatlenlls htiilknlcv elypapresy 421 dadgtlcwsr fpqiraelmk rvrdlrhpkr ilfctdccpd cgnrsfydle adqccc // LOCUS NP_001372366 670 aa linear PRI 31-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372366 VERSION NP_001372366.1 DBSOURCE REFSEQ: accession NM_001385437.1 KEYWORDS RefSeq. SOURCE Homo 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## CDS exon combination :: AK290302.1, AY894566.1 [ECO:0000331] ##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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385437.1:1331..3343" /note="isoform 1 is encoded by transcript variant 43" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001273876 108 aa linear PRI 31-AUG-2020 DEFINITION thioredoxin domain-containing protein 8 isoform c [Homo sapiens]. ACCESSION NP_001273876 XP_005251937 VERSION NP_001273876.1 DBSOURCE REFSEQ: accession NM_001286947.2 KEYWORDS RefSeq. SOURCE Homo 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 Buckman C, Ozanon C, Qiu J, Sutovsky M, Carafa JA, Rawe VY, Manandhar G, Miranda-Vizuete A and Sutovsky P. TITLE Semen levels of spermatid-specific thioredoxin-3 correlate with pregnancy rates in ART couples JOURNAL PLoS ONE 8 (5), e61000 (2013) PUBMED 23734172 REMARK GeneRIF: Data indicate that the elevated semen content of SPTRX3/TXNDC8 from assisted reproductive therapy (ART) couples coincided with reduced incidence of pregnancy by in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI). Erratum:[PLoS One. 2013;8(10). doi:10.1371/annotation/5ec7a768-7129-460f-9290-57ae5d631dd9] Publication Status: Online-Only REFERENCE 2 (residues 1 to 108) 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 108) AUTHORS Jimenez A, Zu W, Rawe VY, Pelto-Huikko M, Flickinger CJ, Sutovsky P, Gustafsson JA, Oko R and Miranda-Vizuete A. TITLE Spermatocyte/spermatid-specific thioredoxin-3, a novel Golgi apparatus-associated thioredoxin, is a specific marker of aberrant spermatogenesis JOURNAL J. Biol. Chem. 279 (33), 34971-34982 (2004) PUBMED 15181017 REMARK GeneRIF: SPTRX3 is a novel Golgi apparatus-associated thioredoxin, and has a role in aberrant spermatogenesis REFERENCE 4 (residues 1 to 108) 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 HY007335.1, BC035743.1 and AL158158.14. On Nov 20, 2013 this sequence version replaced XP_005251937.1. Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, and also lacks two 3' exons but includes an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) 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. ##Evidence-Data-START## Transcript exon combination :: BC035743.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..108 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q31.3" Protein 1..108 /product="thioredoxin domain-containing protein 8 isoform c" /note="spermatocyte/spermatid-specific thioredoxin-3; thioredoxin 6; thioredoxin domain containing 8 (spermatozoa); sperm-specific thioredoxin 3; thioredoxin domain-containing protein 8" /calculated_mol_wt=12170 Region 10..77 /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..108 /gene="TXNDC8" /gene_synonym="bA427L11.2; SPTRX-3; SPTRX3; TRX6" /coded_by="NM_001286947.2:68..394" /note="isoform c is encoded by transcript variant 3" /db_xref="CCDS:CCDS69639.1" /db_xref="GeneID:255220" /db_xref="HGNC:HGNC:31454" /db_xref="MIM:617789" ORIGIN 1 mvqiikdtne fktfltaagh klavvqfssk rcgpckrmfp vfhelaetch iktiptfqmf 61 kksqkgsisr ptptselhph qkwtldssqa npsqtranfr tllkqlgk // LOCUS NP_001372336 670 aa linear PRI 31-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372336 VERSION NP_001372336.1 DBSOURCE REFSEQ: accession NM_001385407.1 KEYWORDS RefSeq. SOURCE Homo 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 :: SRR1660807.176663.1 [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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385407.1:1009..3021" /note="isoform 1 is encoded by transcript variant 13" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001001722 541 aa linear PRI 31-AUG-2020 DEFINITION testis-specific chromodomain protein Y 2 [Homo sapiens]. ACCESSION NP_001001722 XP_016548 VERSION NP_001001722.1 DBSOURCE REFSEQ: accession NM_001001722.2 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 541) 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 2 (residues 1 to 541) 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 3 (residues 1 to 541) AUTHORS Rottger S, Yen PH and Schempp W. TITLE A fiber-FISH contig spanning the non-recombining region of the human Y chromosome JOURNAL Chromosome Res. 10 (8), 621-635 (2002) PUBMED 12575791 REFERENCE 4 (residues 1 to 541) AUTHORS Wimmer R, Kuhl H, Rottger S and Schempp W. TITLE Comparative mapping of CDY and DAZ in higher primates JOURNAL Cytogenet. Genome Res. 96 (1-4), 287-289 (2002) PUBMED 12438810 REFERENCE 5 (residues 1 to 541) 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 6 (residues 1 to 541) 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 7 (residues 1 to 541) 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 8 (residues 1 to 541) 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 AC009976.4 and BC069087.1. On Aug 30, 2004 this sequence version replaced XP_016548.3. Summary: This intronless 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. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: BC069087.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..541 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="Y" /map="Yq11.222" Protein 1..541 /product="testis-specific chromodomain protein Y 2" /EC_number="2.3.1.48" /note="testis-specific chromodomain protein Y protein 2 related; chromodomain protein, Y chromosome, 2 related; chromodomain protein, Y-linked, 2B; Y chromosome chromodomain protein 2B" /calculated_mol_wt=60393 Region 5..58 /region_name="CHROMO" /note="Chromatin organization modifier domain; smart00298" /db_xref="CDD:214605" Site order(6,26,28,31,35,39,43..44) /site_type="other" /note="histone binding site" /db_xref="CDD:237991" Region 287..483 /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(307,309,340,344..348,391,393..395,417..418,421) /site_type="other" /note="substrate binding site [chemical binding]" /db_xref="CDD:119339" Site order(346,395) /site_type="other" /note="oxyanion hole (OAH) forming residues" /db_xref="CDD:119339" Site order(375,383,404..407,419..422,428,430..432,434..435, 440..441,443..444,446..447,450,461,464,479,482..483) /site_type="other" /note="trimer interface [polypeptide binding]" /db_xref="CDD:119339" CDS 1..541 /gene="CDY2B" /gene_synonym="CDY" /coded_by="NM_001001722.2:329..1954" /db_xref="CCDS:CCDS35473.1" /db_xref="GeneID:203611" /db_xref="HGNC:HGNC:23921" ORIGIN 1 masqefevea ivdkrqdkng ntqylvrwkg ydkqddtwep eqhlmncekc vhdfnrrqte 61 kqkkltwttt srifsnnarr rtsrstkany sknspktpvt dkhhrsknck lfaasknvrr 121 kaastlsdtk nmeiinstie tlapdspfdh kktvsgfqkl ekldpiaadq qdtvvfkvte 181 gkllrdplsh pgaeqtgiqn ktqmhplmsq msgsvtasma tgsatrkgiv vlidplaang 241 ttdmhtsvpr vkggqrnitd dsrgqpfikk mhftirltes aityrdivvk kedgftqivl 301 strsteknal ntevikemvn alnsaaadds klvlfsaags vfccgldfgy fvrhlrndrn 361 taslemvdti knfvntfiqf kkpivvsvng paiglgasil plcdlvwane kawfqtpytt 421 fgqspdgcss itfpkmmgka sanemliagr kltareacak glvsqvfltg tftqevmiqi 481 kelasynaiv leeckalvrc nikleleqan erecevlrki wssaqgiesm lkyvenkide 541 f // LOCUS NP_001372332 670 aa linear PRI 31-AUG-2020 DEFINITION neuroblastoma breakpoint family member 15 isoform 1 [Homo sapiens]. ACCESSION NP_001372332 VERSION NP_001372332.1 DBSOURCE REFSEQ: accession NM_001385403.1 KEYWORDS RefSeq. SOURCE Homo 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 :: SRR1660807.63422.1, ERR3218371.272688.1 [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 15; neuroblastoma breakpoint family, member 16" /calculated_mol_wt=77432 CDS 1..670 /gene="NBPF15" /gene_synonym="AB14; AG3; NBPF16" /coded_by="NM_001385403.1:1089..3101" /note="isoform 1 is encoded by transcript variant 9" /db_xref="GeneID:284565" /db_xref="HGNC:HGNC:28791" /db_xref="MIM:610414" /db_xref="MIM:614005" 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_001355092 152 aa linear PRI 31-AUG-2020 DEFINITION small integral membrane protein 28 [Homo sapiens]. ACCESSION NP_001355092 XP_024302380 VERSION NP_001355092.1 DBSOURCE REFSEQ: accession NM_001368163.3 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. 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 AL031003.1. On Jan 18, 2019 this sequence version replaced XP_024302380.1. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000573100.2/ ENSP00000489939.1 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="6" /map="6q24.1" Protein 1..152 /product="small integral membrane protein 28" /calculated_mol_wt=16420 Site 52..72 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (A0A1B0GU29.1)" CDS 1..152 /gene="SMIM28" /coded_by="NM_001368163.3:169..627" /db_xref="GeneID:110806279" /db_xref="HGNC:HGNC:53434" ORIGIN 1 mrgllgsswk kfghagrgty ewltsepglp lletqlqgtq gvsstqedve pflcillpat 61 illflaflll flyrrckspp pqgqvfsidl pehppagevt dllpglawss edfpysplpp 121 eatlpsqclp psyeeatrnp pgeeaqgcsp sv // LOCUS NP_001368929 1425 aa linear PRI 31-AUG-2020 DEFINITION coiled-coil domain-containing protein 144A isoform b [Homo sapiens]. ACCESSION NP_001368929 VERSION NP_001368929.1 DBSOURCE REFSEQ: accession NM_001382000.1 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 1425) AUTHORS Park SS, Stankiewicz P, Bi W, Shaw C, Lehoczky J, Dewar K, Birren B and Lupski JR. TITLE Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs JOURNAL Genome Res. 12 (5), 729-738 (2002) PUBMED 11997339 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC098850.2. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000399273.5/ ENSP00000382215.1 RefSeq Select criteria :: based on manual assertion, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1425 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17p11.2" Protein 1..1425 /product="coiled-coil domain-containing protein 144A isoform b" /note="coiled-coil domain-containing protein 144A" /calculated_mol_wt=164988 CDS 1..1425 /gene="CCDC144A" /coded_by="NM_001382000.1:161..4438" /note="isoform b is encoded by transcript variant 3" /db_xref="GeneID:9720" /db_xref="HGNC:HGNC:29072" ORIGIN 1 maswggekrg gaegspkpav yatrktpsvg sqgdqwylgy pgdqwssgfp yswwknsvgs 61 eskhgegald qpqhdvrled lgelhraars gdvpgvehil apgdtgvdkr drkksiqqlv 121 peykekqtpe slpqnnnpdw hptnltlsde tcqrsknlkv ddkcpsvsps mpenqsatke 181 lgqmnltere kmdtgvvlls gndtlhdlcq sqlpenkesk eaeqdselts eeeqerlkgc 241 enkqpqktsq epemakdcdr edipiypvlp hvqkseemwi eqgklewknq lklvinelkq 301 rfgeiyekyk ipacpeeepl ldnstrgtdv kdipfnltnn ipgceeedas eisvsvvfet 361 fpeqkepslk niihpyyhpy sgsqehvcqs sskfhlhenk ldcdndnkpg ighifstdkn 421 fhndastkka rnpevvmvem kedqefdlqm tknmnqnsds gstnnykslk pklenlsslp 481 pdsdrtsevy lheelqqdmq kfknevntle eeflalkked vqlhkdveee mekhrsnste 541 lsgtltdgtt vgndddglnq qiprkengeh drpadktsne knevknqiyp eadfadsmep 601 seiasedcel shsvyenfml lieqlrmeyk dsaslpriqd tfclcehllk lknnhcdqlt 661 vklkqmenmv svlqnelset kktklqlelq kiewekelyd lrlalkqene ekrnadmlyn 721 kdseqlrike eecgkvvetk qqlkwnlrrl vkelrtvrnn ldlvvqernd aqkqlseeqd 781 arilqdqilt skqkelemar kkmnseishr hqkekdlfhe dcmlqeeial lrleidtikn 841 qnkqkekkyf edieavkekn dnlqkiikln eetltetilq ysgqlnnlta enkilnsele 901 ngkqnqerle iemesyrcrl aaavrdcdqs qtardlkldf qrtrqewvrl hdkmkvdmsg 961 lqakneilse klsnaeskin slqiqlhntr dalgreslil ervqrdlsqt qcqkketeqm 1021 yqieqsklkk yiakqesvee rlsqlqsenm llrqqlddah kkansqekts stiqdqfhsa 1081 aknlqaesek qilslqeknk elmdeynhlk ermdqcekek agrkidltea qetvpsrclh 1141 ldaenevlql qqtlfsmkai qkqcetlqkn kkqlkqevvn lksymernml ergkaewhkl 1201 lieerarkei eeklneailt lqkqaavshe qlvqlrednt tsiktqmelt ikdleseisr 1261 iktsqadfnk telerykely leevkvresl snelsrtnem iaevstqltv ekeqtrsrsl 1321 ftayatrpvl espcvgnlnd seglnrkhip rkkrsalkdm esyllkmqqk lqndltaeva 1381 aatkyepgsy iasplgfthk enlnqdpvle vtkeyaqilr rkyil // LOCUS NP_689550 395 aa linear PRI 31-AUG-2020 DEFINITION uncharacterized protein C16orf46 isoform 2 [Homo sapiens]. ACCESSION NP_689550 VERSION NP_689550.2 DBSOURCE REFSEQ: accession NM_152337.3 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 395) AUTHORS Anney RJ, Lasky-Su J, O'Dushlaine C, Kenny E, Neale BM, Mulligan A, Franke B, Zhou K, Chen W, Christiansen H, Arias-Vasquez A, Banaschewski T, Buitelaar J, Ebstein R, Miranda A, Mulas F, Oades RD, Roeyers H, Rothenberger A, Sergeant J, Sonuga-Barke E, Steinhausen H, Asherson P, Faraone SV and Gill M. TITLE Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study JOURNAL Am. J. Med. Genet. B Neuropsychiatr. Genet. 147B (8), 1369-1378 (2008) PUBMED 18951430 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA525473.1, AK057264.1, AC092718.3, BC064143.1 and AA905107.1. On Aug 9, 2007 this sequence version replaced NP_689550.1. Transcript Variant: This variant (2) lacks differs in the 5' UTR and in the 3' UTR and 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 :: AK057264.1, BX460147.2 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000299578.10/ ENSP00000299578.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..395 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16q23.2" Protein 1..395 /product="uncharacterized protein C16orf46 isoform 2" /note="uncharacterized protein C16orf46" /calculated_mol_wt=43287 Region 1..395 /region_name="DUF4529" /note="Protein of unknown function (DUF4529); pfam15032" /db_xref="CDD:291691" CDS 1..395 /gene="C16orf46" /coded_by="NM_152337.3:231..1418" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS10932.1" /db_xref="GeneID:123775" /db_xref="HGNC:HGNC:26525" ORIGIN 1 mdlcqknetd lenaenneiq fteeteptyt cpdgkseknh vyclldvsdi tleqdekake 61 fiigtgweea vqgwgrtspa aciwprkipk karvgegacs dclvcvnlsh wslqtkppte 121 ggpekdqssp sqtqaapqgp stasraisdi cfptyfraek kslqikefiw cnkdwaipgt 181 nrgkasgnps ggahrglsip gpltsrallv lpplkaslsn aldvlgkksk nsflqseekv 241 ldvekdgcva yayglktadg kgekrasela khpmvndtps spspaaqisl ltdpeqrclh 301 wsllseknla cppdpsnvry laalqllqkr gvqsykskfk akeprspvit rkhvlpkakq 361 enrpqmletk vfprpvlpsl tvsrviipvs thril // LOCUS NP_001357404 392 aa linear PRI 31-AUG-2020 DEFINITION serpin B11 isoform a [Homo sapiens]. ACCESSION NP_001357404 XP_011524553 VERSION NP_001357404.1 DBSOURCE REFSEQ: accession NM_001370475.1 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 392) 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, 22 (2013) PUBMED 24172014 REMARK Review article Publication Status: Online-Only REFERENCE 2 (residues 1 to 392) AUTHORS Lim W, Kim JH, Ahn SE, Jeong W, Kim J, Bazer FW, Han JY and Song G. TITLE Avian SERPINB11 gene: a marker for ovarian endometrioid cancer in chickens JOURNAL Exp. Biol. Med. (Maywood) 237 (2), 150-159 (2012) PUBMED 22289513 REMARK GeneRIF: SERPINB11 has a role in ovarian endometrioid carcinoma in chickens and human REFERENCE 3 (residues 1 to 392) AUTHORS Seixas S, Ivanova N, Ferreira Z, Rocha J and Victor BL. TITLE Loss and gain of function in SERPINB11: an example of a gene under selection on standing variation, with implications for host-pathogen interactions JOURNAL PLoS ONE 7 (2), e32518 (2012) PUBMED 22393410 REMARK GeneRIF: SERPINB11 is a gene under selection on standing variation, with roles in host-pathogen interactions REFERENCE 4 (residues 1 to 392) AUTHORS Askew DJ, Cataltepe S, Kumar V, Edwards C, Pace SM, Howarth RN, Pak SC, Askew YS, Bromme D, Luke CJ, Whisstock JC and Silverman GA. TITLE SERPINB11 is a new noninhibitory intracellular serpin. Common single nucleotide polymorphisms in the scaffold impair conformational change JOURNAL J. Biol. Chem. 282 (34), 24948-24960 (2007) PUBMED 17562709 REMARK GeneRIF: SERPINB11 is a new noninhibitory intracellular serpin REFERENCE 5 (residues 1 to 392) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC069356.6 and KF459701.1. On May 8, 2019 this sequence version replaced XP_011524553.1. 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 :: AK292775.1, AY739645.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144335, SAMEA2147975 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000544088.6/ ENSP00000441497.1 polymorphic pseudogene :: PMID: 22393410 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="18" /map="18q21.33" Protein 1..392 /product="serpin B11 isoform a" /note="serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11; serpin peptidase inhibitor, clade B (ovalbumin), member 11; serpin B11" /calculated_mol_wt=43962 Region 4..392 /region_name="ovalbumin_like" /note="The ovalbumin_like group of serpins contains ovalbumin, the squamous cell carcinoma antigen 1 (SCCA1) and other closely related serpins of clade B of the serpin superfamily. Ovalbumin, the major protein component of avian egg white, is a non-inhibitory...; cd02059" /db_xref="CDD:239014" Region 341..365 /region_name="RCL. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q96P15.1)" Site order(343..353,365..370) /site_type="other" /note="reactive center loop" /db_xref="CDD:239014" Site 357..358 /site_type="other" /note="Reactive bond. /evidence=ECO:0000250; propagated from UniProtKB/Swiss-Prot (Q96P15.1)" CDS 1..392 /gene="SERPINB11" /gene_synonym="EPIPIN; SERPIN11" /coded_by="NM_001370475.1:63..1241" /note="isoform a is encoded by transcript variant 4" /db_xref="GeneID:89778" /db_xref="HGNC:HGNC:14221" /db_xref="MIM:615682" ORIGIN 1 mgslstanve fcldvfkeln snnigdniff sslsllyals mvllgarget eeqlekvlhf 61 shtvdslkpg fkdspkcsqa grihsefgve fsqinqpdsn ctlsianrly gtktmafhqq 121 ylscsekwyq arlqtvdfeq steetrktin awvenktngk vanlfgksti dpssvmvlvn 181 aiyfkgqwqn kfqvretvks pfqlsegknv tvemmyqigt fklafvkepq mqvlelpyvn 241 nklsmiillp vgianlkqie kqlnsgtfhe wtsssnmmer evevhlprfk letkyelnsl 301 lkslgvtdlf nqvkadlsgm sptkglylsk aihksyldvs eegteaaaat gdsiavkslp 361 mraqfkanhp flffirhtht ntilfcgkla sp // LOCUS NP_001128578 294 aa linear PRI 31-AUG-2020 DEFINITION potassium channel subfamily K member 16 isoform 3 [Homo sapiens]. ACCESSION NP_001128578 VERSION NP_001128578.1 DBSOURCE REFSEQ: accession NM_001135106.2 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 Vierra NC, Dadi PK, Milian SC, Dickerson MT, Jordan KL, Gilon P and Jacobson DA. TITLE TALK-1 channels control beta cell endoplasmic reticulum Ca(2+) homeostasis JOURNAL Sci Signal 10 (497) (2017) PUBMED 28928238 REMARK GeneRIF: data establish TALK-1 channels as key regulators of beta cell ER Ca(2+) and suggest that TALK-1 may be a therapeutic target to reduce ER Ca(2+) handling defects in beta cells during the pathogenesis of diabetes. Publication Status: Online-Only REFERENCE 2 (residues 1 to 294) AUTHORS Dickerson MT, Vierra NC, Milian SC, Dadi PK and Jacobson DA. TITLE Osteopontin activates the diabetes-associated potassium channel TALK-1 in pancreatic beta-cells JOURNAL PLoS ONE 12 (4), e0175069 (2017) PUBMED 28403169 REMARK GeneRIF: The TALK-1/iOPN complex caused Vm hyperpolarization and reduced beta-cell glucose-stimulated Ca2+ influx, which is predicted to inhibit glucose stimulated insulin secretion. Publication Status: Online-Only REFERENCE 3 (residues 1 to 294) AUTHORS Vierra NC, Dadi PK, Jeong I, Dickerson M, Powell DR and Jacobson DA. TITLE Type 2 Diabetes-Associated K+ Channel TALK-1 Modulates beta-Cell Electrical Excitability, Second-Phase Insulin Secretion, and Glucose Homeostasis JOURNAL Diabetes 64 (11), 3818-3828 (2015) PUBMED 26239056 REMARK GeneRIF: These findings reveal TALK-1 channels as important modulators of second-phase insulin secretion and suggest a clinically relevant mechanism for rs1535500, which may increase type 2 diabetes risk by limiting glucose-stimulated insulin secretion. REFERENCE 4 (residues 1 to 294) 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 294) AUTHORS Cho YS, Chen CH, Hu C, Long J, Ong RT, Sim X, Takeuchi F, Wu Y, Go MJ, Yamauchi T, Chang YC, Kwak SH, Ma RC, Yamamoto K, Adair LS, Aung T, Cai Q, Chang LC, Chen YT, Gao Y, Hu FB, Kim HL, Kim S, Kim YJ, Lee JJ, Lee NR, Li Y, Liu JJ, Lu W, Nakamura J, Nakashima E, Ng DP, Tay WT, Tsai FJ, Wong TY, Yokota M, Zheng W, Zhang R, Wang C, So WY, Ohnaka K, Ikegami H, Hara K, Cho YM, Cho NH, Chang TJ, Bao Y, Hedman AK, Morris AP, McCarthy MI, Takayanagi R, Park KS, Jia W, Chuang LM, Chan JC, Maeda S, Kadowaki T, Lee JY, Wu JY, Teo YY, Tai ES, Shu XO, Mohlke KL, Kato N, Han BG and Seielstad M. CONSRTM DIAGRAM Consortium; MuTHER Consortium TITLE Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians JOURNAL Nat. Genet. 44 (1), 67-72 (2011) PUBMED 22158537 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 294) AUTHORS Goldstein SA, Bayliss DA, Kim D, Lesage F, Plant LD and Rajan S. TITLE International Union of Pharmacology. LV. Nomenclature and molecular relationships of two-P potassium channels JOURNAL Pharmacol. Rev. 57 (4), 527-540 (2005) PUBMED 16382106 REMARK Review article REFERENCE 7 (residues 1 to 294) 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 294) AUTHORS Han J, Kang D and Kim D. TITLE Functional properties of four splice variants of a human pancreatic tandem-pore K+ channel, TALK-1 JOURNAL Am. J. Physiol., Cell Physiol. 285 (3), C529-C538 (2003) PUBMED 12724142 REMARK GeneRIF: at least two functional TALK-1 variants are present and may serve as background K+ currents in certain cells of the human pancreas. REFERENCE 9 (residues 1 to 294) AUTHORS Girard C, Duprat F, Terrenoire C, Tinel N, Fosset M, Romey G, Lazdunski M and Lesage F. TITLE Genomic and functional characteristics of novel human pancreatic 2P domain K(+) channels JOURNAL Biochem. Biophys. Res. Commun. 282 (1), 249-256 (2001) PUBMED 11263999 REFERENCE 10 (residues 1 to 294) AUTHORS Goldstein SA, Bockenhauer D, O'Kelly I and Zilberberg N. TITLE Potassium leak channels and the KCNK family of two-P-domain subunits JOURNAL Nat. Rev. Neurosci. 2 (3), 175-184 (2001) PUBMED 11256078 REMARK Review article COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL136087.12, CA843225.1, BC111860.1, AF358909.1 and EU978943.1. Summary: The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is expressed predominantly in the pancreas and is activated at alkaline pH. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]. Transcript Variant: This variant (3, also known as TALK-1b) contains an alternative 3' terminal exon compared to transcript variant 1, resulting in a shorter isoform (3) with 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 :: EU978943.1, AY253145.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142586, SAMEA2151405 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000437525.3/ ENSP00000415375.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..294 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p21.2" Protein 1..294 /product="potassium channel subfamily K member 16 isoform 3" /note="pancreatic potassium channel Talk-1; potassium channel, subfamily K, member 16; TWIK-related alkaline pH-activated K(+) channel 1; 2P domain potassium channel Talk-1; potassium channel, two pore domain subfamily K, member 16" /calculated_mol_wt=32376 Region <92..148 /region_name="Ion_trans_2" /note="Ion channel; pfam07885" /db_xref="CDD:285168" Region 180..246 /region_name="Ion_trans_2" /note="Ion channel; pfam07885" /db_xref="CDD:285168" CDS 1..294 /gene="KCNK16" /gene_synonym="K2p16.1; TALK-1; TALK1" /coded_by="NM_001135106.2:163..1047" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS47422.1" /db_xref="GeneID:83795" /db_xref="HGNC:HGNC:14464" /db_xref="MIM:607369" ORIGIN 1 mpsaglcscw ggrvlpllla yvcylllgat ifqllerqae aqsrdqfqle klrflenytc 61 ldqwameqfv qvimeawvkg vnpkgnstnp snwdfgssff fagtvvttig ygnlapstea 121 gqvfcvfyal lgiplnvifl nhlgtglrah laaierwedr prrsqvlqvl glalfltlgt 181 lvilifppmv fshvegwsfs egfyfafitl stigfgdyvv gtdpskhyis vyrslaaiwi 241 llglawlali lplgplllhr ccqlwllsrg lgvkdgaasd psglprpqki pisa // LOCUS NP_570966 241 aa linear PRI 31-AUG-2020 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="WAP motif protein 1; protease inhibitor WAP8; putative protease inhibitor WAP8; WAP four-disulfide core domain protein 8; 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 49..90 /region_name="WAP" /note="WAP-type (Whey Acidic Protein) 'four-disulfide core'; pfam00095" /db_xref="CDD:278522" Region 93..145 /region_name="KU" /note="BPTI/Kunitz family of serine protease inhibitors; smart00131" /db_xref="CDD:197529" Site order(103..107,109) /site_type="other" /note="trypsin interaction site" /db_xref="CDD:238057" Region <149..190 /region_name="WAP" /note="whey acidic protein-type four-disulfide core domains. Members of the family include whey acidic protein, elafin (elastase-specific inhibitor), caltrin-like protein (a calcium transport inhibitor) and other extracellular proteinase inhibitors. A group of...; cl00156" /db_xref="CDD:294103" Region 150..193 /region_name="WFDC domain" Site 151..157 /site_type="inhibition" /note="inhibitory loop" /db_xref="CDD:238120" Region 197..239 /region_name="WFDC domain" Region 199..239 /region_name="WAP" /note="WAP-type (Whey Acidic Protein) 'four-disulfide core'; pfam00095" /db_xref="CDD:278522" 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_001356132 79 aa linear PRI 31-AUG-2020 DEFINITION small integral membrane protein 40 [Homo sapiens]. ACCESSION NP_001356132 VERSION NP_001356132.1 DBSOURCE REFSEQ: accession NM_001369203.1 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. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL662820.6 and EL949692.1. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000494082.3/ ENSP00000496397.1 NMD candidate :: translation inferred from conservation 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="6" /map="6p21.32" Protein 1..79 /product="small integral membrane protein 40" /calculated_mol_wt=8818 Site 35..55 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q5STR5.9)" CDS 1..79 /gene="SMIM40" /coded_by="NM_001369203.1:15..254" /db_xref="GeneID:113523636" /db_xref="HGNC:HGNC:54073" ORIGIN 1 maeegdvdea dvflafaqgp spprgpvrra ldkaffifla lfltllmlea aykllwlllw 61 aklgdwllgt pqkeeelel // LOCUS NP_819056 612 aa linear PRI 31-AUG-2020 DEFINITION proton channel OTOP1 [Homo sapiens]. ACCESSION NP_819056 VERSION NP_819056.1 DBSOURCE REFSEQ: accession NM_177998.3 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 612) AUTHORS Tu YH, Cooper AJ, Teng B, Chang RB, Artiga DJ, Turner HN, Mulhall EM, Ye W, Smith AD and Liman ER. TITLE An evolutionarily conserved gene family encodes proton-selective ion channels JOURNAL Science 359 (6379), 1047-1050 (2018) PUBMED 29371428 REFERENCE 2 (residues 1 to 612) AUTHORS Wang GX, Cho KW, Uhm M, Hu CR, Li S, Cozacov Z, Xu AE, Cheng JX, Saltiel AR, Lumeng CN and Lin JD. TITLE Otopetrin 1 protects mice from obesity-associated metabolic dysfunction through attenuating adipose tissue inflammation JOURNAL Diabetes 63 (4), 1340-1352 (2014) PUBMED 24379350 REFERENCE 3 (residues 1 to 612) AUTHORS Kim E, Hyrc KL, Speck J, Salles FT, Lundberg YW, Goldberg MP, Kachar B, Warchol ME and Ornitz DM. TITLE Missense mutations in Otopetrin 1 affect subcellular localization and inhibition of purinergic signaling in vestibular supporting cells JOURNAL Mol. Cell. Neurosci. 46 (3), 655-661 (2011) PUBMED 21236346 REFERENCE 4 (residues 1 to 612) AUTHORS Hughes I, Binkley J, Hurle B, Green ED, Sidow A and Ornitz DM. CONSRTM NISC Comparative Sequencing Program TITLE Identification of the Otopetrin Domain, a conserved domain in vertebrate otopetrins and invertebrate otopetrin-like family members JOURNAL BMC Evol. Biol. 8, 41 (2008) PUBMED 18254951 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 612) 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 REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC011744.8, BK000653.1 and BC130432.1. Summary: This gene encodes a transmembrane protein which belongs to the otopetrin domain protein family and is required for the formation of otoconia and otoliths, calcium carbonate biominerals within the inner ear of mammals that are required for the detection of linear acceleration and gravity. This gene modulates purinergic control of intracellular calcium in vestibular supporting cells. Naturally occurring mutations in the orthologous mouse gene are associated with nonsyndromic otoconia agenesis and a consequent balance defect. The orthologous mouse gene is also induced in white adipose tissue during obesity. The encoded protein is a component of a counterinflammatory pathway that attenuates obesity-induced adipose tissue inflammation and plays an adaptive role in maintaining metabolic homeostasis in obesity. [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. ##Evidence-Data-START## Transcript exon combination :: BC130432.1, BK000653.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000296358.5/ ENSP00000296358.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..612 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4p16.3" Protein 1..612 /product="proton channel OTOP1" /calculated_mol_wt=67223 Site 67..87 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7RTM1.1)" Site 92..112 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7RTM1.1)" Region 133..598 /region_name="Otopetrin" /note="Otopetrin; pfam03189" /db_xref="CDD:281218" Site 137..157 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7RTM1.1)" Site 168..188 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7RTM1.1)" Site 201..221 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7RTM1.1)" Site 269..289 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7RTM1.1)" Site 311..331 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7RTM1.1)" Site 346..366 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7RTM1.1)" Site 393..413 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7RTM1.1)" Site 424..444 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7RTM1.1)" Site 545..565 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7RTM1.1)" Site 576..596 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7RTM1.1)" CDS 1..612 /gene="OTOP1" /coded_by="NM_177998.3:66..1904" /db_xref="CCDS:CCDS3372.1" /db_xref="GeneID:133060" /db_xref="HGNC:HGNC:19656" /db_xref="MIM:607806" ORIGIN 1 mleglgspas praaasasva gssgpaacsp psssaprspe spaprrggvr asvpqklaem 61 lssqyglivf vaglllllaw avhaagvsks dllcfltalm llqllwmlwy vgrssahrrl 121 frlkdthaga gwlrgsitlf avitvilgcl kigyfigfse clsategvfp vthsvhtllq 181 vyflwghakd iiqsfktler fgvihsvftn lllwangvln eskhqlnehk erlitlgfgn 241 ittvlddhtp qcnctpptlc taishgiyyl ypfnieyqil astmlyvlwk nigrkvdshq 301 hqkmqfksdg vmvgavlglt vlaatiavvv vylihigrsk tksesalimf ylyaitllml 361 mgaaglagir iyrideksld esknparkld sdllvgtasg swliswgsil ailcaeghpr 421 ytwynlpysi laivekyiqn lfifesihre peklsediqt lrvvtvcngn tmplasscpk 481 sggvardvap qgkdmppaan gnvcmreshd keeekqeess wggspspvrl prflqgnakr 541 kvlrniaafl flcnislwip pafgcrpeyd ngleeivfgf epwiivvnla mpfsifyrmh 601 aaaslfevyc ki // LOCUS NP_690868 790 aa linear PRI 01-SEP-2020 DEFINITION cytospin-B isoform 3 [Homo sapiens]. ACCESSION NP_690868 XP_005256915 VERSION NP_690868.3 DBSOURCE REFSEQ: accession NM_152904.4 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 790) 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 790) AUTHORS D'Agostino L and Giordano A. TITLE A novel dual signaling axis for NSP 5a3a induced apoptosis in head and neck carcinoma JOURNAL Oncotarget 2 (12), 1055-1074 (2011) PUBMED 22170762 REMARK GeneRIF: NSP 5a3a induces apoptosis in Head and Neck cell line HN30 through p73-DAXX and TRAF2-TRADD. REFERENCE 3 (residues 1 to 790) AUTHORS Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW Jr, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP and Maas RL. TITLE Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting JOURNAL Am. J. Hum. Genet. 89 (1), 44-55 (2011) PUBMED 21703590 REFERENCE 4 (residues 1 to 790) AUTHORS D'agostino L and Giordano A. TITLE NSP 5a3a: a potential novel cancer target in head and neck carcinoma JOURNAL Oncotarget 1 (6), 423-435 (2010) PUBMED 21311098 REMARK GeneRIF: Loss of NSP 5a3a is associated with head and neck carcinoma. REFERENCE 5 (residues 1 to 790) AUTHORS D'Agostino L, Caracciolo V and Giordano A. TITLE NSP 5a3a's link to nuclear-cyto proteins B23 and hnRNP-L between normal and aberrant breast cell lines JOURNAL Cell Cycle 9 (6), 1131-1142 (2010) PUBMED 20237420 REMARK GeneRIF: NSP 5a3a's novel interaction with B23 and ribonuclear protein hnRNP-L implicates NSP 5a3a in cellular processes such as ribosome biogenesis and rRNA transcription . REFERENCE 6 (residues 1 to 790) AUTHORS D'Agostino L and Giordano A. TITLE Possible functional role of NSPs in cancer JOURNAL Cell Cycle 7 (12), 1810-1827 (2008) PUBMED 18763323 REFERENCE 7 (residues 1 to 790) 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 790) AUTHORS Sang N, Fath DM and Giordano A. TITLE A gene highly expressed in tumor cells encodes novel structure proteins JOURNAL Oncogene 23 (58), 9438-9446 (2004) PUBMED 15602574 REFERENCE 9 (residues 1 to 790) AUTHORS Morerio C, Acquila M, Rosanda C, Rapella A, Dufour C, Locatelli F, Maserati E, Pasquali F and Panarello C. TITLE HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2) JOURNAL Cancer Res. 64 (8), 2649-2651 (2004) PUBMED 15087372 REMARK GeneRIF: PCR and fluoresecne in situ hybridization shows that HCMOGT-1 is a novel fusion partner to PDGFRB in juvenile myelomonocytic leukemia with t(5;17)(q33;p11.2). COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AY816328.1, AK295093.1, AK304186.1, BP309862.1, BC033618.1, CN361555.1, AC004702.2, BC037532.1 and AI950511.1. On or before Aug 31, 2013 this sequence version replaced XP_005256915.1, NP_690868.2. Summary: The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]. Transcript Variant: This variant (3) contains an alternate 3' terminal exon compared to variant 1. This results in a shorter isoform (3, also known as NSP5beta3alpha) with a distinct C-terminus compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: AY816328.1, AB041533.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..790 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17p11.2" Protein 1..790 /product="cytospin-B isoform 3" /note="NSP5; sperm antigen HCMOGT-1; structure protein NSP5a3a; structure protein NSP5a3b; structure protein NSP5b3a; structure protein NSP5b3b; cytokinesis and spindle organization B; sperm antigen with calponin-like and coiled coil domains 1; nuclear structure protein 5; cytospin-B" /calculated_mol_wt=87757 Site 38 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q5SXY1; propagated from UniProtKB/Swiss-Prot (Q5M775.1)" Site 55 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q5M775.1)" Site 78 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q5M775.1)" Site 112 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q5M775.1)" Site 131 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q5M775.1)" Site 134 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q5M775.1)" Site 137 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q5SXY1; propagated from UniProtKB/Swiss-Prot (Q5M775.1)" Site 138 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:18669648; propagated from UniProtKB/Swiss-Prot (Q5M775.1)" Site 142 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000244|PubMed:18669648; propagated from UniProtKB/Swiss-Prot (Q5M775.1)" Site 218 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q5M775.1)" Site 241 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q5M775.1)" Site 361 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q5SXY1; propagated from UniProtKB/Swiss-Prot (Q5M775.1)" Site 366 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q5SXY1; propagated from UniProtKB/Swiss-Prot (Q5M775.1)" Site 369 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q5SXY1; propagated from UniProtKB/Swiss-Prot (Q5M775.1)" Site 425 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q5M775.1)" Region 636..731 /region_name="Prefoldin" /note="Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits...; cl09111" /db_xref="CDD:298833" CDS 1..790 /gene="SPECC1" /gene_synonym="CYTSB; HCMOGT-1; HCMOGT1; NSP" /coded_by="NM_152904.4:52..2424" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS42280.1" /db_xref="GeneID:92521" /db_xref="HGNC:HGNC:30615" /db_xref="MIM:608793" ORIGIN 1 mrsaakpwnp airagghgpd rvrplpaass gmksskssts lafesrlsrl krassedtln 61 kpgstaasgv vrlkktatag aiseltesrl rsgtgafttt krtgipapre fsvtvsrers 121 vprgpsnprk svssptssnt ptptkhlrtp stkpkqeneg gekaalesqv rellaeakak 181 dseinrlrse lkkykekrtl naegtdalgp nvdgtsvspg dtepmirale eknknfqkel 241 sdleeenrvl kekliylehs pnsegaasht gdsscptsit qessfgsptg nqmssdidey 301 kknihgnalr tsgssssdvt kaslspdasd fehitaetps rplsstsnpf ksskcstags 361 spnsvselsl asltekiqkm eenhhstaee lqatlqelsd qqqmvqelta eneklvdekt 421 iletsfhqhr eraeqlsqen eklmnllqer vkneepttqe gkiieleqkc tgileqgrfe 481 rekllniqqq ltcslrkvee enqgalemik rlkeenekln eflelerhnn nmmaktleec 541 rvtleglkme ngslkshlqg ekqkateasa veqtaescev qemlkvarae kdllelscne 601 lrqellkang eikhvsslla kvekdysylk eicdhqaeql srtslklqek asesdaeikd 661 mketifeled qveqhravkl hnnqlisele ssvikleeqk sdlerqlktl tkqmkeetee 721 wrrfqadlqt avvvandikc eaqqelrtvk rklleeeekn arlqkelgdv qghgrvvtsr 781 aappslgsvs // LOCUS NP_001091073 81 aa linear PRI 01-SEP-2020 DEFINITION X antigen family member 1 isoform a [Homo sapiens]. ACCESSION NP_001091073 XP_001125834 XP_001125856 XP_001125872 VERSION NP_001091073.2 DBSOURCE REFSEQ: accession NM_001097604.2 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 81) AUTHORS Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG, Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF, Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC, Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A, Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG, Colabella C, Coppin G, D'Amata C, De Ridder D, De Rouck S, Duran-Frigola M, Ennajdaoui H, Goebels F, Goehring L, Gopal A, Haddad G, Hatchi E, Helmy M, Jacob Y, Kassa Y, Landini S, Li R, van Lieshout N, MacWilliams A, Markey D, Paulson JN, Rangarajan S, Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V, Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X, Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S, Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth 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 81) AUTHORS Mori M, Funakoshi T, Kameyama K, Kawakami Y, Sato E, Nakayama E, Amagai M and Tanese K. TITLE Lack of XAGE-1b and NY-ESO-1 in metastatic lymph nodes may predict the potential survival of stage III melanoma patients JOURNAL J. Dermatol. 44 (6), 671-680 (2017) PUBMED 28105694 REMARK GeneRIF: In 22 melanoma patients with stage III lymph node metastasis, overall survival was significantly higher in the XAGE-1b and NY-ESO-1 double-negative group than in the other groups. REFERENCE 3 (residues 1 to 81) AUTHORS Ohue Y, Kurose K, Nozawa R, Isobe M, Nishio Y, Tanaka T, Doki Y, Hori T, Fukuoka J, Oka M and Nakayama E. TITLE Survival of Lung Adenocarcinoma Patients Predicted from Expression of PD-L1, Galectin-9, and XAGE1 (GAGED2a) on Tumor Cells and Tumor-Infiltrating T Cells JOURNAL Cancer Immunol Res 4 (12), 1049-1060 (2016) PUBMED 27799141 REMARK GeneRIF: We investigated tumor-infiltrating CD4 and CD8 T cells and the expression of PD-L1, Galectin-9, and XAGE1 in stage I to IIIA lung adenocarcinomas using a tissue microarray to deduce their contribution to overall survival, and our data showed that PD-L1 expression was a positive indicator, whereas Galectin-9 and XAGE1 expression was negative. REFERENCE 4 (residues 1 to 81) AUTHORS Sato S, Noguchi Y, Ohara N, Uenaka A, Shimono M, Nakagawa K, Koizumi F, Ishida T, Yoshino T, Shiratori Y and Nakayama E. TITLE Identification of XAGE-1 isoforms: predominant expression of XAGE-1b in testis and tumors JOURNAL Cancer Immun. 7, 5 (2007) PUBMED 17335148 REMARK GeneRIF: XAGE-1b is a promising target molecule for a cancer vaccine against lung cancer. Publication Status: Online-Only REFERENCE 5 (residues 1 to 81) AUTHORS Nakagawa K, Noguchi Y, Uenaka A, Sato S, Okumura H, Tanaka M, Shimono M, Ali Eldib AM, Ono T, Ohara N, Yoshino T, Yamashita K, Tsunoda T, Aoe M, Shimizu N and Nakayama E. TITLE XAGE-1 expression in non-small cell lung cancer and antibody response in patients JOURNAL Clin. Cancer Res. 11 (15), 5496-5503 (2005) PUBMED 16061866 REMARK GeneRIF: XAGE-1b is highly and strongly expressed in lung adenocarcinoma and immunogenic in patients REFERENCE 6 (residues 1 to 81) AUTHORS Zendman AJ, Van Kraats AA, Weidle UH, Ruiter DJ and Van Muijen GN. TITLE The XAGE family of cancer/testis-associated genes: alignment and expression profile in normal tissues, melanoma lesions and Ewing's sarcoma JOURNAL Int. J. Cancer 99 (3), 361-369 (2002) PUBMED 11992404 REMARK GeneRIF: The XAGE family of cancer/testis-associated genes: alignment and expression profile in normal tissues, melanoma lesions and Ewing's sarcoma REFERENCE 7 (residues 1 to 81) AUTHORS Egland KA, Kumar V, Duray P and Pastan I. TITLE Characterization of overlapping XAGE-1 transcripts encoding a cancer testis antigen expressed in lung, breast, and other types of cancers JOURNAL Mol. Cancer Ther. 1 (7), 441-450 (2002) PUBMED 12479262 REMARK GeneRIF: transcription of the XAGE-1 gene is initiated from two distinct start sites, resulting in two overlapping transcripts, XAGE-1a and XAGE-1b; XAGE-1 is expressed in a diverse range of cancers REFERENCE 8 (residues 1 to 81) AUTHORS Zendman AJ, van Kraats AA, den Hollander AI, Weidle UH, Ruiter DJ and van Muijen GN. TITLE Characterization of XAGE-1b, a short major transcript of cancer/testis-associated gene XAGE-1, induced in melanoma metastasis JOURNAL Int. J. Cancer 97 (2), 195-204 (2002) PUBMED 11774264 REFERENCE 9 (residues 1 to 81) AUTHORS Liu XF, Helman LJ, Yeung C, Bera TK, Lee B and Pastan I. TITLE XAGE-1, a new gene that is frequently expressed in Ewing's sarcoma JOURNAL Cancer Res. 60 (17), 4752-4755 (2000) PUBMED 10987281 REFERENCE 10 (residues 1 to 81) AUTHORS Brinkmann U, Vasmatzis G, Lee B and Pastan I. TITLE Novel genes in the PAGE and GAGE family of tumor antigens found by homology walking in the dbEST database JOURNAL Cancer Res. 59 (7), 1445-1448 (1999) PUBMED 10197611 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BX510359.5. This sequence is a reference standard in the RefSeqGene project. On Jan 20, 2010 this sequence version replaced NP_001091073.1. Summary: This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. This gene is strongly expressed in Ewing's sarcoma, alveolar rhabdomyosarcoma and normal testis. The protein encoded by this gene contains a nuclear localization signal and shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. Alternative splicing of this gene, in addition to alternative transcription start sites, results in multiple transcript variants. [provided by RefSeq, Jan 2010]. Transcript Variant: This variant (a, also known as XAGE-1a) encodes the longer isoform (a, also known as isoform XAGE-1b). This variant also includes a major downstream transcription start site, which results in the variant referred to as XAGE-1b in the literature. Both XAGE-1a and XAGE-1b encode the same isoform. This RefSeq contains an in-frame start site 65 codons upstream from the currently annotated site but is not being annotated as a start site since it is in a weak Kozak sequence context and experimental evidence indicates that the downstream AUG is used. (PMID: 12479262 and PMID: 17335148). Sequence Note: The RefSeq transcript and protein were derived 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. ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: experimental evidence (PMID:12479262) RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..81 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xp11.22" Protein 1..81 /product="X antigen family member 1 isoform a" /note="G antigen family D member 2; cancer/testis antigen family 12, member 1e; cancer/testis associated protein; protein XAGE-1; cancer/testis antigen 12.1; X antigen family member 1E; X antigen family, member 1C; cancer/testis antigen family 12, member 1c; X antigen family, member 1D; cancer/testis antigen family 12, member 1d; cancer/testis antigen family 12, member 1b" /calculated_mol_wt=8947 Region <55..75 /region_name="GAGE" /note="GAGE protein; pfam05831" /db_xref="CDD:310430" CDS 1..81 /gene="XAGE1B" /gene_synonym="CT12.1; CT12.1b; CT12.1C; CT12.1D; CT12.1E; CTP9; GAGED2; XAGE-1; XAGE1; XAGE1C; XAGE1D; XAGE1E" /coded_by="NM_001097604.2:289..534" /note="isoform a is encoded by transcript variant a" /db_xref="CCDS:CCDS48126.2" /db_xref="GeneID:653067" /db_xref="HGNC:HGNC:25400" /db_xref="MIM:300289" /db_xref="MIM:300744" /db_xref="MIM:300745" ORIGIN 1 mespkkknqq lkvgilhlgs rqkkiriqlr sqcatwkvic kscisqtpgi nldlgsgvkv 61 kiipkeehck mpeageeqpq v // LOCUS NP_001160164 193 aa linear PRI 01-SEP-2020 DEFINITION uncharacterized protein C11orf91 [Homo sapiens]. ACCESSION NP_001160164 XP_001717052 XP_001717259 XP_001717768 VERSION NP_001160164.1 DBSOURCE REFSEQ: accession NM_001166692.1 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 193) AUTHORS Venter JC, Adams MD, Myers EW, Li PW, Mural RJ, Sutton GG, Smith HO, Yandell M, Evans CA, Holt RA, Gocayne JD, Amanatides P, Ballew RM, Huson DH, Wortman JR, Zhang Q, Kodira CD, Zheng XH, Chen L, Skupski M, Subramanian G, Thomas PD, Zhang J, Gabor Miklos GL, Nelson C, Broder S, Clark AG, Nadeau J, McKusick VA, Zinder N, Levine AJ, Roberts RJ, Simon M, Slayman C, Hunkapiller M, Bolanos R, Delcher A, Dew I, Fasulo D, Flanigan M, Florea L, Halpern A, Hannenhalli S, Kravitz S, Levy S, Mobarry C, Reinert K, Remington K, Abu-Threideh J, Beasley E, Biddick K, Bonazzi V, Brandon R, Cargill M, Chandramouliswaran I, Charlab R, Chaturvedi K, Deng Z, Di Francesco V, Dunn P, Eilbeck K, Evangelista C, Gabrielian AE, Gan W, Ge W, Gong F, Gu Z, Guan P, Heiman TJ, Higgins ME, Ji RR, Ke Z, Ketchum KA, Lai Z, Lei Y, Li Z, Li J, Liang Y, Lin X, Lu F, Merkulov GV, Milshina N, Moore HM, Naik AK, Narayan VA, Neelam B, Nusskern D, Rusch DB, Salzberg S, Shao W, Shue B, Sun J, Wang Z, Wang A, Wang X, Wang J, Wei M, Wides R, Xiao C, Yan C, Yao A, Ye J, Zhan M, Zhang W, Zhang H, Zhao Q, Zheng L, Zhong F, Zhong W, Zhu S, Zhao S, Gilbert D, Baumhueter S, Spier G, Carter C, Cravchik A, Woodage T, Ali F, An H, Awe A, Baldwin D, Baden H, Barnstead M, Barrow I, Beeson K, Busam D, Carver A, Center A, Cheng ML, Curry L, Danaher S, Davenport L, Desilets R, Dietz S, Dodson K, Doup L, Ferriera S, Garg N, Gluecksmann A, Hart B, Haynes J, Haynes C, Heiner C, Hladun S, Hostin D, Houck J, Howland T, Ibegwam C, Johnson J, Kalush F, Kline L, Koduru S, Love A, Mann F, May D, McCawley S, McIntosh T, McMullen I, Moy M, Moy L, Murphy B, Nelson K, Pfannkoch C, Pratts E, Puri V, Qureshi H, Reardon M, Rodriguez R, Rogers YH, Romblad D, Ruhfel B, Scott R, Sitter C, Smallwood M, Stewart E, Strong R, Suh E, Thomas R, Tint NN, Tse S, Vech C, Wang G, Wetter J, Williams S, Williams M, Windsor S, Winn-Deen E, Wolfe K, Zaveri J, Zaveri K, Abril JF, Guigo R, Campbell MJ, Sjolander KV, Karlak B, Kejariwal A, Mi H, Lazareva B, Hatton T, Narechania A, Diemer K, Muruganujan A, Guo N, Sato S, Bafna V, Istrail S, Lippert R, Schwartz R, Walenz B, Yooseph S, Allen D, Basu A, Baxendale J, Blick L, Caminha M, Carnes-Stine J, Caulk P, Chiang YH, Coyne M, Dahlke C, Mays A, Dombroski M, Donnelly M, Ely D, Esparham S, Fosler C, Gire H, Glanowski S, Glasser K, Glodek A, Gorokhov M, Graham K, Gropman B, Harris M, Heil J, Henderson S, Hoover J, Jennings D, Jordan C, Jordan J, Kasha J, Kagan L, Kraft C, Levitsky A, Lewis M, Liu X, Lopez J, Ma D, Majoros W, McDaniel J, Murphy S, Newman M, Nguyen T, Nguyen N, Nodell M, Pan S, Peck J, Peterson M, Rowe W, Sanders R, Scott J, Simpson M, Smith T, Sprague A, Stockwell T, Turner R, Venter E, Wang M, Wen M, Wu D, Wu M, Xia A, Zandieh A and Zhu X. TITLE The sequence of the human genome JOURNAL Science 291 (5507), 1304-1351 (2001) PUBMED 11181995 REMARK Erratum:[Science 2001 Jun 5;292(5523):1838] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL049629.28. On or before Nov 5, 2009 this sequence version replaced XP_001717052.1, XP_001717259.1, XP_001717768.1. 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 :: AA868813.1, AB231760.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## 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="11p13" Protein 1..193 /product="uncharacterized protein C11orf91" /calculated_mol_wt=20416 CDS 1..193 /gene="C11orf91" /coded_by="NM_001166692.1:1..582" /db_xref="CCDS:CCDS53615.1" /db_xref="GeneID:100131378" /db_xref="HGNC:HGNC:34444" ORIGIN 1 mpkgrrgshs ptmsqrsapp lyfpslydrg isssplsdfn iwkklfvplk aggapvggaa 61 garslsqalp apappppppp glgpsserpw pspwpsglas ipyeplrffy spppgpevva 121 splvpcpstp rlasashpee lceleirike lelltitgdg fdsqsytflk alkdeklqgl 181 ktkqpgkksa sls // LOCUS NP_001002920 452 aa linear PRI 01-SEP-2020 DEFINITION POTE ankyrin domain family member A isoform 1 [Homo sapiens]. ACCESSION NP_001002920 XP_294480 VERSION NP_001002920.1 DBSOURCE REFSEQ: accession NM_001002920.1 KEYWORDS RefSeq. SOURCE Homo 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 Chen Z, Kapus A, Khatri I, Kos O, Zhu F and Gorczynski RM. TITLE Cell membrane-bound CD200 signals both via an extracellular domain and following nuclear translocation of a cytoplasmic fragment JOURNAL Leuk. Res. 69, 72-80 (2018) PUBMED 29698858 REFERENCE 2 (residues 1 to 452) AUTHORS Jiao X, Liu W, Mahdessian H, Bryant P, Ringdahl J, Timofeeva M, Farrington SM, Dunlop M and Lindblom A. TITLE Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population JOURNAL PLoS ONE 13 (3), e0193547 (2018) PUBMED 29547645 REMARK Publication Status: Online-Only REFERENCE 3 (residues 1 to 452) AUTHORS Hahn Y, Bera TK, Pastan IH and Lee B. TITLE Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains JOURNAL Gene 366 (2), 238-245 (2006) PUBMED 16364570 REFERENCE 4 (residues 1 to 452) AUTHORS Bera TK, Huynh N, Maeda H, Sathyanarayana BK, Lee B and Pastan I. TITLE Five POTE paralogs and their splice variants are expressed in human prostate and encode proteins of different lengths JOURNAL Gene 337, 45-53 (2004) PUBMED 15276201 REFERENCE 5 (residues 1 to 452) AUTHORS Bera TK, Zimonjic DB, Popescu NC, Sathyanarayana BK, Kumar V, Lee B and Pastan I. TITLE POTE, a highly homologous gene family located on numerous chromosomes and expressed in prostate, ovary, testis, placenta, and prostate cancer JOURNAL Proc. Natl. Acad. Sci. U.S.A. 99 (26), 16975-16980 (2002) PUBMED 12475935 REMARK Erratum:[Proc Natl Acad Sci U S A. 2003 Feb 4;100(3):1462] COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AY462870.1. On Aug 30, 2004 this sequence version replaced XP_294480.3. Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1). It should be noted that this variant may possibly undergo nonsense-mediated mRNA decay (NMD); this RefSeq is currently being retained because this gene is considered to be protein-coding in the literature, including PMID:15276201. ##Evidence-Data-START## Transcript exon combination :: AY462870.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148874, SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## NMD candidate :: translation inferred ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..452 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="8" /map="8p11.1" Protein 1..452 /product="POTE ankyrin domain family member A isoform 1" /note="protein expressed in prostate, ovary, testis, and placenta 8; ANKRD26-like family A, member 1; cancer/testis antigen family 104, member 3; prostate, ovary, testis-expressed protein on chromosome 8" /calculated_mol_wt=51147 Region 69..119 /region_name="Ank_4" /note="Ankyrin repeats (many copies); pfam13637" /db_xref="CDD:290365" Region 93..218 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 100..129 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 103..195 /region_name="Ank_2" /note="Ankyrin repeats (3 copies); pfam12796" /db_xref="CDD:289560" Site order(133,137..138,141..143,145..146,150,153,162,164,166, 170..171,174..176,178..179,183,186,195,197,199,203..204, 207..209,211..212,216,219,228) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 133..162 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 164..195 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 197..228 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" CDS 1..452 /gene="POTEA" /gene_synonym="A26A1; CT104.3; POTE-8; POTE8" /coded_by="NM_001002920.1:44..1402" /note="isoform 1 is encoded by transcript variant 1" /db_xref="GeneID:340441" /db_xref="HGNC:HGNC:33893" /db_xref="MIM:608915" ORIGIN 1 mvaevspkla aspmkkpfgf rgkmgkwccc cfpccrgsgk nnmgawrdhd dsaftepryh 61 vrredlgklh raawwgevpr adlivmlrgp ginkrdkkkr talhlacang nsevvsllld 121 rqcqlhvfds kkrtalikav qcqedecalm llqhgtdpnl pdmygntalh yavynedklm 181 aktlllygad iesknkgglt plllavhgqk qrmvkflikk kanlnaldrf gricqllsdy 241 kenqmpnnss gnsnpeqdlk ltseeepqrl kgsensqhek vtqepdinkd cdreveeemq 301 khgsnnvgls enltdgaaag ngdgglvpqr ksrkhenqqf pnteieeyhr pekksneknk 361 vksqihsvdn ldditwpsei asedydllfs nyetftllie qlkmdfndsa slskiqdavi 421 seehllelkn shyeqltvev eqmenmvhvl qk // LOCUS NP_001180449 806 aa linear PRI 01-SEP-2020 DEFINITION rasGAP-activating-like protein 1 isoform 1 [Homo sapiens]. ACCESSION NP_001180449 VERSION NP_001180449.1 DBSOURCE REFSEQ: accession NM_001193520.1 KEYWORDS RefSeq. SOURCE Homo 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 Cuellar J, Valpuesta JM, Wittinghofer A and Sot B. TITLE Domain topology of human Rasal JOURNAL Biol. Chem. 399 (1), 63-72 (2017) PUBMED 28885980 REMARK GeneRIF: Domain topology of human Rasal REFERENCE 2 (residues 1 to 806) AUTHORS Knief J, Reddemann K, Lazar-Karsten P, Herhahn T, Petrova E, Wellner U and Thorns C. TITLE Prognostic implications of RASAL1 expression in oesophagogastric adenocarcinoma JOURNAL J. Clin. Pathol. 70 (3), 274-276 (2017) PUBMED 28011578 REMARK GeneRIF: our study showed significantly longer overall survival times for oesophagogastric adenocarcinoma patients without RASAL1 expression REFERENCE 3 (residues 1 to 806) AUTHORS Jin W, Chen L, Cai X, Zhang Y, Zhang J, Ma D, Cai X, Fu T, Yu Z, Yu F and Chen G. TITLE Long non-coding RNA TUC338 is functionally involved in sorafenib-sensitized hepatocarcinoma cells by targeting RASAL1 JOURNAL Oncol. Rep. 37 (1), 273-280 (2017) PUBMED 27878301 REMARK GeneRIF: RASAL1 role in in sorafenib-resistance of liver cancer cells REFERENCE 4 (residues 1 to 806) AUTHORS McDonnell F, Irnaten M, Clark AF, O'Brien CJ and Wallace DM. TITLE Hypoxia-Induced Changes in DNA Methylation Alter RASAL1 and TGFbeta1 Expression in Human Trabecular Meshwork Cells JOURNAL PLoS ONE 11 (4), e0153354 (2016) PUBMED 27124111 REMARK GeneRIF: DNA methylation, TGFbeta1 and RASAL1 appear to have an interacting relationship. Publication Status: Online-Only REFERENCE 5 (residues 1 to 806) AUTHORS Xu X, Tan X, Hulshoff MS, Wilhelmi T, Zeisberg M and Zeisberg EM. TITLE Hypoxia-induced endothelial-mesenchymal transition is associated with RASAL1 promoter hypermethylation in human coronary endothelial cells JOURNAL FEBS Lett. 590 (8), 1222-1233 (2016) PUBMED 27012941 REMARK GeneRIF: HIF1alpha and transforming growth factor (TGF)/SMAD signalling pathways synergistically regulate hypoxia-induced endothelial-to-mesenchymal transition through both DNMT3a-mediated hypermethylation of RASAL1 promoter and direct SNAIL induction. REFERENCE 6 (residues 1 to 806) AUTHORS Ohta M, Seto M, Ijichi H, Miyabayashi K, Kudo Y, Mohri D, Asaoka Y, Tada M, Tanaka Y, Ikenoue T, Kanai F, Kawabe T and Omata M. TITLE Decreased expression of the RAS-GTPase activating protein RASAL1 is associated with colorectal tumor progression JOURNAL Gastroenterology 136 (1), 206-216 (2009) PUBMED 18992247 REMARK GeneRIF: Decreased expression of the RAS-GTPase activating protein RASAL1 is associated with colorectal tumor progression. REFERENCE 7 (residues 1 to 806) AUTHORS Jin H, Wang X, Ying J, Wong AH, Cui Y, Srivastava G, Shen ZY, Li EM, Zhang Q, Jin J, Kupzig S, Chan AT, Cullen PJ and Tao Q. TITLE Epigenetic silencing of a Ca(2+)-regulated Ras GTPase-activating protein RASAL defines a new mechanism of Ras activation in human cancers JOURNAL Proc. Natl. Acad. Sci. U.S.A. 104 (30), 12353-12358 (2007) PUBMED 17640920 REMARK GeneRIF: RASAL constitutes a tumor suppressor gene and therefore further emphasized the importance of Ca(2+) in the regulation of Ras signaling and has established that deregulation of this pathway is an important step in Ras-mediated tumorigenesis REFERENCE 8 (residues 1 to 806) AUTHORS Liu Q, Walker SA, Gao D, Taylor JA, Dai YF, Arkell RS, Bootman MD, Roderick HL, Cullen PJ and Lockyer PJ. TITLE CAPRI and RASAL impose different modes of information processing on Ras due to contrasting temporal filtering of Ca2+ JOURNAL J. Cell Biol. 170 (2), 183-190 (2005) PUBMED 16009725 REMARK GeneRIF: RASAL preservs of Ca2+ frequency information REFERENCE 9 (residues 1 to 806) AUTHORS Schmitt JM and Stork PJ. TITLE Galpha and Gbeta gamma require distinct Src-dependent pathways to activate Rap1 and Ras JOURNAL J. Biol. Chem. 277 (45), 43024-43032 (2002) PUBMED 12221082 REMARK GeneRIF: Galpha and Gbeta gamma require distinct Src-dependent pathways for its activation REFERENCE 10 (residues 1 to 806) AUTHORS Allen M, Chu S, Brill S, Stotler C and Buckler A. TITLE Restricted tissue expression pattern of a novel human rasGAP-related gene and its murine ortholog JOURNAL Gene 218 (1-2), 17-25 (1998) PUBMED 9751798 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC089999.20 and AB208935.1. This sequence is a reference standard in the RefSeqGene project. Summary: The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010]. 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 :: AB208935.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..806 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q24.13" Protein 1..806 /product="rasGAP-activating-like protein 1 isoform 1" /note="GAP1 like protein; rasGAP-activating-like protein 1; ras GTPase-activating-like protein" /calculated_mol_wt=90143 Region 6..126 /region_name="C2" /note="C2 domain; cl14603" /db_xref="CDD:301316" Region 134..255 /region_name="C2" /note="C2 domain; cl14603" /db_xref="CDD:301316" Region 243..606 /region_name="RasGAP" /note="GTPase-activator protein for Ras-like GTPases; smart00323" /db_xref="CDD:214617" 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:302622" Region 568..674 /region_name="PH" /note="PH domain; pfam00169" /db_xref="CDD:278594" Region 683..710 /region_name="BTK" /note="BTK motif; pfam00779" /db_xref="CDD:279161" CDS 1..806 /gene="RASAL1" /gene_synonym="RASAL" /coded_by="NM_001193520.1:302..2722" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS55889.1" /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 NP_002208 890 aa linear PRI 01-SEP-2020 DEFINITION inter-alpha-trypsin inhibitor heavy chain H3 preproprotein [Homo sapiens]. ACCESSION NP_002208 VERSION NP_002208.3 DBSOURCE REFSEQ: accession NM_002217.3 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 890) AUTHORS Miyake Y, Tanaka K and Arakawa M. TITLE ITIH3 and ITIH4 polymorphisms and depressive symptoms during pregnancy in Japan: the Kyushu Okinawa Maternal and Child Health Study JOURNAL J Neural Transm (Vienna) 125 (10), 1503-1509 (2018) PUBMED 29992445 REMARK GeneRIF: ITIH3 SNPs rs2535629 and rs736408 were studied in pregnant depressed Japanese women. Neither was related to depressive symptoms during pregnancy.The GCCT haplotype of rs2535629, rs736408, rs3821831, and rs2239547 was significantly positively associated with depressive symptoms during pregnancy. REFERENCE 2 (residues 1 to 890) AUTHORS Brandl EJ, Lett TA, Chowdhury NI, Tiwari AK, Bakanidze G, Meltzer HY, Potkin SG, Lieberman JA, Kennedy JL and Muller DJ. TITLE The role of the ITIH3 rs2535629 variant in antipsychotic response JOURNAL Schizophr. Res. 176 (2-3), 131-135 (2016) PUBMED 27396837 REMARK GeneRIF: ITIH3 rs2535629 SNP was genotyped in N=256 patients receiving various antipsychotics for up to 26weeks. Study found no association of genotype with overall changes in Brief Psychiatric Rating Scale scores, but greater improvement of negative symptoms in minor allele carriers indicates that rs2535629 may help to identify a subset of schizophrenia patients with better treatment response to clozapine. REFERENCE 3 (residues 1 to 890) AUTHORS Li Z, Xiang Y, Chen J, Li Q, Shen J, Liu Y, Li W, Xing Q, Wang Q, Wang L, Feng G, He L, Zhao X and Shi Y. TITLE Loci with genome-wide associations with schizophrenia in the Han Chinese population JOURNAL Br J Psychiatry 207 (6), 490-494 (2015) PUBMED 26206863 REMARK GeneRIF: confirmed the association of schizophrenia with ITIH3/4 in a Han Chinese population REFERENCE 4 (residues 1 to 890) AUTHORS Lotan A, Fenckova M, Bralten J, Alttoa A, Dixson L, Williams RW and van der Voet M. TITLE Neuroinformatic analyses of common and distinct genetic components associated with major neuropsychiatric disorders JOURNAL Front Neurosci 8, 331 (2014) PUBMED 25414627 REMARK Publication Status: Online-Only REFERENCE 5 (residues 1 to 890) AUTHORS Finseth PI, Sonderby IE, Djurovic S, Agartz I, Malt UF, Melle I, Morken G, Andreassen OA, Vaaler AE and Tesli M. TITLE Association analysis between suicidal behaviour and candidate genes of bipolar disorder and schizophrenia JOURNAL J Affect Disord 163, 110-114 (2014) PUBMED 24461634 REMARK GeneRIF: A novel association between suicide attempt and the ITIH3/4-region in a combined group of patients with bipolar disorder, schizophrenia and related psychosis spectrum disorders. REFERENCE 6 (residues 1 to 890) AUTHORS Salier JP, Simon D, Rouet P, Raguenez G, Muscatelli F, Gebhard W, Guenet JL and Mattei MG. TITLE Homologous chromosomal locations of the four genes for inter-alpha-inhibitor and pre-alpha-inhibitor family in human and mouse: assignment of the ancestral gene for the lipocalin superfamily JOURNAL Genomics 14 (1), 83-88 (1992) PUBMED 1385302 REFERENCE 7 (residues 1 to 890) AUTHORS Enghild JJ, Salvesen G, Hefta SA, Thogersen IB, Rutherfurd S and Pizzo SV. TITLE Chondroitin 4-sulfate covalently cross-links the chains of the human blood protein pre-alpha-inhibitor JOURNAL J. Biol. Chem. 266 (2), 747-751 (1991) PUBMED 1898736 REFERENCE 8 (residues 1 to 890) AUTHORS Enghild JJ, Thogersen IB, Pizzo SV and Salvesen G. TITLE Analysis of inter-alpha-trypsin inhibitor and a novel trypsin inhibitor, pre-alpha-trypsin inhibitor, from human plasma. Polypeptide chain stoichiometry and assembly by glycan JOURNAL J. Biol. Chem. 264 (27), 15975-15981 (1989) PUBMED 2476436 REFERENCE 9 (residues 1 to 890) AUTHORS Diarra-Mehrpour M, Bourguignon J, Sesboue R, Mattei MG, Passage E, Salier JP and Martin JP. TITLE Human plasma inter-alpha-trypsin inhibitor is encoded by four genes on three chromosomes JOURNAL Eur. J. Biochem. 179 (1), 147-154 (1989) PUBMED 2465147 REFERENCE 10 (residues 1 to 890) AUTHORS Salier JP, Diarra-Mehrpour M, Sesboue R, Bourguignon J, Benarous R, Ohkubo I, Kurachi S, Kurachi K and Martin JP. TITLE Isolation and characterization of cDNAs encoding the heavy chain of human inter-alpha-trypsin inhibitor (I alpha TI): unambiguous evidence for multipolypeptide chain structure of I alpha TI JOURNAL Proc. Natl. Acad. Sci. U.S.A. 84 (23), 8272-8276 (1987) PUBMED 2446322 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA370870.1, BC107604.1 and AI683095.1. On Mar 22, 2007 this sequence version replaced NP_002208.2. Summary: This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [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 :: AK222757.1, X67055.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..890 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3p21.1" Protein 1..890 /product="inter-alpha-trypsin inhibitor heavy chain H3 preproprotein" /note="pre-alpha (globulin) inhibitor, H3 polypeptide; inter-alpha (globulin) inhibitor, H3 polypeptide; inter-alpha (globulin) inhibitor H3; inter-alpha-trypsin inhibitor heavy chain H3; ITI heavy chain H3; inter-alpha-inhibitor heavy chain 3; serum-derived hyaluronan-associated protein" /calculated_mol_wt=97703 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2165 Region 29..158 /region_name="VIT" /note="Vault protein Inter-alpha-Trypsin domain; smart00609" /db_xref="CDD:197803" mat_peptide 35..651 /product="Inter-alpha-trypsin inhibitor heavy chain H3. /id=PRO_0000016530" /note="propagated from UniProtKB/Swiss-Prot (Q06033.2)" /calculated_mol_wt=69360 Site 91 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:16335952; propagated from UniProtKB/Swiss-Prot (Q06033.2)" Region 281..462 /region_name="vWA_interalpha_trypsin_inhibitor" /note="vWA_interalpha trypsin inhibitor (ITI): ITI is a glycoprotein composed of three polypeptides- two heavy chains and one light chain (bikunin). Bikunin confers the protease-inhibitor function while the heavy chains are involved in rendering stability to...; cd01461" /db_xref="CDD:238738" Site order(290,292,294,360,395) /site_type="other" /note="metal ion-dependent adhesion site (MIDAS)" /db_xref="CDD:238738" Site 580 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:16335952; propagated from UniProtKB/Swiss-Prot (Q06033.2)" Region 684..871 /region_name="ITI_HC_C" /note="Inter-alpha-trypsin inhibitor heavy chain C-terminus; pfam06668" /db_xref="CDD:310930" CDS 1..890 /gene="ITIH3" /gene_synonym="H3P; ITI-HC3; SHAP" /coded_by="NM_002217.3:37..2709" /db_xref="CCDS:CCDS46845.1" /db_xref="GeneID:3699" /db_xref="HGNC:HGNC:6168" /db_xref="MIM:146650" ORIGIN 1 mafawwpcli lallsslaas gfprspfrll gkrslpegva ngievystki nskvtsrfah 61 nvvtmravnr adtakevsfd velpktafit nftltidgvt ypgnvkekev akkqyekavs 121 qgktaglvka sgrklekftv svnvaagskv tfeltyeell krhkgkyemy lkvqpkqlvk 181 hfeievdife pqgismldae asfitndllg saltksfsgk kghvsfkpsl dqqrscptct 241 dsllngdfti tydvnrespg nvqivngyfv hffapqglpv vpknvafvid isgsmagrkl 301 eqtkeallri ledmqeedyl nfilfsgdvs twkehlvqat penlqeartf vksmedkgmt 361 nindgllrgi smlnkareeh riperstsiv imltdgdanv gesrpekiqe nvrnaiggkf 421 plynlgfgnn lnynflenma lenhgfarri yedsdadlql qgfyeevanp lltgvemeyp 481 enaildltqn tyqhfydgse ivvagrlvde dmnsfkadvk ghgatndltf teevdmkeme 541 kalqerdyif gnyierlway ltieqllekr knahgeeken ltaraldlsl kyhfvtplts 601 mvvtkpedne deraiadkpg edaeatpvsp amsyltsyqp pqnpyyyvdg dphfiiqipe 661 kddalcfnid eapgtvlrli qdavtgltvn gqitgdkrgs pdsktrktyf gklgianaqm 721 dfqvevttek itlwnravps tfswldtvtv tqdglsmmin rknmvvsfgd gvtfvvvlhq 781 vwkkhpvhrd flgfyvvdsh rmsaqthgll gqffqpfdfk vsdirpgsdp tkpdatlvvk 841 nhqlivtrgs qkdyrkdasi gtkvvcwfvh nngeglidgv htdyivpnlf // LOCUS NP_001189478 158 aa linear PRI 01-SEP-2020 DEFINITION SYNJ2BP-COX16 protein isoform 3 [Homo sapiens]. ACCESSION NP_001189478 VERSION NP_001189478.1 DBSOURCE REFSEQ: accession NM_001202549.2 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 158) 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 AL356804.4 and FY213292.1. Summary: This locus represents naturally occurring read-through transcription between the neighboring SYNJ2BP (synaptojanin 2 binding protein) and COX16 (COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)) genes on chromosome 14. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2011]. Transcript Variant: This variant (3) lacks an in-frame exon in the 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 :: FY211853.1, FY213292.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2142670, SAMEA2467148 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## readthrough transcript :: includes exons from GeneID 51241, 55333 ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..158 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="14" /map="14q24.2" Protein 1..158 /product="SYNJ2BP-COX16 protein isoform 3" /calculated_mol_wt=17730 Region 13..97 /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..25,27,81..82,85..86) /site_type="other" /note="protein binding site [polypeptide binding]" /db_xref="CDD:238492" Region <98..140 /region_name="COX16" /note="Cytochrome c oxidase assembly protein COX16; pfam14138" /db_xref="CDD:290843" CDS 1..158 /gene="SYNJ2BP-COX16" /coded_by="NM_001202549.2:128..604" /note="isoform 3 is encoded by transcript variant 3" /db_xref="GeneID:100529257" /db_xref="HGNC:HGNC:48350" ORIGIN 1 mngrvdylvt eeeinltrgp sglgfnivgg tdqqyvsnds giyvsriken gaaaldgrlq 61 egdkilsvng qdlknllhqd avdlfrnagy avslrvqhrm dpelekklke nkisleseye 121 kikdskfddw knirgprpwe dpdllqgrnp eslktktt // LOCUS NP_443176 675 aa linear PRI 01-SEP-2020 DEFINITION sodium/myo-inositol cotransporter 2 isoform 1 [Homo sapiens]. ACCESSION NP_443176 VERSION NP_443176.2 DBSOURCE REFSEQ: accession NM_052944.4 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 675) 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 675) 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 675) 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 675) 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 5 (residues 1 to 675) 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 6 (residues 1 to 675) 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 AY044906.1, KC877600.1 and AA772233.1. On Dec 20, 2001 this sequence version replaced NP_443176.1. 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## Transcript exon combination :: AY044906.1, SRR1803614.12296.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2144835 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..675 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p12.1" Protein 1..675 /product="sodium/myo-inositol cotransporter 2 isoform 1" /note="putative sodium-coupled cotransporter RKST1; homolog of rabbit KST1; sodium/myo-inositol cotransporter 2; solute carrier family 5 (sodium/glucose cotransporter), member 11; 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=73906 Region 28..675 /region_name="SLC5sbd_SGLT6" /note="Na(+)/chiro-inositol cotransporter SGLT6 and related proteins; solute-binding domain; cd11490" /db_xref="CDD:271381" Site 28..48 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8WWX8.1)" Site 66..88 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8WWX8.1)" Site order(76,79,384,387..388) /site_type="other" /note="Na binding site [ion binding]" /db_xref="CDD:271381" Site 103..123 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8WWX8.1)" Site 136..156 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8WWX8.1)" Site 181..201 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8WWX8.1)" Site 209..229 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8WWX8.1)" Site 247 /site_type="other" /note="putative glycosylation site [posttranslational modification]" /db_xref="CDD:271381" Site 273..293 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8WWX8.1)" Site 309..329 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8WWX8.1)" Site 376..396 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8WWX8.1)" Site 419..439 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8WWX8.1)" Site 447..467 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8WWX8.1)" Site 480..500 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8WWX8.1)" Site 522..542 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8WWX8.1)" Site 655..675 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8WWX8.1)" CDS 1..675 /gene="SLC5A11" /gene_synonym="KST1; RKST1; SGLT6; SMIT2" /coded_by="NM_052944.4:233..2260" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS10625.1" /db_xref="GeneID:115584" /db_xref="HGNC:HGNC:23091" /db_xref="MIM:610238" ORIGIN 1 mesgtsspqp pqldpldafp qkglepgdia vlvlyflfvl avglwstvkt krdtvkgyfl 61 aggdmvwwpv gaslfasnvg sghfiglags gaatgisvsa yelnglfsvl mlawiflpiy 121 iagqvttmpe ylrkrfggir ipiilavlyl fiyiftkisv dmyagaifiq qslhldlyla 181 ivgllaitav ytvagglaav iytdalqtli mligaltlmg ysfaavggme glkekyflal 241 asnrsenssc glpredafhi frdpltsdlp wpgvlfgmsi pslwywctdq vivqrtlaak 301 nlshakggal maaylkvlpl fimvfpgmvs rilfpdqvac adpeicqkic snpsgcsdia 361 ypklvlellp tglrglmmav mvaalmsslt sifnsastif tmdlwnhlrp rasekelmiv 421 grvfvlllvl vsilwipvvq asqggqlfiy iqsissylqp pvavvfimgc fwkrtnekga 481 fwglisglll glvrlvldfi yvqprcdqpd erpvlvksih ylyfsmilst vtlitvstvs 541 wfteppskem vshltwftrh dpvvqkeqap paaplsltls qngmpeasss ssvqfemvqe 601 ntskthscdm tpkqskvvka ilwlcgiqek gkeelparae aiivsleenp lvktlldvnl 661 ifcvscaifi wgyfa // LOCUS NP_751891 401 aa linear PRI 01-SEP-2020 DEFINITION voltage-gated potassium channel subunit beta-1 isoform 3 [Homo sapiens]. ACCESSION NP_751891 VERSION NP_751891.1 DBSOURCE REFSEQ: accession NM_172159.3 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 401) AUTHORS Liao J, Su X, Chen P, Wang X, Xu L, Li X, Thean L, Tan C, Tan AG, Tay WT, Jun G, Zheng Y, Chew M, Wang YX, Tan QS, Barathi VA, Klein BE, Saw SM, Vithana EN, Tai ES, Iyengar SK, Mitchell P, Khor CC, Aung T, Wang JJ, Jonas JB, Teo YY, Wong TY and Cheng CY. TITLE Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract JOURNAL Hum. Mol. Genet. 23 (22), 6119-6128 (2014) PUBMED 24951543 REMARK GeneRIF: Genetic variations of KCNAB1 and CRYAA are associated with age-related nuclear cataract. REFERENCE 2 (residues 1 to 401) AUTHORS Macias A, de la Cruz A, Prieto A, Peraza DA, Tamkun MM, Gonzalez T and Valenzuela C. TITLE PKC inhibition results in a Kv 1.5 + Kv beta1.3 pharmacology closer to Kv 1.5 channels JOURNAL Br. J. Pharmacol. 171 (21), 4914-4926 (2014) PUBMED 24946104 REMARK GeneRIF: Protein kinase C inhibition results in a Kv 1.5 and Kv beta 1.3 pharmacology closer to Kv 1.5 channels REFERENCE 3 (residues 1 to 401) AUTHORS Busolin G, Malacrida S, Bisulli F, Striano P, Di Bonaventura C, Egeo G, Pasini E, Cianci V, Ferlazzo E, Bianchi A, Coppola G, Elia M, Mecarelli O, Gobbi G, Casellato S, Marchini M, Binelli S, Freri E, Granata T, Posar A, Parmeggiani A, Vigliano P, Boniver C, Aguglia U, Striano S, Tinuper P, Giallonardo AT, Michelucci R and Nobile C. TITLE Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy JOURNAL Epilepsy Res. 94 (1-2), 110-116 (2011) PUBMED 21333500 REMARK GeneRIF: These results support KCNAB1 as a susceptibility gene for lateral temporal epilepsy , in agreement with previous studies showing that this gene may alter susceptibility to focal epilepsy. REFERENCE 4 (residues 1 to 401) 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 5 (residues 1 to 401) AUTHORS Decher N, Gonzalez T, Streit AK, Sachse FB, Renigunta V, Soom M, Heinemann SH, Daut J and Sanguinetti MC. TITLE Structural determinants of Kvbeta1.3-induced channel inactivation: a hairpin modulated by PIP2 JOURNAL EMBO J. 27 (23), 3164-3174 (2008) PUBMED 18987637 REMARK GeneRIF: Double-mutant cycle analysis indicates that R5 of Kvbeta1.3 interacts with A501 and T480 of Kv1.5, residues located deep within the pore of the channel. REFERENCE 6 (residues 1 to 401) AUTHORS England SK, Uebele VN, Kodali J, Bennett PB and Tamkun MM. TITLE A novel K+ channel beta-subunit (hKv beta 1.3) is produced via alternative mRNA splicing JOURNAL J. Biol. Chem. 270 (48), 28531-28534 (1995) PUBMED 7499366 REFERENCE 7 (residues 1 to 401) AUTHORS McCormack K, McCormack T, Tanouye M, Rudy B and Stuhmer W. TITLE Alternative splicing of the human Shaker K+ channel beta 1 gene and functional expression of the beta 2 gene product JOURNAL FEBS Lett. 370 (1-2), 32-36 (1995) PUBMED 7649300 REFERENCE 8 (residues 1 to 401) AUTHORS England SK, Uebele VN, Shear H, Kodali J, Bennett PB and Tamkun MM. TITLE Characterization of a voltage-gated K+ channel beta subunit expressed in human heart JOURNAL Proc. Natl. Acad. Sci. U.S.A. 92 (14), 6309-6313 (1995) PUBMED 7603988 REFERENCE 9 (residues 1 to 401) AUTHORS Morales MJ, Castellino RC, Crews AL, Rasmusson RL and Strauss HC. TITLE A novel beta subunit increases rate of inactivation of specific voltage-gated potassium channel alpha subunits JOURNAL J. Biol. Chem. 270 (11), 6272-6277 (1995) PUBMED 7890764 REFERENCE 10 (residues 1 to 401) AUTHORS Majumder K, De Biasi M, Wang Z and Wible BA. TITLE Molecular cloning and functional expression of a novel potassium channel beta-subunit from human atrium JOURNAL FEBS Lett. 361 (1), 13-16 (1995) PUBMED 7890032 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA331209.1, AK057059.1, AC092927.5, BC043166.2 and AI344124.1. Summary: Potassium 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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]. Transcript Variant: This variant (3) has an alternate 5' sequence including the 5' UTR and the 5' coding region, as compared to variant 1. It encodes isoform 3, also known as kvb1.3, which has a shorter and distinct 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## Transcript exon combination :: SRR1803611.150268.1, SRR1803611.175091.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2144120 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..401 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q25.31" Protein 1..401 /product="voltage-gated potassium channel subunit beta-1 isoform 3" /note="potassium voltage-gated channel, shaker-related subfamily, beta member 1; potassium channel beta 3 chain; potassium channel beta3 subunit; potassium channel shaker chain beta 1a; K(+) channel subunit beta-1; potassium channel, voltage gated subfamily A regulatory beta subunit 1; K+ channel Beta1a chain" /calculated_mol_wt=44579 Region 71..393 /region_name="AKR_KCAB1B_AKR6A3-like" /note="voltage-gated potassium channel subunit beta-1 (KCAB1B) and similar proteins; cd19159" /db_xref="CDD:381385" Site order(89..91,97,119,124,152,192,222..223,248,277..282,286, 288,296..298,338,355..359,363,366..367) /site_type="active" /note="putative active site [active]" /db_xref="CDD:381385" Site order(119,124,152,192) /site_type="active" /note="catalytic tetrad [active]" /db_xref="CDD:381385" CDS 1..401 /gene="KCNAB1" /gene_synonym="AKR6A3; hKvb3; hKvBeta3; KCNA1B; KV-BETA-1; Kvb1.3" /coded_by="NM_172159.3:922..2127" /note="isoform 3 is encoded by transcript variant 3" /db_xref="CCDS:CCDS33882.1" /db_xref="GeneID:7881" /db_xref="HGNC:HGNC:6228" /db_xref="MIM:601141" ORIGIN 1 mqvsiacteh nlksrngedr llskqsstap nvvnaarakf rtvaiiarsl gtftpqhhis 61 lkestakqtg mkyrnlgksg lrvsclglgt wvtfggqisd evaerlmtia yesgvnlfdt 121 aevyaagkae vilgsiikkk gwrrsslvit tklywggkae terglsrkhi ieglkgslqr 181 lqleyvdvvf anrpdsntpm eeivramthv inqgmamywg tsrwsameim eaysvarqfn 241 mippvceqae yhlfqrekve vqlpelyhki gvgamtwspl acgiisgkyg ngvpessras 301 lkcyqwlker ivseegrkqq nklkdlspia erlgctlpql avawclrneg vssvllgsst 361 peqlienlga iqvlpkmtsh vvneidnilr nkpyskkdyr s // LOCUS NP_066024 469 aa linear PRI 01-SEP-2020 DEFINITION cytosolic beta-glucosidase isoform a [Homo sapiens]. ACCESSION NP_066024 VERSION NP_066024.1 DBSOURCE REFSEQ: accession NM_020973.4 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 469) AUTHORS Marques AR, Mirzaian M, Akiyama H, Wisse P, Ferraz MJ, Gaspar P, Ghauharali-van der Vlugt K, Meijer R, Giraldo P, Alfonso P, Irun P, Dahl M, Karlsson S, Pavlova EV, Cox TM, Scheij S, Verhoek M, Ottenhoff R, van Roomen CP, Pannu NS, van Eijk M, Dekker N, Boot RG, Overkleeft HS, Blommaart E, Hirabayashi Y and Aerts JM. TITLE Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular beta-glucosidases JOURNAL J. Lipid Res. 57 (3), 451-463 (2016) PUBMED 26724485 REFERENCE 2 (residues 1 to 469) AUTHORS Wang L, Seino J, Tomotake H, Funakoshi Y, Hirayama H and Suzuki T. TITLE Co-Expression of NEU2 and GBA3 Causes a Drastic Reduction in Cytosolic Sialyl Free N-glycans in Human MKN45 Stomach Cancer Cells-Evidence for the Physical Interaction of NEU2 and GBA3 JOURNAL Biomolecules 5 (3), 1499-1514 (2015) PUBMED 26193330 REMARK GeneRIF: cytosolic GBA3 is likely involved in the catabolism of cytosolic sialyl free N-glycans, possibly by stabilizing the activity of the NEU2 protein Publication Status: Online-Only REFERENCE 3 (residues 1 to 469) AUTHORS Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, Illmann C, McGrath LM, Mayerfeld C, Arepalli S, Barlassina C, Barr CL, Bellodi L, Benarroch F, Berrio GB, Bienvenu OJ, Black DW, Bloch MH, Brentani H, Bruun RD, Budman CL, Camarena B, Campbell DD, Cappi C, Silgado JC, Cavallini MC, Chavira DA, Chouinard S, Cook EH, Cookson MR, Coric V, Cullen B, Cusi D, Delorme R, Denys D, Dion Y, Eapen V, Egberts K, Falkai P, Fernandez T, Fournier E, Garrido H, Geller D, Gilbert DL, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grunblatt E, Hardy J, Heiman GA, Hemmings SM, Herrera LD, Hezel DM, Hoekstra PJ, Jankovic J, Kennedy JL, King RA, Konkashbaev AI, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Lupoli S, Macciardi F, Maier W, Manunta P, Marconi M, McCracken JT, Mesa Restrepo SC, Moessner R, Moorjani P, Morgan J, Muller H, Murphy DL, Naarden AL, Nurmi E, Ochoa WC, Ophoff RA, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner T, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosario MC, Rosenberg D, Ruhrmann S, Sabatti C, Salvi E, Sampaio AS, Samuels J, Sandor P, Service SK, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Turiel M, Valencia Duarte AV, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Weale M, Weiss R, Wendland JR, Westenberg HG, Shugart YY, Hounie AG, Miguel EC, Nicolini H, Wagner M, Ruiz-Linares A, Cath DC, McMahon W, Posthuma D, Oostra BA, Nestadt G, Rouleau GA, Purcell S, Jenike MA, Heutink P, Hanna GL, Conti DV, Arnold PD, Freimer NB, Stewart SE, Knowles JA, Cox NJ and Pauls DL. TITLE Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD JOURNAL Am J Psychiatry 172 (1), 82-93 (2015) PUBMED 25158072 REFERENCE 4 (residues 1 to 469) 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 5 (residues 1 to 469) AUTHORS Dekker N, Voorn-Brouwer T, Verhoek M, Wennekes T, Narayan RS, Speijer D, Hollak CE, Overkleeft HS, Boot RG and Aerts JM. TITLE The cytosolic beta-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation JOURNAL Blood Cells Mol. Dis. 46 (1), 19-26 (2011) PUBMED 20728381 REMARK GeneRIF: No correlation was observed between GBA3 1368A/T haplotypes and severity of type 1 Gaucher disease manifestation GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 6 (residues 1 to 469) AUTHORS Nemeth K, Plumb GW, Berrin JG, Juge N, Jacob R, Naim HY, Williamson G, Swallow DM and Kroon PA. TITLE Deglycosylation by small intestinal epithelial cell beta-glucosidases is a critical step in the absorption and metabolism of dietary flavonoid glycosides in humans JOURNAL Eur J Nutr 42 (1), 29-42 (2003) PUBMED 12594539 REFERENCE 7 (residues 1 to 469) AUTHORS Berrin JG, McLauchlan WR, Needs P, Williamson G, Puigserver A, Kroon PA and Juge N. TITLE Functional expression of human liver cytosolic beta-glucosidase in Pichia pastoris. Insights into its role in the metabolism of dietary glucosides JOURNAL Eur. J. Biochem. 269 (1), 249-258 (2002) PUBMED 11784319 REFERENCE 8 (residues 1 to 469) AUTHORS de Graaf M, van Veen IC, van der Meulen-Muileman IH, Gerritsen WR, Pinedo HM and Haisma HJ. TITLE Cloning and characterization of human liver cytosolic beta-glycosidase JOURNAL Biochem. J. 356 (Pt 3), 907-910 (2001) PUBMED 11389701 REFERENCE 9 (residues 1 to 469) AUTHORS Yahata K, Mori K, Arai H, Koide S, Ogawa Y, Mukoyama M, Sugawara A, Ozaki S, Tanaka I, Nabeshima Y and Nakao K. TITLE Molecular cloning and expression of a novel klotho-related protein JOURNAL J. Mol. Med. 78 (7), 389-394 (2000) PUBMED 11043382 REFERENCE 10 (residues 1 to 469) AUTHORS LaMarco,K.L. and Glew,R.H. TITLE Galactosylsphingosine inhibition of the broad-specificity cytosolic beta-glucosidase of human liver JOURNAL Arch. Biochem. Biophys. 236 (2), 669-676 (1985) PUBMED 3918500 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP383134.1, AF323990.1, CB163648.1, BC109377.1 and BC029362.1. Summary: The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013]. Transcript Variant: This variant (1, coding) represents the longest transcript and encodes isoform a. This variant is produced from the more frequently occurring functional allele of 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## Transcript exon combination :: AF323990.1, AK292746.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## polymorphic pseudogene :: PMID: 20728381 RefSeq Select criteria :: based on computational evidence ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..469 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4p15.2" Protein 1..469 /product="cytosolic beta-glucosidase isoform a" /EC_number="3.2.1.21" /note="glucosidase, beta, acid 3 (cytosolic); klotho-related protein; cytosolic beta-glucosidase-like protein 1; cytosolic GCase; glucosidase beta acid 3; cytosolic glycosylceramidase" /calculated_mol_wt=53565 Region 3..464 /region_name="Glyco_hydro_1" /note="Glycosyl hydrolase family 1; cl23725" /db_xref="CDD:304882" Region 424..425 /region_name="Substrate binding. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9H227.2)" CDS 1..469 /gene="GBA3" /gene_synonym="CBG; CBGL1; GLUC; KLRP" /coded_by="NM_020973.4:103..1512" /note="isoform a is encoded by transcript variant 1, coding" /db_xref="GeneID:57733" /db_xref="HGNC:HGNC:19069" /db_xref="MIM:606619" ORIGIN 1 mafpagfgwa aataayqveg gwdadgkgpc vwdtfthqgg ervfknqtgd vacgsytlwe 61 edlkcikqlg lthyrfslsw srllpdgttg finqkgidyy nkiiddllkn gvtpivtlyh 121 fdlpqtledq ggwlseaiie sfdkyaqfcf stfgdrvkqw itineanvls vmsydlgmfp 181 pgiphfgtgg yqaahnlika harswhsyds lfrkkqkgmv slslfavwle padpnsvsdq 241 eaakraitfh ldlfakpifi dgdypevvks qiasmsqkqg ypssrlpeft eeekkmikgt 301 adffavqyyt trlikyqenk kgelgilqda eieffpdpsw knvdwiyvvp wgvckllkyi 361 kdtynnpviy itengfpqsd paplddtqrw eyfrqtfqel fkaiqldkvn lqvycawsll 421 dnfewnqgys srfglfhvdf edparprvpy tsakeyakii rnngleahl // LOCUS NP_001269465 1104 aa linear PRI 01-SEP-2020 DEFINITION liprin-alpha-2 isoform j [Homo sapiens]. ACCESSION NP_001269465 VERSION NP_001269465.1 DBSOURCE REFSEQ: accession NM_001282536.1 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 1104) AUTHORS He Y, de Witte LD, Schubart CD, Van Gastel WA, Koeleman BPC, de Jong S, Ophoff RA, Hol EM and Boks MP. TITLE Liprin alfa 2 gene expression is increased by cannabis use and associated with neuropsychological function JOURNAL Eur Neuropsychopharmacol 29 (5), 643-652 (2019) PUBMED 30879928 REMARK GeneRIF: Liprin alfa 2 gene expression is increased by cannabis use and associated with neuropsychological function. REFERENCE 2 (residues 1 to 1104) AUTHORS Stucchi R, Plucinska G, Hummel JJA, Zahavi EE, Guerra San Juan I, Klykov O, Scheltema RA, Altelaar AFM and Hoogenraad CC. TITLE Regulation of KIF1A-Driven Dense Core Vesicle Transport: Ca(2+)/CaM Controls DCV Binding and Liprin-alpha/TANC2 Recruits DCVs to Postsynaptic Sites JOURNAL Cell Rep 24 (3), 685-700 (2018) PUBMED 30021165 REFERENCE 3 (residues 1 to 1104) AUTHORS Uehara DT, Hayashi S, Okamoto N, Mizuno S, Chinen Y, Kosaki R, Kosho T, Kurosawa K, Matsumoto H, Mitsubuchi H, Numabe H, Saitoh S, Makita Y, Hata A, Imoto I and Inazawa J. TITLE SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements JOURNAL J. Hum. Genet. 61 (4), 335-343 (2016) PUBMED 26740234 REMARK GeneRIF: mong the 22 cases, we identified PPFIA2 as a novel candidate gene forIntellect Analysis of copy-neutral loss of heterozygosity (CNLOH) detected one case in which the CNLOH regions seem to be significant. The SNP array detected a modest fraction of small causative CNVs, which is explained by the fact that the majority of causative CNVs have larger sizes, and those had been mostly identified in the two previous screenings. REFERENCE 4 (residues 1 to 1104) 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 1104) AUTHORS Ritchie MD, Verma SS, Hall MA, Goodloe RJ, Berg RL, Carrell DS, Carlson CS, Chen L, Crosslin DR, Denny JC, Jarvik G, Li R, Linneman JG, Pathak J, Peissig P, Rasmussen LV, Ramirez AH, Wang X, Wilke RA, Wolf WA, Torstenson ES, Turner SD and McCarty CA. TITLE Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci JOURNAL Mol. Vis. 20, 1281-1295 (2014) PUBMED 25352737 REMARK Publication Status: Online-Only REFERENCE 6 (residues 1 to 1104) AUTHORS Wei Z, Zheng S, Spangler SA, Yu C, Hoogenraad CC and Zhang M. TITLE Liprin-mediated large signaling complex organization revealed by the liprin-alpha/CASK and liprin-alpha/liprin-beta complex structures JOURNAL Mol. Cell 43 (4), 586-598 (2011) PUBMED 21855798 REMARK GeneRIF: Liprins can mediate assembly of target proteins into large protein complexes capable of regulating numerous cellular activities. REFERENCE 7 (residues 1 to 1104) AUTHORS Ko J, Kim S, Valtschanoff JG, Shin H, Lee JR, Sheng M, Premont RT, Weinberg RJ and Kim E. TITLE Interaction between liprin-alpha and GIT1 is required for AMPA receptor targeting JOURNAL J. Neurosci. 23 (5), 1667-1677 (2003) PUBMED 12629171 REFERENCE 8 (residues 1 to 1104) AUTHORS Fujinami K, Uemura H, Ishiguro H and Kubota Y. TITLE Liprin-alpha2 gene, protein tyrosine phosphatase LAR interacting protein related gene, is downregulated by androgens in the human prostate cancer cell line LNCaP JOURNAL Int. J. Mol. Med. 10 (2), 173-176 (2002) PUBMED 12119554 REMARK GeneRIF: Liprin-alpha2 expression is downregulated by androgens in prostate cancer cells. It might play a role in androgen-responsive human prostate cancer & the loss of this gene expression might be associated with the androgen-independence. REFERENCE 9 (residues 1 to 1104) AUTHORS Wyszynski M, Kim E, Dunah AW, Passafaro M, Valtschanoff JG, Serra-Pages C, Streuli M, Weinberg RJ and Sheng M. TITLE Interaction between GRIP and liprin-alpha/SYD2 is required for AMPA receptor targeting JOURNAL Neuron 34 (1), 39-52 (2002) PUBMED 11931740 REFERENCE 10 (residues 1 to 1104) AUTHORS Serra-Pages C, Medley QG, Tang M, Hart A and Streuli M. TITLE Liprins, a family of LAR transmembrane protein-tyrosine phosphatase-interacting proteins JOURNAL J. Biol. Chem. 273 (25), 15611-15620 (1998) PUBMED 9624153 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB083201.1, AK302658.1, BU568524.1, BM661844.1, CB051855.1, EL947964.1 and AW304872.1. Summary: The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein has been shown to bind the calcium/calmodulin-dependent serine protein kinase (MAGUK family) protein (also known as CASK) and proposed to regulate higher-order brain functions in mammals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Transcript Variant: This variant (8) uses an alternate 5' exon structure, and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (j) 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## CDS exon combination :: SRR1660807.155554.1, SRR1660809.93710.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1104 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q21.31" Protein 1..1104 /product="liprin-alpha-2 isoform j" /note="protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2; liprin-alpha-2" /calculated_mol_wt=125776 Region <36..380 /region_name="SMC_N" /note="RecF/RecN/SMC N terminal domain; cl25732" /db_xref="CDD:330553" Region 742..812 /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 866..931 /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 951..1022 /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..1104 /gene="PPFIA2" /coded_by="NM_001282536.1:265..3579" /note="isoform j is encoded by transcript variant 8" /db_xref="CCDS:CCDS73503.1" /db_xref="GeneID:8499" /db_xref="HGNC:HGNC:9246" /db_xref="MIM:603143" ORIGIN 1 mtvvkrqaqs psgvssevev lkalkslfeh hkaldekvre rlrvslervs aleeelaaan 61 qeivalreqn vhiqrkmass egstesehle gmepgqkvhe krlsngsids tdetsqivel 121 qellekqnye maqmkerlaa lssrvgeveq eaetarkdli kteemntkyq rdireamaqk 181 edmeerittl ekrylsaqre stsihdmndk lenelankea ilrqmeeknr qlqerlelae 241 qklqqtmrka etlpeveael aqriaaltka eerhgnieer mrhlegqlee knqelqrarq 301 rekmneehnk rlsdtvdrll tesnerlqlh lkermaalee knvliqeset frknleeslh 361 dkerlaeeie klrseldqlk mrtgsliept iprthldtsa elrysvgslv dsqsdyrttk 421 virrprrgrm gvrrdepkvk slgdhewnrt qqigvlsshp fesdtemsdi ddddretifs 481 smdllspsgh sdaqtlamml qeqldainke irliqeekes telraeeien rvasvslegl 541 nlarvhpgts itasvtassl asssppsghs tpkltprspa remdrmgvmt lpsdlrkhrr 601 kiavveedgr edkatikcet sppptpralr mthtlpssyh ndarsslsvs lepeslglgs 661 anssqdslhk apkkkgikss igrlfgkkek arlgqlrgfm eteaaaqesl glgklgtqae 721 kdrrlkkkhe lleearrkgl pfaqwdgptv vawlelwlgm pawyvaacra nvksgaimsa 781 lsdteiqrei gisnplhrlk lrlaiqemvs ltspsappts rtpsgnvwvt heemenlaap 841 aktkeseegs waqcpvflqt laygdmnhew ignewlpslg lpqyrsyfme clvdarmldh 901 ltkkdlrvhl kmvdsfhrts lqygimclkr lnydrkeler rreasqheik dvlvwsndrv 961 irwiqaiglr eyannilesg vhgslialde nfdysslall lqiptqntqa rqilereynn 1021 llalgterrl desddknfrr gstwrrqfpp revhgismmp gssetlpagf rltttsgqsr 1081 kmttdvassr lqrldnstvr tysc // LOCUS NP_001009562 640 aa linear PRI 01-SEP-2020 DEFINITION putative solute carrier organic anion transporter family member 1B7 [Homo sapiens]. ACCESSION NP_001009562 XP_292093 VERSION NP_001009562.3 DBSOURCE REFSEQ: accession NM_001009562.4 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 640) AUTHORS Malagnino V, Duthaler U, Seibert I, Krahenbuhl S and Meyer Zu Schwabedissen HE. TITLE OATP1B3-1B7 (LST-3TM12) Is a Drug Transporter That Affects Endoplasmic Reticulum Access and the Metabolism of Ezetimibe JOURNAL Mol. Pharmacol. 96 (2), 128-137 (2019) PUBMED 31127008 REMARK GeneRIF: Results showed that OATP1B3-1B7 interacts with several drugs. One of the identified inhibitors was ezetimibe, which is also a substrate ofOATP1B3-1B7. Moreover, ezetimibe glucuronidation rates were decreased by bromsulphthalein, which is a OATP1B3-1B7 inhibitor. Thus, OATP1B3- 1B7 may function as a smooth endoplasmic reticulum gateway for ezetimibe. REFERENCE 2 (residues 1 to 640) AUTHORS Malagnino V, Hussner J, Seibert I, Stolzenburg A, Sager CP and Meyer Zu Schwabedissen HE. TITLE LST-3TM12 is a member of the OATP1B family and a functional transporter JOURNAL Biochem. Pharmacol. 148, 75-87 (2018) PUBMED 29248594 REMARK GeneRIF: This study investigated the expression and function of LST-3TM12 as a member of a multigene family. REFERENCE 3 (residues 1 to 640) AUTHORS Buch S, Schafmayer C, Volzke H, Seeger M, Miquel JF, Sookoian SC, Egberts JH, Arlt A, Pirola CJ, Lerch MM, John U, Franke A, von Kampen O, Brosch M, Nothnagel M, Kratzer W, Boehm BO, Broring DC, Schreiber S, Krawczak M and Hampe J. TITLE Loci from a genome-wide analysis of bilirubin levels are associated with gallstone risk and composition JOURNAL Gastroenterology 139 (6), 1942-1951 (2010) PUBMED 20837016 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 AF401642.1 and AC087309.10. On Oct 28, 2006 this sequence version replaced NP_001009562.2. ##Evidence-Data-START## Transcript exon combination :: AF401642.1, AY257470.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN04284274 [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..640 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12p12.2" Protein 1..640 /product="putative solute carrier organic anion transporter family member 1B7" /note="liver-specific organic anion transporter 3; liver-specific organic anion transporter 3TM12; organic anion transporter LST-3b; solute carrier organic anion transporter family, member 1B7 (non-functional)" /calculated_mol_wt=71117 Region 1..574 /region_name="OATP" /note="Organic Anion Transporter Polypeptide (OATP) family; pfam03137" /db_xref="CDD:281175" Region 12..>187 /region_name="MFS" /note="The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of...; cd06174" /db_xref="CDD:119392" Site 17..37 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (G3V0H7.1)" Site 50..70 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (G3V0H7.1)" Site 124..144 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (G3V0H7.1)" Site 160..180 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (G3V0H7.1)" Site 212..232 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (G3V0H7.1)" Site 246 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9Y6L6; propagated from UniProtKB/Swiss-Prot (G3V0H7.1)" Site 293..313 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (G3V0H7.1)" Site 330..350 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (G3V0H7.1)" Site 363..383 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (G3V0H7.1)" Region 408..461 /region_name="KAZAL_SLC21" /note="The kazal-type serine protease inhibitor domain has been detected in an extracellular loop region of solute carrier 21 (SLC21) family members (organic anion transporters), which may regulate the specificity of anion uptake. The KAZAL_SLC21 domain is a...; cd01330" /db_xref="CDD:238650" Site 493..513 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (G3V0H7.1)" Site 522..542 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (G3V0H7.1)" Site 578..598 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (G3V0H7.1)" Site 636 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9Y6L6; propagated from UniProtKB/Swiss-Prot (G3V0H7.1)" CDS 1..640 /gene="SLCO1B7" /gene_synonym="LST-3; LST-3TM12; LST3; SLC21A21" /coded_by="NM_001009562.4:1..1923" /db_xref="CCDS:CCDS44843.1" /db_xref="GeneID:338821" /db_xref="HGNC:HGNC:32934" ORIGIN 1 mkisttqier rfeissslvg lidgsfeign lfvivfvsyf gsklhrpkli gigcflmgtg 61 silmalphff mgyyrysket nidpsensts nlpnclinqm lslnrtpsei iergcvkesg 121 shmwiyvfmg nmlrgigetp ivplgisyid dfakeghssl ylgtvnvmgm tglvfafmlg 181 slfakmyvdi gyvdlstiri tpkdsrwvga wwlgflvsgi vsiissipff flplnpnkpq 241 kerkvslflh vlktndkrnq ianltnrrky itknvtgffq slksiltnpl yvifviftll 301 hmssyiaslt yiikmveqqy gwsasktnfl lgvlalpava igmfsggyii kkfklslvgl 361 aklafcsatv hllsqvlyff licesksvag ltltydgnsp vrshvdvpls ycnsecncde 421 sqwepvcgnn gitylspcla gcksssgnke pivfyncscv eviglqnkny sahlgecprd 481 dactrksyvy fviqvldafl cavgltsysv lvirivqpel kalaigfhsm imrslggilv 541 piyfgalidt tcmkwstnsc gargacriyn stylgraffg lkvalifpvl vlltvfifvv 601 rkkshgkdtk vlenerqvmd eanleflnds ehfvpsaeeq // LOCUS NP_001243367 306 aa linear PRI 01-SEP-2020 DEFINITION CDK5 and ABL1 enzyme substrate 1 isoform 3 [Homo sapiens]. ACCESSION NP_001243367 VERSION NP_001243367.1 DBSOURCE REFSEQ: accession NM_001256438.1 KEYWORDS RefSeq. SOURCE Homo 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 Hernandez-Ramirez LC, Gam R, Valdes N, Lodish MB, Pankratz N, Balsalobre A, Gauthier Y, Faucz FR, Trivellin G, Chittiboina P, Lane J, Kay DM, Dimopoulos A, Gaillard S, Neou M, Bertherat J, Assie G, Villa C, Mills JL, Drouin J and Stratakis CA. TITLE Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease JOURNAL Endocr. Relat. Cancer 24 (8), 379-392 (2017) PUBMED 28533356 REMARK GeneRIF: We have identified four potentially pathogenic missense CABLES1 variants as a novel, although infrequent, cause of Cushing's Disease in children and young adults. REFERENCE 2 (residues 1 to 306) AUTHORS Liu J, Wang Y, Cui J, Sun M, Pu Z, Wang C, Du W, Liu X, Wu J, Hou J, Zhang S and Yu B. TITLE miR199a-3p regulates P53 by targeting CABLES1 in mouse cardiac c-kit(+) cells to promote proliferation and inhibit apoptosis through a negative feedback loop JOURNAL Stem Cell Res Ther 8 (1), 127 (2017) PUBMED 28583208 REMARK GeneRIF: miR199a-3p and P53 are coupled through CABLES1 and comprise a novel negative feedback loop that likely contributes to cardiac c-kit(+) cell proliferation and apoptosis. Erratum:[Stem Cell Res Ther. 2019 Dec 20;10(1):404. PMID: 31862017] Publication Status: Online-Only REFERENCE 3 (residues 1 to 306) 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 306) AUTHORS Pu Z, Wang Y, Liu X, Liu J, Cui J, Wang Y, Lv B and Yu B. TITLE Cables1 Inhibits Proliferation and Induces Senescence by Angiotensin II via a p21-Dependent Pathway in Human Umbilical Vein Endothelial Cells JOURNAL J. Vasc. Res. 54 (1), 13-21 (2017) PUBMED 28118639 REMARK GeneRIF: Cables1/p21 pathway has a strong effect on the induction of cell senescence and inhibition of cell growth, and acts as a novel regulatory mechanism in which p21 is probably one of several downstream effector molecules to mediate Cables1. REFERENCE 5 (residues 1 to 306) AUTHORS Zhang H, Duan HO, Kirley SD, Zukerberg LR and Wu CL. TITLE Aberrant splicing of cables gene, a CDK regulator, in human cancers JOURNAL Cancer Biol. Ther. 4 (11), 1211-1215 (2005) PUBMED 16177568 REMARK GeneRIF: Analysis of the RT-PCR prducts of the CABLES1 gene showed eight intragenic deletions in its mRNA transcripts; 5/8 are the result of RNA splicing. REFERENCE 6 (residues 1 to 306) AUTHORS Tsuji K, Mizumoto K, Yamochi T, Nishimoto I and Matsuoka M. TITLE Differential effect of ik3-1/cables on p53- and p73-induced cell death JOURNAL J. Biol. Chem. 277 (4), 2951-2957 (2002) PUBMED 11706030 REMARK Erratum:[J Biol Chem 2002 May 10;277(19):17374] REFERENCE 7 (residues 1 to 306) AUTHORS Wu CL, Kirley SD, Xiao H, Chuang Y, Chung DC and Zukerberg LR. TITLE Cables enhances cdk2 tyrosine 15 phosphorylation by Wee1, inhibits cell growth, and is lost in many human colon and squamous cancers JOURNAL Cancer Res. 61 (19), 7325-7332 (2001) PUBMED 11585773 REFERENCE 8 (residues 1 to 306) AUTHORS Yamochi T, Nishimoto I, Okuda T and Matsuoka M. TITLE ik3-1/Cables is associated with Trap and Pctaire2 JOURNAL Biochem. Biophys. Res. Commun. 286 (5), 1045-1050 (2001) PUBMED 11527406 REFERENCE 9 (residues 1 to 306) AUTHORS Matsuoka M, Matsuura Y, Semba K and Nishimoto I. TITLE Molecular cloning of a cyclin-like protein associated with cyclin-dependent kinase 3 (cdk 3) in vivo JOURNAL Biochem. Biophys. Res. Commun. 273 (2), 442-447 (2000) PUBMED 10873625 REMARK Erratum:[Biochem Biophys Res Commun 2000 Aug 11;274(3):880] REFERENCE 10 (residues 1 to 306) AUTHORS Zukerberg LR, Patrick GN, Nikolic M, Humbert S, Wu CL, Lanier LM, Gertler FB, Vidal M, Van Etten RA and Tsai LH. TITLE Cables links Cdk5 and c-Abl and facilitates Cdk5 tyrosine phosphorylation, kinase upregulation, and neurite outgrowth JOURNAL Neuron 26 (3), 633-646 (2000) PUBMED 10896159 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK296407.1, AC105247.16 and AC011731.8. Summary: This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and use an alternate start codon compared to variant 1. The resulting protein (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 :: AK296407.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..306 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="18" /map="18q11.2" Protein 1..306 /product="CDK5 and ABL1 enzyme substrate 1 isoform 3" /note="interactor with CDK3 1; CDK5 and ABL1 enzyme substrate 1" /calculated_mol_wt=34462 Region 189..274 /region_name="CYCLIN" /note="Cyclin box fold. Protein binding domain functioning in cell-cycle and transcription control. Present in cyclins, TFIIB and Retinoblastoma (RB).The cyclins consist of 8 classes of cell cycle regulators that regulate cyclin dependent kinases (CDKs). TFIIB...; cd00043" /db_xref="CDD:238003" Site order(189,195..196,198..199,222,232..233) /site_type="binding" /note="binding site 1" /db_xref="CDD:238003" Site order(241,245,251,268,271..272) /site_type="binding" /note="binding site 2" /db_xref="CDD:238003" CDS 1..306 /gene="CABLES1" /gene_synonym="CABL1; CABLES; HsT2563; IK3-1" /coded_by="NM_001256438.1:244..1164" /note="isoform 3 is encoded by transcript variant 4" /db_xref="CCDS:CCDS58615.1" /db_xref="GeneID:91768" /db_xref="HGNC:HGNC:25097" /db_xref="MIM:609194" ORIGIN 1 mrqhdtrngr ivlisgrrsf csifsvlpyr dstqvgdlkl dggrqstgav slkeiigleg 61 velgadgktv sytqfllptn afgarrntid stssfsqfrn lshrslsigr asgtqgsldt 121 gsdlgdfmdy dpnllddpqw pcgkhkrvli fpsymttvid yvkpsdlkkd mnetfkekfp 181 hikltlskir slkremrkla qedcgleept vamafvyfek lalkgklnkq nrklcagacv 241 llaakigsdl kkhevkhlid kleekfrlnr reliafefpv lvalefalhl pehevmphyr 301 rlvqss // LOCUS NP_852609 1015 aa linear PRI 01-SEP-2020 DEFINITION Hermansky-Pudlak syndrome 5 protein isoform b [Homo sapiens]. ACCESSION NP_852609 VERSION NP_852609.1 DBSOURCE REFSEQ: accession NM_181508.1 KEYWORDS RefSeq. SOURCE Homo 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 Botero JP, Chen D, Majerus JA, Coon LM, He R, Warad DM, Pruthi RK and Nichols WL. TITLE Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype JOURNAL Platelets 29 (1), 91-94 (2018) PUBMED 29090612 REMARK GeneRIF: This case underscores the importance of recognizing the mild clinical phenotype of HPS-5 and utilization of both laboratory and molecular testing for diagnosis, prognostication, and surveillance for end organ damage in patients affected with HPS. Review article REFERENCE 2 (residues 1 to 1015) AUTHORS Wei A, Yuan Y, Bai D, Ma J, Hao Z, Zhang Y, Yu J, Zhou Z, Yang L, Yang X, Li L and Li W. TITLE NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients JOURNAL Pigment Cell Melanoma Res 29 (6), 702-706 (2016) PUBMED 27593200 REMARK GeneRIF: HPS5 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome. REFERENCE 3 (residues 1 to 1015) AUTHORS Li K, Yang L, Zhang C, Niu Y, Li W and Liu JJ. TITLE HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes JOURNAL J. Cell. Sci. 127 (Pt 21), 4574-4588 (2014) PUBMED 25189619 REFERENCE 4 (residues 1 to 1015) 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 5 (residues 1 to 1015) AUTHORS Ringeisen AL, Schimmenti LA, White JG, Schoonveld C and Summers CG. TITLE Hermansky-Pudlak syndrome (HPS5) in a nonagenarian JOURNAL J AAPOS 17 (3), 334-336 (2013) PUBMED 23607980 REMARK GeneRIF: We report a 92-year-old man with HPS 5 who, to our knowledge, is the oldest patient with HPS documented in the literature. REFERENCE 6 (residues 1 to 1015) AUTHORS Huizing M, Hess R, Dorward H, Claassen DA, Helip-Wooley A, Kleta R, Kaiser-Kupfer MI, White JG and Gahl WA. TITLE Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5 JOURNAL Traffic 5 (9), 711-722 (2004) PUBMED 15296495 REMARK GeneRIF: LAMP-3 distribution was restricted to the perinuclear region in HPS-5 fibroblasts, instead of extending to the periphery REFERENCE 7 (residues 1 to 1015) AUTHORS Di Pietro SM, Falcon-Perez JM and Dell'Angelica EC. TITLE Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6 JOURNAL Traffic 5 (4), 276-283 (2004) PUBMED 15030569 REMARK GeneRIF: Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease. REFERENCE 8 (residues 1 to 1015) AUTHORS Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA and Swank RT. TITLE Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6 JOURNAL Nat. Genet. 33 (2), 145-153 (2003) PUBMED 12548288 REFERENCE 9 (residues 1 to 1015) 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 REFERENCE 10 (residues 1 to 1015) AUTHORS Huizing,M., Malicdan,M.C.V., Gochuico,B.R. and Gahl,W.A. TITLE Hermansky-Pudlak Syndrome JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K 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 AF534400.1 and AA886415.1. Summary: This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame segment of the coding region, compared to variant 1. These differences cause translation initiation at a downstream ATG and an isoform (b) 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 :: AF534400.1, AB023234.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1015 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11p15.1" Protein 1..1015 /product="Hermansky-Pudlak syndrome 5 protein isoform b" /note="alpha integrin binding protein 63; ruby-eye protein 2 homolog; Hermansky-Pudlak syndrome 5 protein" /calculated_mol_wt=114695 CDS 1..1015 /gene="HPS5" /gene_synonym="AIBP63; BLOC2S2" /coded_by="NM_181508.1:277..3324" /note="isoform b is encoded by transcript variant 3" /db_xref="CCDS:CCDS7837.1" /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 NP_001004353 308 aa linear PRI 01-SEP-2020 DEFINITION protein STPG3 isoform c [Homo sapiens]. ACCESSION NP_001004353 XP_497086 VERSION NP_001004353.2 DBSOURCE REFSEQ: accession NM_001004353.3 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 308) 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 REFERENCE 2 (residues 1 to 308) 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 308) 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 BC144308.2, BC033939.1, BX255925.17 and BC050094.1. On Jan 27, 2007 this sequence version replaced NP_001004353.1. 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 c, which has a shorter and distinct C-terminus, compared to isoform a. ##Evidence-Data-START## Transcript exon combination :: BC144308.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..308 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q34.3" Protein 1..308 /product="protein STPG3 isoform c" /note="sperm-tail PG-rich repeat-containing protein 3; protein STPG3" /calculated_mol_wt=34003 CDS 1..308 /gene="STPG3" /gene_synonym="C9orf173" /coded_by="NM_001004353.3:27..953" /note="isoform c is encoded by transcript variant 3" /db_xref="CCDS:CCDS48065.1" /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 qeqkwpspah yqllsrpafp 181 afsfrgchsa sktpeghthl glpgarglgl rvqpqsllqa slqapgkrcp gpntynilpg 241 srlqsprspa fsmsrspaft swlstsrtpg paayhvedcn srfpsapgvv iqgvrrpkrh 301 dtgpfctl // LOCUS NP_085145 433 aa linear PRI 01-SEP-2020 DEFINITION apolipoprotein L5 [Homo sapiens]. ACCESSION NP_085145 XP_945833 VERSION NP_085145.1 DBSOURCE REFSEQ: accession NM_030642.1 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 433) AUTHORS Namjou B, Keddache M, Marsolo K, Wagner M, Lingren T, Cobb B, Perry C, Kennebeck S, Holm IA, Li R, Crimmins NA, Martin L, Solti I, Kohane IS and Harley JB. TITLE EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children JOURNAL Front Genet 4, 268 (2013) PUBMED 24348519 REMARK Publication Status: Online-Only REFERENCE 2 (residues 1 to 433) AUTHORS Jagannathan K, Calhoun VD, Gelernter J, Stevens MC, Liu J, Bolognani F, Windemuth A, Ruano G, Assaf M and Pearlson GD. TITLE Genetic associations of brain structural networks in schizophrenia: a preliminary study JOURNAL Biol. Psychiatry 68 (7), 657-666 (2010) PUBMED 20691427 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 3 (residues 1 to 433) AUTHORS Ruano G, Thompson PD, Kane JP, Pullinger CR, Windemuth A, Seip RL, Kocherla M, Holford TR and Wu AH. TITLE Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? JOURNAL Pharmacogenomics 11 (7), 959-971 (2010) PUBMED 20602615 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (residues 1 to 433) 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 5 (residues 1 to 433) AUTHORS Page NM, Butlin DJ, Lomthaisong K and Lowry PJ. TITLE The human apolipoprotein L gene cluster: identification, classification, and sites of distribution JOURNAL Genomics 74 (1), 71-78 (2001) PUBMED 11374903 REMARK GeneRIF: APOL5 has been found only in humans REFERENCE 6 (residues 1 to 433) 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 AY014878.1. On Mar 4, 2006 this sequence version replaced XP_945833.1. Summary: This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AY014878.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000249044.2/ ENSP00000249044.2 RefSeq Select criteria :: based on longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..433 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="22" /map="22q12.3" Protein 1..433 /product="apolipoprotein L5" /note="apolipoprotein L, 5; apolipoprotein L-V" /calculated_mol_wt=46913 Region 55..350 /region_name="ApoL" /note="Apolipoprotein L; pfam05461" /db_xref="CDD:283187" CDS 1..433 /gene="APOL5" /gene_synonym="APOL-V; APOLV" /coded_by="NM_030642.1:1..1302" /db_xref="CCDS:CCDS13920.1" /db_xref="GeneID:80831" /db_xref="HGNC:HGNC:14869" /db_xref="MIM:607255" ORIGIN 1 mpcgkqgnlq vpgskvlpgl gegckemwlr kviyggevwg kspepefpsl vnlcqswkin 61 nlmstvhsde agmlsyflfe elmrcdkdsm pdgnlseeek lflsyfplhk feleqnikel 121 ntladqvdtt helltktslv asssgavsgv mnilglalap vtaggslmls atgtglgaaa 181 aitnivtnvl enrsnsaard kasrlgpltt sheafgginw seieaagfcv nkcvkaiqgi 241 kdlhayqmak snsgfmamvk nfvakrhipf wtargvqraf egttlamtng awvmgaagag 301 fllmkdmssf lqswkhledg artetaeelr alakkleqel drltqhhrhl pqkasqtcss 361 srgravrgsr vvkpegsrsp lpwpvvehqp rlgpgvalrt pkrtvsaprm lghqpappap 421 arkgrqapgr hrq // LOCUS NP_149018 655 aa linear PRI 01-SEP-2020 DEFINITION leishmanolysin-like peptidase isoform 2 [Homo sapiens]. ACCESSION NP_149018 VERSION NP_149018.2 DBSOURCE REFSEQ: accession NM_033029.3 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 655) AUTHORS Cobbe N, Marshall KM, Gururaja Rao S, Chang CW, Di Cara F, Duca E, Vass S, Kassan A and Heck MM. TITLE The conserved metalloprotease invadolysin localizes to the surface of lipid droplets JOURNAL J. Cell. Sci. 122 (Pt 18), 3414-3423 (2009) PUBMED 19706689 REMARK GeneRIF: Immunofluorescent detection of human invadolysin in cultured cells reveals the protein to be associated with the surface of lipid droplets. REFERENCE 2 (residues 1 to 655) AUTHORS McHugh B, Krause SA, Yu B, Deans AM, Heasman S, McLaughlin P and Heck MM. TITLE Invadolysin: a novel, conserved metalloprotease links mitotic structural rearrangements with cell migration JOURNAL J. Cell Biol. 167 (4), 673-686 (2004) PUBMED 15557119 REMARK GeneRIF: Functional characterization of a similar protein in Drosophila and comparative studies with the human protein. COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AJ312399.1, AK299119.1 and AC135893.2. On Jul 19, 2006 this sequence version replaced NP_149018.1. Summary: This gene encodes a zinc-metallopeptidase. The encoded protein may play a role in cell migration and invasion. Studies of a similar protein in Drosophila indicate a potential role in mitotic progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]. Transcript Variant: This variant (2) lacks an alternate in-frame exon in the mid 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 :: AJ312399.1, SRR1803612.103784.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..655 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q29" Protein 1..655 /product="leishmanolysin-like peptidase isoform 2" /EC_number="3.4.24.36" /note="leishmanolysin-like (metallopeptidase M8 family); leishmanolysin-2; invadolysin" /calculated_mol_wt=73437 Region 107..602 /region_name="Peptidase_M8" /note="Leishmanolysin; cl19482" /db_xref="CDD:302875" CDS 1..655 /gene="LMLN" /gene_synonym="GP63; INV; IX14; LMNL1; MSP" /coded_by="NM_033029.3:23..1990" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS3332.1" /db_xref="GeneID:89782" /db_xref="HGNC:HGNC:15991" /db_xref="MIM:609380" ORIGIN 1 mvttlgpkma aewgggvgys gsgpgrsrwr wsgsvwvrsv llllgglras atstpvslgs 61 sppcrhhvps dtevinkvhl kanhvvkrdv dehlriktvy dksveellpe kknlvknklf 121 pqaisylekt fqvrrpagti llsrqcatnq ylrkendphr yctgecaaht kcgpvivpee 181 hlqqcrvyrg gkwphgavgv pdqegisdad fvlyvgalat ercsheniis yaaycqqean 241 mdrpiagyan lcpnmistqp qefvgmlstv khevihalgf saglfafyhd kdgnpltsrf 301 adglppfnys lglyqwsdkv vrkverlwdv rdnkivrhtv yllvtprvve earkhfdcpv 361 legmelenqg gvgtelnhwe krlleneamt gshtqnrvls ritlalmedt grqmlspycd 421 tlrsnplqlt crqdqravav cnlqkfpkpl pqeyqyfdel sgipaedlpy yggsveiady 481 cpfsqefswh lsgeyqrssd crilenqpei fknygaekyg phsvcliqks afvmekcerk 541 lsypdwgsgc yqvscspqgl kvwvqdtsyl csragqvlpv siqmngwihd gnllcpscwd 601 fcelcppetd ppatnltral pldlcscsss lvvtlwlllg nlfpllagfl lciwh // LOCUS NP_001265672 129 aa linear PRI 01-SEP-2020 DEFINITION tetraspanin-6 isoform d precursor [Homo sapiens]. ACCESSION NP_001265672 VERSION NP_001265672.1 DBSOURCE REFSEQ: accession NM_001278743.1 KEYWORDS RefSeq. SOURCE Homo 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 Guix FX, Sannerud R, Berditchevski F, Arranz AM, Horre K, Snellinx A, Thathiah A, Saido T, Saito T, Rajesh S, Overduin M, Kumar-Singh S, Radaelli E, Corthout N, Colombelli J, Tosi S, Munck S, Salas IH, Annaert W and De Strooper B. TITLE Tetraspanin 6: a pivotal protein of the multiple vesicular body determining exosome release and lysosomal degradation of amyloid precursor protein fragments JOURNAL Mol Neurodegener 12 (1), 25 (2017) PUBMED 28279219 REMARK GeneRIF: Results shows that TSPAN6 is a crucial player in Amyloid Precursor Protein-C-terminal fragment turnover Publication Status: Online-Only REFERENCE 2 (residues 1 to 129) AUTHORS Vincent AK, Noor A, Janson A, Minassian BA, Ayub M, Vincent JB and Morel CF. TITLE Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures JOURNAL Clin. Genet. 82 (6), 540-545 (2012) PUBMED 22091964 REFERENCE 3 (residues 1 to 129) AUTHORS Wang Y, Tong X, Omoregie ES, Liu W, Meng S and Ye X. TITLE Tetraspanin 6 (TSPAN6) negatively regulates retinoic acid-inducible gene I-like receptor-mediated immune signaling in a ubiquitination-dependent manner JOURNAL J. Biol. Chem. 287 (41), 34626-34634 (2012) PUBMED 22908223 REMARK GeneRIF: TSPAN6 functions as a negative regulator of the RLR pathway by interacting with MAVS in a ubiquitination-dependent manner. REFERENCE 4 (residues 1 to 129) 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 5 (residues 1 to 129) 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 129) AUTHORS Yunta M and Lazo PA. TITLE Tetraspanin proteins as organisers of membrane microdomains and signalling complexes JOURNAL Cell. Signal. 15 (6), 559-564 (2003) PUBMED 12681443 REMARK Review article REFERENCE 7 (residues 1 to 129) 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 8 (residues 1 to 129) AUTHORS Maeda K, Matsuhashi S, Hori K, Xin Z, Mukai T, Tabuchi K, Egashira M and Niikawa N. TITLE Cloning and characterization of a novel human gene, TM4SF6, encoding a protein belonging to the transmembrane 4 superfamily, and mapped to Xq22 JOURNAL Genomics 52 (2), 240-242 (1998) PUBMED 9782095 REFERENCE 9 (residues 1 to 129) 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 129) AUTHORS Maecker HT, Todd SC and Levy S. TITLE The tetraspanin superfamily: molecular facilitators JOURNAL FASEB J. 11 (6), 428-442 (1997) PUBMED 9194523 REMARK Review article COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BI458635.1, DA038474.1, AB097016.1, AL035608.11 and N64145.1. 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. The protein encoded by this gene is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2 protein. It functions as a negative regulator of retinoic acid-inducible gene I-like receptor-mediated immune signaling via its interaction with the mitochondrial antiviral signaling-centered signalosome. This gene uses alternative polyadenylation sites, and multiple transcript variants result from alternative splicing. [provided by RefSeq, Jul 2013]. Transcript Variant: This variant (5) differs in its 5' UTR, lacks a portion of the 5' coding region, uses a downstream in-frame start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (d) 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## RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..129 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xq22.1" Protein 1..129 /product="tetraspanin-6 isoform d precursor" /note="transmembrane 4 superfamily member 6; tetraspan TM4SF; A15 homolog; tetraspanin TM4-D; putative NF-kappa-B-activating protein 321" /calculated_mol_wt=12690 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2286 Region 24..107 /region_name="tetraspanin_LEL" /note="Tetraspanin, extracellular domain or large extracellular loop (LEL). 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 the...; cl02781" /db_xref="CDD:322086" Site order(25,30,34,36..37,40,55,58..59,62..63) /site_type="other" /note="dimer interface [polypeptide binding]" /db_xref="CDD:239401" CDS 1..129 /gene="TSPAN6" /gene_synonym="T245; TM4SF6; TSPAN-6" /coded_by="NM_001278743.1:490..879" /note="isoform d precursor is encoded by transcript variant 5" /db_xref="CCDS:CCDS76001.1" /db_xref="GeneID:7105" /db_xref="HGNC:HGNC:11858" /db_xref="MIM:300191" ORIGIN 1 mlklyamflt lvflvelvaa ivgfvfrhei knsfknnyek alkqynstgd yrshavdkiq 61 ntlhccgvtd yrdwtdtnyy sekgfpkscc kledctpqrd adkvnnelig iflayclsra 121 itnnqyeiv // LOCUS NP_004328 505 aa linear PRI 01-SEP-2020 DEFINITION oxidative stress-induced growth inhibitor 2 isoform 2 [Homo sapiens]. ACCESSION NP_004328 VERSION NP_004328.1 DBSOURCE REFSEQ: accession NM_004337.2 KEYWORDS RefSeq. SOURCE Homo 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 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 505) AUTHORS Tauchi H, Matsuura S, Isomura M, Kinjo T, Nakamura A, Sakamoto S, Kondo N, Endo S, Komatsu K and Nakamura Y. TITLE Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21 that contains the Nijmegen breakage syndrome gene, NBS1 JOURNAL Genomics 55 (2), 242-247 (1999) PUBMED 9933573 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AF061326.1, BU688773.1 and BC031054.1. Transcript Variant: This variant (2) uses an alternate 5'UTR resulting in translation initiation from an internal AUG site compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1. ##Evidence-Data-START## Transcript exon combination :: AF061326.1, SRR1803616.251592.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..505 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="8" /map="8q21.3" Protein 1..505 /product="oxidative stress-induced growth inhibitor 2 isoform 2" /note="oxidative stress-induced growth inhibitor 2" /calculated_mol_wt=56541 Region <173..319 /region_name="NADB_Rossmann" /note="Rossmann-fold NAD(P)(+)-binding proteins; cl21454" /db_xref="CDD:304358" CDS 1..505 /gene="OSGIN2" /gene_synonym="C8orf1; hT41" /coded_by="NM_004337.2:347..1864" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS6248.1" /db_xref="GeneID:734" /db_xref="HGNC:HGNC:1355" /db_xref="MIM:604598" ORIGIN 1 mplveetsll edssvtfpvv iigngpsgic lsymlsgyrp ylsseaihpn tilnskleea 61 rhlsivdqdl eylseglegr ssnpvavlfd tllhpdadfg ydypsvlhwk leqhhyiphv 121 vlgkgppgga whnmegsmlt isfgswmelp glkfkdwvss krrslkgdrv mpeeiaryyk 181 hyvkvmglqk nfrentyits vsrlyrdqdd ddiqdrdist khlqieksnf ikrnweirgy 241 qriadgshvp fclfaenval atgtldspah leiegedfpf vfhsmpefga ainkgklrgk 301 vdpvlivgsg ltaadavlca ynsnipvihv frrrvtdpsl ifkqlpkkly peyhkvyhmm 361 ctqsysvdsn llsdytsfpe hrvlsfksdm kcvlqsvsgl kkifklsaav vligshpnls 421 flkdqgcylg hkssqpitck gnpveidtyt yecikeanlf algplvgdnf vrflkggalg 481 vtrclatrqk kkhlfvergg gdgia // LOCUS NP_001135949 68 aa linear PRI 01-SEP-2020 DEFINITION neuronal regeneration-related protein isoform a [Homo sapiens]. ACCESSION NP_001135949 VERSION NP_001135949.1 DBSOURCE REFSEQ: accession NM_001142477.1 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (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 3 (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 4 (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 5 (residues 1 to 68) AUTHORS Yao Z, Yang S, He W, Li L, Xu R, Zhang X, Li H, Zhan R, Sun W, Tan J, Zhou J, Luo G and Wu J. TITLE P311 promotes renal fibrosis via TGFbeta1/Smad signaling JOURNAL Sci Rep 5, 17032 (2015) PUBMED 26616407 REMARK GeneRIF: P311 plays a key role in renal fibrosis via TGFbeta1/Smad signaling, which could be a novel target for the management of renal fibrosis. 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 DA939543.1 and AC022108.4. Transcript Variant: This variant (5) 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 :: DA939543.1, SRR1660807.65605.1 [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="5" /map="5q22.1" Protein 1..68 /product="neuronal regeneration-related protein isoform a" /note="protein p311; neuronal protein 3.1; neuronal regeneration related protein homolog" /calculated_mol_wt=7778 Region 3..68 /region_name="Alveol-reg_P311" /note="Neuronal protein 3.1 (p311); pfam11092" /db_xref="CDD:371370" 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_001142477.1:268..474" /note="isoform a is encoded by transcript variant 5" /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_055611 383 aa linear PRI 01-SEP-2020 DEFINITION protein TESPA1 isoform 2 [Homo sapiens]. ACCESSION NP_055611 VERSION NP_055611.1 DBSOURCE REFSEQ: accession NM_014796.2 KEYWORDS RefSeq. SOURCE Homo 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 Lyu J, Wang P, Xu T, Shen Y, Cui Z, Zheng M, Fu G and Lu L. TITLE Thymic-specific regulation of TCR signaling by Tespa1 JOURNAL Cell. Mol. Immunol. 16 (12), 897-907 (2019) PUBMED 31316154 REMARK GeneRIF: Thymic-specific regulation of TCR signaling by Tespa1. REFERENCE 2 (residues 1 to 383) AUTHORS Liang J, Lyu J, Zhao M, Li D, Zheng M, Fang Y, Zhao F, Lou J, Guo C, Wang L, Wang D, Liu W and Lu L. TITLE Tespa1 regulates T cell receptor-induced calcium signals by recruiting inositol 1,4,5-trisphosphate receptors JOURNAL Nat Commun 8, 15732 (2017) PUBMED 28598420 REMARK GeneRIF: Tespa1 functions in T cell development and the regulation of TCR-induced Ca(2+) signalling through IP3R1 Erratum:[Nat Commun. 2018 Mar 12;9:16183. PMID: 29528040] Publication Status: Online-Only REFERENCE 3 (residues 1 to 383) AUTHORS Yao Y, Zhang H, Shao S, Cui G, Zhang T and Sun H. TITLE Tespa1 is associated with susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China JOURNAL Clin. Rheumatol. 34 (4), 665-671 (2015) PUBMED 25736038 REMARK GeneRIF: Tespa1 hay have a role in susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China REFERENCE 4 (residues 1 to 383) AUTHORS Liu S, Liu L, Wu S, Yang T, Pan F, Laslett L, Xia G, Hu Y, Fan D, Ding N, Xu S, Cai G, Wang L and Xin L. TITLE Lack of association between TESPA1 gene polymorphisms (rs1801876, rs2171497, rs4758994, and rs997173) and ankylosing spondylitis in a Chinese population JOURNAL Inflammation 37 (6), 2040-2046 (2014) PUBMED 24893580 REMARK GeneRIF: The TESPA1 gene was found to not be involved in ankylosing spondylitis in a Chinese population. REFERENCE 5 (residues 1 to 383) AUTHORS Fujimoto T, Matsuzaki H, Tanaka M and Shirasawa S. TITLE Tespa1 protein is phosphorylated in response to store-operated calcium entry JOURNAL Biochem. Biophys. Res. Commun. 434 (1), 162-165 (2013) PUBMED 23541577 REMARK GeneRIF: Tespa1 is post-translationally modified upon intracellular divalent calcium-ion Ca2+ increase in thymocytes. REFERENCE 6 (residues 1 to 383) AUTHORS Matsuzaki H, Fujimoto T, Tanaka M and Shirasawa S. TITLE Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux JOURNAL Biochem. Biophys. Res. Commun. 433 (3), 322-326 (2013) PUBMED 23501103 REMARK GeneRIF: Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux. REFERENCE 7 (residues 1 to 383) AUTHORS Wang D, Zheng M, Lei L, Ji J, Yao Y, Qiu Y, Ma L, Lou J, Ouyang C, Zhang X, He Y, Chi J, Wang L, Kuang Y, Wang J, Cao X and Lu L. TITLE Tespa1 is involved in late thymocyte development through the regulation of TCR-mediated signaling JOURNAL Nat. Immunol. 13 (6), 560-568 (2012) PUBMED 22561606 REMARK Publication Status: Online-Only REFERENCE 8 (residues 1 to 383) 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) COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB018291.1 and AC079842.19. Transcript Variant: This variant (3), as well as variants 4 and 5, encodes 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 :: AB018291.1, SRR1660807.28693.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..383 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q13.2" Protein 1..383 /product="protein TESPA1 isoform 2" /note="thymocyte-expressed positive selection-associated protein 1; protein TESPA1" /calculated_mol_wt=43844 Region 2..148 /region_name="KRAP_IP3R_bind" /note="Ki-ras-induced actin-interacting protein-IP3R-interacting domain; pfam14722" /db_xref="CDD:317165" CDS 1..383 /gene="TESPA1" /gene_synonym="HSPC257; ITPRID3; KIAA0748" /coded_by="NM_014796.2:465..1616" /note="isoform 2 is encoded by transcript variant 3" /db_xref="CCDS:CCDS58240.1" /db_xref="GeneID:9840" /db_xref="HGNC:HGNC:29109" /db_xref="MIM:615664" ORIGIN 1 mtggtnktss siseildkvq edaedvlfsl gfgqedhkdt sriparfftt psqakgidfq 61 lflksqvrri emedpclmla srfkqvqtla vtadaffcly syvsktpvqk ftpshmfwnc 121 nhptdvpsir ilsrepepqs prdrlrkais kmclytcprd rpppphntpk rnsldqvvle 181 vmdkvkeekq flqqdsdlgq fsqedpvppa egkklptspy pcvfcceeet qqrmstvlap 241 sqtldsnpkv pccthslpie dpqwstdpaq irrelcslpa tntethpakd etfwkrksra 301 rkslfqknlm grkvksldls itqqkwkqsv drpelrrsls qqpqdtfdle evqsnseeeq 361 sqsrwpsrpr hphhhqtfag kds // LOCUS NP_849159 588 aa linear PRI 01-SEP-2020 DEFINITION dynein assembly factor 3, axonemal isoform 2 [Homo sapiens]. ACCESSION NP_849159 VERSION NP_849159.2 DBSOURCE REFSEQ: accession NM_178837.4 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 588) 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 588) 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 588) 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), 381-389,S1-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 588) 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 588) AUTHORS Zariwala,M.A., Knowles,M.R. and Leigh,M.W. TITLE Primary Ciliary Dyskinesia JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K 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, AK097388.1, BC016843.1 and AW182162.1. This sequence is a reference standard in the RefSeqGene project. On Aug 17, 2005 this sequence version replaced NP_849159.1. 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 (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 :: AK097388.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..588 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.42" Protein 1..588 /product="dynein assembly factor 3, axonemal isoform 2" /note="UPF0470 protein C19orf51" /calculated_mol_wt=64352 Region 65..169 /region_name="DUF4470" /note="Domain of unknown function (DUF4470); pfam14737" /db_xref="CDD:291407" Region 201..487 /region_name="DUF4471" /note="Domain of unknown function (DUF4471); pfam14740" /db_xref="CDD:291410" CDS 1..588 /gene="DNAAF3" /gene_synonym="C19orf51; CILD2; DAB1; PCD; PF22" /coded_by="NM_178837.4:75..1841" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS12918.2" /db_xref="GeneID:352909" /db_xref="HGNC:HGNC:30492" /db_xref="MIM:614566" ORIGIN 1 mlplldsskr agtlgsgcgv prvhsaalsr eegasrdiwr ikvwarvmtt pagsgsgfgs 61 vswwglspal dlqaesppvd pdsqadtvhs npeldvlllg svdgrhllrt lsrakfwprr 121 rfnffvlenn leavarhmli fslaleepek mglqersetf levwgnallr ppvaafvraq 181 adllahlvpe pdrleeqlpw lslralkfre rdaleavfrf waggekgpqa fpmsrlwdsr 241 lrhylgsryd arrgvsdwdl rmklhdrgaq vihpqefrrw rdtgvafelr dssayhvpnr 301 tlasgrllsy rgervaargy wgdiatgpfv afgieaddes llrtsngqpv ktageitqhn 361 vtellrdvaa wgraratggd leeqqhaegs pepgtpaapt pesftvhflp lnsaqtlhhk 421 scyngrfqll yvacgmvhll ipelgacvap ggnlivelar ylvdvrqeql qgfntrvrel 481 aqaagfapqt garpsetfar fcksqesalg ntvpavepgt ppldilaqpl easnpalegl 541 tqplqggtph cepcqlpses pgslsevlaq pqgalappnc esdsktgv // LOCUS NP_001186711 406 aa linear PRI 01-SEP-2020 DEFINITION POC1B-GALNT4 protein isoform 2 [Homo sapiens]. ACCESSION NP_001186711 VERSION NP_001186711.1 DBSOURCE REFSEQ: accession NM_001199782.1 KEYWORDS RefSeq. SOURCE Homo 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 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 AK297677.1, AC025034.22, KF455691.2, BX647258.1 and AC010201.18. Summary: This locus represents naturally occurring transcripts that splice the 5' exons of the POC1B (POC1 centriolar protein homolog B) gene on chromosome 12 to the GALNT4 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4) gene, which is located within a POC1B intron. Alternative splicing results in two transcript variants, one of which encodes a fusion isoform that shares sequence identity with the products of each individual gene. [provided by RefSeq, Dec 2010]. Transcript Variant: This variant (2) uses an alternate upstream start codon, differs in the 5' coding region, and uses an alternate splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) shares sequence identity with the GALNT4 gene product only, 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 :: AK297677.1, SRR1163655.158069.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348, SAMEA2145122 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## readthrough transcript :: includes exons from GeneID 8693, 282809 ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..406 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q21.33" Protein 1..406 /product="POC1B-GALNT4 protein isoform 2" /note="POC1B-GALNT4 fusion; Polypeptide N-acetylgalactosaminyltransferase 4; Polypeptide GalNAc transferase 4; Protein-UDP acetylgalactosaminyltransferase 4; pp-GaNTase 4; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 4" /calculated_mol_wt=45571 Region <121..260 /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:299700" Region 274..404 /region_name="RICIN" /note="Ricin-type beta-trefoil; Carbohydrate-binding domain formed from presumed gene triplication. The domain is found in a variety of molecules serving diverse functions such as enzymatic activity, inhibitory toxicity and signal transduction. Highly specific...; cd00161" /db_xref="CDD:238092" Region 274..402 /region_name="Ricin_B_lectin" /note="Ricin-type beta-trefoil lectin domain; pfam00652" /db_xref="CDD:279046" Site order(287,301,303,311..312,333,342,344,356..357,377,389, 391,400) /site_type="other" /note="putative sugar binding sites [chemical binding]" /db_xref="CDD:238092" Site order(312..314,357..359,400..402) /site_type="other" /note="Q-X-W motif" /db_xref="CDD:238092" CDS 1..406 /gene="POC1B-GALNT4" /gene_synonym="GalNAc-T4; GALNT4" /coded_by="NM_001199782.1:108..1328" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:100528030" /db_xref="HGNC:HGNC:42957" ORIGIN 1 mawcvatadp ahtsrplftg lavsrgsagh awsagfdwaa vvvvtgrrcr sgqtvpgaar 61 spllphplps plrvppptga lgrplprwpq prrtpfwsvi skatklrspp wtsaptasnl 121 erdrrisrid pirsptmagg lfavskkyfq ylgtydtgme vwggenlels frvwqcggkl 181 eihpcshvgh vfpkrapyar pnflqntara aevwmdeyke hfynrnppar keaygdiser 241 kllrerlrck sfdwylknvf pnlhvpedrp gwhgairsrg issecldyns pdnnptganl 301 slfgchgqgg nqffeytsnk eirfnsvtel caevpeqkny vgmqncpkdg fpvpaniiwh 361 fkedgtifhp hsglclsayr tpegrpdvqm rtcdaldknq iwsfek // LOCUS NP_001269628 131 aa linear PRI 01-SEP-2020 DEFINITION protein FAM107B isoform a [Homo sapiens]. ACCESSION NP_001269628 XP_005252677 VERSION NP_001269628.1 DBSOURCE REFSEQ: accession NM_001282699.1 KEYWORDS RefSeq. SOURCE Homo 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 Guo J, Bian Y, Wang Y, Chen L, Yu A and Sun X. TITLE FAM107B is regulated by S100A4 and mediates the effect of S100A4 on the proliferation and migration of MGC803 gastric cancer cells JOURNAL Cell Biol. Int. 41 (10), 1103-1109 (2017) PUBMED 28675500 REMARK GeneRIF: Authors first provide experimental evidence suggesting that FAM107B was downregulated by S100A4 in gastric cancer MGC803 cells. And FAM107B at least partially mediates the biological effect of S100A4 in the cells. REFERENCE 2 (residues 1 to 131) AUTHORS Patel YM, Stram DO, Wilkens LR, Park SS, Henderson BE, Le Marchand L, Haiman CA and Murphy SE. TITLE The contribution of common genetic variation to nicotine and cotinine glucuronidation in multiple ethnic/racial populations JOURNAL Cancer Epidemiol. Biomarkers Prev. 24 (1), 119-127 (2015) PUBMED 25293881 REFERENCE 3 (residues 1 to 131) AUTHORS Nakajima H, Koizumi K, Tanaka T, Ishigaki Y, Yoshitake Y, Yonekura H, Sakuma T, Fukushima T, Umehara H, Ueno S, Minamoto T and Motoo Y. TITLE Loss of HITS (FAM107B) expression in cancers of multiple organs: tissue microarray analysis JOURNAL Int. J. Oncol. 41 (4), 1347-1357 (2012) PUBMED 22825356 REMARK GeneRIF: These results show that loss of HITS (FAM107B) expression is a common phenomenon observed in cancers of distinct organs and involved in tumor development and proliferation. REFERENCE 4 (residues 1 to 131) 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 131) 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 131) 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 7 (residues 1 to 131) 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 AK289959.1, DC327230.1, DA390740.1 and AL136885.1. On Sep 18, 2013 this sequence version replaced XP_005252677.1. Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1 and 3 through 10 encode the same isoform (a). ##Evidence-Data-START## Transcript exon combination :: SRR1660809.47860.1, SRR1803615.123018.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMN01820699 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..131 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10p13" Protein 1..131 /product="protein FAM107B isoform a" /note="protein FAM107B; heat shock-inducible tumor small protein; FAM107B/CDNF fusion" /calculated_mol_wt=15427 Site 2 /site_type="acetylation" /note="N-acetylalanine. /evidence=ECO:0000244|PubMed:19413330; propagated from UniProtKB/Swiss-Prot (Q9H098.1)" Region 9..120 /region_name="DUF1151" /note="Protein of unknown function (DUF1151); pfam06625" /db_xref="CDD:369008" Site 50 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q3TGF2; propagated from UniProtKB/Swiss-Prot (Q9H098.1)" CDS 1..131 /gene="FAM107B" /gene_synonym="C10orf45; HITS" /coded_by="NM_001282699.1:484..879" /note="isoform a is encoded by transcript variant 6" /db_xref="CCDS:CCDS60486.1" /db_xref="GeneID:83641" /db_xref="HGNC:HGNC:23726" ORIGIN 1 maepdyiedd npelirpqkl inpvktsrnh qdlhrellmn qkrglapqnk pelqkvmekr 61 krdqvikqke eeaqkkksdl eiellkrqqk leqlelekqk lqeeqenape fvkvkgnlrr 121 tgqevaqaqe s // LOCUS NP_060948 259 aa linear PRI 01-SEP-2020 DEFINITION dysbindin domain-containing protein 2 isoform e [Homo sapiens]. ACCESSION NP_060948 VERSION NP_060948.3 DBSOURCE REFSEQ: accession NM_018478.3 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 259) 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 2 (residues 1 to 259) 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 259) AUTHORS Yin H, Laguna KA, Li G and Kuret J. TITLE Dysbindin structural homologue CK1BP is an isoform-selective binding partner of human casein kinase-1 JOURNAL Biochemistry 45 (16), 5297-5308 (2006) PUBMED 16618118 REMARK GeneRIF: CK1BP is an isoform-selective binding partner of human casein kinase-1 REFERENCE 4 (residues 1 to 259) 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 259) AUTHORS Lucas T, Pratscher B, Fink D, Wolschek M, Samorapoompichit P, Schofer C, Pehamberger H, Muller M, Sorensen P and Jansen B. TITLE The human orthologue of a novel apoptosis response gene induced during rat myelomonocytic stem cell apoptosis maps to 20q13.12 JOURNAL Stem Cells Dev. 14 (5), 556-563 (2005) PUBMED 16305340 REFERENCE 6 (residues 1 to 259) 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 AF220191.1, AL021578.4 and AW516035.1. On Oct 7, 2010 this sequence version replaced NP_060948.2. Transcript Variant: This variant (9) differs in the 5' UTR and 5' coding region, and uses an alternate start codon, compared to variant 1. The encoded isoform (e) has a distinct and longer N-terminus, compared to isoform a. ##Evidence-Data-START## Transcript exon combination :: AF220191.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..259 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20q13.12" Protein 1..259 /product="dysbindin domain-containing protein 2 isoform e" /note="SCF apoptosis response protein 1; dysbindin (dystrobrevin binding protein 1) domain containing 2; casein kinase-1 binding protein" /calculated_mol_wt=27540 Region 110..255 /region_name="Dysbindin" /note="Dysbindin (Dystrobrevin binding protein 1); pfam04440" /db_xref="CDD:282316" Site 217 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9CRD4; propagated from UniProtKB/Swiss-Prot (Q9BQY9.3)" Site 218 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9CRD4; propagated from UniProtKB/Swiss-Prot (Q9BQY9.3)" Site 237 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000250|UniProtKB:Q9CRD4; propagated from UniProtKB/Swiss-Prot (Q9BQY9.3)" Site 242 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9CRD4; propagated from UniProtKB/Swiss-Prot (Q9BQY9.3)" CDS 1..259 /gene="DBNDD2" /gene_synonym="C20orf35; CK1BP; HSMNP1" /coded_by="NM_018478.3:232..1011" /note="isoform e is encoded by transcript variant 9" /db_xref="CCDS:CCDS56193.1" /db_xref="GeneID:55861" /db_xref="HGNC:HGNC:15881" /db_xref="MIM:611453" ORIGIN 1 mgagnfltal evpvaalaga asdrrascer vspppplphf rlpplprsrl pgpvsrpepg 61 apllgcwlqw gapspgplcl lfrlcsctcf aplpagadmd pnpraalerq qlrlrerqkf 121 fedilqpete fvfplshlhl esqrppigsi ssmevnvdtl eqvelidlgd pdaadvflpc 181 edppptpqss gmdnhleels lpvptsdrtt srtssssssd sstnlhspnp sddgadtpla 241 qsdeeeergd ggaepgacs // LOCUS NP_001265486 421 aa linear PRI 01-SEP-2020 DEFINITION WD repeat and SOCS box-containing protein 2 isoform 1 [Homo sapiens]. ACCESSION NP_001265486 VERSION NP_001265486.1 DBSOURCE REFSEQ: accession NM_001278557.1 KEYWORDS RefSeq. SOURCE Homo 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 Zhang Y, Li Z, Zhao W, Hu H, Zhao L, Zhu Y, Yang X, Gao B, Yang H, Huang Y and Song X. TITLE WD repeat and SOCS box containing protein 2 in the proliferation, cycle progression, and migration of melanoma cells JOURNAL Biomed. Pharmacother. 116, 108974 (2019) PUBMED 31103822 REMARK GeneRIF: This is the first report to demonstrate the effects of WSB2 on melanoma cell function. REFERENCE 2 (residues 1 to 421) AUTHORS Nara H, Onoda T, Rahman M, Araki A, Juliana FM, Tanaka N and Asao H. TITLE Regulation of interleukin-21 receptor expression and its signal transduction by WSB-2 JOURNAL Biochem. Biophys. Res. Commun. 392 (2), 171-177 (2010) PUBMED 20059963 REMARK GeneRIF: This report provides the first evidence that WSB-2 is a regulator of IL-21R expression and IL-21-induced signal transduction. REFERENCE 3 (residues 1 to 421) 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 4 (residues 1 to 421) AUTHORS Li XG, Song JD and Wang YQ. TITLE Differential expression of a novel colorectal cancer differentiation-related gene in colorectal cancer JOURNAL World J. Gastroenterol. 7 (4), 551-554 (2001) PUBMED 11819827 REMARK GeneRIF: SBA2 gene might be a promising novel biomarker of cell differentiation in colorectal cancer and its biological features need further studies. COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK295555.1, AF229181.1, AC131159.5 and CA443120.1. Summary: This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]. Transcript Variant: This variant (1) encodes the longest isoform (1). ##Evidence-Data-START## Transcript exon combination :: SRR1803617.141248.1, SRR1803613.69814.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..421 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q24.23" Protein 1..421 /product="WD repeat and SOCS box-containing protein 2 isoform 1" /note="WSB-2; CS box-containing WD protein; WD repeat and SOCS box-containing protein 2" /calculated_mol_wt=47056 Region 46..106 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 47..384 /region_name="WD40" /note="WD40 repeat [General function prediction only]; COG2319" /db_xref="CDD:225201" Region 138..377 /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(145,149,155..156,168..169,188,192,198..199,212..213, 230,235,241..242,255,272,277,283..284,296,309,327,331, 337..338,349..350,366,371,377) /site_type="other" /note="structural tetrad" /db_xref="CDD:238121" Region 174..212 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 217..253 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 261..306 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 313..345 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 353..389 /region_name="WD40 repeat" /note="WD40 repeat [structural motif]" /db_xref="CDD:293791" Region 381..419 /region_name="SOCS_WSB_SWIP" /note="SOCS (suppressors of cytokine signaling) box of WSB/SWiP-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...; cd03733" /db_xref="CDD:239702" Site order(382..387,393,400,406,411) /site_type="other" /note="putative elongin B/C interaction [polypeptide binding]" /db_xref="CDD:239702" CDS 1..421 /gene="WSB2" /gene_synonym="SBA2" /coded_by="NM_001278557.1:13..1278" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS61252.1" /db_xref="GeneID:55884" /db_xref="HGNC:HGNC:19222" ORIGIN 1 mrvdresrfl rgtgtgeava veeplllael kpgrphqfdw ksscetwsva fspdgswfaw 61 sqghcivkli pwpleeqfip kgfeaksrss knetkgrgsp kektldcgqi vwglafspwp 121 sppsrklwar hhpqvpdvsc lvlatglndg qikiwevqtg llllnlsghq dvvrdlsftp 181 sgslilvsas rdktlriwdl nkhgkqiqvl sghlqwvycc sispdcsmlc saageksvfl 241 wsmrsytlir kleghqssvv scdfspdsal lvtasydtnv imwdpytger lrslhhtqvd 301 pamddsdvhi sslrsvcfsp eglylatvad drllriwale lktpiafapm tnglcctffp 361 hggviatgtr dghvqfwtap rvlsslkhlc rkalrsfltt yqvlalpipk kmkefltyrt 421 f // LOCUS NP_997263 534 aa linear PRI 01-SEP-2020 DEFINITION coiled-coil domain-containing protein 9B [Homo sapiens]. ACCESSION NP_997263 VERSION NP_997263.2 DBSOURCE REFSEQ: accession NM_207380.2 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 534) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA106198.1, AK125329.1, AK124643.1, DA892533.1, BM716672.1, BQ690903.1 and BU618720.1. On Aug 10, 2007 this sequence version replaced NP_997263.1. ##Evidence-Data-START## Transcript exon combination :: AK125329.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [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..534 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q15.1" Protein 1..534 /product="coiled-coil domain-containing protein 9B" /note="uncharacterized protein C15orf52" /calculated_mol_wt=57194 Region 183..348 /region_name="DUF4594" /note="Domain of unknown function (DUF4594); pfam15266" /db_xref="CDD:291918" Site 201 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163, ECO:0000244|PubMed:24275569; propagated from UniProtKB/Swiss-Prot (Q6ZUT6.1)" Site 392 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:17081983; propagated from UniProtKB/Swiss-Prot (Q6ZUT6.1)" CDS 1..534 /gene="CCDC9B" /gene_synonym="C15orf52" /coded_by="NM_207380.2:17..1621" /db_xref="CCDS:CCDS10055.2" /db_xref="GeneID:388115" /db_xref="HGNC:HGNC:33488" ORIGIN 1 miscaeqrsr qgeagrgpap vapaflplwl prgcsgilsv pavamhsagt praespmsrq 61 ekdaeldrri valrkknqal lrryqeiqed rrqaeqggma vttpallqpd gltvtisqvp 121 gekrvvsrnw argtcgprvt nemlededae dhggtfclge lvelavtmen kaegkrivse 181 kptrarnqgi egspggrvtr spptqvaiss dsarkgswep wsrpvgeppe agwdyaqwkq 241 ereqidlarl arhrdaqgdw rrpwdldkak stlqdcsqlr gegparagsr rgprshqklq 301 pppllpdgkg rggqasrpsv apatgskarg kerltgrarr wdmkedkeel egqegsqstr 361 etpseeeqaq kqsgmeqgrl gsapaaspal aspegpkges vastassvpc spqepdlapl 421 dlslggagip gpresgcvlg lrpgaqespv swpegskqqp lgwsnhqael evqtcpepqr 481 gaglpepged rsgksgaqqg laprsrptrg gsqrsrgtag vrrrtgrpgp agrc // LOCUS NP_647603 336 aa linear PRI 01-SEP-2020 DEFINITION TATA box-binding protein-associated factor RNA polymerase I subunit A isoform 2 [Homo sapiens]. ACCESSION NP_647603 VERSION NP_647603.1 DBSOURCE REFSEQ: accession NM_139352.2 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 336) AUTHORS Muller C, Bremer A, Schreiber S, Eichwald S and Calkhoven CF. TITLE Nucleolar retention of a translational C/EBPalpha isoform stimulates rDNA transcription and cell size JOURNAL EMBO J. 29 (5), 897-909 (2010) PUBMED 20075868 REFERENCE 3 (residues 1 to 336) AUTHORS Greco-Stewart VS, Schissel E and Pelchat M. TITLE The hepatitis delta virus RNA genome interacts with the human RNA polymerases I and III JOURNAL Virology 386 (1), 12-15 (2009) PUBMED 19246067 REMARK GeneRIF: The authors demonstrate the interaction of both RNA polymerase I and III with hepatitis delta virus RNA, both in vitro and in human cells. REFERENCE 4 (residues 1 to 336) AUTHORS Gorski JJ, Pathak S, Panov K, Kasciukovic T, Panova T, Russell J and Zomerdijk JC. TITLE A novel TBP-associated factor of SL1 functions in RNA polymerase I transcription JOURNAL EMBO J. 26 (6), 1560-1568 (2007) PUBMED 17318177 REFERENCE 5 (residues 1 to 336) AUTHORS Miller G, Panov KI, Friedrich JK, Trinkle-Mulcahy L, Lamond AI and Zomerdijk JC. TITLE hRRN3 is essential in the SL1-mediated recruitment of RNA Polymerase I to rRNA gene promoters JOURNAL EMBO J. 20 (6), 1373-1382 (2001) PUBMED 11250903 REFERENCE 6 (residues 1 to 336) AUTHORS Muth V, Nadaud S, Grummt I and Voit R. TITLE Acetylation of TAF(I)68, a subunit of TIF-IB/SL1, activates RNA polymerase I transcription JOURNAL EMBO J. 20 (6), 1353-1362 (2001) PUBMED 11250901 REFERENCE 7 (residues 1 to 336) AUTHORS Zhai W and Comai L. TITLE Repression of RNA polymerase I transcription by the tumor suppressor p53 JOURNAL Mol. Cell. Biol. 20 (16), 5930-5938 (2000) PUBMED 10913176 REFERENCE 8 (residues 1 to 336) AUTHORS Di Pietro C, Rapisarda A, Amico V, Bonaiuto C, Viola A, Scalia M, Motta S, Amato A, Engel H, Messina A, Sichel G, Grzeschik K and Purrello M. TITLE Genomic localization of the human genes TAF1A, TAF1B and TAF1C, encoding TAF(I)48, TAF(I)63 and TAF(I)110 subunits of class I general transcription initiation factor SL1 JOURNAL Cytogenet. Cell Genet. 89 (1-2), 133-136 (2000) PUBMED 10894955 REFERENCE 9 (residues 1 to 336) AUTHORS Comai L, Zomerdijk JC, Beckmann H, Zhou S, Admon A and Tjian R. TITLE Reconstitution of transcription factor SL1: exclusive binding of TBP by SL1 or TFIID subunits JOURNAL Science 266 (5193), 1966-1972 (1994) PUBMED 7801123 REFERENCE 10 (residues 1 to 336) AUTHORS Rudloff U, Eberhard D, Tora L, Stunnenberg H and Grummt I. TITLE TBP-associated factors interact with DNA and govern species specificity of RNA polymerase I transcription JOURNAL EMBO J. 13 (11), 2611-2616 (1994) PUBMED 8013460 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK299536.1, AL592148.7 and AK001054.1. Summary: This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing results in multiple transcript variants encoding multiple isoforms.[provided by RefSeq, Jan 2011]. Transcript Variant: This variant (2) differs in the 3' UTR and lacks an in-frame exon in the 5' coding region, compared to variant 1. These differences causes translation initiation at a downstream AUG and result in isoform (2) 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK001054.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..336 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1q41" Protein 1..336 /product="TATA box-binding protein-associated factor RNA polymerase I subunit A isoform 2" /note="SL1, 48kD subunit; TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa; TBP-associated factor 1A; transcription factor SL1; TATA box-binding protein-associated factor 1A; transcription initiation factor SL1/TIF-IB subunit A; RNA polymerase I-specific TBP-associated factor 48 kDa; TATA-box binding protein associated factor, RNA polymerase I, A" /calculated_mol_wt=39484 Region <2..329 /region_name="TAF1_subA" /note="TAF RNA Polymerase I subunit A; pfam14929" /db_xref="CDD:291590" CDS 1..336 /gene="TAF1A" /gene_synonym="MGC:17061; RAFI48; SL1; TAFI48" /coded_by="NM_139352.2:382..1392" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS1532.1" /db_xref="GeneID:9015" /db_xref="HGNC:HGNC:11532" /db_xref="MIM:604903" ORIGIN 1 mesfntfanr mknigvmnyl kislqhalyl lhhgmlkdak rnlseaetwr hgentssrei 61 linliqaykg llqyytwsek kmelskldkd dyaynavaqd vfnhswktsa nisalikipg 121 vwdpfvksyv emlefygdrd gaqevltnya ydekfpsnpn ahiylynflk rqkaprskli 181 svlkilyqiv pshklmlefh tllrksekee hrklglevlf gvldfagctk nitawkylak 241 ylknilmgnh lawvqeewns rknwwpgfhf syfwaksdwk edtalaceka fvaglllgkg 301 cryfryilkq dhqilgkkik rmkrsvkkys ivnprl // LOCUS NP_001138586 1236 aa linear PRI 01-SEP-2020 DEFINITION RRP12-like protein isoform 2 [Homo sapiens]. ACCESSION NP_001138586 VERSION NP_001138586.1 DBSOURCE REFSEQ: accession NM_001145114.1 KEYWORDS RefSeq. SOURCE Homo 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 Ameismeier M, Cheng J, Berninghausen O and Beckmann R. TITLE Visualizing late states of human 40S ribosomal subunit maturation JOURNAL Nature 558 (7709), 249-253 (2018) PUBMED 29875412 REFERENCE 2 (residues 1 to 1236) AUTHORS Choi YJ, Lee HW, Lee YS, Shim da M and Seo SW. TITLE RRP12 is a crucial nucleolar protein that regulates p53 activity in osteosarcoma cells JOURNAL Tumour Biol. 37 (4), 4351-4358 (2016) PUBMED 26499779 REMARK GeneRIF: This study demonstrated that RRP12 was crucial for cell survival during cytotoxic stress via the repression of p53 stability. Thus, targeting RRP12 may enhance chemotherapeutic effect in cancers REFERENCE 3 (residues 1 to 1236) 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 1236) 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 1236) 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 1236) 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 1236) 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 8 (residues 1 to 1236) 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 1236) 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 1236) 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 AL355490.24, AK296315.1, BC012745.2 and AK022496.1. Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 5' 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 :: AK296315.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1236 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="10" /map="10q24.1" Protein 1..1236 /product="RRP12-like protein isoform 2" /note="RRP12-like protein" /calculated_mol_wt=136984 Region 411..608 /region_name="NUC173" /note="NUC173 domain; pfam08161" /db_xref="CDD:285386" CDS 1..1236 /gene="RRP12" /gene_synonym="KIAA0690" /coded_by="NM_001145114.1:140..3850" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS44467.1" /db_xref="GeneID:23223" /db_xref="HGNC:HGNC:29100" /db_xref="MIM:617723" ORIGIN 1 mgrsgklpsg vsaklkrwkk ghssdsnpai crhrqaarsr ffsrpsgrsd ltvdavklhn 61 elqsgslrlg kseapetpme eeaelvltek ssgtflsgls dctnvtfskv qrfwesnsaa 121 hkeicavlaa vtevirsqgg keteteyfaa lvlsclatll rkqdleawgy pvtlqvyhgl 181 lsftvhpkpk irkaaqhgvc svlkgsefmf ekapahhpaa istakfciqe ieksggskea 241 tttlhmltll kdllpcfpeg lvkscsetll rvmtlshvlv tacamqafhs lfharpglst 301 lsaelnaqii talydyvpse ndlqpllawl kvmekahinl vrlqwdlglg hlprffgtav 361 tcllsphsqv ltaatqslke ilkecvaphm adigsvtssa sgpaqsvakm fraveeglty 421 kfhaawssvl qllcvffeac grqahpvmrk clqslcdlrl sphfphtaal dqavgaavts 481 mgpevvlqav pleidgseet ldfprswllp virdhvqetr lgffttyflp lantlkskam 541 dlaqagstve skiydtlqwq mwtllpgfct rptdvaisfk glartlgmai serpdlrvtv 601 cqalrtlitk gcqaeadrae vsrfaknflp ilfnlygqpv aagdtpaprr avletirtyl 661 titdtqlvns llekasekvl dpassdftrl svldlvvala pcadeaaisk lystirpyle 721 skahgvqkka yrvleevcas pqgpgalfvq shledlkktl ldslrstssp akrprlkcll 781 hivrklsaeh kefitalipe vilctkevsv garknafall vemghaflrf gsnqeealqc 841 ylvliypglv gavtmvscsi lalthllfef kglmgtstve qllenvclll asrtrdvvks 901 algfikvavt vmdvahlakh vqlvmeaigk lsddmrrhfr mklrnlftkf irkfgfelvk 961 rllpeeyhrv lvnirkaear akrhralsqa aveeeeeeee eeepaqgkgd sieeiladse 1021 deedneeeer srgkeqrkla rqrsrawlke gggdeplnfl dpkvaqrvla tqpgpgrgrk 1081 kdhgfkvsad grliireead gnkmeeeega kgedeemadp medviirnkk hqklkhqkea 1141 eeeeleippq yqaggsgihr pvakkampga eykakkakgd vkkkgrpdpy ayiplnrskl 1201 nrrkkmklqg qfkglvkaar rgsqvghknr rkdrrp // LOCUS NP_002137 431 aa linear PRI 01-SEP-2020 DEFINITION homeobox protein Hox-B3 isoform 1 [Homo sapiens]. ACCESSION NP_002137 VERSION NP_002137.4 DBSOURCE REFSEQ: accession NM_002146.4 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 431) AUTHORS Miller KR, Patel JN, Zhang Q, Norris EJ, Symanowski J, Michener C, Sehouli J, Braicu I, Destephanis DD, Sutker AP, Jones W, Livasy CA, Biscotti C, Ganapathi RN, Tait DL and Ganapathi MK. TITLE HOXA4/HOXB3 gene expression signature as a biomarker of recurrence in patients with high-grade serous ovarian cancer following primary cytoreductive surgery and first-line adjuvant chemotherapy JOURNAL Gynecol. Oncol. 149 (1), 155-162 (2018) PUBMED 29402501 REMARK GeneRIF: HOXA4/HOXB3 gene expression-based risk score may be useful for prognostic risk stratification and warrants prospective validation in HGSOC patients. REFERENCE 2 (residues 1 to 431) AUTHORS Bi L, Zhou B, Li H, He L, Wang C, Wang Z, Zhu L, Chen M and Gao S. TITLE A novel miR-375-HOXB3-CDCA3/DNMT3B regulatory circuitry contributes to leukemogenesis in acute myeloid leukemia JOURNAL BMC Cancer 18 (1), 182 (2018) PUBMED 29439669 REMARK GeneRIF: Data indicate a miR-375-HOXB3-CDCA3/DNMT3B regulatory circuitry which contributes to leukemogenesis and suggest a therapeutic strategy of restoring miR-375 expression in Acute myeloid leukemia (AML). Publication Status: Online-Only REFERENCE 3 (residues 1 to 431) AUTHORS Fu H, Fu L, Xie C, Zuo WS, Liu YS, Zheng MZ and Yu JM. TITLE miR-375 inhibits cancer stem cell phenotype and tamoxifen resistance by degrading HOXB3 in human ER-positive breast cancer JOURNAL Oncol. Rep. 37 (2), 1093-1099 (2017) PUBMED 28075453 REMARK GeneRIF: HOXB3 is degraded by miR-375 in breast cancer cells.HOXB3 plays role in tamoxifen resistance. REFERENCE 4 (residues 1 to 431) AUTHORS Chen H, Fan Y, Xu W, Chen J, Xu C, Wei X, Fang D and Feng Y. TITLE miR-10b Inhibits Apoptosis and Promotes Proliferation and Invasion of Endometrial Cancer Cells via Targeting HOXB3 JOURNAL Cancer Biother. Radiopharm. 31 (6), 225-231 (2016) PUBMED 27447302 REMARK GeneRIF: miR-10b might control cell apoptosis, proliferation, migration, and invasion in endometrial cancer via regulation of HOXB3 expression. REFERENCE 5 (residues 1 to 431) AUTHORS Lindblad O, Chougule RA, Moharram SA, Kabir NN, Sun J, Kazi JU and Ronnstrand L. TITLE The role of HOXB2 and HOXB3 in acute myeloid leukemia JOURNAL Biochem. Biophys. Res. Commun. 467 (4), 742-747 (2015) PUBMED 26482852 REMARK GeneRIF: HOXB2 and HOXB3 act as tumor suppressors in acute myeloid leukemia patients carrying the FLT3 protein mutations. REFERENCE 6 (residues 1 to 431) AUTHORS Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF and Dutrillaux B. TITLE Fine mapping of human HOX gene clusters JOURNAL Cytogenet. Cell Genet. 73 (1-2), 114-115 (1996) PUBMED 8646877 REFERENCE 7 (residues 1 to 431) AUTHORS Guazzi S, Lonigro R, Pintonello L, Boncinelli E, Di Lauro R and Mavilio F. TITLE The thyroid transcription factor-1 gene is a candidate target for regulation by Hox proteins JOURNAL EMBO J. 13 (14), 3339-3347 (1994) PUBMED 7913891 REFERENCE 8 (residues 1 to 431) AUTHORS Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A and Boncinelli E. TITLE The human HOX gene family JOURNAL Nucleic Acids Res. 17 (24), 10385-10402 (1989) PUBMED 2574852 REFERENCE 9 (residues 1 to 431) AUTHORS Giampaolo A, Acampora D, Zappavigna V, Pannese M, D'Esposito M, Care A, Faiella A, Stornaiuolo A, Russo G, Simeone A et al. TITLE Differential expression of human HOX-2 genes along the anterior-posterior axis in embryonic central nervous system JOURNAL Differentiation 40 (3), 191-197 (1989) PUBMED 2570724 REFERENCE 10 (residues 1 to 431) AUTHORS Boncinelli E, Acampora D, Pannese M, D'Esposito M, Somma R, Gaudino G, Stornaiuolo A, Cafiero M, Faiella A and Simeone A. TITLE Organization of human class I homeobox genes JOURNAL Genome 31 (2), 745-756 (1989) PUBMED 2576652 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA735249.1, CN358294.1, AK027609.1, X16667.1, AC103702.3 and AI633956.1. On Jan 6, 2006 this sequence version replaced NP_002137.3. Summary: This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML). [provided by RefSeq, Jul 2008]. 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). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK027609.1, X16667.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..431 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q21.32" Protein 1..431 /product="homeobox protein Hox-B3 isoform 1" /note="homeo box 2G; homeobox protein Hox-2G; homeobox protein Hox-2.7; homeobox protein Hox-B3" /calculated_mol_wt=44209 Region 129..134 /region_name="Antp-type hexapeptide" /note="propagated from UniProtKB/Swiss-Prot (P14651.2)" Site order(189..193,195,212,218,231,233..234,237..238,240..242, 244..245) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Site order(191,194,234,237..238,241) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" Region 192..244 /region_name="Homeobox" /note="Homeobox domain; pfam00046" /db_xref="CDD:306543" Region 366..429 /region_name="DUF4074" /note="Domain of unknown function (DUF4074); pfam13293" /db_xref="CDD:315871" CDS 1..431 /gene="HOXB3" /gene_synonym="Hox-2.7; HOX2; HOX2G" /coded_by="NM_002146.4:859..2154" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS11528.1" /db_xref="GeneID:3213" /db_xref="HGNC:HGNC:5114" /db_xref="MIM:142966" ORIGIN 1 mqkatyydna aaalfggyss ypgsngfgfd vppqppfqaa thlegdyqrs acslqslgna 61 aphakskeln gscmrpglap eplsappgsp ppsaaptsat snssngggps ksgppkcgpg 121 tnstltkqif pwmkesrqts klknnspgta egcggggggg ggggsggsgg ggggggggdk 181 sppgsaaskr artaytsaql velekefhfn rylcrprrve manllnlser qikiwfqnrr 241 mkykkdqkak glasssggps pagsppqpmq stagfmnalh smtpsyesps ppafgkahqn 301 ayalpsnyqp plkgcgapqk ypptpapeye phvlqangga ygtptmqgsp vyvggggyad 361 plpppagpsl yglnhlshhp sgnldyngap pmapsqhhgp cephptytdl sshhapppqg 421 riqeapklth l // LOCUS NP_001248773 383 aa linear PRI 01-SEP-2020 DEFINITION protein TESPA1 isoform 2 [Homo sapiens]. ACCESSION NP_001248773 VERSION NP_001248773.1 DBSOURCE REFSEQ: accession NM_001261844.1 KEYWORDS RefSeq. SOURCE Homo 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 Lyu J, Wang P, Xu T, Shen Y, Cui Z, Zheng M, Fu G and Lu L. TITLE Thymic-specific regulation of TCR signaling by Tespa1 JOURNAL Cell. Mol. Immunol. 16 (12), 897-907 (2019) PUBMED 31316154 REMARK GeneRIF: Thymic-specific regulation of TCR signaling by Tespa1. REFERENCE 2 (residues 1 to 383) AUTHORS Liang J, Lyu J, Zhao M, Li D, Zheng M, Fang Y, Zhao F, Lou J, Guo C, Wang L, Wang D, Liu W and Lu L. TITLE Tespa1 regulates T cell receptor-induced calcium signals by recruiting inositol 1,4,5-trisphosphate receptors JOURNAL Nat Commun 8, 15732 (2017) PUBMED 28598420 REMARK GeneRIF: Tespa1 functions in T cell development and the regulation of TCR-induced Ca(2+) signalling through IP3R1 Erratum:[Nat Commun. 2018 Mar 12;9:16183. PMID: 29528040] Publication Status: Online-Only REFERENCE 3 (residues 1 to 383) AUTHORS Yao Y, Zhang H, Shao S, Cui G, Zhang T and Sun H. TITLE Tespa1 is associated with susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China JOURNAL Clin. Rheumatol. 34 (4), 665-671 (2015) PUBMED 25736038 REMARK GeneRIF: Tespa1 hay have a role in susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China REFERENCE 4 (residues 1 to 383) AUTHORS Liu S, Liu L, Wu S, Yang T, Pan F, Laslett L, Xia G, Hu Y, Fan D, Ding N, Xu S, Cai G, Wang L and Xin L. TITLE Lack of association between TESPA1 gene polymorphisms (rs1801876, rs2171497, rs4758994, and rs997173) and ankylosing spondylitis in a Chinese population JOURNAL Inflammation 37 (6), 2040-2046 (2014) PUBMED 24893580 REMARK GeneRIF: The TESPA1 gene was found to not be involved in ankylosing spondylitis in a Chinese population. REFERENCE 5 (residues 1 to 383) AUTHORS Fujimoto T, Matsuzaki H, Tanaka M and Shirasawa S. TITLE Tespa1 protein is phosphorylated in response to store-operated calcium entry JOURNAL Biochem. Biophys. Res. Commun. 434 (1), 162-165 (2013) PUBMED 23541577 REMARK GeneRIF: Tespa1 is post-translationally modified upon intracellular divalent calcium-ion Ca2+ increase in thymocytes. REFERENCE 6 (residues 1 to 383) AUTHORS Matsuzaki H, Fujimoto T, Tanaka M and Shirasawa S. TITLE Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux JOURNAL Biochem. Biophys. Res. Commun. 433 (3), 322-326 (2013) PUBMED 23501103 REMARK GeneRIF: Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux. REFERENCE 7 (residues 1 to 383) AUTHORS Wang D, Zheng M, Lei L, Ji J, Yao Y, Qiu Y, Ma L, Lou J, Ouyang C, Zhang X, He Y, Chi J, Wang L, Kuang Y, Wang J, Cao X and Lu L. TITLE Tespa1 is involved in late thymocyte development through the regulation of TCR-mediated signaling JOURNAL Nat. Immunol. 13 (6), 560-568 (2012) PUBMED 22561606 REMARK Publication Status: Online-Only REFERENCE 8 (residues 1 to 383) 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) COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB018291.1, AK315972.1 and AC079842.19. Transcript Variant: This variant (4), as well as variants 3 and 5, encodes 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 :: SRR1660807.152875.1, SRR1803614.120558.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..383 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q13.2" Protein 1..383 /product="protein TESPA1 isoform 2" /note="thymocyte-expressed positive selection-associated protein 1; protein TESPA1" /calculated_mol_wt=43844 Region 2..148 /region_name="KRAP_IP3R_bind" /note="Ki-ras-induced actin-interacting protein-IP3R-interacting domain; pfam14722" /db_xref="CDD:317165" CDS 1..383 /gene="TESPA1" /gene_synonym="HSPC257; ITPRID3; KIAA0748" /coded_by="NM_001261844.1:374..1525" /note="isoform 2 is encoded by transcript variant 4" /db_xref="CCDS:CCDS58240.1" /db_xref="GeneID:9840" /db_xref="HGNC:HGNC:29109" /db_xref="MIM:615664" ORIGIN 1 mtggtnktss siseildkvq edaedvlfsl gfgqedhkdt sriparfftt psqakgidfq 61 lflksqvrri emedpclmla srfkqvqtla vtadaffcly syvsktpvqk ftpshmfwnc 121 nhptdvpsir ilsrepepqs prdrlrkais kmclytcprd rpppphntpk rnsldqvvle 181 vmdkvkeekq flqqdsdlgq fsqedpvppa egkklptspy pcvfcceeet qqrmstvlap 241 sqtldsnpkv pccthslpie dpqwstdpaq irrelcslpa tntethpakd etfwkrksra 301 rkslfqknlm grkvksldls itqqkwkqsv drpelrrsls qqpqdtfdle evqsnseeeq 361 sqsrwpsrpr hphhhqtfag kds // LOCUS NP_783851 333 aa linear PRI 01-SEP-2020 DEFINITION interleukin-5 receptor subunit alpha isoform 2 precursor [Homo sapiens]. ACCESSION NP_783851 VERSION NP_783851.1 DBSOURCE REFSEQ: accession NM_175724.2 KEYWORDS RefSeq. SOURCE Homo 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 Gorski SA, Lawrence MG, Hinkelman A, Spano MM, Steinke JW, Borish L, Teague WG and Braciale TJ. TITLE Expression of IL-5 receptor alpha by murine and human lung neutrophils JOURNAL PLoS ONE 14 (8), e0221113 (2019) PUBMED 31415658 REMARK GeneRIF: Expression of IL-5 receptor alpha by murine and human lung neutrophils. Publication Status: Online-Only REFERENCE 2 (residues 1 to 333) AUTHORS van Rensburg IC, Wagman C, Stanley K, Beltran C, Ronacher K, Walzl G and Loxton AG. TITLE Successful TB treatment induces B-cells expressing FASL and IL5RA mRNA JOURNAL Oncotarget 8 (2), 2037-2043 (2017) PUBMED 27682872 REMARK GeneRIF: Increased activation of B-cells is present following successful Tuberculosis treatment, and the expression of FASLG and IL5RA could potentially be utilized as a signature to monitor treatment response. REFERENCE 3 (residues 1 to 333) AUTHORS Varricchi G, Bagnasco D, Borriello F, Heffler E and Canonica GW. TITLE Interleukin-5 pathway inhibition in the treatment of eosinophilic respiratory disorders: evidence and unmet needs JOURNAL Curr Opin Allergy Clin Immunol 16 (2), 186-200 (2016) PUBMED 26859368 REMARK GeneRIF: Interleukin-5Ralpha-targeted treatments offer promises to patients with eosinophilic respiratory disorders; review Review article REFERENCE 4 (residues 1 to 333) AUTHORS Miyake Y, Tanaka K and Arakawa M. TITLE IL5RA polymorphisms, smoking and eczema in Japanese women: the Kyushu Okinawa Maternal and Child Health Study JOURNAL Int. J. Immunogenet. 42 (1), 52-57 (2015) PUBMED 25523412 REMARK GeneRIF: This is the first study to show significant associations between IL5RA SNP rs17881144, the ATTAGA haplotype, the GTAGCA haplotype, and the GCTGCA haplotype and eczema. REFERENCE 5 (residues 1 to 333) AUTHORS Miyake Y, Tanaka K and Arakawa M. TITLE Case-control study of rhinoconjunctivitis associated with IL5RA polymorphisms in Japanese women: the Kyushu Okinawa Maternal and Child Health Study JOURNAL Cytokine 65 (2), 138-142 (2014) PUBMED 24332579 REMARK GeneRIF: This is the first study to show significant associations between IL5RA SNP rs6771148, the ACTAGA haplotype, and the GTAGCA haplotype and the risk of rhinoconjunctivitis. REFERENCE 6 (residues 1 to 333) AUTHORS Isobe M, Kumura Y, Murata Y, Takaki S, Tominaga A, Takatsu K and Ogita Z. TITLE Localization of the gene encoding the alpha subunit of human interleukin-5 receptor (IL5RA) to chromosome region 3p24-3p26 JOURNAL Genomics 14 (3), 755-758 (1992) PUBMED 1427903 REFERENCE 7 (residues 1 to 333) AUTHORS Tuypens T, Plaetinck G, Baker E, Sutherland G, Brusselle G, Fiers W, Devos R and Tavernier J. TITLE Organization and chromosomal localization of the human interleukin 5 receptor alpha-chain gene JOURNAL Eur. Cytokine Netw. 3 (5), 451-459 (1992) PUBMED 1477296 REFERENCE 8 (residues 1 to 333) AUTHORS Tavernier J, Tuypens T, Plaetinck G, Verhee A, Fiers W and Devos R. TITLE Molecular basis of the membrane-anchored and two soluble isoforms of the human interleukin 5 receptor alpha subunit JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89 (15), 7041-7045 (1992) PUBMED 1495999 REFERENCE 9 (residues 1 to 333) AUTHORS Murata Y, Takaki S, Migita M, Kikuchi Y, Tominaga A and Takatsu K. TITLE Molecular cloning and expression of the human interleukin 5 receptor JOURNAL J. Exp. Med. 175 (2), 341-351 (1992) PUBMED 1732409 REFERENCE 10 (residues 1 to 333) AUTHORS Tavernier J, Devos R, Cornelis S, Tuypens T, Van der Heyden J, Fiers W and Plaetinck G. TITLE A human high affinity interleukin-5 receptor (IL5R) is composed of an IL5-specific alpha chain and a beta chain shared with the receptor for GM-CSF JOURNAL Cell 66 (6), 1175-1184 (1991) PUBMED 1833065 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB229011.1, BI520196.1, M96651.1, AC024060.6 and X62156.1. Summary: The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]. Transcript Variant: This variant (2) differs in the 3' end region, which leads to a translation frameshift, when compared to variant 1. The resulting isoform (2) has a shorter and distinct 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 :: M96651.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2158188 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..333 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3p26.2" Protein 1..333 /product="interleukin-5 receptor subunit alpha isoform 2 precursor" /note="interleukin 5 receptor, alpha; interleukin 5 receptor type 3; interleukin-5 receptor alpha chain; CD125 antigen; IL-5R subunit alpha; IL-5 receptor subunit alpha" /calculated_mol_wt=35608 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2132 mat_peptide 21..333 /product="interleukin-5 receptor subunit alpha isoform 2" /calculated_mol_wt=35608 Region 25..107 /region_name="FN3" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein 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:304408" Region 129..236 /region_name="IL6Ra-bind" /note="Interleukin-6 receptor alpha chain, binding; pfam09240" /db_xref="CDD:286341" Region 322..326 /region_name="WSXWS motif" CDS 1..333 /gene="IL5RA" /gene_synonym="CD125; CDw125; HSIL5R3; IL5R" /coded_by="NM_175724.2:645..1646" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS46739.1" /db_xref="GeneID:3568" /db_xref="HGNC:HGNC:6017" /db_xref="MIM:147851" ORIGIN 1 miivahvlli llgateilqa dllpdekisl lppvnftikv tglaqvllqw kpnpdqeqrn 61 vnleyqvkin apkeddyetr iteskcvtil hkgfsasvrt ilqndhslla sswasaelha 121 ppgspgtsiv nltcttntte dnysrlrsyq vslhctwlvg tdapedtqyf lyyrygswte 181 ecqeyskdtl grniacwfpr tfilskgrdw lavlvngssk hsairpfdql falhaidqin 241 pplnvtaeie gtrlsiqwek pvsafpihcf dyevkihntr ngylqieklm tnafisiidd 301 lskydvqvra avssmcreag lwsewsqpiy vgk // LOCUS NP_001269446 176 aa linear PRI 01-SEP-2020 DEFINITION bcl-2-like protein 12 isoform 2 [Homo sapiens]. ACCESSION NP_001269446 VERSION NP_001269446.1 DBSOURCE REFSEQ: accession NM_001282517.1 KEYWORDS RefSeq. SOURCE Homo 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 Nikcevic G, Drazilov SS, Djurasevic TK, Tosic N, Kontos CK, Scorilas A and Pavlovic S. TITLE Complex transcriptional regulation of the BCL2L12 gene: Novel, active promoter in K562 cells JOURNAL Gene 750, 144723 (2020) PUBMED 32387119 REMARK GeneRIF: The previously reported active promoter of BCL2L12 gene differs from the one we described in our study. If this novel BCL2L12 promoter is confirmed to be active in other malignancies, transcripts generated from this region could be considered as new cancer-specific biomarkers. The results of the study contribute to the better understanding of the transcriptional regulation of the BCL2L12 gene. REFERENCE 2 (residues 1 to 176) AUTHORS Thapa B, Kc R, Bahniuk M, Schmitke J, Hitt M, Lavasanifar A, Kutsch O, Seol DW and Uludag H. TITLE Breathing New Life into TRAIL for Breast Cancer Therapy: Co-Delivery of pTRAIL and Complementary siRNAs Using Lipopolymers JOURNAL Hum. Gene Ther. 30 (12), 1531-1546 (2019) PUBMED 31547718 REMARK GeneRIF: In this study, we explored co-delivery of a TRAIL expressing plasmid (pTRAIL) and complementary small interfering RNAs (siRNAs) (silencing Bcl2-like 12 [BCL2L12] and superoxide dismutase 1 [SOD1]) to improve the response of breast cancer cells against TRAIL therapy REFERENCE 3 (residues 1 to 176) AUTHORS Giotakis AI, Lazaris AC, Kataki A, Kontos CK and Giotakis EI. TITLE Positive BCL2L12 expression predicts favorable prognosis in patients with laryngeal squamous cell carcinoma JOURNAL Cancer Biomark 25 (2), 141-149 (2019) PUBMED 31104007 REMARK GeneRIF: BCL2L12 protein expression could be used as a favorable prognostic tissue biomarker in patients with primary advanced-stage LSCC. On the contrary, BCL2 and BAX did not correlate with prognosis in patients with primary LSCC. REFERENCE 4 (residues 1 to 176) AUTHORS Kladi-Skandali A, Sideris DC and Scorilas A. TITLE BCL2L12: a multiply spliced gene with independent prognostic significance in breast cancer JOURNAL Clin. Chem. Lab. Med. 57 (2), 276-287 (2018) PUBMED 30325729 REMARK GeneRIF: Increased BCL2L12 v.4 mRNA expression was associated with markers of unfavorable prognosis namely, advanced tumor, ER- (p=0.015)/PR-, Ki-67-positivity and high NPI (Nottingham prognostic index) score REFERENCE 5 (residues 1 to 176) AUTHORS Kontos CK and Scorilas A. TITLE Molecular cloning of novel alternatively spliced variants of BCL2L12, a new member of the BCL2 gene family, and their expression analysis in cancer cells JOURNAL Gene 505 (1), 153-166 (2012) PUBMED 22664385 REMARK GeneRIF: Molecular cloning of novel alternatively spliced variants of BCL2L12, a new member of the BCL2 gene family, and their expression analysis in cancer cells. REFERENCE 6 (residues 1 to 176) AUTHORS Stegh AH and DePinho RA. TITLE Beyond effector caspase inhibition: Bcl2L12 neutralizes p53 signaling in glioblastoma JOURNAL Cell Cycle 10 (1), 33-38 (2011) PUBMED 21200141 REMARK Review article REFERENCE 7 (residues 1 to 176) AUTHORS Mathioudaki K, Scorilas A, Papadokostopoulou A, Xynopoulos D, Arnogianaki N, Agnanti N and Talieri M. TITLE Expression analysis of BCL2L12, a new member of apoptosis-related genes, in colon cancer JOURNAL Biol. Chem. 385 (9), 779-783 (2004) PUBMED 15493871 REMARK GeneRIF: The BCL2L12-A transcript appears to be of importance for colon cancer since its expression is associated with disease progression. REFERENCE 8 (residues 1 to 176) AUTHORS Talieri M, Diamandis EP, Katsaros N, Gourgiotis D and Scorilas A. TITLE Expression of BCL2L12, a new member of apoptosis-related genes, in breast tumors JOURNAL Thromb. Haemost. 89 (6), 1081-1088 (2003) PUBMED 12783122 REMARK GeneRIF: RT-PCR in 70 breast cancer tissues demonstrated that BCL2L12 positive breast tumors are mainly of lower stage (I/II) or grade (I/II) and BCL2L12 expression is positively related to disease-free and overall survival REFERENCE 9 (residues 1 to 176) AUTHORS Hammond PW, Alpin J, Rise CE, Wright M and Kreider BL. TITLE In vitro selection and characterization of Bcl-X(L)-binding proteins from a mix of tissue-specific mRNA display libraries JOURNAL J. Biol. Chem. 276 (24), 20898-20906 (2001) PUBMED 11283018 REFERENCE 10 (residues 1 to 176) AUTHORS Scorilas A, Kyriakopoulou L, Yousef GM, Ashworth LK, Kwamie A and Diamandis EP. TITLE Molecular cloning, physical mapping, and expression analysis of a novel gene, BCL2L12, encoding a proline-rich protein with a highly conserved BH2 domain of the Bcl-2 family JOURNAL Genomics 72 (2), 217-221 (2001) PUBMED 11401436 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC011495.8, BC104004.1, FJ868799.1 and BC007724.2. Summary: This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Transcript Variant: This variant (5) lacks two coding exons, 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. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: FJ868799.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..176 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.33" Protein 1..176 /product="bcl-2-like protein 12 isoform 2" /note="BCL2-like 12 (proline rich); Bcl-2 related proline-rich protein; bcl-2-like protein 12" /calculated_mol_wt=19002 Site 113 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:18669648; propagated from UniProtKB/Swiss-Prot (Q9HB09.1)" Site 117 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000244|PubMed:18669648; propagated from UniProtKB/Swiss-Prot (Q9HB09.1)" CDS 1..176 /gene="BCL2L12" /coded_by="NM_001282517.1:683..1213" /note="isoform 2 is encoded by transcript variant 5" /db_xref="GeneID:83596" /db_xref="HGNC:HGNC:13787" /db_xref="MIM:610837" ORIGIN 1 mgrpaglfpp lcpflgfrpe acwerhmqie rapsvppflr wagyrpgpvr rrgkvelikf 61 vrvqwrrpqv ewrrrrwgpg pgasmagsee lglredtlrv laaflrrgea agspvptppr 121 psysrllcfg gpaagtagpr aaeisaqpri tgspidregs htaeaggpag gggrsh // LOCUS NP_997069 315 aa linear PRI 01-SEP-2020 DEFINITION olfactory receptor 10A4 [Homo sapiens]. ACCESSION NP_997069 VERSION NP_997069.2 DBSOURCE REFSEQ: accession NM_207186.2 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 315) 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 315) 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 315) 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 315) AUTHORS Lane RP, Cutforth T, Young J, Athanasiou M, Friedman C, Rowen L, Evans G, Axel R, Hood L and Trask BJ. TITLE Genomic analysis of orthologous mouse and human olfactory receptor loci JOURNAL Proc. Natl. Acad. Sci. U.S.A. 98 (13), 7390-7395 (2001) PUBMED 11416212 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC087280.11. On Jan 21, 2010 this sequence version replaced NP_997069.1. 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. ##Evidence-Data-START## Transcript is intronless :: BC137024.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000379829.2/ ENSP00000369157.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..315 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11p15.4" Protein 1..315 /product="olfactory receptor 10A4" /note="olfactory receptor-like protein JCG5; olfactory receptor, family 10, subfamily A, member 4 pseudogene; hP2 olfactory receptor; olfactory receptor OR11-87" /calculated_mol_wt=34986 Site 5 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H209.2)" Site 27..47 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H209.2)" Region 35..306 /region_name="7tm_4" /note="Olfactory receptor; cl21561" /db_xref="CDD:304433" Region 42..291 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 56..76 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H209.2)" Site 101..121 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H209.2)" Site 141..161 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H209.2)" Site 199..218 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H209.2)" Site 239..259 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H209.2)" Site 273..293 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H209.2)" CDS 1..315 /gene="OR10A4" /gene_synonym="JCG5; OR10A4P" /coded_by="NM_207186.2:24..971" /db_xref="CCDS:CCDS7774.1" /db_xref="GeneID:283297" /db_xref="HGNC:HGNC:15130" ORIGIN 1 mmwenwtivs efvlvsfsal stelqallfl lfltiylvtl mgnvliilvt iadsalqspm 61 yfflrnlsfl eigfnlvivp kmlgtliiqd ttisflgcat qmyfffffga aeccllatma 121 ydryvaicdp lhypvimghi scaqlaaasw fsgfsvatvq ttwifsfpfc gpnrvnhffc 181 dsppvialvc adtsvfelea ltatvlfilf pfllilgsyv rilstifrmp saegkhqafs 241 tcsahllvvs lfystailty frpqssasse skkllslsst vvtpmlnpii yssrnkevka 301 alkrlihrtl gsqkl // LOCUS NP_001103984 598 aa linear PRI 01-SEP-2020 DEFINITION transcription factor COE4 [Homo sapiens]. ACCESSION NP_001103984 XP_044921 XP_943975 VERSION NP_001103984.1 DBSOURCE REFSEQ: accession NM_001110514.1 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 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 2 (residues 1 to 598) AUTHORS Wang SS, Betz AG and Reed RR. TITLE Cloning of a novel Olf-1/EBF-like gene, O/E-4, by degenerate oligo-based direct selection JOURNAL Mol. Cell. Neurosci. 20 (3), 404-414 (2002) PUBMED 12139918 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AB037863.1, AL035460.15, BC037555.1 and BC054347.1. Summary: EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2145774 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..598 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20p13" Protein 1..598 /product="transcription factor COE4" /note="OE-4; early B cell factor 4; olf-1/EBF-like 4" /calculated_mol_wt=63899 Region 18..244 /region_name="COE1_DBD" /note="Transcription factor COE1 DNA-binding domain; pfam16422" /db_xref="CDD:293031" Site order(60..64,154,157..160,166..169,171,194,196,198..202, 230,232..237) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:212156" Site order(154,158,161,167) /site_type="other" /note="Zinc binding site [ion binding]" /db_xref="CDD:212156" Region 252..336 /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 337..380 /region_name="COE1_HLH" /note="Transcription factor COE1 helix-loop-helix domain; pfam16423" /db_xref="CDD:293032" CDS 1..598 /gene="EBF4" /gene_synonym="COE4; O/E-4" /coded_by="NM_001110514.1:269..2065" /db_xref="CCDS:CCDS46573.1" /db_xref="GeneID:57593" /db_xref="HGNC:HGNC:29278" /db_xref="MIM:609935" ORIGIN 1 mdalprsgln lkeepllpag lgsvrswmqg agildastaa qsgvglarah fekqppsnlr 61 ksnffhfvla mydrqgqpve vertafidfv ekdrepgaek tnngihyrlr lvynnglrte 121 qdlyvrlids mskqaiiyeg qdknpemcrv lltheimcsr ccdrkscgnr netpsdpvii 181 drfflkfflk cnqnclknag nprdmrrfqv vvsttvsvdg hvlavsdnmf vhnnskhgrr 241 arrldpseaa tpcikaispg egwttggatv ivigdnffdg lqvvfgnvlv wselitphai 301 rvqtpprhip gvvevtlsyk skqfckgcpg rfvytalnep tidygfqrlq kviprhpgdp 361 erlpkevllk raadlaealy gvpgsnqell lkraadvaea lystprapgp laplapshph 421 pavvginafs splaiavgda tpgpepgyar scssasprgf apspgsqqsg yggglgaglg 481 gygapgvagl gvpgspsfln gstatspfai mpsspplaaa ssmslpaaap ttsvfsfspv 541 nmisavkqrs afapvlrpps sppqacprah geglpdqsfe dsdkfhspar glqglays // LOCUS NP_005728 192 aa linear PRI 01-SEP-2020 DEFINITION ADP-ribosylation factor-like protein 4C isoform 2 [Homo sapiens]. ACCESSION NP_005728 VERSION NP_005728.2 DBSOURCE REFSEQ: accession NM_005737.3 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 Kimura K, Matsumoto S, Harada T, Morii E, Nagatomo I, Shintani Y and Kikuchi A. TITLE ARL4C is associated with initiation and progression of lung adenocarcinoma and represents a therapeutic target JOURNAL Cancer Sci. 111 (3), 951-961 (2020) PUBMED 31925985 REMARK GeneRIF: ARL4C is involved in the initiation of the premalignant stage. REFERENCE 2 (residues 1 to 192) AUTHORS Hu Q and Mimori K. TITLE ASO Author Reflections: ARL4C and Peritoneal Dissemination in Gastric Cancer JOURNAL Ann. Surg. Oncol. 26 (Suppl 3), 547 (2019) PUBMED 30556117 REMARK GeneRIF: High ARL4C expression is associated with Peritoneal Dissemination in Gastric Cancer. REFERENCE 3 (residues 1 to 192) AUTHORS Harada T, Matsumoto S, Hirota S, Kimura H, Fujii S, Kasahara Y, Gon H, Yoshida T, Itoh T, Haraguchi N, Mizushima T, Noda T, Eguchi H, Nojima S, Morii E, Fukumoto T, Obika S and Kikuchi A. TITLE Chemically Modified Antisense Oligonucleotide Against ARL4C Inhibits Primary and Metastatic Liver Tumor Growth JOURNAL Mol. Cancer Ther. 18 (3), 602-612 (2019) PUBMED 30647122 REMARK GeneRIF: ARL4C antisense oligonucleotides (ASO) accumulated in cancer cells more efficiently than the surrounding normal cells in the liver and decreased ARL4C expression in the tumor. These results suggest that ARL4C ASO represents a novel targeted nucleic acid medicine for the treatment of primary and metastatic liver cancers. REFERENCE 4 (residues 1 to 192) AUTHORS Chen Q, Weng HY, Tang XP, Lin Y, Yuan Y, Li Q, Tang Z, Wu HB, Yang S, Li Y, Zhao XL, Fu WJ, Niu Q, Feng H, Zhang X, Wang Y, Bian XW and Yao XH. TITLE ARL4C stabilized by AKT/mTOR pathway promotes the invasion of PTEN-deficient primary human glioblastoma JOURNAL J. Pathol. 247 (2), 266-278 (2019) PUBMED 30357833 REMARK GeneRIF: ARL4C stabilized by AKT/mTOR pathway promotes the invasiveness of PTEN-deficient glioblastoma cells. REFERENCE 5 (residues 1 to 192) AUTHORS Wakinoue S, Chano T, Amano T, Isono T, Kimura F, Kushima R and Murakami T. TITLE ADP-ribosylation factor-like 4C predicts worse prognosis in endometriosis-associated ovarian cancers JOURNAL Cancer Biomark 24 (2), 223-229 (2019) PUBMED 30594917 REMARK GeneRIF: High ADP-ribosylation factor-like protein 4C (ARL4C) expression in endometriosis-associated ovarian cancer is a significantly independent predictive factor for worse 5-year overall survival and 5-year progression-free survival. REFERENCE 6 (residues 1 to 192) AUTHORS Wei SM, Xie CG, Abe Y and Cai JT. TITLE ADP-ribosylation factor like 7 (ARL7) interacts with alpha-tubulin and modulates intracellular vesicular transport JOURNAL Biochem. Biophys. Res. Commun. 384 (3), 352-356 (2009) PUBMED 19409876 REMARK GeneRIF: ARL7 might modulate the intracellular vesicular transport via interaction with microtubules. REFERENCE 7 (residues 1 to 192) AUTHORS Hofmann I, Thompson A, Sanderson CM and Munro S. TITLE The Arl4 family of small G proteins can recruit the cytohesin Arf6 exchange factors to the plasma membrane JOURNAL Curr. Biol. 17 (8), 711-716 (2007) PUBMED 17398095 REMARK GeneRIF: Study shows that three related Arf-like GTPases Arl4a, Arl4c, and Arl4d, are able to recruit ARNO and other cytohesins to the plasma membrane by binding to their PH domains irrespective of whether they are in the diglycine or triglycine form. REFERENCE 8 (residues 1 to 192) 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 192) AUTHORS Engel T, Lueken A, Bode G, Hobohm U, Lorkowski S, Schlueter B, Rust S, Cullen P, Pech M, Assmann G and Seedorf U. TITLE ADP-ribosylation factor (ARF)-like 7 (ARL7) is induced by cholesterol loading and participates in apolipoprotein AI-dependent cholesterol export JOURNAL FEBS Lett. 566 (1-3), 241-246 (2004) PUBMED 15147902 REFERENCE 10 (residues 1 to 192) AUTHORS Jacobs S, Schilf C, Fliegert F, Koling S, Weber Y, Schurmann A and Joost HG. TITLE ADP-ribosylation factor (ARF)-like 4, 6, and 7 represent a subgroup of the ARF family characterization by rapid nucleotide exchange and a nuclear localization signal JOURNAL FEBS Lett. 456 (3), 384-388 (1999) PUBMED 10462049 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BU844902.1, Y17804.1, BC001051.2, BM541491.1, CD358707.1, BM904613.1 and CA413100.1. On Dec 9, 1999 this sequence version replaced NP_005728.1. Summary: ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (2) contains an additional internal segment which results in alternate stop codon compared to variant 1. The encoded isoform (2) has a shorter 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. FEATURES Location/Qualifiers source 1..192 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2q37.1" Protein 1..192 /product="ADP-ribosylation factor-like protein 4C isoform 2" /note="ADP-ribosylation factor-like 7; ADP ribosylation factor-like protein 7; ADP-ribosylation factor-like 4C; ADP-ribosylation factor-like protein LAK; ADP-ribosylation factor-like protein 4C" /calculated_mol_wt=21356 Region 11..192 /region_name="Arl4_Arl7" /note="Arf-like 4 (Arl4) and 7 (Arl7) GTPases; cd04152" /db_xref="CDD:206719" Site 20..27 /site_type="other" /note="G1 box" /db_xref="CDD:206719" Site order(22..28,43..44,71,127..128,130,161..163) /site_type="other" /note="GTP/Mg2+ binding site [chemical binding]" /db_xref="CDD:206719" Site order(22..23,27,31,43..50,77,82) /site_type="other" /note="putative GAP interaction site [polypeptide binding]" /db_xref="CDD:206719" Site 32..47 /site_type="other" /note="Switch I region" /db_xref="CDD:206719" Site order(44..48,53,68,72,78,80..82) /site_type="other" /note="putative GEF interaction site [polypeptide binding]" /db_xref="CDD:206719" Site 44 /site_type="other" /note="G2 box" /db_xref="CDD:206719" Site order(45..52,67,78,81..82) /site_type="other" /note="putative effector interaction site" /db_xref="CDD:206719" Site order(48..60,62..67) /site_type="other" /note="interswitch region" /db_xref="CDD:206719" Site 68..85 /site_type="other" /note="Switch II region" /db_xref="CDD:206719" Site 68..71 /site_type="other" /note="G3 box" /db_xref="CDD:206719" Site 127..130 /site_type="other" /note="G4 box" /db_xref="CDD:206719" Site 161..163 /site_type="other" /note="G5 box" /db_xref="CDD:206719" Site order(181..184,190..192) /site_type="other" /note="putative nuclear localization signal" /db_xref="CDD:206719" CDS 1..192 /gene="ARL4C" /gene_synonym="ARL7; LAK" /coded_by="NM_005737.3:464..1042" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS2512.1" /db_xref="GeneID:10123" /db_xref="HGNC:HGNC:698" /db_xref="MIM:604787" ORIGIN 1 mgnissnisa fqslhivmlg ldsagkttvl yrlkfnefvn tvptigfnte kiklsngtak 61 gischfwdvg gqeklrplwk sysrctdgii yvvdsvdvdr leeaktelhk vtkfaenqgt 121 pllviankqd lpkslpvaei ekqlalheli pattyhvqpa caiigeglte gmdklyemil 181 krrkslkqkk kr // LOCUS NP_001121798 132 aa linear PRI 01-SEP-2020 DEFINITION binder of sperm protein homolog 1 precursor [Homo sapiens]. ACCESSION NP_001121798 XP_001723728 XP_001723788 XP_001725669 VERSION NP_001121798.1 DBSOURCE REFSEQ: accession NM_001128326.2 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 132) AUTHORS Plante G, Therien I, Lachance C, Leclerc P, Fan J and Manjunath P. TITLE Implication of the human Binder of SPerm Homolog 1 (BSPH1) protein in capacitation JOURNAL Mol. Hum. Reprod. 20 (5), 409-421 (2014) PUBMED 24435510 REMARK GeneRIF: Results show that the human epididymal BSPH1 shares many biochemical and functional characteristics with BSP proteins secreted by seminal vesicles of ungulates, and behaves similarly to its murine epididymal orthologue BSPH1. REFERENCE 2 (residues 1 to 132) AUTHORS Manjunath P, Lefebvre J, Jois PS, Fan J and Wright MW. TITLE New nomenclature for mammalian BSP genes JOURNAL Biol. Reprod. 80 (3), 394-397 (2009) PUBMED 18923155 REMARK Review article REFERENCE 3 (residues 1 to 132) AUTHORS Lefebvre J, Boileau G and Manjunath P. TITLE Recombinant expression and affinity purification of a novel epididymal human sperm-binding protein, BSPH1 JOURNAL Mol. Hum. Reprod. 15 (2), 105-114 (2009) PUBMED 19091820 REMARK GeneRIF: BSPH1 accumulates in inclusion bodies when expressed with an N-terminal hexahistidine tag in BL21 (DE3) Escherichia coli cells, and recombinant protein bound phosphatidylcholine liposomes, low-density lipoproteins and human sperm. REFERENCE 4 (residues 1 to 132) AUTHORS Lefebvre J, Fan J, Chevalier S, Sullivan R, Carmona E and Manjunath P. TITLE Genomic structure and tissue-specific expression of human and mouse genes encoding homologues of the major bovine seminal plasma proteins JOURNAL Mol. Hum. Reprod. 13 (1), 45-53 (2007) PUBMED 17085770 REFERENCE 5 (residues 1 to 132) 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 DQ227497.1 and AC010330.7. On or before Jun 15, 2008 this sequence version replaced XP_001725669.1, XP_001723728.1, XP_001723788.1. ##Evidence-Data-START## Transcript exon combination :: DQ227497.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2147596 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000344839.3/ ENSP00000341762.3 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..132 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.33" Protein 1..132 /product="binder of sperm protein homolog 1 precursor" /note="bovine seminal plasma protein-like 1; epididymal sperm binding protein 2; bovine seminal plasma protein homolog 1; binder of sperm 1" /calculated_mol_wt=13854 sig_peptide 1..17 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q075Z2.1)" /calculated_mol_wt=1857 Region 45..82 /region_name="fn2" /note="Fibronectin type II domain; pfam00040" /db_xref="CDD:278469" Site order(49,51,56,68,75,79,81) /site_type="other" /note="putative gelatin-binding site" /db_xref="CDD:238019" Site 53 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q075Z2.1)" Region 90..131 /region_name="fn2" /note="Fibronectin type II domain; pfam00040" /db_xref="CDD:278469" Site order(94,96,101,115,122,128,130) /site_type="other" /note="putative gelatin-binding site" /db_xref="CDD:238019" CDS 1..132 /gene="BSPH1" /gene_synonym="BSP1; ELSPBP2" /coded_by="NM_001128326.2:90..488" /db_xref="CCDS:CCDS46135.1" /db_xref="GeneID:100131137" /db_xref="HGNC:HGNC:33906" /db_xref="MIM:612213" ORIGIN 1 mgslmllfve ttrnssacif pvilnelsst vetithfpev tdgecvfpfh ykngtyydci 61 kskarhkwcs lnktyegywk fcsaedfanc vfpfwyrrli ywectddgea fgkkwcsltk 121 nfnkdriwky ce // LOCUS NP_001229742 692 aa linear PRI 01-SEP-2020 DEFINITION ankyrin repeat domain-containing protein 6 isoform c [Homo sapiens]. ACCESSION NP_001229742 VERSION NP_001229742.1 DBSOURCE REFSEQ: accession NM_001242813.1 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 692) AUTHORS Allache R, Wang M, De Marco P, Merello E, Capra V and Kibar Z. TITLE Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects JOURNAL Birth Defects Res. Part A Clin. Mol. Teratol. 103 (1), 20-26 (2015) PUBMED 25200652 REMARK GeneRIF: missense mutations in ANKRD6 are associated with neural tube defects. REFERENCE 2 (residues 1 to 692) AUTHORS Jones C, Qian D, Kim SM, Li S, Ren D, Knapp L, Sprinzak D, Avraham KB, Matsuzaki F, Chi F and Chen P. TITLE Ankrd6 is a mammalian functional homolog of Drosophila planar cell polarity gene diego and regulates coordinated cellular orientation in the mouse inner ear JOURNAL Dev. Biol. 395 (1), 62-72 (2014) PUBMED 25218921 REFERENCE 3 (residues 1 to 692) AUTHORS Wang M, Yu X, Dong Q and Wang Y. TITLE Diversin is overexpressed in human gliomas and its depletion inhibits proliferation and invasion JOURNAL Tumour Biol. 35 (8), 7905-7909 (2014) PUBMED 24833088 REMARK GeneRIF: diversin is overexpressed in human glioma and regulates glioma cell proliferation and invasion, possibly through MMP9 REFERENCE 4 (residues 1 to 692) AUTHORS Yu X, Wang M, Dong Q and Jin F. TITLE Diversin is overexpressed in breast cancer and accelerates cell proliferation and invasion JOURNAL PLoS ONE 9 (5), e98591 (2014) PUBMED 24858714 REMARK GeneRIF: study demonstrated that diversin was overexpressed in human breast cancers. Diversin could contribute to breast cancer cell proliferation and invasion. Erratum:[PLoS One. 2014;9(12):e116045] Publication Status: Online-Only REFERENCE 5 (residues 1 to 692) 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 6 (residues 1 to 692) AUTHORS Li J, Liu F, Wang H, Liu X, Liu J, Li N, Wan F, Wang W, Zhang C, Jin S, Liu J, Zhu P and Liu Y. TITLE Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins JOURNAL Mol. Cell Proteomics 9 (11), 2517-2528 (2010) PUBMED 20736409 REFERENCE 7 (residues 1 to 692) AUTHORS Haribaskar R, Putz M, Schupp B, Skouloudaki K, Bietenbeck A, Walz G and Schafer T. TITLE The planar cell polarity (PCP) protein Diversin translocates to the nucleus to interact with the transcription factor AF9 JOURNAL Biochem. Biophys. Res. Commun. 387 (1), 212-217 (2009) PUBMED 19591803 REMARK GeneRIF: Diversin, containing several nuclear localization signals, translocates to the nucleus, where it interacts with the transcription factor AF9. REFERENCE 8 (residues 1 to 692) AUTHORS Miyasaka KY, Kida YS, Sato T, Minami M and Ogura T. TITLE Csrp1 regulates dynamic cell movements of the mesendoderm and cardiac mesoderm through interactions with Dishevelled and Diversin JOURNAL Proc. Natl. Acad. Sci. U.S.A. 104 (27), 11274-11279 (2007) PUBMED 17592114 REFERENCE 9 (residues 1 to 692) AUTHORS Schwarz-Romond T, Asbrand C, Bakkers J, Kuhl M, Schaeffer HJ, Huelsken J, Behrens J, Hammerschmidt M and Birchmeier W. TITLE The ankyrin repeat protein Diversin recruits Casein kinase Iepsilon to the beta-catenin degradation complex and acts in both canonical Wnt and Wnt/JNK signaling JOURNAL Genes Dev. 16 (16), 2073-2084 (2002) PUBMED 12183362 REFERENCE 10 (residues 1 to 692) AUTHORS Tissir F, Bar I, Goffinet AM and Lambert De Rouvroit C. TITLE Expression of the ankyrin repeat domain 6 gene (Ankrd6) during mouse brain development JOURNAL Dev. Dyn. 224 (4), 465-469 (2002) PUBMED 12203740 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DN999929.1, AB023174.1, AK295731.1 and AL096678.8. Transcript Variant: This variant (4) lacks an in-frame exon in the coding region, compared to variant 1. The resulting isoform (c) lacks an 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 :: SRR1803611.119358.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..692 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6q15" Protein 1..692 /product="ankyrin repeat domain-containing protein 6 isoform c" /note="diversin; ankyrin repeat domain-containing protein 6; diego homolog; epididymis secretory sperm binding protein" /calculated_mol_wt=75606 Region 37..161 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Site order(41,43,47..48,51..53,55..56,60,63,72,74,76,80..81, 84..86,88..89,93,96,105,107,109,113..114,117..119, 121..122,126,129,138) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 41..72 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 74..105 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 102..227 /region_name="ANK" /note="ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other...; cd00204" /db_xref="CDD:238125" Region 107..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..188,192,195,204,206,208,212..213, 216..218,220..221,225,228,237) /site_type="other" /note="oligomer interface [polypeptide binding]" /db_xref="CDD:293786" Region 173..204 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" Region 190..>270 /region_name="Ank_5" /note="Ankyrin repeats (many copies); cl26072" /db_xref="CDD:330893" Region 206..237 /region_name="ANK repeat" /note="ANK repeat [structural motif]" /db_xref="CDD:293786" CDS 1..692 /gene="ANKRD6" /coded_by="NM_001242813.1:342..2420" /note="isoform c is encoded by transcript variant 4" /db_xref="CCDS:CCDS56442.1" /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 sqsakllika 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 NP_004426 297 aa linear PRI 01-SEP-2020 DEFINITION endonuclease G, mitochondrial precursor [Homo sapiens]. ACCESSION NP_004426 VERSION NP_004426.2 DBSOURCE REFSEQ: accession NM_004435.2 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 Zhdanov DD, Gladilina YA, Pokrovsky VS, Grishin DV, Grachev VA, Orlova VS, Pokrovskaya MV, Alexandrova SS, Plyasova AA and Sokolov NN. TITLE Endonuclease G modulates the alternative splicing of deoxyribonuclease 1 mRNA in human CD4(+) T lymphocytes and prevents the progression of apoptosis JOURNAL Biochimie 157, 158-176 (2019) PUBMED 30521874 REMARK GeneRIF: EndoG is an endonuclease with the unique ability to inactivate another endonuclease, DNase I, and to modulate the development of apoptosis. REFERENCE 2 (residues 1 to 297) AUTHORS Zhdanov DD, Vasina DA, Grachev VA, Orlova EV, Orlova VS, Pokrovskaya MV, Alexandrova SS and Sokolov NN. TITLE Alternative splicing of telomerase catalytic subunit hTERT generated by apoptotic endonuclease EndoG induces human CD4(+) T cell death JOURNAL Eur. J. Cell Biol. 96 (7), 653-664 (2017) PUBMED 28886883 REMARK GeneRIF: These data indicated the participation of EndoG in alternative mRNA splicing of the telomerase catalytic subunit hTERT, regulation of telomerase activity and determination of cell fate. REFERENCE 3 (residues 1 to 297) AUTHORS Vasina DA, Zhdanov DD, Orlova EV, Orlova VS, Pokrovskaya MV, Aleksandrova SS and Sokolov NN. TITLE Apoptotic Endonuclease EndoG Inhibits Telomerase Activity and Induces Malignant Transformation of Human CD4+ T Cells JOURNAL Biochemistry Mosc. 82 (1), 24-37 (2017) PUBMED 28320284 REMARK GeneRIF: Overexpression of EndoG in CD4+ T cells downregulated the expression of the active full-length hTERT variant and upregulated the inactive alternatively spliced variant. REFERENCE 4 (residues 1 to 297) AUTHORS Xue J, Fu C, Cong Z, Peng L, Peng Z, Chen T, Wang W, Jiang H, Wei Q and Qin C. TITLE Galectin-3 promotes caspase-independent cell death of HIV-1-infected macrophages JOURNAL FEBS J. 284 (1), 97-113 (2017) PUBMED 27981746 REMARK GeneRIF: Galectin-3-induced cell death in HIV-1-infected macrophages is most likely related to the translocation of Endo G from the cytoplasm to the nucleus. REFERENCE 5 (residues 1 to 297) AUTHORS Zhdanov DD, Vasina DA, Orlova EV, Orlova VS, Pokrovskaya MV, Aleksandrova SS and Sokolov NN. TITLE [Apoptotic endonuclease EndoG regulates alternative splicing of human telomerase catalytic subunit hTERT] JOURNAL Biomed Khim 62 (5), 544-554 (2016) PUBMED 27797329 REMARK GeneRIF: ndoG digests long non-coding RNA and produces 47-mer RNA oligonucleotide complementary to hTERT pre-mRNA exon 8 and intron 8 junction place. Interaction of 47-mer RNA oligonucleotide and hTERT pre-mRNA causes alternative splicing. REFERENCE 6 (residues 1 to 297) AUTHORS Lemarie A, Lagadic-Gossmann D, Morzadec C, Allain N, Fardel O and Vernhet L. TITLE Cadmium induces caspase-independent apoptosis in liver Hep3B cells: role for calcium in signaling oxidative stress-related impairment of mitochondria and relocation of endonuclease G and apoptosis-inducing factor JOURNAL Free Radic. Biol. Med. 36 (12), 1517-1531 (2004) PUBMED 15182854 REMARK GeneRIF: endonuclease G and apoptosis-inducing factor are relocated and have roles in calcium induced signaling and oxidative stress-related impairment of mitochondria REFERENCE 7 (residues 1 to 297) AUTHORS Ohsato T, Ishihara N, Muta T, Umeda S, Ikeda S, Mihara K, Hamasaki N and Kang D. TITLE Mammalian mitochondrial endonuclease G. Digestion of R-loops and localization in intermembrane space JOURNAL Eur. J. Biochem. 269 (23), 5765-5770 (2002) PUBMED 12444964 REMARK GeneRIF: examination of submitochondrial localization and its ability to cleave R-loops in order to clarify role in mtDNA replication REFERENCE 8 (residues 1 to 297) AUTHORS Li LY, Luo X and Wang X. TITLE Endonuclease G is an apoptotic DNase when released from mitochondria JOURNAL Nature 412 (6842), 95-99 (2001) PUBMED 11452314 REFERENCE 9 (residues 1 to 297) AUTHORS Prats E, Noel M, Letourneau J, Tiranti V, Vaque J, Debon R, Zeviani M, Cornudella L and Ruiz-Carrillo A. TITLE Characterization and expression of the mouse endonuclease G gene JOURNAL DNA Cell Biol. 16 (9), 1111-1122 (1997) PUBMED 9324313 REFERENCE 10 (residues 1 to 297) AUTHORS Tiranti V, Rossi E, Ruiz-Carrillo A, Rossi G, Rocchi M, DiDonato S, Zuffardi O and Zeviani M. TITLE Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis JOURNAL Genomics 25 (2), 559-564 (1995) PUBMED 7789991 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC016351.1, X79444.1 and BC004922.2. This sequence is a reference standard in the RefSeqGene project. On Oct 4, 2004 this sequence version replaced NP_004426.1. Summary: The protein encoded by this gene is a nuclear encoded endonuclease that is localized in the mitochondrion. The encoded protein is widely distributed among animals and cleaves DNA at GC tracts. This protein is capable of generating the RNA primers required by DNA polymerase gamma to initiate replication of mitochondrial DNA. [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 :: BC016351.1, SRR1163658.345369.1 [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 :: ENST00000372642.5/ ENSP00000361725.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..297 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q34.11" Protein 1..297 /product="endonuclease G, mitochondrial precursor" /note="endo G; endonuclease G, mitochondrial; mitochondrial endonuclease G" /calculated_mol_wt=27718 transit_peptide 1..48 /calculated_mol_wt=4921 mat_peptide 49..297 /product="endonuclease G, mitochondrial" /calculated_mol_wt=27718 Region 78..284 /region_name="NUC" /note="DNA/RNA non-specific endonuclease; smart00477" /db_xref="CDD:214683" Site order(138..139,141,172,180,184) /site_type="active" /db_xref="CDD:238043" Site order(138..139,184) /site_type="other" /note="substrate binding site [chemical binding]" /db_xref="CDD:238043" Site 172 /site_type="other" /note="Mg2+ binding site [ion binding]" /db_xref="CDD:238043" CDS 1..297 /gene="ENDOG" /coded_by="NM_004435.2:186..1079" /db_xref="CCDS:CCDS6912.1" /db_xref="GeneID:2021" /db_xref="HGNC:HGNC:3346" /db_xref="MIM:600440" ORIGIN 1 mralragltl asgaglgavv egwrrrreda raapgllgrl pvlpvaaaae lppvpggprg 61 pgelakyglp glaqlksres yvlcydprtr galwvveqlr perlrgdgdr recdfredds 121 vhayhratna dyrgsgfdrg hlaaaanhrw sqkamddtfy lsnvapqvph lnqnawnnle 181 kysrsltrsy qnvyvctgpl flprteadgk syvkyqvigk nhvavpthff kvlileaagg 241 qielrtyvmp napvdeaipl erflvpiesi erasgllfvp nilaragslk aitagsk // LOCUS NP_001185684 69 aa linear PRI 01-SEP-2020 DEFINITION guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 [Homo sapiens]. ACCESSION NP_001185684 VERSION NP_001185684.1 DBSOURCE REFSEQ: accession NM_001198755.1 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (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), 385-391 (2013) PUBMED 23535732 REFERENCE 3 (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 4 (residues 1 to 69) AUTHORS Fowler CE, Aryal P, Suen KF and Slesinger PA. TITLE Evidence for association of GABA(B) receptors with Kir3 channels and regulators of G protein signalling (RGS4) proteins JOURNAL J. Physiol. (Lond.) 580 (Pt 1), 51-65 (2007) PUBMED 17185339 REFERENCE 5 (residues 1 to 69) AUTHORS DePuy SD, Yao J, Hu C, McIntire W, Bidaud I, Lory P, Rastinejad F, Gonzalez C, Garrison JC and Barrett PQ. TITLE The molecular basis for T-type Ca2+ channel inhibition by G protein beta2gamma2 subunits JOURNAL Proc. Natl. Acad. Sci. U.S.A. 103 (39), 14590-14595 (2006) PUBMED 16973746 REMARK GeneRIF: Recombinant Gbetagamma subunits were used to establish that the Gbeta(2)gamma(2) dimer can selectively reconstitute the inhibition of alpha(1H) channels in isolated membrane patches. REFERENCE 6 (residues 1 to 69) AUTHORS Cook LA, Schey KL, Cleator JH, Wilcox MD, Dingus J and Hildebrandt JD. TITLE Identification of a region in G protein gamma subunits conserved across species but hypervariable among subunit isoforms JOURNAL Protein Sci. 10 (12), 2548-2555 (2001) PUBMED 11714923 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 AK312839.1, 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 (3) 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 :: AK312839.1, DB148559.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968540 [ECO:0000350] ##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="guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2; gamma-T2 subunit; G-gamma-9; G protein cone gamma 8 subunit; guanine nucleotide binding protein gamma 9; g gamma-C; guanine nucleotide binding protein gamma transducing activity polypeptide 2" /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; GNG8; GNG9; GNGT8" /coded_by="NM_001198755.1:291..500" /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_079016 618 aa linear PRI 01-SEP-2020 DEFINITION alpha-1,2-mannosyltransferase ALG9 isoform a [Homo sapiens]. ACCESSION NP_079016 VERSION NP_079016.2 DBSOURCE REFSEQ: accession NM_024740.2 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 618) 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 2 (residues 1 to 618) AUTHORS Maratha A, Stockmann H, Coss KP, Estela Rubio-Gozalbo M, Knerr I, Fitzgibbon M, McVeigh TP, Foley P, Moss C, Colhoun HO, van Erven B, Stephens K, Doran P, Rudd P and Treacy E. TITLE Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis JOURNAL Eur. J. Hum. Genet. 24 (7), 976-984 (2016) PUBMED 26733289 REMARK GeneRIF: ALG9 is upregulated in peripheral blood mononuclear cells of galactosaemia patients. REFERENCE 3 (residues 1 to 618) 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, Trigg 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 618) AUTHORS Tham E, Eklund EA, Hammarsjo A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Albage M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G and Grigelioniene G. TITLE A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9 JOURNAL Eur. J. Hum. Genet. 24 (2), 198-207 (2016) PUBMED 25966638 REMARK GeneRIF: Our study shows that some pathogenic variants in ALG9 can present as a lethal skeletal dysplasia with visceral malformations as the most severe phenotype REFERENCE 5 (residues 1 to 618) 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 618) 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 7 (residues 1 to 618) 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 8 (residues 1 to 618) 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 9 (residues 1 to 618) 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 10 (residues 1 to 618) AUTHORS Sparks,S.E. and Krasnewich,D.M. TITLE Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K 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 AK025498.1, BC009255.2 and AP001781.5. This sequence is a reference standard in the RefSeqGene project. On Nov 16, 2006 this sequence version replaced NP_079016.1. 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]. 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 :: AK025498.1, SRR1803613.9011.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000616540.5/ ENSP00000482437.1 RefSeq Select criteria :: based on manual assertion, conservation ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..618 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11q23.1" Protein 1..618 /product="alpha-1,2-mannosyltransferase ALG9 isoform a" /EC_number="2.4.1.259" /EC_number="2.4.1.261" /note="disrupted in bipolar affective disorder 1; asparagine-linked glycosylation 9 homolog (yeast, alpha- 1,2-mannosyltransferase); asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase); asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog; loss of heterozygosity, 11, chromosomal region 1 gene J product; disrupted in bipolar disorder protein 1; asparagine-linked glycosylation protein 9 homolog; alpha-1,2-mannosyltransferase ALG9; 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; 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=70656 Region 60..489 /region_name="Glyco_transf_22" /note="Alg9-like mannosyltransferase family; pfam03901" /db_xref="CDD:281842" Site 77 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H6U8.2)" Site 136..156 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H6U8.2)" Site 172..192 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H6U8.2)" Site 214..234 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H6U8.2)" Site 250..270 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H6U8.2)" Site 305..325 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H6U8.2)" Site 340 /site_type="other" /note="Breakpoint for translocation. /evidence=ECO:0000269|PubMed:12030331; propagated from UniProtKB/Swiss-Prot (Q9H6U8.2)" Site 343..363 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H6U8.2)" Site 413..433 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9H6U8.2)" Site 600 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9H6U8.2)" CDS 1..618 /gene="ALG9" /gene_synonym="CDG1L; DIBD1; GIKANIS; LOH11CR1J" /coded_by="NM_024740.2:100..1956" /note="isoform a is encoded by transcript variant 1" /db_xref="CCDS:CCDS73380.1" /db_xref="GeneID:79796" /db_xref="HGNC:HGNC:15672" /db_xref="MIM:606941" ORIGIN 1 masrgarqrl kgsgassgdt apaadklrel lgsreaggae hrtelsgnka gqvwapegst 61 afkcllsarl caallsnisd cdetfnywep thyliygegf qtweyspaya irsyaylllh 121 awpaafhari lqtnkilvfy flrcllafvs cicelyfyka vckkfglhvs rmmlaflvls 181 tgmfcsssaf lpssfcmytt liamtgwymd ktsiavlgva agailgwpfs aalglpiafd 241 llvmkhrwks ffhwslmali lflvpvvvid syyygklvia plnivlynvf tphgpdlygt 301 epwyfyling flnfnvafal allvlpltsl meyllqrfhv qnlghpywlt lapmyiwfii 361 ffiqphkeer flfpvyplic lcgavalsal qhsflyfqkc yhfvfqryrl ehytvtsnwl 421 algtvflfgl lsfsrsvalf rgyhgpldly pefyriatdp tihtvpegrp vnvcvgkewy 481 rfpssfllpd nwqlqfipse frgqlpkpfa egplatrivp tdmndqnlee psryidiskc 541 hylvdldtmr etprepkyss nkeewislay rpfldasrss kllrafyvpf lsdqytvyvn 601 ytilkprkak qirkksgg // LOCUS NP_001345342 496 aa linear PRI 01-SEP-2020 DEFINITION zinc finger and SCAN domain-containing protein 5C [Homo sapiens]. ACCESSION NP_001345342 VERSION NP_001345342.1 DBSOURCE REFSEQ: accession NM_001358413.2 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 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC011506.3. ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on single protein-coding transcript ##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 protein 5-like protein 2; zinc finger and SCAN domain containing 5C, pseudogene; zinc finger and SCAN domain-containing protein 5C pseudogene; putative zinc finger and SCAN domain-containing protein 5C" /calculated_mol_wt=55598 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 356..378 /region_name="zf-C2H2" /note="Zinc finger, C2H2 type; pfam00096" /db_xref="CDD:333835" 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:372612" 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:333835" 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_001358413.2:178..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_937830 402 aa linear PRI 01-SEP-2020 DEFINITION astrotactin-2 isoform c [Homo sapiens]. ACCESSION NP_937830 XP_002346233 XP_003120151 VERSION NP_937830.3 DBSOURCE REFSEQ: accession NM_198187.3 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 402) AUTHORS Behesti H, Fore TR, Wu P, Horn Z, Leppert M, Hull C and Hatten ME. TITLE ASTN2 modulates synaptic strength by trafficking and degradation of surface proteins JOURNAL Proc. Natl. Acad. Sci. U.S.A. 115 (41), E9717-E9726 (2018) PUBMED 30242134 REMARK GeneRIF: ASTN2 localizes primarily to endocytic and autophagocytic vesicles in the cell soma and in subsets of dendritic spines REFERENCE 2 (residues 1 to 402) AUTHORS An XK, Fang J, Yu ZZ, Lin Q, Lu CX, Qu HL and Ma QL. TITLE Multilocus analysis reveals three candidate genes for Chinese migraine susceptibility JOURNAL Clin. Genet. 92 (2), 143-149 (2017) PUBMED 28058730 REMARK GeneRIF: Our study suggests that the MEF2D, PRDM16 and ASTN2 genes from GWAS are associated with migraine susceptibility, especially migraine without aura , among Chinese patients. It appears that there is no association with serotonin receptor related genes. REFERENCE 3 (residues 1 to 402) AUTHORS Freitag CM, Lempp T, Nguyen TT, Jacob CP, Weissflog L, Romanos M, Renner TJ, Walitza S, Warnke A, Rujescu D, Lesch KP and Reif A. TITLE The role of ASTN2 variants in childhood and adult ADHD, comorbid disorders and associated personality traits JOURNAL J Neural Transm (Vienna) 123 (8), 849-858 (2016) PUBMED 27138430 REMARK GeneRIF: The findings of this study do not support a major role of ASTN2 variants in ADHD or its comorbid disorders respective aADHD associated personality traits. REFERENCE 4 (residues 1 to 402) AUTHORS Ni T, Harlos K and Gilbert R. TITLE Structure of astrotactin-2: a conserved vertebrate-specific and perforin-like membrane protein involved in neuronal development JOURNAL Open Biol 6 (5) (2016) PUBMED 27249642 REMARK GeneRIF: Results present the structure of ASTN-2 consisting of a combination of polypeptide folds: a perforin-like domain, a minimal epidermal growth factor-like module, a unique form of fibronectin type III domain and an annexin-like domain. Structural and biophysical data show that ASTN-2 binds inositol triphosphates, suggesting a mechanism for membrane recognition or secondary messenger regulation of its activity. REFERENCE 5 (residues 1 to 402) AUTHORS Rivers C, Idris J, Scott H, Rogers M, Lee YB, Gaunt J, Phylactou L, Curk T, Campbell C, Ule J, Norman M and Uney JB. TITLE iCLIP identifies novel roles for SAFB1 in regulating RNA processing and neuronal function JOURNAL BMC Biol. 13, 111 (2015) PUBMED 26694817 REMARK GeneRIF: The expression of coding and non-coding genes with SAFB1 cross-link sites was altered by SAFB1 knockdown. The isoform-specific expression of neural cell adhesion molecule (NCAM1) and ASTN2 was influenced by SAFB1. Publication Status: Online-Only REFERENCE 6 (residues 1 to 402) AUTHORS Siedlinski M, Cho MH, Bakke P, Gulsvik A, Lomas DA, Anderson W, Kong X, Rennard SI, Beaty TH, Hokanson JE, Crapo JD and Silverman EK. CONSRTM COPDGene Investigators; ECLIPSE Investigators TITLE Genome-wide association study of smoking behaviours in patients with COPD JOURNAL Thorax 66 (10), 894-902 (2011) PUBMED 21685187 REFERENCE 7 (residues 1 to 402) AUTHORS Adkins DE, Aberg K, McClay JL, Bukszar J, Zhao Z, Jia P, Stroup TS, Perkins D, McEvoy JP, Lieberman JA, Sullivan PF and van den Oord EJ. TITLE Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs JOURNAL Mol. Psychiatry 16 (3), 321-332 (2011) PUBMED 20195266 REMARK GeneRIF: Clinical trial and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 8 (residues 1 to 402) 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 REMARK GeneRIF: Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 9 (residues 1 to 402) AUTHORS Lesch KP, Timmesfeld N, Renner TJ, Halperin R, Roser C, Nguyen TT, Craig DW, Romanos J, Heine M, Meyer J, Freitag C, Warnke A, Romanos M, Schafer H, Walitza S, Reif A, Stephan DA and Jacob C. TITLE Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies JOURNAL J Neural Transm (Vienna) 115 (11), 1573-1585 (2008) PUBMED 18839057 REMARK GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 10 (residues 1 to 402) 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) COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA015423.1, BC143293.1 and AI341147.1. On or before Dec 9, 2010 this sequence version replaced XP_003120151.1, XP_002346233.2, NP_937830.2. Summary: This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [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## CDS exon combination :: BC143293.1 [ECO:0000331] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..402 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q33.1" Protein 1..402 /product="astrotactin-2 isoform c" /calculated_mol_wt=45208 Region <1..87 /region_name="MACPF" /note="MAC/Perforin domain; cl02616" /db_xref="CDD:295395" Region 131..240 /region_name="FN3" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; cd00063" /db_xref="CDD:238020" Site order(229..230,232..233) /site_type="other" /note="Cytokine receptor motif" /db_xref="CDD:238020" CDS 1..402 /gene="ASTN2" /gene_synonym="bA67K19.1" /coded_by="NM_198187.3:237..1445" /note="isoform c is encoded by transcript variant 3" /db_xref="GeneID:23245" /db_xref="HGNC:HGNC:17021" /db_xref="MIM:612856" ORIGIN 1 mpfitylsgl ltaqmlsddq lisgveirce ekgrcpstch lcrrpgkeql sptpvllein 61 rvvplytliq dngtkeafks almssywcsg kgdviddwcr cdlsafdang lpncspllqp 121 vlrlsptvep sstvvslewv dvqpaigtkv sdyilqhkkv deytdtdlyt geflsfaddl 181 lsglgtscva agrshgevpe vsiysvifkc lepdglykft lyavdtrgrh selstvtlrt 241 acplvddnka eeiadkiynl yngytsgkeq qmayntlmev sasmlfrvqh hynshyekfg 301 dfvwrsedel gprkahlilr rlervsshcs sllrsayiqs rvetvpylfc rseevrpagm 361 vwysilkdtk itceekmvsm arntygeskg ryyltlskvs pf // LOCUS NP_001157876 693 aa linear PRI 01-SEP-2020 DEFINITION golgin subfamily A member 6C [Homo sapiens]. ACCESSION NP_001157876 XP_496076 VERSION NP_001157876.1 DBSOURCE REFSEQ: accession NM_001164404.1 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 693) 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 INFERRED REFSEQ: This record is predicted by genome sequence analysis and is not yet supported by experimental evidence. The reference sequence was derived from AC068338.14. On Aug 25, 2009 this sequence version replaced XP_496076.1. 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## 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="15" /map="15q24.2" Protein 1..693 /product="golgin subfamily A member 6C" /note="golgi autoantigen, golgin subfamily a, 6C; putative golgin subfamily A member 6C" /calculated_mol_wt=79753 Region 217..686 /region_name="GOLGA2L5" /note="Putative golgin subfamily A member 2-like protein 5; pfam15070" /db_xref="CDD:291729" Region 264..>346 /region_name="V_ATPase_I" /note="V-type ATPase 116kDa subunit family; pfam01496" /db_xref="CDD:279793" CDS 1..693 /gene="GOLGA6C" /coded_by="NM_001164404.1:42..2123" /db_xref="CCDS:CCDS58388.1" /db_xref="GeneID:653641" /db_xref="HGNC:HGNC:32206" ORIGIN 1 mwpqpylpph pmmleesrqn klaaakkklk eyqqrkspgi pagaktkkkk tdsspettts 61 ggghspgdsq yqelavales ssvtinqlne nieslkqqkk qvehqleeak ktnneihkaq 121 meqletinil tlekadlktt lyhtkraarh feeeskdlag rlqyslqriq eleralsavs 181 tqqqeedrss screavlqrr lqqtikeral lnahvtqvte slkqvqlerd eyakhikger 241 arwqermwkm sveartlkee kkrdihriqe lerslselkn qmaeppslap pavtsvveql 301 qdeakhlrqe veglegklqs qvennqalsl lskeqkqrlq eqeemlreqe aqrvreqerl 361 ceqnerlreq qktlqeqger lrkqeqrlrk qeerlrkeee rlqkqekrlw dqeerlwkke 421 erlqkqeerl alsqnhkldk qlaepqcsfe dlnnekksal qleqqvkelq ekldeehlea 481 asqrnqqlet qlslvalpge gdggqhldse eeeaprptpn ipedlesrea tssfmdlpke 541 kadgteqver relgfvqpsg vtdgmresft vyesqgavpn trhqemedvi rlaqkeeemk 601 vkllelqelv lplvgnhegh gkfliaaqnp adeptpgapa pqelgaageq ddfyevsldn 661 nvepapgaar egsphdnppv qqivqlspvm qdt // LOCUS NP_689692 239 aa linear PRI 01-SEP-2020 DEFINITION tetratricopeptide repeat protein 9B [Homo sapiens]. ACCESSION NP_689692 VERSION NP_689692.2 DBSOURCE REFSEQ: accession NM_152479.5 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 239) 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 2 (residues 1 to 239) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC118344.2, AK289550.1 and CA432622.1. On Apr 8, 2004 this sequence version replaced NP_689692.1. ##Evidence-Data-START## Transcript exon combination :: BC029539.1, AK289550.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142670, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..239 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.2" Protein 1..239 /product="tetratricopeptide repeat protein 9B" /note="TPR repeat protein 9B" /calculated_mol_wt=25801 Site 7 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9D6E4; propagated from UniProtKB/Swiss-Prot (Q8N6N2.1)" Site 27 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:Q9D6E4; propagated from UniProtKB/Swiss-Prot (Q8N6N2.1)" Region 65..99 /region_name="TPR 1" /note="propagated from UniProtKB/Swiss-Prot (Q8N6N2.1)" Region 65..93 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 135..165 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Site order(136,139..140,143..144,146,172,175..176,179..180, 182..183,206,209..210,213..214,217) /site_type="other" /note="putative protein binding surface [polypeptide binding]" /db_xref="CDD:276809" Region <152..>220 /region_name="PEP_TPR_lipo" /note="putative PEP-CTERM system TPR-repeat lipoprotein; TIGR02917" /db_xref="CDD:274350" Region 170..200 /region_name="TPR repeat" /note="TPR repeat [structural motif]" /db_xref="CDD:276809" Region 171..204 /region_name="TPR 2" /note="propagated from UniProtKB/Swiss-Prot (Q8N6N2.1)" CDS 1..239 /gene="TTC9B" /coded_by="NM_152479.5:19..738" /db_xref="CCDS:CCDS12550.1" /db_xref="GeneID:148014" /db_xref="HGNC:HGNC:26395" ORIGIN 1 mqrgalspvl mlsaapeppp rpppalsppg sgpgsgsrhg sarpgptpep sgslgaalds 61 slraavafka egqrcyrekk freaigkyhr allqlkaaqg arpsglpapa pgptsspgpa 121 rlseeqrrlv estevecyds ltacllqsel vnyervreyc lkvlekqqgn fkatyragia 181 fyhlgdyara lrylqearsr eptdtnvlry iqltqlkmnr cslqredsga gsqtrdvig // LOCUS NP_001070974 107 aa linear PRI 01-SEP-2020 DEFINITION tachykinin-4 isoform alpha-2 precursor [Homo sapiens]. ACCESSION NP_001070974 VERSION NP_001070974.1 DBSOURCE REFSEQ: accession NM_001077506.1 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 107) AUTHORS Gonzalez-Santana A, Marrero-Hernandez S, Dorta I, Hernandez M, Pinto FM, Baez D, Bello AR, Candenas L and Almeida TA. TITLE Altered expression of the tachykinins substance P/neurokinin A/hemokinin-1 and their preferred neurokinin 1/neurokinin 2 receptors in uterine leiomyomata JOURNAL Fertil. Steril. 106 (6), 1521-1529 (2016) PUBMED 27456549 REMARK GeneRIF: Expression substance P/neurokinin A/hemokinin-1 and their preferred neurokinin 1/neurokinin 2 receptors are dysregulated in uterine leiomyomata. REFERENCE 2 (residues 1 to 107) AUTHORS Zhang Y, Li X, Li J, Hu H, Miao X, Song X, Yang W, Zeng Q, Mou L and Wang R. TITLE Human hemokinin-1 promotes migration of melanoma cells and increases MMP-2 and MT1-MMP expression by activating tumor cell NK1 receptors JOURNAL Peptides 83, 8-15 (2016) PUBMED 27458061 REMARK GeneRIF: Kinase activation led to increased MMP-2 and MT1-MMP expression and melanoma cell migration induced by hHK-1. Thus, hHK-1 and the NK1 receptor are critical to melanoma cell migration and each may be a promising chemotherapeutic target REFERENCE 3 (residues 1 to 107) AUTHORS Garcia-Ortega J, Pinto FM, Prados N, Bello AR, Almeida TA, Fernandez-Sanchez M and Candenas L. TITLE Expression of Tachykinins and Tachykinin Receptors and Interaction with Kisspeptin in Human Granulosa and Cumulus Cells JOURNAL Biol. Reprod. 94 (6), 124 (2016) PUBMED 27146034 REMARK GeneRIF: expressed in mural granulosa and cumulus cells REFERENCE 4 (residues 1 to 107) AUTHORS Song H, Yin W, Zeng Q, Jia H, Lin L, Liu X, Mu L and Wang R. TITLE Hemokinins modulate endothelium function and promote angiogenesis through neurokinin-1 receptor JOURNAL Int. J. Biochem. Cell Biol. 44 (9), 1410-1421 (2012) PUBMED 22554585 REMARK GeneRIF: HKs emerge as pivotal endogenous regulators of angiogenesis through neurokinin-1 receptor REFERENCE 5 (residues 1 to 107) AUTHORS Cunin P, Caillon A, Corvaisier M, Garo E, Scotet M, Blanchard S, Delneste Y and Jeannin P. TITLE The tachykinins substance P and hemokinin-1 favor the generation of human memory Th17 cells by inducing IL-1beta, IL-23, and TNF-like 1A expression by monocytes JOURNAL J. Immunol. 186 (7), 4175-4182 (2011) PUBMED 21368235 REMARK GeneRIF: HK-1 and substance P are novel T helper (Th)17 cell-inducing factors that may act locally on memory T cells to amplify inflammatory responses. REFERENCE 6 (residues 1 to 107) AUTHORS Page NM. TITLE Hemokinins and endokinins JOURNAL Cell. Mol. Life Sci. 61 (13), 1652-1663 (2004) PUBMED 15224188 REMARK Review article REFERENCE 7 (residues 1 to 107) AUTHORS Page NM, Bell NJ, Gardiner SM, Manyonda IT, Brayley KJ, Strange PG and Lowry PJ. TITLE Characterization of the endokinins: human tachykinins with cardiovascular activity JOURNAL Proc. Natl. Acad. Sci. U.S.A. 100 (10), 6245-6250 (2003) PUBMED 12716968 REFERENCE 8 (residues 1 to 107) AUTHORS Kurtz MM, Wang R, Clements MK, Cascieri MA, Austin CP, Cunningham BR, Chicchi GG and Liu Q. TITLE Identification, localization and receptor characterization of novel mammalian substance P-like peptides JOURNAL Gene 296 (1-2), 205-212 (2002) PUBMED 12383518 REFERENCE 9 (residues 1 to 107) AUTHORS Bellucci F, Carini F, Catalani C, Cucchi P, Lecci A, Meini S, Patacchini R, Quartara L, Ricci R, Tramontana M, Giuliani S and Maggi CA. TITLE Pharmacological profile of the novel mammalian tachykinin, hemokinin 1 JOURNAL Br. J. Pharmacol. 135 (1), 266-274 (2002) PUBMED 11786503 REFERENCE 10 (residues 1 to 107) AUTHORS Zhang Y, Lu L, Furlonger C, Wu GE and Paige CJ. TITLE Hemokinin is a hematopoietic-specific tachykinin that regulates B lymphopoiesis JOURNAL Nat. Immunol. 1 (5), 392-397 (2000) PUBMED 11062498 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AY471574.1. Summary: This gene is a member of the tachykinin family of neurotransmitter-encoding genes. Tachykinin proteins are cleaved into small, secreted peptides that activate members of a family of receptor proteins. The products of this gene preferentially activate tachykinin receptor 1, and are thought to regulate peripheral endocrine and paracrine functions including blood pressure, the immune system, and endocrine gland secretion. The products of this gene lack a dibasic cleavage site found in other tachykinin proteins. Consequently, the nature of the cleavage products generated in vivo remains to be determined. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (alpha-2) uses an alternate in-frame splice site in the 5' coding region, compared to variant alpha. The resulting protein (isoform alpha-2) is shorter than 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 :: AY471574.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968540, SAMEA2142363 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..107 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q21.33" Protein 1..107 /product="tachykinin-4 isoform alpha-2 precursor" /note="tachykinin 4 (hemokinin); endokinin; preprotachykinin-C; tachykinin-4" /calculated_mol_wt=9665 sig_peptide 1..19 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2034 CDS 1..107 /gene="TAC4" /gene_synonym="EK; HK-1; HK1; PPT-C" /coded_by="NM_001077506.1:1..324" /note="isoform alpha-2 precursor is encoded by transcript variant alpha-2" /db_xref="CCDS:CCDS45727.1" /db_xref="GeneID:255061" /db_xref="HGNC:HGNC:16641" /db_xref="MIM:607833" ORIGIN 1 mlpclallll melsvctvag dggeeqtlst eaetwegagp siqlqlqevk tgkasqffgl 61 mgkrvggrpl iqprrkkayq lehtfqgllg krslftegre deaqgse // LOCUS NP_009213 381 aa linear PRI 01-SEP-2020 DEFINITION E3 ubiquitin-protein ligase RNF13 isoform 1 precursor [Homo sapiens]. ACCESSION NP_009213 VERSION NP_009213.1 DBSOURCE REFSEQ: accession NM_007282.4 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 381) 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 2 (residues 1 to 381) 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 3 (residues 1 to 381) AUTHORS van Dijk JR, Yamazaki Y and Palmer RH. TITLE Tumour-associated mutations of PA-TM-RING ubiquitin ligases RNF167/RNF13 identify the PA domain as a determinant for endosomal localization JOURNAL Biochem. J. 459 (1), 27-36 (2014) PUBMED 24387786 REMARK GeneRIF: Protease-activated point mutations are identified in RNF13 and RNF167. REFERENCE 4 (residues 1 to 381) AUTHORS Arshad M, Ye Z, Gu X, Wong CK, Liu Y, Li D, Zhou L, Zhang Y, Bay WP, Yu VC and Li P. TITLE RNF13, a RING finger protein, mediates endoplasmic reticulum stress-induced apoptosis through the inositol-requiring enzyme (IRE1alpha)/c-Jun NH2-terminal kinase pathway JOURNAL J. Biol. Chem. 288 (12), 8726-8736 (2013) PUBMED 23378536 REMARK GeneRIF: RNF13 is a critical mediator for facilitating endoplasmic reticulum stress-induced apoptosis through the activation of the IRE1alpha-TRAF2-JNK signaling pathway. REFERENCE 5 (residues 1 to 381) AUTHORS Bocock JP, Carmicle S, Madamba E and Erickson AH. TITLE Nuclear targeting of an endosomal E3 ubiquitin ligase JOURNAL Traffic 11 (6), 756-766 (2010) PUBMED 20230530 REMARK GeneRIF: analysis of nuclear targeting of Nuclear targeting of RNF13 endosomal E3 ubiquitin ligase REFERENCE 6 (residues 1 to 381) 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 381) 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 381) 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 381) 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 381) 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 DA031838.1, BC009803.1, CB109037.1 and AC117395.5. 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]. Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 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 :: SRR1660807.127260.1, BC009803.1 [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="3" /map="3q25.1" Protein 1..381 /product="E3 ubiquitin-protein ligase RNF13 isoform 1 precursor" /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=39076 sig_peptide 1..34 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (O43567.1)" /calculated_mol_wt=3756 Region 23..180 /region_name="PA_C_RZF_like" /note="PA_C-RZF_ like: Protease-associated (PA) domain C_RZF-like. This group includes various PA domain-containing proteins similar to C-RZF (chicken embryo RING zinc finger) protein. These proteins contain a C3H2C3 RING finger. C-RZF is expressed in embryo...; cd02123" /db_xref="CDD:239038" mat_peptide 35..381 /product="E3 ubiquitin-protein ligase RNF13. /id=PRO_0000056054" /note="propagated from UniProtKB/Swiss-Prot (O43567.1)" /calculated_mol_wt=39076 Site 88 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:18794910; propagated from UniProtKB/Swiss-Prot (O43567.1)" Site 130..132 /site_type="other" /note="PA/protease or protease-like domain interface [polypeptide binding]" /db_xref="CDD:239038" Site 183..203 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (O43567.1)" Region 238..283 /region_name="RING-H2_RNF167" /note="RING finger, H2 subclass, found in RING finger protein 167 (RNF167) and similar proteins; cd16797" /db_xref="CDD:319711" Region 240..281 /region_name="RING-H2 finger (C3H2C3-type)" /note="RING-H2 finger (C3H2C3-type) [structural motif]" /db_xref="CDD:319711" Site order(240,243,258,260,263,266,278,281) /site_type="other" /note="Zn binding site [ion binding]" /db_xref="CDD:319711" CDS 1..381 /gene="RNF13" /gene_synonym="EIEE73; RZF" /coded_by="NM_007282.4:785..1930" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS3146.1" /db_xref="GeneID:11342" /db_xref="HGNC:HGNC:10057" /db_xref="MIM:609247" ORIGIN 1 mllsigmlml satqvytilt vqlfaflnll pveadilayn fenasqtfdd lparfgyrlp 61 aeglkgflin skpenacepi vpppvkdnss gtfivlirrl dcnfdikvln aqragykaai 121 vhnvdsddli smgsndievl kkidipsvfi gessanslkd eftyekgghl ilvpefslpl 181 eyylipflii vgiclilivi fmitkfvqdr hrarrnrlrk dqlkklpvhk fkkgdeydvc 241 aicldeyedg dklrilpcsh ayhckcvdpw ltktkktcpv ckqkvvpsqg dsdsdtdssq 301 eenevtehtp llrplasvsa qsfgalsesr shqnmtessd yeeddnedtd ssdaeneine 361 hdvvvqlqpn gerdyniant v // LOCUS NP_001070884 369 aa linear PRI 01-SEP-2020 DEFINITION transmembrane protein 231 isoform 1 [Homo sapiens]. ACCESSION NP_001070884 VERSION NP_001070884.2 DBSOURCE REFSEQ: accession NM_001077416.2 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (residues 1 to 369) AUTHORS Maglic D, Stephen J, Malicdan MC, Guo J, Fischer R, Konzman D, Mullikin JC, Gahl WA, Vilboux T and Gunay-Aygun M. CONSRTM NISC Comparative Sequencing Program TITLE TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family JOURNAL Hum. Mutat. 37 (11), 1144-1148 (2016) PUBMED 27449316 REMARK GeneRIF: Results identified a rare gene conversion event in TMEM231, leading to loss of exon 4, which in combination with c.712G>A missense mutation caused Joubert syndrome and in combination with c.334T>G missense mutation caused Meckel-Gruber syndrome. REFERENCE 2 (residues 1 to 369) 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 369) AUTHORS Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N, Davis EE, Attie-Bitach T, Hildebrandt F, Leroux MR and Reiter JF. TITLE TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone JOURNAL J. Cell Biol. 209 (1), 129-142 (2015) PUBMED 25869670 REMARK GeneRIF: Tmem231 is critical for organizing the Meckel syndrome complex and controlling ciliary composition, defects in which cause OFD3 and MKS. REFERENCE 4 (residues 1 to 369) 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 369) AUTHORS Shaheen R, Ansari S, Mardawi EA, Alshammari MJ and Alkuraya FS. TITLE Mutations in TMEM231 cause Meckel-Gruber syndrome JOURNAL J. Med. Genet. 50 (3), 160-162 (2013) PUBMED 23349226 REMARK GeneRIF: TMEM231 represents a novel MKS locus. The very recent identification of TMEM231 mutations in Joubert syndrome supports the growing appreciation of the overlap in the molecular pathogenesis between these two ciliopathies. REFERENCE 6 (residues 1 to 369) AUTHORS Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Desilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sebire G, Maranda B, Rouleau GA, Majewski J and Michaud JL. CONSRTM FORGE Canada Consortium TITLE Mutations in TMEM231 cause Joubert syndrome in French Canadians JOURNAL J. Med. Genet. 49 (10), 636-641 (2012) PUBMED 23012439 REMARK GeneRIF: mutations in TMEM231 cause JBTS, reinforcing the relationship between this condition and the disruption of the barrier at the ciliary transition zone. REFERENCE 7 (residues 1 to 369) AUTHORS Chih B, Liu P, Chinn Y, Chalouni C, Komuves LG, Hass PE, Sandoval W and Peterson AS. TITLE A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain JOURNAL Nat. Cell Biol. 14 (1), 61-72 (2011) PUBMED 22179047 REMARK Publication Status: Online-Only REFERENCE 8 (residues 1 to 369) 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 369) 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, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K and Amemiya A (Eds.); GENEREVIEWS((R)); (1993) PUBMED 20301743 REFERENCE 10 (residues 1 to 369) AUTHORS Parisi,M. and Glass,I. TITLE Joubert Syndrome JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K 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 DC330418.1, BC063677.1, AK096650.1, BC010609.1 and BM973146.1. This sequence is a reference standard in the RefSeqGene project. On Jan 20, 2013 this sequence version replaced NP_001070884.1. Summary: This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]. Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: BC016401.1, AK096650.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..369 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16q23.1" Protein 1..369 /product="transmembrane protein 231 isoform 1" /calculated_mol_wt=41755 Region 95..348 /region_name="TM231" /note="Transmembrane protein 231; pfam10149" /db_xref="CDD:287159" CDS 1..369 /gene="TMEM231" /gene_synonym="ALYE870; JBTS20; MKS11; PRO1886" /coded_by="NM_001077416.2:16..1125" /note="isoform 1 is encoded by transcript variant 1" /db_xref="GeneID:79583" /db_xref="HGNC:HGNC:37234" /db_xref="MIM:614949" ORIGIN 1 matrrsqtws pgsrsacerc swrsmssslt rssavtargs apkprcsccw plrsrtsrrc 61 wwpsgatvsl prplcheapr arsaraglpn rlptalfnsg fwlkrssyee qptvrfqhqv 121 llvallgpes dgflawstfp afnrlqgdrl rvplvstree drnqdgktdm lhfklelplq 181 stehvlgvql iltfsyrlhr matlvmqsma flqssfpvpg sqlyvngdlr lqqkqplscg 241 gldarynisv ingtspfayd ydlthivaay qernvttvln dpnpiwlvgr aadapfvina 301 iirypvevis yqpgfwemvk fawvqyvsil liflwvferi kifvfqnqvv ttipvtvtpr 361 gdlckehls // LOCUS NP_001189477 182 aa linear PRI 01-SEP-2020 DEFINITION SYNJ2BP-COX16 protein isoform 2 [Homo sapiens]. ACCESSION NP_001189477 VERSION NP_001189477.1 DBSOURCE REFSEQ: accession NM_001202548.2 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 182) 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 AL356804.4 and FY213836.1. Summary: This locus represents naturally occurring read-through transcription between the neighboring SYNJ2BP (synaptojanin 2 binding protein) and COX16 (COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)) genes on chromosome 14. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2011]. Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, 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 :: SRR1803613.72905.1, SRR1803613.441983.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## readthrough transcript :: includes exons from GeneID 51241, 55333 ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..182 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="14" /map="14q24.2" Protein 1..182 /product="SYNJ2BP-COX16 protein isoform 2" /calculated_mol_wt=20396 Region 13..97 /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 <16..77 /region_name="DegQ" /note="Periplasmic serine protease, S1-C subfamily, contain C-terminal PDZ domain [Posttranslational modification, protein turnover, chaperones]; COG0265" /db_xref="CDD:223343" Site order(22..25,27,81..82,85..86) /site_type="other" /note="protein binding site [polypeptide binding]" /db_xref="CDD:238492" Region 100..164 /region_name="COX16" /note="Cytochrome c oxidase assembly protein COX16; pfam14138" /db_xref="CDD:290843" CDS 1..182 /gene="SYNJ2BP-COX16" /coded_by="NM_001202548.2:128..676" /note="isoform 2 is encoded by transcript variant 2" /db_xref="GeneID:100529257" /db_xref="HGNC:HGNC:48350" ORIGIN 1 mngrvdylvt eeeinltrgp sglgfnivgg tdqqyvsnds giyvsriken gaaaldgrlq 61 egdkilsvng qdlknllhqd avdlfrnagy avslrvqhrl livggsfglr efsqirydav 121 kskmdpelek klkenkisle seyekikdsk fddwknirgp rpwedpdllq grnpeslktk 181 tt // LOCUS NP_001185523 1135 aa linear PRI 01-SEP-2020 DEFINITION STON1-GTF2A1L protein isoform 3 [Homo sapiens]. ACCESSION NP_001185523 VERSION NP_001185523.1 DBSOURCE REFSEQ: accession NM_001198594.1 KEYWORDS RefSeq. SOURCE Homo 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 Kawashima-Kumagai K, Yamashiro K, Yoshikawa M, Miyake M, Ming GCC, Fan Q, Koh JY, Saito M, Sugahara-Kuroda M, Oishi M, Akagi-Kurashige Y, Nakata I, Nakanishi H, Gotoh N, Oishi A, Tamura H, Ooto S, Tsujikawa A, Kurimoto Y, Sekiryu T, Matsuda F, Khor CC, Cheng CY, Wong TY and Yoshimura N. TITLE A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration JOURNAL Sci Rep 7 (1), 7173 (2017) PUBMED 28775256 REMARK GeneRIF: GWAS for neovascular age-related macular degeneration bilaterality found new genetic loci STON1-GTF2A1L/LHCGR/FSHR Publication Status: Online-Only REFERENCE 2 (residues 1 to 1135) 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 3 (residues 1 to 1135) AUTHORS Shi Y, Zhao H, Shi Y, Cao Y, Yang D, Li Z, Zhang B, Liang X, Li T, Chen J, Shen J, Zhao J, You L, Gao X, Zhu D, Zhao X, Yan Y, Qin Y, Li W, Yan J, Wang Q, Zhao J, Geng L, Ma J, Zhao Y, He G, Zhang A, Zou S, Yang A, Liu J, Li W, Li B, Wan C, Qin Y, Shi J, Yang J, Jiang H, Xu JE, Qi X, Sun Y, Zhang Y, Hao C, Ju X, Zhao D, Ren CE, Li X, Zhang W, Zhang Y, Zhang J, Wu D, Zhang C, He L and Chen ZJ. TITLE Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome JOURNAL Nat. Genet. 44 (9), 1020-1025 (2012) PUBMED 22885925 REFERENCE 4 (residues 1 to 1135) AUTHORS Chen ZJ, Zhao H, He L, Shi Y, Qin Y, Shi Y, Li Z, You L, Zhao J, Liu J, Liang X, Zhao X, Zhao J, Sun Y, Zhang B, Jiang H, Zhao D, Bian Y, Gao X, Geng L, Li Y, Zhu D, Sun X, Xu JE, Hao C, Ren CE, Zhang Y, Chen S, Zhang W, Yang A, Yan J, Li Y, Ma J and Zhao Y. TITLE Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3 JOURNAL Nat. Genet. 43 (1), 55-59 (2011) PUBMED 21151128 REFERENCE 5 (residues 1 to 1135) 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 6 (residues 1 to 1135) 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 1135) 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 1135) 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 1135) 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 10 (residues 1 to 1135) 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 and BC143520.1. Summary: STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined. [provided by RefSeq, Oct 2010]. Transcript Variant: This variant (3) lacks two alternate exons, resulting in a loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1. The 5' UTR is incomplete due to a lack of 5'-complete transcript support for this variant and the presence of splicing ambiguity further upstream. Sequence Note: This RefSeq record was created from transcript and genomic sequence 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 :: BC143520.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2145245 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## readthrough transcript :: includes exons from GeneID 11036, 11037 ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..1135 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="2" /map="2p16.3" Protein 1..1135 /product="STON1-GTF2A1L protein isoform 3" /note="stoned B/TFIIA-alpha/beta-like factor; TFIIA-alpha and beta-like factor; General transcription factor II A, 1-like factor" /calculated_mol_wt=127195 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" Region 712..>760 /region_name="TFIIA_alpha_beta_like" /note="Precursor of TFIIA alpha and beta subunits and similar proteins; cd07976" /db_xref="CDD:199899" Region 714..1135 /region_name="TFIIA" /note="Transcription factor IIA, alpha/beta subunit; pfam03153" /db_xref="CDD:281188" Region <1078..1135 /region_name="TFIIA_alpha_beta_like" /note="Precursor of TFIIA alpha and beta subunits and similar proteins; cd07976" /db_xref="CDD:199899" Site order(1100,1103,1105) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:199899" Site order(1103,1135) /site_type="other" /note="TBP interaction site [polypeptide binding]" /db_xref="CDD:199899" CDS 1..1135 /gene="STON1-GTF2A1L" /gene_synonym="ALF; GTF2A1L; GTF2A1LF; SALF" /coded_by="NM_001198594.1:48..3455" /note="isoform 3 is encoded by transcript variant 3" /db_xref="GeneID:286749" /db_xref="HGNC:HGNC:30651" 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 qpklyrsvie 721 dviegvrnlf aeegieeqvl kdlkqlwetk vlqskatedf frnsiqsplf tlqlphslhq 781 tlqsstghly kvnvpimvte tsgragilqh piqqvfqqlg qpsviqtsvp qlnpwslqat 841 teksqrietv lqqpailpsg pvdrkhlena tsdilvspgn ehkivpeall chqesshyis 901 lpgvvfspqv sqtnsnvesv lsgsasmaqn lhdeslstsp hgalhqhvtd iqlhilknrm 961 ygcdsvkqpr nieepsnipv sekdsnsqvd lsirvtdddi geiiqvdgsg dtssneeigs 1021 trdadenefl gnidggdlkv peeeadsisn edsatnssdn edpqvnivee dplnsgddvs 1081 eqdvpdlfdt dnvivcqydk ihrsknkwkf ylkdgvmcfg grdyvfakai gdaew // LOCUS NP_073754 951 aa linear PRI 01-SEP-2020 DEFINITION protocadherin-20 precursor [Homo sapiens]. ACCESSION NP_073754 VERSION NP_073754.2 DBSOURCE REFSEQ: accession NM_022843.3 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 951) AUTHORS Gong,Z. and Hu,G. TITLE PCDH20 acts as a tumour-suppressor gene through the Wnt/beta-catenin signalling pathway in hypopharyngeal squamous cell carcinoma JOURNAL Cancer Biomark 26 (2), 209-217 (2019) PUBMED 31450490 REMARK GeneRIF: Low PCDH20 expression is associated with hypopharyngeal squamous cell carcinoma through the Wnt/beta-catenin signalling pathway. REFERENCE 2 (residues 1 to 951) AUTHORS Wu Y, Zheng S, Yao J, Li M, Yang G, Zhang N, Zhang S and Zhong B. TITLE Decreased expression of protocadherin 20 is associated with poor prognosis in hepatocellular carcinoma JOURNAL Oncotarget 8 (2), 3018-3028 (2017) PUBMED 27935871 REMARK GeneRIF: low expression of PCDH20 was found to be associated with poor OS in HCC patients; hence, this protein represents a promising potential prognostic biomarker REFERENCE 3 (residues 1 to 951) AUTHORS Vuckovic D, Dawson S, Scheffer DI, Rantanen T, Morgan A, Di Stazio M, Vozzi D, Nutile T, Concas MP, Biino G, Nolan L, Bahl A, Loukola A, Viljanen A, Davis A, Ciullo M, Corey DP, Pirastu M, Gasparini P and Girotto G. TITLE Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss JOURNAL Hum. Mol. Genet. 24 (19), 5655-5664 (2015) PUBMED 26188009 REMARK GeneRIF: Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as good candidates for modulatory genes in the auditory system. [meta-analysis] REFERENCE 4 (residues 1 to 951) AUTHORS Chen T, Long B, Ren G, Xiang T, Li L, Wang Z, He Y, Zeng Q, Hong S and Hu G. TITLE Protocadherin20 Acts as a Tumor Suppressor Gene: Epigenetic Inactivation in Nasopharyngeal Carcinoma JOURNAL J. Cell. Biochem. 116 (8), 1766-1775 (2015) PUBMED 25736877 REMARK GeneRIF: Study shows that PCDH20 expression is downregulated in nasopharyngeal carcinoma cells (NPC) and identified it as a functional tumor suppressor and an important antagonist of Wnt/beta-catenin signaling and EMT, with frequent epigenetic inactivation in NPC. REFERENCE 5 (residues 1 to 951) AUTHORS Lv J, Zhu P, Yang Z, Li M, Zhang X, Cheng J, Chen X and Lu F. TITLE PCDH20 functions as a tumour-suppressor gene through antagonizing the Wnt/beta-catenin signalling pathway in hepatocellular carcinoma JOURNAL J. Viral Hepat. 22 (2), 201-211 (2015) PUBMED 24910204 REMARK GeneRIF: In conclusion, these data here strongly suggested that PCDH20 may act as a candidate tumour suppressor in hepatocellular carcinoma. REFERENCE 6 (residues 1 to 951) AUTHORS Suzuki ST. TITLE Recent progress in protocadherin research JOURNAL Exp. Cell Res. 261 (1), 13-18 (2000) PUBMED 11082270 REMARK Review article REFERENCE 7 (residues 1 to 951) 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 8 (residues 1 to 951) 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 9 (residues 1 to 951) 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 10 (residues 1 to 951) AUTHORS Cross SH, Charlton JA, Nan X and Bird AP. TITLE Purification of CpG islands using a methylated DNA binding column JOURNAL Nat. Genet. 6 (3), 236-244 (1994) PUBMED 8012384 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK289924.1, AK094680.1, AL592490.8, AL162575.15 and AA040057.1. On Jun 12, 2008 this sequence version replaced NP_073754.1. Summary: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [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 :: AF169693.1, SRR1660809.222766.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2158188, SAMN03267763 [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..951 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="13" /map="13q21.2" Protein 1..951 /product="protocadherin-20 precursor" /note="protocadherin 13" /calculated_mol_wt=98091 sig_peptide 1..60 /note="/evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8N6Y1.2)" /calculated_mol_wt=6847 Region 70..>153 /region_name="E_set" /note="Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus; cl09101" /db_xref="CDD:298831" Site 135 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8N6Y1.2)" Region 218..316 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(220..221,279,281,312,314..315) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 324..416 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site 326 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8N6Y1.2)" Site 332 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8N6Y1.2)" Region 438..531 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(443..444,496,498,527,529..530) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 540..635 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(546..547,598,600,631,633..634) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Region 644..738 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site order(650..651,701,703,734,736..737) /site_type="other" /note="Ca2+ binding site [ion binding]" /db_xref="CDD:206637" Site 680 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8N6Y1.2)" Site 748 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8N6Y1.2)" Region 754..845 /region_name="Cadherin_repeat" /note="Cadherin tandem repeat domain; cd11304" /db_xref="CDD:206637" Site 803 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8N6Y1.2)" Site 844 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8N6Y1.2)" Site 849 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8N6Y1.2)" Site 891..911 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q8N6Y1.2)" CDS 1..951 /gene="PCDH20" /gene_synonym="PCDH13" /coded_by="NM_022843.3:365..3220" /db_xref="CCDS:CCDS9442.2" /db_xref="GeneID:64881" /db_xref="HGNC:HGNC:14257" /db_xref="MIM:614449" ORIGIN 1 mrgrgnarss qalgvswcpa twhprldmgr lhrprsstsy rnlphlflff lfvgpfsclg 61 sysratelly slneglpagv ligslaedlr llprsagrpd pqsqlpertg aewnpplsfs 121 lasrglsgqy vtldnrsgel htsaqeidre alcveggggt awsgsvsiss spsdscllll 181 dvlvlpqeyf rfvkvkiair dindnapqfp vsqisvwvpe napvntrlai ehpavdpdvg 241 ingvqtyrll dyhgmftldv eenengertp ylivmgaldr etqdqyvsii iaedggsppl 301 lgsatltigi sdindncplf tdsqinvtvy gnatvgtpia avqavdkdlg tnaqitysys 361 qkvpqaskdl fhldentgvi klfskiggsv leshkltila ngpgcipavi talvsiikvi 421 frppeivpry ianeidgvvy lkelepvntp iafftirdpe gkykvncyld gegpfrlspy 481 kpynneylle ttkpmdyelq qfyevavvaw nsegfhvkrv ikvqllddnd napiflqpli 541 eltieennsp nafltklyat dadseergqv syflgpdaps yfsldsvtgi ltvstqldre 601 ekekyrytvr avdcgkppre svatvaltvl dkndnsprfi nkdfsffvpe nfpgygeigv 661 isvtdadagr ngwvalsvvn qsdifvidtg kgmlrakvsl dreqqssytl wveavdggep 721 alsstakiti llldindnpp lvlfpqsnms yllvlpstlp gspvtevyav dkdtgmnavi 781 aysiigrrgp rpesfridpk tgnitleeal lqtdyglhrl lvkvsdhgyp eplhstvmvn 841 lfvndtvsne syiesllrke peinieekep qisiepthrk vesvscmptl valsvislgs 901 itlvtgmgiy iclrkgekhp redenlevqi plkgkidlhm rerkpmdisn i // LOCUS NP_001243525 84 aa linear PRI 01-SEP-2020 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/partial sample support SAMEA1968968, SAMEA2145893 [ECO:0000350] ##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="exocrine differentiation and proliferation factor-like protein; pancreatic progenitor cell differentiation and proliferation factor-like protein" /calculated_mol_wt=9143 Region 1..>82 /region_name="PPDFL" /note="Differentiation and proliferation regulator; pfam15060" /db_xref="CDD:373519" 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_938014 306 aa linear PRI 01-SEP-2020 DEFINITION lysM and putative peptidoglycan-binding domain-containing protein 3 isoform 1 [Homo sapiens]. ACCESSION NP_938014 XP_371760 XP_943652 VERSION NP_938014.1 DBSOURCE REFSEQ: accession NM_198273.2 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 306) AUTHORS Serebrenik YV, Hellerschmied D, Toure M, Lopez-Giraldez F, Brookner D and Crews CM. TITLE Targeted protein unfolding uncovers a Golgi-specific transcriptional stress response JOURNAL Mol. Biol. Cell 29 (11), 1284-1298 (2018) PUBMED 29851555 REFERENCE 2 (residues 1 to 306) AUTHORS Yokoyama CC, Baldridge MT, Leung DW, Zhao G, Desai C, Liu TC, Diaz-Ochoa VE, Huynh JP, Kimmey JM, Sennott EL, Hole CR, Idol RA, Park S, Storek KM, Wang C, Hwang S, Viehmann Milam A, Chen E, Kerrinnes T, Starnbach MN, Handley SA, Mysorekar IU, Allen PM, Monack DM, Dinauer MC, Doering TL, Tsolis RM, Dworkin JE, Stallings CL, Amarasinghe GK, Micchelli CA and Virgin HW. TITLE LysMD3 is a type II membrane protein without an in vivo role in the response to a range of pathogens JOURNAL J. Biol. Chem. 293 (16), 6022-6038 (2018) PUBMED 29496999 REFERENCE 3 (residues 1 to 306) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DN994993.1, BC136741.1, AL832721.1 and CR933624.1. On or before Mar 4, 2006 this sequence version replaced XP_371760.3, XP_943652.1. Transcript Variant: This variant (1) encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: BX537972.1, SRR1660807.95816.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142586, SAMEA2145245 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000315948.11/ ENSP00000314518.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..306 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="5" /map="5q14.3" Protein 1..306 /product="lysM and putative peptidoglycan-binding domain-containing protein 3 isoform 1" /note="LysM, putative peptidoglycan-binding, domain containing 3; lysM and putative peptidoglycan-binding domain-containing protein 3" /calculated_mol_wt=34407 Site 7 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q7Z3D4.2)" Site 55 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q7Z3D4.2)" Region 69..109 /region_name="LysM" /note="Lysine Motif is a small domain involved in binding peptidoglycan; cd00118" /db_xref="CDD:212030" Site 218..238 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q7Z3D4.2)" CDS 1..306 /gene="LYSMD3" /coded_by="NM_198273.2:149..1069" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS43338.1" /db_xref="GeneID:116068" /db_xref="HGNC:HGNC:26969" ORIGIN 1 magrhqnrsf plpgvqssgq vhafgncsds dileedaevy elrsrgkekv rrstsrdrld 61 diivltkdiq egdtlnaial qycctvadik rvnnlisdqd ffalrsikip vkkfssltet 121 lcppkgrqts rhssvqysse qqeilpands laysdsagsf lkevdrdieq ivkctdnkre 181 nlnevvsalt aqqmrfepdn kntqrkdpyy gadwgigwwt avvimlivgi itpvfyllyy 241 eilakvdvsh hstvdsshlh skitppsqqr emengivptk gihfsqqddh klysqdsqsp 301 aaqqet // LOCUS NP_001192210 137 aa linear PRI 01-SEP-2020 DEFINITION protein PPP5D1 isoform 1 [Homo sapiens]. ACCESSION NP_001192210 XP_003118829 XP_003119784 XP_003121000 VERSION NP_001192210.1 DBSOURCE REFSEQ: accession NM_001205281.1 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 137) 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 137) 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 137) AUTHORS Bonaldo MF, Lennon G and Soares MB. TITLE Normalization and subtraction: two approaches to facilitate gene discovery JOURNAL Genome Res. 6 (9), 791-806 (1996) PUBMED 8889548 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DA130492.1, BM718195.1, BU741810.1 and AW295427.1. On or before Apr 8, 2011 this sequence version replaced XP_003118829.1, XP_003119784.1, XP_003121000.1. ##Evidence-Data-START## Transcript exon combination :: BM718195.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..137 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="19" /map="19q13.32" Protein 1..137 /product="protein PPP5D1 isoform 1" /EC_number="3.1.3.16" /note="PPP5 TPR repeat domain-containing protein 1; protein PPP5D1" /calculated_mol_wt=15923 Region 46..119 /region_name="PPP5" /note="PPP5 TPR repeat region; pfam08321" /db_xref="CDD:285515" CDS 1..137 /gene="PPP5D1" /coded_by="NM_001205281.1:232..645" /note="isoform 1 is encoded by transcript variant 1" /db_xref="GeneID:100506012" /db_xref="HGNC:HGNC:44209" ORIGIN 1 maemrawrpl vrpslqcvkl gratarwwwv vkvkphdkda kmkyqecnki vkqkaferai 61 agdehkrsvv dsldiesmti egeysgpkle ddkvtitfmk glmqwykdqk klhqkcayqd 121 frqksgiits qdcvqtt // LOCUS NP_001264261 169 aa linear PRI 01-SEP-2020 DEFINITION keratin-associated protein 9-7 [Homo sapiens]. ACCESSION NP_001264261 XP_003118786 VERSION NP_001264261.1 DBSOURCE REFSEQ: accession NM_001277332.1 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 169) 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 AC006070.1. On Mar 30, 2013 this sequence version replaced XP_003118786.1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence because no transcripts were available for this gene. The extent of this transcript is supported by paralogous transcript alignments. CCDS Note: This gene is one of several keratin-associated protein 9 (KRTAP9) genes located on chromosome 17, as described in PMID:11279113. There is no transcript evidence specific for the location of this gene, and therefore this CCDS representation has an inferred structure based on transcript alignments from other family members. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..169 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q21.2" Protein 1..169 /product="keratin-associated protein 9-7" /note="putative keratin-associated protein 9-2-like 1; keratin associated protein 9-like 1" /calculated_mol_wt=17662 Region 4..46 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 8..167 /region_name="17 X 5 AA repeats of C-C-[VGSREQH]-[SQTPN]-[STPAI]" /note="propagated from UniProtKB/Swiss-Prot (A8MTY7.1)" Region 12..168 /region_name="Keratin_B2" /note="Keratin, high sulfur B2 protein; pfam01500" /db_xref="CDD:279797" Region 32..84 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" Region 75..119 /region_name="Keratin_B2_2" /note="Keratin, high sulfur B2 protein; pfam13885" /db_xref="CDD:290596" CDS 1..169 /gene="KRTAP9-7" /gene_synonym="KAP9.7; KRTAP9L1" /coded_by="NM_001277332.1:1..510" /db_xref="CCDS:CCDS59287.1" /db_xref="GeneID:100505724" /db_xref="HGNC:HGNC:18915" ORIGIN 1 mthccspccq ptccrttcwk pttvttcsst pccqpsccvs sccqpcchpt ccqntccrtt 61 ccqptcvtsc cqpsccstpc cqpiccgssc cgqtscgssc cqpsscapiy crrtcyhpts 121 vylpgclnqs cgssccqpcc rpaccettcc rttcfqptcv tsccqpacc // LOCUS NP_001073995 132 aa linear PRI 01-SEP-2020 DEFINITION fatty acid-binding protein 9 [Homo sapiens]. ACCESSION NP_001073995 XP_934494 VERSION NP_001073995.1 DBSOURCE REFSEQ: accession NM_001080526.2 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 132) AUTHORS Al Fayi MS, Gou X, Forootan SS, Al-Jameel W, Bao Z, Rudland PR, Cornford PA, Hussain SA and Ke Y. TITLE The increased expression of fatty acid-binding protein 9 in prostate cancer and its prognostic significance JOURNAL Oncotarget 7 (50), 82783-82797 (2016) PUBMED 27779102 REMARK GeneRIF: FABP9 is a valuable prognostic marker to predict the outcomes of prostate cancer patients, perhaps by playing an important role in prostate cancer cell invasion. REFERENCE 2 (residues 1 to 132) AUTHORS Oko R and Morales CR. TITLE A novel testicular protein, with sequence similarities to a family of lipid binding proteins, is a major component of the rat sperm perinuclear theca JOURNAL Dev. Biol. 166 (1), 235-245 (1994) PUBMED 7958448 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 AC018616.5. On Jan 18, 2007 this sequence version replaced XP_934494.2. 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. ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: upstream AUG and CDS extension is not conserved MANE Ensembl match :: ENST00000379071.4/ ENSP00000368362.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..132 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="8" /map="8q21.13" Protein 1..132 /product="fatty acid-binding protein 9" /note="fatty acid binding protein 9, testis; testis lipid binding protein; testis-type fatty acid-binding protein" /calculated_mol_wt=14961 Region 6..119 /region_name="Lipocalin" /note="Lipocalin / cytosolic fatty-acid binding protein family; pfam00061" /db_xref="CDD:306552" Site 13 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P55054; propagated from UniProtKB/Swiss-Prot (Q0Z7S8.1)" Site 14 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P55054; propagated from UniProtKB/Swiss-Prot (Q0Z7S8.1)" Site 44 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P55054; propagated from UniProtKB/Swiss-Prot (Q0Z7S8.1)" Site 91 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P55054; propagated from UniProtKB/Swiss-Prot (Q0Z7S8.1)" CDS 1..132 /gene="FABP9" /gene_synonym="PERF; PERF15; T-FABP; TLBP" /coded_by="NM_001080526.2:57..455" /db_xref="GeneID:646480" /db_xref="HGNC:HGNC:3563" ORIGIN 1 mvepflgtwk lvssenfedy mkelgvnfaa rnmaglvkpt vtisvdgkmm tirtessfqd 61 tkisfklgee fdettadnrk vkstitleng smihvqkwlg kettikrkiv dekmvveckm 121 nnivstriye kv // LOCUS NP_001182085 154 aa linear PRI 01-SEP-2020 DEFINITION transmembrane protein 35B precursor [Homo sapiens]. ACCESSION NP_001182085 XP_001724050 XP_001724978 XP_001725221 XP_003119009 VERSION NP_001182085.1 DBSOURCE REFSEQ: accession NM_001195156.1 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 154) 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 DB447268.1, BC029439.1, AA846430.1 and BU076143.1. On or before Apr 13, 2011 this sequence version replaced XP_003119009.1, XP_001724050.1, XP_001724978.1, XP_001725221.1. ##Evidence-Data-START## Transcript exon combination :: DB447268.1, SRR1803614.283964.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2144333, SAMEA2145245 [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..154 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="1" /map="1p34.3" Protein 1..154 /product="transmembrane protein 35B precursor" /note="ZMYM6 neighbor protein" /calculated_mol_wt=15082 sig_peptide 1..17 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1820 CDS 1..154 /gene="TMEM35B" /gene_synonym="ZMYM6NB" /coded_by="NM_001195156.1:43..507" /db_xref="CCDS:CCDS53296.1" /db_xref="GeneID:100506144" /db_xref="HGNC:HGNC:40021" ORIGIN 1 malllsvlrv llggffalvg laklseeisa pvsermnalf vqfaevfplk vfgyqpdpln 61 yqiavgflel laglllvmgp pmlqeisnlf lillmmgaif tlaalkesls tcipaivclg 121 fllllnvgql laqtkkvvrp trkktlstfk eswk // LOCUS NP_001243350 434 aa linear PRI 01-SEP-2020 DEFINITION glycerol-3-phosphate acyltransferase 3 [Homo sapiens]. ACCESSION NP_001243350 VERSION NP_001243350.1 DBSOURCE REFSEQ: accession NM_001256421.1 KEYWORDS RefSeq. SOURCE Homo 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 Fan SH, Wang YY, Wu ZY, Zhang ZF, Lu J, Li MQ, Shan Q, Wu DM, Sun CH, Hu B and Zheng YL. TITLE AGPAT9 suppresses cell growth, invasion and metastasis by counteracting acidic tumor microenvironment through KLF4/LASS2/V-ATPase signaling pathway in breast cancer JOURNAL Oncotarget 6 (21), 18406-18417 (2015) PUBMED 26110566 REMARK GeneRIF: Data show that 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9) inhibit cell growth by regulating expression of KLF4/LASS2/V-ATPase proteins in breast cancer. REFERENCE 2 (residues 1 to 434) AUTHORS Wang Y, Jia H, Lin H, Tan X, Du Z, Chen H, Xu Y, Han X, Zhang J, Zhao S, Yu X and Lu Y. TITLE Metastasis-associated gene, mag-1 improves tumour microenvironmental adaptation and potentiates tumour metastasis JOURNAL J. Cell. Mol. Med. 16 (12), 3037-3051 (2012) PUBMED 22985252 REMARK GeneRIF: findings identified a direct role that mag-1 played in metastasis and implicated its function in cellular adaptation to tumour microenvironment REFERENCE 3 (residues 1 to 434) 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 434) AUTHORS Shan D, Li JL, Wu L, Li D, Hurov J, Tobin JF, Gimeno RE and Cao J. TITLE GPAT3 and GPAT4 are regulated by insulin-stimulated phosphorylation and play distinct roles in adipogenesis JOURNAL J. Lipid Res. 51 (7), 1971-1981 (2010) PUBMED 20181984 REMARK GeneRIF: Results reveal a link between the lipogenic effects of insulin and microsomal GPAT3 and GPAT4, implying their importance in glycerolipid biosynthesis. REFERENCE 5 (residues 1 to 434) AUTHORS Cao J, Li JL, Li D, Tobin JF and Gimeno RE. TITLE Molecular identification of microsomal acyl-CoA:glycerol-3-phosphate acyltransferase, a key enzyme in de novo triacylglycerol synthesis JOURNAL Proc. Natl. Acad. Sci. U.S.A. 103 (52), 19695-19700 (2006) PUBMED 17170135 REFERENCE 6 (residues 1 to 434) AUTHORS Tang W, Yuan J, Chen X, Gu X, Luo K, Li J, Wan B, Wang Y and Yu L. TITLE Identification of a novel human lysophosphatidic acid acyltransferase, LPAAT-theta, which activates mTOR pathway JOURNAL J. Biochem. Mol. Biol. 39 (5), 626-635 (2006) PUBMED 17002884 REMARK GeneRIF: LPAAT-theta gene consisted of 12 exons and 11 introns, and mapped to chromosome 4q21.23, was ubiquitously expressed in 18 human tissues and overexpression of LPAAT-theta can induce mTOR-dependent p70S6K and 4EBP1 phosphorylation in HEK293T cells. REFERENCE 7 (residues 1 to 434) 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 434) AUTHORS Yamada S, Ohira M, Horie H, Ando K, Takayasu H, Suzuki Y, Sugano S, Hirata T, Goto T, Matsunaga T, Hiyama E, Hayashi Y, Ando H, Suita S, Kaneko M, Sasaki F, Hashizume K, Ohnuma N and Nakagawara A. TITLE Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas JOURNAL Oncogene 23 (35), 5901-5911 (2004) PUBMED 15221005 REFERENCE 9 (residues 1 to 434) AUTHORS Zhang J, Meng Y, Du Z, Chen Z, Ling X, Xu Y and Lu Y. TITLE [Identification of novel metastasis associated genes MAG-1 and MAG-2] JOURNAL Zhongguo Fei Ai Za Zhi 6 (6), 460-463 (2003) PUBMED 21310131 REFERENCE 10 (residues 1 to 434) 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 AC096768.3, AK055749.1, AC021192.7 and BM841009.1. Summary: This gene encodes a member of the lysophosphatidic acid acyltransferase protein family. The encoded protein is an enzyme which catalyzes the conversion of glycerol-3-phosphate to lysophosphatidic acid in the synthesis of triacylglycerol. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 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 :: SRR1803614.182686.1, SRR1660803.39947.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..434 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q21.23" Protein 1..434 /product="glycerol-3-phosphate acyltransferase 3" /EC_number="2.3.1.51" /EC_number="2.3.1.15" /note="lysophosphatidic acid acyltransferase theta; 1-acylglycerol-3-phosphate O-acyltransferase 8; MAG-1; GPAT-3; hGPAT3; 1-AGPAT 9; 1-AGP acyltransferase 9; lung cancer metastasis-associated protein 1; acyl-CoA:glycerol-3-phosphate acyltransferase 3; endoplasmic reticulum associated GPAT; 1-acyl-sn-glycerol-3-phosphate O-acyltransferase 9; 1-acyl-sn-glycerol-3-phosphate O-acyltransferase 10; testis secretory sperm-binding protein Li 213e; 1-acylglycerol-3-phosphate O-acyltransferase 9" /calculated_mol_wt=48574 Site 14..34 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q53EU6.2)" Site 68 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:23186163, ECO:0000244|PubMed:24275569; propagated from UniProtKB/Swiss-Prot (Q53EU6.2)" Site 77 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:18669648, ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q53EU6.2)" Site 137..157 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q53EU6.2)" Site 161..181 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q53EU6.2)" Region 199..408 /region_name="LPLAT_LPCAT1-like" /note="Lysophospholipid Acyltransferases (LPLATs) of Glycerophospholipid Biosynthesis: LPCAT1-like; cd07991" /db_xref="CDD:153253" Site order(229,232,234,248..251,304..306) /site_type="other" /note="putative acyl-acceptor binding pocket" /db_xref="CDD:153253" Region 229..234 /region_name="HXXXXD motif. /evidence=ECO:0000250|UniProtKB:Q9D517" /note="propagated from UniProtKB/Swiss-Prot (Q53EU6.2)" CDS 1..434 /gene="GPAT3" /gene_synonym="AGPAT 10; AGPAT10; AGPAT8; AGPAT9; HMFN0839; LPAAT-theta; MAG1" /coded_by="NM_001256421.1:220..1524" /db_xref="CCDS:CCDS3606.1" /db_xref="GeneID:84803" /db_xref="HGNC:HGNC:28157" /db_xref="MIM:610958" ORIGIN 1 megaelagki lstwltlvlg fillpsvfgv slgiseiymk ilvktlewat iriekgtpke 61 silknsasvg iiqrdespme kglsglrgrd felsdvfyfs kkgleaived evtqrfssee 121 lvswnlltrt nvnfqyislr ltmvwvlgvi vrycvllplr vtlafigisl lvigttlvgq 181 lpdsslknwl selvhltccr icvralsgti hyhnkqyrpq kggicvanht spidvliltt 241 dgcyamvgqv hgglmgiiqr amvkacphvw fersemkdrh lvtkrlkehi adkkklpili 301 fpegtcinnt svmmfkkgsf eiggtihpva ikynpqfgda fwnsskynmv syllrmmtsw 361 aivcdvwymp pmtreegeda vqfanrvksa iaiqggltel pwdgglkrak vkdifkeeqq 421 knyskmivgn gsls // LOCUS NP_001127895 110 aa linear PRI 01-SEP-2020 DEFINITION protein CDV3 homolog isoform c [Homo sapiens]. ACCESSION NP_001127895 VERSION NP_001127895.1 DBSOURCE REFSEQ: accession NM_001134423.2 KEYWORDS RefSeq. SOURCE Homo 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 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 110) AUTHORS Abuli A, Fernandez-Rozadilla C, Giraldez MD, Munoz J, Gonzalo V, Bessa X, Bujanda L, Rene JM, Lanas A, Garcia AM, Salo J, Arguello L, Vilella A, Carreno R, Jover R, Xicola RM, Llor X, Carvajal-Carmona L, Tomlinson IP, Kerr DJ, Houlston RS, Pique JM, Carracedo A, Castells A, Andreu M, Ruiz-Ponte C and Castellvi-Bel S. CONSRTM Gastrointestinal Oncology Group of the Spanish Gastroenterological Association TITLE A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22 JOURNAL Br. J. Cancer 105 (6), 870-875 (2011) PUBMED 21811255 REFERENCE 3 (residues 1 to 110) AUTHORS Fukumaru S, Horiuchi M, Kobayashi K, Jalil MA, Iijima M, Masuda M, Begum L, Higashi M, Wakana S, Kanzaki T and Saheki T. TITLE Novel mRNA molecules are induced in hypertrophied ventricles of carnitine-deficient mice and belong to a family of up-regulated gene in cells overexpressing c-erbB-2 JOURNAL Biochim. Biophys. Acta 1577 (3), 437-444 (2002) PUBMED 12359334 REMARK GeneRIF: Differential mRNA display shows increased levels of CDV3 in mice with cardiac hypertrophy. REFERENCE 4 (residues 1 to 110) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC016255.24, BG773216.1, AK096865.1 and BM676291.1. Transcript Variant: This variant (3) differs in its 5' UTR, uses an alternate in-frame splice site in the 3' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) 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 :: AK096865.1, DA888738.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..110 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q22.1" Protein 1..110 /product="protein CDV3 homolog isoform c" /note="carnitine deficiency-associated gene expressed in ventricle 3; protein CDV3 homolog" /calculated_mol_wt=11780 Region 1..99 /region_name="CDV3" /note="Carnitine deficiency-associated protein 3; pfam15359" /db_xref="CDD:317726" CDS 1..110 /gene="CDV3" /gene_synonym="H41" /coded_by="NM_001134423.2:226..558" /note="isoform c is encoded by transcript variant 3" /db_xref="CCDS:CCDS46918.1" /db_xref="GeneID:55573" /db_xref="HGNC:HGNC:26928" /db_xref="MIM:618789" ORIGIN 1 mqissekeed dnekrqdpgd nweegggggg gmekssgpwn ktapvqappa pvivtetpep 61 amtsgvyrpp garltttrkt pqgppeiysd tqfpslqsta khvesrkylk // LOCUS NP_060146 522 aa linear PRI 01-SEP-2020 DEFINITION gypsy retrotransposon integrase-like protein 1 isoform 1 [Homo sapiens]. ACCESSION NP_060146 VERSION NP_060146.2 DBSOURCE REFSEQ: accession NM_017676.2 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 522) AUTHORS Llorens,C. and Marin,I. TITLE A mammalian gene evolved from the integrase domain of an LTR retrotransposon JOURNAL Mol. Biol. Evol. 18 (8), 1597-1600 (2001) PUBMED 11470852 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DB101499.1, AK225572.1 and AC008447.8. On Oct 28, 2006 this sequence version replaced NP_060146.1. Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). ##Evidence-Data-START## Transcript exon combination :: SRR1803617.3657.1, SRR1803616.88106.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000399004.7/ ENSP00000381970.2 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="5" /map="5q21.1" Protein 1..522 /product="gypsy retrotransposon integrase-like protein 1 isoform 1" /note="Ty3/Gypsy integrase 1; zinc finger H2C2 domain-containing protein; gypsy retrotransposon integrase-like protein 1" /calculated_mol_wt=59711 Region 154..248 /region_name="rve" /note="Integrase core domain; cl21549" /db_xref="CDD:304425" Site 502 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q9NXP7.3)" CDS 1..522 /gene="GIN1" /gene_synonym="GIN-1; TGIN1; ZH2C2" /coded_by="NM_017676.2:83..1651" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS43349.1" /db_xref="GeneID:54826" /db_xref="HGNC:HGNC:25959" ORIGIN 1 mvrsgkngdl hlkqiayykr tgeyhsttlp sersgirraa kkfvfkekkl fyvgkdrkqn 61 rlvivseeek kkvlrechen dsgahhgisr tltlvesnyy wtsvtndvkq wvyacqhcqv 121 akntvivapk qhllkvenpw slvtvdlmgp fhtsnrshvy aiimtdlftk wivilplcdv 181 sasevskaii nifflygppq kiimdqrdef iqqinielyr lfgikqivis htsgtvnpte 241 stpntikafl skhcadhpnn wddhlsavsf afnvthlept kntpyfqmfs rnpympetsd 301 slhevdgdnt smfakildai keadkimenk ttslgqmenn nldelnkski ivkkkpkqln 361 pfhlkvghev lrqrknwwkd grfqsewvgp cvidyitesg cavlrdntgv rlkrpikmsh 421 lkpyiresse qeslyllqgs vvadhdyigl peipigayqa nilvedatig ivdnelltss 481 kdrelleyrn tkispliddh sslekqtfsl ldssnqvley ls // LOCUS NP_057166 588 aa linear PRI 01-SEP-2020 DEFINITION mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform b [Homo sapiens]. ACCESSION NP_057166 VERSION NP_057166.4 DBSOURCE REFSEQ: accession NM_016082.4 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 588) AUTHORS Fakruddin M, Wei FY, Emura S, Matsuda S, Yasukawa T, Kang D and Tomizawa K. TITLE Cdk5rap1-mediated 2-methylthio-N6-isopentenyladenosine modification is absent from nuclear-derived RNA species JOURNAL Nucleic Acids Res. 45 (20), 11954-11961 (2017) PUBMED 28981754 REMARK GeneRIF: The mitochondrial localization of ms2i6A modification was diminished in HeLa cells when transfected with siRNA against Cdk5 regulatory subunit-associated protein 1 (Cdk5rap1), suggesting that the modification occurs in tRNAs in mitochondria. REFERENCE 2 (residues 1 to 588) 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, Trigg 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 588) AUTHORS Wei FY, Zhou B, Suzuki T, Miyata K, Ujihara Y, Horiguchi H, Takahashi N, Xie P, Michiue H, Fujimura A, Kaitsuka T, Matsui H, Koga Y, Mohri S, Suzuki T, Oike Y and Tomizawa K. TITLE Cdk5rap1-mediated 2-methylthio modification of mitochondrial tRNAs governs protein translation and contributes to myopathy in mice and humans JOURNAL Cell Metab. 21 (3), 428-442 (2015) PUBMED 25738458 REMARK GeneRIF: Which resulted in respiratory defects in Cdk5rap1 knockout (KO) mice. REFERENCE 4 (residues 1 to 588) AUTHORS Wang H, Wei L, Li C, Zhou J and Li Z. TITLE CDK5RAP1 deficiency induces cell cycle arrest and apoptosis in human breast cancer cell line by the ROS/JNK signaling pathway JOURNAL Oncol. Rep. 33 (3), 1089-1096 (2015) PUBMED 25607831 REMARK GeneRIF: data indicated that CDK5RAP1 deficiency induced cell cycle arrest and apoptosis in human breast cancer REFERENCE 5 (residues 1 to 588) AUTHORS Reiter V, Matschkal DM, Wagner M, Globisch D, Kneuttinger AC, Muller M and Carell T. TITLE The CDK5 repressor CDK5RAP1 is a methylthiotransferase acting on nuclear and mitochondrial RNA JOURNAL Nucleic Acids Res. 40 (13), 6235-6240 (2012) PUBMED 22422838 REMARK GeneRIF: CDK5RAP1 is a radical SAM enzyme, which postsynthetically converts the RNA modification N6-isopentenyladenosine into 2-methylthio-N6-isopentenyladenosine. REFERENCE 6 (residues 1 to 588) 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 588) AUTHORS Zou X, Ji C, Jin F, Liu J, Wu M, Zheng H, Wang Y, Li X, Xu J, Gu S, Xie Y and Mao Y. TITLE Cloning, characterization and expression of CDK5RAP1_v3 and CDK5RAP1_v4, two novel splice variants of human CDK5RAP1 JOURNAL Genes Genet. Syst. 79 (3), 177-182 (2004) PUBMED 15329498 REFERENCE 8 (residues 1 to 588) AUTHORS Ching YP, Pang AS, Lam WH, Qi RZ and Wang JH. TITLE Identification of a neuronal Cdk5 activator-binding protein as Cdk5 inhibitor JOURNAL J. Biol. Chem. 277 (18), 15237-15240 (2002) PUBMED 11882646 REFERENCE 9 (residues 1 to 588) AUTHORS Wang X, Ching YP, Lam WH, Qi Z, Zhang M and Wang JH. TITLE Identification of a common protein association region in the neuronal Cdk5 activator JOURNAL J. Biol. Chem. 275 (41), 31763-31769 (2000) PUBMED 10915792 REFERENCE 10 (residues 1 to 588) AUTHORS Ching YP, Qi Z and Wang JH. TITLE Cloning of three novel neuronal Cdk5 activator binding proteins JOURNAL Gene 242 (1-2), 285-294 (2000) PUBMED 10721722 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DC427896.1, DA565688.1, DR156307.1, CX785345.1, BM792566.1, AK027449.1 and AA721451.1. On May 16, 2013 this sequence version replaced NP_057166.3. Summary: This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]. 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 an alternate AUG and result in an isoform (b) with a distinct and longer 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 :: AK027449.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 22422838 ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..588 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20q11.21" Protein 1..588 /product="mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform b" /EC_number="2.8.4.3" /note="CDK5 activator-binding protein C42; mt-tRNA-2-methylthio-N6-dimethylallyladenosine synthase; mt-tRNA-N6-(dimethylallyl)adenosine(37) methylthiotransferase; mitochondrial tRNA methylthiotransferase CDK5RAP1" /calculated_mol_wt=65977 Region 89..575 /region_name="PRK14329" /note="(dimethylallyl)adenosine tRNA methylthiotransferase; Provisional" /db_xref="CDD:237676" Region 102..205 /region_name="UPF0004" /note="Uncharacterized protein family UPF0004; pfam00919" /db_xref="CDD:279287" Region 502..576 /region_name="TRAM" /note="TRAM domain; pfam01938" /db_xref="CDD:280171" CDS 1..588 /gene="CDK5RAP1" /gene_synonym="C20orf34; C42; CGI-05; HSPC167" /coded_by="NM_016082.4:12..1778" /note="isoform b is encoded by transcript variant 2" /db_xref="GeneID:51654" /db_xref="HGNC:HGNC:15880" /db_xref="MIM:608200" ORIGIN 1 mtrpevaaer kslvyersgg pvrgsdlpae ltlrdpghcc ccgsperqed garkdfssrl 61 aagptfqhfl ksasapqekl ssevedpppy lmmdellgrq rkvyletygc qmnvndteia 121 wsilqksgyl rtsnlqeadv illvtcsire kaeqtiwnrl hqlkalktrr prsrvplrig 181 ilgcmaerlk eeilnrekmv dilagpdayr dlprllavae sgqqaanvll sldetyadvm 241 pvqtsasats afvsimrgcd nmcsycivpf trgrersrpi asileevkkl seqglkevtl 301 lgqnvnsfrd nsevqfnsav ptnlsrgftt nyktkqgglr fahlldqvsr vdpemrirft 361 sphpkdfpde vlqliherdn ickqihlpaq sgssrvleam rrgysreayv elvhhiresi 421 pgvslssdfi agfcgeteed hvqtvsllre vqynmgflfa ysmrqktray hrlkddvpee 481 vklrrleeli tifreeatka nqtsvgctql vlveglskrs atdlcgrndg nlkvifpdae 541 medvnnpglr vraqpgdyvl vkitsassqt lrghvlcrtt lrdssayc // LOCUS NP_001269692 156 aa linear PRI 01-SEP-2020 DEFINITION protein CDV3 homolog isoform d [Homo sapiens]. ACCESSION NP_001269692 VERSION NP_001269692.1 DBSOURCE REFSEQ: accession NM_001282763.1 KEYWORDS RefSeq. SOURCE Homo 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 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 156) AUTHORS Abuli A, Fernandez-Rozadilla C, Giraldez MD, Munoz J, Gonzalo V, Bessa X, Bujanda L, Rene JM, Lanas A, Garcia AM, Salo J, Arguello L, Vilella A, Carreno R, Jover R, Xicola RM, Llor X, Carvajal-Carmona L, Tomlinson IP, Kerr DJ, Houlston RS, Pique JM, Carracedo A, Castells A, Andreu M, Ruiz-Ponte C and Castellvi-Bel S. CONSRTM Gastrointestinal Oncology Group of the Spanish Gastroenterological Association TITLE A two-phase case-control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22 JOURNAL Br. J. Cancer 105 (6), 870-875 (2011) PUBMED 21811255 REFERENCE 3 (residues 1 to 156) AUTHORS Fukumaru S, Horiuchi M, Kobayashi K, Jalil MA, Iijima M, Masuda M, Begum L, Higashi M, Wakana S, Kanzaki T and Saheki T. TITLE Novel mRNA molecules are induced in hypertrophied ventricles of carnitine-deficient mice and belong to a family of up-regulated gene in cells overexpressing c-erbB-2 JOURNAL Biochim. Biophys. Acta 1577 (3), 437-444 (2002) PUBMED 12359334 REMARK GeneRIF: Differential mRNA display shows increased levels of CDV3 in mice with cardiac hypertrophy. REFERENCE 4 (residues 1 to 156) 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC016255.24, BG773216.1, AF103803.1, AK096865.1 and BM676291.1. Transcript Variant: This variant (5) has multiple differences in its UTRs and the coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus and distinct C-terminus, compared to isoform a. Both variants 4 and 5 encode the same isoform. ##Evidence-Data-START## Transcript exon combination :: BG773216.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..156 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q22.1" Protein 1..156 /product="protein CDV3 homolog isoform d" /note="carnitine deficiency-associated gene expressed in ventricle 3; protein CDV3 homolog" /calculated_mol_wt=17178 Region 1..99 /region_name="CDV3" /note="Carnitine deficiency-associated protein 3; pfam15359" /db_xref="CDD:317726" CDS 1..156 /gene="CDV3" /gene_synonym="H41" /coded_by="NM_001282763.1:185..655" /note="isoform d is encoded by transcript variant 5" /db_xref="CCDS:CCDS75013.1" /db_xref="GeneID:55573" /db_xref="HGNC:HGNC:26928" /db_xref="MIM:618789" ORIGIN 1 mqissekeed dnekrqdpgd nweegggggg gmekssgpwn ktapvqappa pvivtetpep 61 amtsgvyrpp garltttrkt pqgppeiysd tqfpslqsta khvesrkdke meksfevvrh 121 knrgrdevsk nqalklqldn qyavlenqks shsqyn // LOCUS NP_001137377 166 aa linear PRI 01-SEP-2020 DEFINITION probable peptide chain release factor C12orf65, mitochondrial [Homo sapiens]. ACCESSION NP_001137377 VERSION NP_001137377.1 DBSOURCE REFSEQ: accession NM_001143905.2 KEYWORDS RefSeq. SOURCE Homo 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 Ayyub SA, Gao F, Lightowlers RN and Chrzanowska-Lightowlers ZM. TITLE Rescuing stalled mammalian mitoribosomes - what can we learn from bacteria? JOURNAL J. Cell. Sci. 133 (1) (2020) PUBMED 31896602 REMARK Review article Publication Status: Online-Only REFERENCE 2 (residues 1 to 166) AUTHORS Lin SZ, Sun XT and Ma HW. TITLE [Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report] JOURNAL Zhongguo Dang Dai Er Ke Za Zhi 21 (11), 1094-1098 (2019) PUBMED 31753091 REMARK GeneRIF: results showed two compound heterozygous mutations, c.394C>T and c.447_449delGGAinsGT, in the C12orf65 gene. The former mutation came from her father REFERENCE 3 (residues 1 to 166) AUTHORS Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N and Matsumoto N. TITLE Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome JOURNAL J. Neurol. Neurosurg. Psychiatry 87 (2), 212-216 (2016) PUBMED 25995486 REMARK GeneRIF: We demonstrate that the identical nonsense mutation in C12orf65 can result in different clinical features REFERENCE 4 (residues 1 to 166) AUTHORS Wesolowska M, Gorman GS, Alston CL, Pajak A, Pyle A, He L, Griffin H, Chinnery PF, Miller JA, Schaefer AM, Taylor RW, Lightowlers RN and Chrzanowska-Lightowlers ZM. TITLE Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease JOURNAL J Neuromuscul Dis 2 (4), 409-419 (2015) PUBMED 27858754 REFERENCE 5 (residues 1 to 166) AUTHORS Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochmuller H, Karcagi V, Taylor RW, Chinnery PF and Horvath R. TITLE Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene JOURNAL J Neuromuscul Dis 1 (1), 55-63 (2014) PUBMED 26380172 REFERENCE 6 (residues 1 to 166) AUTHORS Kogure H, Hikawa Y, Hagihara M, Tochio N, Koshiba S, Inoue Y, Guntert P, Kigawa T, Yokoyama S and Nameki N. TITLE Solution structure and siRNA-mediated knockdown analysis of the mitochondrial disease-related protein C12orf65 JOURNAL Proteins 80 (11), 2629-2642 (2012) PUBMED 22821833 REMARK GeneRIF: Knockdown of C12orf65 resulted in increased reactive oxidative species production and apoptosis, leading to inhibition of cell proliferation. REFERENCE 7 (residues 1 to 166) AUTHORS Duarte I, Nabuurs SB, Magno R and Huynen M. TITLE Evolution and diversification of the organellar release factor family JOURNAL Mol. Biol. Evol. 29 (11), 3497-3512 (2012) PUBMED 22688947 REFERENCE 8 (residues 1 to 166) AUTHORS Antonicka H, Ostergaard E, Sasarman F, Weraarpachai W, Wibrand F, Pedersen AM, Rodenburg RJ, van der Knaap MS, Smeitink JA, Chrzanowska-Lightowlers ZM and Shoubridge EA. TITLE Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect JOURNAL Am. J. Hum. Genet. 87 (1), 115-122 (2010) PUBMED 20598281 REMARK GeneRIF: C12orf65 might play a role in recycling abortive peptidyl-tRNA species, released from the ribosome during the elongation phase of translation. REFERENCE 9 (residues 1 to 166) AUTHORS Richter R, Rorbach J, Pajak A, Smith PM, Wessels HJ, Huynen MA, Smeitink JA, Lightowlers RN and Chrzanowska-Lightowlers ZM. TITLE A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome JOURNAL EMBO J. 29 (6), 1116-1125 (2010) PUBMED 20186120 REFERENCE 10 (residues 1 to 166) AUTHORS Hedera,P. TITLE Hereditary Spastic Paraplegia Overview JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K 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 AC073857.30, BI850864.1 and AC068768.31. SUMMARY: This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 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 :: BI850864.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..166 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q24.31" Protein 1..166 /product="probable peptide chain release factor C12orf65, mitochondrial" /calculated_mol_wt=18697 Region 53..>116 /region_name="RF-1" /note="RF-1 domain; pfam00472" /db_xref="CDD:306878" Region 57..121 /region_name="GGQ domain. /evidence=ECO:0000250" /note="propagated from UniProtKB/Swiss-Prot (Q9H3J6.1)" CDS 1..166 /gene="C12orf65" /gene_synonym="COXPD7; SPG55" /coded_by="NM_001143905.2:180..680" /db_xref="CCDS:CCDS9244.1" /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 NP_694953 1156 aa linear PRI 01-SEP-2020 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 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 2 (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 3 (residues 1 to 1156) 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 1156) 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 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="CILP-2; cartilage intermediate layer protein-like protein 2" /calculated_mol_wt=124344 sig_peptide 1..20 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1967 Region 58..143 /region_name="Mucin2_WxxW" /note="Mucin-2 protein WxxW repeating region; pfam13330" /db_xref="CDD:290069" 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:290350" Site 276 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8IUL8.2)" Region 292..377 /region_name="I-set" /note="Immunoglobulin I-set domain; pfam07679" /db_xref="CDD:254352" Region 306..366 /region_name="IGc2" /note="Immunoglobulin C-2 Type; smart00408" /db_xref="CDD:197706" Site 308 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8IUL8.2)" Site 329 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8IUL8.2)" Region <412..466 /region_name="GHB_like" /note="Glycoprotein hormone beta chain homologues; cl21545" /db_xref="CDD:304424" Region 475..>526 /region_name="CarbopepD_reg_2" /note="CarboxypepD_reg-like domain; pfam13715" /db_xref="CDD:290434" 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_001271349 235 aa linear PRI 01-SEP-2020 DEFINITION lysM and putative peptidoglycan-binding domain-containing protein 4 isoform d [Homo sapiens]. ACCESSION NP_001271349 XP_005254926 VERSION NP_001271349.1 DBSOURCE REFSEQ: accession NM_001284420.1 KEYWORDS RefSeq. SOURCE Homo 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 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 235) 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, DA594971.1 and AC022692.11. On Oct 1, 2013 this sequence version replaced XP_005254926.1. Transcript Variant: This variant (5) differs in the 5' UTR, lacks three alternate exons in the coding region, and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (d) 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 :: SRR1163657.469440.1, DA594971.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..235 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q26.3" Protein 1..235 /product="lysM and putative peptidoglycan-binding domain-containing protein 4 isoform d" /note="LysM, putative peptidoglycan-binding, domain containing 4; lysM and putative peptidoglycan-binding domain-containing protein 4" /calculated_mol_wt=25318 Region 147..>233 /region_name="CyoA" /note="Heme/copper-type cytochrome/quinol oxidase, subunit 2 [Energy production and conversion]; COG1622" /db_xref="CDD:224537" CDS 1..235 /gene="LYSMD4" /coded_by="NM_001284420.1:2..709" /note="isoform d is encoded by transcript variant 5" /db_xref="CCDS:CCDS73788.1" /db_xref="GeneID:145748" /db_xref="HGNC:HGNC:26571" ORIGIN 1 mfvanpqarw qlrvagrgsr vagrrsrrsl gaevadikkv nnfireqdly alksvkipvr 61 nhgilmethk elkpllspss ettvtvelpe adragagtga qagqlmgffk gidqdierav 121 qseiflhesy cmdtshqpll pappktpmdg adcgiqwwna vfimlligiv lpvfylvyfk 181 iqasgetpns lnttvipngs mamgtvpgqa prlavavpav tsadsqfsqt tqags // LOCUS NP_001070971 96 aa linear PRI 01-SEP-2020 DEFINITION tachykinin-4 isoform beta precursor [Homo sapiens]. ACCESSION NP_001070971 VERSION NP_001070971.1 DBSOURCE REFSEQ: accession NM_001077503.1 KEYWORDS RefSeq. SOURCE Homo 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 Gonzalez-Santana A, Marrero-Hernandez S, Dorta I, Hernandez M, Pinto FM, Baez D, Bello AR, Candenas L and Almeida TA. TITLE Altered expression of the tachykinins substance P/neurokinin A/hemokinin-1 and their preferred neurokinin 1/neurokinin 2 receptors in uterine leiomyomata JOURNAL Fertil. Steril. 106 (6), 1521-1529 (2016) PUBMED 27456549 REMARK GeneRIF: Expression substance P/neurokinin A/hemokinin-1 and their preferred neurokinin 1/neurokinin 2 receptors are dysregulated in uterine leiomyomata. REFERENCE 2 (residues 1 to 96) AUTHORS Zhang Y, Li X, Li J, Hu H, Miao X, Song X, Yang W, Zeng Q, Mou L and Wang R. TITLE Human hemokinin-1 promotes migration of melanoma cells and increases MMP-2 and MT1-MMP expression by activating tumor cell NK1 receptors JOURNAL Peptides 83, 8-15 (2016) PUBMED 27458061 REMARK GeneRIF: Kinase activation led to increased MMP-2 and MT1-MMP expression and melanoma cell migration induced by hHK-1. Thus, hHK-1 and the NK1 receptor are critical to melanoma cell migration and each may be a promising chemotherapeutic target REFERENCE 3 (residues 1 to 96) AUTHORS Garcia-Ortega J, Pinto FM, Prados N, Bello AR, Almeida TA, Fernandez-Sanchez M and Candenas L. TITLE Expression of Tachykinins and Tachykinin Receptors and Interaction with Kisspeptin in Human Granulosa and Cumulus Cells JOURNAL Biol. Reprod. 94 (6), 124 (2016) PUBMED 27146034 REMARK GeneRIF: expressed in mural granulosa and cumulus cells REFERENCE 4 (residues 1 to 96) AUTHORS Song H, Yin W, Zeng Q, Jia H, Lin L, Liu X, Mu L and Wang R. TITLE Hemokinins modulate endothelium function and promote angiogenesis through neurokinin-1 receptor JOURNAL Int. J. Biochem. Cell Biol. 44 (9), 1410-1421 (2012) PUBMED 22554585 REMARK GeneRIF: HKs emerge as pivotal endogenous regulators of angiogenesis through neurokinin-1 receptor REFERENCE 5 (residues 1 to 96) AUTHORS Cunin P, Caillon A, Corvaisier M, Garo E, Scotet M, Blanchard S, Delneste Y and Jeannin P. TITLE The tachykinins substance P and hemokinin-1 favor the generation of human memory Th17 cells by inducing IL-1beta, IL-23, and TNF-like 1A expression by monocytes JOURNAL J. Immunol. 186 (7), 4175-4182 (2011) PUBMED 21368235 REMARK GeneRIF: HK-1 and substance P are novel T helper (Th)17 cell-inducing factors that may act locally on memory T cells to amplify inflammatory responses. REFERENCE 6 (residues 1 to 96) AUTHORS Page NM. TITLE Hemokinins and endokinins JOURNAL Cell. Mol. Life Sci. 61 (13), 1652-1663 (2004) PUBMED 15224188 REMARK Review article REFERENCE 7 (residues 1 to 96) AUTHORS Page NM, Bell NJ, Gardiner SM, Manyonda IT, Brayley KJ, Strange PG and Lowry PJ. TITLE Characterization of the endokinins: human tachykinins with cardiovascular activity JOURNAL Proc. Natl. Acad. Sci. U.S.A. 100 (10), 6245-6250 (2003) PUBMED 12716968 REFERENCE 8 (residues 1 to 96) AUTHORS Kurtz MM, Wang R, Clements MK, Cascieri MA, Austin CP, Cunningham BR, Chicchi GG and Liu Q. TITLE Identification, localization and receptor characterization of novel mammalian substance P-like peptides JOURNAL Gene 296 (1-2), 205-212 (2002) PUBMED 12383518 REFERENCE 9 (residues 1 to 96) AUTHORS Bellucci F, Carini F, Catalani C, Cucchi P, Lecci A, Meini S, Patacchini R, Quartara L, Ricci R, Tramontana M, Giuliani S and Maggi CA. TITLE Pharmacological profile of the novel mammalian tachykinin, hemokinin 1 JOURNAL Br. J. Pharmacol. 135 (1), 266-274 (2002) PUBMED 11786503 REFERENCE 10 (residues 1 to 96) AUTHORS Zhang Y, Lu L, Furlonger C, Wu GE and Paige CJ. TITLE Hemokinin is a hematopoietic-specific tachykinin that regulates B lymphopoiesis JOURNAL Nat. Immunol. 1 (5), 392-397 (2000) PUBMED 11062498 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF515829.1. Summary: This gene is a member of the tachykinin family of neurotransmitter-encoding genes. Tachykinin proteins are cleaved into small, secreted peptides that activate members of a family of receptor proteins. The products of this gene preferentially activate tachykinin receptor 1, and are thought to regulate peripheral endocrine and paracrine functions including blood pressure, the immune system, and endocrine gland secretion. The products of this gene lack a dibasic cleavage site found in other tachykinin proteins. Consequently, the nature of the cleavage products generated in vivo remains to be determined. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (beta) uses an alternate in-frame splice site in the 5' coding region and skips an alternate in-frame exon in the 3' coding region, compared to variant alpha. The resulting protein (isoform beta) is shorter than 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 :: AF515829.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2151741, SAMEA2153031 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..96 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="17" /map="17q21.33" Protein 1..96 /product="tachykinin-4 isoform beta precursor" /note="tachykinin 4 (hemokinin); endokinin; preprotachykinin-C; tachykinin-4" /calculated_mol_wt=8334 sig_peptide 1..19 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2034 CDS 1..96 /gene="TAC4" /gene_synonym="EK; HK-1; HK1; PPT-C" /coded_by="NM_001077503.1:1..291" /note="isoform beta precursor is encoded by transcript variant beta" /db_xref="CCDS:CCDS42359.1" /db_xref="GeneID:255061" /db_xref="HGNC:HGNC:16641" /db_xref="MIM:607833" ORIGIN 1 mlpclallll melsvctvag dggeeqtlst eaetwegagp siqlqlqevk tgkasqffgl 61 mgkrvgayql ehtfqgllgk rslftegred eaqgse // LOCUS NP_665696 1210 aa linear PRI 01-SEP-2020 DEFINITION pleckstrin homology-like domain family B member 2 isoform c [Homo sapiens]. ACCESSION NP_665696 VERSION NP_665696.1 DBSOURCE REFSEQ: accession NM_145753.2 KEYWORDS RefSeq. SOURCE Homo 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 Chen G, Zhou T, Li Y, Yu Z and Sun L. TITLE p53 target miR-29c-3p suppresses colon cancer cell invasion and migration through inhibition of PHLDB2 JOURNAL Biochem. Biophys. Res. Commun. 487 (1), 90-95 (2017) PUBMED 28392396 REMARK GeneRIF: Collectively, our findings present the first to elucidate that miR-29c is a direct p53 target gene, and also identify PHLDB2 as an important miR-29c target gene involved in colon cancer metastasis. REFERENCE 2 (residues 1 to 1210) AUTHORS Lim BC, Matsumoto S, Yamamoto H, Mizuno H, Kikuta J, Ishii M and Kikuchi A. TITLE Prickle1 promotes focal adhesion disassembly in cooperation with the CLASP-LL5beta complex in migrating cells JOURNAL J. Cell. Sci. 129 (16), 3115-3129 (2016) PUBMED 27378169 REMARK GeneRIF: Prickle1 localized to the membrane through its farnesyl moiety, and the membrane localization was necessary for Prickle1 to regulate migration, to bind to CLASPs and LL5beta, and to promote microtubule targeting of focal adhesions. REFERENCE 3 (residues 1 to 1210) 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 4 (residues 1 to 1210) 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 5 (residues 1 to 1210) AUTHORS Astro V, Chiaretti S, Magistrati E, Fivaz M and de Curtis I. TITLE Liprin-alpha1, ERC1 and LL5 define polarized and dynamic structures that are implicated in cell migration JOURNAL J. Cell. Sci. 127 (Pt 17), 3862-3876 (2014) PUBMED 24982445 REMARK GeneRIF: Liprin-alpha1, ERC1a and LL5 also define new highly polarized and dynamic cytoplasmic structures uniquely localized near the protruding cell edge REFERENCE 6 (residues 1 to 1210) AUTHORS Lansbergen G, Grigoriev I, Mimori-Kiyosue Y, Ohtsuka T, Higa S, Kitajima I, Demmers J, Galjart N, Houtsmuller AB, Grosveld F and Akhmanova A. TITLE CLASPs attach microtubule plus ends to the cell cortex through a complex with LL5beta JOURNAL Dev. Cell 11 (1), 21-32 (2006) PUBMED 16824950 REMARK GeneRIF: LL5beta and ELKS can form a PIP3-regulated cortical platform to which CLASPs attach distal microtubule ends. REFERENCE 7 (residues 1 to 1210) 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 1210) 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 1210) AUTHORS Paranavitane V, Coadwell WJ, Eguinoa A, Hawkins PT and Stephens L. TITLE LL5beta is a phosphatidylinositol (3,4,5)-trisphosphate sensor that can bind the cytoskeletal adaptor, gamma-filamin JOURNAL J. Biol. Chem. 278 (2), 1328-1335 (2003) PUBMED 12376540 REFERENCE 10 (residues 1 to 1210) 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 DA438817.1, BC069194.1, AK315050.1, AC060225.12 and AW264132.1. 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. Publication Note: This RefSeq record 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 :: AF506820.1 [ECO:0000331] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1210 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3q13.2" Protein 1..1210 /product="pleckstrin homology-like domain family B member 2 isoform c" /note="LL5 beta; protein LL5-beta" /calculated_mol_wt=136756 Region 583..747 /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:295325" Site 671..676 /site_type="other" /note="linker region" /db_xref="CDD:238103" Region <993..>1062 /region_name="SPFH_like" /note="core domain of the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily; cl19107" /db_xref="CDD:302763" Region 1099..1203 /region_name="PH_PHLDB1_2" /note="Pleckstrin homology-like domain-containing family B member 2 pleckstrin homology (PH) domain; cd14673" /db_xref="CDD:270192" Region 1102..1198 /region_name="PH" /note="PH domain; pfam00169" /db_xref="CDD:278594" CDS 1..1210 /gene="PHLDB2" /gene_synonym="LL5b; LL5beta" /coded_by="NM_145753.2:412..4044" /note="isoform c is encoded by transcript variant 4" /db_xref="CCDS:CCDS2962.1" /db_xref="GeneID:90102" /db_xref="HGNC:HGNC:29573" /db_xref="MIM:610298" ORIGIN 1 meehsyiqke ldlqngslee dsvvhsvend sqnmmeslsp kkyssslrfk angdysgsyl 61 tlsqpvpakr spsplgtsvr sspslakiqg skqfsydgtd knipmkpptp llnttsslsg 121 yplgradfdh ytgrdseral rlsekppysk yssrhkshdn vyslgglegr kasgsllamw 181 ngsslsdagp ppisrsgaas mpsspkqark msiqdslalq pkltrhkela seninlrtrk 241 ysssslshmg aysrslprly ratenqltpl slpprnslgn skrtklgekd lphsvidndn 301 ylnfsslssg alpyktsase gnpyvsstls vpasprvark mllastssca sddfdqasyv 361 gtnpshslla gesdrvfatr rnfscgsvef deadleslrq asgtpqpalr erkssissis 421 grddlmdyhr rqreerlreq emerlerqrl etilslcaey tkpdsrlstg ttvedvqkin 481 keleklqlsd eesvfeealm spdtryrchr kdslpdadla scgslsqssa sfftprstrn 541 dellsdltrt ppppsstfpk assessylsi lpktpegise eqrsqelaam eetrivilnn 601 leelkqkikd indqmdesfr eldmecalld geqksettel mkekeildhl nrkiaelekn 661 ivgektkdad lldveskhfe dlefqqlehe srldeekenl tqqllrevae yqrnivsrke 721 kisalkkqan hivqqaqreq dhfvkeknnl immlqreken lcnlekkyss lsggkgfpvn 781 pntlkegyis vneinepcgn stnlspstqf padadavate patavlasqp qskehfrsle 841 erkkqhkegl ylsdtlprkk ttssisphfs satmgrsitp kahlplgqsn scgsvlppsl 901 aamakdsesr rmlrgynhqq mseghrqkse fynrtasesn vylnsfhypd hsykdqafdt 961 lsldssdsme tsisacspdn issastsnia rieemerllk qahaektrll esreremeak 1021 kraleeekrr reilekrlqe etsqrqklie kevkirerqr aqarpltryl pvrkedfdlr 1081 shvetaghni dtcyhvsite ktcrgflikm ggkiktwkkr wfvfdrnkrt fsyyadkhet 1141 klkgviyfqa ieevyydhlk nankspnpll tfsvkthdri yymvapspea mriwmdvivt 1201 gaegythfll // LOCUS NP_001128619 444 aa linear PRI 01-SEP-2020 DEFINITION metal cation symporter ZIP8 isoform b precursor [Homo sapiens]. ACCESSION NP_001128619 VERSION NP_001128619.1 DBSOURCE REFSEQ: accession NM_001135147.1 KEYWORDS RefSeq. SOURCE Homo 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 Xu L, Wang Y, Wu Z, Dai Z, Liu Z, Qiu Y, Cheng JC and Zhu Z. TITLE A Novel Coding Variant in SLC39A8 Is Associated With Adolescent Idiopathic Scoliosis in Chinese Han Population JOURNAL Spine 45 (4), 226-233 (2020) PUBMED 31513097 REMARK GeneRIF: A novel coding variant of SLC39A8 is found to be significantly associated with adolescent Idiopathic Scoliosis in a Chinese Han population. REFERENCE 2 (residues 1 to 444) AUTHORS Steimle BL, Smith FM and Kosman DJ. TITLE The solute carriers ZIP8 and ZIP14 regulate manganese accumulation in brain microvascular endothelial cells and control brain manganese levels JOURNAL J. Biol. Chem. 294 (50), 19197-19208 (2019) PUBMED 31699897 REMARK GeneRIF: solute carriers ZIP8 and ZIP14 regulate manganese accumulation in brain microvascular endothelial cells and control brain manganese levels REFERENCE 3 (residues 1 to 444) AUTHORS Jian X, Chen J, Li Z, Song Z, Zhou J, Xu W, Liu Y, Shen J, Wang Y, Yi Q and Shi Y. TITLE SLC39A8 is a risk factor for schizophrenia in Uygur Chinese: a case-control study JOURNAL BMC Psychiatry 19 (1), 293 (2019) PUBMED 31533672 REMARK GeneRIF: SLC39A8 encodes a protein named ZIP8, which is responsible for the transport of the essential metals including ferrum (Fe2+), manganese (Mn2+) and zinc (Zn2+), and the nonessential neurotoxic metal cadmium (Cd2+). Publication Status: Online-Only REFERENCE 4 (residues 1 to 444) AUTHORS Melia JMP, Lin R, Xavier RJ, Thompson RB, Fu D, Wan F, Sears CL and Donowitz M. TITLE Induction of the metal transporter ZIP8 by interferon gamma in intestinal epithelial cells: Potential role of metal dyshomeostasis in Crohn's disease JOURNAL Biochem. Biophys. Res. Commun. 515 (2), 325-331 (2019) PUBMED 31151823 REMARK GeneRIF: results suggest a potential role for ZIP8 in intestinal inflammation, induced by IFNgamma in the intestinal epithelial compartment, and that perturbations in negative regulation of NF-kappaB by ZIP8 A391T may contribute to Crohn's disease pathogenesis REFERENCE 5 (residues 1 to 444) AUTHORS Scheiber IF, Alarcon NO and Zhao N. TITLE Manganese Uptake by A549 Cells is Mediated by Both ZIP8 and ZIP14 JOURNAL Nutrients 11 (7), E1473 (2019) PUBMED 31261654 REMARK GeneRIF: Both ZIP8 and ZIP14 have roles in manganese metabolism of alveolar epithelial cells. Publication Status: Online-Only REFERENCE 6 (residues 1 to 444) AUTHORS Girijashanker K, He L, Soleimani M, Reed JM, Li H, Liu Z, Wang B, Dalton TP and Nebert DW. TITLE Slc39a14 gene encodes ZIP14, a metal/bicarbonate symporter: similarities to the ZIP8 transporter JOURNAL Mol. Pharmacol. 73 (5), 1413-1423 (2008) PUBMED 18270315 REMARK Erratum:[Mol Pharmacol. 2008 Sep;74(3):924] REFERENCE 7 (residues 1 to 444) 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 444) 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 444) AUTHORS Taylor KM and Nicholson RI. TITLE The LZT proteins; the LIV-1 subfamily of zinc transporters JOURNAL Biochim. Biophys. Acta 1611 (1-2), 16-30 (2003) PUBMED 12659941 REMARK Review article REFERENCE 10 (residues 1 to 444) AUTHORS Begum NA, Kobayashi M, Moriwaki Y, Matsumoto M, Toyoshima K and Seya T. TITLE Mycobacterium bovis BCG cell wall and lipopolysaccharide induce a novel gene, BIGM103, encoding a 7-TM protein: identification of a new protein family having Zn-transporter and Zn-metalloprotease signatures JOURNAL Genomics 80 (6), 630-645 (2002) PUBMED 12504855 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BF000600.1, AC098487.1, AK304274.1, AP002023.1 and CA438467.1. Summary: This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]. Transcript Variant: This variant (3) differs in the 5' UTR and contains additional coding exons in the 3' CDS, compared to variant 1. The resulting protein (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 :: AK304274.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..444 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q24" Protein 1..444 /product="metal cation symporter ZIP8 isoform b precursor" /note="ZIP-8; solute carrier family 39 (metal ion transporter), member 8; BCG induced integral membrane protein BIGM103; Zrt- and Irt-like protein 8; zinc transporter ZIP8; LIV-1 subfamily of ZIP zinc transporter 6; BCG-induced integral membrane protein in monocyte clone 103 protein; metal cation symporter ZIP8" /calculated_mol_wt=46158 sig_peptide 1..22 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1949 Site 40 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9C0K1.1)" Site 88 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9C0K1.1)" Region 126..422 /region_name="Zip" /note="ZIP Zinc transporter; pfam02535" /db_xref="CDD:280666" Site 133..153 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9C0K1.1)" Site 161..181 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9C0K1.1)" Site 192..212 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9C0K1.1)" Region 343..348 /region_name="XEXPHE-motif. /evidence=ECO:0000305|PubMed:12504855" /note="propagated from UniProtKB/Swiss-Prot (Q9C0K1.1)" Site 366..386 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9C0K1.1)" Site 389..409 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9C0K1.1)" CDS 1..444 /gene="SLC39A8" /gene_synonym="BIGM103; CDG2N; LZT-Hs6; PP3105; ZIP8" /coded_by="NM_001135147.1:365..1699" /note="isoform b precursor is encoded by transcript variant 3" /db_xref="CCDS:CCDS47117.1" /db_xref="GeneID:64116" /db_xref="HGNC:HGNC:20862" /db_xref="MIM:608732" ORIGIN 1 mapgravagl lllaaaglgg vaegpglafs edvlsvfgan lslsaaqlqh lleqmgaasr 61 vgvpepgqlh fnqcltaeei fslhgfsnat qitsskfsvi cpavlqqlnf hpcedrpkhk 121 trpshsevwg ygflsvtiin lasllglilt plikksyfpk iltffvglai gtlfsnaifq 181 lipeafgfdp kvdsyvekav avfggfyllf ffermlkmll ktygqnghth fgndnfgpqe 241 kthqpkalpa ingvtcyanp avteanghih fdnvsvvslq dgkkepssct clkgpklsei 301 gtiawmitlc dalhnfidgl aigasctlsl lqglstsiai lceefphelg dfvillnagm 361 strqallfnf lsacscyvgl afgilvgnnf apniifalag gmflyislad mfpemndmlr 421 ekiikwatdd iksqlhllwi ytar // LOCUS NP_001177983 379 aa linear PRI 01-SEP-2020 DEFINITION anomalous homeobox protein isoform 2 [Homo sapiens]. ACCESSION NP_001177983 VERSION NP_001177983.1 DBSOURCE REFSEQ: accession NM_001191054.1 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 DB032853.1, AK057223.1 and AC226150.5. ##Evidence-Data-START## Transcript exon combination :: AK057223.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..379 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="12" /map="12q24.33" Protein 1..379 /product="anomalous homeobox protein isoform 2" /note="anomalous homeobox protein" /calculated_mol_wt=41564 Region <79..130 /region_name="SIX1_SD" /note="Transcriptional regulator, SIX1, N-terminal SD domain; pfam16878" /db_xref="CDD:374862" Region 139..193 /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(139..141,143,161,167,180,182..183,186..187,189..191, 193) /site_type="DNA binding" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:238039" Site order(139,142,183,186..187,190) /site_type="other" /note="specific DNA base contacts [nucleotide binding]" /db_xref="CDD:238039" CDS 1..379 /gene="ANHX" /coded_by="NM_001191054.1:53..1192" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS53855.1" /db_xref="GeneID:647589" /db_xref="HGNC:HGNC:40024" ORIGIN 1 mqsfltllke hedtcappae lvtlagrlcr dfqddlaqlq plvtaildsq lrlhlldnad 61 valacarvld qqeqqqaacr llegcqvpgg sqelvqlwnd ihyrlvmrrl gvaaltpvqk 121 frcrkrnppp pslcpeglks rnfprevrek lhnfavgvnt npskaerenl aletsltpeq 181 vynwfanyrr rqralpqhmk paqqataedp garergpdll qpsgnprvds gfvdrpqwse 241 ereekgppqs pqttqgpwep lalapdfpad etvskpldvs ghpqsvqlee glgtssgrte 301 lrvgsflvtq pplqapefil tqsppelapa psafpgpvsa melsqalpss qvqcsdsqas 361 gdafwgarml lefsgsslg // LOCUS NP_937831 395 aa linear PRI 01-SEP-2020 DEFINITION astrotactin-2 isoform d [Homo sapiens]. ACCESSION NP_937831 VERSION NP_937831.1 DBSOURCE REFSEQ: accession NM_198188.2 KEYWORDS RefSeq. SOURCE Homo 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 Behesti H, Fore TR, Wu P, Horn Z, Leppert M, Hull C and Hatten ME. TITLE ASTN2 modulates synaptic strength by trafficking and degradation of surface proteins JOURNAL Proc. Natl. Acad. Sci. U.S.A. 115 (41), E9717-E9726 (2018) PUBMED 30242134 REMARK GeneRIF: ASTN2 localizes primarily to endocytic and autophagocytic vesicles in the cell soma and in subsets of dendritic spines REFERENCE 2 (residues 1 to 395) AUTHORS An XK, Fang J, Yu ZZ, Lin Q, Lu CX, Qu HL and Ma QL. TITLE Multilocus analysis reveals three candidate genes for Chinese migraine susceptibility JOURNAL Clin. Genet. 92 (2), 143-149 (2017) PUBMED 28058730 REMARK GeneRIF: Our study suggests that the MEF2D, PRDM16 and ASTN2 genes from GWAS are associated with migraine susceptibility, especially migraine without aura , among Chinese patients. It appears that there is no association with serotonin receptor related genes. REFERENCE 3 (residues 1 to 395) AUTHORS Freitag CM, Lempp T, Nguyen TT, Jacob CP, Weissflog L, Romanos M, Renner TJ, Walitza S, Warnke A, Rujescu D, Lesch KP and Reif A. TITLE The role of ASTN2 variants in childhood and adult ADHD, comorbid disorders and associated personality traits JOURNAL J Neural Transm (Vienna) 123 (8), 849-858 (2016) PUBMED 27138430 REMARK GeneRIF: The findings of this study do not support a major role of ASTN2 variants in ADHD or its comorbid disorders respective aADHD associated personality traits. REFERENCE 4 (residues 1 to 395) AUTHORS Ni T, Harlos K and Gilbert R. TITLE Structure of astrotactin-2: a conserved vertebrate-specific and perforin-like membrane protein involved in neuronal development JOURNAL Open Biol 6 (5) (2016) PUBMED 27249642 REMARK GeneRIF: Results present the structure of ASTN-2 consisting of a combination of polypeptide folds: a perforin-like domain, a minimal epidermal growth factor-like module, a unique form of fibronectin type III domain and an annexin-like domain. Structural and biophysical data show that ASTN-2 binds inositol triphosphates, suggesting a mechanism for membrane recognition or secondary messenger regulation of its activity. REFERENCE 5 (residues 1 to 395) AUTHORS Rivers C, Idris J, Scott H, Rogers M, Lee YB, Gaunt J, Phylactou L, Curk T, Campbell C, Ule J, Norman M and Uney JB. TITLE iCLIP identifies novel roles for SAFB1 in regulating RNA processing and neuronal function JOURNAL BMC Biol. 13, 111 (2015) PUBMED 26694817 REMARK GeneRIF: The expression of coding and non-coding genes with SAFB1 cross-link sites was altered by SAFB1 knockdown. The isoform-specific expression of neural cell adhesion molecule (NCAM1) and ASTN2 was influenced by SAFB1. Publication Status: Online-Only REFERENCE 6 (residues 1 to 395) AUTHORS Siedlinski M, Cho MH, Bakke P, Gulsvik A, Lomas DA, Anderson W, Kong X, Rennard SI, Beaty TH, Hokanson JE, Crapo JD and Silverman EK. CONSRTM COPDGene Investigators; ECLIPSE Investigators TITLE Genome-wide association study of smoking behaviours in patients with COPD JOURNAL Thorax 66 (10), 894-902 (2011) PUBMED 21685187 REFERENCE 7 (residues 1 to 395) AUTHORS Adkins DE, Aberg K, McClay JL, Bukszar J, Zhao Z, Jia P, Stroup TS, Perkins D, McEvoy JP, Lieberman JA, Sullivan PF and van den Oord EJ. TITLE Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs JOURNAL Mol. Psychiatry 16 (3), 321-332 (2011) PUBMED 20195266 REMARK GeneRIF: Clinical trial and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 8 (residues 1 to 395) 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 REMARK GeneRIF: Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 9 (residues 1 to 395) AUTHORS Lesch KP, Timmesfeld N, Renner TJ, Halperin R, Roser C, Nguyen TT, Craig DW, Romanos J, Heine M, Meyer J, Freitag C, Warnke A, Romanos M, Schafer H, Walitza S, Reif A, Stephan DA and Jacob C. TITLE Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies JOURNAL J Neural Transm (Vienna) 115 (11), 1573-1585 (2008) PUBMED 18839057 REMARK GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) REFERENCE 10 (residues 1 to 395) 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) COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA015423.1, AK024064.1, BC093835.1 and AI341147.1. Summary: This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]. Transcript Variant: This variant (4) 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 lacks a segment in the 3' coding region compared to variant 1. The encoded 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 :: AK024064.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..395 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="9" /map="9q33.1" Protein 1..395 /product="astrotactin-2 isoform d" /calculated_mol_wt=44430 Region <1..87 /region_name="MACPF" /note="MAC/Perforin domain; cl02616" /db_xref="CDD:295395" Region 131..240 /region_name="FN3" /note="Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all...; cd00063" /db_xref="CDD:238020" Site order(229..230,232..233) /site_type="other" /note="Cytokine receptor motif" /db_xref="CDD:238020" CDS 1..395 /gene="ASTN2" /gene_synonym="bA67K19.1" /coded_by="NM_198188.2:237..1424" /note="isoform d is encoded by transcript variant 4" /db_xref="CCDS:CCDS6814.1" /db_xref="GeneID:23245" /db_xref="HGNC:HGNC:17021" /db_xref="MIM:612856" ORIGIN 1 mpfitylsgl ltaqmlsddq lisgveirce ekgrcpstch lcrrpgkeql sptpvllein 61 rvvplytliq dngtkeafks almssywcsg kgdviddwcr cdlsafdang lpncspllqp 121 vlrlsptvep sstvvslewv dvqpaigtkv sdyilqhkkv deytdtdlyt geflsfaddl 181 lsglgtscva agrshgevpe vsiysvifkc lepdglykft lyavdtrgrh selstvtlrt 241 acplvddnka eeiadkiynl yngytsgkeq qmayntlmev sasmlfrvqh hynshyekfg 301 dfvwrsedel gprkahlilr rlervsshcs sllrsayiqs rvetvpylfc rseevrpagm 361 vwysilkdtk itceekmvsm arntyyltls kvspf // LOCUS NP_690054 703 aa linear PRI 01-SEP-2020 DEFINITION Hermansky-Pudlak syndrome 4 protein isoform b [Homo sapiens]. ACCESSION NP_690054 VERSION NP_690054.1 DBSOURCE REFSEQ: accession NM_152841.2 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (residues 1 to 703) AUTHORS Kuratomi G, Saito A, Ozeki Y, Watanabe T, Fujii K, Shimoda K, Inukai T, Mori H, Ohmori K and Akiyama K. TITLE Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects JOURNAL BMC Psychiatry 13, 276 (2013) PUBMED 24168225 REMARK GeneRIF: These findings suggested the involvement of HPS4 in the working memory of healthy subjects and in the executive function deficits in schizophrenia. Publication Status: Online-Only REFERENCE 3 (residues 1 to 703) AUTHORS Saito A, Kuratomi G, Ito C, Matsuoka H, Suzuki T, Ozeki Y, Watanabe T, Fujii K, Shimoda K, Fukushima Y, Inukai T, Ohmori K and Akiyama K. TITLE An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients JOURNAL Psychiatr. Genet. 23 (4), 163-173 (2013) PUBMED 23563589 REMARK GeneRIF: These results suggest that the HPS4 gene confers a susceptibility to schizophrenia. REFERENCE 4 (residues 1 to 703) AUTHORS Gerondopoulos A, Langemeyer L, Liang JR, Linford A and Barr FA. TITLE BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor JOURNAL Curr. Biol. 22 (22), 2135-2139 (2012) PUBMED 23084991 REMARK GeneRIF: BLOC-3 is a Rab32 and Rab38 guanine nucleotide exchange factor, with a specific function in the biogenesis of lysosome-related organelles. Silencing of the BLOC-3 subunits Hps1 and Hps4 results in the mislocalization of Rab32 and Rab38. REFERENCE 5 (residues 1 to 703) AUTHORS Martina JA, Moriyama K and Bonifacino JS. TITLE BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4 JOURNAL J. Biol. Chem. 278 (31), 29376-29384 (2003) PUBMED 12756248 REMARK GeneRIF: observations demonstrate that the Hermansky-Pudlak syndrome 1(HPS1) and HPS4 proteins are components of a cytosolic complex that is involved in the biogenesis of lysosomal-related organelles REFERENCE 6 (residues 1 to 703) AUTHORS Nazarian R, Falcon-Perez JM and Dell'Angelica EC. TITLE Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4 JOURNAL Proc. Natl. Acad. Sci. U.S.A. 100 (15), 8770-8775 (2003) PUBMED 12847290 REMARK GeneRIF: HPS4 but not HPS3 associates with HPS1 in a complex, which we term biogenesis of lysosome-related organelles complex 3 (BLOC-3) REFERENCE 7 (residues 1 to 703) AUTHORS Anderson PD, Huizing M, Claassen DA, White J and Gahl WA. TITLE Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics JOURNAL Hum. Genet. 113 (1), 10-17 (2003) PUBMED 12664304 REMARK GeneRIF: Hermansky-Pudlak syndrome type 4 (HPS-4) patients exhibited iris transillumination, variable hair and skin pigmentation, absent platelet dense bodies, and occasional pulmonary fibrosis and granulomatous colitis. REFERENCE 8 (residues 1 to 703) AUTHORS Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT and Spritz RA. TITLE The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles JOURNAL J. Biol. Chem. 278 (22), 20332-20337 (2003) PUBMED 12663659 REMARK GeneRIF: identification as a component of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles REFERENCE 9 (residues 1 to 703) AUTHORS Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT and Spritz RA. TITLE Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene JOURNAL Nat. Genet. 30 (3), 321-324 (2002) PUBMED 11836498 REMARK GeneRIF: identification of mutations which establish HPS4 as important in Herman-Pudlak syndrome, and identification of mouse homolog light-ear gene REFERENCE 10 (residues 1 to 703) AUTHORS Huizing,M., Malicdan,M.C.V., Gochuico,B.R. and Gahl,W.A. TITLE Hermansky-Pudlak Syndrome JOURNAL (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K 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 Z99714.2, AL365512.1 and BQ185676.1. This sequence is a reference standard in the RefSeqGene project. Summary: This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. 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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.52665.1, SRR1803612.189668.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..703 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="22" /map="22q12.1" Protein 1..703 /product="Hermansky-Pudlak syndrome 4 protein isoform b" /note="light-ear protein homolog" /calculated_mol_wt=76292 Region <409..>526 /region_name="dnaA" /note="chromosomal replication initiation protein; Provisional; PRK14086" /db_xref="CDD:237605" CDS 1..703 /gene="HPS4" /gene_synonym="BLOC3S2; LE" /coded_by="NM_152841.2:301..2412" /note="isoform b is encoded by transcript variant 2" /db_xref="CCDS:CCDS46677.1" /db_xref="GeneID:89781" /db_xref="HGNC:HGNC:15844" /db_xref="MIM:606682" ORIGIN 1 maplcslarw nyfflydgsk vkeegdptra gicyfypsqt lldqqellcg qiagvvrcvs 61 disdspptlv rlrklkfaik vdgdylwvlg cavelpdvsc krfldqlvgf fnfyngpvsl 121 ayencsqeel stewdtfieq ilkntsdlhk ifnslwnldq tkvepllllk aarilqtcqr 181 sphilagcil ykglivstql ppsltakvll hrtapqeqrl ptgedapqeh gaalppnvqi 241 ipvfvtkeea islhefpveq mtrslaspag lqdgsaqhhp kggstsalke natghvesma 301 wttpdptspd eacpdgrken gclsghdles irpaglhnsa rgevlglsss lgkelvflqe 361 eldlseihip eaqevemasg hfaflhvpvp dgrapyckas lsassslept ppedtaissl 421 rppsapemlt qhgaqeqled hpghssqapi pradplprrt rrplllprld pgqrgnklpt 481 geqgldedvd gvceshaapg lecssgsanc qgagpsadgi ssrltpaesc mglvrmnlyt 541 hcvkglvlsl laeepllgds aaieevyhss laslnglevh lketlprdea astsstynft 601 hydriqsllm anlpqvatpq drrflqavsl mhsefaqlpa lyemtvrnas tavyaccnpi 661 qetyfqqlap aarssgfpnp qdgafslsgk akqkllkhgv nll // LOCUS NP_055474 1408 aa linear PRI 01-SEP-2020 DEFINITION inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1 isoform 2 [Homo sapiens]. ACCESSION NP_055474 XP_001723327 VERSION NP_055474.3 DBSOURCE REFSEQ: accession NM_014659.5 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 1408) 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 2 (residues 1 to 1408) AUTHORS Shears SB, Baughman BM, Gu C, Nair VS and Wang H. TITLE The significance of the 1-kinase/1-phosphatase activities of the PPIP5K family JOURNAL Adv Biol Regul 63, 98-106 (2017) PUBMED 27776974 REMARK GeneRIF: PPIP5K is a rare example of a single protein that catalyzes a kinase/phosphatase futile cycle. (Review) Review article REFERENCE 3 (residues 1 to 1408) AUTHORS Machkalyan G, Trieu P, Petrin D, Hebert TE and Miller GJ. TITLE PPIP5K1 interacts with the exocyst complex through a C-terminal intrinsically disordered domain and regulates cell motility JOURNAL Cell. Signal. 28 (5), 401-411 (2016) PUBMED 26854614 REMARK GeneRIF: results suggest that PPIP5K1 might play an important role in regulating function of exocyst complex in establishing cellular polarity and directional migration of cells REFERENCE 4 (residues 1 to 1408) AUTHORS He M, Wu C, Xu J, Guo H, Yang H, Zhang X, Sun J, Yu D, Zhou L, Peng T, He Y, Gao Y, Yuan J, Deng Q, Dai X, Tan A, Feng Y, Zhang H, Min X, Yang X, Zhu J, Zhai K, Chang J, Qin X, Tan W, Hu Y, Lang M, Tao S, Li Y, Li Y, Feng J, Li D, Kim ST, Zhang S, Zhang H, Zheng SL, Gui L, Wang Y, Wei S, Wang F, Fang W, Liang Y, Zhai Y, Chen W, Miao X, Zhou G, Hu FB, Lin D, Mo Z and Wu T. TITLE A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and alpha fetoprotein and their associations with cancer risk JOURNAL Gut 63 (1), 143-151 (2014) PUBMED 23300138 REFERENCE 5 (residues 1 to 1408) 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 6 (residues 1 to 1408) 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 7 (residues 1 to 1408) 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 REFERENCE 8 (residues 1 to 1408) AUTHORS Washietl S, Pedersen JS, Korbel JO, Stocsits C, Gruber AR, Hackermuller J, Hertel J, Lindemeyer M, Reiche K, Tanzer A, Ucla C, Wyss C, Antonarakis SE, Denoeud F, Lagarde J, Drenkow J, Kapranov P, Gingeras TR, Guigo R, Snyder M, Gerstein MB, Reymond A, Hofacker IL and Stadler PF. TITLE Structured RNAs in the ENCODE selected regions of the human genome JOURNAL Genome Res. 17 (6), 852-864 (2007) PUBMED 17568003 REFERENCE 9 (residues 1 to 1408) AUTHORS Mulugu S, Bai W, Fridy PC, Bastidas RJ, Otto JC, Dollins DE, Haystead TA, Ribeiro AA and York JD. TITLE A conserved family of enzymes that phosphorylate inositol hexakisphosphate JOURNAL Science 316 (5821), 106-109 (2007) PUBMED 17412958 REFERENCE 10 (residues 1 to 1408) 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 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC011330.8, AF502588.1, BC057395.2 and AI656736.1. On or before Mar 29, 2008 this sequence version replaced XP_001723327.1, NP_055474.2. Summary: This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.76486.1, SRR1803613.13068.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..1408 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q15.3" Protein 1..1408 /product="inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1 isoform 2" /EC_number="2.7.4.21" /EC_number="2.7.4.24" /note="histidine acid phosphatase domain containing 2A; inositol pyrophosphate synthase 1; IP6 kinase; insP6 and PP-IP5 kinase 1; histidine acid phosphatase domain-containing protein 2A; VIP1 homolog; inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1" /calculated_mol_wt=156485 Region 64..65 /region_name="Substrate binding. /evidence=ECO:0000250|UniProtKB:O43314" /note="propagated from UniProtKB/Swiss-Prot (Q6PFW1.1)" Region 224..225 /region_name="Substrate binding. /evidence=ECO:0000250|UniProtKB:O43314" /note="propagated from UniProtKB/Swiss-Prot (Q6PFW1.1)" Region 337..340 /region_name="Substrate binding. /evidence=ECO:0000250|UniProtKB:O43314" /note="propagated from UniProtKB/Swiss-Prot (Q6PFW1.1)" Region 382..453 /region_name="Polyphosphoinositide-binding domain. /evidence=ECO:0000269|PubMed:21222653" /note="propagated from UniProtKB/Swiss-Prot (Q6PFW1.1)" Region 390..906 /region_name="His_Phos_2" /note="Histidine phosphatase superfamily (branch 2); pfam00328" /db_xref="CDD:306768" Site 940 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163, ECO:0000244|PubMed:24275569; propagated from UniProtKB/Swiss-Prot (Q6PFW1.1)" Site 983 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q6PFW1.1)" Site 1033 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q6PFW1.1)" Site 1120 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:A2ARP1; propagated from UniProtKB/Swiss-Prot (Q6PFW1.1)" Site 1127 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:18220336, ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q6PFW1.1)" CDS 1..1408 /gene="PPIP5K1" /gene_synonym="HISPPD2A; hsVIP1; IP6K; IPS1; VIP1" /coded_by="NM_014659.5:123..4349" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS32215.1" /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 kqsglgsqct 1021 glfsttvlgg sssapnlqdy arshgkklpp aslkhrdgfe gcsmvptiyp letlhnalsl 1081 rqvseflsrv cqrhtdaqaq asaalfdsmh ssqasdnpfs pprtlhsppl qlqqrsekpp 1141 wyssgpsstv ssagpssptt vdgnsqfgfs dqpslnshva eehqglgllq etpgsgaqel 1201 siegeqelfe pnqspqvppm etsqpyeevs qpcqevpdis qpcqdiseal sqpcqkvpdi 1261 sqqcqenhdn gnhtcqevph isqpcqkssq lcqkvseevc qlclenseev sqpcqgvsve 1321 vgklvhkfhv gvgslvqetl vevgspaeei peeviqpyqe fsvevgrlaq etsainllsq 1381 gipeidkpsq efpeeidlqa qevpeein // LOCUS NP_001124177 820 aa linear PRI 01-SEP-2020 DEFINITION disintegrin and metalloproteinase domain-containing protein 29 preproprotein [Homo sapiens]. ACCESSION NP_001124177 VERSION NP_001124177.1 DBSOURCE REFSEQ: accession NM_001130705.1 KEYWORDS RefSeq. SOURCE Homo 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 Zhao M, Jia W, Jiang WG, Wang P, DU G, Cheng S and Song M. TITLE ADAM29 Expression in Human Breast Cancer and its Effects on Breast Cancer Cells In Vitro JOURNAL Anticancer Res. 36 (3), 1251-1258 (2016) PUBMED 26977022 REMARK GeneRIF: Increased transcript expression of ADAM29 was observed in breast cancer tissues compared to normal ones. The expression of ADAM29 and its mutations in different domains significantly influenced proliferation, migration and invasion of breast cancer cells in vitro. REFERENCE 2 (residues 1 to 820) AUTHORS Lin SW, Tsai CN, Lee YS, Chu SF and Chen NH. TITLE Gene expression profiles in peripheral blood mononuclear cells of Asian obstructive sleep apnea patients JOURNAL Biomed J 37 (2), 60-70 (2014) PUBMED 24732660 REMARK GeneRIF: PCMC expression of ADAM29, FLRT2, and SLC18A3 could be assessed as part of a routine screen to help identify individuals at risk of severe Obstructive sleep apnea in Asian populations REFERENCE 3 (residues 1 to 820) AUTHORS Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q, Dicks E, Lee A, Turnbull C, Rahman N, Fletcher O, Peto J, Gibson L, Dos Santos Silva I, Nevanlinna H, Muranen TA, Aittomaki K, Blomqvist C, Czene K, Irwanto A, Liu J, Waisfisz Q, Meijers-Heijboer H, Adank M, van der Luijt RB, Hein R, Dahmen N, Beckman L, Meindl A, Schmutzler RK, Muller-Myhsok B, Lichtner P, Hopper JL, Southey MC, Makalic E, Schmidt DF, Uitterlinden AG, Hofman A, Hunter DJ, Chanock SJ, Vincent D, Bacot F, Tessier DC, Canisius S, Wessels LF, Haiman CA, Shah M, Luben R, Brown J, Luccarini C, Schoof N, Humphreys K, Li J, Nordestgaard BG, Nielsen SF, Flyger H, Couch FJ, Wang X, Vachon C, Stevens KN, Lambrechts D, Moisse M, Paridaens R, Christiaens MR, Rudolph A, Nickels S, Flesch-Janys D, Johnson N, Aitken Z, Aaltonen K, Heikkinen T, Broeks A, Veer LJ, van der Schoot CE, Guenel P, Truong T, Laurent-Puig P, Menegaux F, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Zamora MP, Perez JI, Pita G, Alonso MR, Cox A, Brock IW, Cross SS, Reed MW, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Henderson BE, Schumacher F, Le Marchand L, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Lindblom A, Margolin S, Hooning MJ, Hollestelle A, van den Ouweland AM, Jager A, Bui QM, Stone J, Dite GS, Apicella C, Tsimiklis H, Giles GG, Severi G, Baglietto L, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Muller H, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Jones M, Figueroa J, Lissowska J, Brinton L, Goldberg MS, Labreche F, Dumont M, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, Brauch H, Hamann U, Bruning T, Radice P, Peterlongo P, Manoukian S, Bonanni B, Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Jakubowska A, Lubinski J, Jaworska K, Durda K, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Bogdanova NV, Antonenkova NN, Dork T, Kristensen VN, Anton-Culver H, Slager S, Toland AE, Edge S, Fostira F, Kang D, Yoo KY, Noh DY, Matsuo K, Ito H, Iwata H, Sueta A, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Shu XO, Lu W, Gao YT, Cai H, Teo SH, Yip CH, Phuah SY, Cornes BK, Hartman M, Miao H, Lim WY, Sng JH, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Shen CY, Hsiung CN, Wu PE, Ding SL, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Blot WJ, Signorello LB, Cai Q, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Simard J, Garcia-Closas M, Pharoah PD, Chenevix-Trench G, Dunning AM, Benitez J and Easton DF. CONSRTM Breast and Ovarian Cancer Susceptibility Collaboration; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON); kConFab Investigators; Australian Ovarian Cancer Study Group; GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network TITLE Large-scale genotyping identifies 41 new loci associated with breast cancer risk JOURNAL Nat. Genet. 45 (4), 353-361 (2013) PUBMED 23535729 REFERENCE 4 (residues 1 to 820) AUTHORS Wei X, Moncada-Pazos A, Cal S, Soria-Valles C, Gartner J, Rudloff U, Lin JC, Rosenberg SA, Lopez-Otin C and Samuels Y. CONSRTM NISC Comparative Sequencing Program TITLE Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma JOURNAL Hum. Mutat. 32 (6), E2148-E2175 (2011) PUBMED 21618342 REMARK GeneRIF: mutated ADAM27 and ADAM7 genes could play a role in melanoma progression. REFERENCE 5 (residues 1 to 820) AUTHORS Maloum K, Settegrana C, Chapiro E, Cazin B, Lepretre S, Delmer A, Leporrier M, Dreyfus B, Tournilhac O, Mahe B, Nguyen-Khac F, Lesty C, Davi F and Merle-Beral H. TITLE IGHV gene mutational status and LPL/ADAM29 gene expression as clinical outcome predictors in CLL patients in remission following treatment with oral fludarabine plus cyclophosphamide JOURNAL Ann. Hematol. 88 (12), 1215-1221 (2009) PUBMED 19340428 REMARK GeneRIF: Results support the use of LPL and ADAM29 gene expression associated to IGHV mutational status for predicting the clinical outcome of patients treated by oral fludarabine + cyclophosphamide and could be considered for treatment strategies. REFERENCE 6 (residues 1 to 820) AUTHORS Oppezzo P, Vasconcelos Y, Settegrana C, Jeannel D, Vuillier F, Legarff-Tavernier M, Kimura EY, Bechet S, Dumas G, Brissard M, Merle-Beral H, Yamamoto M, Dighiero G and Davi F. CONSRTM French Cooperative Group on CLL TITLE The LPL/ADAM29 expression ratio is a novel prognosis indicator in chronic lymphocytic leukemia JOURNAL Blood 106 (2), 650-657 (2005) PUBMED 15802535 REMARK GeneRIF: quantification of LPL and ADAM29 gene expression is a strong prognostic indicator in CLL, providing better prognostic assessment than ZAP-70 in advanced stages of the disease REFERENCE 7 (residues 1 to 820) AUTHORS Xu R, Cai J, Xu T, Zhou W, Ying B, Deng K, Zhao S and Li C. TITLE Molecular cloning and mapping of a novel ADAM gene (ADAM29) to human chromosome 4 JOURNAL Genomics 62 (3), 537-539 (1999) PUBMED 10644455 REFERENCE 8 (residues 1 to 820) AUTHORS Cerretti DP, DuBose RF, Black RA and Nelson N. TITLE Isolation of two novel metalloproteinase-disintegrin (ADAM) cDNAs that show testis-specific gene expression JOURNAL Biochem. Biophys. Res. Commun. 263 (3), 810-815 (1999) PUBMED 10512762 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DB073142.1, DB039551.1, AK292410.1 and BC036070.1. Summary: This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 5, 6, and 7 encode the same protein. ##Evidence-Data-START## Transcript exon combination :: DB020346.1, DB028775.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..820 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q34.1" Protein 1..820 /product="disintegrin and metalloproteinase domain-containing protein 29 preproprotein" /note="a disintegrin and metalloproteinase domain 29; cancer/testis antigen 73; disintegrin and metalloproteinase domain-containing protein 29; metallaproteinase-disintegrin (ADAM29); testis secretory sperm-binding protein Li 207a; epididymis secretory sperm binding protein" /calculated_mol_wt=90812 sig_peptide 1..18 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1966 proprotein 19..820 /product="disintegrin and metalloproteinase domain-containing protein 29 proprotein" /calculated_mol_wt=90812 Region 32..150 /region_name="Pep_M12B_propep" /note="Reprolysin family propeptide; pfam01562" /db_xref="CDD:307618" mat_peptide 194..820 /product="Disintegrin and metalloproteinase domain-containing protein 29. /id=PRO_0000029135" /note="propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" /calculated_mol_wt=70710 Region 198..386 /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 217 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Site 320 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Site order(332..333,336,342) /site_type="active" /db_xref="CDD:239797" Site 368 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Region 406..478 /region_name="Disintegrin" /note="Disintegrin; pfam00200" /db_xref="CDD:306668" Site 428 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Site 469 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Region 483..618 /region_name="ACR" /note="ADAM Cysteine-Rich Domain; smart00608" /db_xref="CDD:214743" Site 538 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Site 545 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Site 558 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Site 564 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Site 675..695 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Region <725..>819 /region_name="PAT1" /note="Topoisomerase II-associated protein PAT1; cl25764" /db_xref="CDD:330585" Region 739..819 /region_name="9 X 9 AA approximate repeats" /note="propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" CDS 1..820 /gene="ADAM29" /gene_synonym="CT73; svph1" /coded_by="NM_001130705.1:484..2946" /db_xref="CCDS:CCDS3823.1" /db_xref="GeneID:11086" /db_xref="HGNC:HGNC:207" /db_xref="MIM:604778" ORIGIN 1 mkmllllhcl gvflscsghi qdehpqyhsp pdvvipvrit gttrgmtppg wlsyilpfgg 61 qkhiihikvk kllfskhlpv ftytdqgail edqpfvqnnc yyhgyvegdp eslvslstcf 121 ggfqgilqin dfayeikpla fsttfehlvy kmdseekqfs tmrsgfmqne itcrmefeei 181 dnstqkqssy vgwwihfriv eivvvidnyl yiryerndsk lledlyvivn ivdsildvig 241 vkvllfglei wtnknlivvd dvrksvhlyc kwksenitpr mqhdtshlft tlglrglsgi 301 gafrgmctph rscaivtfmn ktlgtfsiav ahhlghnlgm nhdedtcrcs qprcimhegn 361 ppitkfsncs ygdfweytve rtkclletvh tkdifnvkrc gngvveegee cdcgplkhca 421 kdpcclsnct ltdgstcafg lcckdckflp sgkvcrkevn ecdlpewcng tshkcpddfy 481 vedgipcker gycyekschd rneqcrrifg agantasetc ykelntlgdr vghcgiknat 541 yikcnisdvq cgriqcenvt eipnmsdhtt vhwarfndim cwstdyhlgm kgpdigevkd 601 gtecgidhic ihrhcvhiti lnsncspafc nkrgicnnkh hchcnylwdp pnclikgygg 661 svdsgpppkr kkkkkfcylc illlivlfil lcclyrlckk skpikkqqdv qtpsakeeek 721 iqrrphelpp qsqpwvmpsq sqppvtpsqs hpqvmpsqsq ppvtpsqsqp rvmpsqsqpp 781 vmpsqshpql tpsqsqppvt psqrqpqlmp sqsqppvtps // LOCUS NP_001269445 243 aa linear PRI 01-SEP-2020 DEFINITION bcl-2-like protein 12 isoform 4 [Homo sapiens]. ACCESSION NP_001269445 VERSION NP_001269445.1 DBSOURCE REFSEQ: accession NM_001282516.1 KEYWORDS RefSeq. SOURCE Homo 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 Nikcevic G, Drazilov SS, Djurasevic TK, Tosic N, Kontos CK, Scorilas A and Pavlovic S. TITLE Complex transcriptional regulation of the BCL2L12 gene: Novel, active promoter in K562 cells JOURNAL Gene 750, 144723 (2020) PUBMED 32387119 REMARK GeneRIF: The previously reported active promoter of BCL2L12 gene differs from the one we described in our study. If this novel BCL2L12 promoter is confirmed to be active in other malignancies, transcripts generated from this region could be considered as new cancer-specific biomarkers. The results of the study contribute to the better understanding of the transcriptional regulation of the BCL2L12 gene. REFERENCE 2 (residues 1 to 243) AUTHORS Thapa B, Kc R, Bahniuk M, Schmitke J, Hitt M, Lavasanifar A, Kutsch O, Seol DW and Uludag H. TITLE Breathing New Life into TRAIL for Breast Cancer Therapy: Co-Delivery of pTRAIL and Complementary siRNAs Using Lipopolymers JOURNAL Hum. Gene Ther. 30 (12), 1531-1546 (2019) PUBMED 31547718 REMARK GeneRIF: In this study, we explored co-delivery of a TRAIL expressing plasmid (pTRAIL) and complementary small interfering RNAs (siRNAs) (silencing Bcl2-like 12 [BCL2L12] and superoxide dismutase 1 [SOD1]) to improve the response of breast cancer cells against TRAIL therapy REFERENCE 3 (residues 1 to 243) AUTHORS Giotakis AI, Lazaris AC, Kataki A, Kontos CK and Giotakis EI. TITLE Positive BCL2L12 expression predicts favorable prognosis in patients with laryngeal squamous cell carcinoma JOURNAL Cancer Biomark 25 (2), 141-149 (2019) PUBMED 31104007 REMARK GeneRIF: BCL2L12 protein expression could be used as a favorable prognostic tissue biomarker in patients with primary advanced-stage LSCC. On the contrary, BCL2 and BAX did not correlate with prognosis in patients with primary LSCC. REFERENCE 4 (residues 1 to 243) AUTHORS Kladi-Skandali A, Sideris DC and Scorilas A. TITLE BCL2L12: a multiply spliced gene with independent prognostic significance in breast cancer JOURNAL Clin. Chem. Lab. Med. 57 (2), 276-287 (2018) PUBMED 30325729 REMARK GeneRIF: Increased BCL2L12 v.4 mRNA expression was associated with markers of unfavorable prognosis namely, advanced tumor, ER- (p=0.015)/PR-, Ki-67-positivity and high NPI (Nottingham prognostic index) score REFERENCE 5 (residues 1 to 243) AUTHORS Kontos CK and Scorilas A. TITLE Molecular cloning of novel alternatively spliced variants of BCL2L12, a new member of the BCL2 gene family, and their expression analysis in cancer cells JOURNAL Gene 505 (1), 153-166 (2012) PUBMED 22664385 REMARK GeneRIF: Molecular cloning of novel alternatively spliced variants of BCL2L12, a new member of the BCL2 gene family, and their expression analysis in cancer cells. REFERENCE 6 (residues 1 to 243) AUTHORS Stegh AH and DePinho RA. TITLE Beyond effector caspase inhibition: Bcl2L12 neutralizes p53 signaling in glioblastoma JOURNAL Cell Cycle 10 (1), 33-38 (2011) PUBMED 21200141 REMARK Review article REFERENCE 7 (residues 1 to 243) AUTHORS Mathioudaki K, Scorilas A, Papadokostopoulou A, Xynopoulos D, Arnogianaki N, Agnanti N and Talieri M. TITLE Expression analysis of BCL2L12, a new member of apoptosis-related genes, in colon cancer JOURNAL Biol. Chem. 385 (9), 779-783 (2004) PUBMED 15493871 REMARK GeneRIF: The BCL2L12-A transcript appears to be of importance for colon cancer since its expression is associated with disease progression. REFERENCE 8 (residues 1 to 243) AUTHORS Talieri M, Diamandis EP, Katsaros N, Gourgiotis D and Scorilas A. TITLE Expression of BCL2L12, a new member of apoptosis-related genes, in breast tumors JOURNAL Thromb. Haemost. 89 (6), 1081-1088 (2003) PUBMED 12783122 REMARK GeneRIF: RT-PCR in 70 breast cancer tissues demonstrated that BCL2L12 positive breast tumors are mainly of lower stage (I/II) or grade (I/II) and BCL2L12 expression is positively related to disease-free and overall survival REFERENCE 9 (residues 1 to 243) AUTHORS Hammond PW, Alpin J, Rise CE, Wright M and Kreider BL. TITLE In vitro selection and characterization of Bcl-X(L)-binding proteins from a mix of tissue-specific mRNA display libraries JOURNAL J. Biol. Chem. 276 (24), 20898-20906 (2001) PUBMED 11283018 REFERENCE 10 (residues 1 to 243) AUTHORS Scorilas A, Kyriakopoulou L, Yousef GM, Ashworth LK, Kwamie A and Diamandis EP. TITLE Molecular cloning, physical mapping, and expression analysis of a novel gene, BCL2L12, encoding a proline-rich protein with a highly conserved BH2 domain of the Bcl-2 family JOURNAL Genomics 72 (2), 217-221 (2001) PUBMED 11401436 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC011495.8, BC104004.1, FJ868798.1 and BC007724.2. Summary: This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 3' coding region, 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 :: SRR1163657.192610.1, SRR1163658.324724.1 [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="19" /map="19q13.33" Protein 1..243 /product="bcl-2-like protein 12 isoform 4" /note="BCL2-like 12 (proline rich); Bcl-2 related proline-rich protein; bcl-2-like protein 12" /calculated_mol_wt=26993 Site 113 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:18669648; propagated from UniProtKB/Swiss-Prot (Q9HB09.1)" Site 117 /site_type="phosphorylation" /note="Phosphothreonine. /evidence=ECO:0000244|PubMed:18669648; propagated from UniProtKB/Swiss-Prot (Q9HB09.1)" Site 121 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:18669648; propagated from UniProtKB/Swiss-Prot (Q9HB09.1)" Site 144 /site_type="methylation" /note="Omega-N-methylarginine. /evidence=ECO:0000244|PubMed:24129315; propagated from UniProtKB/Swiss-Prot (Q9HB09.1)" Site 195 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000244|PubMed:23186163; propagated from UniProtKB/Swiss-Prot (Q9HB09.1)" CDS 1..243 /gene="BCL2L12" /coded_by="NM_001282516.1:683..1414" /note="isoform 4 is encoded by transcript variant 4" /db_xref="GeneID:83596" /db_xref="HGNC:HGNC:13787" /db_xref="MIM:610837" ORIGIN 1 mgrpaglfpp lcpflgfrpe acwerhmqie rapsvppflr wagyrpgpvr rrgkvelikf 61 vrvqwrrpqv ewrrrrwgpg pgasmagsee lglredtlrv laaflrrgea agspvptppr 121 spaqeeptdf lsrlrrclpc slgrgaapse sprpcslpir pcyglepgpa tpdfyalvaq 181 rleqlvqeql ksppspelqg ppstekeail rrlvalleee aevinqkegi lavspvdlnl 241 pld // LOCUS NP_803565 295 aa linear PRI 01-SEP-2020 DEFINITION sulfotransferase 1A1 isoform a [Homo sapiens]. ACCESSION NP_803565 VERSION NP_803565.1 DBSOURCE REFSEQ: accession NM_177529.2 KEYWORDS RefSeq. SOURCE Homo 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 Dash R, Ali MC, Dash N, Azad MAK, Hosen SMZ, Hannan MA and Moon IS. TITLE Structural and Dynamic Characterizations Highlight the Deleterious Role of SULT1A1 R213H Polymorphism in Substrate Binding JOURNAL Int J Mol Sci 20 (24), E6256 (2019) PUBMED 31835852 REMARK GeneRIF: These findings highlight the key insights of structural consequences caused by R213H mutation, which would enrich the understanding regarding the role of SULT1A1 mutation in cancer development. Publication Status: Online-Only REFERENCE 2 (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 3 (residues 1 to 295) AUTHORS Sanchez-Spitman AB, Dezentje VO, Swen JJ, Moes DJAR, Gelderblom H and Guchelaar HJ. TITLE Genetic polymorphisms of 3'-untranslated region of SULT1A1 and their impact on tamoxifen metabolism and efficacy JOURNAL Breast Cancer Res. Treat. 172 (2), 401-411 (2018) PUBMED 30120701 REMARK GeneRIF: Patients were categorized in three groups depending on the decreased SULT1A1 activity due to rs6839 and rs1042157: low activity group (rs6839 (GG) and rs1042157 (TT)); high activity group (rs6839 (AA) and rs1042157 (CC)); and medium activity group (all the other combinations of rs6839 and rs1042157). Associations between SULT1A1 phenotypes and clinical outcome (RFS) were explored REFERENCE 4 (residues 1 to 295) 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 5 (residues 1 to 295) AUTHORS Vijzelaar R, Botton MR, Stolk L, Martis S, Desnick RJ and Scott SA. TITLE Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification JOURNAL Pharmacogenomics 19 (9), 761-770 (2018) PUBMED 29790428 REMARK GeneRIF: Different ethnic and racial populations have varying degrees of SULT1A1-mediated sulfation activity. REFERENCE 6 (residues 1 to 295) AUTHORS Jones AL, Hagen M, Coughtrie MW, Roberts RC and Glatt H. TITLE Human platelet phenolsulfotransferases: cDNA cloning, stable expression in V79 cells and identification of a novel allelic variant of the phenol-sulfating form JOURNAL Biochem. Biophys. Res. Commun. 208 (2), 855-862 (1995) PUBMED 7695643 REFERENCE 7 (residues 1 to 295) AUTHORS Hwang SR, Kohn AB and Hook VY. TITLE Molecular cloning of an isoform of phenol sulfotransferase from human brain hippocampus JOURNAL Biochem. Biophys. Res. Commun. 207 (2), 701-707 (1995) PUBMED 7864863 REFERENCE 8 (residues 1 to 295) 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 295) AUTHORS Falany CN, Zhuang W and Falany JL. TITLE Characterization of expressed human phenol-sulfating phenol sulfotransferase: effect of mutating cys70 on activity and thermostability JOURNAL Chem. Biol. Interact. 92 (1-3), 57-66 (1994) PUBMED 8033270 REFERENCE 10 (residues 1 to 295) 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 BG482944.1, BM927749.1, AJ007418.1, BT007324.1 and BM984308.1. 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. Multiple alternatively spliced variants that encode two isoforms have been identified 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, 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 :: SRR1803617.481766.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153946, SAMEA2158569 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..295 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p11.2" Protein 1..295 /product="sulfotransferase 1A1 isoform a" /EC_number="2.8.2.1" /note="sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1; P-PST 1; thermostable phenol sulfotransferase1; ts-PST; aryl sulfotransferase 1; phenol-sulfating phenol sulfotransferase 1; sulfotransferase 1A1" /calculated_mol_wt=34034 Region 38..287 /region_name="Sulfotransfer_1" /note="Sulfotransferase domain; pfam00685" /db_xref="CDD:307022" Region 106..108 /region_name="Substrate binding" /note="propagated from UniProtKB/Swiss-Prot (P50225.3)" Site 138 /site_type="phosphorylation" /note="Phosphoserine. /evidence=ECO:0000250|UniProtKB:P17988; propagated from UniProtKB/Swiss-Prot (P50225.3)" CDS 1..295 /gene="SULT1A1" /gene_synonym="HAST1/HAST2; P-PST; PST; ST1A1; ST1A3; STP; STP1; TSPST1" /coded_by="NM_177529.2:150..1037" /note="isoform a is encoded by transcript variant 2" /db_xref="CCDS:CCDS32420.1" /db_xref="GeneID:6817" /db_xref="HGNC:HGNC:11453" /db_xref="MIM:171150" ORIGIN 1 meliqdtsrp pleyvkgvpl ikyfaealgp lqsfqarpdd llistypksg ttwvsqildm 61 iyqggdlekc hrapifmrvp flefkapgip sgmetlkdtp aprllkthlp lallpqtlld 121 qkvkvvyvar nakdvavsyy hfyhmakvhp epgtwdsfle kfmvgevsyg swyqhvqeww 181 elsrthpvly lfyedmkenp kreiqkilef vgrslpeetv dfvvqhtsfk emkknpmtny 241 ttvpqefmdh sispfmrkgm agdwkttftv aqnerfdady aekmagcsls frsel // LOCUS NP_000707 252 aa linear PRI 01-SEP-2020 DEFINITION C4b-binding protein beta chain isoform 1 precursor [Homo sapiens]. ACCESSION NP_000707 VERSION NP_000707.1 DBSOURCE REFSEQ: accession NM_000716.3 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 Kupreishvili K, Meischl C, Vonk ABA, Stooker W, Eijsman L, Blom AM, Quax PHA, van Hinsbergh VWM, Niessen HWM and Krijnen PAJ. TITLE Arterial Blood Pressure Induces Transient C4b-Binding Protein in Human Saphenous Vein Grafts JOURNAL Ann Vasc Surg 41, 259-264 (2017) PUBMED 28163174 REMARK GeneRIF: Exposure to arterial blood pressure leads to a transient presence of C4bp in the saphenous vein wall. REFERENCE 2 (residues 1 to 252) AUTHORS Jiang TT, Shi LY, Wei LL, Li X, Yang S, Wang C, Liu CM, Chen ZL, Tu HH, Li ZJ and Li JC. TITLE Serum amyloid A, protein Z, and C4b-binding protein beta chain as new potential biomarkers for pulmonary tuberculosis JOURNAL PLoS ONE 12 (3), e0173304 (2017) PUBMED 28278182 REMARK GeneRIF: SAA, PROZ, and C4BPB may serve as new potential biomarkers for TB Publication Status: Online-Only REFERENCE 3 (residues 1 to 252) AUTHORS Dikhoff,M.J., ter Weeme,M., Vonk,A.B., Kupreishvili,K., Blom,A.M., Krijnen,P.A., Stooker,W. and Niessen,H.W. TITLE C4b-Binding Protein Deposition is Induced in Diseased Aortic Heart Valves, Coinciding with C3d JOURNAL J. Heart Valve Dis. 24 (4), 451-456 (2015) PUBMED 26897815 REMARK GeneRIF: C4BP is deposited in the diseased aortic valve, coincident with C3d expression. REFERENCE 4 (residues 1 to 252) AUTHORS Wang S, Lu H, Ni J, Zhang J, Tang W, Lu W, Cai J and Zhang C. TITLE An evaluation of association between common variants in C4BPB/C4BPA genes and schizophrenia JOURNAL Neurosci. Lett. 590, 189-192 (2015) PUBMED 25660618 REMARK GeneRIF: C4BPB/C4BPA may not confer susceptibility to schizophrenia among Han Chinese REFERENCE 5 (residues 1 to 252) AUTHORS Ermert D, Weckel A, Agarwal V, Frick IM, Bjorck L and Blom AM. TITLE Binding of complement inhibitor C4b-binding protein to a highly virulent Streptococcus pyogenes M1 strain is mediated by protein H and enhances adhesion to and invasion of endothelial cells JOURNAL J. Biol. Chem. 288 (45), 32172-32183 (2013) PUBMED 24064215 REMARK GeneRIF: Binding of complement inhibitor C4b-binding protein to a highly virulent Streptococcus pyogenes M1 strain is mediated by protein H and enhances adhesion to and invasion of endothelial cells. REFERENCE 6 (residues 1 to 252) AUTHORS Sanchez-Corral P, Criado Garcia O and Rodriguez de Cordoba S. TITLE Isoforms of human C4b-binding protein. I. Molecular basis for the C4BP isoform pattern and its variations in human plasma JOURNAL J. Immunol. 155 (8), 4030-4036 (1995) PUBMED 7561113 REFERENCE 7 (residues 1 to 252) AUTHORS Hillarp A, Pardo-Manuel F, Ruiz RR, Rodriguez de Cordoba S and Dahlback B. TITLE The human C4b-binding protein beta-chain gene JOURNAL J. Biol. Chem. 268 (20), 15017-15023 (1993) PUBMED 8325877 REFERENCE 8 (residues 1 to 252) AUTHORS Andersson A, Dahlback B, Hanson C, Hillarp A, Levan G, Szpirer J and Szpirer C. TITLE Genes for C4b-binding protein alpha- and beta-chains (C4BPA and C4BPB) are located on chromosome 1, band 1q32, in humans and on chromosome 13 in rats JOURNAL Somat. Cell Mol. Genet. 16 (5), 493-500 (1990) PUBMED 2237642 REFERENCE 9 (residues 1 to 252) AUTHORS Hillarp A and Dahlback B. TITLE Cloning of cDNA coding for the beta chain of human complement component C4b-binding protein: sequence homology with the alpha chain JOURNAL Proc. Natl. Acad. Sci. U.S.A. 87 (3), 1183-1187 (1990) PUBMED 2300577 REFERENCE 10 (residues 1 to 252) AUTHORS Hillarp A and Dahlback B. TITLE Novel subunit in C4b-binding protein required for protein S binding JOURNAL J. Biol. Chem. 263 (25), 12759-12764 (1988) PUBMED 2970465 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC005378.1, L11245.1 and BM987840.1. Summary: This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (1), also known as A19, 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 :: L11245.1, ERR279828.9937.1 [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="1" /map="1q32.1" Protein 1..252 /product="C4b-binding protein beta chain isoform 1 precursor" /note="C4b-binding protein beta chain" /calculated_mol_wt=26351 sig_peptide 1..17 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2025 mat_peptide 19..252 /product="C4b-binding protein beta chain isoform 1" /calculated_mol_wt=26264 Region 23..77 /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(33,50) /site_type="other" /note="receptor-ligand interactions" /db_xref="CDD:153056" Site 64 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:14760718, ECO:0000269|PubMed:16335952; propagated from UniProtKB/Swiss-Prot (P20851.1)" Site 71 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:14760718; propagated from UniProtKB/Swiss-Prot (P20851.1)" Region 81..135 /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(90,108) /site_type="other" /note="receptor-ligand interactions" /db_xref="CDD:153056" Site 98 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000269|PubMed:14760718, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218; propagated from UniProtKB/Swiss-Prot (P20851.1)" Site 117 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P20851.1)" Region 139..192 /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(149,166) /site_type="other" /note="receptor-ligand interactions" /db_xref="CDD:153056" Site 154 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (P20851.1)" CDS 1..252 /gene="C4BPB" /gene_synonym="C4BP" /coded_by="NM_000716.3:294..1052" /note="isoform 1 precursor is encoded by transcript variant 1" /db_xref="CCDS:CCDS1476.1" /db_xref="GeneID:725" /db_xref="HGNC:HGNC:1328" /db_xref="MIM:120831" ORIGIN 1 mffwcacclm vawrvsasda ehcpelppvd nsifvakeve gqilgtyvci kgyhlvgkkt 61 lfcnaskewd ntttecrlgh cpdpvlvnge fsssgpvnvs dkitfmcndh yilkgsnrsq 121 cledhtwapp fpicksrdcd ppgnpvhgyf egnnftlgst isyycedryy lvgvqeqqcv 181 dgewssalpv ckliqeapkp ecekallafq esknlceame nfmqqlkesg mtmeelkysl 241 elkkaelkak ll // LOCUS NP_113686 69 aa linear PRI 01-SEP-2020 DEFINITION guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2 [Homo sapiens]. ACCESSION NP_113686 VERSION NP_113686.1 DBSOURCE REFSEQ: accession NM_031498.2 KEYWORDS RefSeq. SOURCE Homo 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 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 2 (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), 385-391 (2013) PUBMED 23535732 REFERENCE 3 (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 4 (residues 1 to 69) AUTHORS Fowler CE, Aryal P, Suen KF and Slesinger PA. TITLE Evidence for association of GABA(B) receptors with Kir3 channels and regulators of G protein signalling (RGS4) proteins JOURNAL J. Physiol. (Lond.) 580 (Pt 1), 51-65 (2007) PUBMED 17185339 REFERENCE 5 (residues 1 to 69) AUTHORS DePuy SD, Yao J, Hu C, McIntire W, Bidaud I, Lory P, Rastinejad F, Gonzalez C, Garrison JC and Barrett PQ. TITLE The molecular basis for T-type Ca2+ channel inhibition by G protein beta2gamma2 subunits JOURNAL Proc. Natl. Acad. Sci. U.S.A. 103 (39), 14590-14595 (2006) PUBMED 16973746 REMARK GeneRIF: Recombinant Gbetagamma subunits were used to establish that the Gbeta(2)gamma(2) dimer can selectively reconstitute the inhibition of alpha(1H) channels in isolated membrane patches. REFERENCE 6 (residues 1 to 69) AUTHORS Cook LA, Schey KL, Cleator JH, Wilcox MD, Dingus J and Hildebrandt JD. TITLE Identification of a region in G protein gamma subunits conserved across species but hypervariable among subunit isoforms JOURNAL Protein Sci. 10 (12), 2548-2555 (2001) PUBMED 11714923 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 BC008663.1, AI857683.1 and BU742490.1. This sequence is a reference standard in the RefSeqGene project. 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 (1) represents the longest transcript. All four 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 :: BC008663.1, BE618270.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540 [ECO:0000348] ##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="guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2; gamma-T2 subunit; G-gamma-9; G protein cone gamma 8 subunit; guanine nucleotide binding protein gamma 9; g gamma-C; guanine nucleotide binding protein gamma transducing activity polypeptide 2" /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; GNG8; GNG9; GNGT8" /coded_by="NM_031498.2:308..517" /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_003987 100 aa linear PRI 01-SEP-2020 DEFINITION epididymal secretory glutathione peroxidase isoform 2 precursor [Homo sapiens]. ACCESSION NP_003987 VERSION NP_003987.2 DBSOURCE REFSEQ: accession NM_003996.3 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 100) 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 100) AUTHORS Moyer AM, Sun Z, Batzler AJ, Li L, Schaid DJ, Yang P and Weinshilboum RM. TITLE Glutathione pathway genetic polymorphisms and lung cancer survival after platinum-based chemotherapy JOURNAL Cancer Epidemiol. Biomarkers Prev. 19 (3), 811-821 (2010) PUBMED 20200426 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 3 (residues 1 to 100) 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 4 (residues 1 to 100) 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 5 (residues 1 to 100) AUTHORS Rejraji H, Vernet P and Drevet JR. TITLE GPX5 is present in the mouse caput and cauda epididymidis lumen at three different locations JOURNAL Mol. Reprod. Dev. 63 (1), 96-103 (2002) PUBMED 12211066 REFERENCE 6 (residues 1 to 100) AUTHORS Williams K, Frayne J and Hall L. TITLE Expression of extracellular glutathione peroxidase type 5 (GPX5) in the rat male reproductive tract JOURNAL Mol. Hum. Reprod. 4 (9), 841-848 (1998) PUBMED 9783843 REFERENCE 7 (residues 1 to 100) AUTHORS Hall L, Williams K, Perry AC, Frayne J and Jury JA. TITLE The majority of human glutathione peroxidase type 5 (GPX5) transcripts are incorrectly spliced: implications for the role of GPX5 in the male reproductive tract JOURNAL Biochem. J. 333 (Pt 1), 5-9 (1998) PUBMED 9639555 REFERENCE 8 (residues 1 to 100) AUTHORS Opalenik SR, Ding Q, Mallery SR and Thompson JA. TITLE Glutathione depletion associated with the HIV-1 TAT protein mediates the extracellular appearance of acidic fibroblast growth factor JOURNAL Arch. Biochem. Biophys. 351 (1), 17-26 (1998) PUBMED 9501919 REFERENCE 9 (residues 1 to 100) AUTHORS Vernet P, Faure J, Dufaure JP and Drevet JR. TITLE Tissue and developmental distribution, dependence upon testicular factors and attachment to spermatozoa of GPX5, a murine epididymis-specific glutathione peroxidase JOURNAL Mol. Reprod. Dev. 47 (1), 87-98 (1997) PUBMED 9110319 REFERENCE 10 (residues 1 to 100) AUTHORS Perry AC, Jones R, Niang LS, Jackson RM and Hall L. TITLE Genetic evidence for an androgen-regulated epididymal secretory glutathione peroxidase whose transcript does not contain a selenocysteine codon JOURNAL Biochem. J. 285 (Pt 3), 863-870 (1992) PUBMED 1386734 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BC128159.1, AJ005277.1, AL049543.17, BX103177.1 and DB336279.1. On Jan 19, 2000 this sequence version replaced NP_003987.1. Summary: This gene belongs to the glutathione peroxidase family. It is specifically expressed in the epididymis in the mammalian male reproductive tract, and is androgen-regulated. Unlike several other characterized glutathione peroxidases, this enzyme is not a selenoprotein, lacking the selenocysteine residue. Thus, it is selenium-independent, and has been proposed to play a role in protecting the membranes of spermatozoa from the damaging effects of lipid peroxidation and/or preventing premature acrosome reaction. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2016]. Transcript Variant: This variant (2) lacks an internal coding exon, which results in a frame-shift, compared to variant 1. The encoded isoform (2) is shorter, with a distinct C-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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC128159.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..100 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="6" /map="6p22.1" Protein 1..100 /product="epididymal secretory glutathione peroxidase isoform 2 precursor" /EC_number="1.11.1.9" /note="epididymal androgen-related protein; epididymal secretory glutathione peroxidase; epididymis-specific glutathione peroxidase-like protein; epididymis secretory sperm binding protein Li 75p" /calculated_mol_wt=8866 sig_peptide 1..23 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=2581 Region 40..>90 /region_name="Thioredoxin_like" /note="Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold; cl00388" /db_xref="CDD:320948" CDS 1..100 /gene="GPX5" /gene_synonym="EGLP; GPx-5; GSHPx-5; HEL-S-75p" /coded_by="NM_003996.3:3..305" /note="isoform 2 precursor is encoded by transcript variant 2" /db_xref="CCDS:CCDS4653.1" /db_xref="GeneID:2880" /db_xref="HGNC:HGNC:4557" /db_xref="MIM:603435" ORIGIN 1 mttqlrvvhl lplllacfvq tspkqekmkm dchkdekgti ydyeaialnk neyvsfkqyv 61 gkhilfvnva tycgltaqyp gmsvqgedly lvssflrkgm // LOCUS NP_001091878 117 aa linear PRI 01-SEP-2020 DEFINITION G antigen 12B/C/D/E [Homo sapiens]. ACCESSION NP_001091878 XP_001130891 VERSION NP_001091878.1 DBSOURCE REFSEQ: accession NM_001098408.1 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 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 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AC142497.3. On May 31, 2007 this sequence version replaced XP_001130891.1. 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## 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" /note="GAGE-12C; g antigen 12C/D/E" /calculated_mol_wt=12794 Region 1..111 /region_name="GAGE" /note="GAGE protein; pfam05831" /db_xref="CDD:310430" CDS 1..117 /gene="GAGE12C" /gene_synonym="GAGE-12B" /coded_by="NM_001098408.1:117..470" /db_xref="CCDS:CCDS43943.1" /db_xref="GeneID:729422" /db_xref="HGNC:HGNC:28402" /db_xref="MIM:300727" ORIGIN 1 mswrgrstyy wprprryvqp pemigpmrpe qfsdevepat peegepatqc qdpaaaqege 61 degasagqgp kpeahsqeqg hpqtgceced gpdgqemdpp npeevktpee gekqsqc // LOCUS NP_001010974 158 aa linear PRI 01-SEP-2020 DEFINITION breast carcinoma-amplified sequence 4 isoform c [Homo sapiens]. ACCESSION NP_001010974 VERSION NP_001010974.1 DBSOURCE REFSEQ: accession NM_001010974.2 KEYWORDS RefSeq. SOURCE Homo 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 Barlund M, Monni O, Weaver JD, Kauraniemi P, Sauter G, Heiskanen M, Kallioniemi OP and Kallioniemi A. TITLE Cloning of BCAS3 (17q23) and BCAS4 (20q13) genes that undergo amplification, overexpression, and fusion in breast cancer JOURNAL Genes Chromosomes Cancer 35 (4), 311-317 (2002) PUBMED 12378525 REMARK GeneRIF: BCAS3 (17q23) and BCAS4 (20q13) undergo amplification, overexpression, and fusion in breast cancer. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AF361220.1, BP212127.1 and BC056883.1. Transcript Variant: This variant (3) lacks two alternate exons in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.203792.1, SRR1803616.132458.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..158 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="20" /map="20q13.13" Protein 1..158 /product="breast carcinoma-amplified sequence 4 isoform c" /note="BCAS4/BCAS3 fusion; breast carcinoma amplified sequence 4/3 fusion protein" /calculated_mol_wt=17378 Site 60..61 /site_type="other" /note="Breakpoint for translocation to form BCAS4-BCAS3; propagated from UniProtKB/Swiss-Prot (Q8TDM0.1)" CDS 1..158 /gene="BCAS4" /gene_synonym="CNOL" /coded_by="NM_001010974.2:101..577" /note="isoform c is encoded by transcript variant 3" /db_xref="GeneID:55653" /db_xref="HGNC:HGNC:14367" /db_xref="MIM:607471" ORIGIN 1 mqrtgggapr pgrnhglpgs lrqpdpvall mllvdadqpe pmrsgarela lfltpepgae 61 akeveetieg mllrleefcs ladlirsdts qileenipvl kakltemrgi yakvdrleks 121 papvpvtyel ptlyrtedyf pvdageaqhh prtcprpl // LOCUS NP_996531 340 aa linear PRI 01-SEP-2020 DEFINITION citramalyl-CoA lyase, mitochondrial precursor [Homo sapiens]. ACCESSION NP_996531 VERSION NP_996531.1 DBSOURCE REFSEQ: accession NM_206808.3 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 340) AUTHORS Shen H, Campanello GC, Flicker D, Grabarek Z, Hu J, Luo C, Banerjee R and Mootha VK. TITLE The Human Knockout Gene CLYBL Connects Itaconate to Vitamin B12 JOURNAL Cell 171 (4), 771-782 (2017) PUBMED 29056341 REMARK GeneRIF: Study reports that CLYBL loss leads to a cell-autonomous defect in the mitochondrial B12 metabolism and that itaconyl-CoA is a cofactor-inactivating, substrate-analog inhibitor of the mitochondrial B12-dependent methylmalonyl-CoA mutase REFERENCE 2 (residues 1 to 340) AUTHORS Bossini-Castillo L, de Kovel C, Kallberg H, van 't Slot R, Italiaander A, Coenen M, Tak PP, Posthumus MD, Wijmenga C, Huizinga T, van der Helm-van Mil AH, Stoeken-Rijsbergen G, Rodriguez-Rodriguez L, Balsa A, Gonzalez-Alvaro I, Gonzalez-Gay MA, Gomez-Vaquero C, Franke B, Vermeulen S, van der Horst-Bruinsma Ie, Dijkmans BA, Wolbink GJ, Ophoff RA, Maehlen MT, van Riel P, Merriman M, Klareskog L, Lie BA, Merriman T, Crusius JB, Brouwer E, Martin J, de Vries N, Toes R, Padyukov L and Koeleman BP. CONSRTM LifeLines Cohort Study TITLE A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides JOURNAL Ann. Rheum. Dis. 74 (3), e15 (2015) PUBMED 24532677 REFERENCE 3 (residues 1 to 340) AUTHORS Strittmatter L, Li Y, Nakatsuka NJ, Calvo SE, Grabarek Z and Mootha VK. TITLE CLYBL is a polymorphic human enzyme with malate synthase and beta-methylmalate synthase activity JOURNAL Hum. Mol. Genet. 23 (9), 2313-2323 (2014) PUBMED 24334609 REFERENCE 4 (residues 1 to 340) AUTHORS Lin X, Lu D, Gao Y, Tao S, Yang X, Feng J, Tan A, Zhang H, Hu Y, Qin X, Kim ST, Peng T, Li L, Mo L, Zhang S, Trent JM, Mo Z, Zheng SL, Xu J and Sun J. TITLE Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men JOURNAL Hum. Mol. Genet. 21 (11), 2610-2617 (2012) PUBMED 22367966 REFERENCE 5 (residues 1 to 340) AUTHORS Morikawa J, Nishimura Y, Uchida A and Tanaka T. TITLE Molecular cloning of novel mouse and human putative citrate lyase beta-subunit JOURNAL Biochem. Biophys. Res. Commun. 289 (5), 1282-1286 (2001) PUBMED 11741334 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AL139035.27, AF428253.1, BP313488.1 and AL137139.9. Transcript Variant: This variant (1) represents the shorter transcript and encodes the protein. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [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..340 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="13" /map="13q32.3" Protein 1..340 /product="citramalyl-CoA lyase, mitochondrial precursor" /EC_number="2.3.3.9" /EC_number="4.1.3.25" /EC_number="3.1.2.30" /note="citrate lyase beta like; citrate lyase subunit beta-like protein, mitochondrial; malate synthase; beta-methylmalate synthase; citramalyl-CoA lyase, mitochondrial; (3S)-malyl-CoA thioesterase" /calculated_mol_wt=35015 transit_peptide 1..22 /note="Mitochondrion. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q8N0X4.2)" /calculated_mol_wt=2363 Region 47..337 /region_name="CitE" /note="Citrate lyase beta subunit [Carbohydrate transport and metabolism]; COG2301" /db_xref="CDD:225184" Site 57 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q8R4N0; propagated from UniProtKB/Swiss-Prot (Q8N0X4.2)" Site 61 /site_type="acetylation" /note="N6-acetyllysine. /evidence=ECO:0000250|UniProtKB:Q8R4N0; propagated from UniProtKB/Swiss-Prot (Q8N0X4.2)" Site 82 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:Q8R4N0; propagated from UniProtKB/Swiss-Prot (Q8N0X4.2)" Site 92 /site_type="acetylation" /note="N6-acetyllysine, alternate. /evidence=ECO:0000250|UniProtKB:Q8R4N0; propagated from UniProtKB/Swiss-Prot (Q8N0X4.2)" Region 272..273 /region_name="Substrate binding. /evidence=ECO:0000244|PDB:5VXC, ECO:0000244|PDB:5VXO, ECO:0000269|PubMed:29056341" /note="propagated from UniProtKB/Swiss-Prot (Q8N0X4.2)" CDS 1..340 /gene="CLYBL" /gene_synonym="CLB" /coded_by="NM_206808.3:33..1055" /db_xref="CCDS:CCDS32002.1" /db_xref="GeneID:171425" /db_xref="HGNC:HGNC:18355" /db_xref="MIM:609686" ORIGIN 1 malrllrraa rgaaaaallr lkaslaadip rlgysssshh kyiprravly vpgndekkik 61 kipslnvdca vldcedgvaa nkknearlri vktledidlg ptekcvrvns vssglaeedl 121 etllqsrvlp sslmlpkves peeiqwfadk fsfhlkgrkl eqpmnlipfv etamgllnfk 181 avceetlkvg pqvglfldav vfggedfras igatssketl dilyarqkiv viakafglqa 241 idlvyidfrd gagllrqsre gaamgftgkq vihpnqiavv qeqfspspek ikwaeeliaa 301 fkehqqlgkg aftfqgsmid mpllkqaqnt vtlatsikek // LOCUS NP_938020 682 aa linear PRI 01-SEP-2020 DEFINITION BCLAF1 and THRAP3 family member 3 isoform 1 [Homo sapiens]. ACCESSION NP_938020 XP_175146 VERSION NP_938020.2 DBSOURCE REFSEQ: accession NM_198279.3 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 682) 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 REFERENCE 2 (residues 1 to 682) 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 AL772197.12, AL833278.1 and BC126172.1. This sequence is a reference standard in the RefSeqGene project. On Oct 4, 2006 this sequence version replaced NP_938020.1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. There is no full-length support for this transcript. The genomic coordinates used for the transcript record were based on transcript alignments and support from orthologs in mouse and rat. ##Evidence-Data-START## RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..682 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="X" /map="Xp22.12" Protein 1..682 /product="BCLAF1 and THRAP3 family member 3 isoform 1" /note="uncharacterized protein CXorf23" /calculated_mol_wt=80265 Region 12..596 /region_name="THRAP3_BCLAF1" /note="THRAP3/BCLAF1 family; pfam15440" /db_xref="CDD:292080" CDS 1..682 /gene="BCLAF3" /gene_synonym="CXorf23" /coded_by="NM_198279.3:1..2049" /note="isoform 1 is encoded by transcript variant 1" /db_xref="CCDS:CCDS14194.2" /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_473373 322 aa linear PRI 01-SEP-2020 DEFINITION mas-related G-protein coupled receptor member X4 [Homo sapiens]. ACCESSION NP_473373 VERSION NP_473373.2 DBSOURCE REFSEQ: accession NM_054032.3 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 322) AUTHORS Yu H, Zhao T, Liu S, Wu Q, Johnson O, Wu Z, Zhuang Z, Shi Y, Peng L, He R, Yang Y, Sun J, Wang X, Xu H, Zeng Z, Zou P, Lei X, Luo W and Li Y. TITLE MRGPRX4 is a bile acid receptor for human cholestatic itch JOURNAL Elife 8, e48431 (2019) PUBMED 31500698 REMARK GeneRIF: Taken together, these data strongly suggest that MRGPRX4 is a novel bile acid receptor that likely underlies cholestatic itch in human, providing a promising new drug target for anti-itch therapies. Publication Status: Online-Only REFERENCE 2 (residues 1 to 322) AUTHORS Meixiong J, Vasavda C, Snyder SH and Dong X. TITLE MRGPRX4 is a G protein-coupled receptor activated by bile acids that may contribute to cholestatic pruritus JOURNAL Proc. Natl. Acad. Sci. U.S.A. 116 (21), 10525-10530 (2019) PUBMED 31068464 REMARK GeneRIF: data support a model whereby both bile acids and bilirubin contribute to cholestatic itch via agonism at MRGPRX4 REFERENCE 3 (residues 1 to 322) AUTHORS Kozlitina J, Risso D, Lansu K, Olsen RHJ, Sainz E, Luiselli D, Barik A, Frigerio-Domingues C, Pagani L, Wooding S, Kirchner T, Niaura R, Roth B and Drayna D. TITLE An African-specific haplotype in MRGPRX4 is associated with menthol cigarette smoking JOURNAL PLoS Genet. 15 (2), e1007916 (2019) PUBMED 30768591 REMARK GeneRIF: data indicate that genetic variation in MRGPRX4 contributes to inter-individual and inter-ethnic differences in the preference for mentholated cigarettes. Publication Status: Online-Only REFERENCE 4 (residues 1 to 322) AUTHORS Lembo PM, Grazzini E, Groblewski T, O'Donnell D, Roy MO, Zhang J, Hoffert C, Cao J, Schmidt R, Pelletier M, Labarre M, Gosselin M, Fortin Y, Banville D, Shen SH, Strom P, Payza K, Dray A, Walker P and Ahmad S. TITLE Proenkephalin A gene products activate a new family of sensory neuron--specific GPCRs JOURNAL Nat. Neurosci. 5 (3), 201-209 (2002) PUBMED 11850634 REFERENCE 5 (residues 1 to 322) AUTHORS Dong X, Han S, Zylka MJ, Simon MI and Anderson DJ. TITLE A diverse family of GPCRs expressed in specific subsets of nociceptive sensory neurons JOURNAL Cell 106 (5), 619-632 (2001) PUBMED 11551509 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC095509.1, AC090099.14 and CN835944.1. On Jun 9, 2009 this sequence version replaced NP_473373.1. ##Evidence-Data-START## Transcript is intronless :: BC095509.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000314254.3/ ENSP00000314042.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## FEATURES Location/Qualifiers source 1..322 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="11" /map="11p15.1" Protein 1..322 /product="mas-related G-protein coupled receptor member X4" /note="G protein-coupled receptor MRGX4; G protein-coupled receptor SNSR6; G protein-coupled receptor SNSR5; MAS-related GPR, member X4; sensory neuron-specific G-protein coupled receptor 5/6; Mas-related G protein-coupled receptor X4" /calculated_mol_wt=36330 Site 25 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96LA9.2)" Site 32..52 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96LA9.2)" Region 44..272 /region_name="7tm_1" /note="7 transmembrane receptor (rhodopsin family); pfam00001" /db_xref="CDD:278431" Site 61..81 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96LA9.2)" Site 89 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q96LA9.2)" Site 97..117 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96LA9.2)" Site 138..158 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96LA9.2)" Site 178..198 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96LA9.2)" Site 219..239 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96LA9.2)" Site 255..275 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q96LA9.2)" CDS 1..322 /gene="MRGPRX4" /gene_synonym="GPCR; MRGX4; SNSR6" /coded_by="NM_054032.3:421..1389" /db_xref="CCDS:CCDS7831.1" /db_xref="GeneID:117196" /db_xref="HGNC:HGNC:17617" /db_xref="MIM:607230" ORIGIN 1 mdptvpvfgt kltpingree tpcynqtlsf tvltciislv gltgnavvlw llgyrmrrna 61 vsiyilnlaa adflflsfqi irlplrlini shlirkilvs vmtfpyftgl smlsaister 121 clsvlwpiwy rcrrpthlsa vvcvllwgls llfsmlewrf cdflfsgads swcetsdfip 181 vawliflcvv lcvsslvllv rilcgsrkmp ltrlyvtill tvlvfllcgl pfgilgaliy 241 rmhlnlevly chvylvcmsl sslnssanpi iyffvgsfrq rqnrqnlklv lqralqdkpe 301 vdkgegqlpe eslelsgsrl gp // LOCUS NP_001171926 362 aa linear PRI 01-SEP-2020 DEFINITION RING finger protein 32 isoform a [Homo sapiens]. ACCESSION NP_001171926 VERSION NP_001171926.1 DBSOURCE REFSEQ: accession NM_001184997.1 KEYWORDS RefSeq. SOURCE Homo 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 Wang XW, Wei W, Wang WQ, Zhao XY, Guo H and Fang DC. TITLE RING finger proteins are involved in the progression of barrett esophagus to esophageal adenocarcinoma: a preliminary study JOURNAL Gut Liver 8 (5), 487-494 (2014) PUBMED 25228972 REFERENCE 2 (residues 1 to 362) AUTHORS Li H, Wang CY, Wang JX, Wu GS, Yu P, Yan XY, Chen YG, Zhao LH and Zhang YP. TITLE Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly JOURNAL Eur. J. Hum. Genet. 17 (5), 604-610 (2009) PUBMED 19066618 REFERENCE 3 (residues 1 to 362) AUTHORS Wang ZQ, Tian SH, Shi YZ, Zhou PT, Wang ZY, Shu RZ, Hu L and Kong X. TITLE A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family JOURNAL Biochem. Biophys. Res. Commun. 355 (2), 312-317 (2007) PUBMED 17300748 REFERENCE 4 (residues 1 to 362) AUTHORS von Bergh AR, van Drunen E, van Wering ER, van Zutven LJ, Hainmann I, Lonnerholm G, Meijerink JP, Pieters R and Beverloo HB. TITLE High incidence of t(7;12)(q36;p13) in infant AML but not in infant ALL, with a dismal outcome and ectopic expression of HLXB9 JOURNAL Genes Chromosomes Cancer 45 (8), 731-739 (2006) PUBMED 16646086 REFERENCE 5 (residues 1 to 362) AUTHORS van Baren MJ, van der Linde HC, Breedveld GJ, Baarends WM, Rizzu P, de Graaff E, Oostra BA and Heutink P. TITLE A double RING-H2 domain in RNF32, a gene expressed during sperm formation JOURNAL Biochem. Biophys. Res. Commun. 292 (1), 58-65 (2002) PUBMED 11890671 REMARK GeneRIF: molecular cloning of a RING domain protein expressed during sperm formation COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AA412402.1, AF325690.1 and AF441222.1. Summary: The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]. 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 :: AF325690.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..362 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="7" /map="7q36.3" Protein 1..362 /product="RING finger protein 32 isoform a" /calculated_mol_wt=41385 Region 127..171 /region_name="RING" /note="RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in...; cd00162" /db_xref="CDD:238093" Site order(127,130,144,146,149,152,165,168) /site_type="other" /note="cross-brace motif" /db_xref="CDD:238093" Region 188..207 /region_name="IQ" /note="IQ calmodulin-binding motif; pfam00612" /db_xref="CDD:279006" Region 291..352 /region_name="zf-RING_2" /note="Ring finger domain; pfam13639" /db_xref="CDD:290367" CDS 1..362 /gene="RNF32" /gene_synonym="FKSG33; HSD15; LMBR2" /coded_by="NM_001184997.1:189..1277" /note="isoform a is encoded by transcript variant 2" /db_xref="CCDS:CCDS5944.1" /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_127503 403 aa linear PRI 01-SEP-2020 DEFINITION poly(rC)-binding protein 4 isoform c [Homo sapiens]. ACCESSION NP_127503 VERSION NP_127503.1 DBSOURCE REFSEQ: accession NM_033010.2 KEYWORDS RefSeq. SOURCE Homo 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 Ito Y, Narita N, Nomi N, Sugimoto C, Takabayashi T, Yamada T, Karaya K, Matsumoto H and Fujieda S. TITLE Suppression of Poly(rC)-Binding Protein 4 (PCBP4) reduced cisplatin resistance in human maxillary cancer cells JOURNAL Sci Rep 5, 12360 (2015) PUBMED 26196957 REMARK GeneRIF: PCBP4 plays important roles in the induction of cisplatin resistance in human maxillary cancers. Publication Status: Online-Only REFERENCE 2 (residues 1 to 403) 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 3 (residues 1 to 403) AUTHORS Scoumanne A, Cho SJ, Zhang J and Chen X. TITLE The cyclin-dependent kinase inhibitor p21 is regulated by RNA-binding protein PCBP4 via mRNA stability JOURNAL Nucleic Acids Res. 39 (1), 213-224 (2011) PUBMED 20817677 REFERENCE 4 (residues 1 to 403) 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 403) 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 403) AUTHORS Makeyev AV and Liebhaber SA. TITLE The poly(C)-binding proteins: a multiplicity of functions and a search for mechanisms JOURNAL RNA 8 (3), 265-278 (2002) PUBMED 12003487 REMARK Review article REFERENCE 7 (residues 1 to 403) 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 8 (residues 1 to 403) AUTHORS Taylor WR and Stark GR. TITLE Regulation of the G2/M transition by p53 JOURNAL Oncogene 20 (15), 1803-1815 (2001) PUBMED 11313928 REMARK Review article REFERENCE 9 (residues 1 to 403) AUTHORS Makeyev AV and Liebhaber SA. TITLE Identification of two novel mammalian genes establishes a subfamily of KH-domain RNA-binding proteins JOURNAL Genomics 67 (3), 301-316 (2000) PUBMED 10936052 REFERENCE 10 (residues 1 to 403) AUTHORS Zhu J and Chen X. TITLE MCG10, a novel p53 target gene that encodes a KH domain RNA-binding protein, is capable of inducing apoptosis and cell cycle arrest in G(2)-M JOURNAL Mol. Cell. Biol. 20 (15), 5602-5618 (2000) PUBMED 10891498 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF176330.1 and BU684420.1. Summary: This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene is induced by the p53 tumor suppressor, and the encoded protein can suppress cell proliferation by inducing apoptosis and cell cycle arrest in G(2)-M. This gene's protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Multiple alternatively spliced transcript variants have been described, but the full-length nature for only some has been determined. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (4) differs in the 5' UTR, and includes an additional in-frame exon in the central coding region, compared to variant 1. The 5' UTR may be incomplete due to lack of 5'-complete transcript support for this variant, and the presence of alternative splicing choices further upstream. The encoded isoform (c) is longer than isoform a. Variants 3, 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 :: AF176330.1, AF092441.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..403 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="3" /map="3p21.2" Protein 1..403 /product="poly(rC)-binding protein 4 isoform c" /note="RNA binding protein MCG10; LYST-interacting protein; alpha-CP4" /calculated_mol_wt=41351 Region 19..80 /region_name="PCBP_like_KH" /note="K homology RNA-binding domain, PCBP_like. Members of this group possess KH domains in a tandem arrangement. Most members, similar to the poly(C) binding proteins (PCBPs) and Nova, containing three KH domains, with the first and second domains, which are...; cd02396" /db_xref="CDD:239089" Site order(27,29..31,33..37,40..41,44..45,48..51) /site_type="other" /note="nucleic acid binding region [nucleotide binding]" /db_xref="CDD:239089" Site 34..37 /site_type="other" /note="G-X-X-G motif" /db_xref="CDD:239089" Region 103..167 /region_name="PCBP_like_KH" /note="K homology RNA-binding domain, PCBP_like. Members of this group possess KH domains in a tandem arrangement. Most members, similar to the poly(C) binding proteins (PCBPs) and Nova, containing three KH domains, with the first and second domains, which are...; cd02396" /db_xref="CDD:239089" Site order(111,113..115,117..121,124..125,128..129,132..135) /site_type="other" /note="nucleic acid binding region [nucleotide binding]" /db_xref="CDD:239089" Site 118..121 /site_type="other" /note="G-X-X-G motif" /db_xref="CDD:239089" Region 243..307 /region_name="KH_1" /note="KH domain; pfam00013" /db_xref="CDD:306517" Site order(251,253..255,257..261,264..265,268..269,274..277) /site_type="other" /note="nucleic acid binding region [nucleotide binding]" /db_xref="CDD:238053" Site 258..261 /site_type="other" /note="G-X-X-G motif" /db_xref="CDD:238053" CDS 1..403 /gene="PCBP4" /gene_synonym="CBP; LIP4; MCG10" /coded_by="NM_033010.2:148..1359" /note="isoform c is encoded by transcript variant 4" /db_xref="CCDS:CCDS2839.1" /db_xref="GeneID:57060" /db_xref="HGNC:HGNC:8652" /db_xref="MIM:608503" ORIGIN 1 msgsdgglee epelsitltl rmlmhgkevg siigkkgetv krireqssar itisegscpe 61 rittitgsta avfhavsmia fkldedlcaa panggnvsrp pvtlrlvipa sqcgsligka 121 gtkikeiret tgaqvqvagd llpnsterav tvsgvpdaii lcvrqicavi lesppkgati 181 pyhpslslgt vllsanqgfs vqgqygavtp aevtklqqls shavpfatps vvpgldpgtq 241 tssqeflvpn dligcvigrq gskiseirqm sgahikignq aegagerhvt itgspvsial 301 aqylitacle takstsggtp ssapadlpap fsppltalpt appgllgtpy aislsnfigl 361 kpmpflalpp aspgpppgla aytakmaaan gskkaerqkf spy // LOCUS NP_001265054 820 aa linear PRI 01-SEP-2020 DEFINITION disintegrin and metalloproteinase domain-containing protein 29 preproprotein [Homo sapiens]. ACCESSION NP_001265054 VERSION NP_001265054.1 DBSOURCE REFSEQ: accession NM_001278125.1 KEYWORDS RefSeq. SOURCE Homo 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 Zhao M, Jia W, Jiang WG, Wang P, DU G, Cheng S and Song M. TITLE ADAM29 Expression in Human Breast Cancer and its Effects on Breast Cancer Cells In Vitro JOURNAL Anticancer Res. 36 (3), 1251-1258 (2016) PUBMED 26977022 REMARK GeneRIF: Increased transcript expression of ADAM29 was observed in breast cancer tissues compared to normal ones. The expression of ADAM29 and its mutations in different domains significantly influenced proliferation, migration and invasion of breast cancer cells in vitro. REFERENCE 2 (residues 1 to 820) AUTHORS Lin SW, Tsai CN, Lee YS, Chu SF and Chen NH. TITLE Gene expression profiles in peripheral blood mononuclear cells of Asian obstructive sleep apnea patients JOURNAL Biomed J 37 (2), 60-70 (2014) PUBMED 24732660 REMARK GeneRIF: PCMC expression of ADAM29, FLRT2, and SLC18A3 could be assessed as part of a routine screen to help identify individuals at risk of severe Obstructive sleep apnea in Asian populations REFERENCE 3 (residues 1 to 820) AUTHORS Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q, Dicks E, Lee A, Turnbull C, Rahman N, Fletcher O, Peto J, Gibson L, Dos Santos Silva I, Nevanlinna H, Muranen TA, Aittomaki K, Blomqvist C, Czene K, Irwanto A, Liu J, Waisfisz Q, Meijers-Heijboer H, Adank M, van der Luijt RB, Hein R, Dahmen N, Beckman L, Meindl A, Schmutzler RK, Muller-Myhsok B, Lichtner P, Hopper JL, Southey MC, Makalic E, Schmidt DF, Uitterlinden AG, Hofman A, Hunter DJ, Chanock SJ, Vincent D, Bacot F, Tessier DC, Canisius S, Wessels LF, Haiman CA, Shah M, Luben R, Brown J, Luccarini C, Schoof N, Humphreys K, Li J, Nordestgaard BG, Nielsen SF, Flyger H, Couch FJ, Wang X, Vachon C, Stevens KN, Lambrechts D, Moisse M, Paridaens R, Christiaens MR, Rudolph A, Nickels S, Flesch-Janys D, Johnson N, Aitken Z, Aaltonen K, Heikkinen T, Broeks A, Veer LJ, van der Schoot CE, Guenel P, Truong T, Laurent-Puig P, Menegaux F, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Zamora MP, Perez JI, Pita G, Alonso MR, Cox A, Brock IW, Cross SS, Reed MW, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Henderson BE, Schumacher F, Le Marchand L, Andrulis IL, Knight JA, Glendon G, Mulligan AM, Lindblom A, Margolin S, Hooning MJ, Hollestelle A, van den Ouweland AM, Jager A, Bui QM, Stone J, Dite GS, Apicella C, Tsimiklis H, Giles GG, Severi G, Baglietto L, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Muller H, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Jones M, Figueroa J, Lissowska J, Brinton L, Goldberg MS, Labreche F, Dumont M, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, Brauch H, Hamann U, Bruning T, Radice P, Peterlongo P, Manoukian S, Bonanni B, Devilee P, Tollenaar RA, Seynaeve C, van Asperen CJ, Jakubowska A, Lubinski J, Jaworska K, Durda K, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Bogdanova NV, Antonenkova NN, Dork T, Kristensen VN, Anton-Culver H, Slager S, Toland AE, Edge S, Fostira F, Kang D, Yoo KY, Noh DY, Matsuo K, Ito H, Iwata H, Sueta A, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Shu XO, Lu W, Gao YT, Cai H, Teo SH, Yip CH, Phuah SY, Cornes BK, Hartman M, Miao H, Lim WY, Sng JH, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Shen CY, Hsiung CN, Wu PE, Ding SL, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Blot WJ, Signorello LB, Cai Q, Zheng W, Deming-Halverson S, Shrubsole M, Long J, Simard J, Garcia-Closas M, Pharoah PD, Chenevix-Trench G, Dunning AM, Benitez J and Easton DF. CONSRTM Breast and Ovarian Cancer Susceptibility Collaboration; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON); kConFab Investigators; Australian Ovarian Cancer Study Group; GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network TITLE Large-scale genotyping identifies 41 new loci associated with breast cancer risk JOURNAL Nat. Genet. 45 (4), 353-361 (2013) PUBMED 23535729 REFERENCE 4 (residues 1 to 820) AUTHORS Wei X, Moncada-Pazos A, Cal S, Soria-Valles C, Gartner J, Rudloff U, Lin JC, Rosenberg SA, Lopez-Otin C and Samuels Y. CONSRTM NISC Comparative Sequencing Program TITLE Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma JOURNAL Hum. Mutat. 32 (6), E2148-E2175 (2011) PUBMED 21618342 REMARK GeneRIF: mutated ADAM27 and ADAM7 genes could play a role in melanoma progression. REFERENCE 5 (residues 1 to 820) AUTHORS Maloum K, Settegrana C, Chapiro E, Cazin B, Lepretre S, Delmer A, Leporrier M, Dreyfus B, Tournilhac O, Mahe B, Nguyen-Khac F, Lesty C, Davi F and Merle-Beral H. TITLE IGHV gene mutational status and LPL/ADAM29 gene expression as clinical outcome predictors in CLL patients in remission following treatment with oral fludarabine plus cyclophosphamide JOURNAL Ann. Hematol. 88 (12), 1215-1221 (2009) PUBMED 19340428 REMARK GeneRIF: Results support the use of LPL and ADAM29 gene expression associated to IGHV mutational status for predicting the clinical outcome of patients treated by oral fludarabine + cyclophosphamide and could be considered for treatment strategies. REFERENCE 6 (residues 1 to 820) AUTHORS Oppezzo P, Vasconcelos Y, Settegrana C, Jeannel D, Vuillier F, Legarff-Tavernier M, Kimura EY, Bechet S, Dumas G, Brissard M, Merle-Beral H, Yamamoto M, Dighiero G and Davi F. CONSRTM French Cooperative Group on CLL TITLE The LPL/ADAM29 expression ratio is a novel prognosis indicator in chronic lymphocytic leukemia JOURNAL Blood 106 (2), 650-657 (2005) PUBMED 15802535 REMARK GeneRIF: quantification of LPL and ADAM29 gene expression is a strong prognostic indicator in CLL, providing better prognostic assessment than ZAP-70 in advanced stages of the disease REFERENCE 7 (residues 1 to 820) AUTHORS Xu R, Cai J, Xu T, Zhou W, Ying B, Deng K, Zhao S and Li C. TITLE Molecular cloning and mapping of a novel ADAM gene (ADAM29) to human chromosome 4 JOURNAL Genomics 62 (3), 537-539 (1999) PUBMED 10644455 REFERENCE 8 (residues 1 to 820) AUTHORS Cerretti DP, DuBose RF, Black RA and Nelson N. TITLE Isolation of two novel metalloproteinase-disintegrin (ADAM) cDNAs that show testis-specific gene expression JOURNAL Biochem. Biophys. Res. Commun. 263 (3), 810-815 (1999) PUBMED 10512762 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC105914.4, DB078627.1, AK292410.1 and BC036070.1. Summary: This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [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, 6, 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 :: DB078627.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2151119, SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..820 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="4" /map="4q34.1" Protein 1..820 /product="disintegrin and metalloproteinase domain-containing protein 29 preproprotein" /note="a disintegrin and metalloproteinase domain 29; cancer/testis antigen 73; disintegrin and metalloproteinase domain-containing protein 29; metallaproteinase-disintegrin (ADAM29); testis secretory sperm-binding protein Li 207a; epididymis secretory sperm binding protein" /calculated_mol_wt=90812 sig_peptide 1..18 /inference="COORDINATES: ab initio prediction:SignalP:4.0" /calculated_mol_wt=1966 proprotein 19..820 /product="disintegrin and metalloproteinase domain-containing protein 29 proprotein" /calculated_mol_wt=90812 Region 32..150 /region_name="Pep_M12B_propep" /note="Reprolysin family propeptide; pfam01562" /db_xref="CDD:307618" mat_peptide 194..820 /product="Disintegrin and metalloproteinase domain-containing protein 29. /id=PRO_0000029135" /note="propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" /calculated_mol_wt=70710 Region 198..386 /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 217 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Site 320 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Site order(332..333,336,342) /site_type="active" /db_xref="CDD:239797" Site 368 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Region 406..478 /region_name="Disintegrin" /note="Disintegrin; pfam00200" /db_xref="CDD:306668" Site 428 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Site 469 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Region 483..618 /region_name="ACR" /note="ADAM Cysteine-Rich Domain; smart00608" /db_xref="CDD:214743" Site 538 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Site 545 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Site 558 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Site 564 /site_type="glycosylation" /note="N-linked (GlcNAc...) asparagine. /evidence=ECO:0000255; propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Site 675..695 /site_type="transmembrane region" /note="propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" Region <725..>819 /region_name="PAT1" /note="Topoisomerase II-associated protein PAT1; cl25764" /db_xref="CDD:330585" Region 739..819 /region_name="9 X 9 AA approximate repeats" /note="propagated from UniProtKB/Swiss-Prot (Q9UKF5.3)" CDS 1..820 /gene="ADAM29" /gene_synonym="CT73; svph1" /coded_by="NM_001278125.1:732..3194" /db_xref="CCDS:CCDS3823.1" /db_xref="GeneID:11086" /db_xref="HGNC:HGNC:207" /db_xref="MIM:604778" ORIGIN 1 mkmllllhcl gvflscsghi qdehpqyhsp pdvvipvrit gttrgmtppg wlsyilpfgg 61 qkhiihikvk kllfskhlpv ftytdqgail edqpfvqnnc yyhgyvegdp eslvslstcf 121 ggfqgilqin dfayeikpla fsttfehlvy kmdseekqfs tmrsgfmqne itcrmefeei 181 dnstqkqssy vgwwihfriv eivvvidnyl yiryerndsk lledlyvivn ivdsildvig 241 vkvllfglei wtnknlivvd dvrksvhlyc kwksenitpr mqhdtshlft tlglrglsgi 301 gafrgmctph rscaivtfmn ktlgtfsiav ahhlghnlgm nhdedtcrcs qprcimhegn 361 ppitkfsncs ygdfweytve rtkclletvh tkdifnvkrc gngvveegee cdcgplkhca 421 kdpcclsnct ltdgstcafg lcckdckflp sgkvcrkevn ecdlpewcng tshkcpddfy 481 vedgipcker gycyekschd rneqcrrifg agantasetc ykelntlgdr vghcgiknat 541 yikcnisdvq cgriqcenvt eipnmsdhtt vhwarfndim cwstdyhlgm kgpdigevkd 601 gtecgidhic ihrhcvhiti lnsncspafc nkrgicnnkh hchcnylwdp pnclikgygg 661 svdsgpppkr kkkkkfcylc illlivlfil lcclyrlckk skpikkqqdv qtpsakeeek 721 iqrrphelpp qsqpwvmpsq sqppvtpsqs hpqvmpsqsq ppvtpsqsqp rvmpsqsqpp 781 vmpsqshpql tpsqsqppvt psqrqpqlmp sqsqppvtps // LOCUS NP_001002017 119 aa linear PRI 01-SEP-2020 DEFINITION host cell factor C1 regulator 1 isoform 2 [Homo sapiens]. ACCESSION NP_001002017 VERSION NP_001002017.1 DBSOURCE REFSEQ: accession NM_001002017.2 KEYWORDS RefSeq. SOURCE Homo 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 Wang Y, Li M, Meng F and Lou G. TITLE HPIP expression predicts chemoresistance and poor clinical outcomes in patients with epithelial ovarian cancer JOURNAL Hum. Pathol. 60, 114-120 (2017) PUBMED 27818289 REMARK GeneRIF: HPIP overexpression is an independent predictor of platinum-based chemotherapy resistance in epithelial ovarian neoplasms. REFERENCE 2 (residues 1 to 119) AUTHORS Wang SC, Chai DS, Chen CB, Wang ZY and Wang L. TITLE HPIP promotes thyroid cancer cell growth, migration and EMT through activating PI3K/AKT signaling pathway JOURNAL Biomed. Pharmacother. 75, 33-39 (2015) PUBMED 26463629 REMARK GeneRIF: HPIP promotes thyroid cancer cell growth, migration and epithelial mesenchymal transformation through activating PI3K/AKT signaling pathway. REFERENCE 3 (residues 1 to 119) AUTHORS Feng Y, Xu X, Zhang Y, Ding J, Wang Y, Zhang X, Wu Z, Kang L, Liang Y, Zhou L, Song S, Zhao K and Ye Q. TITLE HPIP is upregulated in colorectal cancer and regulates colorectal cancer cell proliferation, apoptosis and invasion JOURNAL Sci Rep 5, 9429 (2015) PUBMED 25800793 REMARK GeneRIF: HPIP is upregulated in colorectal cancer and regulates colorectal cancer cell proliferation, apoptosis and invasion Publication Status: Online-Only REFERENCE 4 (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 5 (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 6 (residues 1 to 119) 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 119) AUTHORS Mahajan SS, Little MM, Vazquez R and Wilson AC. TITLE Interaction of HCF-1 with a cellular nuclear export factor JOURNAL J. Biol. Chem. 277 (46), 44292-44299 (2002) PUBMED 12235138 REMARK GeneRIF: HPIP regulates HCF-1 activity by modulating its subcellular localization COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BM790570.1, BC064026.1 and BU633901.1. 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. Both variants 2 and 5 encode the same isoform. ##Evidence-Data-START## Transcript exon combination :: BC080178.1, AK293768.1 [ECO:0000332] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..119 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="16" /map="16p13.3" Protein 1..119 /product="host cell factor C1 regulator 1 isoform 2" /note="host cell factor C1 regulator 1 (XPO1 dependent); HCF-1 beta-propeller-interacting protein" /calculated_mol_wt=13062 Region 2..113 /region_name="HPIP" /note="HCF-1 beta-propeller-interacting protein family; pfam15226" /db_xref="CDD:317610" CDS 1..119 /gene="HCFC1R1" /gene_synonym="HPIP" /coded_by="NM_001002017.2:346..705" /note="isoform 2 is encoded by transcript variant 2" /db_xref="CCDS:CCDS32375.1" /db_xref="GeneID:54985" /db_xref="HGNC:HGNC:21198" /db_xref="MIM:618818" ORIGIN 1 milqqplqrg pqggaqrlpr aalgvtwgld areplrkqfl seenmathfs qlslhndhpy 61 csppmtfspa lpplrspcse lllwrypgsl ipealrllrl gdtpsppypa tpagdimel // LOCUS NP_705872 597 aa linear PRI 01-SEP-2020 DEFINITION semaphorin-6D isoform 5 precursor [Homo sapiens]. ACCESSION NP_705872 VERSION NP_705872.1 DBSOURCE REFSEQ: accession NM_153619.1 KEYWORDS RefSeq. SOURCE Homo 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 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 597) 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 3 (residues 1 to 597) 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 4 (residues 1 to 597) 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 597) AUTHORS Della-Morte D, Wang L, Beecham A, Blanton SH, Zhao H, Sacco RL, Rundek T and Dong C. TITLE Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics JOURNAL J. Neurol. Sci. 344 (1-2), 27-31 (2014) PUBMED 24954085 REFERENCE 6 (residues 1 to 597) 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 597) 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 597) 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 597) 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 597) 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 AF389427.1 and BC004330.1. 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## RNAseq introns :: single sample supports all introns SAMEA2144333, SAMEA2151405 [ECO:0000348] ##Evidence-Data-END## FEATURES Location/Qualifiers source 1..597 /organism="Homo sapiens" /db_xref="taxon:9606" /chromosome="15" /map="15q21.1" Protein 1..597 /product="semaphorin-6D isoform 5 precursor" /note="sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D" /calculated_mol_wt=65202 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 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" Region 514..569 /region_name="PSI" /note="Plexin repeat; pfam01437" /db_xref="CDD:279745" CDS 1..597 /gene="SEMA6D" /coded_by="NM_153619.1:440..2233" /note="isoform 5 precursor is encoded by transcript variant 5" /db_xref="CCDS:CCDS32228.1" /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 ntahlgdchd mevssssvtt mvydgkssle sptrwst //