ID   TM9S1_HUMAN             Reviewed;         606 AA.
AC   O15321; D3DS65; Q86SZ6; Q96FI8;
DT   27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT   29-MAR-2005, sequence version 2.
DT   13-FEB-2019, entry version 142.
DE   RecName: Full=Transmembrane 9 superfamily member 1;
DE   AltName: Full=MP70 protein family member;
DE            Short=hMP70;
DE   Flags: Precursor;
GN   Name=TM9SF1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC   TISSUE=Melanoma;
RX   PubMed=9332367; DOI=10.1016/S0378-1119(97)00263-1;
RA   Chluba-de Tapia J., de Tapia M., Jaeggin V., Eberle A.N.;
RT   "Cloning of a human multispanning membrane protein cDNA: evidence for
RT   a new protein family.";
RL   Gene 197:195-204(1997).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC   TISSUE=Neuroblastoma, and T-cell;
RA   Li W.B., Gruber C., Jessee J., Polayes D.;
RT   "Full-length cDNA libraries and normalization.";
RL   Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=12508121; DOI=10.1038/nature01348;
RA   Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA   Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA   Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S.,
RA   Sun H., Du H., Pepin K., Artiguenave F., Robert C., Cruaud C.,
RA   Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P.,
RA   Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N.,
RA   Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C.,
RA   Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S.,
RA   Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B.,
RA   Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M.,
RA   Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S.,
RA   Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D.,
RA   Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A.,
RA   Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA   Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA   Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L.,
RA   Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J.,
RA   Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W.,
RA   Quetier F., Waterston R., Hood L., Weissenbach J.;
RT   "The DNA sequence and analysis of human chromosome 14.";
RL   Nature 421:601-607(2003).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Pancreas;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [6]
RP   FUNCTION, AND SUBCELLULAR LOCATION.
RX   PubMed=19029833; DOI=10.4161/auto.5.1.7247;
RA   He P., Peng Z., Luo Y., Wang L., Yu P., Deng W., An Y., Shi T., Ma D.;
RT   "High-throughput functional screening for autophagy-related genes and
RT   identification of TM9SF1 as an autophagosome-inducing gene.";
RL   Autophagy 5:52-60(2009).
CC   -!- FUNCTION: Plays an essential role in autophagy.
CC       {ECO:0000269|PubMed:19029833}.
CC   -!- SUBCELLULAR LOCATION: Lysosome membrane
CC       {ECO:0000269|PubMed:19029833}; Multi-pass membrane protein
CC       {ECO:0000269|PubMed:19029833}. Cytoplasmic vesicle, autophagosome
CC       membrane {ECO:0000269|PubMed:19029833}; Multi-pass membrane
CC       protein {ECO:0000269|PubMed:19029833}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=O15321-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=O15321-2; Sequence=VSP_042781;
CC         Note=No experimental confirmation available.;
CC   -!- TISSUE SPECIFICITY: Expressed in lung, pancreas, kidney, liver,
CC       placenta, skeletal muscle, heart and brain. The amount in skeletal
CC       muscle, heart and brain were considerably lower than in the other
CC       tissues. {ECO:0000269|PubMed:9332367}.
CC   -!- SIMILARITY: Belongs to the nonaspanin (TM9SF) (TC 9.A.2) family.
CC       {ECO:0000305}.
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DR   EMBL; U94831; AAC51782.1; -; mRNA.
DR   EMBL; BX161390; CAD61879.1; -; mRNA.
DR   EMBL; BX161494; CAD61941.1; -; mRNA.
DR   EMBL; AL096870; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL136295; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471078; EAW66073.1; -; Genomic_DNA.
DR   EMBL; CH471078; EAW66075.1; -; Genomic_DNA.
DR   EMBL; CH471078; EAW66076.1; -; Genomic_DNA.
DR   EMBL; BC010856; AAH10856.1; -; mRNA.
DR   CCDS; CCDS41934.1; -. [O15321-2]
DR   CCDS; CCDS9617.1; -. [O15321-1]
DR   RefSeq; NP_001014842.1; NM_001014842.2. [O15321-2]
DR   RefSeq; NP_001275935.1; NM_001289006.1.
DR   RefSeq; NP_006396.2; NM_006405.6. [O15321-1]
DR   UniGene; Hs.91586; -.
DR   ProteinModelPortal; O15321; -.
DR   BioGrid; 115799; 10.
DR   IntAct; O15321; 12.
DR   MINT; O15321; -.
DR   STRING; 9606.ENSP00000433967; -.
DR   TCDB; 8.A.68.1.13; the endomembrane protein-70 (emp70) family.
DR   GlyConnect; 1841; -.
DR   iPTMnet; O15321; -.
DR   PhosphoSitePlus; O15321; -.
DR   BioMuta; TM9SF1; -.
DR   EPD; O15321; -.
DR   jPOST; O15321; -.
DR   MaxQB; O15321; -.
DR   PaxDb; O15321; -.
DR   PeptideAtlas; O15321; -.
DR   PRIDE; O15321; -.
DR   ProteomicsDB; 48589; -.
DR   ProteomicsDB; 48590; -. [O15321-2]
DR   Ensembl; ENST00000261789; ENSP00000261789; ENSG00000100926. [O15321-1]
DR   Ensembl; ENST00000396854; ENSP00000380063; ENSG00000100926. [O15321-2]
DR   Ensembl; ENST00000646500; ENSP00000494851; ENSG00000285465. [O15321-2]
DR   Ensembl; ENST00000646762; ENSP00000494320; ENSG00000285465. [O15321-1]
DR   GeneID; 10548; -.
DR   KEGG; hsa:10548; -.
DR   UCSC; uc001wnb.3; human. [O15321-1]
DR   CTD; 10548; -.
DR   EuPathDB; HostDB:ENSG00000100926.14; -.
DR   GeneCards; TM9SF1; -.
DR   H-InvDB; HIX0079613; -.
DR   HGNC; HGNC:11864; TM9SF1.
DR   HPA; HPA059249; -.
DR   neXtProt; NX_O15321; -.
DR   OpenTargets; ENSG00000100926; -.
DR   PharmGKB; PA36565; -.
DR   eggNOG; KOG1277; Eukaryota.
DR   eggNOG; KOG1656; Eukaryota.
DR   eggNOG; ENOG410XSVB; LUCA.
DR   GeneTree; ENSGT00940000158667; -.
DR   HOGENOM; HOG000216680; -.
DR   HOVERGEN; HBG108585; -.
DR   InParanoid; O15321; -.
DR   KO; K17085; -.
DR   OrthoDB; 641127at2759; -.
DR   PhylomeDB; O15321; -.
DR   TreeFam; TF328663; -.
DR   ChiTaRS; TM9SF1; human.
DR   GenomeRNAi; 10548; -.
DR   PRO; PR:O15321; -.
DR   Proteomes; UP000005640; Chromosome 14.
DR   Bgee; ENSG00000100926; Expressed in 127 organ(s), highest expression level in body of pancreas.
DR   ExpressionAtlas; O15321; baseline and differential.
DR   Genevisible; O15321; HS.
DR   GO; GO:0000421; C:autophagosome membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0031410; C:cytoplasmic vesicle; IEA:UniProtKB-KW.
DR   GO; GO:0016021; C:integral component of membrane; TAS:ProtInc.
DR   GO; GO:0005765; C:lysosomal membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0016020; C:membrane; IBA:GO_Central.
DR   GO; GO:0006914; P:autophagy; IEA:UniProtKB-KW.
DR   GO; GO:0072657; P:protein localization to membrane; IBA:GO_Central.
DR   InterPro; IPR004240; EMP70.
DR   PANTHER; PTHR10766; PTHR10766; 1.
DR   Pfam; PF02990; EMP70; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Autophagy; Complete proteome;
KW   Cytoplasmic vesicle; Glycoprotein; Lysosome; Membrane; Polymorphism;
KW   Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT   SIGNAL        1     27       {ECO:0000255}.
FT   CHAIN        28    606       Transmembrane 9 superfamily member 1.
FT                                /FTId=PRO_0000034361.
FT   TRANSMEM    237    257       Helical. {ECO:0000255}.
FT   TRANSMEM    310    330       Helical. {ECO:0000255}.
FT   TRANSMEM    339    359       Helical. {ECO:0000255}.
FT   TRANSMEM    373    393       Helical. {ECO:0000255}.
FT   TRANSMEM    412    432       Helical. {ECO:0000255}.
FT   TRANSMEM    469    489       Helical. {ECO:0000255}.
FT   TRANSMEM    499    519       Helical. {ECO:0000255}.
FT   TRANSMEM    535    555       Helical. {ECO:0000255}.
FT   TRANSMEM    570    590       Helical. {ECO:0000255}.
FT   CARBOHYD    178    178       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    401    401       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   CARBOHYD    559    559       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   VAR_SEQ     476    606       SAISVELYYIFATVWGREQYTLYGILFFVFAILLSVGACIS
FT                                IALTYFQLSGEDYRWWWRSVLSVGSTGLFIFLYSVFYYARR
FT                                SNMSGAVQTVEFFGYSLLTGYVFFLMLGTISFFSSLKFIRY
FT                                IYVNLKMD -> RYPPFIPWLLLSGS (in isoform
FT                                2). {ECO:0000303|Ref.2}.
FT                                /FTId=VSP_042781.
FT   VARIANT      18     18       L -> M (in dbSNP:rs11549700).
FT                                /FTId=VAR_053728.
FT   VARIANT     215    215       R -> H (in dbSNP:rs10583).
FT                                /FTId=VAR_024662.
FT   CONFLICT    455    455       P -> N (in Ref. 1; AAC51782).
FT                                {ECO:0000305}.
FT   CONFLICT    464    464       V -> D (in Ref. 1; AAC51782).
FT                                {ECO:0000305}.
FT   CONFLICT    514    514       C -> S (in Ref. 1; AAC51782).
FT                                {ECO:0000305}.
SQ   SEQUENCE   606 AA;  68861 MW;  7E0E790B5C1451B9 CRC64;
     MTVVGNPRSW SCQWLPILIL LLGTGHGPGV EGVTHYKAGD PVILYVNKVG PYHNPQETYH
     YYQLPVCCPE KIRHKSLSLG EVLDGDRMAE SLYEIRFREN VEKRILCHMQ LSSAQVEQLR
     QAIEELYYFE FVVDDLPIRG FVGYMEESGF LPHSHKIGLW THLDFHLEFH GDRIIFANVS
     VRDVKPHSLD GLRPDEFLGL THTYSVRWSE TSVERRSDRR RGDDGGFFPR TLEIHWLSII
     NSMVLVFLLV GFVAVILMRV LRNDLARYNL DEETTSAGSG DDFDQGDNGW KIIHTDVFRF
     PPYRGLLCAV LGVGAQFLAL GTGIIVMALL GMFNVHRHGA INSAAILLYA LTCCISGYVS
     SHFYRQIGGE RWVWNIILTT SLFSVPFFLT WSVVNSVHWA NGSTQALPAT TILLLLTVWL
     LVGFPLTVIG GIFGKNNASP FDAPCRTKNI AREIPPQPWY KSTVIHMTVG GFLPFSAISV
     ELYYIFATVW GREQYTLYGI LFFVFAILLS VGACISIALT YFQLSGEDYR WWWRSVLSVG
     STGLFIFLYS VFYYARRSNM SGAVQTVEFF GYSLLTGYVF FLMLGTISFF SSLKFIRYIY
     VNLKMD
//