TM9S1_HUMAN
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 03-AUG-2022, entry version 161.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC 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 a new
RT 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., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., 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., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA 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., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., 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 project:
RT 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 {ECO:0000269|PubMed:19029833};
CC Multi-pass membrane protein {ECO:0000269|PubMed:19029833}. Cytoplasmic
CC vesicle, autophagosome membrane {ECO:0000269|PubMed:19029833}; Multi-
CC pass membrane 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 -!- 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 AlphaFoldDB; O15321; -.
DR BioGRID; 115799; 96.
DR IntAct; O15321; 18.
DR MINT; O15321; -.
DR STRING; 9606.ENSP00000261789; -.
DR TCDB; 8.A.68.1.13; the endomembrane protein-70 (emp70) family.
DR GlyConnect; 1841; 1 N-Linked glycan (1 site).
DR GlyGen; O15321; 3 sites, 1 N-linked glycan (1 site).
DR iPTMnet; O15321; -.
DR PhosphoSitePlus; O15321; -.
DR SwissPalm; O15321; -.
DR BioMuta; TM9SF1; -.
DR EPD; O15321; -.
DR jPOST; O15321; -.
DR MassIVE; O15321; -.
DR MaxQB; O15321; -.
DR PaxDb; O15321; -.
DR PeptideAtlas; O15321; -.
DR PRIDE; O15321; -.
DR ProteomicsDB; 48589; -. [O15321-1]
DR ProteomicsDB; 48590; -. [O15321-2]
DR ABCD; O15321; 3 sequenced antibodies.
DR Antibodypedia; 9042; 267 antibodies from 28 providers.
DR DNASU; 10548; -.
DR Ensembl; ENST00000261789.9; ENSP00000261789.4; ENSG00000100926.15. [O15321-1]
DR Ensembl; ENST00000396854.8; ENSP00000380063.4; ENSG00000100926.15. [O15321-2]
DR Ensembl; ENST00000646500.1; ENSP00000494851.1; ENSG00000285465.2. [O15321-2]
DR Ensembl; ENST00000646762.2; ENSP00000494320.1; ENSG00000285465.2. [O15321-1]
DR GeneID; 10548; -.
DR KEGG; hsa:10548; -.
DR MANE-Select; ENST00000261789.9; ENSP00000261789.4; NM_006405.7; NP_006396.2.
DR UCSC; uc001wnb.3; human. [O15321-1]
DR CTD; 10548; -.
DR GeneCards; TM9SF1; -.
DR HGNC; HGNC:11864; TM9SF1.
DR HPA; ENSG00000100926; Low tissue specificity.
DR MIM; 618965; gene.
DR neXtProt; NX_O15321; -.
DR OpenTargets; ENSG00000100926; -.
DR PharmGKB; PA36565; -.
DR VEuPathDB; HostDB:ENSG00000100926; -.
DR eggNOG; KOG1277; Eukaryota.
DR eggNOG; KOG1656; Eukaryota.
DR GeneTree; ENSGT00940000158667; -.
DR HOGENOM; CLU_010714_0_2_1; -.
DR InParanoid; O15321; -.
DR OrthoDB; 641127at2759; -.
DR PhylomeDB; O15321; -.
DR TreeFam; TF328663; -.
DR PathwayCommons; O15321; -.
DR SignaLink; O15321; -.
DR BioGRID-ORCS; 10548; 14 hits in 1072 CRISPR screens.
DR ChiTaRS; TM9SF1; human.
DR GenomeRNAi; 10548; -.
DR Pharos; O15321; Tdark.
DR PRO; PR:O15321; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; O15321; protein.
DR Bgee; ENSG00000100926; Expressed in stromal cell of endometrium and 112 other tissues.
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; Cytoplasmic vesicle; Glycoprotein;
KW Lysosome; Membrane; Reference proteome; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..27
FT /evidence="ECO:0000255"
FT CHAIN 28..606
FT /note="Transmembrane 9 superfamily member 1"
FT /id="PRO_0000034361"
FT TRANSMEM 237..257
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 310..330
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 339..359
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 373..393
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 412..432
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 469..489
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 499..519
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 535..555
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 570..590
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 178
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 401
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 559
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 476..606
FT /note="SAISVELYYIFATVWGREQYTLYGILFFVFAILLSVGACISIALTYFQLSGE
FT DYRWWWRSVLSVGSTGLFIFLYSVFYYARRSNMSGAVQTVEFFGYSLLTGYVFFLMLGT
FT ISFFSSLKFIRYIYVNLKMD -> RYPPFIPWLLLSGS (in isoform 2)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_042781"
FT VARIANT 18
FT /note="L -> M (in dbSNP:rs11549700)"
FT /id="VAR_053728"
FT VARIANT 215
FT /note="R -> H (in dbSNP:rs10583)"
FT /id="VAR_024662"
FT CONFLICT 455
FT /note="P -> N (in Ref. 1; AAC51782)"
FT /evidence="ECO:0000305"
FT CONFLICT 464
FT /note="V -> D (in Ref. 1; AAC51782)"
FT /evidence="ECO:0000305"
FT CONFLICT 514
FT /note="C -> S (in Ref. 1; AAC51782)"
FT /evidence="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
