VSIG1_HUMAN
ID VSIG1_HUMAN Reviewed; 387 AA.
AC Q86XK7; C9J4P2; Q6MZS4;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2003, sequence version 1.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=V-set and immunoglobulin domain-containing protein 1;
DE AltName: Full=Cell surface A33 antigen;
DE AltName: Full=Glycoprotein A34;
DE Flags: Precursor;
GN Name=VSIG1; Synonyms=GPA34;
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 [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Stomach;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
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 [5]
RP IDENTIFICATION, TISSUE SPECIFICITY, AND GLYCOSYLATION.
RX PubMed=16405301;
RA Scanlan M.J., Ritter G., Yin B.W., Williams C. Jr., Cohen L.S.,
RA Coplan K.A., Fortunato S.R., Frosina D., Lee S.Y., Murray A.E., Chua R.,
RA Filonenko V.V., Sato E., Old L.J., Jungbluth A.A.;
RT "Glycoprotein A34, a novel target for antibody-based cancer
RT immunotherapy.";
RL Cancer Immun. 6:2-2(2006).
CC -!- INTERACTION:
CC Q86XK7; P54852: EMP3; NbExp=3; IntAct=EBI-18323486, EBI-3907816;
CC Q86XK7; Q04756: HGFAC; NbExp=3; IntAct=EBI-18323486, EBI-1041722;
CC Q86XK7; Q9NZG7: NINJ2; NbExp=3; IntAct=EBI-18323486, EBI-10317425;
CC Q86XK7; O75841: UPK1B; NbExp=3; IntAct=EBI-18323486, EBI-12237619;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q86XK7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86XK7-2; Sequence=VSP_045475;
CC -!- TISSUE SPECIFICITY: Detected only in stomach mucosa and testis, and to
CC a much lesser level in pancreas (at protein level). Detected in gastric
CC cancers (31%), esophageal carcinomas (50%) and ovarian cancers (23%).
CC {ECO:0000269|PubMed:16405301}.
CC -!- PTM: Highly N-glycosylated. Appears not to contain significant amounts
CC of O-linked carbohydrates or sialic acid in its sugar moieties.
CC {ECO:0000269|PubMed:16405301}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAE45954.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK301311; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BX640913; CAE45954.1; ALT_INIT; mRNA.
DR EMBL; BX648658; CAH56142.1; -; mRNA.
DR EMBL; AL031177; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL953860; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC043216; AAH43216.1; -; mRNA.
DR EMBL; BK005767; DAA05750.1; -; mRNA.
DR CCDS; CCDS14535.1; -. [Q86XK7-1]
DR CCDS; CCDS55474.1; -. [Q86XK7-2]
DR RefSeq; NP_001164024.1; NM_001170553.1. [Q86XK7-2]
DR RefSeq; NP_872413.1; NM_182607.4. [Q86XK7-1]
DR AlphaFoldDB; Q86XK7; -.
DR SMR; Q86XK7; -.
DR BioGRID; 131072; 89.
DR IntAct; Q86XK7; 61.
DR STRING; 9606.ENSP00000402219; -.
DR GlyGen; Q86XK7; 5 sites.
DR PhosphoSitePlus; Q86XK7; -.
DR BioMuta; VSIG1; -.
DR DMDM; 74759503; -.
DR MassIVE; Q86XK7; -.
DR PeptideAtlas; Q86XK7; -.
DR PRIDE; Q86XK7; -.
DR ProteomicsDB; 70295; -. [Q86XK7-1]
DR ProteomicsDB; 8507; -.
DR Antibodypedia; 29360; 187 antibodies from 27 providers.
DR DNASU; 340547; -.
DR Ensembl; ENST00000217957.10; ENSP00000217957.3; ENSG00000101842.14. [Q86XK7-1]
DR Ensembl; ENST00000415430.7; ENSP00000402219.3; ENSG00000101842.14. [Q86XK7-2]
DR GeneID; 340547; -.
DR KEGG; hsa:340547; -.
DR MANE-Select; ENST00000217957.10; ENSP00000217957.3; NM_182607.5; NP_872413.1.
DR UCSC; uc004eno.4; human. [Q86XK7-1]
DR CTD; 340547; -.
DR DisGeNET; 340547; -.
DR GeneCards; VSIG1; -.
DR HGNC; HGNC:28675; VSIG1.
DR HPA; ENSG00000101842; Tissue enriched (stomach).
DR MIM; 300620; gene.
DR neXtProt; NX_Q86XK7; -.
DR OpenTargets; ENSG00000101842; -.
DR PharmGKB; PA134944198; -.
DR VEuPathDB; HostDB:ENSG00000101842; -.
DR eggNOG; ENOG502QU0R; Eukaryota.
DR GeneTree; ENSGT00940000160507; -.
DR HOGENOM; CLU_040549_4_0_1; -.
DR InParanoid; Q86XK7; -.
DR OMA; EEGYYQC; -.
DR OrthoDB; 841952at2759; -.
DR PhylomeDB; Q86XK7; -.
DR TreeFam; TF318234; -.
DR PathwayCommons; Q86XK7; -.
DR SignaLink; Q86XK7; -.
DR BioGRID-ORCS; 340547; 12 hits in 700 CRISPR screens.
DR ChiTaRS; VSIG1; human.
DR GenomeRNAi; 340547; -.
DR Pharos; Q86XK7; Tbio.
DR PRO; PR:Q86XK7; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q86XK7; protein.
DR Bgee; ENSG00000101842; Expressed in pylorus and 114 other tissues.
DR ExpressionAtlas; Q86XK7; baseline and differential.
DR Genevisible; Q86XK7; HS.
DR GO; GO:0016323; C:basolateral plasma membrane; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0003382; P:epithelial cell morphogenesis; IEA:InterPro.
DR GO; GO:0030277; P:maintenance of gastrointestinal epithelium; IBA:GO_Central.
DR Gene3D; 2.60.40.10; -; 2.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR003598; Ig_sub2.
DR InterPro; IPR013106; Ig_V-set.
DR InterPro; IPR000920; Myelin_P0-rel.
DR InterPro; IPR029861; VSIG1.
DR PANTHER; PTHR44974; PTHR44974; 1.
DR Pfam; PF07686; V-set; 1.
DR PRINTS; PR00213; MYELINP0.
DR SMART; SM00409; IG; 2.
DR SMART; SM00408; IGc2; 2.
DR SMART; SM00406; IGv; 1.
DR SUPFAM; SSF48726; SSF48726; 2.
DR PROSITE; PS50835; IG_LIKE; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Disulfide bond; Glycoprotein; Immunoglobulin domain;
KW Membrane; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..21
FT /evidence="ECO:0000255"
FT CHAIN 22..387
FT /note="V-set and immunoglobulin domain-containing protein
FT 1"
FT /id="PRO_0000313573"
FT TOPO_DOM 22..232
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 233..253
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 254..387
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 22..132
FT /note="Ig-like V-type"
FT DOMAIN 140..227
FT /note="Ig-like C2-type"
FT REGION 266..387
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 323..337
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 344..368
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 32
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 38
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 133
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 200
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 219
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 43..116
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 161..211
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VAR_SEQ 71
FT /note="S -> SHSSCLSTEGMEEKAVSQCLKMTHARDARGRCSWTSE (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045475"
FT VARIANT 147
FT /note="V -> I (in dbSNP:rs17254305)"
FT /id="VAR_049955"
SQ SEQUENCE 387 AA; 41811 MW; F5D39F3B21FF1D0D CRC64;
MVFAFWKVFL ILSCLAGQVS VVQVTIPDGF VNVTVGSNVT LICIYTTTVA SREQLSIQWS
FFHKKEMEPI SIYFSQGGQA VAIGQFKDRI TGSNDPGNAS ITISHMQPAD SGIYICDVNN
PPDFLGQNQG ILNVSVLVKP SKPLCSVQGR PETGHTISLS CLSALGTPSP VYYWHKLEGR
DIVPVKENFN PTTGILVIGN LTNFEQGYYQ CTAINRLGNS SCEIDLTSSH PEVGIIVGAL
IGSLVGAAII ISVVCFARNK AKAKAKERNS KTIAELEPMT KINPRGESEA MPREDATQLE
VTLPSSIHET GPDTIQEPDY EPKPTQEPAP EPAPGSEPMA VPDLDIELEL EPETQSELEP
EPEPEPESEP GVVVEPLSED EKGVVKA
