VS10L_HUMAN
ID VS10L_HUMAN Reviewed; 867 AA.
AC Q86VR7;
DT 15-JUN-2010, integrated into UniProtKB/Swiss-Prot.
DT 15-JUN-2010, sequence version 2.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=V-set and immunoglobulin domain-containing protein 10-like;
DE Short=VSIG10-like protein;
DE Flags: Precursor;
GN Name=VSIG10L;
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 GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 446-867 (ISOFORM 2), AND VARIANT
RP GLN-592.
RC TISSUE=Brain;
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 [3]
RP TISSUE SPECIFICITY, AND VARIANTS GLY-631 AND SER-769.
RX PubMed=27467440; DOI=10.1001/jamaoncol.2016.2054;
RA Fecteau R.E., Kong J., Kresak A., Brock W., Song Y., Fujioka H., Elston R.,
RA Willis J.E., Lynch J.P., Markowitz S.D., Guda K., Chak A.;
RT "Association between germline mutation in VSIG10L and familial Barrett
RT neoplasia.";
RL JAMA Oncol. 2:1333-1339(2016).
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=Q86VR7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86VR7-2; Sequence=VSP_039374;
CC -!- TISSUE SPECIFICITY: Expressed in the esophagus, particularly in the
CC suprabasilar layers of the epithelium. Expression is largely reduced in
CC esophageal metaplasia, dysplasia, and adenocarcinoma lesions.
CC {ECO:0000269|PubMed:27467440}.
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DR EMBL; AC008750; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC049212; AAH49212.1; -; mRNA.
DR CCDS; CCDS54300.1; -. [Q86VR7-1]
DR RefSeq; NP_001157394.1; NM_001163922.1. [Q86VR7-1]
DR AlphaFoldDB; Q86VR7; -.
DR BioGRID; 127065; 3.
DR IntAct; Q86VR7; 1.
DR MINT; Q86VR7; -.
DR STRING; 9606.ENSP00000335623; -.
DR GlyGen; Q86VR7; 10 sites, 1 O-linked glycan (2 sites).
DR iPTMnet; Q86VR7; -.
DR PhosphoSitePlus; Q86VR7; -.
DR BioMuta; VSIG10L; -.
DR DMDM; 298352661; -.
DR EPD; Q86VR7; -.
DR jPOST; Q86VR7; -.
DR MassIVE; Q86VR7; -.
DR PaxDb; Q86VR7; -.
DR PeptideAtlas; Q86VR7; -.
DR PRIDE; Q86VR7; -.
DR ProteomicsDB; 70061; -. [Q86VR7-1]
DR ProteomicsDB; 70062; -. [Q86VR7-2]
DR Antibodypedia; 71769; 8 antibodies from 4 providers.
DR DNASU; 147645; -.
DR Ensembl; ENST00000335624.5; ENSP00000335623.3; ENSG00000186806.6. [Q86VR7-1]
DR GeneID; 147645; -.
DR KEGG; hsa:147645; -.
DR MANE-Select; ENST00000335624.5; ENSP00000335623.3; NM_001163922.3; NP_001157394.1.
DR UCSC; uc002pwf.4; human. [Q86VR7-1]
DR CTD; 147645; -.
DR DisGeNET; 147645; -.
DR GeneCards; VSIG10L; -.
DR HGNC; HGNC:27111; VSIG10L.
DR HPA; ENSG00000186806; Tissue enhanced (esophagus, salivary gland, vagina).
DR MIM; 617740; gene.
DR neXtProt; NX_Q86VR7; -.
DR OpenTargets; ENSG00000186806; -.
DR PharmGKB; PA165394673; -.
DR VEuPathDB; HostDB:ENSG00000186806; -.
DR eggNOG; ENOG502QWIT; Eukaryota.
DR GeneTree; ENSGT00940000162314; -.
DR HOGENOM; CLU_015581_0_0_1; -.
DR InParanoid; Q86VR7; -.
DR OMA; MSGSFWS; -.
DR OrthoDB; 765840at2759; -.
DR PhylomeDB; Q86VR7; -.
DR TreeFam; TF334050; -.
DR PathwayCommons; Q86VR7; -.
DR SignaLink; Q86VR7; -.
DR BioGRID-ORCS; 147645; 9 hits in 1076 CRISPR screens.
DR GenomeRNAi; 147645; -.
DR Pharos; Q86VR7; Tdark.
DR PRO; PR:Q86VR7; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q86VR7; protein.
DR Bgee; ENSG00000186806; Expressed in lower esophagus mucosa and 121 other tissues.
DR Genevisible; Q86VR7; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR Gene3D; 2.60.40.10; -; 3.
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 Pfam; PF13895; Ig_2; 1.
DR SMART; SM00409; IG; 3.
DR SMART; SM00408; IGc2; 2.
DR SUPFAM; SSF48726; SSF48726; 3.
DR PROSITE; PS50835; IG_LIKE; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Disulfide bond; Glycoprotein; Immunoglobulin domain;
KW Membrane; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..27
FT /evidence="ECO:0000255"
FT CHAIN 28..867
FT /note="V-set and immunoglobulin domain-containing protein
FT 10-like"
FT /id="PRO_0000395117"
FT TOPO_DOM 28..776
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 777..797
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 798..867
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 302..394
FT /note="Ig-like C2-type 1"
FT DOMAIN 402..487
FT /note="Ig-like C2-type 2"
FT REGION 35..60
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 104..186
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 602..627
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 35..50
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 137..157
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 32
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 88
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 96
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 144
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 423
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 487
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 641
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 650
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 324..378
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 428..471
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VAR_SEQ 860..867
FT /note="QTPVQLSL -> TDPSSVVSVGGGSKTVRAATQV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_039374"
FT VARIANT 3
FT /note="N -> T (in dbSNP:rs10414211)"
FT /id="VAR_063282"
FT VARIANT 356
FT /note="M -> I (in dbSNP:rs7259266)"
FT /id="VAR_063283"
FT VARIANT 592
FT /note="R -> Q (in dbSNP:rs34380065)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_063284"
FT VARIANT 627
FT /note="R -> H (in dbSNP:rs57710066)"
FT /id="VAR_063285"
FT VARIANT 631
FT /note="S -> G (found in a family with Barrett esophagus and
FT esophageal adenocarcinoma; unknown pathological
FT significance; dbSNP:rs1263178238)"
FT /evidence="ECO:0000269|PubMed:27467440"
FT /id="VAR_080077"
FT VARIANT 769
FT /note="G -> S (found in esophageal adenocarcinoma; somatic
FT mutation; unknown pathological significance;
FT dbSNP:rs377207472)"
FT /evidence="ECO:0000269|PubMed:27467440"
FT /id="VAR_080078"
SQ SEQUENCE 867 AA; 91625 MW; 422D87D82E44E597 CRC64;
MDNPQALPLF LLLASLVGIL TLRASSGLQQ TNFSSAFSSD SKSSSQGLGV EVPSIKPPSW
KVPDQFLDSK ASAGISDSSW FPEALSSNMS GSFWSNVSAE GQDLSPVSPF SETPGSEVFP
DISDPQVPAK DPKPSFTVKT PASNISTQVS HTKLSVEAPD SKFSPDDMDL KLSAQSPESK
FSAETHSAAS FPQQVGGPLA VLVGTTIRLP LVPIPNPGPP TSLVVWRRGS KVLAAGGLGP
GAPLISLDPA HRDHLRFDQA RGVLELASAQ LDDAGVYTAE VIRAGVSQQT HEFTVGVYEP
LPQLSVQPKA PETEEGAAEL RLRCLGWGPG RGELSWSRDG RALEAAESEG AETPRMRSEG
DQLLIVRPVR SDHARYTCRV RSPFGHREAA ADVSVFYGPD PPTITVSSDR DAAPARFVTA
GSNVTLRCAA ASRPPADITW SLADPAEAAV PAGSRLLLPA VGPGHAGTYA CLAANPRTGR
RRRSLLNLTV ADLPPGAPQC SVEGGPGDRS LRFRCSWPGG APAASLQFQG LPEGIRAGPV
SSVLLAAVPA HPRLSGVPIT CLARHLVATR TCTVTPEAPR EVLLHPLVAE TRLGEAEVAL
EASGCPPPSR ASWAREGRPL APGGGSRLRL SQDGRKLHIG NFSLDWDLGN YSVLCSGALG
AGGDQITLIG PSISSWRLQR ARDAAVLTWD VERGALISSF EIQAWPDGPA LGRTSTYRDW
VSLLILGPQE RSAVVPLPPR NPGTWTFRIL PILGGQPGTP SQSRVYRAGP TLSHGAIAGI
VLGSLLGLAL LAVLLLLCIC CLCRFRGKTP EKKKHPSTLV PVVTPSEKKM HSVTPVEISW
PLDLKVPLED HSSTRAYQAQ TPVQLSL
