VMA5A_HUMAN
ID VMA5A_HUMAN Reviewed; 786 AA.
AC O00534; Q6UN19; Q6UN20; Q9BVF8;
DT 19-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 12-APR-2005, sequence version 2.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=von Willebrand factor A domain-containing protein 5A;
DE AltName: Full=Breast cancer suppressor candidate 1;
DE Short=BCSC-1;
DE AltName: Full=Loss of heterozygosity 11 chromosomal region 2 gene A protein;
GN Name=VWA5A; Synonyms=BCSC1, LOH11CR2A;
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] (ISOFORMS 1; 2; 3 AND 4), POSSIBLE FUNCTION, AND
RP TISSUE SPECIFICITY.
RX PubMed=14504409; DOI=10.1073/pnas.1934602100;
RA Martin E.S., Cesari R., Pentimalli F., Yoder K., Fishel R.,
RA Himelstein A.L., Martin S.E., Godwin A.K., Negrini M., Croce C.M.;
RT "The BCSC-1 locus at chromosome 11q23-q24 is a candidate tumor suppressor
RT gene.";
RL Proc. Natl. Acad. Sci. U.S.A. 100:11517-11522(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Cervix;
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 [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 350-786 (ISOFORM 1), AND VARIANTS ILE-499;
RP LYS-506; CYS-757 AND ARG-759.
RX PubMed=9417908; DOI=10.1006/geno.1997.5036;
RA Monaco C., Negrini M., Sozzi G., Veronese M.L., Vorechovsky I.,
RA Godwin A.K., Croce C.M.;
RT "Molecular cloning and characterization of LOH11CR2A, a new gene within a
RT refined minimal region of LOH at 11q23.";
RL Genomics 46:217-222(1997).
CC -!- FUNCTION: May play a role in tumorigenesis as a tumor suppressor.
CC Altered expression of this protein and disruption of the molecular
CC pathway it is involved in, may contribute directly to or modify
CC tumorigenesis.
CC -!- INTERACTION:
CC O00534; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12246480, EBI-16439278;
CC O00534; Q9NRG1: PRTFDC1; NbExp=3; IntAct=EBI-12246480, EBI-739759;
CC O00534; Q96BD6: SPSB1; NbExp=3; IntAct=EBI-12246480, EBI-2659201;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1; Synonyms=c/f;
CC IsoId=O00534-1; Sequence=Displayed;
CC Name=2; Synonyms=g;
CC IsoId=O00534-2; Sequence=VSP_013367, VSP_013368;
CC Name=3; Synonyms=a/d;
CC IsoId=O00534-3; Sequence=VSP_013366;
CC Name=4; Synonyms=b/e;
CC IsoId=O00534-4; Sequence=VSP_013364, VSP_013365;
CC -!- TISSUE SPECIFICITY: Expressed at low level in many tissues. Not
CC expressed in 80% of tumor cell lines tested.
CC {ECO:0000269|PubMed:14504409}.
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DR EMBL; AY366505; AAQ94873.1; -; mRNA.
DR EMBL; AY366508; AAQ94876.1; -; mRNA.
DR EMBL; AY366503; AAQ94871.1; -; mRNA.
DR EMBL; AY366506; AAQ94874.1; -; mRNA.
DR EMBL; AY366504; AAQ94872.1; -; mRNA.
DR EMBL; AY366507; AAQ94875.1; -; mRNA.
DR EMBL; AY366501; AAQ94867.1; -; Genomic_DNA.
DR EMBL; AY366501; AAQ94868.1; -; Genomic_DNA.
DR EMBL; AY366501; AAQ94869.1; -; Genomic_DNA.
DR EMBL; BT006655; AAP35301.1; -; mRNA.
DR EMBL; BC001234; AAH01234.1; -; mRNA.
DR EMBL; AF002672; AAB60942.1; -; mRNA.
DR CCDS; CCDS8444.1; -. [O00534-1]
DR CCDS; CCDS8445.1; -. [O00534-3]
DR RefSeq; NP_001123614.1; NM_001130142.1. [O00534-1]
DR RefSeq; NP_055437.2; NM_014622.4. [O00534-1]
DR RefSeq; NP_938057.1; NM_198315.2. [O00534-3]
DR AlphaFoldDB; O00534; -.
DR SMR; O00534; -.
DR BioGRID; 110197; 48.
DR IntAct; O00534; 33.
DR STRING; 9606.ENSP00000407726; -.
DR iPTMnet; O00534; -.
DR PhosphoSitePlus; O00534; -.
DR BioMuta; VWA5A; -.
DR EPD; O00534; -.
DR jPOST; O00534; -.
DR MassIVE; O00534; -.
DR MaxQB; O00534; -.
DR PaxDb; O00534; -.
DR PeptideAtlas; O00534; -.
DR PRIDE; O00534; -.
DR ProteomicsDB; 47959; -. [O00534-1]
DR ProteomicsDB; 47960; -. [O00534-2]
DR ProteomicsDB; 47961; -. [O00534-3]
DR ProteomicsDB; 47962; -. [O00534-4]
DR Antibodypedia; 32857; 377 antibodies from 26 providers.
DR DNASU; 4013; -.
DR Ensembl; ENST00000361352.9; ENSP00000355070.5; ENSG00000110002.16. [O00534-3]
DR Ensembl; ENST00000392748.5; ENSP00000376504.1; ENSG00000110002.16. [O00534-1]
DR Ensembl; ENST00000449321.5; ENSP00000404683.1; ENSG00000110002.16. [O00534-3]
DR Ensembl; ENST00000456829.7; ENSP00000407726.2; ENSG00000110002.16. [O00534-1]
DR GeneID; 4013; -.
DR KEGG; hsa:4013; -.
DR MANE-Select; ENST00000456829.7; ENSP00000407726.2; NM_001130142.2; NP_001123614.1.
DR UCSC; uc001pzr.4; human. [O00534-1]
DR CTD; 4013; -.
DR DisGeNET; 4013; -.
DR GeneCards; VWA5A; -.
DR HGNC; HGNC:6658; VWA5A.
DR HPA; ENSG00000110002; Low tissue specificity.
DR MIM; 602929; gene.
DR neXtProt; NX_O00534; -.
DR OpenTargets; ENSG00000110002; -.
DR PharmGKB; PA162409005; -.
DR VEuPathDB; HostDB:ENSG00000110002; -.
DR eggNOG; ENOG502QRPK; Eukaryota.
DR GeneTree; ENSGT00940000159961; -.
DR HOGENOM; CLU_003826_4_0_1; -.
DR InParanoid; O00534; -.
DR OMA; FNVIRFD; -.
DR OrthoDB; 955432at2759; -.
DR PhylomeDB; O00534; -.
DR TreeFam; TF329720; -.
DR PathwayCommons; O00534; -.
DR SignaLink; O00534; -.
DR BioGRID-ORCS; 4013; 3 hits in 1081 CRISPR screens.
DR ChiTaRS; VWA5A; human.
DR GenomeRNAi; 4013; -.
DR Pharos; O00534; Tbio.
DR PRO; PR:O00534; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; O00534; protein.
DR Bgee; ENSG00000110002; Expressed in islet of Langerhans and 189 other tissues.
DR ExpressionAtlas; O00534; baseline and differential.
DR Genevisible; O00534; HS.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR Gene3D; 3.40.50.410; -; 1.
DR InterPro; IPR013694; VIT.
DR InterPro; IPR002035; VWF_A.
DR InterPro; IPR036465; vWFA_dom_sf.
DR Pfam; PF08487; VIT; 1.
DR Pfam; PF13768; VWA_3; 1.
DR SMART; SM00609; VIT; 1.
DR SMART; SM00327; VWA; 1.
DR SUPFAM; SSF53300; SSF53300; 1.
DR PROSITE; PS51468; VIT; 1.
DR PROSITE; PS50234; VWFA; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome; Tumor suppressor.
FT CHAIN 1..786
FT /note="von Willebrand factor A domain-containing protein
FT 5A"
FT /id="PRO_0000084411"
FT DOMAIN 1..131
FT /note="VIT"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00801"
FT DOMAIN 281..462
FT /note="VWFA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00219"
FT VAR_SEQ 265..266
FT /note="SF -> RT (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14504409"
FT /id="VSP_013364"
FT VAR_SEQ 267..786
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14504409"
FT /id="VSP_013365"
FT VAR_SEQ 389..426
FT /note="LFVFTDGEVTDTFSVIKEVRINRQKHRCFSFGIGEGTS -> VFERPYTLTV
FT LLLHLSPEGNLCVIRPRHSRWTITVSVG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14504409"
FT /id="VSP_013367"
FT VAR_SEQ 416..786
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14504409,
FT ECO:0000303|PubMed:15489334, ECO:0000303|Ref.2"
FT /id="VSP_013366"
FT VAR_SEQ 427..786
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14504409"
FT /id="VSP_013368"
FT VARIANT 202
FT /note="S -> G (in dbSNP:rs35496433)"
FT /id="VAR_059692"
FT VARIANT 205
FT /note="E -> K (in dbSNP:rs35215239)"
FT /id="VAR_059693"
FT VARIANT 499
FT /note="S -> I (in dbSNP:rs2276054)"
FT /evidence="ECO:0000269|PubMed:9417908"
FT /id="VAR_014193"
FT VARIANT 506
FT /note="R -> K (in dbSNP:rs2276053)"
FT /evidence="ECO:0000269|PubMed:9417908"
FT /id="VAR_014194"
FT VARIANT 757
FT /note="R -> C (in dbSNP:rs117689747)"
FT /evidence="ECO:0000269|PubMed:9417908"
FT /id="VAR_014195"
FT VARIANT 759
FT /note="H -> R (in dbSNP:rs200614108)"
FT /evidence="ECO:0000269|PubMed:9417908"
FT /id="VAR_014196"
SQ SEQUENCE 786 AA; 86489 MW; 4CCD27B4B6DD9BD0 CRC64;
MVHFCGLLTL HREPVPLKSI SVSVNIYEFV AGVSATLNYE NEEKVPLEAF FVFPMDEDSA
VYSFEALVDG KKIVAELQDK MKARTNYEKA ISQGHQAFLL EGDSSSRDVF SCNVGNLQPG
SKAAVTLKYV QELPLEADGA LRFVLPAVLN PRYQFSGSSK DSCLNVKTPI VPVEDLPYTL
SMVATIDSQH GIEKVQSNCP LSPTEYLGED KTSAQVSLAA GHKFDRDVEL LIYYNEVHTP
SVVLEMGMPN MKPGHLMGDP SAMVSFYPNI PEDQPSNTCG EFIFLMDRSG SMQSPMSSQD
TSQLRIQAAK ETLILLLKSL PIGCYFNIYG FGSSYEACFP ESVKYTQQTM EEALGRVKLM
QADLGGTEIL APLQNIYRGP SIPGHPLQLF VFTDGEVTDT FSVIKEVRIN RQKHRCFSFG
IGEGTSTSLI KGIARASGGT SEFITGKDRM QSKALRTLKR SLQPVVEDVS LSWHLPPGLS
AKMLSPEQTV IFRGQRLISY AQLTGRMPAA ETTGEVCLKY TLQGKTFEDK VTFPLQPKPD
VNLTIHRLAA KSLLQTKDMG LRETPASDKK DALNLSLESG VISSFTAFIA INKELNKPVQ
GPLAHRDVPR PILLGASAPL KIKCQSGFRK ALHSDRPPSA SQPRGELMCY KAKTFQMDDY
SLCGLISHKD QHSPGFGENH LVQLIYHQNA NGSWDLNEDL AKILGMSLEE IMAAQPAELV
DSSGWATILA VIWLHSNGKD LKCEWELLER KAVAWMRAHA GSTMPSVVKA AITFLKSSVD
PAIFAF
