UniProtKB - O00534 (VMA5A_HUMAN)
Protein
von Willebrand factor A domain-containing protein 5A
Gene
VWA5A
Organism
Homo sapiens (Human)
Status
Functioni
May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis.
Enzyme and pathway databases
PathwayCommonsi | O00534 |
Names & Taxonomyi
Protein namesi | Recommended name: von Willebrand factor A domain-containing protein 5AAlternative name(s): Breast cancer suppressor candidate 1 Short name: BCSC-1 Loss of heterozygosity 11 chromosomal region 2 gene A protein |
Gene namesi | Name:VWA5A Synonyms:BCSC1, LOH11CR2A |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6658, VWA5A |
MIMi | 602929, gene |
neXtProti | NX_O00534 |
VEuPathDBi | HostDB:ENSG00000110002.15 |
Pathology & Biotechi
Keywords - Diseasei
Tumor suppressorOrganism-specific databases
DisGeNETi | 4013 |
OpenTargetsi | ENSG00000110002 |
PharmGKBi | PA162409005 |
Miscellaneous databases
Pharosi | O00534, Tbio |
Genetic variation databases
BioMutai | VWA5A |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000084411 | 1 – 786 | von Willebrand factor A domain-containing protein 5AAdd BLAST | 786 |
Proteomic databases
EPDi | O00534 |
jPOSTi | O00534 |
MassIVEi | O00534 |
MaxQBi | O00534 |
PaxDbi | O00534 |
PeptideAtlasi | O00534 |
PRIDEi | O00534 |
ProteomicsDBi | 47959 [O00534-1] 47960 [O00534-2] 47961 [O00534-3] 47962 [O00534-4] |
PTM databases
iPTMneti | O00534 |
PhosphoSitePlusi | O00534 |
Expressioni
Tissue specificityi
Expressed at low level in many tissues. Not expressed in 80% of tumor cell lines tested.1 Publication
Gene expression databases
Bgeei | ENSG00000110002, Expressed in amniotic fluid and 223 other tissues |
ExpressionAtlasi | O00534, baseline and differential |
Genevisiblei | O00534, HS |
Organism-specific databases
HPAi | ENSG00000110002, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsO00534
With | #Exp. | IntAct |
---|---|---|
MEOX2 [Q6FHY5] | 3 | EBI-12246480,EBI-16439278 |
PRTFDC1 [Q9NRG1] | 3 | EBI-12246480,EBI-739759 |
SPSB1 [Q96BD6] | 3 | EBI-12246480,EBI-2659201 |
Protein-protein interaction databases
BioGRIDi | 110197, 42 interactors |
IntActi | O00534, 33 interactors |
STRINGi | 9606.ENSP00000407726 |
Miscellaneous databases
RNActi | O00534, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 1 – 131 | VITPROSITE-ProRule annotationAdd BLAST | 131 | |
Domaini | 281 – 462 | VWFAPROSITE-ProRule annotationAdd BLAST | 182 |
Phylogenomic databases
eggNOGi | ENOG502QRPK, Eukaryota |
GeneTreei | ENSGT00940000159961 |
HOGENOMi | CLU_003826_4_0_1 |
InParanoidi | O00534 |
OMAi | FNVIRFD |
OrthoDBi | 955432at2759 |
PhylomeDBi | O00534 |
TreeFami | TF329720 |
Family and domain databases
Gene3Di | 3.40.50.410, 1 hit |
InterProi | View protein in InterPro IPR013694, VIT IPR002035, VWF_A IPR036465, vWFA_dom_sf |
Pfami | View protein in Pfam PF08487, VIT, 1 hit PF13768, VWA_3, 1 hit |
SMARTi | View protein in SMART SM00609, VIT, 1 hit SM00327, VWA, 1 hit |
SUPFAMi | SSF53300, SSF53300, 1 hit |
PROSITEi | View protein in PROSITE PS51468, VIT, 1 hit PS50234, VWFA, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: O00534-1) [UniParc]FASTAAdd to basket
Also known as: c/f
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVHFCGLLTL HREPVPLKSI SVSVNIYEFV AGVSATLNYE NEEKVPLEAF
60 70 80 90 100
FVFPMDEDSA VYSFEALVDG KKIVAELQDK MKARTNYEKA ISQGHQAFLL
110 120 130 140 150
EGDSSSRDVF SCNVGNLQPG SKAAVTLKYV QELPLEADGA LRFVLPAVLN
160 170 180 190 200
PRYQFSGSSK DSCLNVKTPI VPVEDLPYTL SMVATIDSQH GIEKVQSNCP
210 220 230 240 250
LSPTEYLGED KTSAQVSLAA GHKFDRDVEL LIYYNEVHTP SVVLEMGMPN
260 270 280 290 300
MKPGHLMGDP SAMVSFYPNI PEDQPSNTCG EFIFLMDRSG SMQSPMSSQD
310 320 330 340 350
TSQLRIQAAK ETLILLLKSL PIGCYFNIYG FGSSYEACFP ESVKYTQQTM
360 370 380 390 400
EEALGRVKLM QADLGGTEIL APLQNIYRGP SIPGHPLQLF VFTDGEVTDT
410 420 430 440 450
FSVIKEVRIN RQKHRCFSFG IGEGTSTSLI KGIARASGGT SEFITGKDRM
460 470 480 490 500
QSKALRTLKR SLQPVVEDVS LSWHLPPGLS AKMLSPEQTV IFRGQRLISY
510 520 530 540 550
AQLTGRMPAA ETTGEVCLKY TLQGKTFEDK VTFPLQPKPD VNLTIHRLAA
560 570 580 590 600
KSLLQTKDMG LRETPASDKK DALNLSLESG VISSFTAFIA INKELNKPVQ
610 620 630 640 650
GPLAHRDVPR PILLGASAPL KIKCQSGFRK ALHSDRPPSA SQPRGELMCY
660 670 680 690 700
KAKTFQMDDY SLCGLISHKD QHSPGFGENH LVQLIYHQNA NGSWDLNEDL
710 720 730 740 750
AKILGMSLEE IMAAQPAELV DSSGWATILA VIWLHSNGKD LKCEWELLER
760 770 780
KAVAWMRAHA GSTMPSVVKA AITFLKSSVD PAIFAF
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketB4DHS6 | B4DHS6_HUMAN | cDNA FLJ55206, highly similar to Lo... | VWA5A | 431 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_059692 | 202 | S → G. Corresponds to variant dbSNP:rs35496433Ensembl. | 1 | |
Natural variantiVAR_059693 | 205 | E → K. Corresponds to variant dbSNP:rs35215239Ensembl. | 1 | |
Natural variantiVAR_014193 | 499 | S → I1 PublicationCorresponds to variant dbSNP:rs2276054Ensembl. | 1 | |
Natural variantiVAR_014194 | 506 | R → K1 PublicationCorresponds to variant dbSNP:rs2276053Ensembl. | 1 | |
Natural variantiVAR_014195 | 757 | R → C1 PublicationCorresponds to variant dbSNP:rs117689747Ensembl. | 1 | |
Natural variantiVAR_014196 | 759 | H → R1 PublicationCorresponds to variant dbSNP:rs200614108Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_013364 | 265 – 266 | SF → RT in isoform 4. 1 Publication | 2 | |
Alternative sequenceiVSP_013365 | 267 – 786 | Missing in isoform 4. 1 PublicationAdd BLAST | 520 | |
Alternative sequenceiVSP_013367 | 389 – 426 | LFVFT…GEGTS → VFERPYTLTVLLLHLSPEGN LCVIRPRHSRWTITVSVG in isoform 2. 1 PublicationAdd BLAST | 38 | |
Alternative sequenceiVSP_013366 | 416 – 786 | Missing in isoform 3. 3 PublicationsAdd BLAST | 371 | |
Alternative sequenceiVSP_013368 | 427 – 786 | Missing in isoform 2. 1 PublicationAdd BLAST | 360 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY366505 mRNA Translation: AAQ94873.1 AY366508 mRNA Translation: AAQ94876.1 AY366503 mRNA Translation: AAQ94871.1 AY366506 mRNA Translation: AAQ94874.1 AY366504 mRNA Translation: AAQ94872.1 AY366507 mRNA Translation: AAQ94875.1 AY366501 Genomic DNA Translation: AAQ94867.1 AY366501 Genomic DNA Translation: AAQ94868.1 AY366501 Genomic DNA Translation: AAQ94869.1 BT006655 mRNA Translation: AAP35301.1 BC001234 mRNA Translation: AAH01234.1 AF002672 mRNA Translation: AAB60942.1 |
CCDSi | CCDS8444.1 [O00534-1] CCDS8445.1 [O00534-3] |
RefSeqi | NP_001123614.1, NM_001130142.1 [O00534-1] NP_055437.2, NM_014622.4 [O00534-1] NP_938057.1, NM_198315.2 [O00534-3] |
Genome annotation databases
Ensembli | ENST00000361352; ENSP00000355070; ENSG00000110002 [O00534-3] ENST00000392748; ENSP00000376504; ENSG00000110002 [O00534-1] ENST00000449321; ENSP00000404683; ENSG00000110002 [O00534-3] ENST00000456829; ENSP00000407726; ENSG00000110002 [O00534-1] |
GeneIDi | 4013 |
KEGGi | hsa:4013 |
UCSCi | uc001pzr.4, human [O00534-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AY366505 mRNA Translation: AAQ94873.1 AY366508 mRNA Translation: AAQ94876.1 AY366503 mRNA Translation: AAQ94871.1 AY366506 mRNA Translation: AAQ94874.1 AY366504 mRNA Translation: AAQ94872.1 AY366507 mRNA Translation: AAQ94875.1 AY366501 Genomic DNA Translation: AAQ94867.1 AY366501 Genomic DNA Translation: AAQ94868.1 AY366501 Genomic DNA Translation: AAQ94869.1 BT006655 mRNA Translation: AAP35301.1 BC001234 mRNA Translation: AAH01234.1 AF002672 mRNA Translation: AAB60942.1 |
CCDSi | CCDS8444.1 [O00534-1] CCDS8445.1 [O00534-3] |
RefSeqi | NP_001123614.1, NM_001130142.1 [O00534-1] NP_055437.2, NM_014622.4 [O00534-1] NP_938057.1, NM_198315.2 [O00534-3] |
3D structure databases
SMRi | O00534 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110197, 42 interactors |
IntActi | O00534, 33 interactors |
STRINGi | 9606.ENSP00000407726 |
PTM databases
iPTMneti | O00534 |
PhosphoSitePlusi | O00534 |
Genetic variation databases
BioMutai | VWA5A |
Proteomic databases
EPDi | O00534 |
jPOSTi | O00534 |
MassIVEi | O00534 |
MaxQBi | O00534 |
PaxDbi | O00534 |
PeptideAtlasi | O00534 |
PRIDEi | O00534 |
ProteomicsDBi | 47959 [O00534-1] 47960 [O00534-2] 47961 [O00534-3] 47962 [O00534-4] |
Protocols and materials databases
Antibodypediai | 32857, 345 antibodies |
DNASUi | 4013 |
Genome annotation databases
Ensembli | ENST00000361352; ENSP00000355070; ENSG00000110002 [O00534-3] ENST00000392748; ENSP00000376504; ENSG00000110002 [O00534-1] ENST00000449321; ENSP00000404683; ENSG00000110002 [O00534-3] ENST00000456829; ENSP00000407726; ENSG00000110002 [O00534-1] |
GeneIDi | 4013 |
KEGGi | hsa:4013 |
UCSCi | uc001pzr.4, human [O00534-1] |
Organism-specific databases
CTDi | 4013 |
DisGeNETi | 4013 |
GeneCardsi | VWA5A |
HGNCi | HGNC:6658, VWA5A |
HPAi | ENSG00000110002, Low tissue specificity |
MIMi | 602929, gene |
neXtProti | NX_O00534 |
OpenTargetsi | ENSG00000110002 |
PharmGKBi | PA162409005 |
VEuPathDBi | HostDB:ENSG00000110002.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QRPK, Eukaryota |
GeneTreei | ENSGT00940000159961 |
HOGENOMi | CLU_003826_4_0_1 |
InParanoidi | O00534 |
OMAi | FNVIRFD |
OrthoDBi | 955432at2759 |
PhylomeDBi | O00534 |
TreeFami | TF329720 |
Enzyme and pathway databases
PathwayCommonsi | O00534 |
Miscellaneous databases
BioGRID-ORCSi | 4013, 2 hits in 1001 CRISPR screens |
ChiTaRSi | VWA5A, human |
GenomeRNAii | 4013 |
Pharosi | O00534, Tbio |
PROi | PR:O00534 |
RNActi | O00534, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000110002, Expressed in amniotic fluid and 223 other tissues |
ExpressionAtlasi | O00534, baseline and differential |
Genevisiblei | O00534, HS |
Family and domain databases
Gene3Di | 3.40.50.410, 1 hit |
InterProi | View protein in InterPro IPR013694, VIT IPR002035, VWF_A IPR036465, vWFA_dom_sf |
Pfami | View protein in Pfam PF08487, VIT, 1 hit PF13768, VWA_3, 1 hit |
SMARTi | View protein in SMART SM00609, VIT, 1 hit SM00327, VWA, 1 hit |
SUPFAMi | SSF53300, SSF53300, 1 hit |
PROSITEi | View protein in PROSITE PS51468, VIT, 1 hit PS50234, VWFA, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | VMA5A_HUMAN | |
Accessioni | O00534Primary (citable) accession number: O00534 Secondary accession number(s): Q6UN19, Q6UN20, Q9BVF8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 19, 2002 |
Last sequence update: | April 12, 2005 | |
Last modified: | April 7, 2021 | |
This is version 150 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot