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Protein

von Willebrand factor A domain-containing protein 5A

Gene

VWA5A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

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

BioCyciZFISH:ENSG00000110002-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
von Willebrand factor A domain-containing protein 5A
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:6658. VWA5A.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNETi4013.
OpenTargetsiENSG00000110002.
PharmGKBiPA162409005.

Polymorphism and mutation databases

BioMutaiVWA5A.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000844111 – 786von Willebrand factor A domain-containing protein 5AAdd BLAST786

Proteomic databases

MaxQBiO00534.
PaxDbiO00534.
PeptideAtlasiO00534.
PRIDEiO00534.

PTM databases

iPTMnetiO00534.
PhosphoSitePlusiO00534.

Expressioni

Tissue specificityi

Expressed at low level in many tissues. Not expressed in 80% of tumor cell lines tested.1 Publication

Gene expression databases

BgeeiENSG00000110002.
CleanExiHS_VWA5A.
ExpressionAtlasiO00534. baseline and differential.
GenevisibleiO00534. HS.

Organism-specific databases

HPAiHPA037813.
HPA037814.
HPA061500.

Interactioni

Protein-protein interaction databases

BioGridi110197. 33 interactors.
IntActiO00534. 2 interactors.
STRINGi9606.ENSP00000376504.

Structurei

3D structure databases

ProteinModelPortaliO00534.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 131VITPROSITE-ProRule annotationAdd BLAST131
Domaini281 – 462VWFAPROSITE-ProRule annotationAdd BLAST182

Sequence similaritiesi

Contains 1 VIT domain.PROSITE-ProRule annotation
Contains 1 VWFA domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IG85. Eukaryota.
COG2304. LUCA.
GeneTreeiENSGT00530000063006.
HOGENOMiHOG000006838.
InParanoidiO00534.
OMAiHEEYDDA.
OrthoDBiEOG091G03Q4.
PhylomeDBiO00534.
TreeFamiTF329720.

Family and domain databases

Gene3Di3.40.50.410. 1 hit.
InterProiIPR013694. VIT.
IPR002035. VWF_A.
[Graphical view]
PfamiPF08487. VIT. 1 hit.
PF13768. VWA_3. 1 hit.
[Graphical view]
SMARTiSM00609. VIT. 1 hit.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 1 hit.
PROSITEiPS51468. VIT. 1 hit.
PS50234. VWFA. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O00534-1) [UniParc]FASTAAdd to basket
Also known as: c/f

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:786
Mass (Da):86,489
Last modified:April 12, 2005 - v2
Checksum:i4CCD27B4B6DD9BD0
GO
Isoform 2 (identifier: O00534-2) [UniParc]FASTAAdd to basket
Also known as: g

The sequence of this isoform differs from the canonical sequence as follows:
     389-426: LFVFTDGEVT...FSFGIGEGTS → VFERPYTLTV...SRWTITVSVG
     427-786: Missing.

Show »
Length:426
Mass (Da):47,049
Checksum:i47E0EC99F668DDC3
GO
Isoform 3 (identifier: O00534-3) [UniParc]FASTAAdd to basket
Also known as: a/d

The sequence of this isoform differs from the canonical sequence as follows:
     416-786: Missing.

Show »
Length:415
Mass (Da):45,923
Checksum:iEAD8C09FD28D4016
GO
Isoform 4 (identifier: O00534-4) [UniParc]FASTAAdd to basket
Also known as: b/e

The sequence of this isoform differs from the canonical sequence as follows:
     265-266: SF → RT
     267-786: Missing.

Show »
Length:266
Mass (Da):29,235
Checksum:i7E3655E339FCF6D5
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_059692202S → G.Corresponds to variant rs35496433dbSNPEnsembl.1
Natural variantiVAR_059693205E → K.Corresponds to variant rs35215239dbSNPEnsembl.1
Natural variantiVAR_014193499S → I.1 PublicationCorresponds to variant rs2276054dbSNPEnsembl.1
Natural variantiVAR_014194506R → K.1 PublicationCorresponds to variant rs2276053dbSNPEnsembl.1
Natural variantiVAR_014195757R → C.1 PublicationCorresponds to variant rs117689747dbSNPEnsembl.1
Natural variantiVAR_014196759H → R.1 PublicationCorresponds to variant rs200614108dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_013364265 – 266SF → RT in isoform 4. 1 Publication2
Alternative sequenceiVSP_013365267 – 786Missing in isoform 4. 1 PublicationAdd BLAST520
Alternative sequenceiVSP_013367389 – 426LFVFT…GEGTS → VFERPYTLTVLLLHLSPEGN LCVIRPRHSRWTITVSVG in isoform 2. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_013366416 – 786Missing in isoform 3. 3 PublicationsAdd BLAST371
Alternative sequenceiVSP_013368427 – 786Missing in isoform 2. 1 PublicationAdd BLAST360

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.
CCDSiCCDS8444.1. [O00534-1]
CCDS8445.1. [O00534-3]
RefSeqiNP_001123614.1. NM_001130142.1. [O00534-1]
NP_055437.2. NM_014622.4. [O00534-1]
NP_938057.1. NM_198315.2. [O00534-3]
UniGeneiHs.152944.

Genome annotation databases

EnsembliENST00000361352; ENSP00000355070; ENSG00000110002. [O00534-3]
ENST00000392748; ENSP00000376504; ENSG00000110002. [O00534-1]
ENST00000449321; ENSP00000404683; ENSG00000110002. [O00534-3]
ENST00000456829; ENSP00000407726; ENSG00000110002. [O00534-1]
GeneIDi4013.
KEGGihsa:4013.
UCSCiuc001pzr.4. human. [O00534-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS8444.1. [O00534-1]
CCDS8445.1. [O00534-3]
RefSeqiNP_001123614.1. NM_001130142.1. [O00534-1]
NP_055437.2. NM_014622.4. [O00534-1]
NP_938057.1. NM_198315.2. [O00534-3]
UniGeneiHs.152944.

3D structure databases

ProteinModelPortaliO00534.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110197. 33 interactors.
IntActiO00534. 2 interactors.
STRINGi9606.ENSP00000376504.

PTM databases

iPTMnetiO00534.
PhosphoSitePlusiO00534.

Polymorphism and mutation databases

BioMutaiVWA5A.

Proteomic databases

MaxQBiO00534.
PaxDbiO00534.
PeptideAtlasiO00534.
PRIDEiO00534.

Protocols and materials databases

DNASUi4013.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361352; ENSP00000355070; ENSG00000110002. [O00534-3]
ENST00000392748; ENSP00000376504; ENSG00000110002. [O00534-1]
ENST00000449321; ENSP00000404683; ENSG00000110002. [O00534-3]
ENST00000456829; ENSP00000407726; ENSG00000110002. [O00534-1]
GeneIDi4013.
KEGGihsa:4013.
UCSCiuc001pzr.4. human. [O00534-1]

Organism-specific databases

CTDi4013.
DisGeNETi4013.
GeneCardsiVWA5A.
HGNCiHGNC:6658. VWA5A.
HPAiHPA037813.
HPA037814.
HPA061500.
MIMi602929. gene.
neXtProtiNX_O00534.
OpenTargetsiENSG00000110002.
PharmGKBiPA162409005.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG85. Eukaryota.
COG2304. LUCA.
GeneTreeiENSGT00530000063006.
HOGENOMiHOG000006838.
InParanoidiO00534.
OMAiHEEYDDA.
OrthoDBiEOG091G03Q4.
PhylomeDBiO00534.
TreeFamiTF329720.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000110002-MONOMER.

Miscellaneous databases

GenomeRNAii4013.
PROiO00534.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000110002.
CleanExiHS_VWA5A.
ExpressionAtlasiO00534. baseline and differential.
GenevisibleiO00534. HS.

Family and domain databases

Gene3Di3.40.50.410. 1 hit.
InterProiIPR013694. VIT.
IPR002035. VWF_A.
[Graphical view]
PfamiPF08487. VIT. 1 hit.
PF13768. VWA_3. 1 hit.
[Graphical view]
SMARTiSM00609. VIT. 1 hit.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 1 hit.
PROSITEiPS51468. VIT. 1 hit.
PS50234. VWFA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiVMA5A_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 118 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.