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Protein

von Willebrand factor A domain-containing protein 1

Gene

VWA1

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

Functioni

Promotes matrix assembly.By similarity

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
von Willebrand factor A domain-containing protein 1
Gene namesi
Name:VWA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:30910. VWA1.

Subcellular locationi

GO - Cellular componenti

  • basement membrane Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • extracellular space Source: UniProtKB
  • interstitial matrix Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Basement membrane, Extracellular matrix, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi64856.
OpenTargetsiENSG00000179403.
PharmGKBiPA142670612.

Polymorphism and mutation databases

BioMutaiVWA1.
DMDMi74749155.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000030715623 – 445von Willebrand factor A domain-containing protein 1Add BLAST423

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei74Phosphoserine; by FAM20C1 Publication1
Modified residuei80Phosphoserine; by FAM20C1 Publication1
Modified residuei83Phosphotyrosine1 Publication1
Modified residuei93Phosphoserine; by FAM20C1 Publication1
Glycosylationi264N-linked (GlcNAc...)Sequence analysis1

Post-translational modificationi

N-glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ6PCB0.
MaxQBiQ6PCB0.
PaxDbiQ6PCB0.
PeptideAtlasiQ6PCB0.
PRIDEiQ6PCB0.

PTM databases

iPTMnetiQ6PCB0.
PhosphoSitePlusiQ6PCB0.

Expressioni

Gene expression databases

BgeeiENSG00000179403.
CleanExiHS_VWA1.
ExpressionAtlasiQ6PCB0. baseline and differential.
GenevisibleiQ6PCB0. HS.

Organism-specific databases

HPAiHPA035382.
HPA035383.

Interactioni

Subunit structurei

Homodimer or homomultimer; disulfide-linked. Interacts with HSPG2.By similarity

Protein-protein interaction databases

BioGridi122329. 14 interactors.
STRINGi9606.ENSP00000417185.

Structurei

3D structure databases

ProteinModelPortaliQ6PCB0.
SMRiQ6PCB0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 213VWFAPROSITE-ProRule annotationAdd BLAST180
Domaini214 – 304Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST91
Domaini334 – 427Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST94

Sequence similaritiesi

Contains 2 fibronectin type-III domains.PROSITE-ProRule annotation
Contains 1 VWFA domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiKOG1217. Eukaryota.
KOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00810000125550.
HOGENOMiHOG000154834.
HOVERGENiHBG097455.
InParanoidiQ6PCB0.
OMAiLMGDTNT.
OrthoDBiEOG091G04UW.
PhylomeDBiQ6PCB0.
TreeFamiTF316402.

Family and domain databases

CDDicd00063. FN3. 2 hits.
Gene3Di2.60.40.10. 2 hits.
3.40.50.410. 1 hit.
InterProiIPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR002035. VWF_A.
[Graphical view]
PfamiPF00041. fn3. 2 hits.
PF00092. VWA. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 2 hits.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
SSF53300. SSF53300. 1 hit.
PROSITEiPS50853. FN3. 2 hits.
PS50234. VWFA. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6PCB0-1) [UniParc]FASTAAdd to basket

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
MLPWTALGLA LSLRLALARS GAERGPPASA PRGDLMFLLD SSASVSHYEF
60 70 80 90 100
SRVREFVGQL VAPLPLGTGA LRASLVHVGS RPYTEFPFGQ HSSGEAAQDA
110 120 130 140 150
VRASAQRMGD THTGLALVYA KEQLFAEASG ARPGVPKVLV WVTDGGSSDP
160 170 180 190 200
VGPPMQELKD LGVTVFIVST GRGNFLELSA AASAPAEKHL HFVDVDDLHI
210 220 230 240 250
IVQELRGSIL DAMRPQQLHA TEITSSGFRL AWPPLLTADS GYYVLELVPS
260 270 280 290 300
AQPGAARRQQ LPGNATDWIW AGLDPDTDYD VALVPESNVR LLRPQILRVR
310 320 330 340 350
TRPGEAGPGA SGPESGAGPA PTQLAALPAP EEAGPERIVI SHARPRSLRV
360 370 380 390 400
SWAPALGSAA ALGYHVQFGP LRGGEAQRVE VPAGRNCTTL QGLAPGTAYL
410 420 430 440
VTVTAAFRSG RESALSAKAC TPDGPRPRPR PVPRAPTPGT ASREP
Length:445
Mass (Da):46,804
Last modified:July 5, 2004 - v1
Checksum:iD9FBDE9C0A4DEBDF
GO
Isoform 2 (identifier: Q6PCB0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-212: Missing.

Show »
Length:233
Mass (Da):24,474
Checksum:iB2CC118FC5B7EC50
GO
Isoform 3 (identifier: Q6PCB0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-64: PPASAPRGDL...EFVGQLVAPL → AQGPGRHRVH...REAPALCGRG
     65-445: Missing.

Note: No experimental confirmation available.
Show »
Length:64
Mass (Da):6,822
Checksum:i2C9B57D0E1D29D6B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9L → Q in BAF84246 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0286171 – 212Missing in isoform 2. 1 PublicationAdd BLAST212
Alternative sequenceiVSP_04665126 – 64PPASA…LVAPL → AQGPGRHRVHCQHRPRQLPG AVSRCLSPCREAPALCGRG in isoform 3. CuratedAdd BLAST39
Alternative sequenceiVSP_04665265 – 445Missing in isoform 3. CuratedAdd BLAST381

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025868 mRNA. Translation: BAB15264.1.
AK096773 mRNA. Translation: BAG53363.1.
AK291557 mRNA. Translation: BAF84246.1.
AL391244 Genomic DNA. Translation: CAI22657.1.
CH471183 Genomic DNA. Translation: EAW56197.1.
CH471183 Genomic DNA. Translation: EAW56198.1.
BC003543 mRNA. Translation: AAH03543.2.
BC059409 mRNA. Translation: AAH59409.1.
CCDSiCCDS27.1. [Q6PCB0-1]
CCDS28.2. [Q6PCB0-3]
RefSeqiNP_073745.2. NM_022834.4. [Q6PCB0-1]
NP_954572.2. NM_199121.2. [Q6PCB0-3]
UniGeneiHs.449009.

Genome annotation databases

EnsembliENST00000338660; ENSP00000423404; ENSG00000179403. [Q6PCB0-3]
ENST00000476993; ENSP00000417185; ENSG00000179403. [Q6PCB0-1]
GeneIDi64856.
KEGGihsa:64856.
UCSCiuc001afr.4. human. [Q6PCB0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025868 mRNA. Translation: BAB15264.1.
AK096773 mRNA. Translation: BAG53363.1.
AK291557 mRNA. Translation: BAF84246.1.
AL391244 Genomic DNA. Translation: CAI22657.1.
CH471183 Genomic DNA. Translation: EAW56197.1.
CH471183 Genomic DNA. Translation: EAW56198.1.
BC003543 mRNA. Translation: AAH03543.2.
BC059409 mRNA. Translation: AAH59409.1.
CCDSiCCDS27.1. [Q6PCB0-1]
CCDS28.2. [Q6PCB0-3]
RefSeqiNP_073745.2. NM_022834.4. [Q6PCB0-1]
NP_954572.2. NM_199121.2. [Q6PCB0-3]
UniGeneiHs.449009.

3D structure databases

ProteinModelPortaliQ6PCB0.
SMRiQ6PCB0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122329. 14 interactors.
STRINGi9606.ENSP00000417185.

PTM databases

iPTMnetiQ6PCB0.
PhosphoSitePlusiQ6PCB0.

Polymorphism and mutation databases

BioMutaiVWA1.
DMDMi74749155.

Proteomic databases

EPDiQ6PCB0.
MaxQBiQ6PCB0.
PaxDbiQ6PCB0.
PeptideAtlasiQ6PCB0.
PRIDEiQ6PCB0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000338660; ENSP00000423404; ENSG00000179403. [Q6PCB0-3]
ENST00000476993; ENSP00000417185; ENSG00000179403. [Q6PCB0-1]
GeneIDi64856.
KEGGihsa:64856.
UCSCiuc001afr.4. human. [Q6PCB0-1]

Organism-specific databases

CTDi64856.
DisGeNETi64856.
GeneCardsiVWA1.
HGNCiHGNC:30910. VWA1.
HPAiHPA035382.
HPA035383.
MIMi611901. gene.
neXtProtiNX_Q6PCB0.
OpenTargetsiENSG00000179403.
PharmGKBiPA142670612.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1217. Eukaryota.
KOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00810000125550.
HOGENOMiHOG000154834.
HOVERGENiHBG097455.
InParanoidiQ6PCB0.
OMAiLMGDTNT.
OrthoDBiEOG091G04UW.
PhylomeDBiQ6PCB0.
TreeFamiTF316402.

Miscellaneous databases

GenomeRNAii64856.
PROiQ6PCB0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179403.
CleanExiHS_VWA1.
ExpressionAtlasiQ6PCB0. baseline and differential.
GenevisibleiQ6PCB0. HS.

Family and domain databases

CDDicd00063. FN3. 2 hits.
Gene3Di2.60.40.10. 2 hits.
3.40.50.410. 1 hit.
InterProiIPR003961. FN3_dom.
IPR013783. Ig-like_fold.
IPR002035. VWF_A.
[Graphical view]
PfamiPF00041. fn3. 2 hits.
PF00092. VWA. 1 hit.
[Graphical view]
SMARTiSM00060. FN3. 2 hits.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF49265. SSF49265. 2 hits.
SSF53300. SSF53300. 1 hit.
PROSITEiPS50853. FN3. 2 hits.
PS50234. VWFA. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiVWA1_HUMAN
AccessioniPrimary (citable) accession number: Q6PCB0
Secondary accession number(s): A8K692
, B3KUA1, E9PB53, Q7L5D7, Q9H6J5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: July 5, 2004
Last modified: November 30, 2016
This is version 118 of the entry and version 1 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 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.