VWA1

Protein identityUniProt · HPA

UniProt accession

Q6PCB0

Gene

VWA1

Ensembl

ENSG00000179403

Chromosome

1

Canonical length

445 aa

Protein class

Disease related genes, Predicted intracellular proteins, Predicted secreted proteins

Secretome location

Secreted to extracellular matrix

Quaternary structure

Homodimer

OverviewNCBI Gene

VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010]

Canonical amino-acid sequenceUniProt

445 residues, UniProt reviewed canonical sequence.

>Q6PCB0|VWA1
     1  MLPWTALGLA LSLRLALARS GAERGPPASA PRGDLMFLLD SSASVSHYEF SRVREFVGQL
    61  VAPLPLGTGA LRASLVHVGS RPYTEFPFGQ HSSGEAAQDA VRASAQRMGD THTGLALVYA
   121  KEQLFAEASG ARPGVPKVLV WVTDGGSSDP VGPPMQELKD LGVTVFIVST GRGNFLELSA
   181  AASAPAEKHL HFVDVDDLHI IVQELRGSIL DAMRPQQLHA TEITSSGFRL AWPPLLTADS
   241  GYYVLELVPS AQPGAARRQQ LPGNATDWIW AGLDPDTDYD VALVPESNVR LLRPQILRVR
   301  TRPGEAGPGA SGPESGAGPA PTQLAALPAP EEAGPERIVI SHARPRSLRV SWAPALGSAA
   361  ALGYHVQFGP LRGGEAQRVE VPAGRNCTTL QGLAPGTAYL VTVTAAFRSG RESALSAKAC
   421  TPDGPRPRPR PVPRAPTPGT ASREP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VWA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

192 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VWA1.

Disease | AllUniProt

Conditions VWA1 is implicated in, by any mechanism.

• Neuronopathy, hereditary motor, autosomal recessive 7 (HMNR7) MIM:619216

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 191 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neuronopathy, distal hereditary motor, autosomal recessive 7
• Neuromuscular disease
• VWA1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.07

gnomAD pLI

0.01

gnomAD missense Z

-0.15

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• behavioral response to pain
• extracellular matrix organization
• protein homooligomerization

Molecular functions

• microfibril binding
• protein homodimerization activity

Cellular components

• basement membrane
• endoplasmic reticulum lumen
• extracellular exosome
• extracellular matrix
• extracellular space
• interstitial matrix

Protein domainsUniProt · Pfam · InterPro

• von Willebrand factor, type A
• Fibronectin type III
• Immunoglobulin-like fold
• Fibronectin type III superfamily
• von Willebrand factor A-like domain superfamily
• Extracellular Matrix Assembly and Organization
• Fibronectin type III domain
• von Willebrand factor type A domain

KeywordsUniProt

• Basement membrane
• Disulfide bond
• Extracellular matrix
• Glycoprotein
• Neuropathy
• Phosphoprotein
• Repeat
• Secreted
• Signal

InteractionsUniProt · HPA

Protein binding partners of VWA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HSPG2