Entrez Summary: This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015].
UniProt Summary: Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma.
Pfam DomainsGO Terms
Pfam Domains
TIL
VWC
C8
VWD
VWA
GO Terms
immunoglobulin binding
Weibel-Palade body
platelet alpha granule
blood coagulation, intrinsic pathway
protein activation cascade
blood coagulation, fibrin clot formation
collagen binding
platelet alpha granule lumen
chaperone binding
protease binding
protein N-terminus binding
platelet degranulation
integrin binding
extracellular matrix structural constituent
platelet activation
cell-substrate adhesion
blood coagulation
coagulation
hemostasis
protein homooligomerization
extracellular matrix organization
collagen-containing extracellular matrix
extracellular structure organization
wound healing
regulation of body fluid levels
protein complex oligomerization
response to wounding
regulated exocytosis
exocytosis
protein homodimerization activity
cell adhesion
biological adhesion
secretion by cell
endoplasmic reticulum
export from cell
identical protein binding
cell activation
secretion
protein-containing complex assembly
protein-containing complex subunit organization
extracellular region
vesicle-mediated transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
No hits were found.
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 0/739