InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: VWF

Summary

InnateDB Protein

IDBP-13508.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

VWF

Protein Name

von Willebrand factor

Synonyms

F8VWF; VWD;

Species

Homo sapiens

Ensembl Protein

ENSP00000261405

InnateDB Gene

IDBG-13506 (VWF)

Protein Structure

UniProt Annotation

Function

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.

Subcellular Localization

Secreted {ECO:0000269PubMed:10961880}. Secreted, extracellular space, extracellular matrix {ECO:0000269PubMed:10961880}. Note=Localized to storage granules.

Disease Associations

von Willebrand disease 1 (VWD1) [MIM:193400]: A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. {ECO:0000269PubMed:10887119, ECO:0000269PubMed:11698279}. Note=The disease is caused by mutations affecting the gene represented in this entry.von Willebrand disease 2 (VWD2) [MIM:613554]: A hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in altered platelet aggregation. Von Willebrand disease type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. {ECO:0000269PubMed:12406074, ECO:0000269PubMed:1409710, ECO:0000269PubMed:1419803, ECO:0000269PubMed:1419804, ECO:0000269PubMed:1420817, ECO:0000269PubMed:1429668, ECO:0000269PubMed:1672694, ECO:0000269PubMed:1673047, ECO:0000269PubMed:1729889, ECO:0000269PubMed:1761120, ECO:0000269PubMed:1832934, ECO:0000269PubMed:1906179, ECO:0000269PubMed:2010538, ECO:0000269PubMed:2011604, ECO:0000269PubMed:21592258, ECO:0000269PubMed:2786201, ECO:0000269PubMed:7620154, ECO:0000269PubMed:7734373, ECO:0000269PubMed:7789955, ECO:0000269PubMed:8011991, ECO:0000269PubMed:8123843, ECO:0000269PubMed:8123844, ECO:0000269PubMed:8338947, ECO:0000269PubMed:8348943, ECO:0000269PubMed:8376405, ECO:0000269PubMed:8435341, ECO:0000269PubMed:8486782, ECO:0000269PubMed:8547152, ECO:0000269PubMed:8622978}. Note=The disease is caused by mutations affecting the gene represented in this entry.von Willebrand disease 3 (VWD3) [MIM:277480]: A severe hemorrhagic disorder due to a total or near total absence of von Willebrand factor in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, excessive bleeding after minor trauma, and hemarthroses. {ECO:0000269PubMed:10887119, ECO:0000269PubMed:7989040, ECO:0000269PubMed:8088787}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Plasma.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	21 [view]
Protein-Protein	21 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001948	glycoprotein binding
GO:0002020	protease binding
GO:0005178	integrin binding
GO:0005515	protein binding
GO:0005518	collagen binding
GO:0019865	immunoglobulin binding
GO:0042802	identical protein binding
GO:0042803	protein homodimerization activity
GO:0047485	protein N-terminus binding
GO:0051087	chaperone binding

Biological Process

GO:0001889	liver development
GO:0001890	placenta development
GO:0002576	platelet degranulation
GO:0007155	cell adhesion
GO:0007596	blood coagulation
GO:0007597	blood coagulation, intrinsic pathway
GO:0007599	hemostasis
GO:0009611	response to wounding
GO:0030168	platelet activation
GO:0030198	extracellular matrix organization
GO:0031589	cell-substrate adhesion
GO:0051260	protein homooligomerization

Cellular Component

GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix
GO:0005783	endoplasmic reticulum
GO:0009897	external side of plasma membrane
GO:0031012	extracellular matrix
GO:0031091	platelet alpha granule
GO:0031093	platelet alpha granule lumen
GO:0033093	Weibel-Palade body
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR001007 von Willebrand factor, type C
IPR001846 von Willebrand factor, type D domain
IPR002035 von Willebrand factor, type A
IPR002919 Trypsin Inhibitor-like, cysteine rich domain
IPR006207 Cystine knot, C-terminal
IPR006552 VWC out
IPR012011 von Willebrand factor
IPR014853 Uncharacterised domain, cysteine-rich
IPR029034 Cystine-knot cytokine

PFAM

PF00093
PF00094
PF00092
PF01826
PF08742

PRINTS

PIRSF

PIRSF002495

SMART

SM00214
SM00216
SM00327
SM00041
SM00215
SM00832

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt