Version 5.4
Homo sapiens Gene: VWF
Summary
InnateDB Gene IDBG-13506.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol VWF
Gene Name von Willebrand factor
Synonyms F8VWF; VWD
Species Homo sapiens
Ensembl Gene ENSG00000110799
Encoded Proteins
IDBP-13508
von Willebrand factor
IDBP-717750
IDBP-718127
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The glycoprotein encoded by this gene functions as both an antihemophilic factor carrier and a platelet-vessel wall mediator in the blood coagulation system. It is crucial to the hemostasis process. Mutations in this gene or deficiencies in this protein result in von Willebrand's disease. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]
The glycoprotein encoded by this gene functions as both an antihemophilic factor carrier and a platelet-vessel wall mediator in the blood coagulation system. It is crucial to the hemostasis process. Mutations in this gene or deficiencies in this protein result in von Willebrand\'s disease. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:5948874-6124770
Strand Reverse strand
Band p13.31
Transcripts
ENST00000261405 ENSP00000261405
ENST00000321023 ENSP00000461331
ENST00000538635
ENST00000539641
ENST00000538563 ENSP00000459134
ENST00000545906
ENST00000540192
ENST00000612016
ENST00000621700
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000001930
View Gene Order
ENSBTAG00000012265
Not yet available
Pathways
NETPATH
REACTOME
REACT_1230
Platelet Adhesion to exposed collagen pathway
REACT_326
Intrinsic Pathway pathway
REACT_23847
GP1b-IX-V activation signalling pathway
REACT_15443
GRB2:SOS provides linkage to MAPK signaling for Integrins pathway
REACT_15381
p130Cas linkage to MAPK signaling for integrins pathway
REACT_15523
Integrin alphaIIb beta3 signaling pathway
REACT_278
Platelet Aggregation (Plug Formation) pathway
REACT_318
Platelet degranulation pathway
REACT_1280
Response to elevated platelet cytosolic Ca2+ pathway
REACT_13552
Integrin cell surface interactions pathway
REACT_118779
Extracellular matrix organization pathway
REACT_2051
Formation of Fibrin Clot (Clotting Cascade) pathway
REACT_798
Platelet activation, signaling and aggregation pathway
REACT_111102
Signal Transduction pathway
REACT_604
Hemostasis pathway
KEGG
hsa04610
Complement and coagulation cascades pathway
hsa04512
ECM-receptor interaction pathway
hsa04510
Focal adhesion pathway
INOH
PID NCI
Cross-References
SwissProt P04275
TrEMBL H2DLA2 I3L4K4
UniProt Splice Variant
Entrez Gene 7450
UniGene Hs.440848
RefSeq NM_000552
HUGO HGNC:12726
OMIM 613160
CCDS CCDS8539
HPRD
IMGT
EMBL AC005845 AC005846 AC005904 JN625247 K03028 M10321 M16945 M16946 M17588 M25828 M25829 M25830 M25831 M25832 M25833 M25834 M25835 M25836 M25837 M25838 M25839 M25840 M25841 M25842 M25843 M25844 M25845 M25846 M25847 M25848 M25849 M25850 M25851 M25852 M25853 M25854 M25855 M25856 M25857 M25858 M25859 M25860 M25861 M25862 M25863 M25864 M25865 M60675 U81237 X02672 X04146 X04385 X06828 X06829
GenPept AAA61293 AAA61294 AAA61295 AAA65940 AAB39987 AAB59458 AAB59512 AEY75227 CAA26503 CAA27765 CAA27972 CAA29985
RNA Seq Atlas 7450

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca