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Protein

von Willebrand factor

Gene

VWF

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

Functioni

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.

GO - Molecular functioni

  • chaperone binding Source: UniProtKB
  • collagen binding Source: UniProtKB
  • glycoprotein binding Source: UniProtKB
  • identical protein binding Source: IntAct
  • immunoglobulin binding Source: UniProtKB
  • integrin binding Source: UniProtKB
  • protease binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB

GO - Biological processi

  • blood coagulation Source: UniProtKB
  • blood coagulation, intrinsic pathway Source: Reactome
  • cell adhesion Source: UniProtKB
  • cell-substrate adhesion Source: UniProtKB
  • extracellular matrix organization Source: Reactome
  • hemostasis Source: UniProtKB
  • platelet activation Source: UniProtKB
  • platelet degranulation Source: Reactome
  • protein homooligomerization Source: UniProtKB
  • response to wounding Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Blood coagulation, Cell adhesion, Hemostasis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000110799-MONOMER.
ReactomeiR-HSA-114608. Platelet degranulation.
R-HSA-140837. Intrinsic Pathway of Fibrin Clot Formation.
R-HSA-216083. Integrin cell surface interactions.
R-HSA-354192. Integrin alphaIIb beta3 signaling.
R-HSA-354194. GRB2:SOS provides linkage to MAPK signaling for Integrins.
R-HSA-372708. p130Cas linkage to MAPK signaling for integrins.
R-HSA-430116. GP1b-IX-V activation signalling.
R-HSA-5674135. MAP2K and MAPK activation.
R-HSA-6802946. Signaling by moderate kinase activity BRAF mutants.
R-HSA-6802948. Signaling by high-kinase activity BRAF mutants.
R-HSA-6802949. Signaling by RAS mutants.
R-HSA-6802952. Signaling by BRAF and RAF fusions.
R-HSA-6802955. Paradoxical activation of RAF signaling by kinase inactive BRAF.
R-HSA-75892. Platelet Adhesion to exposed collagen.
R-HSA-76009. Platelet Aggregation (Plug Formation).

Protein family/group databases

MEROPSiI08.950.

Names & Taxonomyi

Protein namesi
Recommended name:
von Willebrand factor
Short name:
vWF
Cleaved into the following chain:
Alternative name(s):
von Willebrand antigen II
Gene namesi
Name:VWF
Synonyms:F8VWF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:12726. VWF.

Subcellular locationi

  • Secreted 1 Publication
  • Secretedextracellular spaceextracellular matrix 1 Publication

  • Note: Localized to storage granules.

GO - Cellular componenti

  • endoplasmic reticulum Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • extracellular matrix Source: UniProtKB
  • extracellular region Source: UniProtKB
  • platelet alpha granule Source: UniProtKB
  • platelet alpha granule lumen Source: Reactome
  • proteinaceous extracellular matrix Source: UniProtKB-SubCell
  • Weibel-Palade body Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

von Willebrand disease 1 (VWD1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:193400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010242273R → W in VWD1 and VWD3; defect in secretion and formation of multimers. 1 PublicationCorresponds to variant rs61753997dbSNPEnsembl.1
Natural variantiVAR_0649251149C → R in VWD1; reduced secretion of homodimers and heterodimers with wild type VWD and increased degradation by the proteasome. 1 PublicationCorresponds to variant rs61748511dbSNPEnsembl.1
von Willebrand disease 2 (VWD2)29 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613554
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005783528N → S in VWD2. 1 PublicationCorresponds to variant rs61754010dbSNPEnsembl.1
Natural variantiVAR_005784550G → R in VWD2. 1 PublicationCorresponds to variant rs61754011dbSNPEnsembl.1
Natural variantiVAR_009141788C → Y in VWD2. Corresponds to variant rs61748476dbSNPEnsembl.1
Natural variantiVAR_005786791T → M in VWD2; Normandy type. 1 PublicationCorresponds to variant rs61748477dbSNPEnsembl.1
Natural variantiVAR_005787816R → W in VWD2; Normandy type. 1 PublicationCorresponds to variant rs121964894dbSNPEnsembl.1
Natural variantiVAR_005789854R → Q in VWD2; Normandy type. 1 PublicationCorresponds to variant rs41276738dbSNPEnsembl.1
Natural variantiVAR_0284461060C → R in VWD2. 1 PublicationCorresponds to variant rs61748497dbSNPEnsembl.1
Natural variantiVAR_0057911266P → L in VWD2. 1 PublicationCorresponds to variant rs61749370dbSNPEnsembl.1
Natural variantiVAR_0057921268H → D in VWD2. 1 PublicationCorresponds to variant rs61749371dbSNPEnsembl.1
Natural variantiVAR_0673401272C → F in VWD2; subtype 2A. 1 PublicationCorresponds to variant rs63524161dbSNPEnsembl.1
Natural variantiVAR_0057931272C → R in VWD2. 1 PublicationCorresponds to variant rs61749372dbSNPEnsembl.1
Natural variantiVAR_0057941306R → W in VWD2. 4 PublicationsCorresponds to variant rs61749384dbSNPEnsembl.1
Natural variantiVAR_0057951308R → C in VWD2. 4 PublicationsCorresponds to variant rs61749387dbSNPEnsembl.1
Natural variantiVAR_0057961313W → C in VWD2. 1 PublicationCorresponds to variant rs61749392dbSNPEnsembl.1
Natural variantiVAR_0057971314V → L in VWD2. 1 PublicationCorresponds to variant rs61749393dbSNPEnsembl.1
Natural variantiVAR_0057981316V → M in VWD2. 3 PublicationsCorresponds to variant rs61749397dbSNPEnsembl.1
Natural variantiVAR_0057991318V → L in VWD2. 1 Publication1
Natural variantiVAR_0058001324G → S in VWD2. 1 PublicationCorresponds to variant rs61749398dbSNPEnsembl.1
Natural variantiVAR_0058011341R → Q in VWD2. 1 PublicationCorresponds to variant rs61749403dbSNPEnsembl.1
Natural variantiVAR_0058021374R → C in VWD2. 1 PublicationCorresponds to variant rs61750071dbSNPEnsembl.1
Natural variantiVAR_0058031374R → H in VWD2. 2 PublicationsCorresponds to variant rs61750072dbSNPEnsembl.1
Natural variantiVAR_0058061460L → V in VWD2. 1 PublicationCorresponds to variant rs61750088dbSNPEnsembl.1
Natural variantiVAR_0058071461A → V in VWD2. 1 PublicationCorresponds to variant rs61750089dbSNPEnsembl.1
Natural variantiVAR_0058081514F → C in VWD2. 1 PublicationCorresponds to variant rs61750101dbSNPEnsembl.1
Natural variantiVAR_0058091540L → P in VWD2. 1 PublicationCorresponds to variant rs267607342dbSNPEnsembl.1
Natural variantiVAR_0058111597R → G in VWD2. 1 PublicationCorresponds to variant rs61750117dbSNPEnsembl.1
Natural variantiVAR_0058121597R → Q in VWD2. 1 PublicationCorresponds to variant rs61750577dbSNPEnsembl.1
Natural variantiVAR_0058131597R → W in VWD2. 1 PublicationCorresponds to variant rs61750117dbSNPEnsembl.1
Natural variantiVAR_0058141607V → D in VWD2. 1 PublicationCorresponds to variant rs61750579dbSNPEnsembl.1
Natural variantiVAR_0058151609G → R in VWD2. 2 PublicationsCorresponds to variant rs61750580dbSNPEnsembl.1
Natural variantiVAR_0058161613S → P in VWD2. 1 PublicationCorresponds to variant rs61750581dbSNPEnsembl.1
Natural variantiVAR_0058171628I → T in VWD2. 3 PublicationsCorresponds to variant rs61750584dbSNPEnsembl.1
Natural variantiVAR_0058181638E → K in VWD2. 1 PublicationCorresponds to variant rs61750588dbSNPEnsembl.1
Natural variantiVAR_0058191648P → S in VWD2. 1 PublicationCorresponds to variant rs61750590dbSNPEnsembl.1
Natural variantiVAR_0058201665V → E in VWD2. 1 PublicationCorresponds to variant rs61750596dbSNPEnsembl.1
Natural variantiVAR_0058222773C → R in VWD2. 1 PublicationCorresponds to variant rs61751310dbSNPEnsembl.1
von Willebrand disease 3 (VWD3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:277480
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010242273R → W in VWD1 and VWD3; defect in secretion and formation of multimers. 1 PublicationCorresponds to variant rs61753997dbSNPEnsembl.1
Natural variantiVAR_005782377W → C in VWD3. 1 PublicationCorresponds to variant rs62643626dbSNPEnsembl.1
Natural variantiVAR_0091422063P → S in VWD3. Corresponds to variant rs61750615dbSNPEnsembl.1
Natural variantiVAR_0091432362C → F in VWD3. Corresponds to variant rs61750630dbSNPEnsembl.1
Natural variantiVAR_0091442546N → Y in VWD3. Corresponds to variant rs61751298dbSNPEnsembl.1
Natural variantiVAR_0058212739C → Y in VWD3. 1 PublicationCorresponds to variant rs61751305dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1149C → R: Reduced secretion and increased intracellular retention. Similar phenotype; when associated with S-1169. 1 Publication1
Mutagenesisi1169C → S: Reduced secretion and increased intracellular retention. Similar phenotype; when associated with R-1149. 1 Publication1

Keywords - Diseasei

Disease mutation, von Willebrand disease

Organism-specific databases

DisGeNETi7450.
MalaCardsiVWF.
MIMi193400. phenotype.
277480. phenotype.
613554. phenotype.
OpenTargetsiENSG00000110799.
Orphaneti166078. Von Willebrand disease type 1.
166084. Von Willebrand disease type 2A.
166087. Von Willebrand disease type 2B.
166090. Von Willebrand disease type 2M.
166093. Von Willebrand disease type 2N.
166096. Von Willebrand disease type 3.
PharmGKBiPA37337.

Chemistry databases

ChEMBLiCHEMBL2021748.
DrugBankiDB00025. Antihemophilic Factor (Recombinant).

Polymorphism and mutation databases

BioMutaiVWF.
DMDMi317373549.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 221 PublicationAdd BLAST22
ChainiPRO_000002268223 – 763von Willebrand antigen 2Add BLAST741
ChainiPRO_0000022683764 – 2813von Willebrand factorAdd BLAST2050

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi? ↔ 2811By similarity
Glycosylationi99N-linked (GlcNAc...)Sequence analysis1
Glycosylationi156N-linked (GlcNAc...)Sequence analysis1
Glycosylationi211N-linked (GlcNAc...)Sequence analysis1
Glycosylationi666N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi767 ↔ 8081 Publication
Disulfide bondi776 ↔ 8041 Publication
Disulfide bondi810 ↔ 8211 Publication
Glycosylationi857N-linked (GlcNAc...)1
Disulfide bondi867 ↔ 9961 Publication
Disulfide bondi889 ↔ 10311 Publication
Disulfide bondi898 ↔ 9931 Publication
Disulfide bondi914 ↔ 9211 Publication
Disulfide bondi1060 ↔ 10841 Publication
Disulfide bondi1071 ↔ 11111 Publication
Disulfide bondi1089 ↔ 10911 Publication
Disulfide bondi1126 ↔ 11301 Publication
Glycosylationi1147N-linked (GlcNAc...); atypical1
Disulfide bondi1149 ↔ 11691 Publication
Disulfide bondi1153 ↔ 11651 Publication
Disulfide bondi1196 ↔ 11991 Publication
Glycosylationi1231N-linked (GlcNAc...)1
Disulfide bondi1234 ↔ 12371 Publication
Glycosylationi1248O-linked (GalNAc...)Curated1
Glycosylationi1255O-linked (GalNAc...)Curated1
Glycosylationi1256O-linked (GalNAc...)Curated1
Glycosylationi1263O-linked (GalNAc...)1 Publication1
Disulfide bondi1272 ↔ 14581 Publication
Glycosylationi1468O-linked (GalNAc...)Curated1
Glycosylationi1477O-linked (GalNAc...)Curated1
Glycosylationi1486O-linked (GalNAc...)Curated1
Glycosylationi1487O-linked (GalNAc...)Curated1
Glycosylationi1515N-linked (GlcNAc...) (complex)2 Publications1
Glycosylationi1574N-linked (GlcNAc...)1
Disulfide bondi1669 ↔ 16701 Publication
Glycosylationi1679O-linked (GalNAc...)Curated1
Disulfide bondi1686 ↔ 18721 Publication
Disulfide bondi1879 ↔ 19041 Publication
Disulfide bondi1899 ↔ 1940Or C-1899 with C-1942PROSITE-ProRule annotation1 Publication
Disulfide bondi1927 ↔ 20881 Publication
Disulfide bondi1950 ↔ 20851 Publication
Disulfide bondi1972 ↔ 21231 Publication
Disulfide bondi1993 ↔ 20011 Publication
Glycosylationi2223N-linked (GlcNAc...)1
Glycosylationi2290N-linked (GlcNAc...)1
Glycosylationi2298O-linked (GalNAc...)Curated1
Glycosylationi2357N-linked (GlcNAc...)1
Glycosylationi2400N-linked (GlcNAc...)1
Glycosylationi2546N-linked (GlcNAc...)1 Publication1
Glycosylationi2585N-linked (GlcNAc...)1
Disulfide bondi2724 ↔ 2774By similarity
Disulfide bondi2739 ↔ 2788By similarity
Disulfide bondi2750 ↔ 2804By similarity
Disulfide bondi2754 ↔ 2806By similarity
Glycosylationi2790N-linked (GlcNAc...)1

Post-translational modificationi

All cysteine residues are involved in intrachain or interchain disulfide bonds.
N- and O-glycosylated.3 Publications

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP04275.
PeptideAtlasiP04275.
PRIDEiP04275.

PTM databases

iPTMnetiP04275.
PhosphoSitePlusiP04275.
SwissPalmiP04275.
UniCarbKBiP04275.

Expressioni

Tissue specificityi

Plasma.

Gene expression databases

BgeeiENSG00000110799.
CleanExiHS_VWF.
ExpressionAtlasiP04275. baseline and differential.
GenevisibleiP04275. HS.

Organism-specific databases

HPAiCAB001694.
CAB072874.
CAB072875.
HPA001815.
HPA002082.

Interactioni

Subunit structurei

Multimeric. Interacts with F8.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself15EBI-981819,EBI-981819
ADAMTS13Q76LX85EBI-981819,EBI-981764
GP1BAP073592EBI-981819,EBI-297082
OPTNQ96CV92EBI-981819,EBI-748974

GO - Molecular functioni

  • chaperone binding Source: UniProtKB
  • collagen binding Source: UniProtKB
  • identical protein binding Source: IntAct
  • immunoglobulin binding Source: UniProtKB
  • integrin binding Source: UniProtKB
  • protease binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB

Protein-protein interaction databases

BioGridi113289. 14 interactors.
DIPiDIP-29667N.
IntActiP04275. 49 interactors.
MINTiMINT-244925.
STRINGi9606.ENSP00000261405.

Structurei

Secondary structure

12813
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi767 – 769Combined sources3
Beta strandi771 – 774Combined sources4
Turni781 – 786Combined sources6
Turni792 – 794Combined sources3
Beta strandi795 – 797Combined sources3
Beta strandi804 – 809Combined sources6
Beta strandi814 – 817Combined sources4
Beta strandi820 – 823Combined sources4
Helixi824 – 826Combined sources3
Beta strandi829 – 833Combined sources5
Beta strandi841 – 844Combined sources4
Beta strandi847 – 852Combined sources6
Beta strandi855 – 858Combined sources4
Beta strandi1267 – 1269Combined sources3
Turni1270 – 1273Combined sources4
Beta strandi1276 – 1283Combined sources8
Beta strandi1285 – 1288Combined sources4
Helixi1290 – 1305Combined sources16
Turni1307 – 1310Combined sources4
Beta strandi1313 – 1329Combined sources17
Helixi1337 – 1345Combined sources9
Helixi1357 – 1366Combined sources10
Beta strandi1369 – 1371Combined sources3
Beta strandi1377 – 1385Combined sources9
Helixi1391 – 1393Combined sources3
Helixi1394 – 1396Combined sources3
Helixi1397 – 1406Combined sources10
Beta strandi1409 – 1417Combined sources9
Helixi1422 – 1431Combined sources10
Helixi1433 – 1435Combined sources3
Beta strandi1438 – 1442Combined sources5
Helixi1443 – 1445Combined sources3
Helixi1446 – 1460Combined sources15
Beta strandi1498 – 1504Combined sources7
Turni1507 – 1509Combined sources3
Helixi1511 – 1527Combined sources17
Beta strandi1534 – 1550Combined sources17
Helixi1558 – 1567Combined sources10
Helixi1578 – 1587Combined sources10
Turni1588 – 1590Combined sources3
Helixi1592 – 1594Combined sources3
Helixi1595 – 1599Combined sources5
Beta strandi1602 – 1608Combined sources7
Beta strandi1623 – 1631Combined sources9
Helixi1636 – 1643Combined sources8
Beta strandi1649 – 1652Combined sources4
Turni1654 – 1656Combined sources3
Helixi1657 – 1670Combined sources14
Beta strandi1690 – 1697Combined sources8
Beta strandi1699 – 1702Combined sources4
Helixi1704 – 1720Combined sources17
Beta strandi1727 – 1743Combined sources17
Beta strandi1745 – 1747Combined sources3
Helixi1751 – 1759Combined sources9
Helixi1770 – 1782Combined sources13
Helixi1784 – 1786Combined sources3
Beta strandi1792 – 1800Combined sources9
Helixi1809 – 1817Combined sources9
Beta strandi1820 – 1831Combined sources12
Helixi1833 – 1839Combined sources7
Helixi1841 – 1847Combined sources7
Beta strandi1849 – 1853Combined sources5
Helixi1856 – 1862Combined sources7
Beta strandi1863 – 1865Combined sources3
Helixi1866 – 1870Combined sources5
Beta strandi2728 – 2732Combined sources5
Beta strandi2739 – 2743Combined sources5
Beta strandi2745 – 2749Combined sources5
Beta strandi2756 – 2761Combined sources6
Turni2762 – 2765Combined sources4
Beta strandi2766 – 2787Combined sources22
Beta strandi2793 – 2801Combined sources9
Beta strandi2804 – 2809Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1AO3X-ray2.20A/B1686-1872[»]
1ATZX-ray1.80A/B1685-1873[»]
1AUQX-ray2.30A1261-1468[»]
1FE8X-ray2.03A/B/C1683-1874[»]
1FNSX-ray2.00A1271-1465[»]
1IJBX-ray1.80A1263-1464[»]
1IJKX-ray2.60A1263-1464[»]
1M10X-ray3.10A1261-1468[»]
1OAKX-ray2.20A1271-1465[»]
1SQ0X-ray2.60A1259-1471[»]
1U0NX-ray2.95A1261-1468[»]
1UEXX-ray2.85C1260-1468[»]
2ADFX-ray1.90A1683-1874[»]
2MHPNMR-A766-864[»]
2MHQNMR-A766-864[»]
3GXBX-ray1.90A/B1495-1671[»]
3HXOX-ray2.40A1260-1468[»]
3HXQX-ray2.69A1260-1468[»]
3PPVX-ray1.90A1488-1674[»]
3PPWX-ray1.90A1488-1674[»]
3PPXX-ray1.91A1488-1674[»]
3PPYX-ray2.00A1488-1674[»]
3ZQKX-ray1.70A/B/C1478-1674[»]
4C29X-ray2.20A/B1264-1471[»]
4C2AX-ray2.08A1264-1471[»]
4C2BX-ray2.80A/C/E/G1264-1471[»]
4DMUX-ray2.80B/D/F/H/J/L1683-1874[»]
4NT5X-ray3.28A2721-2813[»]
5BV8X-ray1.59A1238-1461[»]
ProteinModelPortaliP04275.
SMRiP04275.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP04275.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini34 – 240VWFD 1PROSITE-ProRule annotationAdd BLAST207
Domaini295 – 348TIL 1Add BLAST54
Domaini387 – 598VWFD 2PROSITE-ProRule annotationAdd BLAST212
Domaini652 – 707TIL 2Add BLAST56
Domaini776 – 827TIL 3Add BLAST52
Domaini866 – 1074VWFD 3PROSITE-ProRule annotationAdd BLAST209
Domaini1146 – 1196TIL 4Add BLAST51
Domaini1277 – 1453VWFA 1; binding site for platelet glycoprotein IbPROSITE-ProRule annotationAdd BLAST177
Domaini1498 – 1665VWFA 2PROSITE-ProRule annotationAdd BLAST168
Domaini1691 – 1871VWFA 3; main binding site for collagens type I and IIIPROSITE-ProRule annotationAdd BLAST181
Domaini1949 – 2153VWFD 4PROSITE-ProRule annotationAdd BLAST205
Domaini2255 – 2328VWFC 1PROSITE-ProRule annotationAdd BLAST74
Domaini2429 – 2495VWFC 2PROSITE-ProRule annotationAdd BLAST67
Domaini2580 – 2645VWFC 3PROSITE-ProRule annotationAdd BLAST66
Domaini2724 – 2812CTCKPROSITE-ProRule annotationAdd BLAST89

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni764 – 787Amino-terminalAdd BLAST24
Regioni788 – 833E1Add BLAST46
Regioni826 – 853CXAdd BLAST28
Regioni2216 – 2261E2Add BLAST46

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi2507 – 2509Cell attachment site3

Domaini

The von Willebrand antigen 2 is required for multimerization of vWF and for its targeting to storage granules.

Sequence similaritiesi

Contains 1 CTCK (C-terminal cystine knot-like) domain.PROSITE-ProRule annotation
Contains 3 VWFA domains.PROSITE-ProRule annotation
Contains 3 VWFC domains.PROSITE-ProRule annotation
Contains 4 VWFD domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IR8A. Eukaryota.
ENOG41100RZ. LUCA.
GeneTreeiENSGT00760000118896.
HOGENOMiHOG000169747.
HOVERGENiHBG004380.
InParanoidiP04275.
KOiK03900.
OMAiECCGRCL.
OrthoDBiEOG091G0006.
PhylomeDBiP04275.
TreeFamiTF300299.

Family and domain databases

Gene3Di3.40.50.410. 3 hits.
InterProiIPR006207. Cys_knot_C.
IPR002919. TIL_dom.
IPR014853. Unchr_dom_Cys-rich.
IPR032361. VWA_N2.
IPR012011. VWF.
IPR002035. VWF_A.
IPR001007. VWF_dom.
IPR001846. VWF_type-D.
[Graphical view]
PANTHERiPTHR11339:SF259. PTHR11339:SF259. 4 hits.
PfamiPF08742. C8. 4 hits.
PF01826. TIL. 5 hits.
PF00092. VWA. 3 hits.
PF16164. VWA_N2. 1 hit.
PF00093. VWC. 3 hits.
PF00094. VWD. 4 hits.
[Graphical view]
SMARTiSM00832. C8. 4 hits.
SM00041. CT. 1 hit.
SM00327. VWA. 3 hits.
SM00214. VWC. 5 hits.
SM00215. VWC_out. 2 hits.
SM00216. VWD. 4 hits.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 3 hits.
SSF57567. SSF57567. 5 hits.
PROSITEiPS01185. CTCK_1. 1 hit.
PS01225. CTCK_2. 1 hit.
PS50234. VWFA. 3 hits.
PS01208. VWFC_1. 3 hits.
PS50184. VWFC_2. 3 hits.
PS51233. VWFD. 4 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P04275-1) [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
MIPARFAGVL LALALILPGT LCAEGTRGRS STARCSLFGS DFVNTFDGSM
60 70 80 90 100
YSFAGYCSYL LAGGCQKRSF SIIGDFQNGK RVSLSVYLGE FFDIHLFVNG
110 120 130 140 150
TVTQGDQRVS MPYASKGLYL ETEAGYYKLS GEAYGFVARI DGSGNFQVLL
160 170 180 190 200
SDRYFNKTCG LCGNFNIFAE DDFMTQEGTL TSDPYDFANS WALSSGEQWC
210 220 230 240 250
ERASPPSSSC NISSGEMQKG LWEQCQLLKS TSVFARCHPL VDPEPFVALC
260 270 280 290 300
EKTLCECAGG LECACPALLE YARTCAQEGM VLYGWTDHSA CSPVCPAGME
310 320 330 340 350
YRQCVSPCAR TCQSLHINEM CQERCVDGCS CPEGQLLDEG LCVESTECPC
360 370 380 390 400
VHSGKRYPPG TSLSRDCNTC ICRNSQWICS NEECPGECLV TGQSHFKSFD
410 420 430 440 450
NRYFTFSGIC QYLLARDCQD HSFSIVIETV QCADDRDAVC TRSVTVRLPG
460 470 480 490 500
LHNSLVKLKH GAGVAMDGQD VQLPLLKGDL RIQHTVTASV RLSYGEDLQM
510 520 530 540 550
DWDGRGRLLV KLSPVYAGKT CGLCGNYNGN QGDDFLTPSG LAEPRVEDFG
560 570 580 590 600
NAWKLHGDCQ DLQKQHSDPC ALNPRMTRFS EEACAVLTSP TFEACHRAVS
610 620 630 640 650
PLPYLRNCRY DVCSCSDGRE CLCGALASYA AACAGRGVRV AWREPGRCEL
660 670 680 690 700
NCPKGQVYLQ CGTPCNLTCR SLSYPDEECN EACLEGCFCP PGLYMDERGD
710 720 730 740 750
CVPKAQCPCY YDGEIFQPED IFSDHHTMCY CEDGFMHCTM SGVPGSLLPD
760 770 780 790 800
AVLSSPLSHR SKRSLSCRPP MVKLVCPADN LRAEGLECTK TCQNYDLECM
810 820 830 840 850
SMGCVSGCLC PPGMVRHENR CVALERCPCF HQGKEYAPGE TVKIGCNTCV
860 870 880 890 900
CQDRKWNCTD HVCDATCSTI GMAHYLTFDG LKYLFPGECQ YVLVQDYCGS
910 920 930 940 950
NPGTFRILVG NKGCSHPSVK CKKRVTILVE GGEIELFDGE VNVKRPMKDE
960 970 980 990 1000
THFEVVESGR YIILLLGKAL SVVWDRHLSI SVVLKQTYQE KVCGLCGNFD
1010 1020 1030 1040 1050
GIQNNDLTSS NLQVEEDPVD FGNSWKVSSQ CADTRKVPLD SSPATCHNNI
1060 1070 1080 1090 1100
MKQTMVDSSC RILTSDVFQD CNKLVDPEPY LDVCIYDTCS CESIGDCACF
1110 1120 1130 1140 1150
CDTIAAYAHV CAQHGKVVTW RTATLCPQSC EERNLRENGY ECEWRYNSCA
1160 1170 1180 1190 1200
PACQVTCQHP EPLACPVQCV EGCHAHCPPG KILDELLQTC VDPEDCPVCE
1210 1220 1230 1240 1250
VAGRRFASGK KVTLNPSDPE HCQICHCDVV NLTCEACQEP GGLVVPPTDA
1260 1270 1280 1290 1300
PVSPTTLYVE DISEPPLHDF YCSRLLDLVF LLDGSSRLSE AEFEVLKAFV
1310 1320 1330 1340 1350
VDMMERLRIS QKWVRVAVVE YHDGSHAYIG LKDRKRPSEL RRIASQVKYA
1360 1370 1380 1390 1400
GSQVASTSEV LKYTLFQIFS KIDRPEASRI TLLLMASQEP QRMSRNFVRY
1410 1420 1430 1440 1450
VQGLKKKKVI VIPVGIGPHA NLKQIRLIEK QAPENKAFVL SSVDELEQQR
1460 1470 1480 1490 1500
DEIVSYLCDL APEAPPPTLP PDMAQVTVGP GLLGVSTLGP KRNSMVLDVA
1510 1520 1530 1540 1550
FVLEGSDKIG EADFNRSKEF MEEVIQRMDV GQDSIHVTVL QYSYMVTVEY
1560 1570 1580 1590 1600
PFSEAQSKGD ILQRVREIRY QGGNRTNTGL ALRYLSDHSF LVSQGDREQA
1610 1620 1630 1640 1650
PNLVYMVTGN PASDEIKRLP GDIQVVPIGV GPNANVQELE RIGWPNAPIL
1660 1670 1680 1690 1700
IQDFETLPRE APDLVLQRCC SGEGLQIPTL SPAPDCSQPL DVILLLDGSS
1710 1720 1730 1740 1750
SFPASYFDEM KSFAKAFISK ANIGPRLTQV SVLQYGSITT IDVPWNVVPE
1760 1770 1780 1790 1800
KAHLLSLVDV MQREGGPSQI GDALGFAVRY LTSEMHGARP GASKAVVILV
1810 1820 1830 1840 1850
TDVSVDSVDA AADAARSNRV TVFPIGIGDR YDAAQLRILA GPAGDSNVVK
1860 1870 1880 1890 1900
LQRIEDLPTM VTLGNSFLHK LCSGFVRICM DEDGNEKRPG DVWTLPDQCH
1910 1920 1930 1940 1950
TVTCQPDGQT LLKSHRVNCD RGLRPSCPNS QSPVKVEETC GCRWTCPCVC
1960 1970 1980 1990 2000
TGSSTRHIVT FDGQNFKLTG SCSYVLFQNK EQDLEVILHN GACSPGARQG
2010 2020 2030 2040 2050
CMKSIEVKHS ALSVELHSDM EVTVNGRLVS VPYVGGNMEV NVYGAIMHEV
2060 2070 2080 2090 2100
RFNHLGHIFT FTPQNNEFQL QLSPKTFASK TYGLCGICDE NGANDFMLRD
2110 2120 2130 2140 2150
GTVTTDWKTL VQEWTVQRPG QTCQPILEEQ CLVPDSSHCQ VLLLPLFAEC
2160 2170 2180 2190 2200
HKVLAPATFY AICQQDSCHQ EQVCEVIASY AHLCRTNGVC VDWRTPDFCA
2210 2220 2230 2240 2250
MSCPPSLVYN HCEHGCPRHC DGNVSSCGDH PSEGCFCPPD KVMLEGSCVP
2260 2270 2280 2290 2300
EEACTQCIGE DGVQHQFLEA WVPDHQPCQI CTCLSGRKVN CTTQPCPTAK
2310 2320 2330 2340 2350
APTCGLCEVA RLRQNADQCC PEYECVCDPV SCDLPPVPHC ERGLQPTLTN
2360 2370 2380 2390 2400
PGECRPNFTC ACRKEECKRV SPPSCPPHRL PTLRKTQCCD EYECACNCVN
2410 2420 2430 2440 2450
STVSCPLGYL ASTATNDCGC TTTTCLPDKV CVHRSTIYPV GQFWEEGCDV
2460 2470 2480 2490 2500
CTCTDMEDAV MGLRVAQCSQ KPCEDSCRSG FTYVLHEGEC CGRCLPSACE
2510 2520 2530 2540 2550
VVTGSPRGDS QSSWKSVGSQ WASPENPCLI NECVRVKEEV FIQQRNVSCP
2560 2570 2580 2590 2600
QLEVPVCPSG FQLSCKTSAC CPSCRCERME ACMLNGTVIG PGKTVMIDVC
2610 2620 2630 2640 2650
TTCRCMVQVG VISGFKLECR KTTCNPCPLG YKEENNTGEC CGRCLPTACT
2660 2670 2680 2690 2700
IQLRGGQIMT LKRDETLQDG CDTHFCKVNE RGEYFWEKRV TGCPPFDEHK
2710 2720 2730 2740 2750
CLAEGGKIMK IPGTCCDTCE EPECNDITAR LQYVKVGSCK SEVEVDIHYC
2760 2770 2780 2790 2800
QGKCASKAMY SIDINDVQDQ CSCCSPTRTE PMQVALHCTN GSVVYHEVLN
2810
AMECKCSPRK CSK
Length:2,813
Mass (Da):309,265
Last modified:January 11, 2011 - v4
Checksum:iD5C1C78360917C29
GO
Isoform 2 (identifier: P04275-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-18: MIPARFAGVLLALALILP → MGAQDEEEGIQDLDGLLVFDKIVEVTLLNLPWYNEETEGQRGEMTAPKSPRAKIR
     220-314: GLWEQCQLLK...VSPCARTCQS → EEPECNDITA...KCSPRKCSKI
     315-2813: Missing.

Note: No experimental confirmation available.
Show »
Length:351
Mass (Da):38,745
Checksum:iA8236A7126BC6BB5
GO

Sequence cautioni

The sequence AAB59512 differs from that shown. Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti770P → H in AAB59512 (PubMed:2864688).Curated1
Sequence conflicti804C → S AA sequence (PubMed:3524673).Curated1
Sequence conflicti804C → S in AAB59512 (PubMed:2864688).Curated1
Sequence conflicti1914S → T in CAA27972 (PubMed:3489923).Curated1
Sequence conflicti2168C → S AA sequence (PubMed:3524673).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010242273R → W in VWD1 and VWD3; defect in secretion and formation of multimers. 1 PublicationCorresponds to variant rs61753997dbSNPEnsembl.1
Natural variantiVAR_057023318N → K.Corresponds to variant rs1800387dbSNPEnsembl.1
Natural variantiVAR_005782377W → C in VWD3. 1 PublicationCorresponds to variant rs62643626dbSNPEnsembl.1
Natural variantiVAR_060591471V → I.1 PublicationCorresponds to variant rs1800377dbSNPEnsembl.1
Natural variantiVAR_024553484H → R.1 PublicationCorresponds to variant rs1800378dbSNPEnsembl.1
Natural variantiVAR_005783528N → S in VWD2. 1 PublicationCorresponds to variant rs61754010dbSNPEnsembl.1
Natural variantiVAR_005784550G → R in VWD2. 1 PublicationCorresponds to variant rs61754011dbSNPEnsembl.1
Natural variantiVAR_057024740M → I.Corresponds to variant rs16932374dbSNPEnsembl.1
Natural variantiVAR_009141788C → Y in VWD2. Corresponds to variant rs61748476dbSNPEnsembl.1
Natural variantiVAR_005785789T → A.1 PublicationCorresponds to variant rs1063856dbSNPEnsembl.1
Natural variantiVAR_005786791T → M in VWD2; Normandy type. 1 PublicationCorresponds to variant rs61748477dbSNPEnsembl.1
Natural variantiVAR_005787816R → W in VWD2; Normandy type. 1 PublicationCorresponds to variant rs121964894dbSNPEnsembl.1
Natural variantiVAR_005788852Q → R.6 PublicationsCorresponds to variant rs216321dbSNPEnsembl.1
Natural variantiVAR_005789854R → Q in VWD2; Normandy type. 1 PublicationCorresponds to variant rs41276738dbSNPEnsembl.1
Natural variantiVAR_005790857N → D.1
Natural variantiVAR_057025885F → S.Corresponds to variant rs11064002dbSNPEnsembl.1
Natural variantiVAR_0284461060C → R in VWD2. 1 PublicationCorresponds to variant rs61748497dbSNPEnsembl.1
Natural variantiVAR_0649251149C → R in VWD1; reduced secretion of homodimers and heterodimers with wild type VWD and increased degradation by the proteasome. 1 PublicationCorresponds to variant rs61748511dbSNPEnsembl.1
Natural variantiVAR_0057911266P → L in VWD2. 1 PublicationCorresponds to variant rs61749370dbSNPEnsembl.1
Natural variantiVAR_0057921268H → D in VWD2. 1 PublicationCorresponds to variant rs61749371dbSNPEnsembl.1
Natural variantiVAR_0673401272C → F in VWD2; subtype 2A. 1 PublicationCorresponds to variant rs63524161dbSNPEnsembl.1
Natural variantiVAR_0057931272C → R in VWD2. 1 PublicationCorresponds to variant rs61749372dbSNPEnsembl.1
Natural variantiVAR_0057941306R → W in VWD2. 4 PublicationsCorresponds to variant rs61749384dbSNPEnsembl.1
Natural variantiVAR_0057951308R → C in VWD2. 4 PublicationsCorresponds to variant rs61749387dbSNPEnsembl.1
Natural variantiVAR_0057961313W → C in VWD2. 1 PublicationCorresponds to variant rs61749392dbSNPEnsembl.1
Natural variantiVAR_0057971314V → L in VWD2. 1 PublicationCorresponds to variant rs61749393dbSNPEnsembl.1
Natural variantiVAR_0057981316V → M in VWD2. 3 PublicationsCorresponds to variant rs61749397dbSNPEnsembl.1
Natural variantiVAR_0057991318V → L in VWD2. 1 Publication1
Natural variantiVAR_0058001324G → S in VWD2. 1 PublicationCorresponds to variant rs61749398dbSNPEnsembl.1
Natural variantiVAR_0058011341R → Q in VWD2. 1 PublicationCorresponds to variant rs61749403dbSNPEnsembl.1
Natural variantiVAR_0058021374R → C in VWD2. 1 PublicationCorresponds to variant rs61750071dbSNPEnsembl.1
Natural variantiVAR_0058031374R → H in VWD2. 2 PublicationsCorresponds to variant rs61750072dbSNPEnsembl.1
Natural variantiVAR_0058041381T → A.8 PublicationsCorresponds to variant rs216311dbSNPEnsembl.1
Natural variantiVAR_0058051399R → H.1 PublicationCorresponds to variant rs216312dbSNPEnsembl.1
Natural variantiVAR_0058061460L → V in VWD2. 1 PublicationCorresponds to variant rs61750088dbSNPEnsembl.1
Natural variantiVAR_0058071461A → V in VWD2. 1 PublicationCorresponds to variant rs61750089dbSNPEnsembl.1
Natural variantiVAR_0296561472D → H.3 PublicationsCorresponds to variant rs1800383dbSNPEnsembl.1
Natural variantiVAR_0058081514F → C in VWD2. 1 PublicationCorresponds to variant rs61750101dbSNPEnsembl.1
Natural variantiVAR_0058091540L → P in VWD2. 1 PublicationCorresponds to variant rs267607342dbSNPEnsembl.1
Natural variantiVAR_0146301565V → L.Corresponds to variant rs1800385dbSNPEnsembl.1
Natural variantiVAR_0362761570Y → C in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0058101584Y → C Exhibits increased in susceptibility to proteolysis by ADAMTS13. 2 PublicationsCorresponds to variant rs1800386dbSNPEnsembl.1
Natural variantiVAR_0058111597R → G in VWD2. 1 PublicationCorresponds to variant rs61750117dbSNPEnsembl.1
Natural variantiVAR_0058121597R → Q in VWD2. 1 PublicationCorresponds to variant rs61750577dbSNPEnsembl.1
Natural variantiVAR_0058131597R → W in VWD2. 1 PublicationCorresponds to variant rs61750117dbSNPEnsembl.1
Natural variantiVAR_0058141607V → D in VWD2. 1 PublicationCorresponds to variant rs61750579dbSNPEnsembl.1
Natural variantiVAR_0058151609G → R in VWD2. 2 PublicationsCorresponds to variant rs61750580dbSNPEnsembl.1
Natural variantiVAR_0058161613S → P in VWD2. 1 PublicationCorresponds to variant rs61750581dbSNPEnsembl.1
Natural variantiVAR_0058171628I → T in VWD2. 3 PublicationsCorresponds to variant rs61750584dbSNPEnsembl.1
Natural variantiVAR_0058181638E → K in VWD2. 1 PublicationCorresponds to variant rs61750588dbSNPEnsembl.1
Natural variantiVAR_0058191648P → S in VWD2. 1 PublicationCorresponds to variant rs61750590dbSNPEnsembl.1
Natural variantiVAR_0058201665V → E in VWD2. 1 PublicationCorresponds to variant rs61750596dbSNPEnsembl.1
Natural variantiVAR_0091422063P → S in VWD3. Corresponds to variant rs61750615dbSNPEnsembl.1
Natural variantiVAR_0570262178A → S.Corresponds to variant rs34230288dbSNPEnsembl.1
Natural variantiVAR_0570272185R → Q.Corresponds to variant rs2229446dbSNPEnsembl.1
Natural variantiVAR_0091432362C → F in VWD3. Corresponds to variant rs61750630dbSNPEnsembl.1
Natural variantiVAR_0091442546N → Y in VWD3. Corresponds to variant rs61751298dbSNPEnsembl.1
Natural variantiVAR_0570282705G → R.Corresponds to variant rs7962217dbSNPEnsembl.1
Natural variantiVAR_0058212739C → Y in VWD3. 1 PublicationCorresponds to variant rs61751305dbSNPEnsembl.1
Natural variantiVAR_0058222773C → R in VWD2. 1 PublicationCorresponds to variant rs61751310dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0565271 – 18MIPAR…ALILP → MGAQDEEEGIQDLDGLLVFD KIVEVTLLNLPWYNEETEGQ RGEMTAPKSPRAKIR in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_056528220 – 314GLWEQ…RTCQS → EEPECNDITARLQYVKVGSC KSEVEVDIHYCQGKCASKAM YSIDINDVQDQCSCCSPTRT EPMQVALHCTNGSVVYHEVL NAMECKCSPRKCSKI in isoform 2. 1 PublicationAdd BLAST95
Alternative sequenceiVSP_056529315 – 2813Missing in isoform 2. 1 PublicationAdd BLAST2499

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X04385 mRNA. Translation: CAA27972.1.
M25865
, 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 Genomic DNA. Translation: AAB59458.1.
AC005845 Genomic DNA. No translation available.
AC005846 Genomic DNA. No translation available.
AC005904 Genomic DNA. No translation available.
CH471116 Genomic DNA. Translation: EAW88817.1.
BC022258 mRNA. Translation: AAH22258.1.
X04146 mRNA. Translation: CAA27765.1.
X06828, X06829 Genomic DNA. Translation: CAA29985.1.
M17588 mRNA. Translation: AAA65940.1.
M10321 mRNA. Translation: AAB59512.1. Sequence problems.
M60675 Genomic DNA. Translation: AAA61295.1.
U81237 mRNA. Translation: AAB39987.1.
K03028 mRNA. Translation: AAA61293.1.
X02672 mRNA. Translation: CAA26503.1.
M16946, M16945 Genomic DNA. Translation: AAA61294.1.
CCDSiCCDS8539.1. [P04275-1]
PIRiA34480. VWHU.
RefSeqiNP_000543.2. NM_000552.4.
UniGeneiHs.440848.

Genome annotation databases

EnsembliENST00000261405; ENSP00000261405; ENSG00000110799. [P04275-1]
GeneIDi7450.
KEGGihsa:7450.
UCSCiuc001qnn.2. human. [P04275-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

vWF

von Willebrand factor (vWF) mutation db

Wikipedia

Von Willebrand factor entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X04385 mRNA. Translation: CAA27972.1.
M25865
, 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 Genomic DNA. Translation: AAB59458.1.
AC005845 Genomic DNA. No translation available.
AC005846 Genomic DNA. No translation available.
AC005904 Genomic DNA. No translation available.
CH471116 Genomic DNA. Translation: EAW88817.1.
BC022258 mRNA. Translation: AAH22258.1.
X04146 mRNA. Translation: CAA27765.1.
X06828, X06829 Genomic DNA. Translation: CAA29985.1.
M17588 mRNA. Translation: AAA65940.1.
M10321 mRNA. Translation: AAB59512.1. Sequence problems.
M60675 Genomic DNA. Translation: AAA61295.1.
U81237 mRNA. Translation: AAB39987.1.
K03028 mRNA. Translation: AAA61293.1.
X02672 mRNA. Translation: CAA26503.1.
M16946, M16945 Genomic DNA. Translation: AAA61294.1.
CCDSiCCDS8539.1. [P04275-1]
PIRiA34480. VWHU.
RefSeqiNP_000543.2. NM_000552.4.
UniGeneiHs.440848.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1AO3X-ray2.20A/B1686-1872[»]
1ATZX-ray1.80A/B1685-1873[»]
1AUQX-ray2.30A1261-1468[»]
1FE8X-ray2.03A/B/C1683-1874[»]
1FNSX-ray2.00A1271-1465[»]
1IJBX-ray1.80A1263-1464[»]
1IJKX-ray2.60A1263-1464[»]
1M10X-ray3.10A1261-1468[»]
1OAKX-ray2.20A1271-1465[»]
1SQ0X-ray2.60A1259-1471[»]
1U0NX-ray2.95A1261-1468[»]
1UEXX-ray2.85C1260-1468[»]
2ADFX-ray1.90A1683-1874[»]
2MHPNMR-A766-864[»]
2MHQNMR-A766-864[»]
3GXBX-ray1.90A/B1495-1671[»]
3HXOX-ray2.40A1260-1468[»]
3HXQX-ray2.69A1260-1468[»]
3PPVX-ray1.90A1488-1674[»]
3PPWX-ray1.90A1488-1674[»]
3PPXX-ray1.91A1488-1674[»]
3PPYX-ray2.00A1488-1674[»]
3ZQKX-ray1.70A/B/C1478-1674[»]
4C29X-ray2.20A/B1264-1471[»]
4C2AX-ray2.08A1264-1471[»]
4C2BX-ray2.80A/C/E/G1264-1471[»]
4DMUX-ray2.80B/D/F/H/J/L1683-1874[»]
4NT5X-ray3.28A2721-2813[»]
5BV8X-ray1.59A1238-1461[»]
ProteinModelPortaliP04275.
SMRiP04275.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113289. 14 interactors.
DIPiDIP-29667N.
IntActiP04275. 49 interactors.
MINTiMINT-244925.
STRINGi9606.ENSP00000261405.

Chemistry databases

ChEMBLiCHEMBL2021748.
DrugBankiDB00025. Antihemophilic Factor (Recombinant).

Protein family/group databases

MEROPSiI08.950.

PTM databases

iPTMnetiP04275.
PhosphoSitePlusiP04275.
SwissPalmiP04275.
UniCarbKBiP04275.

Polymorphism and mutation databases

BioMutaiVWF.
DMDMi317373549.

Proteomic databases

PaxDbiP04275.
PeptideAtlasiP04275.
PRIDEiP04275.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261405; ENSP00000261405; ENSG00000110799. [P04275-1]
GeneIDi7450.
KEGGihsa:7450.
UCSCiuc001qnn.2. human. [P04275-1]

Organism-specific databases

CTDi7450.
DisGeNETi7450.
GeneCardsiVWF.
GeneReviewsiVWF.
H-InvDBHIX0010356.
HIX0171640.
HGNCiHGNC:12726. VWF.
HPAiCAB001694.
CAB072874.
CAB072875.
HPA001815.
HPA002082.
MalaCardsiVWF.
MIMi193400. phenotype.
277480. phenotype.
613160. gene.
613554. phenotype.
neXtProtiNX_P04275.
OpenTargetsiENSG00000110799.
Orphaneti166078. Von Willebrand disease type 1.
166084. Von Willebrand disease type 2A.
166087. Von Willebrand disease type 2B.
166090. Von Willebrand disease type 2M.
166093. Von Willebrand disease type 2N.
166096. Von Willebrand disease type 3.
PharmGKBiPA37337.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IR8A. Eukaryota.
ENOG41100RZ. LUCA.
GeneTreeiENSGT00760000118896.
HOGENOMiHOG000169747.
HOVERGENiHBG004380.
InParanoidiP04275.
KOiK03900.
OMAiECCGRCL.
OrthoDBiEOG091G0006.
PhylomeDBiP04275.
TreeFamiTF300299.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000110799-MONOMER.
ReactomeiR-HSA-114608. Platelet degranulation.
R-HSA-140837. Intrinsic Pathway of Fibrin Clot Formation.
R-HSA-216083. Integrin cell surface interactions.
R-HSA-354192. Integrin alphaIIb beta3 signaling.
R-HSA-354194. GRB2:SOS provides linkage to MAPK signaling for Integrins.
R-HSA-372708. p130Cas linkage to MAPK signaling for integrins.
R-HSA-430116. GP1b-IX-V activation signalling.
R-HSA-5674135. MAP2K and MAPK activation.
R-HSA-6802946. Signaling by moderate kinase activity BRAF mutants.
R-HSA-6802948. Signaling by high-kinase activity BRAF mutants.
R-HSA-6802949. Signaling by RAS mutants.
R-HSA-6802952. Signaling by BRAF and RAF fusions.
R-HSA-6802955. Paradoxical activation of RAF signaling by kinase inactive BRAF.
R-HSA-75892. Platelet Adhesion to exposed collagen.
R-HSA-76009. Platelet Aggregation (Plug Formation).

Miscellaneous databases

ChiTaRSiVWF. human.
EvolutionaryTraceiP04275.
GeneWikiiVon_Willebrand_factor.
GenomeRNAii7450.
PROiP04275.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000110799.
CleanExiHS_VWF.
ExpressionAtlasiP04275. baseline and differential.
GenevisibleiP04275. HS.

Family and domain databases

Gene3Di3.40.50.410. 3 hits.
InterProiIPR006207. Cys_knot_C.
IPR002919. TIL_dom.
IPR014853. Unchr_dom_Cys-rich.
IPR032361. VWA_N2.
IPR012011. VWF.
IPR002035. VWF_A.
IPR001007. VWF_dom.
IPR001846. VWF_type-D.
[Graphical view]
PANTHERiPTHR11339:SF259. PTHR11339:SF259. 4 hits.
PfamiPF08742. C8. 4 hits.
PF01826. TIL. 5 hits.
PF00092. VWA. 3 hits.
PF16164. VWA_N2. 1 hit.
PF00093. VWC. 3 hits.
PF00094. VWD. 4 hits.
[Graphical view]
SMARTiSM00832. C8. 4 hits.
SM00041. CT. 1 hit.
SM00327. VWA. 3 hits.
SM00214. VWC. 5 hits.
SM00215. VWC_out. 2 hits.
SM00216. VWD. 4 hits.
[Graphical view]
SUPFAMiSSF53300. SSF53300. 3 hits.
SSF57567. SSF57567. 5 hits.
PROSITEiPS01185. CTCK_1. 1 hit.
PS01225. CTCK_2. 1 hit.
PS50234. VWFA. 3 hits.
PS01208. VWFC_1. 3 hits.
PS50184. VWFC_2. 3 hits.
PS51233. VWFD. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiVWF_HUMAN
AccessioniPrimary (citable) accession number: P04275
Secondary accession number(s): Q8TCE8, Q99806
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 1987
Last sequence update: January 11, 2011
Last modified: November 30, 2016
This is version 221 of the entry and version 4 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

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.