VWF_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
VWF
, F8VWF
Protein names and data:
VWF_HUMAN
, von Willebrand factor; vWF; von Willebrand antigen 2
, von Willebrand antigen II; Flags: Precursor
Lenght: 2813 a.a.
Mass: 309265 Da
fasta formatted sequence
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.
Disease:
( OMIM:
193400
277480
613160
613554
)
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. 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Secreted. Secreted, extracellular space, extracellular matrix. Note=Localized to storage granules.
Tissue specificity:
Plasma.
Genetic variants
273 - 273
R -> W (in VWD1 and VWD3; defect in secretion and formation of multimers; dbSNP:rs61753997). VAR_010242
61753997
318 - 318
N -> K (in dbSNP:rs1800387). VAR_057023
1800387
377 - 377
W -> C (in VWD3). VAR_005782
471 - 471
V -> I (in dbSNP:rs1800377). VAR_060591
1800377
484 - 484
H -> R (in dbSNP:rs1800378). VAR_024553
1800378
528 - 528
N -> S (in VWD2). VAR_005783
550 - 550
G -> R (in VWD2). VAR_005784
740 - 740
M -> I (in dbSNP:rs16932374). VAR_057024
16932374
788 - 788
C -> Y (in VWD2). VAR_009141
789 - 789
T -> A (in dbSNP:rs1063856). VAR_005785
1063856
791 - 791
T -> M (in VWD2; Normandy type). VAR_005786
816 - 816
R -> W (in VWD2; Normandy type). VAR_005787
852 - 852
Q -> R (in dbSNP:rs216321). VAR_005788
216321
854 - 854
R -> Q (in VWD2; Normandy type; dbSNP:rs41276738). VAR_005789
41276738
857 - 857
N -> D. VAR_005790
885 - 885
F -> S (in dbSNP:rs11064002). VAR_057025
11064002
1060 - 1060
C -> R (in VWD2). VAR_028446
1149 - 1149
C -> R (in VWD1; reduced secretion of homodimers and heterodimers with wild type VWD and increased degradation by the proteasome). VAR_064925
1266 - 1266
P -> L (in VWD2). VAR_005791
1268 - 1268
H -> D (in VWD2). VAR_005792
1272 - 1272
C -> F (in VWD2; subtype 2A). VAR_067340
1272 - 1272
C -> R (in VWD2). VAR_005793
1306 - 1306
R -> W (in VWD2). VAR_005794
1308 - 1308
R -> C (in VWD2). VAR_005795
1313 - 1313
W -> C (in VWD2). VAR_005796
1314 - 1314
V -> L (in VWD2). VAR_005797
1316 - 1316
V -> M (in VWD2). VAR_005798
1318 - 1318
V -> L (in VWD2). VAR_005799
1324 - 1324
G -> S (in VWD2). VAR_005800
1341 - 1341
R -> Q (in VWD2). VAR_005801
1374 - 1374
R -> C (in VWD2). VAR_005802
1374 - 1374
R -> H (in VWD2). VAR_005803
1381 - 1381
T -> A (in dbSNP:rs216311). VAR_005804
216311
1399 - 1399
R -> H (in dbSNP:rs216312). VAR_005805
216312
1460 - 1460
L -> V (in VWD2). VAR_005806
1461 - 1461
A -> V (in VWD2). VAR_005807
1472 - 1472
D -> H (in dbSNP:rs1800383). VAR_029656
1800383
1514 - 1514
F -> C (in VWD2). VAR_005808
1540 - 1540
L -> P (in VWD2). VAR_005809
1565 - 1565
V -> L (in dbSNP:rs1800385). VAR_014630
1800385
1570 - 1570
Y -> C (in a breast cancer sample; somatic mutation). VAR_036276
1584 - 1584
Y -> C (exhibits increased in susceptibility to proteolysis by ADAMTS13; dbSNP:rs1800386). VAR_005810
1800386
1597 - 1597
R -> G (in VWD2). VAR_005811
1597 - 1597
R -> Q (in VWD2). VAR_005812
1597 - 1597
R -> W (in VWD2). VAR_005813
1607 - 1607
V -> D (in VWD2). VAR_005814
1609 - 1609
G -> R (in VWD2). VAR_005815
1613 - 1613
S -> P (in VWD2). VAR_005816
1628 - 1628
I -> T (in VWD2). VAR_005817
1638 - 1638
E -> K (in VWD2). VAR_005818
1648 - 1648
P -> S (in VWD2). VAR_005819
1665 - 1665
V -> E (in VWD2). VAR_005820
2063 - 2063
P -> S (in VWD3; dbSNP:rs61750615). VAR_009142
61750615
2178 - 2178
A -> S (in dbSNP:rs34230288). VAR_057026
34230288
2185 - 2185
R -> Q (in dbSNP:rs2229446). VAR_057027
2229446
2362 - 2362
C -> F (in VWD3). VAR_009143
2546 - 2546
N -> Y (in VWD3). VAR_009144
2705 - 2705
G -> R (in dbSNP:rs7962217). VAR_057028
7962217
2739 - 2739
C -> Y (in VWD3). VAR_005821
2773 - 2773
C -> R (in VWD2). VAR_005822
Database cross-references
UniProt:
P04275
Ensembl:
ENST00000261405
MIM:
193400
MIM:
277480
MIM:
613160
MIM:
613554
neXtProt:
NX_P04275
Antibodypedia:
P04275
(may not find the protein thus also not any antibody)
Local full text data:
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