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VWF Q1402P (764-2813) [extracellular region]
Stable Identifier
R-HSA-9823711
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
extracellular region
Synonyms
vWF Q1402P, von Willebrand factor
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of hemostasis (Homo sapiens)
Defects of platelet adhesion to exposed collagen (Homo sapiens)
Defective binding of VWF variant to GPIb:IX:V (Homo sapiens)
VWF variant does not bind GPIb:IX:V (Homo sapiens)
VWF variant multimer:collagen type I fibril [extracellular region] (Homo sapiens)
VWF A1 domain variant multimer [extracellular region] (Homo sapiens)
VWF Q1402P multimer [extracellular region] (Homo sapiens)
VWF Q1402P (764-2813) [extracellular region] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
23496210
Variability in platelet- and collagen-binding defects in type 2M von Willebrand disease
Shapiro, AD
,
Larsen, DM
,
Flood, VH
,
Gill, JC
,
Haberichter, SL
Haemophilia
2013
External Reference Information
External Reference
UniProt:P04275 VWF
Gene Names
VWF, F8VWF
Chain
signal peptide:1-22, chain:23-763, chain:764-2813
Reference Genes
COSMIC (genes):VWF P042752
dbSNP Gene:7450 P042752
ENSEMBL:ENSG00000110799 VWF
Participates
as a component of
VWF Q1402P multimer [extracellular region] (Homo sapiens)
Other forms of this molecule
VWF(23-763) [extracellular region]
VWF(764-2813) [extracellular region]
VWF L1733P (764-2813) [extracellular region]
VWF S1731L (764-2813) [extracellular region]
VWF K1794E (764-2813) [extracellular region]
VWF S1731T (764-2813) [extracellular region]
VWF S1783A (764-2813) [extracellular region]
VWF H1786D (764-2813) [extracellular region]
VWF W1745C (764-2813) [extracellular region]
VWF(764-1605) [extracellular region]
VWF (1606-2813) [extracellular region]
VWF G1579R (764-2813) [extracellular region]
VWF Y1584C (764-2813) [extracellular region]
VWF G1631D (764-2813) [extracellular region]
VWF C1099P (764-2813) [extracellular region]
VWF I1568N (764-2813) [extracellular region]
VWF Y1584C (764-1605) [extracellular region]
VWF G1631D (1606-2813) [extracellular region]
VWF I1568N (764-1605) [extracellular region]
VWF C1099P (764-1605) [extracellular region]
VWF G1579R (764-1605) [extracellular region]
VWF S1358N (764-2813) [extracellular region]
VWF S1387I (764-2813) [extracellular region]
VWF S1394F (764-2813) [extracellular region]
VWF(23-763) [platelet alpha granule lumen]
Modified Residues
Name
L-glutamine 1402 replaced with L-proline
Coordinate
1402
PsiMod
L-glutamine removal [MOD:01637]
A protein modification that effectively removes or replaces an L-glutamine.
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
Disease
Name
Identifier
Synonyms
blood platelet disease
DOID:2218
platelet disorder, Thrombocytopathy
Interactors (6)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P04275 VWF
20
VWF(23-763) [extracellular region]
(R-HSA-67271)
VWF(764-2813) [extracellular region]
(R-HSA-158327)
VWF L1733P (764-2813) [extracellular region]
(R-HSA-9824345)
VWF S1731L (764-2813) [extracellular region]
(R-HSA-9823681)
VWF K1794E (764-2813) [extracellular region]
(R-HSA-9823657)
VWF S1731T (764-2813) [extracellular region]
(R-HSA-9823615)
VWF S1783A (764-2813) [extracellular region]
(R-HSA-9823588)
VWF H1786D (764-2813) [extracellular region]
(R-HSA-9823634)
VWF W1745C (764-2813) [extracellular region]
(R-HSA-9823611)
VWF(764-1605) [extracellular region]
(R-HSA-9822545)
VWF (1606-2813) [extracellular region]
(R-HSA-9822534)
VWF G1579R (764-2813) [extracellular region]
(R-HSA-9844214)
VWF Y1584C (764-2813) [extracellular region]
(R-HSA-9844202)
VWF G1631D (764-2813) [extracellular region]
(R-HSA-9844230)
VWF C1099P (764-2813) [extracellular region]
(R-HSA-9844221)
VWF I1568N (764-2813) [extracellular region]
(R-HSA-9844203)
VWF Y1584C (764-1605) [extracellular region]
(R-HSA-9852765)
VWF G1631D (1606-2813) [extracellular region]
(R-HSA-9852788)
VWF I1568N (764-1605) [extracellular region]
(R-HSA-9852790)
VWF C1099P (764-1605) [extracellular region]
(R-HSA-9852778)
0.868
21
UniProt:Q76LX8 ADAMTS13
7
glc-fuc-ADAMTS13 [extracellular region]
(R-HSA-9822541)
ADAMTS13 A250V [extracellular region]
(R-HSA-9824393)
ADAMTS13 Q449* [extracellular region]
(R-HSA-9824391)
ADAMTS13 P475S [extracellular region]
(R-HSA-9824387)
O-fuc-ADAMTS13 [endoplasmic reticulum lumen]
(R-HSA-5173286)
glc-fuc-ADAMTS13 [endoplasmic reticulum lumen]
(R-HSA-5172961)
ADAMTS13 [endoplasmic reticulum lumen]
(R-HSA-5173292)
0.789
19
UniProt:P00451 F8
20
Factor VIII precursor [extracellular region]
(R-HSA-54601)
Coagulation factor VIII precursor [platelet alpha granule lumen]
(R-HSA-114591)
F8(392-759) D579A [plasma membrane]
(R-HSA-9668364)
F8(392-759) V578A [plasma membrane]
(R-HSA-9668367)
F8(392-759) R546W [plasma membrane]
(R-HSA-9668360)
F8(392-759) S577F [plasma membrane]
(R-HSA-9668362)
F8(392-759) I585T [plasma membrane]
(R-HSA-9668357)
F8 N637S [endoplasmic reticulum lumen]
(R-HSA-9661996)
F8 G2013R [endoplasmic reticulum lumen]
(R-HSA-9666350)
F8 W604R [endoplasmic reticulum lumen]
(R-HSA-9661993)
F8 R1126W [endoplasmic reticulum lumen]
(R-HSA-9662699)
F8 R2326L [endoplasmic reticulum lumen]
(R-HSA-9661995)
F8 P947R [endoplasmic reticulum lumen]
(R-HSA-9662692)
F8 H1066Y [endoplasmic reticulum lumen]
(R-HSA-9662693)
F8 S603G [endoplasmic reticulum lumen]
(R-HSA-9661989)
F8 E1057K [endoplasmic reticulum lumen]
(R-HSA-9662694)
F8 E600D [endoplasmic reticulum lumen]
(R-HSA-9661991)
F8 W604C [endoplasmic reticulum lumen]
(R-HSA-9661984)
F8 D845E [endoplasmic reticulum lumen]
(R-HSA-9662689)
F8 G720S [endoplasmic reticulum lumen]
(R-HSA-9661985)
0.623
2
UniProt:P07359 GP1BA
6
GP1BA [plasma membrane]
(R-HSA-55861)
GP1BA D251Y [plasma membrane]
(R-HSA-9844197)
GP1BA W246L [plasma membrane]
(R-HSA-9844258)
GP1BA M255V [plasma membrane]
(R-HSA-9844240)
GP1BA G249V [plasma membrane]
(R-HSA-9844257)
GP1BA G249S [plasma membrane]
(R-HSA-9844280)
0.623
2
UniProt:P00451-PRO_0000002967 F8
0.544
2
UniProt:Q96CV9 OPTN
6
p-S177,S473,S513-OPTN [cytosol]
(R-HSA-9687840)
OPTN [cytosol]
(R-HSA-9687907)
p-S177-OPTN [cytosol]
(R-HSA-2562525)
p-S177-OPTN [nucleoplasm]
(R-HSA-2562595)
OPTN [Golgi membrane]
(R-HSA-2161111)
OPTN [recycling endosome membrane]
(R-HSA-8854141)
0.454
2
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