Reactome | VWF S1783A (764-2813) [extracellular region]

VWF S1783A (764-2813) [extracellular region]

Stable Identifier

R-HSA-9823588

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

extracellular region

Synonyms

vWF S1783A, von Willebrand factor

Icon

Locations in the PathwayBrowser

Expand all

Literature References

PubMed ID	Title	Journal	Year
19687512	Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor Gill, S, McKinnon, TA, Mellars, G, Sutherland, M, Riddell, AF, Brown, SA, Laffan, MA, Gomez, K, Millar, CM	Blood	2009

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 S1783A 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 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 Q1402P (764-2813) [extracellular region]

VWF(23-763) [platelet alpha granule lumen]

Modified Residues

Name

L-serine 1783 replaced with L-alanine

Coordinate

1783

PsiMod

L-alanine residue [MOD:00010]

A protein modification that effectively converts a source amino acid residue to an L-alanine.

L-serine removal [MOD:01646]

A protein modification that effectively removes or replaces an L-serine.

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

Cite Us!