Reactome | VWF S1731L (764-2813) [extracellular region]

VWF S1731L (764-2813) [extracellular region]

Stable Identifier

R-HSA-9823681

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

extracellular region

Synonyms

vWF S1731L, von Willebrand factor

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Locations in the PathwayBrowser

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Literature References

PubMed ID	Title	Journal	Year
35104900	Novel Likely Pathogenic Variant in the A3 Domain of von Willebrand Factor Leading to a Collagen-Binding Defect Zieger, B, Glonnegger, H, Boeckelmann, D, Fels, S, Büchsel, M	Hamostaseologie	2022

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 S1731L 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 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 Q1402P (764-2813) [extracellular region]

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

Modified Residues

Name

L-serine 1731 replaced with L-leucine

Coordinate

1731

PsiMod

L-serine removal [MOD:01646]

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

L-leucine residue [MOD:00020]

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

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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