Reactome | VWF S1387I (764-2813) [extracellular region]

VWF S1387I (764-2813) [extracellular region]

Stable Identifier

R-HSA-9823697

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

extracellular region

Synonyms

vWF S1387I, von Willebrand factor

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Locations in the PathwayBrowser

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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 S1387I multimer [extracellular region] (Homo sapiens)
        
        VWF S1387I (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 Larsen, DM, Haberichter, SL, Gill, JC, Shapiro, AD, Flood, VH	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

BioGPS Gene:7450 P042752

COSMIC (genes):VWF VWF

CTD Gene:7450 P042752

dbSNP Gene:7450 VWF

ENSEMBL:ENSG00000110799 VWF

HGNC:12726 P042752

KEGG:hsa:7450 P042752

Monarch:7450 P042752

NCBI Gene:7450 P042752

OMIM:613160 P042752

UCSC:P04275 P042752

Reference Transcript

Participates

as a component of

VWF S1387I multimer [extracellular region] (Homo sapiens)

Other forms of this molecule

VWF(23-763) [extracellular region]

VWF(764-2813) [extracellular region]

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

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 S1394F (764-2813) [extracellular region]

VWF Q1402P (764-2813) [extracellular region]

Modified Residues

Name

L-serine 1387 replaced with L-isoleucine

Coordinate

1387

PsiMod

L-serine removal [MOD:01646]

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

L-isoleucine residue [MOD:00019]

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

Disease

Name	Identifier	Synonyms
blood platelet disease	DOID:2218	platelet disorder, Thrombocytopathy

Cross References

RefSeq

NP_000543.3, XP_047285457.1

OpenTargets

ENSG00000110799

ENSEMBL

ENST00000261405, ENSG00000110799, ENSP00000261405

Mondo

0000009

ZINC - Substances

VWF_HUMAN

ZINC target

P04275

PRO

P04275

GlyGen

P04275

PDB

1IJB, 7PNF, 1ATZ, 4DMU, 3HXO, 1UEX, 1AO3, 6FWN, 1SQ0, 7PMV, 1OAK, 3ZQK, 2MHQ, 2MHP, 1FE8, 3PPY, 3PPX, 7P4N, 5BV8, 8D3D, 1AUQ, 8D3C, 4C2A, 1FNS, 3HXQ, 3PPW, 1M10, 4NT5, 3PPV, 1IJK, 7F49, 2ADF, 7KWO, 6N29, 4C2B, 4C29, 7EOW, 3GXB, 7ZWH, 1U0N

GeneCards

VWF

HPA

ENSG00000110799-VWF

Pharos - Targets

P04275

Orphanet

VWF

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(23-763) [platelet alpha granule lumen] (R-HSA-114662) 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)	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	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) F8 E600Q [endoplasmic reticulum lumen] (R-HSA-9662015) F8 R2326Q [endoplasmic reticulum lumen] (R-HSA-9661945)	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) OPTN [Golgi membrane] (R-HSA-2161111) p-S177-OPTN [cytosol] (R-HSA-2562525) p-S177-OPTN [nucleoplasm] (R-HSA-2562595) OPTN [recycling endosome membrane] (R-HSA-8854141)	0.454	2

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