Reactome | VWF I1568N (764-1605) [extracellular region]

VWF I1568N (764-1605) [extracellular region]

Stable Identifier

R-HSA-9852790

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

extracellular region

Synonyms

von Willebrand factor I1568N (764-1605), vWF I1568N

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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)
    - Enhanced cleavage of VWF variant by ADAMTS13 (Homo sapiens)
      - ADAMTS13 cleaves VWF variant multimer (Homo sapiens)
        
        Collagen type I fibril:cleaved VWF variant multimer [extracellular region] (Homo sapiens)
        
        Cleaved VWF variants with increased susceptibility to proteolysis [extracellular region] (Homo sapiens)
        
        Cleaved VWF I1568N multimer [extracellular region] (Homo sapiens)
        
        VWF I1568N multimer:VWF I1568N (764-1605) [extracellular region] (Homo sapiens)
        
        VWF I1568N (764-1605) [extracellular region] (Homo sapiens)

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 VWF

COSMIC (genes):VWF VWF

CTD Gene:7450 VWF

dbSNP Gene:7450 VWF

ENSEMBL:ENSG00000110799 VWF

ENSEMBL_homo_sapiens_GENE:ENSG00000110799.14 VWF

HGNC:12726 VWF

KEGG Gene (Homo sapiens):7450 VWF

Monarch:7450 VWF

NCBI Gene:7450 VWF

OMIM:613160 VWF

UCSC:P04275 VWF

Reference Transcript

RefSeq:NM_000552.4 VWF

Other Identifiers

11724540_a_at

11724541_s_at

11747176_a_at

11751779_a_at

11752216_a_at

16760257

17123028

17123030

17123032

202112_PM_at

202112_at

233980_PM_s_at

233980_s_at

3441686

3441687

3441688

3441689

3441691

3441693

3441695

3441696

3441699

3441700

3441701

3441702

3441705

3441706

3441709

3441711

3441712

3441715

3441716

3441719

3441720

3441721

3441724

3441725

3441726

3441727

3441729

3441730

3441731

3441732

3441735

3441736

3441740

3441741

3441742

3441744

3441745

3441746

3441747

3441748

3441749

3441753

3441754

3441759

3441763

3441764

3441766

3441767

3441768

3441769

3441776

3441778

3441779

3441780

3441787

3441788

3441791

3441792

3441793

3441799

3441805

3441807

3441808

3441809

3951539

3951540

3951542

3951543

3951545

3951548

3951549

3951550

3951551

3951555

3951556

3951557

3951558

3951560

3951561

3951562

3951564

48871_at

607_s_at

7450

7960464

A_21_P0012280

A_23_P105562

A_32_P150382

GE59658

GO:0002020

GO:0005178

GO:0005198

GO:0005201

GO:0005515

GO:0005518

GO:0005576

GO:0005615

GO:0005783

GO:0007155

GO:0007596

GO:0007599

GO:0009611

GO:0019865

GO:0023052

GO:0030168

GO:0030312

GO:0031012

GO:0031091

GO:0031093

GO:0031410

GO:0031589

GO:0033093

GO:0042060

GO:0042802

GO:0043226

GO:0051087

GO:0062023

GO:0070062

GO:1902533

HMNXSV003045470

Hs.110802.1.A1_3p_a_at

ILMN_1752755

M10321_s_at

PH_hs_0025809

TC12001130.hg

TC22001197.hg

g9257255_3p_at

Participates

as a component of

VWF I1568N multimer:VWF I1568N (764-1605) [extracellular region] (Homo sapiens)

Other forms of this molecule

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

VWF Q1402P (764-2813) [extracellular region]

VWF S1394F (764-2813) [extracellular region]

VWF S1387I (764-2813) [extracellular region]

VWF S1358N (764-2813) [extracellular region]

VWF G1579R (764-1605) [extracellular region]

VWF C1099P (764-1605) [extracellular region]

VWF G1631D (1606-2813) [extracellular region]

VWF Y1584C (764-1605) [extracellular region]

VWF I1568N (764-2813) [extracellular region]

VWF C1099P (764-2813) [extracellular region]

VWF G1631D (764-2813) [extracellular region]

VWF Y1584C (764-2813) [extracellular region]

VWF G1579R (764-2813) [extracellular region]

VWF (1606-2813) [extracellular region]

VWF(764-1605) [extracellular region]

VWF W1745C (764-2813) [extracellular region]

VWF H1786D (764-2813) [extracellular region]

VWF S1783A (764-2813) [extracellular region]

VWF S1731T (764-2813) [extracellular region]

VWF K1794E (764-2813) [extracellular region]

VWF S1731L (764-2813) [extracellular region]

VWF L1733P (764-2813) [extracellular region]

VWF(764-2813) [extracellular region]

VWF(23-763) [extracellular region]

Modified Residues

Name

L-isoleucine 1568 replaced with L-asparagine

Coordinate

1568

PsiMod

L-asparagine residue [MOD:00012]

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

L-isoleucine removal [MOD:01640]

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

Disease

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

Cross References

RefSeq

NP_000543.2

OpenTargets

ENSG00000110799

GeneCards

P04275

HPA

ENSG00000110799-VWF

ZINC target

P04275

Ensembl

ENST00000261405, ENSG00000110799, ENSP00000261405

PRO

P04275

Pharos - Targets

P04275

Orphanet

15714

PDB

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

Interactors (6)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P04275 VWF	20	VWF(23-763) [platelet alpha granule lumen] (R-HSA-114662) VWF Q1402P (764-2813) [extracellular region] (R-HSA-9823711) VWF S1394F (764-2813) [extracellular region] (R-HSA-9823696) VWF S1387I (764-2813) [extracellular region] (R-HSA-9823697) VWF S1358N (764-2813) [extracellular region] (R-HSA-9823703) VWF G1579R (764-1605) [extracellular region] (R-HSA-9852786) VWF C1099P (764-1605) [extracellular region] (R-HSA-9852778) VWF I1568N (764-1605) [extracellular region] (R-HSA-9852790) VWF G1631D (1606-2813) [extracellular region] (R-HSA-9852788) VWF Y1584C (764-1605) [extracellular region] (R-HSA-9852765) VWF I1568N (764-2813) [extracellular region] (R-HSA-9844203) VWF C1099P (764-2813) [extracellular region] (R-HSA-9844221) VWF G1631D (764-2813) [extracellular region] (R-HSA-9844230) VWF Y1584C (764-2813) [extracellular region] (R-HSA-9844202) VWF G1579R (764-2813) [extracellular region] (R-HSA-9844214) VWF (1606-2813) [extracellular region] (R-HSA-9822534) VWF(764-1605) [extracellular region] (R-HSA-9822545) VWF W1745C (764-2813) [extracellular region] (R-HSA-9823611) VWF H1786D (764-2813) [extracellular region] (R-HSA-9823634) VWF S1783A (764-2813) [extracellular region] (R-HSA-9823588)	0.868	21
UniProt:Q76LX8 ADAMTS13	7	ADAMTS13 [endoplasmic reticulum lumen] (R-HSA-5173292) glc-fuc-ADAMTS13 [endoplasmic reticulum lumen] (R-HSA-5172961) O-fuc-ADAMTS13 [endoplasmic reticulum lumen] (R-HSA-5173286) ADAMTS13 P475S [extracellular region] (R-HSA-9824387) ADAMTS13 Q449* [extracellular region] (R-HSA-9824391) ADAMTS13 A250V [extracellular region] (R-HSA-9824393) glc-fuc-ADAMTS13 [extracellular region] (R-HSA-9822541)	0.789	19
UniProt:P07359 GP1BA	6	GP1BA G249S [plasma membrane] (R-HSA-9844280) GP1BA G249V [plasma membrane] (R-HSA-9844257) GP1BA M255V [plasma membrane] (R-HSA-9844240) GP1BA [plasma membrane] (R-HSA-55861) GP1BA D251Y [plasma membrane] (R-HSA-9844197) GP1BA W246L [plasma membrane] (R-HSA-9844258)	0.623	2
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:P00451-PRO_0000002967 F8			0.544	2
UniProt:Q96CV9 OPTN	6	OPTN [recycling endosome membrane] (R-HSA-8854141) p-S177-OPTN [nucleoplasm] (R-HSA-2562595) p-S177-OPTN [cytosol] (R-HSA-2562525) OPTN [Golgi membrane] (R-HSA-2161111) OPTN [cytosol] (R-HSA-9687907) p-S177,S473,S513-OPTN [cytosol] (R-HSA-9687840)	0.454	2

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