Reactome | UniProt:P04275 VWF

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UniProt:P04275 VWF Show undefined attributes

chain	signal peptide:1-22 chain:23-763 chain:764-2813
checksum	D5C1C78360917C29
comment	FUNCTION Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma.SUBUNIT Multimeric. Interacts with F8.INTERACTION Localized to storage granules.ALTERNATIVE PRODUCTS Plasma.DOMAIN The von Willebrand antigen 2 is required for multimerization of vWF and for its targeting to storage granules.PTM All cysteine residues are involved in intrachain or interchain disulfide bonds.PTM N- and O-glycosylated.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SEQUENCE CAUTION Contaminating sequence. Sequence of unknown origin in the N-terminal part.ONLINE INFORMATION von Willebrand factor (vWF) mutation dbONLINE INFORMATION Von Willebrand factor entry
crossReference	[DatabaseIdentifier:11483173] ENSEMBL:ENSG00000110799 [DatabaseIdentifier:12816494] ZINC target:P04275 [DatabaseIdentifier:12813096] ZINC - Substances:VWF_HUMAN [DatabaseIdentifier:12293404] Pharos - Targets:P04275 [DatabaseIdentifier:12276567] PRO:P04275 [DatabaseIdentifier:12229525] PDB:3HXQ [DatabaseIdentifier:12229526] PDB:7PMV [DatabaseIdentifier:12229524] PDB:3HXO [DatabaseIdentifier:12220090] PDB:1U0N [DatabaseIdentifier:12229531] PDB:7WN3 [DatabaseIdentifier:12180847] PDB:1OAK [DatabaseIdentifier:12229530] PDB:6FWN [DatabaseIdentifier:12229527] PDB:3ZQK [DatabaseIdentifier:12229528] PDB:7WQT [DatabaseIdentifier:12229529] PDB:7WN4 [DatabaseIdentifier:12229506] PDB:7WPQ [DatabaseIdentifier:12229508] PDB:3PPX [DatabaseIdentifier:12229523] PDB:2MHP [DatabaseIdentifier:12229513] PDB:1AO3 [DatabaseIdentifier:12229517] PDB:8D3D [DatabaseIdentifier:12181083] PDB:7KWO [DatabaseIdentifier:12229502] PDB:7WPS [DatabaseIdentifier:12229520] PDB:7F49 [DatabaseIdentifier:12229504] PDB:1AUQ [DatabaseIdentifier:12229519] PDB:1IJK [DatabaseIdentifier:12220092] PDB:1SQ0 [DatabaseIdentifier:12229494] PDB:3GXB [DatabaseIdentifier:12180713] PDB:2ADF [DatabaseIdentifier:12229512] PDB:1ATZ [DatabaseIdentifier:12229521] PDB:7WN6 [DatabaseIdentifier:12229501] PDB:7WPR [DatabaseIdentifier:12229522] PDB:2MHQ [DatabaseIdentifier:12229516] PDB:1IJB [DatabaseIdentifier:12220083] PDB:4C2B [DatabaseIdentifier:12229495] PDB:6N29 [DatabaseIdentifier:12229497] PDB:7EOW [DatabaseIdentifier:12180813] PDB:1FNS [DatabaseIdentifier:12229503] PDB:7WPP [DatabaseIdentifier:12229511] PDB:4DMU [DatabaseIdentifier:12229498] PDB:4C29 [DatabaseIdentifier:12180804] PDB:1FE8 [DatabaseIdentifier:12229505] PDB:3PPV [DatabaseIdentifier:12229518] PDB:7PNF [DatabaseIdentifier:12229515] PDB:8D3C [DatabaseIdentifier:12229510] PDB:1UEX [DatabaseIdentifier:12229507] PDB:3PPW [DatabaseIdentifier:12229514] PDB:4NT5 [DatabaseIdentifier:12229499] PDB:7ZWH [DatabaseIdentifier:12220084] PDB:1M10 [DatabaseIdentifier:12220082] PDB:4C2A [DatabaseIdentifier:12229509] PDB:3PPY [DatabaseIdentifier:12229500] PDB:5BV8 [DatabaseIdentifier:12229496] PDB:7P4N [DatabaseIdentifier:12137054] Orphanet:VWF [DatabaseIdentifier:12133234] OpenTargets:ENSG00000110799 [DatabaseIdentifier:11848545] HPA:ENSG00000110799-VWF [DatabaseIdentifier:11811384] GlyGen:P04275 [DatabaseIdentifier:11795576] GeneCards:VWF [DatabaseIdentifier:11707776] ENSEMBL:ENST00000261405 [DatabaseIdentifier:11585077] ENSEMBL:ENSP00000261405
databaseName	UniProt
dbId	67272
description	recommendedName: von Willebrand factor shortName: vWF component recommendedName: von Willebrand antigen 2 alternativeName: von Willebrand antigen II /component
displayName	UniProt:P04275 VWF
geneName	VWF F8VWF
identifier	P04275
isSequenceChanged	false
keyword	3D-structure Alternative splicing Blood coagulation Cell adhesion Cleavage on pair of basic residues Direct protein sequencing Disease variant Disulfide bond Extracellular matrix Glycoprotein Hemostasis Proteomics identification Reference proteome Repeat Secreted Signal von Willebrand disease
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	VWF
physicalEntity	[EntityWithAccessionedSequence:R-HSA-67271] VWF(23-763) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-158327] VWF(764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-114662] VWF(23-763) [platelet alpha granule lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9824345] VWF L1733P (764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9823681] VWF S1731L (764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9823657] VWF K1794E (764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9823615] VWF S1731T (764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9823588] VWF S1783A (764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9823634] VWF H1786D (764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9823611] VWF W1745C (764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9822545] VWF(764-1605) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9822534] VWF (1606-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9844214] VWF G1579R (764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9844202] VWF Y1584C (764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9844230] VWF G1631D (764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9844221] VWF C1099P (764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9844203] VWF I1568N (764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9852765] VWF Y1584C (764-1605) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9852788] VWF G1631D (1606-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9852790] VWF I1568N (764-1605) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9852778] VWF C1099P (764-1605) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9852786] VWF G1579R (764-1605) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9823703] VWF S1358N (764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9823697] VWF S1387I (764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9823696] VWF S1394F (764-2813) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9823711] VWF Q1402P (764-2813) [extracellular region] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000110799] ENSEMBL:ENSG00000110799 VWF [ReferenceDNASequence:12694626] UCSC:P04275 P042752 [ReferenceDNASequence:12117523] OMIM:613160 P042752 [ReferenceDNASequence:12062472] NCBI Gene:7450 P042752 [ReferenceDNASequence:11978379] Monarch:7450 P042752 [ReferenceDNASequence:11888556] KEGG:hsa:7450 P042752 [ReferenceDNASequence:11827280] HGNC:12726 P042752 [ReferenceDNASequence:11429319] dbSNP Gene:7450 VWF [ReferenceDNASequence:11424571] CTD Gene:7450 P042752 [ReferenceDNASequence:11393371] COSMIC - genes:VWF VWF [ReferenceDNASequence:11348590] BioGPS Gene:7450 P042752
referenceTranscript	[ReferenceRNASequence:12573356] RefSeq:XM_047429501.1 P042752 [ReferenceRNASequence:12573355] RefSeq:NM_000552.5 P042752
schemaClass	ReferenceGeneProduct
secondaryIdentifier	VWF_HUMAN Q8TCE8 Q99806
sequenceLength	2813
species	[Species:48887] Homo sapiens
stId	uniprot:P04275
url	http://purl.uniprot.org/uniprot/P04275

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-67271] VWF(23-763) [extracellular region] [EntityWithAccessionedSequence:R-HSA-158327] VWF(764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-114662] VWF(23-763) [platelet alpha granule lumen] [EntityWithAccessionedSequence:R-HSA-9824345] VWF L1733P (764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9823681] VWF S1731L (764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9823657] VWF K1794E (764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9823615] VWF S1731T (764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9823588] VWF S1783A (764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9823634] VWF H1786D (764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9823611] VWF W1745C (764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9822545] VWF(764-1605) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9822534] VWF (1606-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9844214] VWF G1579R (764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9844202] VWF Y1584C (764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9844230] VWF G1631D (764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9844221] VWF C1099P (764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9844203] VWF I1568N (764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9852765] VWF Y1584C (764-1605) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9852788] VWF G1631D (1606-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9852790] VWF I1568N (764-1605) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9852778] VWF C1099P (764-1605) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9852786] VWF G1579R (764-1605) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9823703] VWF S1358N (764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9823697] VWF S1387I (764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9823696] VWF S1394F (764-2813) [extracellular region] [EntityWithAccessionedSequence:R-HSA-9823711] VWF Q1402P (764-2813) [extracellular region]
(referenceSequence)	[ReplacedResidue:9824346] L-leucine 1733 replaced with L-proline [ReplacedResidue:9823682] L-serine 1731 replaced with L-leucine [ReplacedResidue:9823659] L-lysine 1794 replaced with L-glutamic acid [ReplacedResidue:9823592] L-serine 1731 replaced with L-threonine [ReplacedResidue:9823583] L-serine 1783 replaced with L-alanine [ReplacedResidue:9823635] L-histidine 1786 replaced with L-aspartic acid [ReplacedResidue:9823602] L-tryptophan 1745 replaced with L-cysteine [ReplacedResidue:9844291] glycine 1579 replaced with L-arginine [ReplacedResidue:9844271] L-tyrosine 1584 replaced with L-cysteine [ReplacedResidue:9844215] glycine 1631 replaced with L-aspartic acid [ReplacedResidue:9844235] L-cysteine 1099 replaced with L-proline [ReplacedResidue:9844260] L-isoleucine 1568 replaced with L-asparagine [ReplacedResidue:9823702] L-serine 1358 replaced with L-asparagine [ReplacedResidue:9823700] L-serine 1387 replaced with L-isoleucine [ReplacedResidue:9823704] L-serine 1394 replaced with L-phenylalanine [ReplacedResidue:9823708] L-glutamine 1402 replaced with L-proline
(interactor)	[UndirectedInteraction:11296169] UniProt:P04275 <-> UniProt:P00451-PRO_0000002967 (IntAct) [UndirectedInteraction:11296165] UniProt:P04275 <-> UniProt:P04275 (IntAct) [UndirectedInteraction:11296165] UniProt:P04275 <-> UniProt:P04275 (IntAct) [UndirectedInteraction:11161021] UniProt:P07359 <-> UniProt:P04275 (IntAct) [UndirectedInteraction:11215517] UniProt:Q76LX8 <-> UniProt:P04275 (IntAct) [UndirectedInteraction:11253157] UniProt:Q96CV9 <-> UniProt:P04275 (IntAct) [UndirectedInteraction:11275665] UniProt:P00451 <-> UniProt:P04275 (IntAct)