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Details on Person UniProt:P04275 VWF

Class:IdReferenceGeneProduct:67272
_chainChangeLogsignal peptide:1-22 added on Fri February 6 2015;chain:23-763 added on Fri February 6 2015;chain:764-2813 added on Fri February 6 2015
_displayNameUniProt:P04275 VWF
_timestamp2024-11-03 19:39:36
chainsignal peptide:1-22
chain:23-763
chain:764-2813
checksumD5C1C78360917C29
commentFUNCTION 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
descriptionrecommendedName: von Willebrand factor shortName: vWF component recommendedName: von Willebrand antigen 2 alternativeName: von Willebrand antigen II /component
geneNameVWF
F8VWF
identifierP04275
isSequenceChangedFALSE
keyword3D-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:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
nameVWF
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8957777] ENSEMBL:ENSG00000110799 VWF [Homo sapiens]
secondaryIdentifierVWF_HUMAN
Q8TCE8
Q99806
sequenceLength2813
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:8968617] UniProt:P04275-1 VWF [Homo sapiens]
[ReferenceIsoform:8968618] UniProt:P04275-2 VWF [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:67271] VWF(23-763) [extracellular region] [Homo sapiens]
[EntityWithAccessionedSequence:114662] VWF(23-763) [platelet alpha granule lumen] [Homo sapiens]
[EntityWithAccessionedSequence:139945] VWF(23-763) [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:158327] VWF(764-2813) [extracellular region] [Homo sapiens]
[EntityWithAccessionedSequence:8958383] VWF [extracellular region] [Homo sapiens]
[EntityWithAccessionedSequence:9822534] VWF (1606-2813) [extracellular region] [Homo sapiens]
[EntityWithAccessionedSequence:9822545] VWF(764-1605) [extracellular region] [Homo sapiens]
[EntityWithAccessionedSequence:9823588] VWF S1783A (764-2813) [extracellular region] [Homo sapiens]
[EntityWithAccessionedSequence:9823611] VWF W1745C (764-2813) [extracellular region] [Homo sapiens]
[EntityWithAccessionedSequence:9823615] VWF S1731T (764-2813) [extracellular region] [Homo sapiens]
List all 28 refering instances
(referenceSequence)[ReplacedResidue:9823583] L-serine 1783 replaced with L-alanine
[ReplacedResidue:9823592] L-serine 1731 replaced with L-threonine
[ReplacedResidue:9823602] L-tryptophan 1745 replaced with L-cysteine
[ReplacedResidue:9823635] L-histidine 1786 replaced with L-aspartic acid
[ReplacedResidue:9823659] L-lysine 1794 replaced with L-glutamic acid
[ReplacedResidue:9823682] L-serine 1731 replaced with L-leucine
[ReplacedResidue:9823700] L-serine 1387 replaced with L-isoleucine
[ReplacedResidue:9823702] L-serine 1358 replaced with L-asparagine
[ReplacedResidue:9823704] L-serine 1394 replaced with L-phenylalanine
[ReplacedResidue:9823708] L-glutamine 1402 replaced with L-proline
List all 16 refering instances
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No pathways have been reviewed or authored by UniProt:P04275 VWF (67272)