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Details on Person UniProt:P00451 F8
| Class:Id | ReferenceGeneProduct:54602 |
|---|---|
| _chainChangeLog | signal peptide:1-19 added on Fri February 6 2015;chain:20-2351 added on Fri February 6 2015;chain:20-1332 added on Fri February 6 2015;chain:20-759 added on Fri February 6 2015;chain:760-1332 added on Fri February 6 2015;chain:1668-2351 added on Fri February 6 2015 |
| _displayName | UniProt:P00451 F8 |
| _timestamp | 2024-11-03 20:00:51 |
| chain | signal peptide:1-19 chain:20-2351 chain:20-1332 chain:20-759 chain:760-1332 chain:1668-2351 |
| checksum | 75FB6A2955C74CB0 |
| comment | FUNCTION Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa.SUBUNIT Interacts with VWF/vWF. vWF binding is essential for the stabilization of F8 in circulation.INTERACTION Domain F5/8 type C 2 is responsible for phospholipid-binding and essential for factor VIII activity.PTM Sulfation on Tyr-1699 is essential for binding vWF.PTM Proteolytically cleaved by cathepsin CTSG to produce a partially activated form.DISEASE The disease is caused by variants affecting the gene represented in this entry. Of particular interest for the understanding of the function of F8 is the category of CRM (cross-reacting material) positive patients (approximately 5%) that have considerable amount of F8 in their plasma (at least 30% of normal), but the protein is non-functional; i.e. the F8 activity is much less than the plasma protein level. CRM-reduced is another category of patients in which the F8C antigen and activity are reduced to approximately the same level. Most mutations are CRM negative, and probably affect the folding and stability of the protein.DISEASE The disease is caused by variants affecting the gene represented in this entry.PHARMACEUTICAL Available under the names Kogenate (Bayer) and Recombinate (Baxter and American Home Products). Used to treat hemophilia A.SIMILARITY Belongs to the multicopper oxidase family.ONLINE INFORMATION Factor VIII entry |
| description | recommendedName: Coagulation factor VIII alternativeName: Antihemophilic factor shortName: AHF alternativeName: Procoagulant component component recommendedName: Factor VIIIa heavy chain, 200 kDa isoform /component component recommendedName: Factor VIIIa heavy chain, 92 kDa isoform /component component recommendedName: Factor VIII B chain /component component recommendedName: Factor VIIIa light chain /component |
| geneName | F8 F8C |
| identifier | P00451 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acute phase Alternative splicing Blood coagulation Calcium Direct protein sequencing Disease variant Disulfide bond Glycoprotein Hemophilia Hemostasis Metal-binding Pharmaceutical Proteomics identification Reference proteome Repeat Secreted Signal Sulfation Thrombophilia |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | F8 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8990112] ENSEMBL:ENSG00000185010 F8 [Homo sapiens] |
| secondaryIdentifier | FA8_HUMAN Q14286 Q5HY69 |
| sequenceLength | 2351 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8971916] UniProt:P00451-1 F8 [Homo sapiens] [ReferenceIsoform:8971917] UniProt:P00451-2 F8 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:54601] F8 precursor [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:114591] Coagulation factor VIII precursor [platelet alpha granule lumen] [Homo sapiens] [EntityWithAccessionedSequence:158121] F8(20-391) [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:158144] F8(392-759) [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:158178] F8(1668-1708) [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:158199] F8(392-759) [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:158250] F8(20-1332) [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:158271] F8(1709-2351) [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:158290] F8(20-391) [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:158299] F8(1668-2351) [extracellular region] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:9661935] glycine 720 replaced with L-aspartic acid [ReplacedResidue:9661940] L-arginine 2326 replaced with L-leucine [ReplacedResidue:9661942] L-cysteine 348 replaced with L-arginine [ReplacedResidue:9661943] L-arginine 612 replaced with L-cysteine [ReplacedResidue:9661947] L-glutamic acid 600 replaced with L-glutamine [ReplacedResidue:9661949] L-methionine 633 replaced with L-threonine [ReplacedResidue:9661953] L-asparagine 601 replaced with L-histidine [ReplacedResidue:9661957] L-serine 603 replaced with L-cysteine [ReplacedResidue:9661962] L-asparagine 601 replaced with L-aspartic acid [ReplacedResidue:9661963] L-asparagine 637 replaced with L-serine |
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No pathways have been reviewed or authored by UniProt:P00451 F8 (54602)
