Entity Details

Primary name FA8_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP00451
EntryNameFA8_HUMAN
FullNameCoagulation factor VIII
TaxID9606
Evidenceevidence at protein level
Length2351
SequenceStatuscomplete
DateCreated1986-07-21
DateModified2021-06-02

Ontological Relatives

GenesF8

GO terms

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GOName
GO:0002576 platelet degranulation
GO:0005507 copper ion binding
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0005796 Golgi lumen
GO:0005886 plasma membrane
GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport
GO:0006953 acute-phase response
GO:0007596 blood coagulation
GO:0007597 blood coagulation, intrinsic pathway
GO:0016491 oxidoreductase activity
GO:0030134 COPII-coated ER to Golgi transport vesicle
GO:0031093 platelet alpha granule lumen
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0048208 COPII vesicle coating
GO:2000267 negative regulation of blood coagulation, intrinsic pathway

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000421 Coagulation factor 5/8 C-terminal domainDomainDomain
IPR001117 Multicopper oxidase, type 1DomainDomain
IPR008972 CupredoxinFamilyHomologous superfamily
IPR008979 Galactose-binding-like domain superfamilyFamilyHomologous superfamily
IPR011706 Multicopper oxidase, C-terminalDomainDomain
IPR011707 Multicopper oxidase, N-termianlDomainDomain
IPR024715 Coagulation factor 5/8-likeFamilyFamily
IPR033138 Multicopper oxidases, conserved siteSiteConserved site

Diseases

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Disease IDSourceNameDescription
306700 OMIMHemophilia A (HEMA)A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery. 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.

Drugs

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DrugNameSourceType
DB00055 Drotrecogin alfaDrugbankbiotech
DB00100 Coagulation Factor IX (Recombinant)Drugbankbiotech
DB06050 TB-402Drugbankbiotech
DB09130 CopperDrugbanksmall molecule
DB11300 ThrombinDrugbankbiotech
DB11312 Protein CDrugbankbiotech
DB11571 Human thrombinDrugbankbiotech
DB11572 Thrombin alfaDrugbankbiotech
DB12872 Vonicog AlfaDrugbankbiotech
DB13133 Von Willebrand Factor HumanDrugbankbiotech
DB13151 Anti-inhibitor coagulant complexDrugbankbiotech
DB13152 Coagulation Factor IX HumanDrugbankbiotech
DB13884 Albutrepenonacog alfaDrugbankbiotech
DB13933 Nonacog beta pegolDrugbankbiotech
DB14700 Damoctocog alfa pegolDrugbankbiotech