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Comments and Description Text from UniProtKB
ID:FA8_HUMAN DESCRIPTION: RecName: Full=Coagulation factor VIII; AltName: Full=Antihemophilic factor; Short=AHF; AltName: Full=Procoagulant component; Contains: RecName: Full=Factor VIIIa heavy chain, 200 kDa isoform; Contains: RecName: Full=Factor VIIIa heavy chain, 92 kDa isoform; Contains: RecName: Full=Factor VIII B chain; Contains: RecName: Full=Factor VIIIa light chain; Flags: Precursor; FUNCTION: Factor VIII, along with calcium and phospholipid, acts as a cofactor for factor IXa when it converts factor X to the activated form, factor Xa. SUBUNIT: Interacts with vWF. vWF binding is essential for the stabilization of F8 in circulation. SUBCELLULAR LOCATION: Secreted, extracellular space. DOMAIN: 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. MASS SPECTROMETRY: Mass=1367.6; Method=Electrospray; Range=356- 378; Note=Nonsulfated; Source=PubMed:10368977; MASS SPECTROMETRY: Mass=1407.4; Method=Electrospray; Range=356- 378; Note=Sulfated; Source=PubMed:10368977; MASS SPECTROMETRY: Mass=2975.4; Method=Electrospray; Range=400- 424; Note=Nonsulfated; Source=PubMed:10368977; MASS SPECTROMETRY: Mass=3024; Method=Electrospray; Range=727-752; Note=Nonsulfated; Source=PubMed:10368977; MASS SPECTROMETRY: Mass=3104; Method=Electrospray; Range=727-752; Note=Monosulfated; Source=PubMed:10368977; MASS SPECTROMETRY: Mass=3183.5; Method=Electrospray; Range=727- 752; Note=Disulfated; Source=PubMed:10368977; MASS SPECTROMETRY: Mass=3262.5; Method=Electrospray; Range=727- 752; Note=Trisulfated; Source=PubMed:10368977; MASS SPECTROMETRY: Mass=2460.9; Method=Electrospray; Range=1672- 1692; Note=Nonsulfated; Source=PubMed:10368977; MASS SPECTROMETRY: Mass=2540.7; Method=Electrospray; Range=1672- 1692; Note=Sulfated; Source=PubMed:10368977; MASS SPECTROMETRY: Mass=2000.7; Method=Electrospray; Range=1691- 1708; Note=Nonsulfated; Source=PubMed:10368977; MASS SPECTROMETRY: Mass=2080.7; Method=Electrospray; Range=1691- 1708; Note=Sulfated; Source=PubMed:10368977; DISEASE: Defects in F8 are the cause of hemophilia A (HEMA) [MIM:306700]. 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. Note=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. 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. SIMILARITY: Contains 3 F5/8 type A domains. SIMILARITY: Contains 2 F5/8 type C domains. SIMILARITY: Contains 6 plastocyanin-like domains. WEB RESOURCE: Name=Wikipedia; Note=Factor VIII entry; URL="http://en.wikipedia.org/wiki/Factor_VIII"; WEB RESOURCE: Name=HAMSters; Note=Factor VIII mutation db; URL="http://hadb.org.uk/WebPages/Main/main.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F8"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f8/";
Protein Domain and Structure Information
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