MGP Database

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MGP001011

UniProt Annotations

Entry Information
Gene Namecoagulation factor VIII, procoagulant component
Protein EntryFA8_HUMAN
UniProt IDP00451
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P00451-1; Sequence=Displayed; Name=2; Synonyms=F8B; IsoId=P00451-2; Sequence=VSP_042656, VSP_042657;
DiseaseHemophilia 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. {ECO:0000269|PubMed:10215414, ECO:0000269|PubMed:10338101, ECO:0000269|PubMed:10404764, ECO:0000269|PubMed:10408784, ECO:0000269|PubMed:10554831, ECO:0000269|PubMed:10612839, ECO:0000269|PubMed:10691849, ECO:0000269|PubMed:10800171, ECO:0000269|PubMed:10886198, ECO:0000269|PubMed:10896236, ECO:0000269|PubMed:10910910, ECO:0000269|PubMed:10910913, ECO:0000269|PubMed:11298607, ECO:0000269|PubMed:11341489, ECO:0000269|PubMed:11410838, ECO:0000269|PubMed:11442643, ECO:0000269|PubMed:11442647, ECO:0000269|PubMed:11554935, ECO:0000269|PubMed:11748850, ECO:0000269|PubMed:11857744, ECO:0000269|PubMed:11858487, ECO:0000269|PubMed:12195713, ECO:0000269|PubMed:12199686, ECO:0000269|PubMed:12203998, ECO:0000269|PubMed:12325022, ECO:0000269|PubMed:12351418, ECO:0000269|PubMed:12406074, ECO:0000269|PubMed:12614369, ECO:0000269|PubMed:12871415, ECO:0000269|PubMed:12930394, ECO:0000269|PubMed:1301194, ECO:0000269|PubMed:1301932, ECO:0000269|PubMed:1301960, ECO:0000269|PubMed:1349567, ECO:0000269|PubMed:1356412, ECO:0000269|PubMed:15682412, ECO:0000269|PubMed:15810915, ECO:0000269|PubMed:1639429, ECO:0000269|PubMed:16805874, ECO:0000269|PubMed:18184865, ECO:0000269|PubMed:1851341, ECO:0000269|PubMed:1908096, ECO:0000269|PubMed:1908817, ECO:0000269|PubMed:1973901, ECO:0000269|PubMed:2104766, ECO:0000269|PubMed:2105106, ECO:0000269|PubMed:2105906, ECO:0000269|PubMed:2106480, ECO:0000269|PubMed:2107542, ECO:0000269|PubMed:21371196, ECO:0000269|PubMed:2495245, ECO:0000269|PubMed:2498882, ECO:0000269|PubMed:2499363, ECO:0000269|PubMed:2506948, ECO:0000269|PubMed:2510835, ECO:0000269|PubMed:2833855, ECO:0000269|PubMed:2835904, ECO:0000269|PubMed:3012775, ECO:0000269|PubMed:3122181, ECO:0000269|PubMed:7579394, ECO:0000269|PubMed:7759074, ECO:0000269|PubMed:7794769, ECO:0000269|PubMed:8322269, ECO:0000269|PubMed:8449505, ECO:0000269|PubMed:8639447, ECO:0000269|PubMed:8644728, ECO:0000269|PubMed:8759905, ECO:0000269|PubMed:9029040, ECO:0000269|PubMed:9326186, ECO:0000269|PubMed:9341862, ECO:0000269|PubMed:9450898, ECO:0000269|PubMed:9452104, ECO:0000269|PubMed:9569180, ECO:0000269|PubMed:9569189, ECO:0000269|PubMed:9603440, ECO:0000269|PubMed:9792405, ECO:0000269|PubMed:9829908, ECO:0000269|PubMed:9886318}. Note=The disease is caused by mutations 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.
DomainDomain F5/8 type C 2 is responsible for phospholipid- binding and essential for factor VIII activity.
FunctionFactor VIII, along with calcium and phospholipid, acts as a cofactor for factor IXa when it converts factor X to the activated form, factor Xa.
Mass SpectrometryMass=1367.6; Method=Electrospray; Range=356- 378; Note=Nonsulfated.; Evidence={ECO:0000269|PubMed:10368977};
Mass SpectrometryMass=1407.4; Method=Electrospray; Range=356- 378; Note=Sulfated.; Evidence={ECO:0000269|PubMed:10368977};
Mass SpectrometryMass=2000.7; Method=Electrospray; Range=1691- 1708; Note=Nonsulfated.; Evidence={ECO:0000269|PubMed:10368977};
Mass SpectrometryMass=2080.7; Method=Electrospray; Range=1691- 1708; Note=Sulfated.; Evidence={ECO:0000269|PubMed:10368977};
Mass SpectrometryMass=2460.9; Method=Electrospray; Range=1672- 1692; Note=Nonsulfated.; Evidence={ECO:0000269|PubMed:10368977};
Mass SpectrometryMass=2540.7; Method=Electrospray; Range=1672- 1692; Note=Sulfated.; Evidence={ECO:0000269|PubMed:10368977};
Mass SpectrometryMass=2975.4; Method=Electrospray; Range=400- 424; Note=Nonsulfated.; Evidence={ECO:0000269|PubMed:10368977};
Mass SpectrometryMass=3024; Method=Electrospray; Range=727-752; Note=Nonsulfated.; Evidence={ECO:0000269|PubMed:10368977};
Mass SpectrometryMass=3104; Method=Electrospray; Range=727-752; Note=Monosulfated.; Evidence={ECO:0000269|PubMed:10368977};
Mass SpectrometryMass=3183.5; Method=Electrospray; Range=727- 752; Note=Disulfated.; Evidence={ECO:0000269|PubMed:10368977};
Mass SpectrometryMass=3262.5; Method=Electrospray; Range=727- 752; Note=Trisulfated.; Evidence={ECO:0000269|PubMed:10368977};
PharmaceuticalAvailable under the names Kogenate (Bayer) and Recombinate (Baxter and American Home Products). Used to treat hemophilia A.
PtmSulfation on Tyr-1699 is essential for binding vWF. {ECO:0000269|PubMed:10368977, ECO:0000269|PubMed:1554716, ECO:0000269|PubMed:1898735}.
SimilarityBelongs to the multicopper oxidase family. {ECO:0000305}.
SimilarityContains 2 F5/8 type C domains. {ECO:0000255|PROSITE- ProRule:PRU00081}.
SimilarityContains 3 F5/8 type A domains. {ECO:0000305}.
SimilarityContains 6 plastocyanin-like domains. {ECO:0000305}.
Subcellular LocationSecreted, extracellular space.
SubunitInteracts with vWF. vWF binding is essential for the stabilization of F8 in circulation. {ECO:0000269|PubMed:1554716, ECO:0000269|PubMed:9218428}.
Web ResourceName=HAMSters; Note=Factor VIII mutation db; URL="http://hadb.org.uk/WebPages/Main/main.htm";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f8/";
Web ResourceName=Wikipedia; Note=Factor VIII entry; URL="http://en.wikipedia.org/wiki/Factor_VIII";
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