Human Gene F8 (ENST00000360256.9) from GENCODE V44
Description: Homo sapiens coagulation factor VIII (F8), transcript variant 1, mRNA. (from RefSeq NM_000132) RefSeq Summary (NM_000132): This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000360256.9 Gencode Gene: ENSG00000185010.15 Transcript (Including UTRs) Position: hg38 chrX:154,835,792-155,022,723 Size: 186,932 Total Exon Count: 26 Strand: - Coding Region Position: hg38 chrX:154,837,597-155,022,552 Size: 184,956 Coding Exon Count: 26
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/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P00451
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
