MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001012

UniProt Annotations

Entry Information
Gene Namecoagulation factor IX
Protein EntryFA9_HUMAN
UniProt IDP00740
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P00740-1; Sequence=Displayed; Name=2; IsoId=P00740-2; Sequence=VSP_047689;
Catalytic ActivitySelective cleavage of Arg-|-Ile bond in factor X to form factor Xa.
DiseaseHemophilia B (HEMB) [MIM:306900]: An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma. {ECO:0000269|PubMed:10094553, ECO:0000269|PubMed:10698280, ECO:0000269|PubMed:11122099, ECO:0000269|PubMed:12588353, ECO:0000269|PubMed:12604421, ECO:0000269|PubMed:1346975, ECO:0000269|PubMed:1615485, ECO:0000269|PubMed:1902289, ECO:0000269|PubMed:1958666, ECO:0000269|PubMed:2162822, ECO:0000269|PubMed:2339358, ECO:0000269|PubMed:2372509, ECO:0000269|PubMed:2472424, ECO:0000269|PubMed:2592373, ECO:0000269|PubMed:2713493, ECO:0000269|PubMed:2714791, ECO:0000269|PubMed:2738071, ECO:0000269|PubMed:2753873, ECO:0000269|PubMed:2773937, ECO:0000269|PubMed:2775660, ECO:0000269|PubMed:3009023, ECO:0000269|PubMed:3243764, ECO:0000269|PubMed:3401602, ECO:0000269|PubMed:3790720, ECO:0000269|PubMed:6603618, ECO:0000269|PubMed:7981722, ECO:0000269|PubMed:8076946, ECO:0000269|PubMed:8199596, ECO:0000269|PubMed:8257988, ECO:0000269|PubMed:8295821, ECO:0000269|PubMed:8680410, ECO:0000269|PubMed:9222764, ECO:0000269|PubMed:9452115, ECO:0000269|PubMed:9590153, ECO:0000269|PubMed:9600455}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNote=Mutations in position 43 (Oxford-3, San Dimas) and 46 (Cambridge) prevents cleavage of the propeptide, mutation in position 93 (Alabama) probably fails to bind to cell membranes, mutation in position 191 (Chapel-Hill) or in position 226 (Nagoya OR Hilo) prevent cleavage of the activation peptide.
DiseaseThrombophilia, X-linked, due to factor IX defect (THPH8) [MIM:300807]: A hemostatic disorder characterized by a tendency to thrombosis. {ECO:0000269|PubMed:19846852}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainCalcium binds to the gamma-carboxyglutamic acid (Gla) residues and, with stronger affinity, to another site, beyond the Gla domain.
FunctionFactor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa.
MiscellaneousIn 1952, one of the earliest researchers of the disease, Dr. R.G. Macfarlane used the patient's surname, Christmas, to refer to the disease and also to refer to the clotting factor which he called the 'Christmas Factor' At the time Stephen Christmas was a 5-year-old boy. He died in 1993 at the age of 46 from acquired immunodeficiency syndrome contracted through treatment with blood products.
PharmaceuticalAvailable under the name BeneFix (Baxter and American Home Products). Used to treat hemophilia B.
PtmActivated by factor XIa, which excises the activation peptide.
PtmPredominantly O-glucosylated at Ser-99 by POGLUT1 in vitro. Xylosylation at this site is minor.
PtmThe iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. {ECO:0000269|PubMed:6329734, ECO:0000269|PubMed:6688526}.
SimilarityBelongs to the peptidase S1 family. {ECO:0000255|PROSITE-ProRule:PRU00274}.
SimilarityContains 1 Gla (gamma-carboxy-glutamate) domain. {ECO:0000255|PROSITE-ProRule:PRU00463}.
SimilarityContains 1 peptidase S1 domain. {ECO:0000255|PROSITE- ProRule:PRU00274}.
SimilarityContains 2 EGF-like domains. {ECO:0000255|PROSITE- ProRule:PRU00076}.
Subcellular LocationSecreted.
SubunitHeterodimer of a light chain and a heavy chain; disulfide-linked.
Tissue SpecificitySynthesized primarily in the liver and secreted in plasma.
Web ResourceName=BeneFix; Note=Clinical information on BeneFix; URL="http://www.pfizer.com/products/rx/rx_product_benefix.jsp";
Web ResourceName=Factor IX Mutation Database; URL="http://www.factorix.org/";
Web ResourceName=Protein Spotlight; Note=The Christmas Factor - Issue 41 of December 2003; URL="http://web.expasy.org/spotlight/back_issues/041";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f9/";
Web ResourceName=Wikipedia; Note=Factor IX entry; URL="http://en.wikipedia.org/wiki/Factor_IX";
  logo