P00740

FUNCTION: Factor 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. CATALYTIC ACTIVITY: Selective cleavage of Arg-|-Ile bond in factor X to form factor Xa. SUBUNIT: Heterodimer of a light chain and a heavy chain; disulfide-linked. SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Synthesized primarily in the liver and secreted in plasma. DOMAIN: Calcium binds to the gamma-carboxyglutamic acid (Gla) residues and, with stronger affinity, to another site, beyond the Gla domain. PTM: Activated by factor XIa, which excises the activation peptide. PTM: The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. DISEASE: Defects in F9 are the cause of recessive X-linked hemophilia B (HEMB) [MIM:306900]; also known as Christmas disease. DISEASE: Note=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. DISEASE: Defects in F9 are the cause of thrombophilia due to factor IX defect (THPH8) [MIM:300807]. A hemostatic disorder characterized by a tendency to thrombosis. PHARMACEUTICAL: Available under the name BeneFix (Baxter and American Home Products). Used to treat hemophilia B. MISCELLANEOUS: In 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. SIMILARITY: Belongs to the peptidase S1 family. SIMILARITY: Contains 2 EGF-like domains. SIMILARITY: Contains 1 Gla (gamma-carboxy-glutamate) domain. SIMILARITY: Contains 1 peptidase S1 domain. WEB RESOURCE: Name=Wikipedia; Note=Factor IX entry; URL="http://en.wikipedia.org/wiki/Factor_IX"; WEB RESOURCE: Name=HAEMB; Note=Hemophilia B mutation database; URL="http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F9"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f9/"; WEB RESOURCE: Name=BeneFix; Note=Clinical information on BeneFix; URL="http://www.wyeth.com/products/benefix.asp"; WEB RESOURCE: Name=Protein Spotlight; Note=The Christmas Factor - Issue 41 of December 2003; URL="http://web.expasy.org/spotlight/back_issues/sptlt041.shtml"; GENE SYNONYMS:F9. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License., SEQUENCE 461 AA; 51778 MW; C4720C1234477EF5 CRC64;

FA9_HUMAN

urn:biopax:ModificationFeature:FA9_HUMAN_1, urn:biopax:ModificationFeature:FA9_HUMAN_10, urn:biopax:ModificationFeature:FA9_HUMAN_11, urn:biopax:ModificationFeature:FA9_HUMAN_12, urn:biopax:ModificationFeature:FA9_HUMAN_13, urn:biopax:ModificationFeature:FA9_HUMAN_14, urn:biopax:ModificationFeature:FA9_HUMAN_15, urn:biopax:ModificationFeature:FA9_HUMAN_16, urn:biopax:ModificationFeature:FA9_HUMAN_2, urn:biopax:ModificationFeature:FA9_HUMAN_3, urn:biopax:ModificationFeature:FA9_HUMAN_4, urn:biopax:ModificationFeature:FA9_HUMAN_5, urn:biopax:ModificationFeature:FA9_HUMAN_6, urn:biopax:ModificationFeature:FA9_HUMAN_7, urn:biopax:ModificationFeature:FA9_HUMAN_8, urn:biopax:ModificationFeature:FA9_HUMAN_9

MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCSFEEAREVFENTERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELDVTCNIKNGRCEQFCKNSADNKVVCSCTEGYRLAENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPDVDYVNSTEAETILDNITQSTQSFNDFTRVVGGEDAKPGQFPWQVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAGEHNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGSGYVSGWGRVFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMKGKYGIYTKVSRYVNWIKEKTKLT