coagulation factor IX; Christmas factor; plasma thromboplastin component; PTC; contains: coagulation factor IXa light chain; coagulation factor IXa heavy chain (F9)
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Function
- vitamin K-dependent coagulation factor
- participates in the intrinsic pathway of blood coagulation by converting factor X to its active form (factor Xa) in the presence of Ca+2, phospholipids, & factor VIIIa
- selective cleavage of Arg-|-Ile bond in factor X to form factor Xa
- activated by factor XIa, which excises the activation peptide
- the iron & 2-oxoglutarate dependent 3-hydroxylation of Asp & Asn is (R) stereospecific within EGF domains
- heterodimer of a light chain & a heavy chain disulfide-linked
Structure
- Ca+2 binds to the gamma-carboxyglutamic acid (Gla) residues &, with stronger affinity, to another site, beyond the Gla domain
- belongs to the peptidase S1 family
- contains 2 EGF-like domains
- contains 1 Gla (gamma-carboxy-glutamate) domain
- contains 1 peptidase S1 domain
Compartment
Expression
Pathology
- defects in F9 are the cause of recessive X-linked hemophilia B (Christmas disease)
- mutations in position 43 (Oxford-3, San dimas) & 46 (Cambridge) prevent 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
- defects in F9 are the cause of thrombophilia due to factor IX defect
More general terms
More specific terms
Additional terms
- coagulation cascade
- coagulation factor IXa
- factor IX complex
- hemophilia B; factor IX deficiency ; Christmas disease
Component of
- factor ix/factor vii/factor x/protein c/protein s/prothrombin
- prothrombin complex concentrate (Autoplex-T, Kcentra)
References
- ↑ UniProt http://www.uniprot.org/uniprot/P00740.html
- ↑ Wikipedia; Factor IX entry http://en.wikipedia.org/wiki/factor_IX
- ↑ HAEMB; Note: hemophilia B mutation database http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/F9
- ↑ SeattleSNPs http://pga.gs.washington.edu/data/f9/
- ↑ Protein Spotlight; Note: the christmas factor - Issue 41 of December 2003 http://www.expasy.org/spotlight/back_issues/sptlt041.shtml
- ↑ Baron M, Norman DG, Campbell ID. Protein modules. Trends Biochem Sci. 1991 Jan;16(1):13-7. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/2053133
- ↑ Suttie JW. Synthesis of vitamin K-dependent proteins. FASEB J. 1993 Mar;7(5):445-52. Review. PMID: https://www.ncbi.nlm.nih.gov/pubmed/8462786
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2158
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2158
- OMIM: https://mirror.omim.org/entry/300746
- OMIM: https://mirror.omim.org/entry/300807
- OMIM: https://mirror.omim.org/entry/306900
- UniProt: http://www.uniprot.org/uniprot/P00740.html