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Description for Protein F9

coagulation factor IX
5 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • EGFL: EGF domain, unclasssified subfamily
  • TRYPSIN: Trypsin-like serine protease
  • GLA: Domain containing Gla (gamma-carboxyglutamate) residues.
  • EGFCA: Calcium-binding EGF-like domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.4.21.22
    KEGG - Orthology:
    K01321
    KEGG - Pathway(s):
    hsa04610
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Christmas factor; Factor 9
    Approved Symbol:
    F9
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Antihemophilic Factor(db);
  • Gamma-Carboxy-Glutamic Acid(db);
  • Menadione(db)

    Associated Genetic Diseases:

  • Factor IX Malmo(Pd);
  • Factor IX polymorphism(Pd);
  • Factor IX, DNA polymorphism(Pd);
  • Factor IX, normal variant(Pd);
  • Hemophilia B(Pd);
  • Hemophilia B (Leyden)(Pd);
  • Hemophilia B Brandenburg(Pd);
  • Hemophilia B due to Alu insertion(Pd);
  • Hemophilia B Oxford H5(Pd);
  • Hemophilia B(M)(Pd);
  • Warfarin sensitivity(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02385 Entrez Gene ID: 2158 OMIM ID: 300746 Swissprot Accession: P00740;