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FLASH GENE
Symbol F9 contributors: mct/npt - updated : 02-06-2013
HGNC name coagulation factor IX
HGNC id 3551
Corresponding disease
F9D hemophilia B, F9 deficiency
Location Xq27.1      Physical location : 138.612.894 - 138.645.617
Synonym name
  • plasma thromboplastic component
  • factor IX
  • christmas factor
    • Synonym symbol(s) FIX, PTC, HEMB, MGC129641, MGC129642
    EC.number 3.4.21.22
    DNA
    TYPE functioning gene
    STRUCTURE 32.72 kb     8 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - DXS10 - DXS99 - DXS64 - DXS155 - DXS294 /DXS730 - DXS51 - DXS102 - F9 - MCF2 - DXS403 - DXS8013 - DXS119 - DXS984 - CDR1 - DXS152 - DXS105 - DXS1205 - DXS1227 - DXS259 - DXS98 - DXS312 - DXS8084 - DXS292 - DXS298 - DXS369 - qter
    Authors Consensus (95), Zucchi (96)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2802 48.7 461 - Ghosh (2009)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    cell lineage
    cell lines
    fluid/secretion
  • plasma
    • at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminus GLA domain, that with C2 domain of factor VIIIa are involved in phospholipid binding and are required for the activation of factor X (Soeda 2009)
  • an EGF2 domain (contacts between EGF2 and the protease domain of FIXa are crucial for FIXa enzymatic activity and for the assembly of the FX-activating complex) (Fribourg 2006)
  • two cysteine-rich domains highly homologous to EGF,
  • a C terminal catalytic domain
    • conjugated GlycoP
    mono polymer aggregate
    isoforms Precursor . zymogen
    HOMOLOGY
    Homologene
    FAMILY
  • peptidase S1 family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • vitamin K-dependent, serine protease, activator of FX, through interactions with Ca2+, membrane phospholipids end FVIII
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS coagulation/hemostasis
    PATHWAY
    metabolism
    signaling
    a component
  • plasma thromboplastic component
  • heterodimer of a light chain and a heavy chain, disulfide-linked
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • expression of F9 is crucially dependent on ONECUT factors (ONECUT1, ONECUT2)
  • hydrophobic helical stack between the GLA and EGF1 domains of F9 is predicted to be primary interacting region with the A3-C2 domain interface of F8
    • cell & other
    REGULATION
    activated by FXIa which excises the activation peptide and produces a molecule with a heavy and a light chain bound by disulfide bond(s)
    ASSOCIATED DISORDERS
    corresponding disease(s) F9D
    related resource Haemophilia B Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    is a common risk factor for deep vein thrombosis (van Hylckama 2000)
    Susceptibility for deep vein thrombosis
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS