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FLASH GENE
Symbol F5 contributors: mct/npt - updated : 22-02-2017
HGNC name coagulation factor V (proaccelerin, labile factor)
HGNC id 3542
Corresponding disease
F5 parahemophilia, Owren disease
F5TPH thrombophilia
Location 1q24.2      Physical location : 169.481.191 - 169.555.769
Synonym name
  • activated protein C cofactor
  • proaccelerin, labile factor
  • coagulation factor V jinjiang A2 domain
    • Synonym symbol(s) FVL, PCCF
    DNA
    TYPE functioning gene
    STRUCTURE 74.58 kb     25 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence
    text structure contains several types of internal repeats with the following domain structure: A1-A2-B-A3-C1-C2 (Cripe 1992)
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 9179 249 2224 - Cripe (1992)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticplatelet
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three N terminal A domains of homology to ceruloplasmin
  • a B domain of unknown function between A2 and A3
  • two C terminal domains of homology with the milk fat globule membrane protein of mouse and the Dictyostelium discoideum lectin discoid 1
    • conjugated GlycoP
    isoforms Precursor precursor converted to active form by release of the activation peptide by thrombin
    HOMOLOGY
    intraspecies homolog to F8C
    Homologene
    FAMILY
  • multicopper oxidase family
    • CATEGORY immunity/defense , regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    text colocalized with multimerin
  • alpha-granules
    • basic FUNCTION
  • essential protein cofactor for the conversion of prothrombin to thrombin by factor Xa (Cripe 1992)
  • stored complexed to MMRN1, predominantly by noncovalent binding interactions (Jeimy 2008)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS coagulation/hemostasis
    PATHWAY
    metabolism
    signaling
    a component
  • complexed with multimerin
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • FII
  • high affinity binding of FV to MMRN1 may facilitate the costorage of the two proteins in platelet alpha-granules (MMRN1 release during platelet activation may limit platelet dependent thrombin generation) (jeimy 2008)
  • FX
  • LMAN1 transports coagulation factors V (F5) and VIII (F8)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) F5 , F5TPH
    Susceptibility
  • to preeclampsia
  • deep vein thrombosis
  • to HELLP syndrome
    • Variant & Polymorphism other
  • haplotype HR2 increases the risk of deep vein thrombosis
  • R485K increases susceptibility to preeclampsia
  • women heterozygous for factor V Leiden have an increased risk of developing HELLP syndrome
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS