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FLASH GENE
Symbol F13A1 contributors: mct - updated : 02-11-2010
HGNC name coagulation factor XIII, A1 polypeptide
HGNC id 3531
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated Other
mono polymer homomer , heteromer , dimer , tetramer
isoforms Precursor
HOMOLOGY
interspecies ortholog to murine F13a1
ortholog to rattus F13a
Homologene
FAMILY
  • transglutaminase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic
    text
  • present in the cytosol of platelets, megakaryocytes, monocytes, osteoblasts, and macrophages
    • basic FUNCTION
  • coagulation factor XIII, A1 polypeptide, catalytic subunit
  • plasma transglutaminase
  • catalyzing the formation of glutamyl-lysine bonds between fibrin monomers
  • cross-linking alpha-2 plasmin inhibitor or fibronectin to the alpha chains of fibrin
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS coagulation/hemostasis
    PATHWAY
    metabolism
    signaling
    a component
  • heterotetramer with two A and two B subunits
  • acetylated
    • INTERACTION
    DNA
    RNA
    small molecule metal binding, cofactor,
  • Ca2+ (one ion per subunit)
    • protein
    cell & other
    REGULATION
    activated by thrombin
    Ca2+ dependent to dissociation of B subunit
    ASSOCIATED DISORDERS
    corresponding disease(s) F13A1
    Susceptibility
  • to cleft lip without cleft palate
  • to primary intracerebral hemorrhage but protection against cerebral and myocardial infarction
  • to recurrent pregnancy loss
    • Variant & Polymorphism SNP , other
  • V34L increased risk for intracerebral hemorrhage
  • correlation found between F13A1 A614T and C1694T polymorphisms in recurrent pregnancy loss
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS