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FLASH GENE
Symbol F13A1 contributors: mct - updated : 02-11-2010
HGNC name coagulation factor XIII, A1 polypeptide
HGNC id 3531
Corresponding disease
F13A1 fibrin-stabilizing factor deficiency, type II
Location 6p25.1      Physical location : 6.144.311 - 6.320.924
Synonym name
  • FSF, A subunit
  • protein-glutamine gamma-glutamyltransferase A chain
  • bA525O21.1 (coagulation factor XIII, A1 polypeptide)
  • fibrinoligase
  • fibrin stabilizing factor, A subunit
  • transglutaminase A chain
  • transglutaminase plasma
    • Synonym symbol(s) F13A, TGase
    EC.number 2.3.2.13
    DNA
    TYPE functioning gene
    STRUCTURE 176.61 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 3863 - 732 - 1998 9827915
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Lymphoid/Immunethymus   highly
    Reproductivefemale systemplacenta  predominantly
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmegakaryocyte
    Blood/Hematopoieticmonocyte
    Blood/Hematopoieticplatelet
    Lymphoid/Immunemacrophage
    Skeletonosteoblast
    cell lineage
    cell lines
    fluid/secretion plasma
    at STAGE
    physiological period pregnancy
    Text placenta
    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