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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
  • 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
    Physical map
    RIPK1 6p25.3-p24.1 receptor (TNFRSF)-interacting serine-threonine kinase 1 BPHL 6p25 biphenyl hydrolase-like (serine hydrolase; breast epithelial mucin-associated antigen) TUBB 6p21.3 tubulin, beta polypeptide MGC8685 6p25 tubulin, beta polypeptide paralog LOC389362 6 LOC389362 C6orf85 6p25.2 chromosome 6 open reading frame 85 DKFZP434F011 6p25.2-p25.1 ion transporter protein C6orf145 6p25.1 chromosome 6 open reading frame 145 D6S2654E 6pter DNA segment on chromosome 6(unique) 2654 expressed sequence LOC389363 6 hypothetical gene supported by AF118652; NM_006541 PRPF4B 6p24.2 PRP4 pre-mRNA processing factor 4 homolog B (yeast) C6orf146 6p25.1 chromosome 6 open reading frame 146 PECI 6p24.3 peroxisomal D3,D2-enoyl-CoA isomerase LOC285777 6p25.1 hypothetical LOC285777 LOC391865 6 similar to protease (prosome, macropain) 26S subunit, ATPase 1 CDYL 6p25.1 chromodomain protein, Y chromosome-like RNASEP1 6p25.1 ribonuclease P1 LOC389364 6 similar to Protein phosphatase 1, regulatory subunit 3D (Protein phosphatase 1, regulatory subunit 6) (Protein phosphatase 1 binding subunit R6) C6orf149 6p25.1 chromosome 6 open reading frame 149 FARS1 6p25.1 phenylalanine-tRNA synthetase 1 (mitochondrial) LOC391866 6 similar to ribosomal protein L34; 60S ribosomal protein L34 LOC391867 6 similar to Pyruvate kinase, M1 isozyme (Pyruvate kinase muscle isozyme) (Cytosolic thyroid hormone-binding protein) (CTHBP) (THBP1) NRN1 6p24.1 neuritin 1 F13A1 6p24.2-p24.3 coagulation factor XIII, A1 polypeptide FLJ33708 6p24.3 hypothetical protein FLJ33708 LY86 6p24.3 lymphocyte antigen 86 RREB1 6p25-p24.3 ras responsive element binding protein 1 SSR1 6p23 signal sequence receptor, alpha (translocon-associated protein alpha) CTAG3 6p24.3 cancer/testis antigen 3 RIOK1 6p24.3 RIO kinase 1 (yeast) LOC345994 6p24.3 similar to Isocitrate dehydrogenase [NADP] cytoplasmic (Oxalosuccinate decarboxylase) (IDH) (NADP+-specific ICDH) (IDP) DSP 6p24.2-p23 desmoplakin C6orf151 6p24.3 chromosome 6 open reading frame 151 RPL29P1 6p24.3 ribosomal protein L29 pseudogene 1 BMP6 6p25 bone morphogenetic protein 6 TXNDC5 6p24.3 thioredoxin domain containing 5 MGC26597 6p24.3 hypothetical protein MGC26597 EEF1E1 6p25.1-p23 eukaryotic translation elongation factor 1 epsilon 1 SLC35B3 6p24.3 solute carrier family 35, member B3 LOC389365 6 LOC389365
    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