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FLASH GENE
Symbol TBXAS1 contributors: mct - updated : 24-01-2009
HGNC name thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A)
HGNC id 11609
Corresponding disease
GHDD Ghosal hemato-diaphyseal dysplasia
TBXAS1D thromboxane A synthase deficiency
Location 7q34      Physical location : 139.478.046 - 139.720.123
Synonym name
  • TXA synthase
  • cytochrome P450, subfamily 5
  • thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)
  • Synonym symbol(s) TS, TXS, CYP5, THAS, TXAS, CYP5A1
    EC.number 5.3.99.5
    DNA
    TYPE functioning gene
    STRUCTURE 191.05 kb     13 Exon(s)    1 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence   triplet
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 splicing 1946 60.55 534 - Wang (2002)
    12 splicing 1783 52.32 460 - Wang (2002)
  • lacking exon 12
  • distinct C terminus, lacking thromboxase activity
  • EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon moderately
     intestinesmall intestine  moderately
    Lymphoid/Immunespleen   predominantly
     thymus   highly
    Nervousnervecranial nerve  highly
    Respiratorylung   lowly
    Urinarybladder   moderately
     kidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Connective   highly
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunemacrophage
    cell lineage
    cell lines
    fluid/secretion blood
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated HemoP
    mono polymer monomer
    HOMOLOGY
    interspecies homolog to chimpanzee TBXAS1 (98.88 pc)
    homolog to rattus Tbxas1 (79.55 pc)
    homolog to murine Tbxas1 (81.43 pc)
    Homologene
    FAMILY
  • cytochrome P450 family
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
  • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • converting prostaglandin endoperoxide to thromboxane A2
  • enzyme of the arachidonic acid cascade, producing thromboxane A2
  • plays a key role in platelet aggregation
  • may have a function in bone remodeling, with a presumably large impact of peak bone-mass variation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS coagulation/hemostasis , electron transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • heme-thiolate
  • NADPH
  • protein
  • flavoprotein P450 oxidoreductase (POR)
  • prostaglandin (2) synthase, antithetically altering tumor angiogenesis and tumor growth
  • modulated expression of TNFSF11 and TNFRSF11B (encoding RANKL and osteoprotegerin (OPG), respectively) in primary cultured osteoblasts
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TBXAS1D , GHDD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in colorectal carcinoma, inducing overconversion of prostaglandin endoperoxide to thromboxane A2that is involved in the colonic cancer cell proliferation
    tumoral     --low  
    in high grade breast tumours and tumour patients with poor prognosis (Watkins 2005)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS