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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
    Physical map
    CREB3L2 7q33-q34 cAMP responsive element binding protein 3-like 2 AKR1D1 7q32-q33 aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) LOC392101 7 similar to dJ753D5.2 (novel protein similar to RPS17 (40S ribosomal protein S17)) LOC392102 7 similar to prothymosin, alpha (gene sequence 28) LOC136307 7q34 similar to inosine monophosphate dehydrogenase 1 isoform b; sWSS2608 TIF1 7q32-q34 transcriptional intermediary factor 1 LOC136306 7q34 hypothetical protein LOC136306 LOC392103 7 similar to 60S ribosomal protein L17 (L23) LOC202789 7q34 similar to Ubiquinol-cytochrome C reductase iron-sulfur subunit, mitochondrial precursor (Rieske iron-sulfur protein) (RISP) ATP6V0A4 7q33-q34 ATPase, H+ transporting, lysosomal V0 subunit a isoform 4 KIAA1549 7q34 KIAA1549 protein MGC14289 7q34 similar to RIKEN cDNA 1200014N16 gene ZC3HAV1 7q34 zinc finger CCCH type, antiviral 1 FLJ12571 7q34 hypothetical protein FLJ12571 LOC389561 7 similar to 60S ribosomal protein L37a FLJ25778 7q34 hypothetical protein FLJ25778 HSPC268 7q34 hypothetical protein HSPC268 LUC7L2 7q34 LUC7-like 2 (S. cerevisiae) FLJ44186 7q34 FLJ44186 protein LOC392104 7 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein HIPK2 7q32-q34 homeodomain interacting protein kinase 2 LOC389562 7 LOC389562 TBXAS1 7q34-q35 thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) ZC3HDC1 7q34 zinc finger CCCH type domain containing 1 SLC37A3 7q34 solute carrier family 37 (glycerol-3-phosphate transporter), member 3 LOC389563 7 similar to RAB19, member RAS oncogene family LOC392105 7 similar to Nucleoside diphosphate kinase, mitochondrial precursor (NDP kinase, mitochondrial) (NDK) (nm23-M4) (Nucleoside diphosphate kinase D) MKRN1 7q34 makorin, ring finger protein, 1 KIAA1277 7q34 KIAA1277 ADCK2 7q32-q34 aarF domain containing kinase 2 NDUFB2 7q34-q35 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa BRAF 7q34 v-raf murine sarcoma viral oncogene homolog B1 MRPS33 7q32-q34 mitochondrial ribosomal protein S33 FLJ10842 7q34 hypothetical protein FLJ10842 FLJ40852 7q34 hypothetical protein FLJ40852 SSBP1 7q34 single-stranded DNA binding protein TAS2R3 7q31.3-q32 taste receptor, type 2, member 3 TAS2R4 7q31.3-q32 taste receptor, type 2, member 4 TAS2R5 7q31.3-q32 taste receptor, type 2, member 5 LOC136242 7q34 similar to RIKEN cDNA 1700016G05 LOC392106 7 similar to olfactory receptor MOR120-3
    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