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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TBXAS1 Gene

protein-coding   GIFtS: 71
GCID: GC07P139476

thromboxane A synthase 1 (platelet)

(Previous names: thromboxane A synthase 1 (platelet, cytochrome P450, subfamily...)
 Explore 26 diseases affiliated with
TBXAS1 via our new
 Human Malady Compendium 
Biological research products
for TBXAS1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Thromboxane A Synthase 1 (Platelet)1 2     EC 5.3.99.53 8
CYP51 2 3 5     GHOSAL2 5
CYP5A11 2 3     Thromboxane A Synthase 1 (Platelet, Cytochrome P450, Subfamily V)1
TXS1 2 3     BDPLT142
THAS1 2     Cytochrome P450, Family 5, Subfamily A, Polypeptide 12
TS1 2     Platelet, Cytochrome P450, Subfamily V2
TXAS1 2     Thromboxane A Synthase 1 (Platelet, Cytochrome P450, Family 5, Subfamily A)2
Cytochrome P450 5A12 3     Thromboxane-A Synthase2
TXA Synthase2 3     

External Ids:    HGNC: 116091   Entrez Gene: 69162   Ensembl: ENSG000000593777   OMIM: 2741805   UniProtKB: P245573   
ORGUL members:         
NONCODE:n408329    

Export aliases for TBXAS1 gene to outside databases

Previous GC identifers: GC07P137799 GC07P138808 GC07P138936 GC07P138982 GC07P139124 GC07P133772


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TBXAS1:
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are
monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and
other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence
similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of
prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a
role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively
spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Aug 2008)

Gene Wiki entry for TBXAS1 (Thromboxane-A synthase)


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007914.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBXAS1 gene promoter:
         STAT1   RP58   GATA-3   C/EBPalpha   GATA-1   GATA-2   FOXO1a   Sox9   PPAR-gamma2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TBXAS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TBXAS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBXAS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q34-q35   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q34-q35

TBXAS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBXAS1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P139476:  view genomic region     (about GC identifiers)

Start:
139,476,850 bp from pter      End:
139,720,125 bp from pter
Size:
243,276 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 138,807,008-139,048,964     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: THAS_HUMAN, P24557 (See protein sequence)
Recommended Name: Thromboxane-A synthase  
Size: 533 amino acids; 60518 Da
Cofactor: Heme group
Subunit: Monomer
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Caution: It is uncertain whether Met-1 is the initiator. An alternative upstream Met is found in primates, but not in
other mammals
Sequence caution: Sequence=AAC01761.1; Type=Erroneous gene model prediction; Sequence=AAC01761.1; Type=Erroneous
initiation; Sequence=AAF99269.1; Type=Erroneous initiation; Sequence=AAF99270.1; Type=Erroneous initiation;
Sequence=AAF99271.1; Type=Erroneous initiation; Sequence=AAF99272.1; Type=Erroneous initiation; Sequence=AAF99273.1;
Type=Erroneous initiation; Sequence=AAF99274.1; Type=Erroneous initiation; Sequence=AAF99275.1; Type=Erroneous
initiation; Sequence=AAF99276.1; Type=Erroneous initiation; Sequence=AAF99277.1; Type=Erroneous initiation;
Sequence=AAF99278.1; Type=Erroneous initiation; Sequence=AAF99279.1; Type=Erroneous initiation; Sequence=AAH41157.1;
Type=Erroneous initiation;
Secondary accessions: O14987 Q16844 Q8IUN1 Q9GZW4 Q9HD77 Q9HD78 Q9HD79 Q9HD80 Q9HD81 Q9HD82 Q9HD83
Q9HD84

Explore the universe of human proteins at neXtProt for TBXAS1: NX_P24557

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P24557

  • 4/6 DME Specific Peptides for TBXAS1 (P24557) (see all 6)
     GYYLGRRM  VVASVAFG  AVGALHHDP  FFRQGFWES 

    TBXAS1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (5 alternative transcripts): 
    NP_001052.2  NP_001124438.1  NP_001159725.1  NP_001159726.1  NP_112246.2  

    ENSEMBL proteins: 
     ENSP00000388736   ENSP00000388612   ENSP00000338087   ENSP00000402536   ENSP00000415892  
     ENSP00000391567   ENSP00000411274   ENSP00000411326   ENSP00000412710   ENSP00000263552  
     ENSP00000389414   ENSP00000392361   ENSP00000392702   ENSP00000444626  
    Reactome Protein details: P24557
    Human Recombinant Protein Products: 
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    Novus Biologicals TBXAS1 Protein
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    Uscn Proteins for TBXAS1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005788endoplasmic reticulum lumen ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005792microsome ----
    GO:0016021integral to membrane IEA--


    TBXAS1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TBXAS1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TBXAS1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I

    Graphical View of Domain Structure for InterPro Entry P24557

    ProtoNet protein and cluster: P24557

    3 Blocks protein families:
    IPB002401 E-class P450 group I signature
    IPB002402 Group II E-class P450 signature
    IPB008072 CYP3A P450 family signature


    UniProtKB/Swiss-Prot: THAS_HUMAN, P24557
    Similarity: Belongs to the cytochrome P450 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: THAS_HUMAN, P24557
    Catalytic activity: (5Z,13E)-(15S)-9-alpha,11-alpha-epidioxy-15-hydroxyprosta-5,13-dienoate =
    (5Z,13E)-(15S)-9-alpha,11-alpha-epoxy-15-hydroxythromboxa-5,13-dienoate

         Genatlas biochemistry entry for TBXAS1:
    thromboxane synthase,cytochrome p450 superfamily

    Enzyme Number (IUBMB): EC 5.3.99.51 2

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    8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate TBXAS1 (see all 10):
    hsa-miR-301b hsa-miR-519c-3p hsa-miR-301a hsa-miR-519a hsa-miR-3666 hsa-miR-519b-3p hsa-miR-454 hsa-miR-4295
    SwitchGear 3'UTR luciferase reporter plasmidTBXAS1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBXAS1

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity IEA--
    GO:0004796thromboxane-A synthase activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0009055electron carrier activity IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA--


    TBXAS1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Tbxas1tm1Swl for TBXAS1
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tbxas1):
     hematopoietic system  homeostasis/metabolism  immune system 

    TBXAS1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Arachidonic acid metabolism
    Arachidonic acid metabolism1.00
    HETE and HPETE biosynthesis and metabolism0.39
    Arachidonic acid metabolism0.42
    Eicosanoid Synthesis0.31
    HETE and HPETE biosynthesis and metabolism0.39
    2Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
    Synthesis of Prostaglandins (PG) and Thromboxanes (TX)1.00
    Prostaglandin 2 biosynthesis and metabolism FM0.44
    prostanoid biosynthesis0.50
    Prostaglandin 2 biosynthesis and metabolism FM0.44
    3Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.38
    4Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type1.00
    Phase 1 - Functionalization of compounds0.74
    5Eicosanoids
    Eicosanoids1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for TBXAS1
        Prostaglandin 2 biosynthesis and metabolism FM
    HETE and HPETE biosynthesis and metabolism


    2 GeneGo (Thomson Reuters) Pathways for TBXAS1
        HETE and HPETE biosynthesis and metabolism
    Prostaglandin 2 biosynthesis and metabolism FM

    3 BioSystems Pathways for TBXAS1 
        Eicosanoid Synthesis
    Prostaglandin Synthesis and Regulation
    prostanoid biosynthesis

    7/8        Reactome Pathways for TBXAS1 (see all 8) (see first 5)
        Cytochrome P450 - arranged by substrate type
    Eicosanoids
    Metabolism
    Arachidonic acid metabolism
    Biological oxidations
    Phase 1 - Functionalization of compounds
    Synthesis of Prostaglandins (PG) and Thromboxanes (TX)

    3 PharmGKB Pathways for TBXAS1
        Celecoxib Pathway, Pharmacodynamics
    Phenytoin Pathway, Pharmacokinetics
    Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    2         Kegg Pathways  (Kegg details for TBXAS1):
        Arachidonic acid metabolism
    Metabolic pathways


    TBXAS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TBXAS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/9 Interacting proteins for TBXAS1 (P245572, 3 ENSP000002635524) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631043I2D: score=1 
    HPGDSENSP000002952564STRING: ENSP00000295256
    PTGDSENSP000003606874STRING: ENSP00000360687
    PTGESENSP000003423854STRING: ENSP00000342385
    PTGES2ENSP000003453414STRING: ENSP00000345341
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001516prostaglandin biosynthetic process IEA--
    GO:0006690icosanoid metabolic process TAS--
    GO:0006692prostanoid metabolic process ----
    GO:0006805xenobiotic metabolic process TAS--
    GO:0030644cellular chloride ion homeostasis ----


    TBXAS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TBXAS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for TBXAS1

    Compounds for TBXAS1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Ozagrel hydrochlorideSelective thromboxane A2 synthetase inhibitor[74003-18-2]

    4 HMDB Compounds for TBXAS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Prostaglandin H2Prostaglandin-H2 (see all 27)42935-17-1--
    ThromboxaneThromboxane A2 66719-58-2--
    Thromboxane A2(1S-(1alpha,3alpha,3R*),4beta(Z),5alpha)-7-(3-(3-hydroxy-1-octenyl)-2,6-dioxabicyclo(3.1.1)hept-4-yl)-5-Heptenoate (see all 25)57576-52-0--

    2 DrugBank Compounds for TBXAS1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Ridogrel-- 110140-89-1targetinhibitor8376914 11856082 8313547 10848666 10592235 11270983
    Dazoxiben-- --targetinhibitor17139284 11752352 17016423 10592235

    10/22 Novoseek chemical compound relationships for TBXAS1 gene (see all 22)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thromboxane 89.8 50 16250911 (3), 8325653 (2), 16134166 (2), 7925341 (2) (see all 38)
    thromboxane a2 89.8 79 8325653 (2), 11006279 (2), 19403042 (2), 8306107 (2) (see all 38)
    prostaglandin-h2 89 20 11006279 (3), 18590695 (3), 16297851 (2), 16134166 (1) (see all 11)
    pgh2 85.7 15 11297515 (4), 7700866 (2), 7488650 (1), 8964509 (1) (see all 8)
    12-hydroxy-5,8,10-heptadecatrienoic acid 85.6 3 12859980 (2)
    prostacyclin 70.5 21 11006279 (1), 12154203 (1), 18590695 (1), 19748489 (1) (see all 13)
    pgd2 61 1 10359019 (1)
    txb2 59.4 2 8444174 (1), 10359019 (1)
    arachidonic acid 58.9 10 9063093 (1), 7488650 (1), 8444174 (1), 18264100 (1) (see all 7)
    clotrimazole 43.9 2 11297515 (1), 9873013 (1)

    Search CenterWatch for drugs/clinical trials and news about TBXAS1 / THAS 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TBXAS1 gene (5 alternative transcripts): 
    NM_001061.4  NM_001130966.2  NM_001166253.1  NM_001166254.1  NM_030984.3  

    Unigene Cluster for TBXAS1:

    Thromboxane A synthase 1 (platelet)
    Hs.520757  [show with all ESTs]
    Unigene Representative Sequence: NM_001130966
    18/24 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 24):
    ENST00000493340 ENST00000462053 ENST00000425687 ENST00000474763 ENST00000481440
    ENST00000438104 ENST00000336425 ENST00000473948 ENST00000448866 ENST00000422328
    ENST00000492560 ENST00000455353 ENST00000458722 ENST00000411653 ENST00000476637
    ENST00000462275(uc011kqu.2) ENST00000414041 ENST00000469630

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    Inhib. RNA
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    Additional cDNA sequence: 

    AK223466.1 AK296069.1 AK301049.1 AK301164.1 AK303440.1 BC014117.2 BC041157.1 M74055.1 
    M80646.1 M80647.1 NR_029394.1 S60133.1 

    15 DOTS entries:

    DT.97782814  DT.99992833  DT.455401  DT.121056733  DT.100022756  DT.121643591  DT.100780064  DT.95284796 
    DT.91644383  DT.100017058  DT.100710582  DT.40244924  DT.101967262  DT.40231588  DT.95282732 

    24/135 AceView cDNA sequences (see all 135):

    BC041157 AI872272 BQ101037 BQ030101 AU099213 CR625096 CD367977 BQ027613 
    AU076426 BQ710761 AW615299 BU616000 AA907907 AL551161 CD368493 BM673654 
    BC014117 BG255550 BM672386 CB117531 CB121763 CA437040 BG326666 BX389626 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for TBXAS1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:                                      -     -                             -                       -                                 
    SP2:                                      -     -                             -                       -                 -               
    SP3:                                      -                                                                                             
    SP4:                                            -                                                                                       
    SP5:                                      -     -     -                                                                                 


    ECgene alternative splicing isoforms for TBXAS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TBXAS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAAGGATAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    TBXAS1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TBXAS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBXAS1

    SOURCE GeneReport for Unigene cluster: Hs.520757

    UniProtKB/Swiss-Prot: THAS_HUMAN, P24557
    Tissue specificity: Platelets, lung, kidney, spleen, macrophages and lung fibroblasts

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TBXAS1 gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TBXAS11 thromboxane A synthase 1 (platelet) 65.94(n)
    64.34(a)
      418101  XM_416334.3  XP_416334.3 
    lizard
    (Anolis carolinensis)
    Reptilia TBXAS16
    --
    71(a)
    1 ↔ 1
    5(17156573-17160003)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC059313.12   -- 74.44(n)    BC059313.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufk19d082 Danio rerio clone RK064A2E01 thromboxane A synthase more 73.62(n)    AY398422.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyp9c13 cytochrome P450 29(a)
    (best of 14)
      2 60D10   --
    worm
    (Caenorhabditis elegans)
    Secernentea T10B9.73 cytochrome P450 29(a)
    (best of 7)
      II(9783728-9787263)   --
    rice
    (Oryza sativa)
    Liliopsida Os02g02219001 hypothetical protein 46.03(n)
    30.44(a)
      4328761  NM_001052860.1  NP_001046325.1 


    ENSEMBL Gene Tree for TBXAS1 (if available)
    TreeFam Gene Tree for TBXAS1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBXAS1 gene
    CYP4F222  CYP4F32  CYP4F22  CYP4F112  CYP3A42  CYP3A432  CYP46A12  CYP4A222  
    CYP4V22  ENSG000002256072  CYP3A72  CYP4B12  CYP3A52  CYP4A112  CYP4Z12  CYP4X12  
    CYP4F122  
    7 SIMAP similar genes for TBXAS1 using alignment to 14 protein entries:     THAS_HUMAN (see all proteins):
    thromboxane synthase    CYP3A5    CYP3A43    CYP3A43/CYP3A4    CYP3A4    CYP3A7
    CYP2E1

    TBXAS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4397 NCBI SNPs in TBXAS1 are shown (see all 4397    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1400052851,2
    Cpathogenic138939974(+) CTATCT/CTGGTC 11 /P /L nc-transcript-variantmis11Minor allele frequency- C:0.00NA 4552
    rs1994221161,2
    Cpathogenic139046386(+) GCCTCA/G/TGGGTG 15 R G W mis1 int11EU 1305
    rs1994221141,2
    Cpathogenic139046405(+) GCTGCC/TTGAGG 10 P L nc-transcript-variantmis1 int10--------
    rs711709331,2
    C,--133996874(+) ATGGA-/GGTTTT 6 -- int12Minor allele frequency- G:0.00NA CSA 4
    rs96900191,2
    H--138805291(+) CCTCGT/GGCCCT 4 -- us2k1 int14Minor allele frequency- G:0.00NS EA 418
    rs102785651,2
    C,--138806185(+) AGACCC/TTGCCG 4 -- us2k1 int10--------
    rs18605091,2
    C,--138807136(-) GCGCGA/CACCCT 4 -- ut51 us2k1 tfbs34Minor allele frequency- C:0.45CSA WA NA EA 359
    rs758466101,2
    --138807184(+) CCCACG/TCTGGC 4 -- ut51 us2k12Minor allele frequency- T:0.21CSA WA 120
    rs794731531,2
    --138807647(+) GGAAGA/GCTTGT 4 -- int1 us2k11Minor allele frequency- G:0.01EA 120
    rs605260731,2
    C,F,--138807725(+) TGCAGC/TGGAAG 4 -- int1 us2k13Minor allele frequency- T:0.43WA CSA 122

    HapMap Linkage Disequilibrium report for TBXAS1 (139476850 - 139720125 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TBXAS1
         1 Indel: 12970
    Human Gene Mutation Database (HGMD): TBXAS1

    Locus Specific Mutation Databases (LSDB): TBXAS1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TBXAS1 for disorders           About GeneDecksing

    OMIM gene information: 274180   
    OMIM disorders: 231095  
    UniProtKB/Swiss-Prot: THAS_HUMAN, P24557
  • Defects in TBXAS1 are the cause of Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]. GHDD is a rare
  • autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and
    aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that
    functional marrow cells are regenerated slowly or not at all
  • Defects in TBXAS1 are the cause of thromboxane synthetase deficiency (TBXAS1 deficiency) [MIM:274180]. It is
  • characterized by hemorrhagic diathesis

    20/26 diseases for TBXAS1 (see all 26):    About MalaCards
    thromboxane synthase deficiency    autonomic neuropathy    breast cancer susceptibility    epithelial ovarian cancer
    bleeding disorder    pituitary adenoma    myocardial infarction    cystic fibrosis
    cerebral infarction    breast cancer    cholesterol    ovarian cancer
    neuropathy    prostate cancer    sinusitis    adenoma
    fibrosis    cerebritis    prostatitis    osteoarthritis

    9 Novoseek disease relationships for TBXAS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythroleukemia 33.4 1 1633871 (1)
    coagulopathy 13.1 1 8325653 (1)
    renal disease 0.28 1 7878751 (1)
    cardiovascular diseases 0 2 8325653 (1), 8964509 (1)
    adenocarcinoma 0 1 16357168 (1)
    metastasis 0 4 16357168 (1), 16627914 (1), 17603559 (1)
    tumors 0 13 16627914 (3), 16357168 (2), 16709411 (1), 17603559 (1) (see all 5)
    prostate cancer 0 1 14742249 (1)
    cancer 0 3 16709411 (3)

    Human Genome Epidemiology (HuGE) Navigator: TBXAS1 (20 documents)

    Export disorders for TBXAS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TBXAS1 gene, integrated from 9 sources (see all 130):
    (articles sorted by number of sources associating them with TBXAS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of human platelet thromboxane A synthase. (PubMed id 1714723)1, 2, 3, 9 Yokoyama C.... Tanabe T. (1991)
    2. Amino-terminal topology of thromboxane synthase in the endoplasmic reticulum. (PubMed id 8366093)1, 2, 9 Ruan K.H.... Kulmacz R.J. (1993)
    3. Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). (PubMed id 18264100)1, 2, 9 Genevieve D.... Cormier-Daire V. (2008)
    4. Genomic structure and polymorphism of the human thromboxane synthase-encoding gene. (PubMed id 8964509)1, 3, 9 Baek S.J....Shen R.F. (1996)
    5. Characterization of the human gene (TBXAS1) encoding thromboxane synthase. (PubMed id 7925341)1, 2, 9 Miyata A....Tanabe T. (1994)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Catalog of 680 variations among eight cytochrome p450 (CYP) genes, nine esterase genes, and two other genes in the Japanese population. (PubMed id 12721789)1, 2 Saito S....Nakamura Y. (2003)
    8. Identification of genetic variants in the human thromboxane synthase gene (CYP5A1). (PubMed id 11465543)1, 2 Chevalier D.... Broly F. (2001)
    9. Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PubMed id 10391209)1, 2 Cargill M....Lander E.S. (1999)
    10. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. (PubMed id 10391210)1, 2 Halushka M.K.... Chakravarti A. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6916 HGNC: 11609 AceView: TBXAS1 Ensembl:ENSG00000059377 euGenes: HUgn6916
    ECgene: TBXAS1 Kegg: 6916 H-InvDB: TBXAS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TBXAS1 Pharmacogenomics, SNPs, Pathways
    Cytochrome P450 Allele Nomenclature Committeehttp://www.cypalleles.ki.se/cyp5a1.htm

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TBXAS1 gene:
    Search GeneIP for patents involving TBXAS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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