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

TBXAS1 Gene

protein-coding   GIFtS: 72
GCID: GC07P139476

Thromboxane A Synthase 1 (Platelet)

(Previous names: thromboxane A synthase 1 (platelet, cytochrome P450, subfamily...)
  23 related diseases
at
MalaCards
 

Aliases
for TBXAS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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     Subfamily A1
CYP52 3 5     Thromboxane A Synthase 1 (Platelet, Cytochrome P450, Subfamily V)1
Cytochrome P450 5A12 3     BDPLT142
CYP5A12 3     THAS2
TXS2 3     TS2
TXA Synthase2 3     TXAS2
EC 5.3.99.53 8     Cytochrome P450, Family 5, Subfamily A, Polypeptide 12
GHOSAL2 5     Platelet, Cytochrome P450, Subfamily V2
Cytochrome P4501     Thromboxane A Synthase 1 (Platelet, Cytochrome P450, Family 5, Subfamily
A)2
Family 51     Thromboxane-A Synthase2
Polypeptide 11     

External Ids:    HGNC: 116091   Entrez Gene: 69162   Ensembl: ENSG000000593777   OMIM: 2741805   UniProtKB: P245573   
ORGUL members:         
NONCODE14:n408329 n341338      

Export aliases for TBXAS1 gene to outside databases

Previous GC identifers: GC07P137799 GC07P138808 GC07P138936 GC07P138982 GC07P139124 GC07P133772


Summaries
for TBXAS1 gene

(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 Gene:
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)

GeneCards Summary for TBXAS1 Gene: 
TBXAS1 (thromboxane A synthase 1 (platelet)) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with TBXAS1 include aregenerative anemia, and cytochrome p450, and among its related super-pathways are Prostaglandin 2 biosynthesis and metabolism FM and Arachidonic acid metabolism. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP4F22.

Gene Wiki entry for TBXAS1 (Thromboxane-A synthase) Gene


Genomic Views
for TBXAS1 gene

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  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     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for TBXAS1

Proteins
for TBXAS1 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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: E7ESB5 O14987 Q16844 Q8IUN1 Q96CN2 Q9GZW4 Q9HD77 Q9HD78 Q9HD79 Q9HD80
Q9HD81 Q9HD82 Q9HD83 Q9HD84
Alternative splicing: 2 isoforms:  P24557-1   P24557-2   (No experimental confirmation available)

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

Explore proteomics data for TBXAS1 at MOPED 

Post-translational modifications:

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

    • 6 DME Specific Peptides for TBXAS1 (P24557) (see first 4)
     GYYLGRRM  VVASVAFG  AVGALHHDP  FFRQGFWES 
     LIRNVIALRD  ETLRMYPPAFRFTR 

    TBXAS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBXAS1 Protein Expression
    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 for TBXAS1: 
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    OriGene Purified Proteins for TBXAS1
    OriGene Protein Over-expression Lysate for TBXAS1
    OriGene MassSpec for TBXAS1 
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    GenScript Custom Purified and Recombinant Proteins Services for TBXAS1
    Novus Biologicals TBXAS1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--

    TBXAS1 for ontologies           About GeneDecksing



    TBXAS1 Antibody Products: 
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    Abcam antibodies for TBXAS1
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibodies for TBXAS1
    LSBio Antibodies in human, mouse, rat for TBXAS1 

    Assay Products for TBXAS1: 
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    GenScript Custom Assay Services for TBXAS1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.

    Protein Domains /
    Families
    for TBXAS1 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 HGNC Gene Families: 
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP5A1 
    CYP5, CYP7 and CYP8 families

    3 InterPro protein domains:
     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 domains:
    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


    TBXAS1 for domains           About GeneDecksing


    Function
    for TBXAS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         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


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tbxas1):
     hematopoietic system  homeostasis/metabolism  immune system 

    TBXAS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tbxas1tm1Swl for TBXAS1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TBXAS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TBXAS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TBXAS1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TBXAS1 

    miRNA
    Products:            		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TBXAS1
    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 plasmid: TBXAS1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TBXAS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBXAS1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TBXAS1
    Sirion Biotech Customized adenovirus for overexpression of TBXAS1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for TBXAS1 (see all 27)
    OriGene ORF clones in mouse, rat for TBXAS1
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    GenScript: all cDNA clones in your preferred vector (see all 5): TBXAS1 (NM_030984)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBXAS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBXAS1
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                         Customized lentivirus expression plasmids for stable overexpression of TBXAS1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for TBXAS1
    LifeMap BioReagents: cell line associated with TBXAS1: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBXAS1


    Pathways & Interactions
    for TBXAS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TBXAS1 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
    		Synthesis of Prostaglandins (PG) and Thromboxanes (TX)0.42
    		C20 prostanoid biosynthesis0.40
    		Prostaglandin 2 biosynthesis and metabolism FM0.42
    2Arachidonic acid metabolism
    		Arachidonic acid metabolism0.44
    		HETE and HPETE biosynthesis and metabolism0.35
    		Arachidonic acid metabolism0.44
    3Metabolism
    		Metabolism0.40
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.40
    4Cytochrome P450 - arranged by substrate type
    		Cytochrome P450 - arranged by substrate type0.75
    		Phase 1 - Functionalization of compounds0.74
    5Biological oxidations
    		Biological oxidations0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    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
    C20 prostanoid biosynthesis

    5/8        Reactome Pathways for TBXAS1 (see all 8)
        Cytochrome P450 - arranged by substrate type
    Eicosanoids
    Metabolism
    Arachidonic acid metabolism
    Biological oxidations

    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006690icosanoid metabolic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0019369arachidonic acid metabolic process TAS--
    GO:0019371cyclooxygenase pathway TAS--
    GO:0030644cellular chloride ion homeostasis ----

    TBXAS1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TBXAS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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

    Browse Tocris compounds for TBXAS1 (THAS)

    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 inferred 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

    Transcripts
    for TBXAS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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 ENST00000473948 ENST00000425687 ENST00000474763
    ENST00000481440 ENST00000438104 ENST00000336425 ENST00000448866 ENST00000422328
    ENST00000492560 ENST00000455353 ENST00000458722 ENST00000411653 ENST00000476637
    ENST00000462275(uc011kqu.2) ENST00000414041 ENST00000469630
    miRNA
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    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 plasmid: TBXAS1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TBXAS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBXAS1
    Clone
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    OriGene ORF clones in mouse, rat for TBXAS1
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    GenScript: all cDNA clones in your preferred vector (see all 5): TBXAS1 (NM_030984)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBXAS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBXAS1
    Sirion Biotech Customized lentivirus for stable overexpression of TBXAS1 
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    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TBXAS1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBXAS1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBXAS1

    Additional mRNA 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):

    CB117531 AL551161 CB121763 AA907907 BG326666 CA437040 BM673654 CD368493 
    BC014117 BG255550 BM672386 CD367977 AU099213 AW615299 BC041157 CR625096 
    BQ030101 BU616000 AI872272 BQ027613 BQ101037 AU076426 BQ710761 BU617092 

    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

    Expression
    for TBXAS1 gene

    (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)      TBXAS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAGGATAAG
    TBXAS1 Expression
    About this image


    TBXAS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Paraxial Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
             skeleton/axial skeleton   
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
     
     Mesoderm (Gastrulation Derivatives)
             skeleton/axial skeleton   
     
     Eye (Sensory Organs)
             Human Trabecular Meshwork Cells (HTMC)   
     
     Somite (Muscoskeletal System)
             skeleton/axial skeleton   

    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
    for TBXAS1 gene

    (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 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Tbxas11 , 5 thromboxane A synthase 1, platelet1, 5 82.86(n)1
    81.61(a)1    		   6 (17.85 cM)5
    213911  NM_011539.31  NP_035669.31 
     388754045 
    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
    		 thromboxane A synthase 1 (platelet)
    		 59(a)
    		 1 ↔ 1
    		 5(16882913-17160003)
    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
    for TBXAS1 gene

    (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  CYP3A432  CYP3A42  CYP4A222  CYP3A72  
    CYP4V22  CYP4B12  CYP3A52  CYP4A112  CYP4Z12  CYP4F122  CYP4X12  
    7 SIMAP similar genes for TBXAS1 using alignment to 12 protein entries:     THAS_HUMAN (see all proteins):
    thromboxane synthase    CYP3A5    CYP3A43    CYP3A43/CYP3A4    CYP3A4    CYP3A7
    CYP2E1

    TBXAS1 for paralogs           About GeneDecksing



    Genomic Variants
    for TBXAS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/5274 SNPs in TBXAS1 are shown (see all 5274)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0443894
    		Ghosal hematodiaphyseal dysplasia (GHDD)4--see VAR_0443892 G W mis40--------
    VAR_0362944
    		A breast cancer sample4--see VAR_0362942 R W mis40--------
    VAR_0443904
    		Ghosal hematodiaphyseal dysplasia (GHDD)4--see VAR_0443902 L P mis40--------
    VAR_0443884
    		Ghosal hematodiaphyseal dysplasia (GHDD)4--see VAR_0443882 R Q mis40--------
    VAR_0443864
    		Ghosal hematodiaphyseal dysplasia (GHDD)4--see VAR_0443862 L P mis40--------
    rs1400052851,2
    		Cpathogenic1142973741(+) CTATCT/CTGGTC 11 /P /L mis11Minor allele frequency- C:0.00NA 4552
    rs1994221171,2
    		Cpathogenic1143078122(+) CACACG/AGGAGG 11 /Q /R mis11Minor allele frequency- A:0.00EU 1323
    rs1994221161,2
    		Cpathogenic1143080140(+) GCCTCA/G/TGGGTG 10 G W mis1 int11EU 1305
    rs1994221141,2
    		Cpathogenic1143080159(+) GCTGCC/TTGAGG 10 P L mis1 int10--------
    VAR_0183804
    		----see VAR_0183802 R Q mis40--------

    HapMap Linkage Disequilibrium report for TBXAS1 (139476850 - 139720125 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for TBXAS1 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2735236CNV Deletion23290073
    esv2676633CNV Deletion23128226
    esv2735212CNV Deletion23290073
    esv2735234CNV Deletion23290073
    esv2671572CNV Deletion23128226
    esv2735235CNV Deletion23290073
    nsv365428CNV Loss16902084
    nsv464733CNV Loss19166990
    nsv831156CNV Loss17160897
    nsv889244CNV Loss21882294


    Human Gene Mutation Database (HGMD): TBXAS1

    Locus Specific Mutation Databases (LSDB): TBXAS1
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    Disorders / Diseases
    for TBXAS1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 274180   
    OMIM disorders: 231095  
    UniProtKB/Swiss-Prot: THAS_HUMAN, P24557
  • Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=Thromboxane synthetase deficiency has been detected in some patients with a bleeding disorder due to
    platelet dysfunction

    • 20/23 diseases for TBXAS1 (see all 23):    About MalaCards
    aregenerative anemia    cytochrome p450    bone density    autonomic neuropathy
    cerebral infarction    breast cancer susceptibility    narcolepsy    sinusitis
    pituitary adenoma    neuropathy    myocardial infarction    cystic fibrosis
    cerebritis    adenoma    prostatitis    ovarian cancer
    prostate cancer    anemia    hypertension    breast cancer

    1 disease from the University of Copenhagen DISEASES database for TBXAS1:
    Hypertension

    TBXAS1 for disorders           About GeneDecksing

    9 Novoseek inferred 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)

    Genetic Association Database (GAD): TBXAS1
    Human Genome Epidemiology (HuGE) Navigator: TBXAS1 (20 documents)

    Export disorders for TBXAS1 gene to outside databases

    Publications
    for TBXAS1 gene

    (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 137):
    (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. Association of polymorphisms in thromboxane A2 receptor and thromboxane A synthase 1 with cerebral infarction in a Korean population. (PubMed id 19403042)1, 4, 9 Park S.A....Shin H.D. (2009)
    4. Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). (PubMed id 18264100)1, 2, 9 Genevieve D.... Cormier-Daire V. (2008)
    5. Genomic structure and polymorphism of the human thromboxane synthase-encoding gene. (PubMed id 8964509)1, 3, 9 Baek S.J....Shen R.F. (1996)
    6. Characterization of the human gene (TBXAS1) encoding thromboxane synthase. (PubMed id 7925341)1, 2, 9 Miyata A....Tanabe T. (1994)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    9. [Association of the Pro1770Leu polymorphism in CYP5A1 gene with myocardial infarction in Uigur population of Xinjiang]. (PubMed id 20931532)1, 4 Wang B.Z....Yu Z.X. (2010)
    10. Identification of fetal and maternal single nucleotid e polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PubMed id 20452482)1, 4 Romero R....Menon R. (2010)

    External Searches for TBXAS1 gene

    (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)

    Genome Databases showing TBXAS1 gene

    (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

    Other Databases showing TBXAS1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TBXAS1 gene

    (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

    Intellectual Property
    for TBXAS1 gene

    (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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