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TBXAS1 Gene

protein-coding   GIFtS: 71
GCID: GC07P139476

Thromboxane A Synthase 1 (Platelet)

(Previous names: thromboxane A synthase 1 (platelet, cytochrome P450, subfamily...)
  See TBXAS1-related diseases
at  

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

External Ids:    HGNC: 116091   Entrez Gene: 69162   Ensembl: ENSG000000593777   OMIM: 2741805   UniProtKB: P245573   

Export aliases for TBXAS1 gene to outside databases

Previous GC identifers: GC07P137799 GC07P138808 GC07P138936 GC07P138982 GC07P139124 GC07P133772


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. Diseases associated with TBXAS1 include thromboxane synthase deficiency, and ghosal hematodiaphyseal syndrome. 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


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NC_018918.2  NT_007933.16  
Regulatory elements:
   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 Chromatin IP Primers for TBXAS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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

Selected DME Specific Peptides for TBXAS1 (P24557) (see all 6)
 GYYLGRRM  VVASVAFG  AVGALHHDP  FFRQGFWES 


See TBXAS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

TBXAS1 Human Recombinant Protein Products:

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Novus Biologicals TBXAS1 Lysates
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates
Browse ProSpec Recombinant Proteins
Browse Proteins at Cloud-Clone Corp.

 
Search eBioscience for Proteins for TBXAS1 

 
antibodies-online proteins for TBXAS1 (2 products) 

 
antibodies-online peptides for TBXAS1

TBXAS1 Antibody Products:

EMD Millipore Mono- and Polyclonal Antibodies for the study of TBXAS1
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ThermoFisher Antibodies for TBXAS1
antibodies-online antibodies for TBXAS1 (53 products) 

TBXAS1 Assay Products:

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GenScript Custom Assay Services for TBXAS1
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Browse ELISAs at Cloud-Clone Corp.
Browse CLIAs at Cloud-Clone Corp.
Search eBioscience for ELISAs for TBXAS1 
antibodies-online kits for TBXAS1 (9 products) 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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


Find genes that share domains with TBXAS1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004497monooxygenase activity IEA--
GO:0004796thromboxane-A synthase activity IEA--
GO:0005506iron ion binding IEA--
GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA--
GO:0020037heme binding IEA--
     
Find genes that share ontologies with TBXAS1           About GenesLikeMe


Phenotypes:
     4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tbxas1):
 hematopoietic system  homeostasis/metabolism  immune system  no phenotypic analysis 

Find genes that share phenotypes with TBXAS1           About GenesLikeMe

Animal Models:
     MGI mouse knock-outs for TBXAS1: Tbxas1tm1Swl Tbxas1tm1Okun

   genOway: Develop your customized and physiologically relevant rodent model for TBXAS1

miRNA
Products:
    
miRTarBase miRNAs that target TBXAS1:
hsa-mir-335-5p (MIRT017567)

Block miRNA regulation of human, mouse, rat TBXAS1 using miScript Target Protectors
Selected qRT-PCR 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
Products:
    
OriGene RNAi products in human, mouse, rat for TBXAS1
Predesigned siRNA for gene silencing in human, mouse, rat TBXAS1

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for TBXAS1

Clone
Products:
     
OriGene clones in human, mouse for TBXAS1 (see all 31)
OriGene ORF clones in mouse, rat for TBXAS1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 5): TBXAS1 (NM_030984)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for TBXAS1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBXAS1

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for TBXAS1
ESI BIO PureStem Progenitor for TBXAS1: 
PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBXAS1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
THAS_HUMAN, P24557: Endoplasmic reticulum membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
endoplasmic reticulum5
extracellular2
plasma membrane2
nucleus1

Gene Ontology (GO): 2 cellular component terms:    About this table

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

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(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for TBXAS1 About   (see all 9)  
See pathways by source

SuperPathContained pathways About
1Arachidonic acid metabolism
Arachidonic acid metabolism0.41
Synthesis of Prostaglandins (PG) and Thromboxanes (TX)0.00
Arachidonic acid metabolism0.40
C20 prostanoid biosynthesis0.00
HETE and HPETE biosynthesis and metabolism0.33
2Metabolism
Metabolism0.38
Metabolism of lipids and lipoproteins0.37
Metabolic pathways0.38
3Biological oxidations
Biological oxidations0.56
Phenytoin Pathway, Pharmacokinetics0.00
4Cytochrome P450 - arranged by substrate type
Cytochrome P450 - arranged by substrate type0.75
Eicosanoids0.00
Phase 1 - Functionalization of compounds0.75
5Prostaglandin Synthesis and Regulation
Prostaglandin Synthesis and Regulation


Find genes that share SuperPaths with TBXAS1           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


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

2 Reactome Pathways for TBXAS1
    Eicosanoids
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

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TBXAS1
Interactions:

    GeneGlobe Interaction Network for TBXAS1

STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

Selected Interacting proteins for TBXAS1 (P245572, 3 ENSP000002635524) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
InteractantInteraction Details
GeneCardExternal ID(s)
YWHAZP631043I2D: score=1 
HPGDSENSP000002952564STRING: ENSP00000295256
PTGDSENSP000003606874STRING: ENSP00000360687
PTGESENSP000003423854STRING: ENSP00000342385
PTGES2ENSP000003453414STRING: ENSP00000345341
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Gene Ontology (GO): Selected biological process terms (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 ----

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Enzo Life Sciences drugs & compounds for TBXAS1
  Browse compounds at ApexBio 

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

Selected 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)



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(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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
Selected 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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Selected qRT-PCR 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
Products:
     
OriGene RNAi products in human, mouse, rat for TBXAS1
Predesigned siRNA for gene silencing in human, mouse, rat TBXAS1
Clone
Products:
     
OriGene clones in human, mouse for TBXAS1 (see all 31)
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OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 5): TBXAS1 (NM_030984)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBXAS1
Primer
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OriGene qPCR primer pairs and template standards for TBXAS1
OriGene qSTAR qPCR primer pairs in human, mouse for TBXAS1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TBXAS1
  QuantiTect SYBR Green Assays in human, mouse, rat TBXAS1
  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 

Selected 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 AI738743 

GeneLoc Exon Structure

Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TBXAS1 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 5) fully expand
 
 Brain (Nervous System)    fully expand to see all 4 entries
         Cerebral Cortex
 
 Paraxial Mesoderm (Gastrulation Derivatives)
         PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
 
 Neural Crest (Gastrulation Derivatives)
         PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
 
 Bone (Muscoskeletal System)
         Bone Marrow
 
 Spleen (Hematopoietic System)
TBXAS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TBXAS1 Protein Expression

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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for TBXAS1 gene from Selected species (see all 17)    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) 64.89(n)
62.36(a)
  418101  XM_416334.4  XP_416334.4 
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
Cyp6a231
cytochrome P4503
Cyp6a231
29(a)
(best of 14)3
46.22(n)1
32.89(a)1
  2 60D103
366611  NM_137156.21  NP_611000.21 
worm
(Caenorhabditis elegans)
Secernentea T10B9.73 cytochrome P450 29(a)
(best of 7)
  II(9783728-9787263)   --
thale cress
(Arabidopsis thaliana)
eudicotyledons CYP711A11 CYP711A1 45.8(n)
31.76(a)
  817157  NM_128175.3  NP_565617.2 
rice
(Oryza sativa)
Liliopsida Os01g07015001 Os01g0701500 45.76(n)
31.95(a)
  4326929  NM_001050524.2  NP_001043989.2 


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)
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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

Find genes that share paralogs with TBXAS1           About GenesLikeMe



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for TBXAS1 (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--------
rs1496036601,2
C--133803236(+) TAGAT-/GATAG 
 ATAGATA
GATAG
2 -- int10--------

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

Structural Variations
     Database of Genomic Variants (DGV) Selected 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

The Human Cytochrome P450 Allele Nomenclature Database: TBXAS1 
Human Gene Mutation Database (HGMD): TBXAS1
Locus Specific Mutation Databases (LSDB): TBXAS1

Site Specific Mutation Identification with PCR Assays
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DNA2.0 Custom Variant and Variant Library Synthesis for TBXAS1

(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.)
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OMIM gene information: 274180   
OMIM disorders: 231095  614158  
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

  • 2 diseases for TBXAS1:    
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    thromboxane synthase deficiency    ghosal hematodiaphyseal syndrome

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

    Find genes that share disorders with TBXAS1           About GenesLikeMe

    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

    (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)
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    PubMed articles for TBXAS1 gene, integrated from 10 sources (see all 139):
    (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. (Biochem. Biophys. Res. Commun. 1991)
    2. Amino-terminal topology of thromboxane synthase in the endoplasmic reticulum. (PubMed id 8366093)1, 2, 9 Ruan K.H.... Kulmacz R.J. (J. Biol. Chem. 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. (BMB Rep 2009)
    4. Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). (PubMed id 18264100)1, 2, 9 Genevieve D.... Cormier-Daire V. (Nat. Genet. 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. (Gene 1996)
    6. Characterization of the human gene (TBXAS1) encoding thromboxane synthase. (PubMed id 7925341)1, 2, 9 Miyata A....Tanabe T. (Eur. J. Biochem. 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. (Mol. Med. 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010)
    10. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PubMed id 20452482)1, 4 Romero R....Menon R. (Am. J. Obstet. Gynecol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 6916 HGNC: 11609 AceView: TBXAS1 Ensembl:ENSG00000059377 euGenes: HUgn6916
    ECgene: TBXAS1 Kegg: 6916 H-InvDB: TBXAS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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