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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 simi... See more...
Aliases for TBXAS1 Gene
Aliases for TBXAS1 Gene
External Ids for TBXAS1 Gene
- HGNC: 11609
- Entrez Gene: 6916
- Ensembl: ENSG00000059377
- OMIM: 274180
- UniProtKB: P24557
Previous GeneCards Identifiers for TBXAS1 Gene
- GC07P137799
- GC07P138808
- GC07P138936
- GC07P138982
- GC07P139124
- GC07P139476
- GC07P133772
Summaries 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) is a Protein Coding gene. Diseases associated with TBXAS1 include Ghosal Hematodiaphyseal Dysplasia and Bleeding Disorder, Platelet-Type, 14. Among its related pathways are Cytochrome P450 - arranged by substrate type and Eicosanoid Synthesis. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen.
Additional gene information for TBXAS1 Gene
- Monarch Initiative
- Search for TBXAS1 at DataMed
- Search for TBXAS1 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBXAS1 Gene
Genomics for TBXAS1 Gene
GeneHancer (GH) Regulatory Elements for TBXAS1 Gene
Promoters and enhancers for TBXAS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TBXAS1 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBXAS1
- Top Transcription factor binding sites by QIAGEN in the TBXAS1 gene promoter:
-
- C/EBPalpha
- FOXO1
- FOXO1a
- GATA-1
- GATA-2
- GATA-3
- PPAR-gamma2
- RP58
- Sox9
- STAT1
Genomic Locations for TBXAS1 Gene
Genomic Locations for TBXAS1 Gene
- chr7:139,777,051-140,020,325
- (GRCh38/hg38)
- Size:
- 243,275 bases
- Orientation:
- Plus strand
- chr7:139,476,850-139,720,125
- (GRCh37/hg19)
- Size:
- 243,276 bases
- Orientation:
- Plus strand
Genomic View for TBXAS1 Gene
Genes around TBXAS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q34 by HGNC
- 7q34 by Entrez Gene
- 7q34 by Ensembl
TBXAS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TBXAS1 Gene
Proteins for TBXAS1 Gene
-
Protein details for TBXAS1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P24557-THAS_HUMAN
- Recommended name:
- Thromboxane-A synthase
- Protein Accession:
- P24557
- B4DJG6
- E7EMU9
- E7EP08
- E7ESB5
- O14987
- Q16843
- Q16844
- Q8IUN1
- Q96CN2
- Q9GZW4
- Q9HD77
- Q9HD78
- Q9HD79
- Q9HD80
- Q9HD81
- Q9HD82
- Q9HD83
- Q9HD84
Protein attributes for TBXAS1 Gene
- Size:
- 533 amino acids
- Molecular mass:
- 60518 Da
- Cofactor:
- Name=heme; Xref=ChEBI:CHEBI:30413;
- Quaternary structure:
-
- Monomer.
- SequenceCaution:
-
- Sequence=AAA60617.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAA60618.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAC01761.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAC01761.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAF99269.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAF99270.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAF99271.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAF99272.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAF99273.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAF99274.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAF99275.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAF99276.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAF99277.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAF99278.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAF99279.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH41157.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAG58828.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=EAW83934.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for TBXAS1 Gene
Selected DME Specific Peptides for TBXAS1 Gene
- P24557:
-
- ETLRMYPPAFRFTR
- FFRQGFWES
- AVGALHHDP
- VVASVAFG
- LIRNVIALRD
- GYYLGRRM
Post-translational modifications for TBXAS1 Gene
Other Protein References for TBXAS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences TS / Thromboxane Synthase Antibody (LS-B14877) and TS / Thromboxane Synthase Antibody (LS-B1610)
- Creative Diagnostics Anti-TBXAS1 monoclonal antibody, clone 2C9
-
Custom Antibody ServicesOriGene Antibodies for TBXAS1
- AP51174PU-N
- CF501357
- CF501358
- CF501364
- CF501365
- CF501366
- CF501379
- CF501380
- TA313205
- TA332490
- TA337958
- TA338328
- TA349856
- TA501357
- TA501357S
- TA501358
- TA501358S
- TA501364
- TA501364S
- TA501365
- TA501365S
- TA501366
- TA501366S
- TA501379
- TA501379S
- TA501380
- TA501380S
- TA600230
- TA600231
- TA600232
- TA600233
- TA600234
- TA700230
- TA700231
- TA700232
- TA700233
- TA700234
- Novus Biologicals Antibodies for TBXAS1
-
Abcam antibodies for TBXAS1
- Invitrogen Antibodies for TBXAS1 (AFLGC-TBXAS1)
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for TBXAS1
- Origene Custom Protein Services for TBXAS1
- antibodies-online: Show 11 available TBXAS1 Proteins ranked by validation data
- Compare Top TBXAS1 Proteins
-
Quality Products:
-
Abcam proteins for TBXAS1
Assay Products
- Aviva Systems Biology TBXAS1 ELISA Kit (Human) (OKEH02147)
- antibodies-online: Show 18 available TBXAS1 Elisa Kits ranked by validation data
- Compare Top TBXAS1 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for TBXAS1
Domains & Families for TBXAS1 Gene
Gene Families for TBXAS1 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- FDA approved drug targets
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for TBXAS1 Gene
- Blocks:
-
- E-class P450 group I signature
- CYP3A P450 family signature
- Group II E-class P450 signature
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TBXAS1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ52771, highly similar to Thromboxane-A synthase (EC 5.3.99.5) (B7Z6W1_HUMAN)
- TBXAS1 protein (Q96CN2_HUMAN)
- Cytochrome P450 5A1 (THAS_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P24557- Family:
-
- Belongs to the cytochrome P450 family.
Function for TBXAS1 Gene
Molecular function for TBXAS1 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=prostaglandin H2 = thromboxane A2; Xref=Rhea:RHEA:17137, ChEBI:CHEBI:57405, ChEBI:CHEBI:57445; EC=5.3.99.5;.
- GENATLAS Biochemistry:
- thromboxane synthase,cytochrome p450 superfamily
Enzyme Numbers (IUBMB) for TBXAS1 Gene
Phenotypes From GWAS Catalog for TBXAS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004497 | monooxygenase activity | IEA | -- |
| GO:0004796 | thromboxane-A synthase activity | TAS,IEA | -- |
| GO:0005506 | iron ion binding | IEA | -- |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0016705 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | IEA | -- |
Phenotypes for TBXAS1 Gene
- MGI mutant phenotypes for TBXAS1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for TBXAS1:
Animal Models for TBXAS1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TBXAS1 - Select products 50% OFF >
- * TBXAS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TBXAS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBXAS1
- genomics-online: gRNA clones - Search results for available TBXAS1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBXAS1
miRNA for TBXAS1 Gene
- miRTarBase miRNAs that target TBXAS1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TBXAS1
- Browse OriGene Inhibitory RNA Products For TBXAS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBXAS1
- genomics-online: shRNA clones - Search results for available TBXAS1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for TBXAS1 - Select products 50% OFF >
- * TBXAS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208546
- MR208546
- MR208546L3
- MR208546L4
- RC208028
- RC208028L3
- RC208028L4
- RC224686
- RC224686L3
- RC224686L4
- RC225917
- RC225917L3
- RC225917L4
- RC228471
- RC228471L3
- RC228471L4
- RC228912
- RC228912L3
- RC228912L4
- RG208028
- RG224686
- RG225917
- RG228471
- RG228912
- RR208104
- RR208104L3
- RR208104L4
- MR208546L3V
- MR208546L4V
- RC208028L3V
- RC208028L4V
- RC224686L3V
- RC224686L4V
- RC225917L3V
- RC225917L4V
- RC228471L3V
- RC228471L4V
- RC228912L3V
- RC228912L4V
- RR208104L3V
- RR208104L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TBXAS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBXAS1
- genomics-online: cdna clones - Search results for available TBXAS1 gene related products
- orf clones - Search results for available TBXAS1 gene related products
Cell Line Products
- ESI BIO PureStem 7PEND24, NCr-fac & Meso-prx Progenitor for TBXAS1
-
Horizon Cell Lines for TBXAS1
No data available for Transcription Factor Targets and HOMER Transcription for TBXAS1 Gene
Localization for TBXAS1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TBXAS1 Gene
- Endoplasmic reticulum membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 4 |
| plasma membrane | 3 |
| extracellular | 2 |
| nucleus | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TBXAS1 Gene
Pathways & Interactions for TBXAS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type |
.01
|
|
| 2 | Metabolism |
.40
|
|
| 3 | Arachidonic acid metabolism | ||
| 4 | Linoleic acid metabolism | ||
| 5 | Platelet activation | ||
Pathways by source for TBXAS1 Gene
3 BioSystems pathways for TBXAS1 Gene
8 Reactome pathways for TBXAS1 Gene
3 KEGG pathways for TBXAS1 Gene
2 GeneGo (Thomson Reuters) pathways for TBXAS1 Gene
- HETE and HPETE biosynthesis and metabolism
- Prostaglandin 2 biosynthesis and metabolism FM
Interacting Proteins for TBXAS1 Gene
GPS-Prot Interaction Network for TBXAS1
SIGNOR curated interactions for TBXAS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006631 | fatty acid metabolic process | IEA | -- |
| GO:0006633 | fatty acid biosynthetic process | IEA | -- |
| GO:0006690 | icosanoid metabolic process | TAS | -- |
| GO:0006693 | prostaglandin metabolic process | IEA | -- |
Drugs & Compounds for TBXAS1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Aspirin | Approved, Vet_approved | Pharma | Channel blocker | 1440 | ||
| Sulfasalazine | Approved | Pharma | Inhibition, Inhibitor, Target, antagonist | NF-κB activation inhibitor | 81 | |
| Ridogrel | Experimental | Pharma | Target, inhibitor | 0 | ||
| dazoxiben | Experimental | Pharma | Target, inhibitor | 0 | ||
| NM-702 | Investigational | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Thromboxane |
|
66719-58-2 | ||||
| Thromboxane A2 |
|
57576-52-0 | ||||
| Prostaglandin H2 |
|
42935-17-1 |
|
(2) ApexBio Compounds for TBXAS1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| Ozagrel | Thromboxane A2 synthetase inhibitor | 82571-53-7 |
| Ozagrel HCl | 78712-43-3 |
Transcripts for TBXAS1 Gene
mRNA/cDNA for TBXAS1 Gene
- 8 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000336425 2185 bps (ENST00000336425.10)
- ENST00000411653 1792 bps (ENST00000411653.6)
- ENST00000414041 565 bps (ENST00000414041.2)
- ENST00000416849 2505 bps (ENST00000416849.6)
- ENST00000422328 1967 bps (ENST00000422328.6)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TBXAS1 - Select products 50% OFF >
- * TBXAS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TBXAS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBXAS1
- genomics-online: gRNA clones - Search results for available TBXAS1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for TBXAS1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TBXAS1
- Browse OriGene Inhibitory RNA Products For TBXAS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBXAS1
- genomics-online: shRNA clones - Search results for available TBXAS1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for TBXAS1 - Select products 50% OFF >
- * TBXAS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208546
- MR208546
- MR208546L3
- MR208546L4
- RC208028
- RC208028L3
- RC208028L4
- RC224686
- RC224686L3
- RC224686L4
- RC225917
- RC225917L3
- RC225917L4
- RC228471
- RC228471L3
- RC228471L4
- RC228912
- RC228912L3
- RC228912L4
- RG208028
- RG224686
- RG225917
- RG228471
- RG228912
- RR208104
- RR208104L3
- RR208104L4
- MR208546L3V
- MR208546L4V
- RC208028L3V
- RC208028L4V
- RC224686L3V
- RC224686L4V
- RC225917L3V
- RC225917L4V
- RC228471L3V
- RC228471L4V
- RC228912L3V
- RC228912L4V
- RR208104L3V
- RR208104L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TBXAS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TBXAS1
- genomics-online: cdna clones - Search results for available TBXAS1 gene related products
- orf clones - Search results for available TBXAS1 gene related products
| 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: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - |
Relevant External Links for TBXAS1 Gene
- GeneLoc Exon Structure for
- TBXAS1
Expression for TBXAS1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Blood (Hematopoietic System)
- Neural Crest (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
-
Spleen (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for TBXAS1 Gene
This gene is overexpressed in Whole Blood (x27.3) and Spleen (x4.8).
This gene is overexpressed in Platelet (29.4), Peripheral blood mononuclear cells (14.9), and Spleen (8.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TBXAS1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBXAS1
SOURCE GeneReport for Unigene cluster for TBXAS1 Gene:
Hs.520757mRNA Expression by UniProt/SwissProt for TBXAS1 Gene:
P24557-THAS_HUMAN
Tissue specificity:
Platelets, lung, kidney, spleen, macrophages and lung fibroblasts.
Evidence on tissue expression from TISSUES for TBXAS1 Gene
- Blood(4.5)
- Lung(4.5)
- Nervous system(4.5)
- Liver(4.4)
- Spleen(2.1)
- Bone(2)
- Heart(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TBXAS1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- lymphatic
- respiratory
- skeleton
Regions:
Head and neck:
- brain
- face
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- nose
- skull
Thorax:
- chest wall
- clavicle
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- liver
- spleen
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- red blood cell
- skin
- spinal column
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for TBXAS1
-
OriGene qPCR primer pairs and template standards for TBXAS1
- genomics-online: primer clones - Search results for available TBXAS1 gene related products
Gene Expression Assay Products
Orthologs for TBXAS1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TBXAS1 31 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TBXAS1 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | TBXAS1 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Tbxas1 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Tbxas1 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TBXAS1 31 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | TBXAS1 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TBXAS1 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | TBXAS1 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tbxas1 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tbxas1 31 30 |
|
OneToOne | |
| wufk19d08 30 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Cyp6a23 31 32 30 |
|
OneToMany | |
| Cyp6a18 31 32 |
|
OneToMany | |||
| Cyp6a13 31 32 |
|
OneToMany | |||
| Cyp9c1 31 32 |
|
OneToMany | |||
| Cyp6v1 31 32 |
|
OneToMany | |||
| Cyp6a22 31 |
|
OneToMany | |||
| Cyp9h1 31 |
|
OneToMany | |||
| Cyp6a20 32 |
|
|
|||
| Cyp9b1 31 |
|
OneToMany | |||
| Cyp6a21 31 32 |
|
OneToMany | |||
| Cyp6a2 31 |
|
OneToMany | |||
| Cyp6a19 31 32 |
|
OneToMany | |||
| Cyp6a17 31 |
|
OneToMany | |||
| Cyp6a8 31 32 |
|
OneToMany | |||
| Cyp6w1 31 32 |
|
OneToMany | |||
| Cyp6d4 31 32 |
|
OneToMany | |||
| Cyp6a9 31 32 |
|
OneToMany | |||
| Cyp6g2 31 32 |
|
OneToMany | |||
| Cyp6t1 31 32 |
|
OneToMany | |||
| Cyp9b2 31 |
|
OneToMany | |||
| Cyp9f2 31 |
|
OneToMany | |||
| Cyp6u1 31 |
|
OneToMany | |||
| Cyp6g1 31 |
|
OneToMany | |||
| Cyp6t3 31 |
|
OneToMany | |||
| Cyp6d5 31 |
|
OneToMany | |||
| Cyp308a1 31 |
|
OneToMany | |||
| Cyp28d2 31 |
|
OneToMany | |||
| Cyp28d1 31 |
|
OneToMany | |||
| Cyp317a1 31 |
|
OneToMany | |||
| Cyp6d2 31 |
|
OneToMany | |||
| Cyp28c1 31 |
|
OneToMany | |||
| Cyp309a2 31 |
|
OneToMany | |||
| Cyp28a5 31 |
|
OneToMany | |||
| Cyp309a1 31 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | T10B9.7 32 |
|
|
|
| cyp-13A2 31 |
|
OneToMany | |||
| cyp-13A7 31 |
|
OneToMany | |||
| F14F7.2 32 |
|
|
|||
| T10B9.8 32 |
|
|
|||
| T10B9.3 32 |
|
|
|||
| cyp-13A8 31 |
|
OneToMany | |||
| cyp-13A4 31 |
|
OneToMany | |||
| T10B9.2 32 |
|
|
|||
| T10B9.1 32 |
|
|
|||
| cyp-13A1 31 |
|
OneToMany | |||
| cyp-13A5 31 |
|
OneToMany | |||
| cyp-13A6 31 |
|
OneToMany | |||
| ZK1320.4 32 |
|
|
|||
| cyp-13A11 31 |
|
OneToMany | |||
| cyp-13A10 31 |
|
OneToMany | |||
| cyp-13A3 31 |
|
OneToMany | |||
| cyp-13B2 31 |
|
OneToMany | |||
| cyp-13A12 31 |
|
OneToMany | |||
| cyp-13B1 31 |
|
OneToMany | |||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | CYP711A1 30 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os01g0701500 30 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany |
- Species where no ortholog for TBXAS1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for TBXAS1 Gene
- ENSEMBL:
- Gene Tree for TBXAS1 (if available)
- TreeFam:
- Gene Tree for TBXAS1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TBXAS1: view image
Paralogs for TBXAS1 Gene
(7) SIMAP similar genes for TBXAS1 Gene using alignment to 12 proteins:
- THAS_HUMAN
- B7Z6W1_HUMAN
- C9J8N6_HUMAN
- C9JS68_HUMAN
- E7EMU9_HUMAN
- E7ENP0_HUMAN
- E7EP08_HUMAN
- E7EP75_HUMAN
- F8WC80_HUMAN
- F8WD37_HUMAN
- Q86UL7_HUMAN
- Q9UDV3_HUMAN
No data available for Paralogs for TBXAS1 Gene
Variants for TBXAS1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBXAS1 Gene
| SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 713702 | Benign: not provided | 140,007,159(+) | G/A | SYNONYMOUS_VARIANT | |
| 713791 | Benign: not provided | 139,936,304(+) | C/T | SYNONYMOUS_VARIANT | |
| 722772 | Likely Benign: not provided | 140,015,807(+) | C/T | SYNONYMOUS_VARIANT | |
| 746349 | Benign: not provided | 140,015,750(+) | C/T | SYNONYMOUS_VARIANT | |
| 768205 | Benign: not provided | 140,015,742(+) | C/G | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv11622n54 | CNV | loss | 21841781 |
| dgv6641n100 | CNV | gain | 25217958 |
| esv2671572 | CNV | deletion | 23128226 |
| esv2676633 | CNV | deletion | 23128226 |
| esv2735212 | CNV | deletion | 23290073 |
| esv2735234 | CNV | deletion | 23290073 |
| esv2735235 | CNV | deletion | 23290073 |
| esv2735236 | CNV | deletion | 23290073 |
| esv3542517 | CNV | deletion | 23714750 |
| esv3615218 | CNV | loss | 21293372 |
| esv3615219 | CNV | loss | 21293372 |
| esv3615220 | CNV | loss | 21293372 |
| esv3891211 | CNV | loss | 25118596 |
| nsv1076004 | CNV | deletion | 25765185 |
| nsv1125926 | CNV | tandem duplication | 24896259 |
| nsv1135988 | CNV | deletion | 24896259 |
| nsv1145162 | CNV | deletion | 24896259 |
| nsv365428 | CNV | deletion | 16902084 |
| nsv464732 | CNV | gain | 19166990 |
| nsv464733 | CNV | loss | 19166990 |
| nsv608472 | CNV | gain | 21841781 |
| nsv608473 | CNV | loss | 21841781 |
| nsv608474 | CNV | loss | 21841781 |
| nsv608475 | CNV | loss | 21841781 |
| nsv831156 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
92.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.96;
74.64% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TBXAS1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBXAS1 Gene
Disorders for TBXAS1 Gene
(6) MalaCards diseases for TBXAS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ghosal hematodiaphyseal dysplasia |
|
|
| bleeding disorder, platelet-type, 14 |
|
|
| aregenerative anemia |
|
|
| bleeding disorder, platelet-type, 12 |
|
|
| cerebral arteritis |
|
|
Search TBXAS1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
THAS_HUMAN- 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. {ECO:0000269 PubMed:18264100}. 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. {ECO:0000269 PubMed:6101498}.
Additional Disease Information for TBXAS1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for TBXAS1 Gene
Publications for TBXAS1 Gene
- Molecular cloning of human platelet thromboxane A synthase. (PMID: 1714723) Yokoyama C … Tanabe T (Biochemical and biophysical research communications 1991) 2 3 4 23 54
- Association of polymorphisms in thromboxane A2 receptor and thromboxane A synthase 1 with cerebral infarction in a Korean population. (PMID: 19403042) Park SA … Shin HD (BMB reports 2009) 3 23 41 54
- Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). (PMID: 18264100) Geneviève D … Cormier-Daire V (Nature genetics 2008) 3 4 23 54
- Genomic structure and polymorphism of the human thromboxane synthase-encoding gene. (PMID: 8964509) Baek SJ … Shen RF (Gene 1996) 2 3 23 54
- Characterization of the human gene (TBXAS1) encoding thromboxane synthase. (PMID: 7925341) Miyata A … Tanabe T (European journal of biochemistry 1994) 3 4 23 54
ExternalLinks
Products for TBXAS1 Gene
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- MG208546
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- RC228471L4V
- RC228912L3V
- RC228912L4V
- RR208104L3V
- RR208104L4V
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- Abcam antibodies for TBXAS1
- Abcam proteins for TBXAS1
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- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ESI BIO PureStem 7PEND24, NCr-fac & Meso-prx Progenitor for TBXAS1
- Invitrogen Antibodies for TBXAS1 (AFLGC-TBXAS1)
- ApexBio compounds for TBXAS1
- VectorBuilder Custom and pre-made DNA vectors for TBXAS1 (ie. gene expression, shRNA knockdown, CRISPR)
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- antibodies-online: Show 22 available TBXAS1 Antibodies ranked by validation data
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- genomics-online: cdna clones - Search results for available TBXAS1 gene related products
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- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TBXAS1
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Sources for TBXAS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19)