TBXAS1 - thromboxane A synthase 1 Gene

Also Known as TS; TXS; CYP5; THAS; TXAS; CYP5A1; GHOSAL; BDPLT14

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6916

About TBXAS1

Cytogenetic location: 7q34 Genomic coordinates (GRCh38): 7:139,778,242-140,020,293 (from NCBI)

This gene has 22 transcripts (splice variants), 219 orthologues and is associated with 3 phenotypes. Broad expression in spleen (RPKM 5.9), appendix (RPKM 4.4) and 23 other tissues.

Summary

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]

TBXAS1 Products (8)

mRNA	Protein	Name
NM_001061.7	NP_001052.3	thromboxane-A synthase isoform 1
NM_001130966.5	NP_001124438.2	thromboxane-A synthase isoform 1
NM_001166253.4	NP_001159725.2	thromboxane-A synthase isoform 3
NM_001166254.4	NP_001159726.1	thromboxane-A synthase isoform 4
NM_001314028.4	NP_001300957.1	thromboxane-A synthase isoform 5
NM_001366537.3	NP_001353466.1	thromboxane-A synthase isoform 6
NM_001366538.2	NP_001353467.1	thromboxane-A synthase isoform 7
NM_030984.6	NP_112246.3	thromboxane-A synthase isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables heme binding	IDA IDA: Inferred from direct assay	11097184	GOA
enables hydroperoxy icosatetraenoate dehydratase activity	IDA IDA: Inferred from direct assay	17459323	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA
enables thromboxane-A synthase activity	IDA IDA: Inferred from direct assay	11297515	GOA
enables thromboxane-A synthase activity	IMP IMP: Inferred from mutant phenotype	11097184	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in icosanoid metabolic process	IDA IDA: Inferred from direct assay	17459323	GOA
involved in prostaglandin biosynthetic process	IMP IMP: Inferred from mutant phenotype	11097184	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	8366093	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TBXAS1 Protein Structure

p450

0
100
200
300
400
500
533 a.a.

Protein Preferred Names	Protein Names
thromboxane-A synthase	TXA synthase

TBXAS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TBXAS1	P24557	EEF1A2	Homo sapiens	Q05639	Anti Tag CoIP	28514442
Intra	TBXAS1	P24557	EEF1A2	Homo sapiens	Q05639	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

TBXAS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82925	Thromboxane A Synthase Antibody (YA2670)	WB	Human, Mouse

Related Diseases

Diseases	Alias
Ghosal Hematodiaphyseal Dysplasia	Ghosal Syndrome Ghosal Hematodiaphyseal Syndrome GHDD Diaphyseal Dysplasia-Anemia Syndrome Ghosal Hematodiaphyseal Dysplasia Syndrome Diaphyseal Dysplasia Associated With Anemia Ghosal Hemato-Diaphyseal Dysplasia Ghosal-Type Hemato-Diaphyseal Dysplasia
Bleeding Disorder, Platelet-Type, 14	Thromboxane Synthetase Deficiency BDPLT14 Platelet-Type Bleeding Disorder 14 Thromboxane Synthase Deficiency
Aregenerative Anemia	Refractory Anemias
Bleeding Disorder, Platelet-Type, 12	BDPLT12 Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet Pghs1 Deficiency Platelet Cyclooxygenase 1 Deficiency Platelet Cox1 Deficiency Platelet-Type Bleeding Disorder 12 Platelet Prostaglandin-Endoperoxide Synthase 1 Deficiency
Cerebral Arteritis	Brain Endarteritis Cerebral Or Cerebrospinal Endarteritis Brain Arteritis
Camurati-Engelmann Disease	Progressive Diaphyseal Dysplasia Ced Engelmann Disease Diaphyseal Dysplasia 1, Progressive Pdd Diaphyseal Dysplasia Dpd1 Camurati-Engelmann Syndrome CAEND Engelman'S Disease Diaphyseal Hyperostosis Diaphyseal Osteosclerosis
Pancytopenia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14286	TBXAS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21954	Tbxas1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28471	Tbxas1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TBXAS1	RGD	RGD:3826
Bos taurus	TBXAS1	VGNC	VGNC:35674
Mus musculus	TBXAS1	MGD	MGI:98497
Macaca mulatta	TBXAS1	VGNC	VGNC:78278
Canis familiaris	TBXAS1	VGNC	VGNC:47178
Felis catus	TBXAS1	VGNC	VGNC:66011