TBXAS1 - thromboxane A synthase 1 Gene

Homo sapiens

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

Gene ID: 6916 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14286	TBXAS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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