TBXAS1 thromboxane A synthase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TBXAS1provided by HGNC
Official Full Name: thromboxane A synthase 1provided by HGNC
Primary source: HGNC:HGNC:11609
See related: Ensembl:ENSG00000059377 MIM:274180; AllianceGenome:HGNC:11609
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TS; TXS; CYP5; THAS; TXAS; CYP5A1; GHOSAL; BDPLT14
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]
Expression: Broad expression in spleen (RPKM 5.9), appendix (RPKM 4.4) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q34

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (139778242..140020293)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (141091534..141333885)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (139478041..139720093)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genome-wide association study implicates the role of TBXAS1 in the pathogenesis of depressive symptoms among the Korean population.
Title: Genome-wide association study implicates the role of TBXAS1 in the pathogenesis of depressive symptoms among the Korean population.
TBXAS1 Gene Polymorphism Is Associated with the Risk of Ischemic Stroke of Metabolic Syndrome in a Chinese Han Population.
Title: TBXAS1 Gene Polymorphism Is Associated with the Risk of Ischemic Stroke of Metabolic Syndrome in a Chinese Han Population.
Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report.
Title: Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report.
Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids.
Title: Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids.
A new insight into subinteractomes of functional antagonists: Thromboxane (CYP5A1) and prostacyclin (CYP8A1) synthases.
Title: A new insight into subinteractomes of functional antagonists: Thromboxane (CYP5A1) and prostacyclin (CYP8A1) synthases.
Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy.
Title: Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy.
Thromboxane A synthase 1 gene expression and promotor haplotypes are associated with risk of large artery-atherosclerosis stroke in Iranian population.
Title: Thromboxane A synthase 1 gene expression and promotor haplotypes are associated with risk of large artery-atherosclerosis stroke in Iranian population.
The available theoretical and experimental data have elucidated the very important role of the thromboxane A2 - thromboxane A synthase - thromboxane A2 receptor axis in the pathogenesis of thrombotic diseases. Systematic studies are required to verify genetic markers in patients at high cardiovascular risk, in order to achieve more effective diagnostics and treatment. [review]
Title: Thromboxane A Synthase: A New Target for the Treatment of Cardiovascular Diseases.
RS41708TT is not only independent risk factor for symptomatic carotid artery or intracranial arterial stenosis, but is also independent risk predictor for neurologic deterioration in ischemic stroke patients.
Title: Variants in COX-2, PTGIS, and TBXAS1 Are Associated with Carotid Artery or Intracranial Arterial Stenosis and Neurologic Deterioration in Ischemic Stroke Patients.
Sequencing revealed two novel biallelic variants of unknown significance within the thromboxane A synthase gene, TBXAS1 (c.266T > C; c.989T > C), bioinformatically predicted to disrupt the protein. TBXAS1 mutations result in Ghosal hematodiaphyseal dysplasia (OMIM 231095), the autosomal recessive syndrome associated with abnormal bone structure and BMF.
Title: Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ghosal hematodiaphyseal dysplasia MedGen: C1856465 OMIM: 231095 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association analysis with gray matter volume as a quantitative phenotype in first-episode treatment-na&#x000ef;ve patients with schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies new susceptibility loci for migraine. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:4585667 (e-PCR)
- UniSTS:67585

TBXAS1 (e-PCR)
- UniSTS:53016

D7S1986 (e-PCR)
- UniSTS:63526

G59443 (e-PCR)
- UniSTS:136751

GDB:3755023 (e-PCR)
- UniSTS:77625

D7S2000 (e-PCR)
- UniSTS:60241

G54648 (e-PCR)
- UniSTS:117849

GDB:1234284 (e-PCR)
- UniSTS:44137

GDB:3755104 (e-PCR)
- UniSTS:28024

STS-T50718 (e-PCR)
- UniSTS:71035

G31117 (e-PCR)
- UniSTS:75643

GDB:4585705 (e-PCR)
- UniSTS:18825

GDB:1318585 (e-PCR)
- UniSTS:66998

D7S2734 (e-PCR)
- UniSTS:20691

GDB:1234290 (e-PCR)
- UniSTS:2548

RH121143 (e-PCR)
- UniSTS:134138

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 12-hydroxyheptadecatrienoic acid synthase activity	TAS Traceable Author Statement more info
enables heme binding	IDA Inferred from Direct Assay more info	PubMed
enables hydroperoxy icosatetraenoate dehydratase activity	IDA Inferred from Direct Assay more info	PubMed
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables monooxygenase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables thromboxane-A synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables thromboxane-A synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables thromboxane-A synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables thromboxane-A synthase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in cyclooxygenase pathway	TAS Traceable Author Statement more info
involved_in icosanoid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in icosanoid metabolic process	TAS Traceable Author Statement more info
involved_in intracellular chloride ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vasoconstriction	IEA Inferred from Electronic Annotation more info
involved_in prostaglandin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to fatty acid	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: thromboxane-A synthase

Names: TXA synthase; cytochrome P450 5A1; cytochrome P450, family 5, subfamily A, polypeptide 1; hydroperoxy icosatetraenoate dehydratase; platelet, cytochrome P450, subfamily V; thromboxane A synthase 1 (platelet)

NP_001052.3

EC 4.2.1.152

EC 5.3.99.5

NP_001124438.2

EC 4.2.1.152

EC 5.3.99.5

NP_001159725.2

EC 4.2.1.152

EC 5.3.99.5

NP_001159726.1

EC 4.2.1.152

EC 5.3.99.5

NP_001300957.1

EC 4.2.1.152

EC 5.3.99.5

NP_001353466.1

EC 4.2.1.152

EC 5.3.99.5

NP_001353467.1

EC 4.2.1.152

EC 5.3.99.5

NP_112246.3

EC 4.2.1.152

EC 5.3.99.5

XP_011514846.1

EC 4.2.1.152

EC 5.3.99.5

XP_054214880.1

EC 4.2.1.152

EC 5.3.99.5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008422.2 RefSeqGene

Range

4867..246944

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_579

mRNA and Protein(s)

NM_001061.7 → NP_001052.3 thromboxane-A synthase isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1, which is also known as isoform TXS-I. Both variants 1 and 3 encode the same isoform.

Source sequence(s)

AC004914, AC004961, AC006021, KF459643

Consensus CDS

CCDS5855.2

UniProtKB/Swiss-Prot

B4DJG6, E7EMU9, E7EP08, E7ESB5, O14987, P24557, Q16843, Q16844, Q8IUN1, Q96CN2, Q9GZW4, Q9HD77, Q9HD78, Q9HD79, Q9HD80, Q9HD81, Q9HD82, Q9HD83, Q9HD84

UniProtKB/TrEMBL

Q53F23

Related

ENSP00000402536.3, ENST00000448866.7

Conserved Domains (1) summary

pfam00067
Location:47 → 530

p450; Cytochrome P450
NM_001130966.5 → NP_001124438.2 thromboxane-A synthase isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as TXS-III) differs in the 5' UTR, compared to variant 1. Both variants 1 and 3 encode the same isoform (1, also known as isoform TXS-I).

Source sequence(s)

AC006021, AK223466, BC014117

Consensus CDS

CCDS5855.2

UniProtKB/Swiss-Prot

B4DJG6, E7EMU9, E7EP08, E7ESB5, O14987, P24557, Q16843, Q16844, Q8IUN1, Q96CN2, Q9GZW4, Q9HD77, Q9HD78, Q9HD79, Q9HD80, Q9HD81, Q9HD82, Q9HD83, Q9HD84

UniProtKB/TrEMBL

Q53F23

Related

ENSP00000338087.7, ENST00000336425.10

Conserved Domains (1) summary

pfam00067
Location:47 → 530

p450; Cytochrome P450
NM_001166253.4 → NP_001159725.2 thromboxane-A synthase isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (4) includes an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (3) that is longer than isoform 1.

Source sequence(s)

AK296069, BM673654

Consensus CDS

CCDS55174.2

UniProtKB/TrEMBL

Q53F23

Related

ENSP00000411274.3, ENST00000458722.6

Conserved Domains (1) summary

pfam00067
Location:47 → 576

p450; Cytochrome P450
NM_001166254.4 → NP_001159726.1 thromboxane-A synthase isoform 4

See identical proteins and their annotated locations for NP_001159726.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translational start codon, compared to variant 1. The encoded isoform (4) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC006021, BC014117, BM673654

Consensus CDS

CCDS55175.1

UniProtKB/TrEMBL

Q53F23

Related

ENSP00000388736.1, ENST00000425687.5

Conserved Domains (1) summary

pfam00067
Location:1 → 463

p450; Cytochrome P450
NM_001314028.4 → NP_001300957.1 thromboxane-A synthase isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (6) uses an alternate splice site in an internal exon, compared to variant 1. The resulting isoform (5) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC004914, AC006021, AK301164, BM673654

UniProtKB/TrEMBL

B4DVP1

Conserved Domains (1) summary

pfam00067
Location:31 → 511

p450; Cytochrome P450
NM_001366537.3 → NP_001353466.1 thromboxane-A synthase isoform 6

Status: REVIEWED

Source sequence(s)

AC004914, AC004961, AC006021, KF459643

UniProtKB/TrEMBL

B4DVP1

Conserved Domains (1) summary

pfam00067
Location:63 → 469

p450; Cytochrome P450
NM_001366538.2 → NP_001353467.1 thromboxane-A synthase isoform 7

Status: REVIEWED

Source sequence(s)

AC004914, CD367977, DC315339

Consensus CDS

CCDS94215.1

UniProtKB/TrEMBL

A0A498U6I9, B7Z6W1, E7EP75

Related

ENSP00000391567.3, ENST00000455353.6

Conserved Domains (1) summary

cl12078
Location:47 → 112

p450; Cytochrome P450
NM_030984.6 → NP_112246.3 thromboxane-A synthase isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2, also known as TXS-II) lacks an alternate exon in the 3' coding region that encodes the heme binding site, compared to transcript variant 1. The encoded isoform (2, also known as isoform TXS-II) lacks thromboxane A synthase activity, has a distinct C-terminus, and is shorter than isoform 1.

Source sequence(s)

AC004914, AC006021, BM673654, M80646

Consensus CDS

CCDS5856.2

UniProtKB/TrEMBL

B4E0M5

Related

ENSP00000411326.3, ENST00000411653.6

Conserved Domains (1) summary

cl12078
Location:47 → 456

p450; Cytochrome P450

RNA

NR_159363.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC006021, BG326666

Related

ENST00000481440.5
NR_159364.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC006021

Related

ENST00000474763.5
NR_159365.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC006021

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

139778242..140020293

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011516544.4 → XP_011514846.1 thromboxane-A synthase isoform X1

UniProtKB/TrEMBL

B4E0M5

Conserved Domains (1) summary

cl12078
Location:48 → 456

p450; Cytochrome P450