Format

Send to:

Choose Destination

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

Gene ID: 6916, updated on 1-Jun-2020

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
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

Genomic context

See TBXAS1 in Genome Data Viewer
Location:
7q34
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (139778242..140020321)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (139478047..139720125)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene C-type lectin domain family 2 member L Neighboring gene uncharacterized LOC105375530 Neighboring gene ERH pseudogene 1 Neighboring gene homeodomain interacting protein kinase 2 Neighboring gene uncharacterized LOC107986853 Neighboring gene uncharacterized LOC105375532 Neighboring gene poly(ADP-ribose) polymerase family member 12 Neighboring gene lysine demethylase 7A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ52771

Gene Ontology Provided by GOA

Function Evidence Code Pubs
12-hydroxyheptadecatrienoic acid synthase activity TAS
Traceable Author Statement
more info
 
heme binding IDA
Inferred from Direct Assay
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
monooxygenase activity IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
Inferred from Electronic Annotation
more info
 
thromboxane-A synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thromboxane-A synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
thromboxane-A synthase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
thromboxane-A synthase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
cyclooxygenase pathway TAS
Traceable Author Statement
more info
 
icosanoid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
icosanoid metabolic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
prostaglandin biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
thromboxane-A synthase
Names
TXA synthase
cytochrome P450 5A1
cytochrome P450, family 5, subfamily A, polypeptide 1
platelet, cytochrome P450, subfamily V
thromboxane A synthase 1 (platelet)
NP_001052.3
NP_001124438.2
NP_001159725.2
NP_001159726.1
NP_001300957.1
NP_001353466.1
NP_001353467.1
NP_112246.3
XP_011514846.1
XP_016868059.1
XP_016868060.1
XP_016868061.1
XP_024302669.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_008422.2 RefSeqGene

    Range
    4867..246944
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_579

mRNA and Protein(s)

  1. NM_001061.7NP_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
    CCDS5855.1
    Related
    ENSP00000402536.3, ENST00000448866.6
    Conserved Domains (1) summary
    pfam00067
    Location:47530
    p450; Cytochrome P450
  2. NM_001130966.4NP_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, BM673654
    Consensus CDS
    CCDS5855.1
    Related
    ENSP00000498517.1, ENST00000650822.1
    Conserved Domains (1) summary
    pfam00067
    Location:47530
    p450; Cytochrome P450
  3. NM_001166253.3NP_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
    CCDS55174.1
    Related
    ENSP00000411274.3, ENST00000458722.6
    Conserved Domains (1) summary
    pfam00067
    Location:47576
    p450; Cytochrome P450
  4. NM_001166254.3NP_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/Swiss-Prot
    P24557
    Related
    ENSP00000388736.1, ENST00000425687.5
    Conserved Domains (1) summary
    pfam00067
    Location:1463
    p450; Cytochrome P450
  5. NM_001314028.3NP_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:31511
    p450; Cytochrome P450
  6. NM_001366537.2NP_001353466.1  thromboxane-A synthase isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC004914, AC004961, AC006021, KF459643
    Conserved Domains (1) summary
    pfam00067
    Location:63469
    p450; Cytochrome P450
  7. NM_001366538.2NP_001353467.1  thromboxane-A synthase isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC004914, CD367977, DC315339
    Related
    ENSP00000391567.3, ENST00000455353.6
    Conserved Domains (1) summary
    cl12078
    Location:47112
    p450; Cytochrome P450
  8. NM_030984.5NP_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
    CCDS5856.1
    Related
    ENSP00000411326.3, ENST00000411653.6
    Conserved Domains (1) summary
    cl12078
    Location:47456
    p450; Cytochrome P450

RNA

  1. NR_159363.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006021, BG326666
    Related
    ENST00000481440.5
  2. NR_159364.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006021
    Related
    ENST00000474763.5
  3. NR_159365.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006021

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    139778242..140020321
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516544.3XP_011514846.1  thromboxane-A synthase isoform X2

    Conserved Domains (1) summary
    cl12078
    Location:48456
    p450; Cytochrome P450
  2. XM_017012570.2XP_016868059.1  thromboxane-A synthase isoform X3

  3. XM_017012571.2XP_016868060.1  thromboxane-A synthase isoform X5

  4. XM_017012572.2XP_016868061.1  thromboxane-A synthase isoform X6

  5. XM_024446901.1XP_024302669.1  thromboxane-A synthase isoform X4

    Conserved Domains (1) summary
    pfam00067
    Location:1445
    p450; Cytochrome P450
Support Center