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

    Gene ID: 6916, updated on 3-Apr-2024

    Summary

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    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

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    See TBXAS1 in Genome Data Viewer
    Location:
    7q34
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (139778242..140020293)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (141091534..141333885)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (139478041..139720093)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139226381-139227154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139229072-139229673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139253336-139253836 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139253837-139254337 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 ATAC-STARR-seq lymphoblastoid active region 26765 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:139311135-139311345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18698 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:139365244-139366443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26767 Neighboring gene NANOG hESC enhancer GRCh37_chr7:139377579-139378080 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:139411674-139412500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139415914-139416414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139416415-139416915 Neighboring gene Sharpr-MPRA regulatory region 6205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18700 Neighboring gene Sharpr-MPRA regulatory region 3006 Neighboring gene MPRA-validated peak6784 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:139528736-139529935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26770 Neighboring gene uncharacterized LOC107986853 Neighboring gene Sharpr-MPRA regulatory region 12519 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:139613504-139614703 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:139615605-139616804 Neighboring gene uncharacterized LOC105375532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139637955-139638455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139655263-139655763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139656695-139657195 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139687657-139688158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139688714-139689231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139688159-139688658 Neighboring gene MPRA-validated peak6785 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:139716538-139717038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18701 Neighboring gene MPRA-validated peak6786 silencer Neighboring gene MPRA-validated peak6788 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26773 Neighboring gene poly(ADP-ribose) polymerase family member 12 Neighboring gene uncharacterized LOC124901757

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. TBXAS1 Gene Polymorphism Is Associated with the Risk of Ischemic Stroke of Metabolic Syndrome in a Chinese Han Population. Peng J, et al. Dis Markers, 2022. PMID 35923246, Free PMC Article
    2. Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report. Sudhakar M, et al. Eur J Med Genet, 2022 May. PMID 35395429
    3. Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids. Kim SY, et al. Mol Genet Genomic Med, 2021 Mar. PMID 33595912, Free PMC Article
    4. Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy. Joy P, et al. Am J Med Genet A, 2021 Feb. PMID 33185009
    5. Thromboxane A synthase 1 gene expression and promotor haplotypes are associated with risk of large artery-atherosclerosis stroke in Iranian population. Ramazi S, et al. J Cell Biochem, 2019 Sep. PMID 31026093

    See all (93) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy.
      Title: Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy.
    7. 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.
    8. 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.
    9. 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.
    10. 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-naïve patients with schizophrenia.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ52771

    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 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
    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_054214880.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001061.7 → 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

    2. 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

    3. 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

    4. 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

    5. 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

    6. 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

    7. 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

    8. 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

    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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      139778242..140020293
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      141091534..141333885
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358905.1 → XP_054214880.1  thromboxane-A synthase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P24557.3 GenPept UniProtKB/Swiss-Prot:P24557

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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