TBXAS1 (thromboxane A synthase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6916
Gene name Thromboxane A synthase 1
Gene symbol TBXAS1
Synonyms (NCBI Gene)
BDPLT14CYP5CYP5A1GHOSALTHASTSTXASTXS
Chromosome 7
Chromosome location 7q34
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 prot
SNPs SNP information provided by dbSNP.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
SNP ID Visualize variation Clinical significance Consequence
rs3735354 G>A,C Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant, genic downstream transcript variant
rs140005285 T>C Pathogenic, uncertain-significance Genic downstream transcript variant, intron variant, coding sequence variant, missense variant, 5 prime UTR variant
rs149988492 G>A,C,T Likely-pathogenic Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs199422114 T>C Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant, intron variant
rs199422116 G>A,T Pathogenic Missense variant, coding sequence variant, genic downstream transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT017567 hsa-miR-335-5p Microarray 18185580
MIRT022110 hsa-miR-125b-5p Other 20194440
MIRT438637 hsa-miR-34b-3p Luciferase reporter assay 24115277
MIRT438637 hsa-miR-34b-3p Luciferase reporter assay 24115277
MIRT1415366 hsa-miR-1275 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
EP300 Activation 14565864
ETS1 Repression 14586398
TP53 Repression 14586398
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001516 Process Prostaglandin biosynthetic process IEA
GO:0001516 Process Prostaglandin biosynthetic process IMP 11097184
GO:0004497 Function Monooxygenase activity IEA
GO:0004796 Function Thromboxane-A synthase activity IBA
GO:0004796 Function Thromboxane-A synthase activity IDA 11297515
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
274180 11609 ENSG00000059377
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P24557
Protein name Thromboxane-A synthase (TXA synthase) (TXS) (EC 5.3.99.5) (Cytochrome P450 5A1) (Hydroperoxy icosatetraenoate dehydratase) (EC 4.2.1.152)
Protein function Catalyzes the conversion of prostaglandin H2 (PGH2) to thromboxane A2 (TXA2), a potent inducer of blood vessel constriction and platelet aggregation (PubMed:11097184, PubMed:11297515, PubMed:22735388, PubMed:24009185, PubMed:8436233, PubMed:9873
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 44 → 308 Cytochrome P450 Domain
PF00067 p450 313 → 530 Cytochrome P450 Domain
Tissue specificity TISSUE SPECIFICITY: Platelets, lung, kidney, spleen, macrophages and lung fibroblasts. {ECO:0000269|PubMed:1714723, ECO:0000269|PubMed:7925341}.
Sequence
Sequence length 533
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Arachidonic acid metabolism
Metabolic pathways
Platelet activation 		  Eicosanoids
Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Ghosal hematodiaphyseal dysplasia Pathogenic; Likely pathogenic rs775012519, rs1203779981, rs794727053, rs199422114, rs199422116, rs760698812, rs763326515 RCV001332733
RCV002264889
RCV001542423
RCV004794331
RCV004794333
View all (2 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thromboxane synthetase deficiency Likely pathogenic rs760698812 RCV000768381
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (33)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormal bleeding Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANUS, IMPERFORATE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (131)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 1714723
★★★★★
★☆☆☆☆
Found in Text Mining only
Alacrima Alacrima BEFREE 29255950
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 22951287, 28213365, 30214286
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 27156553, 33595912 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Refractory Refractory anemia Pubtator 27156553 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anencephaly Anencephaly CTD_human_DG 4039891
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia nervosa Pubtator 27086047 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Antisocial Personality Disorder Antisocial Personality Disorder BEFREE 31649591
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 29147944, 30261408, 30616119
★★★★★
★☆☆☆☆
Found in Text Mining only