TBXAS1 (thromboxane A synthase 1)

2007-02-01  

Identity

HGNC
TBXAS1
LOCATION
7q34
LOCUSID
6916
ALIAS
BDPLT14,CYP5,CYP5A1,GHOSAL,THAS,TS,TXAS,TXS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6916
MIM: 274180
HGNC: 11609
Ensembl: ENSG00000059377

Variants:

dbSNP: 6916
ClinVar: 6916
TCGA: ENSG00000059377
COSMIC: TBXAS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000059377ENST00000336425P24557
ENSG00000059377ENST00000411653P24557
ENSG00000059377ENST00000414041F8WC80
ENSG00000059377ENST00000416849A0A0C4DH47
ENSG00000059377ENST00000422328F8WD37
ENSG00000059377ENST00000425687P24557
ENSG00000059377ENST00000438104C9JS68
ENSG00000059377ENST00000448866P24557
ENSG00000059377ENST00000455353A0A498U6I9
ENSG00000059377ENST00000458722P24557
ENSG00000059377ENST00000650822Q53F23
ENSG00000059377ENST00000652056A0A0A0MSK3

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Arachidonic acid metabolismKEGGko00590
Arachidonic acid metabolismKEGGhsa00590
Metabolic pathwaysKEGGhsa01100
Platelet activationKEGGhsa04611
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Arachidonic acid metabolismREACTOMER-HSA-2142753
Synthesis of Prostaglandins (PG) and Thromboxanes (TX)REACTOMER-HSA-2162123
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
EicosanoidsREACTOMER-HSA-211979

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443450AsthmaDiseaseClinicalAnnotationassociatedPD21449675
PA448497aspirinChemicalClinicalAnnotationassociatedPD21449675

References

Pubmed IDYearTitleCitations
383209932024Genome-wide association study implicates the role of TBXAS1 in the pathogenesis of depressive symptoms among the Korean population.1
383209932024Genome-wide association study implicates the role of TBXAS1 in the pathogenesis of depressive symptoms among the Korean population.1
353954292022Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report.1
359232462022TBXAS1 Gene Polymorphism Is Associated with the Risk of Ischemic Stroke of Metabolic Syndrome in a Chinese Han Population.2
353954292022Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report.1
359232462022TBXAS1 Gene Polymorphism Is Associated with the Risk of Ischemic Stroke of Metabolic Syndrome in a Chinese Han Population.2
331850092021Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy.2
335275892021A new insight into subinteractomes of functional antagonists: Thromboxane (CYP5A1) and prostacyclin (CYP8A1) synthases.3
335959122021Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids.3
331850092021Ghosal hematodiaphyseal dysplasia and response to corticosteroid therapy.2
335275892021A new insight into subinteractomes of functional antagonists: Thromboxane (CYP5A1) and prostacyclin (CYP8A1) synthases.3
335959122021Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids.3
310260932019Thromboxane A synthase 1 gene expression and promotor haplotypes are associated with risk of large artery-atherosclerosis stroke in Iranian population.4
310260932019Thromboxane A synthase 1 gene expression and promotor haplotypes are associated with risk of large artery-atherosclerosis stroke in Iranian population.4
288687932018Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency.5

Citation

Dessen P

TBXAS1 (thromboxane A synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46559/meetings/js/web-card-gene.js