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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]
TBXAS1 (Thromboxane A Synthase 1) is a Protein Coding gene. Diseases associated with TBXAS1 include Ghosal Hematodiaphyseal Dysplasia and Aregenerative Anemia. Among its related pathways are Eicosanoid Synthesis and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004497 | monooxygenase activity | IEA | -- |
GO:0004796 | thromboxane-A synthase activity | IEA,TAS | -- |
GO:0005506 | iron ion binding | IEA | -- |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016705 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type |
.01
|
|
2 | Metabolism |
.40
|
|
3 | Arachidonic acid metabolism | ||
4 | Linoleic acid metabolism | ||
5 | Platelet activation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001516 | prostaglandin biosynthetic process | IMP | 11097184 |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006631 | fatty acid metabolic process | IEA | -- |
GO:0006633 | fatty acid biosynthetic process | IEA | -- |
GO:0006690 | icosanoid metabolic process | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Aspirin | Approved, Vet_approved | Pharma | Channel blocker | 1512 | ||
Sulfasalazine | Approved | Pharma | Inhibitor, Inhibition, Target, antagonist | NF-κB activation inhibitor | 84 | |
Ridogrel | Experimental | Pharma | Target, inhibitor | 0 | ||
dazoxiben | Experimental | Pharma | Target, inhibitor | 0 | ||
NM-702 | Investigational | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Thromboxane |
|
66719-58-2 | ||||
Thromboxane A2 |
|
57576-52-0 | ||||
Prostaglandin H2 |
|
42935-17-1 |
|
Compound | Action | Cas Number |
---|---|---|
Ozagrel | Thromboxane A2 synthetase inhibitor | 82571-53-7 |
Ozagrel HCl | 78712-43-3 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TBXAS1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TBXAS1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TBXAS1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tbxas1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tbxas1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TBXAS1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TBXAS1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TBXAS1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TBXAS1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tbxas1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tbxas1 30 31 |
|
OneToOne | |
wufk19d08 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cyp6a23 30 31 32 |
|
OneToMany | |
Cyp6a18 31 32 |
|
OneToMany | |||
Cyp6a13 31 32 |
|
OneToMany | |||
Cyp9c1 31 32 |
|
OneToMany | |||
Cyp6v1 31 32 |
|
OneToMany | |||
Cyp6a22 31 |
|
OneToMany | |||
Cyp9h1 31 |
|
OneToMany | |||
Cyp6a20 32 |
|
|
|||
Cyp9b1 31 |
|
OneToMany | |||
Cyp6a21 31 32 |
|
OneToMany | |||
Cyp6a2 31 |
|
OneToMany | |||
Cyp6a19 31 32 |
|
OneToMany | |||
Cyp6a17 31 |
|
OneToMany | |||
Cyp6a8 31 32 |
|
OneToMany | |||
Cyp6w1 31 32 |
|
OneToMany | |||
Cyp6d4 31 32 |
|
OneToMany | |||
Cyp6a9 31 32 |
|
OneToMany | |||
Cyp6g2 31 32 |
|
OneToMany | |||
Cyp6t1 31 32 |
|
OneToMany | |||
Cyp9b2 31 |
|
OneToMany | |||
Cyp9f2 31 |
|
OneToMany | |||
Cyp6u1 31 |
|
OneToMany | |||
Cyp6g1 31 |
|
OneToMany | |||
Cyp6t3 31 |
|
OneToMany | |||
Cyp6d5 31 |
|
OneToMany | |||
Cyp308a1 31 |
|
OneToMany | |||
Cyp28d2 31 |
|
OneToMany | |||
Cyp28d1 31 |
|
OneToMany | |||
Cyp317a1 31 |
|
OneToMany | |||
Cyp6d2 31 |
|
OneToMany | |||
Cyp28c1 31 |
|
OneToMany | |||
Cyp309a2 31 |
|
OneToMany | |||
Cyp28a5 31 |
|
OneToMany | |||
Cyp309a1 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | T10B9.7 32 |
|
|
|
cyp-13A2 31 |
|
OneToMany | |||
cyp-13A7 31 |
|
OneToMany | |||
F14F7.2 32 |
|
|
|||
T10B9.3 32 |
|
|
|||
T10B9.8 32 |
|
|
|||
cyp-13A8 31 |
|
OneToMany | |||
cyp-13A4 31 |
|
OneToMany | |||
T10B9.1 32 |
|
|
|||
T10B9.2 32 |
|
|
|||
cyp-13A1 31 |
|
OneToMany | |||
cyp-13A5 31 |
|
OneToMany | |||
cyp-13A6 31 |
|
OneToMany | |||
ZK1320.4 32 |
|
|
|||
cyp-13A11 31 |
|
OneToMany | |||
cyp-13A10 31 |
|
OneToMany | |||
cyp-13A3 31 |
|
OneToMany | |||
cyp-13B2 31 |
|
OneToMany | |||
cyp-13A12 31 |
|
OneToMany | |||
cyp-13B1 31 |
|
OneToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | CYP711A1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0701500 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
713702 | Benign: not provided | 140,007,159(+) | G/A | SYNONYMOUS_VARIANT | |
713791 | Benign: not provided | 139,936,304(+) | C/T | SYNONYMOUS_VARIANT | |
722772 | Likely Benign: not provided | 140,015,807(+) | C/T | SYNONYMOUS_VARIANT | |
746349 | Benign: not provided | 140,015,750(+) | C/T | SYNONYMOUS_VARIANT | |
768205 | Benign: not provided | 140,015,742(+) | C/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv11622n54 | CNV | loss | 21841781 |
dgv6641n100 | CNV | gain | 25217958 |
esv2671572 | CNV | deletion | 23128226 |
esv2676633 | CNV | deletion | 23128226 |
esv2735212 | CNV | deletion | 23290073 |
esv2735234 | CNV | deletion | 23290073 |
esv2735235 | CNV | deletion | 23290073 |
esv2735236 | CNV | deletion | 23290073 |
esv3542517 | CNV | deletion | 23714750 |
esv3615218 | CNV | loss | 21293372 |
esv3615219 | CNV | loss | 21293372 |
esv3615220 | CNV | loss | 21293372 |
esv3891211 | CNV | loss | 25118596 |
nsv1076004 | CNV | deletion | 25765185 |
nsv1125926 | CNV | tandem duplication | 24896259 |
nsv1135988 | CNV | deletion | 24896259 |
nsv1145162 | CNV | deletion | 24896259 |
nsv365428 | CNV | deletion | 16902084 |
nsv464732 | CNV | gain | 19166990 |
nsv464733 | CNV | loss | 19166990 |
nsv608472 | CNV | gain | 21841781 |
nsv608473 | CNV | loss | 21841781 |
nsv608474 | CNV | loss | 21841781 |
nsv608475 | CNV | loss | 21841781 |
nsv831156 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ghosal hematodiaphyseal dysplasia |
|
|
aregenerative anemia |
|
|
bleeding disorder, platelet-type, 12 |
|
|
bleeding disorder, platelet-type, 14 |
|
|
pancytopenia |
|
|