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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 prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]
PTGIS (Prostaglandin I2 Synthase) is a Protein Coding gene. Diseases associated with PTGIS include Hypertension, Essential and Pulmonary Hypertension. Among its related pathways are Eicosanoid Synthesis and Synthesis of bile acids and bile salts. 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. An important paralog of this gene is CYP8B1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004497 | monooxygenase activity | IEA | -- |
GO:0005506 | iron ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 20122998 |
GO:0008116 | prostaglandin-I synthase activity | IBA,IDA | 15115769 |
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:0005615 | extracellular space | ISS | -- |
GO:0005634 | nucleus | IEA,IDA | 21035466 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005783 | endoplasmic reticulum | IBA,IDA | 21035466 |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type |
.01
|
|
2 | Synthesis of bile acids and bile salts | ||
3 | Metabolism |
.40
|
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4 | Arachidonic acid metabolism | ||
5 | Metabolism of water-soluble vitamins and cofactors |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001516 | prostaglandin biosynthetic process | IBA,IDA | 15115769 |
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 |
---|---|---|---|---|---|---|
Phenylbutazone | Approved, Vet_approved | Pharma | Target, inhibitor | 0 | ||
Epoprostenol | Approved | Pharma | Target, inducer | 89 | ||
(5Z)-7-{(1R,4S,5R,6R)-6-[(1E)-1-Octen-1-yl]-2,3-diazabicyclo[2.2.1]hept-2-en-5-yl}-5-heptenoic acid | Experimental | Pharma | Target | 0 | ||
heme | Pharma | Agonist | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Prostaglandin H2 |
|
42935-17-1 |
|
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PTGIS 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PTGIS 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PTGIS 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ptgis 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ptgis 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | PTGIS 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PTGIS 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PTGIS 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ptgis 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ptgis 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4049 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
781903 | Benign: not provided | 49,524,207(-) | G/A | MISSENSE_VARIANT | |
786681 | Likely Benign: not provided | 49,508,045(-) | C/T | MISSENSE_VARIANT | |
rs13306026 | Pathogenic: Essential hypertension | 49,511,026(-) | A/G | SPLICE_DONOR_VARIANT | |
rs61734270 | Likely Pathogenic: Childhood-Onset Schizophrenia | 49,524,089(-) | C/T | MISSENSE_VARIANT | |
rs1173082660 | - | p.Pro38Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4323n100 | CNV | loss | 25217958 |
esv2762080 | CNV | loss | 21179565 |
esv3568005 | CNV | loss | 25503493 |
esv3646015 | CNV | loss | 21293372 |
nsv1065852 | CNV | loss | 25217958 |
nsv586173 | CNV | loss | 21841781 |
nsv586174 | CNV | loss | 21841781 |
nsv586175 | CNV | loss | 21841781 |
nsv586176 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypertension, essential |
|
|
pulmonary hypertension |
|
|
female stress incontinence |
|
|
myocardial infarction |
|
|
stroke, ischemic |
|