PTGIS prostaglandin I2 synthase [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTGISprovided by HGNC
Official Full Name: prostaglandin I2 synthaseprovided by HGNC
Primary source: HGNC:HGNC:9603
See related: Ensembl:ENSG00000124212 MIM:601699
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: CYP8; PGIS; PTGI; CYP8A1
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 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]
Expression: Broad expression in urinary bladder (RPKM 26.9), gall bladder (RPKM 23.0) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	20	NC_000020.11 (49503874..49568137, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (48120411..48184674, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Derivation of an induced pluripotent stem cell line (PUMCHi003-A) from a patient with pulmonary arterial hypertension carrying heterozygous mutation in PTGIS gene.
Title: Derivation of an induced pluripotent stem cell line (PUMCHi003-A) from a patient with pulmonary arterial hypertension carrying heterozygous mutation in PTGIS gene.
Association of Rare PTGIS Variants With Susceptibility and Pulmonary Vascular Response in Patients With Idiopathic Pulmonary Arterial Hypertension.
Title: Association of Rare PTGIS Variants With Susceptibility and Pulmonary Vascular Response in Patients With Idiopathic Pulmonary Arterial Hypertension.
We identified an association between a PGIS variant and SAB risk that is modified by NSAIDs use during pregnancy and directly associated with increased levels of PGE metabolites. This suggests the potential use of genetic information to guide pharmaceutical intervention to prevent adverse pregnancy outcomes.
Title: Nonsteroidal Anti-inflammatory Drug Interaction with Prostacyclin Synthase Protects from Miscarriage.
In examining the tumor suppressor PTGIS as a potential biomarker for treatment with either 5-Aza-dC or TSA, 5-Aza-dC effectively stabilized cell cycling, restricted genetic instability and derepressed PTGIS expression
Title: Evaluation of Epigenetic Drug Targeting of Heterogenous Tumor Cell Fractions Using Potential Biomarkers of Response in Ovarian Cancer.
Based on the predicted crystal structure of CYP8A1( *)5 using the Molecular Operating Environment platform, the distance from CYP8A1 Cys441 to the heme was altered with a significantly changed binding free energy for the mutant protein.
Title: Analysis of genetic polymorphism and biochemical characterization of a functionally decreased variant in prostacyclin synthase gene (CYP8A1) in humans.
results indicate that PGIS expression was associated with radiotherapy efficiency
Title: Prostacyclin-synthase expression in head and neck carcinoma patients and its prognostic value in the response to radiotherapy.
Type-2 diabetes is associated with higher COX-2 expression, but lower eNOS and PGIS expression in subcutaneous arteries.
Title: Reduced expression of prostacyclin synthase and nitric oxide synthase in subcutaneous arteries of type 2 diabetic patients.
In a case-control study unaffected carriers of a BMPR2 mutation, linked to pulmonary artery hypertension (PAH), were most often found to have prostacyclin synthase promoter sequence variants, which were thought to protect against PAH.
Title: Functional prostacyclin synthase promoter polymorphisms. Impact in pulmonary arterial hypertension.
These findings suggest that PGIS is induced by hypoxia and regulates the expression of VEGF in fibroblasts.
Title: VEGF expression is augmented by hypoxia‑induced PGIS in human fibroblasts.
High PTGIS expression is associated with colorectal cancer hepatic metastasis.
Title: Combination of haptoglobin and osteopontin could predict colorectal cancer hepatic metastasis.

Submit: New GeneRIF Correction See all GeneRIFs (52)

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
Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available
Essential hypertension MedGen: C0085580 OMIM: 145500 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14359 (e-PCR)
- UniSTS:12544

RH79833 (e-PCR)
- UniSTS:88069

NoName (e-PCR)
- UniSTS:495120

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

PMC15869P2 (e-PCR)
- UniSTS:271438

L18426 (e-PCR)
- UniSTS:34648

NoName (e-PCR)
- UniSTS:481382

G54035 (e-PCR)
- UniSTS:109417

D10S16 (e-PCR)
- UniSTS:155756

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

RH80030 (e-PCR)
- UniSTS:87680

WI-9354 (e-PCR)
- UniSTS:23681

RH66622 (e-PCR)
- UniSTS:29922

STS-D38145 (e-PCR)
- UniSTS:69875

Homology

Homologs of the PTGIS gene: The PTGIS gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 311 organisms have orthologs with human gene PTGIS
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heme binding	IDA Inferred from Direct Assay more info	PubMed
enables hydroperoxy icosatetraenoate dehydratase activity	IEA Inferred from Electronic Annotation more info
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 prostaglandin-I synthase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables prostaglandin-I synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables prostaglandin-I synthase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in NAD biosynthesis via nicotinamide riboside salvage pathway	TAS Traceable Author Statement more info
involved_in apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to interleukin-1	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to interleukin-6	IEP Inferred from Expression Pattern more info	PubMed
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 negative regulation of NF-kappaB transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of nitric oxide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of execution phase of apoptosis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of peroxisome proliferator activated receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in prostaglandin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in prostaglandin biosynthetic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in caveola	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info
located_in integral component of membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: prostacyclin synthase

Names: cytochrome P450, family 8, subfamily A, polypeptide 1; hydroperoxy icosatetraenoate dehydratase; prostaglandin I2 (prostacyclin) synthase

NP_000952.1

EC 4.2.1.152

EC 5.3.99.4

NCBI Reference Sequences (RefSeq)

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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.