PTGIR prostaglandin I2 receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: PTGIRprovided by HGNC
Official Full Name: prostaglandin I2 receptorprovided by HGNC
Primary source: HGNC:HGNC:9602
See related: Ensembl:ENSG00000160013 MIM:600022; AllianceGenome:HGNC:9602
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: IP; PRIPR
Summary: The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown to be a receptor for prostacyclin. Prostacyclin, the major product of cyclooxygenase in macrovascular endothelium, elicits a potent vasodilation and inhibition of platelet aggregation through binding to this receptor. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 50.8), placenta (RPKM 17.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (46610687..46625089, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (49436301..49450683, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (47123725..47128346, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.
Title: Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.
these studies are not only the first to identify alpha4 helix of Rab11a as a protein binding domain on the GTPase but also reveal novel mechanistic insights into the intracellular trafficking of the human prostacyclin receptor (hIP), and potentially of other members of the GPCR superfamily, involving Rab11-dependent mechanisms.
Title: Identification of α-helix 4 (α4) of Rab11a as a novel Rab11-binding domain (RBD): Interaction of Rab11a with the Prostacyclin Receptor.
role of IP-PPARdelta signal transduction pathway in the production of sAPPalpha in cerebral microvasculature.
Title: Role of prostacyclin signaling in endothelial production of soluble amyloid precursor protein-α in cerebral microvessels.
Data (including data from studies using transgenic mice, an murine experimental model of diabetes, and mouse/human cell lines) suggest prostaglandin I2 receptor (PTGIR) is involved in insulin secretion in pancreatic beta-cells and in permselectivity in glomerular podocytes; the mechanism appears to involve regulation of post-translational phosphorylation of nephrin.
Title: Prostaglandin I2 Receptor Agonism Preserves β-Cell Function and Attenuates Albuminuria Through Nephrin-Dependent Mechanisms.
The human prostacyclin receptor gene is under the transcriptional regulation of dihydrotestosterone, where this regulation is further influenced by serum-cholesterol levels.
Title: Regulated expression of the prostacyclin receptor (IP) gene by androgens within the vasculature: Combined role for androgens and serum cholesterol.
cPGI2 generates via its cognate cell-surface receptor IP-R, converting white adipocytes to brite adipocytes.
Title: IP-receptor and PPARs trigger the conversion of human white to brite adipocyte induced by carbaprostacyclin.
these findings suggest that reduced IPR expression in DM2 platelets may contribute to platelet hyperactivity in humans with type 2 diabetes.
Title: Prostacyclin receptor expression on platelets of humans with type 2 diabetes is inversely correlated with hemoglobin A1c levels.
A total of 38 non-synonymous mutations were identified within the coding region of the hIP receptor, mapping to 36 distinct residues, including several mutations previously reported to affect the signaling of the hIP receptor.
Title: High throughput mutagenesis for identification of residues regulating human prostacyclin (hIP) receptor expression and function.
Prostaglandin I2- Prostaglandin I2 receptor signaling regulates human Th17 and Treg cell differentiation.
Title: Prostaglandin I2-IP signalling regulates human Th17 and Treg cell differentiation.
The present report is the first to show an association between the A984C polymorphism of the IP gene and platelet activation in Japanese subjects.
Title: Effect of single nucleotide polymorphisms of the prostacyclin receptor gene on platelet activation in Japanese healthy subjects and patients with cerebral infarction.

Submit: New GeneRIF Correction See all GeneRIFs (55)

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

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D19S838 (e-PCR)
- UniSTS:105

D19S985 (e-PCR)
- UniSTS:1790

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info
enables prostacyclin receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger	TAS Traceable Author Statement more info	PubMed
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of platelet-derived growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of smooth muscle cell proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: prostacyclin receptor

Names: PGI receptor; PGI2 receptor; prostaglandin I2 (prostacyclin) receptor (IP); prostanoid IP receptor

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.

mRNA and Protein(s)

NM_000960.4 → NP_000951.1 prostacyclin receptor

See identical proteins and their annotated locations for NP_000951.1

Status: REVIEWED

Source sequence(s)

BQ185457, D25418, DA652875

Consensus CDS

CCDS12686.1

UniProtKB/Swiss-Prot

P43119

UniProtKB/TrEMBL

Q2YD89

Related

ENSP00000291294.1, ENST00000291294.7

Conserved Domains (2) summary

cd14964
Location:16 → 40

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:14 → 304

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

46610687..46625089 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005259095.5 → XP_005259152.1 prostacyclin receptor isoform X2

UniProtKB/TrEMBL

A0A0B4J2A7

Conserved Domains (1) summary

cl21561
Location:27 → 221

7tm_4; Olfactory receptor
XM_005259093.4 → XP_005259150.1 prostacyclin receptor isoform X1

Conserved Domains (1) summary

cl21561
Location:27 → 221

7tm_4; Olfactory receptor