P2RY1 purinergic receptor P2Y1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: P2RY1provided by HGNC
Official Full Name: purinergic receptor P2Y1provided by HGNC
Primary source: HGNC:HGNC:8539
See related: Ensembl:ENSG00000169860 MIM:601167; AllianceGenome:HGNC:8539
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: P2Y1; SARCC
Summary: The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor functions as a receptor for extracellular ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. [provided by RefSeq, Jul 2008]
Orthologs: mouse all
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Genomic context

Location:: 3q25.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (152835131..152841439)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (155605520..155611828)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (152552920..152559228)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exploring the role of purinergic receptor P2RY1 in type 2 diabetes risk and pathophysiology: Insights from human functional genomics.
Title: Exploring the role of purinergic receptor P2RY1 in type 2 diabetes risk and pathophysiology: Insights from human functional genomics.
Exploring bias in platelet P2Y1 signalling: Host defence versus haemostasis.
Title: Exploring bias in platelet P2Y(1) signalling: Host defence versus haemostasis.
Association between P2Y1 and P2Y12 polymorphisms and acute myocardial infarction and ADP-induced platelet aggregation.
Title: Association between P2Y1 and P2Y12 polymorphisms and acute myocardial infarction and ADP-induced platelet aggregation.
Nucleotides-Induced Changes in the Mechanical Properties of Living Endothelial Cells and Astrocytes, Analyzed by Atomic Force Microscopy.
Title: Nucleotides-Induced Changes in the Mechanical Properties of Living Endothelial Cells and Astrocytes, Analyzed by Atomic Force Microscopy.
Contribution of P2X4 Receptors to CNS Function and Pathophysiology.
Title: Contribution of P2X4 Receptors to CNS Function and Pathophysiology.
Extracellular ATP, P2Rs, ecto-nucleotidases, adenosine, and P1Rs are basic elements of the purinergic signaling network and fundamental pillars of inflammation.
Title: Purinergic signaling, DAMPs, and inflammation.
We conclude that P2Y1 and P2X receptors have non-redundant, synergistic functions in the regulation of T cell activation
Title: Autocrine stimulation of P2Y1 receptors is part of the purinergic signaling mechanism that regulates T cell activation.
high-risk gene-gene interactions among TXA2R rs1131882, P2Y1 rs1371097 and GPIIIa rs2317676 were associated with higher platelet activation, and independently associated with higher risk of carotid stenosis in ischemic stroke patients.
Title: The TXA2R rs1131882, P2Y1 rs1371097 and GPIIIa rs2317676 three-loci interactions may increase the risk of carotid stenosis in patients with ischemic stroke.
Genomic association study identified deleterious rare variants in P2RY1 in patients with ischemic stroke.
Title: Population-Specific Associations of Deleterious Rare Variants in Coding Region of P2RY1-P2RY12 Purinergic Receptor Genes in Large-Vessel Ischemic Stroke Patients.
Pin1 induces the ADP-induced migration of human dental pulp cells through P2Y1 stabilization.
Title: Pin1 induces the ADP-induced migration of human dental pulp cells through P2Y1 stabilization.

Submit: New GeneRIF Correction See all GeneRIFs (89)

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
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Interaction of the HIV-1 gp120 with macrophages triggers an increase in ATP release that stimulates purinergic receptor P2X(1), P2X(7), and P2Y(1) proteins and facilitates HIV entry and subsequent stages of viral replication	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC35403 (e-PCR)
- UniSTS:14851

SHGC-77461 (e-PCR)
- UniSTS:14617

PMC34459P1 (e-PCR)
- UniSTS:273207

PMC34459P2 (e-PCR)
- UniSTS:273208

PMC156657P1 (e-PCR)
- UniSTS:271419

NoName (e-PCR)
- UniSTS:481903

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables A1 adenosine receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables ADP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATP binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables G protein-coupled ADP receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled ADP receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables G protein-coupled ATP receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables G protein-coupled ATP receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables G protein-coupled purinergic nucleotide receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables scaffold protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled adenosine receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in G protein-coupled purinergic nucleotide receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in blood vessel diameter maintenance	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to ATP	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to purine-containing compound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eating behavior	IEA Inferred from Electronic Annotation more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in glial cell migration	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of norepinephrine secretion	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet activation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cytosolic calcium ion concentration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of hormone secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of inositol trisphosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of penile erection	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell shape	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of presynaptic cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic vesicle exocytosis	IEA Inferred from Electronic Annotation more info
involved_in relaxation of muscle	IEA Inferred from Electronic Annotation more info
involved_in response to growth factor	IEA Inferred from Electronic Annotation more info
involved_in response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in signal transduction involved in regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in cell surface	HDA more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	ISS Inferred from Sequence or Structural Similarity more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
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	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in presynaptic active zone membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: P2Y purinoceptor 1

Names: ADP receptor; ATP receptor; P2 purinoceptor subtype Y1; platelet ADP receptor; purinergic receptor P2Y, G-protein coupled, 1; suppressing androgen receptor in renal cell carcinoma

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.