P2RY1
Purinergic Receptor P2Y1
Gene Information Card
| Symbol | P2RY1 |
|---|---|
| Full Name | Purinergic Receptor P2Y1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q25.2 |
| NCBI Gene ID | 5028 ncbi.nlm.nih.gov/gene/5028 |
| Ensembl ID | ENSG00000169896 |
| UniProt ID | P47900 |
| OMIM ID | 601167 |
| HGNC ID | 8539 |
| Aliases | P2Y1, P2Y1R, P2RY1 |
Description
The P2RY1 gene encodes the P2Y1 receptor, a G protein-coupled receptor (GPCR) activated by extracellular adenosine diphosphate (ADP). It plays a critical role in platelet aggregation, vascular tone regulation, and inflammatory responses. Mutations in P2RY1 are associated with bleeding disorders and altered thrombotic risk.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bleeding disorder, platelet-type, 8 (BDPLT8) | Loss-of-function mutations impair ADP-induced platelet aggregation | OMIM #601167; ClinVar |
| Thrombosis susceptibility | Gain-of-function variants enhance platelet reactivity | ClinVar; literature |
| Coronary artery disease | Polymorphisms linked to altered platelet activation | NCBI Gene; GWAS |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Whole blood | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 6.1 | Low |
| Brain | 4.7 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Megakaryocytes | 45.2 | High expression |
| Platelets | 30.1 | High expression |
| HEK293 | 2.3 | Low expression |
| HUVEC | 5.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.893C>T (p.Thr298Met) | Missense | 0.02% (gnomAD) | Reduced ADP binding; loss of function |
| c.136G>A (p.Gly46Arg) | Missense | 0.01% (gnomAD) | Impaired receptor activation; loss of function |
| c.100C>T (p.Arg34Cys) | Missense | 0.005% (gnomAD) | Decreased surface expression; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Thr298Met, p.Gly46Arg) reduce ADP binding or receptor activation, leading to impaired platelet aggregation and bleeding tendency.
Gain of Function (GOF)
Rare variants (e.g., p.Val241Ile) reported to increase receptor sensitivity to ADP, associated with enhanced platelet aggregation and thrombotic risk.
Dominant Negative (DN)
No dominant-negative mutations currently documented in P2RY1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ADP signaling through P2Y purinoceptor 1 (Reactome: R-HSA-418594)
• Platelet activation
• signaling and aggregation (Reactome: R-HSA-76002)
• G alpha (q) signalling events (Reactome: R-HSA-416476)
Protein Summary
The P2Y1 receptor is a 373-amino acid GPCR with seven transmembrane domains. It is predominantly expressed on platelets and megakaryocytes, where it mediates ADP-induced platelet shape change and aggregation via Gq/11 activation, leading to phospholipase C beta activation and intracellular calcium mobilization. The receptor also contributes to vascular endothelial function and inflammation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| P2RY1 Knockout HEK293 Cell Line | EDJ-KQ1287 | Human | 5028 | Details Get a Quote |
| P2RY14 Knockout HEK293 Cell Line | EDJ-KQ6825 | Human | 9934 | Details Get a Quote |
| P2RY10 Knockout HEK293 Cell Line | EDJ-KQ8776 | Human | 27334 | Details Get a Quote |
| P2RY1 Knockout HCT 116 Cell Line | EDJ-KQ20687 | Human | 5028 | Details Get a Quote |
| P2RY11 Knockout HEK293 Cell Line | EDJ-KQ50498 | Human | 5032 | Details Get a Quote |
| P2RY13 Knockout HEK293 Cell Line | EDJ-KQ51354 | Human | 53829 | Details Get a Quote |
| P2RY12 Knockout HEK293 Cell Line | EDJ-KQ51631 | Human | 64805 | Details Get a Quote |
| PPAN-P2RY11 Knockout HEK293 Cell Line | EDJ-KQ52396 | Human | 692312 | Details Get a Quote |
| P2RY1 Knockout HeLa Cell Line | EDJ-KQ54069 | Human | 5028 | Details Get a Quote |
| P2RY11 Knockout HeLa Cell Line | EDJ-KQ54071 | Human | 5032 | Details Get a Quote |
| P2RY14 Knockout HeLa Cell Line | EDJ-KQ55279 | Human | 9934 | Details Get a Quote |
| P2RY10 Knockout HeLa Cell Line | EDJ-KQ56061 | Human | 27334 | Details Get a Quote |
| P2RY13 Knockout HeLa Cell Line | EDJ-KQ56381 | Human | 53829 | Details Get a Quote |
| P2RY12 Knockout HeLa Cell Line | EDJ-KQ57083 | Human | 64805 | Details Get a Quote |
| PPAN-P2RY11 Knockout HeLa Cell Line | EDJ-KQ60674 | Human | 692312 | Details Get a Quote |
Displaying Records 1 To 15 Of 28 Records
