P2RX1
Purinergic Receptor P2X 1
Gene Information Card
| Symbol | P2RX1 |
|---|---|
| Full Name | Purinergic Receptor P2X 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.3 |
| NCBI Gene ID | 5023 ncbi.nlm.nih.gov/gene/5023 |
| Ensembl ID | ENSG00000108405 |
| UniProt ID | P51575 |
| OMIM ID | 600845 |
| HGNC ID | 8534 |
| Aliases | P2X1, ATP receptor, P2X purinoceptor 1 |
Description
The P2RX1 gene encodes the P2X1 receptor, an ATP-gated cation channel that mediates fast excitatory neurotransmission. It is highly expressed in smooth muscle, platelets, and immune cells, playing a key role in vasoconstriction, platelet aggregation, and inflammatory responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bladder Cancer | Altered P2X1 expression may affect ATP-mediated signaling in urothelial cells, contributing to tumor progression. | ClinVar, COSMIC |
| Chronic Pain Syndromes | P2X1 receptor dysfunction alters nociceptive signaling in sensory neurons. | NCBI Gene, OMIM |
| Hypertension | P2X1-mediated vasoconstriction contributes to elevated blood pressure. | OMIM, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth Muscle | 12.5 | High |
| Platelets | 8.3 | Medium |
| Brain | 2.1 | Low |
| Lung | 4.7 | Medium |
| Kidney | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.5 | Low expression |
| A549 | 1.2 | Low expression |
| HUVEC | 6.8 | Medium expression |
| K562 | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Reduced channel activity |
| c.151G>A (p.Gly51Arg) | Missense | <0.01% | Loss of function |
| c.200_201del (p.Leu67fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that impair ATP binding or channel pore integrity, reducing ion conductance.
Gain of Function (GOF)
Not reported in P2RX1.
Dominant Negative (DN)
Not reported in P2RX1.
View complete mutation data：
Gene Ontology (GO)
| • ATP-gated cation channel activity (GO:0004931) | • extracellular ATP-gated monoatomic ion channel activity (GO:0004931) |
| • plasma membrane (GO:0005886) | • signal transduction (GO:0007165) |
| • cation transport (GO:0006812) |
Pathways
• Purinergic signaling (Reactome: R-HSA-418594)
• ATP-gated P2X receptor signaling (KEGG: hsa04080)
Protein Summary
The P2X1 receptor is a trimeric ATP-gated cation channel permeable to Na+, K+, and Ca2+. It is rapidly desensitizing and plays a critical role in smooth muscle contraction, platelet activation, and immune modulation. The protein is encoded by the P2RX1 gene located on chromosome 17p13.3.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| P2RX1 Knockout HEK293 Cell Line | EDJ-KQ1570 | Human | 5023 | Details Get a Quote |
| P2RX1 Knockout HeLa Cell Line | EDJ-KQ21255 | Human | 5023 | Details Get a Quote |
| P2RX1 Knockout A-549 Cell Line | EDJ-KQ62554 | Human | 5023 | Details Get a Quote |
| P2RX1 Knockout HCT 116 Cell Line | EDJ-KQ71025 | Human | 5023 | Details Get a Quote |
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