P2RX1

Chr 17p13.2

purinergic receptor P2X 1

Aliases:: P2X1
MANE:: ENST00000225538.4

OMIM: 600845 ↗NCBI: 5023 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

P2RX1 · P51575

v62025-08-01

Predicted Aligned Error matrix for P2RX1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

87.8/ 100

Confident

399 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)29%
Low(50–70)8%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Bleeding and platelet disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

placental abruption
0.26
platelet-type bleeding disorder 8
0.11
breast cancer
0.08
acute lymphoblastic leukemia
0.08
colitis
0.08
acute myeloid leukemia
0.08
spermatogenic failure
0.07
non-syndromic male infertility due to sperm motility disorder
0.07
partial chromosome Y deletion
0.07
male infertility with azoospermia or oligozoospermia due to single gene mutation
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

P2X purinoceptor 1

ATP-gated nonselective transmembrane cation channel permeable to potassium, sodium and with relatively high calcium permeability (PubMed:10440098, PubMed:15056721, PubMed:20699225, PubMed:8834001, PubMed:8961184). Furthermore, CTP functions as a weak affinity agonist for P2RX1 (PubMed:14699168). Plays a role a role in urogenital, immune and cardiovascular function (By similarity). Specifically, plays an important role in neurogenic contraction of smooth muscle of the vas deferens, and therefore is essential for normal male reproductive function (By similarity). In addition, contributes to smooth muscle contractions of the urinary bladder (By similarity). On platelets, contributes to platelet activation and aggregation and thereby, also to thrombosis (By similarity). On neutrophils, it is involved in chemotaxis and in mitigating the activation of circulating cells (PubMed:19635923)