1. Gene
  2. P2RX1 - purinergic receptor P2X 1 Gene

P2RX1 - purinergic receptor P2X 1 Gene

Homo sapiens

Also known as P2X1

Gene ID: 5023 | Gene type: protein coding

About P2RX1

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:3,896,592-3,916,465 (from NCBI)

This gene has 4 transcripts (splice variants), 199 orthologues and 6 paralogues. Broad expression in bone marrow (RPKM 20.3), urinary bladder (RPKM 20.1) and 15 other tissues.

Summary

The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting Apoptosis. [provided by RefSeq, Jun 2013]

P2RX1 Products(10)

mRNA Protein Name
XM_011523900.4 XP_011522202.1 P2X purinoceptor 1 isoform X7
XM_047436159.1 XP_047292115.1 P2X purinoceptor 1 isoform X5
XM_047436160.1 XP_047292116.1 P2X purinoceptor 1 isoform X7
XM_011523897.3 XP_011522199.1 P2X purinoceptor 1 isoform X2
XM_006721529.3 XP_006721592.1 P2X purinoceptor 1 isoform X6
XM_047436158.1 XP_047292114.1 P2X purinoceptor 1 isoform X1
NM_002558.4 NP_002549.1 P2X purinoceptor 1
XM_011523899.4 XP_011522201.1 P2X purinoceptor 1 isoform X4
XM_011523898.4 XP_011522200.1 P2X purinoceptor 1 isoform X3
XM_047436161.1 XP_047292117.1 P2X purinoceptor 1 isoform X8
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables extracellularly ATP-gated monoatomic cation channel activity IDA
IDA: Inferred from direct assay
8961184 GOA
enables ligand-gated calcium channel activity IDA
IDA: Inferred from direct assay
8961184 GOA
enables monoatomic cation channel activity IDA
IDA: Inferred from direct assay
8834001 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables purinergic nucleotide receptor activity IDA
IDA: Inferred from direct assay
8834001 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within monoatomic ion transport IDA
IDA: Inferred from direct assay
8834001 GOA
Cellular Component GO Annotation Evidence Reference Source
located in membrane raft IDA
IDA: Inferred from direct assay
20699225 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
10816552 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

P2RX1 Protein Structure

P2X_receptor

P2X_receptor: ATP P2X receptor (14 - 378)

  • 0
  • 100
  • 200
  • 300
  • 399 a.a.
Protein Preferred Names Protein Names

P2X purinoceptor 1

ATP receptor

P2X receptor, subunit 1

P2X1 receptor

purinergic receptor P2X, ligand gated ion channel, 1

purinergic receptor P2X1

Related Diseases

Diseases Alias
Interstitial Cystitis

Bladder Pain Syndrome

Painful Bladder Syndrome

Ulcerative Cystitis

Ic/Bps

Ic/Pbs

Interstitial Cystitis/Bladder Pain Syndrome

Interstitial Cystitis/Painful Bladder Syndrome

Cystitis, Interstitial

Chronic Interstitial Cystitis

Pelvic Congestion Syndrome

Trigonitis

Deafness, Autosomal Dominant 41

DFNA41

Autosomal Dominant Nonsyndromic Deafness 41

Autosomal Dominant Deafness 41

Deafness, Autosomal Dominant, 41

Deafness, Autosomal Dominant, Type 41

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Radiation Cystitis

Irradiation Cystitis

Neurogenic Bladder

Neurogenic Dysfunction Of The Urinary Bladder

Neurogenic Urinary Bladder Disorder

Neuropathic Bladder

Bladder Neurogenic

Urinary Bladder, Neurogenic

Neurogenic Urinary Bladder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus P2RX1 VGNC VGNC:68669
Bos taurus P2RX1 VGNC VGNC:32517
Rattus norvegicus P2RX1 RGD RGD:3240
Canis familiaris P2RX1 VGNC VGNC:44207
Macaca mulatta P2RX1 VGNC VGNC:75732
Mus musculus P2RX1 MGD MGI:1098235