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P2RX1 - purinergic receptor P2X 1 Gene

Also Known as P2X1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5023

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	References	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	References	Source
acts upstream of or within monoatomic ion transport	IDA IDA: Inferred from direct assay	8834001	GOA

Cellular Component GO Annotation	Evidence	References	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

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

P2RX1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	P2RX1	P51575	CYBC1	Homo sapiens	Q9BQA9	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09897	P2RX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS09898	P2rx1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS09899	P2rx1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	P2RX1	NCBI