P2RX1 purinergic receptor P2X 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: P2RX1provided by HGNC
Official Full Name: purinergic receptor P2X 1provided by HGNC
Primary source: HGNC:HGNC:8533
See related: Ensembl:ENSG00000108405 MIM:600845; AllianceGenome:HGNC:8533
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: P2X1
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]
Expression: Broad expression in bone marrow (RPKM 20.3), urinary bladder (RPKM 20.1) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (3896592..3916465, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (3785217..3805777, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (3799886..3819759, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

P2rx1 deficiency alleviates acetaminophen-induced acute liver failure by regulating the STING signaling pathway.
Title: P2rx1 deficiency alleviates acetaminophen-induced acute liver failure by regulating the STING signaling pathway.
P2X1 enhances leukemogenesis through PBX3-BCAT1 pathways.
Title: P2X1 enhances leukemogenesis through PBX3-BCAT1 pathways.
Functional expression of P2X1, P2X4 and P2X7 purinergic receptors in human monocyte-derived macrophages.
Title: Functional expression of P2X1, P2X4 and P2X7 purinergic receptors in human monocyte-derived macrophages.
Shiga toxin signals via ATP and its effect is blocked by purinergic receptor antagonism.
Title: Shiga toxin signals via ATP and its effect is blocked by purinergic receptor antagonism.
TgROP18 targets the purinergic receptor P2X1 of the SF268 human neural cells and inhibits ATP-induced apoptosis through the mitochondrial pathway.
Title: Toxoplasma gondii ROP18 inhibits human glioblastoma cell apoptosis through a mitochondrial pathway by targeting host cell P2X1.
P2X1 receptors enhance platelet FcgammaRIIa receptor-evoked aggregation through an increase in [Ca(2+)]i downstream of the initial tyrosine phosphorylation events and early dense granule release
Title: P2X1 Receptors Amplify FcγRIIa-Induced Ca2+ Increases and Functional Responses in Human Platelets.
The importance of this movement was confirmed by demonstrating that substitution introducing positive charge present in the CRH of the hP2X1R causes PPADS sensitivity at the normally insensitive rat P2X4R. This study provides a template for developing P2XR subtype selectivity based on the differences among the mammalian subunits around the orthosteric P2XR-binding site and the CRH.
Title: Mapping the binding site of the P2X receptor antagonist PPADS reveals the importance of orthosteric site charge and the cysteine-rich head region.
Healthy human eosinophils express functional P2X1 receptors whose activation leads to eosinophil alphaMbeta2 integrin-dependent adhesion. P2X1 responses are constitutively reduced in asthmatic compared with healthy eosinophils, probably as the result of an increase in extracellular nucleotide concentration.
Title: Impaired P2X1 Receptor-Mediated Adhesion in Eosinophils from Asthmatic Patients.
the expression of P2X1 transcript and its splicing variant P2X1del in most human monocytes
Title: Two P2X1 receptor transcripts able to form functional channels are present in most human monocytes.
These data suggest that vascular smooth muscle cells from human gastro-omental arteries express P2X1 and P2X4 receptor subunits
Title: Vascular smooth muscle cells from small human omental arteries express P2X1 and P2X4 receptor subunits.

Submit: New GeneRIF Correction See all GeneRIFs (60)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Infection of CD4+ T cells with HIV-1 in the presence of inhibitors of P2X receptors greatly inhibits HIV-1 infection via both cell-free and cell-to-cell contact in a dose-dependent manner, suggesting P2X receptors interact with gp120/gp41 in viral entry	PubMed
	env	Interaction of the HIV-1 gp120 with macrophages triggers an increase in ATP release that stimulates purinergic receptor P2X(1), P2X(7), and P2Y(1) proteins and facilitates HIV entry and subsequent stages of viral replication	PubMed
Envelope transmembrane glycoprotein gp41	env	Infection of CD4+ T cells with HIV-1 in the presence of inhibitors of P2X receptors greatly inhibits HIV-1 infection via both cell-free and cell-to-cell contact in a dose-dependent manner, suggesting P2X receptors interact with gp120/gp41 in viral entry	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_26793-26794:1034271709:3 (e-PCR)
- UniSTS:269079

ksks291 (e-PCR)
- UniSTS:514332

D17S1828 (e-PCR), detects polymorphism
- UniSTS:71344

STS-X83688 (e-PCR)
- UniSTS:43955

STS-X83688 (e-PCR)
- UniSTS:14550

WI-17165 (e-PCR)
- UniSTS:8682

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables extracellularly ATP-gated monoatomic cation channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables extracellularly ATP-gated monoatomic cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables ligand-gated calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables monoatomic cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables purinergic nucleotide receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables suramin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in ceramide biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in insemination	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in neuronal action potential	IEA Inferred from Electronic Annotation more info
involved_in platelet activation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of calcium ion import across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in purinergic nucleotide receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in regulation of presynaptic cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic vesicle exocytosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of vascular associated smooth muscle contraction	IEA Inferred from Electronic Annotation more info
involved_in response to ATP	IEA Inferred from Electronic Annotation more info
involved_in serotonin secretion by platelet	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in synaptic transmission, glutamatergic	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in presynaptic active zone membrane	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info
located_in secretory granule membrane	TAS Traceable Author Statement more info
located_in specific granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: P2X purinoceptor 1

Names: ATP receptor; P2X receptor, subunit 1; P2X1 receptor; purinergic receptor P2X, ligand gated ion channel, 1; purinergic receptor P2X1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012109.1 RefSeqGene

Range

5202..25075

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002558.4 → NP_002549.1 P2X purinoceptor 1

See identical proteins and their annotated locations for NP_002549.1

Status: REVIEWED

Source sequence(s)

AC005940, BC044657, BX644575

Consensus CDS

CCDS11040.1

UniProtKB/Swiss-Prot

P51575, Q9UK84

UniProtKB/TrEMBL

B2R876

Related

ENSP00000225538.3, ENST00000225538.4

Conserved Domains (1) summary

TIGR00863
Location:1 → 368

P2X; cation transporter protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

3896592..3916465 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006721529.3 → XP_006721592.1 P2X purinoceptor 1 isoform X6

UniProtKB/TrEMBL

B2R876

Conserved Domains (1) summary

cl02993
Location:1 → 351

P2X_receptor; ATP P2X receptor
XM_011523897.3 → XP_011522199.1 P2X purinoceptor 1 isoform X2

UniProtKB/TrEMBL

B2R876

Conserved Domains (1) summary

TIGR00863
Location:1 → 388

P2X; cation transporter protein
XM_047436159.1 → XP_047292115.1 P2X purinoceptor 1 isoform X5
XM_011523898.4 → XP_011522200.1 P2X purinoceptor 1 isoform X3

UniProtKB/TrEMBL

B2R876

Conserved Domains (1) summary

pfam00864
Location:59 → 389

P2X_receptor; ATP P2X receptor
XM_011523899.4 → XP_011522201.1 P2X purinoceptor 1 isoform X4

UniProtKB/TrEMBL

B2R876

Conserved Domains (1) summary

pfam00864
Location:59 → 386

P2X_receptor; ATP P2X receptor
XM_047436158.1 → XP_047292114.1 P2X purinoceptor 1 isoform X1
XM_047436161.1 → XP_047292117.1 P2X purinoceptor 1 isoform X8
XM_011523900.4 → XP_011522202.1 P2X purinoceptor 1 isoform X7

Conserved Domains (1) summary

cl02993
Location:59 → 187

P2X_receptor; ATP P2X receptor
XM_047436160.1 → XP_047292116.1 P2X purinoceptor 1 isoform X7