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

Gene ID: 5023, updated on 10-Oct-2024

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
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Genomic context

See P2RX1 in Genome Data Viewer
Location:
17p13.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (3896592..3916465, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (3785217..3805777, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3799886..3819759, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3771089-3771590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3771591-3772090 Neighboring gene calcium/calmodulin dependent protein kinase kinase 1 Neighboring gene Sharpr-MPRA regulatory region 11291 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3791367-3791886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3791887-3792408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8023 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3807108-3807786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11528 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:3831158-3832357 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3833185-3834129 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3844399-3844898 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3856267-3857115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3860613-3861517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8027 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11529 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3879079-3879915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3879916-3880751 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3885316-3886231 Neighboring gene long intergenic non-protein coding RNA 1975

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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

  1. NG_012109.1 RefSeqGene

    Range
    5202..25075
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002558.4NP_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:1368
    P2X; cation transporter protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    3896592..3916465 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    B2R876
    Conserved Domains (1) summary
    cl02993
    Location:1351
    P2X_receptor; ATP P2X receptor
  2. XM_011523897.3XP_011522199.1  P2X purinoceptor 1 isoform X2

    UniProtKB/TrEMBL
    B2R876
    Conserved Domains (1) summary
    TIGR00863
    Location:1388
    P2X; cation transporter protein
  3. XM_047436159.1XP_047292115.1  P2X purinoceptor 1 isoform X5

  4. XM_011523898.4XP_011522200.1  P2X purinoceptor 1 isoform X3

    UniProtKB/TrEMBL
    B2R876
    Conserved Domains (1) summary
    pfam00864
    Location:59389
    P2X_receptor; ATP P2X receptor
  5. XM_011523899.4XP_011522201.1  P2X purinoceptor 1 isoform X4

    UniProtKB/TrEMBL
    B2R876
    Conserved Domains (1) summary
    pfam00864
    Location:59386
    P2X_receptor; ATP P2X receptor
  6. XM_047436158.1XP_047292114.1  P2X purinoceptor 1 isoform X1

  7. XM_047436161.1XP_047292117.1  P2X purinoceptor 1 isoform X8

  8. XM_011523900.4XP_011522202.1  P2X purinoceptor 1 isoform X7

    Conserved Domains (1) summary
    cl02993
    Location:59187
    P2X_receptor; ATP P2X receptor
  9. XM_047436160.1XP_047292116.1  P2X purinoceptor 1 isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    3785217..3805777 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316294.1XP_054172269.1  P2X purinoceptor 1 isoform X5

  2. XM_054316291.1XP_054172266.1  P2X purinoceptor 1 isoform X3

  3. XM_054316292.1XP_054172267.1  P2X purinoceptor 1 isoform X4

  4. XM_054316289.1XP_054172264.1  P2X purinoceptor 1 isoform X1

  5. XM_054316293.1XP_054172268.1  P2X purinoceptor 1 isoform X6

  6. XM_054316290.1XP_054172265.1  P2X purinoceptor 1 isoform X2

  7. XM_054316297.1XP_054172272.1  P2X purinoceptor 1 isoform X8

  8. XM_054316296.1XP_054172271.1  P2X purinoceptor 1 isoform X7

  9. XM_054316295.1XP_054172270.1  P2X purinoceptor 1 isoform X7