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P2RX5 purinergic receptor P2X 5 [ Homo sapiens (human) ]

Gene ID: 5026, updated on 13-Apr-2024

Summary

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Official Symbol
P2RX5provided by HGNC
Official Full Name
purinergic receptor P2X 5provided by HGNC
Primary source
HGNC:HGNC:8536
See related
Ensembl:ENSG00000083454 MIM:602836; AllianceGenome:HGNC:8536
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
P2X5; LRH-1; P2X5R
Summary
The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011]
Expression
Biased expression in lymph node (RPKM 41.6), spleen (RPKM 36.1) and 4 other tissues See more
Orthologs
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Genomic context

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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 (3673227..3696155, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (3562283..3584749, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3576521..3599449, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene P2RX5-TAX1BP3 readthrough (NMD candidate) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3570666-3571197 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:3571198-3571728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8017 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3572261-3572791 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3572792-3573322 Neighboring gene ribosomal protein L21 pseudogene 125 Neighboring gene Tax1 binding protein 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3591902-3592810 Neighboring gene ER membrane protein complex subunit 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11513 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3598520-3599036 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8018 Neighboring gene MPRA-validated peak2690 silencer Neighboring gene MPRA-validated peak2691 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:3627127-3627882 Neighboring gene integrin subunit alpha E Neighboring gene Sharpr-MPRA regulatory region 669 Neighboring gene histone H3 associated protein kinase Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:3658435-3659138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3697478-3698200 Neighboring gene nonconserved acetylation island sequence 85 enhancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3701060-3701958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11520 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11521 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3716184-3716689 Neighboring gene nuclear cap binding subunit 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:3735506-3735685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8020

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A truncation variant of the cation channel P2RX5 is upregulated during T cell activation. Abramowski P, et al. PLoS One, 2014. PMID 25181038, Free PMC Article
  2. Genetic and functional analysis of human P2X5 reveals a distinct pattern of exon 10 polymorphism with predominant expression of the nonfunctional receptor isoform. Kotnis S, et al. Mol Pharmacol, 2010 Jun. PMID 20223879
  3. Myeloid leukemic progenitor cells can be specifically targeted by minor histocompatibility antigen LRH-1-reactive cytotoxic T cells. Norde WJ, et al. Blood, 2009 Mar 5. PMID 19074734
  4. Aberrant expression of the hematopoietic-restricted minor histocompatibility antigen LRH-1 on solid tumors results in efficient cytotoxic T cell-mediated lysis. Overes IM, et al. Cancer Immunol Immunother, 2009 Mar. PMID 18719914
  5. Purinoceptor expression on keratinocytes reflects their function on the epidermis during chronic venous insufficiency. Metcalfe MJ, et al. Arch Dermatol Res, 2006 Nov. PMID 16967306

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. sensory proteins P2X3 and TRPV1 are in correlation with urothelial differentiation, while P2X5 and TRPV4 have unique expression patterns
    Title: Correlation between urothelial differentiation and sensory proteins P2X3, P2X5, TRPV1, and TRPV4 in normal urothelium and papillary carcinoma of human bladder.
  2. The amino acid transporter PAT2 and the purinergic receptor P2RX5 are cell surface markers expressed in classical brown and beige adipocytes.
    Title: ASC-1, PAT2, and P2RX5 are cell surface markers for white, beige, and brown adipocytes.
  3. These data indicate a functional role of the human P2RX5 splice variant in T cell activation and immunoregulation.
    Title: A truncation variant of the cation channel P2RX5 is upregulated during T cell activation.
  4. These findings provide a rationale for use of LRH-1 as immunotherapeutic target antigen to treat residual or persisting myeloid malignancies after allogeneic stem cell transplantation
    Title: Myeloid leukemic progenitor cells can be specifically targeted by minor histocompatibility antigen LRH-1-reactive cytotoxic T cells.
  5. Purinergic receptor P2X5 binds to adenosine triphosphate (ATP) to form a molecular complex with ASIC3 (acid-sensing ion channel number 3) to detect muscle ischemia.
    Title: Sensing muscle ischemia: coincident detection of acid and ATP via interplay of two ion channels.
  6. findings indicate that most humans express only a nonfunctional isoform of P2X5, which is in stark contrast to what is seen in other vertebrate species in which P2X5 has been studied, from which only the full-length isoform is known
    Title: Genetic and functional analysis of human P2X5 reveals a distinct pattern of exon 10 polymorphism with predominant expression of the nonfunctional receptor isoform.
  7. LRH-1 is aberrantly expressed on solid tumor cells
    Title: Aberrant expression of the hematopoietic-restricted minor histocompatibility antigen LRH-1 on solid tumors results in efficient cytotoxic T cell-mediated lysis.
  8. Different purinergic receptors have different functional roles in human epidermis with P2Y1 and P2Y2 receptors controlling proliferation, while P2X5 and P2X7 receptors control early differentiation, terminal differentiation and death of keratinocytes.
    Title: Purinergic receptors are part of a functional signaling system for proliferation and differentiation of human epidermal keratinocytes.
  9. a P2X5 frameshift mutation has a role in response to treatment of chronic myeloid leukemia
    Title: A frameshift polymorphism in P2X5 elicits an allogeneic cytotoxic T lymphocyte response associated with remission of chronic myeloid leukemia.
  10. Increased keratinocyte P2X(5) receptor activity may, in part, be accountable for epidermal thinning in chronic venous insufficiency.
    Title: Purinoceptor expression on keratinocytes reflects their function on the epidermis during chronic venous insufficiency.
Submit: New GeneRIF Correction See all GeneRIFs (12)

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)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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

Readthrough P2RX5-TAX1BP3

Readthrough gene: P2RX5-TAX1BP3, Included gene: TAX1BP3

Homology

Clone Names

  • MGC47755

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables ATP-gated ion channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
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 NAS
Non-traceable Author Statement
more info
 PubMed 
enables ligand-gated monoatomic anion channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables monoatomic ion channel activity TAS
Traceable Author Statement
more info
 PubMed 
enables purinergic nucleotide receptor activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in calcium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chloride transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in osteoclast maturation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of calcium ion transport into cytosol NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of calcium-mediated signaling NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in purinergic nucleotide receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in response to ATP IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
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 postsynapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
P2X purinoceptor 5
Names
ATP receptor subunit
ionotropic ATP receptor P2X5
lymphoid-restricted histocompatibility antigen-1
purinergic receptor P2X, ligand gated ion channel, 5

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.

mRNA and Protein(s)

  1. NM_001204519.2 → NP_001191448.1  P2X purinoceptor 5 isoform D

    See identical proteins and their annotated locations for NP_001191448.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (D) that is shorter than isoform A.
    Source sequence(s)
    AK290889, BC028084
    Consensus CDS
    CCDS56015.1
    UniProtKB/TrEMBL
    K7EQ78
    Related
    ENSP00000448355.1, ENST00000547178.5
    Conserved Domains (1) summary
    TIGR00863
    Location:1 → 350
    P2X; cation transporter protein

  2. NM_001204520.2 → NP_001191449.1  P2X purinoceptor 5 isoform E

    See identical proteins and their annotated locations for NP_001191449.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (E) that is shorter than isoform A.
    Source sequence(s)
    AA805176, AK290889, DQ234349
    Consensus CDS
    CCDS56014.1
    UniProtKB/TrEMBL
    K7EQ78
    Related
    ENSP00000342161.3, ENST00000345901.7
    Conserved Domains (1) summary
    TIGR00863
    Location:1 → 327
    P2X; cation transporter protein

  3. NM_001425082.1 → NP_001412011.1  P2X purinoceptor 5 isoform G

    Status: REVIEWED

    Source sequence(s)
    AC116914, AC132942

  4. NM_001425083.1 → NP_001412012.1  P2X purinoceptor 5 isoform G

    Status: REVIEWED

    Source sequence(s)
    AC116914, AC132942

  5. NM_001425084.1 → NP_001412013.1  P2X purinoceptor 5 isoform G

    Status: REVIEWED

    Source sequence(s)
    AC116914, AC132942

  6. NM_001425085.1 → NP_001412014.1  P2X purinoceptor 5 isoform G

    Status: REVIEWED

    Source sequence(s)
    AC116914, AC132942

  7. NM_002561.4 → NP_002552.2  P2X purinoceptor 5 isoform A

    See identical proteins and their annotated locations for NP_002552.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (A).
    Source sequence(s)
    AA805176, AK290889
    Consensus CDS
    CCDS11034.1
    UniProtKB/Swiss-Prot
    G5E981, O43450, O75540, Q308M5, Q59F38, Q8IXW4, Q93086, Q93087, Q9NZV0
    UniProtKB/TrEMBL
    K7EQ78
    Related
    ENSP00000225328.5, ENST00000225328.10
    Conserved Domains (1) summary
    TIGR00863
    Location:1 → 351
    P2X; cation transporter protein

  8. NM_175080.3 → NP_778255.1  P2X purinoceptor 5 isoform B

    See identical proteins and their annotated locations for NP_778255.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (B) that is shorter than isoform A.
    Source sequence(s)
    AA805176, AF070573, AK290889
    Consensus CDS
    CCDS11035.1
    UniProtKB/TrEMBL
    K7EQ78
    Related
    ENSP00000447545.1, ENST00000551178.5
    Conserved Domains (1) summary
    TIGR00863
    Location:1 → 326
    P2X; cation transporter protein

RNA

  1. NR_178078.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    CP068261

  2. NR_178079.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    CP068261

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

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    3673227..3696155 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    3562283..3584749 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_175081.1: Suppressed sequence

    Description
    NM_175081.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q93086.4 GenPept UniProtKB/Swiss-Prot:Q93086

Gene LinkOut

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