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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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