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

Summary

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

Location:: 17p13.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (3673227..3696155, complement)
RS_2023_03	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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC31971 (e-PCR)
- UniSTS:99843

STS-T52483 (e-PCR)
- UniSTS:41547

SHGC-58334 (e-PCR)
- UniSTS:94317

WI-20223 (e-PCR)
- UniSTS:48554

SHGC-24369 (e-PCR)
- UniSTS:81090

Readthrough P2RX5-TAX1BP3

Readthrough gene: P2RX5-TAX1BP3, Included gene: TAX1BP3

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	NAS Non-traceable Author Statement more info	PubMed
enables extracellularly ATP-gated monoatomic cation channel activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables extracellularly ATP-gated monoatomic cation channel activity	NAS Non-traceable Author Statement 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 excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in monoatomic cation transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
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
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)

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/Swiss-Prot

Q93086

Related

ENSP00000448355.1, ENST00000547178.5

Conserved Domains (1) summary

TIGR00863
Location:1 → 350

P2X; cation transporter protein
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/Swiss-Prot

Q93086

Related

ENSP00000342161.3, ENST00000345901.7

Conserved Domains (1) summary

TIGR00863
Location:1 → 327

P2X; cation transporter protein
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

Q93086, Q9NZV0

Related

ENSP00000225328.5, ENST00000225328.10

Conserved Domains (1) summary

TIGR00863
Location:1 → 351

P2X; cation transporter protein
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/Swiss-Prot

Q93086

Related

ENSP00000447545.1, ENST00000551178.5

Conserved Domains (1) summary

TIGR00863
Location:1 → 326

P2X; cation transporter protein

RNA

NR_178078.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

CP068261
NR_178079.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

CP068261

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

3673227..3696155 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.