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Aliases for P2RX1 Gene

Aliases for P2RX1 Gene

  • Purinergic Receptor P2X 1 2 3
  • Purinergic Receptor P2X, Ligand-Gated Ion Channel, 1 2 3
  • Purinergic Receptor P2X, Ligand Gated Ion Channel, 1 3 5
  • ATP Receptor 3 4
  • P2X1 3 4
  • Purinergic Receptor P2X1 3
  • P2X Receptor, Subunit 1 3
  • Purinergic Receptor 4
  • P2X1 Receptor 3

External Ids for P2RX1 Gene

Previous GeneCards Identifiers for P2RX1 Gene

  • GC17M004112
  • GC17M003750
  • GC17M004006
  • GC17M003746
  • GC17M003799

Summaries for P2RX1 Gene

Entrez Gene Summary for P2RX1 Gene

  • 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]

GeneCards Summary for P2RX1 Gene

P2RX1 (Purinergic Receptor P2X 1) is a Protein Coding gene. Diseases associated with P2RX1 include Bleeding Disorder, Platelet-Type, 8 and Neurogenic Bladder. Among its related pathways are Platelet activation and CREB Pathway. GO annotations related to this gene include ion channel activity and calcium channel activity. An important paralog of this gene is P2RX5-TAX1BP3.

UniProtKB/Swiss-Prot for P2RX1 Gene

  • Ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Seems to be linked to apoptosis, by increasing the intracellular concentration of calcium in the presence of ATP, leading to programmed cell death (By similarity).

Tocris Summary for P2RX1 Gene

  • P2X receptors are members of the ligand-gated ion channel family that open in response to extracellular ATP. Each receptor is made up of a trimer of subunits (P2X1-7) all of which share the common structure of two transmembrane domains.

Gene Wiki entry for P2RX1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for P2RX1 Gene

Genomics for P2RX1 Gene

Regulatory Elements for P2RX1 Gene

Enhancers for P2RX1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around P2RX1 on UCSC Golden Path with GeneCards custom track

Promoters for P2RX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around P2RX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for P2RX1 Gene

Chromosome:
17
Start:
3,896,591 bp from pter
End:
3,916,666 bp from pter
Size:
20,076 bases
Orientation:
Minus strand

Genomic View for P2RX1 Gene

Genes around P2RX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
P2RX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for P2RX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P2RX1 Gene

Proteins for P2RX1 Gene

  • Protein details for P2RX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51575-P2RX1_HUMAN
    Recommended name:
    P2X purinoceptor 1
    Protein Accession:
    P51575
    Secondary Accessions:
    • Q9UK84

    Protein attributes for P2RX1 Gene

    Size:
    399 amino acids
    Molecular mass:
    44980 Da
    Quaternary structure:
    • Homo- or heteropolymers.

neXtProt entry for P2RX1 Gene

Proteomics data for P2RX1 Gene at MOPED

Post-translational modifications for P2RX1 Gene

  • Glycosylation at Asn 153, Asn 184, Asn 242, and Asn 300
  • Modification sites at PhosphoSitePlus

Other Protein References for P2RX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for P2RX1 Gene

Domains & Families for P2RX1 Gene

Gene Families for P2RX1 Gene

Protein Domains for P2RX1 Gene

Suggested Antigen Peptide Sequences for P2RX1 Gene

Graphical View of Domain Structure for InterPro Entry

P51575

UniProtKB/Swiss-Prot:

P2RX1_HUMAN :
  • Belongs to the P2X receptor family.
Family:
  • Belongs to the P2X receptor family.
genes like me logo Genes that share domains with P2RX1: view

Function for P2RX1 Gene

Molecular function for P2RX1 Gene

GENATLAS Biochemistry:
purinoceptor,P2X1,ionotropic class,highly expressed in the platelets and a variety of tissues such as bladder,peripheral leukocytes,pancreas,spleen etc...
UniProtKB/Swiss-Prot Function:
Ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Seems to be linked to apoptosis, by increasing the intracellular concentration of calcium in the presence of ATP, leading to programmed cell death (By similarity).

Gene Ontology (GO) - Molecular Function for P2RX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001614 purinergic nucleotide receptor activity IDA 8834001
GO:0005515 protein binding IEA --
GO:0008144 drug binding IEA --
genes like me logo Genes that share ontologies with P2RX1: view
genes like me logo Genes that share phenotypes with P2RX1: view

Human Phenotype Ontology for P2RX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for P2RX1 Gene

MGI Knock Outs for P2RX1:

Animal Model Products

  • Taconic Biosciences Mouse Models for P2RX1

CRISPR Products

miRNA for P2RX1 Gene

miRTarBase miRNAs that target P2RX1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for P2RX1 Gene

Localization for P2RX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for P2RX1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for P2RX1 Gene COMPARTMENTS Subcellular localization image for P2RX1 gene
Compartment Confidence
plasma membrane 5
nucleus 3
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for P2RX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005639 integral component of nuclear inner membrane IBA --
GO:0005886 plasma membrane IEA,TAS --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with P2RX1: view

Pathways & Interactions for P2RX1 Gene

genes like me logo Genes that share pathways with P2RX1: view

Pathways by source for P2RX1 Gene

Interacting Proteins for P2RX1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000225538%0d%0a9606.ENSP00000343339%0d%0a9606.ENSP00000442349%0d%0a
Selected Interacting proteins: ENSP00000225538 P51575-P2RX1_HUMAN for P2RX1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for P2RX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003056 regulation of vascular smooth muscle contraction IEA --
GO:0006810 transport TAS 9565569
GO:0006811 ion transport IEA,IDA 8834001
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IEA --
GO:0007320 insemination IEA --
genes like me logo Genes that share ontologies with P2RX1: view

No data available for SIGNOR curated interactions for P2RX1 Gene

Drugs & Compounds for P2RX1 Gene

(23) Drugs for P2RX1 Gene - From: ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
BzATP Pharma Full agonist, Agonist 0
NF023 Pharma Antagonist 0
NF449 Pharma Antagonist 0
TNP-ATP Pharma Antagonist 0
Ip<sub>5</sub>I Pharma Antagonist 0

(16) Additional Compounds for P2RX1 Gene - From: Novoseek, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
alphabeta-meATP
Full agonist, Agonist
L-betagamma-meATP
Full agonist, Agonist
2-Methylthioadenosine triphosphate tetrasodium salt
100020-57-3
alpha,beta-Methyleneadenosine 5'-triphosphate trisodium salt
1343364-54-4
ATP disodium salt
987-65-5

(5) Tocris Compounds for P2RX1 Gene

Compound Action Cas Number
2-Methylthioadenosine triphosphate tetrasodium salt P2 purinergic agonist 100020-57-3
alpha,beta-Methyleneadenosine 5'-triphosphate trisodium salt P2 agonist 1343364-54-4
ATP disodium salt P2 agonist 987-65-5
ATPgammaS tetralithium salt P2 agonist; ATP (Cat. No. 3245) analog 93839-89-5
BzATP triethylammonium salt Photoaffinity label for ATPase; also P2X7 agonist and P2X1/P2Y1 partial agonist 112898-15-4

(1) ApexBio Compounds for P2RX1 Gene

Compound Action Cas Number
KN-93 CaMKII inhibitor,selective and cometitive 139298-40-1
genes like me logo Genes that share compounds with P2RX1: view

Transcripts for P2RX1 Gene

Unigene Clusters for P2RX1 Gene

Purinergic receptor P2X, ligand-gated ion channel, 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for P2RX1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2:
SP3:
SP4:

Relevant External Links for P2RX1 Gene

GeneLoc Exon Structure for
P2RX1
ECgene alternative splicing isoforms for
P2RX1

Expression for P2RX1 Gene

mRNA expression in normal human tissues for P2RX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for P2RX1 Gene

This gene is overexpressed in Artery - Tibial (x14.1), Whole Blood (x9.2), Bladder (x5.9), and Pancreas (x4.5).

Protein differential expression in normal tissues from HIPED for P2RX1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (44.5) and Platelet (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for P2RX1 Gene



SOURCE GeneReport for Unigene cluster for P2RX1 Gene Hs.41735

genes like me logo Genes that share expression patterns with P2RX1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for P2RX1 Gene

Orthologs for P2RX1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for P2RX1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia P2RX1 35
  • 88.89 (n)
  • 89.47 (a)
P2RX1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia P2RX1 35
  • 88.14 (n)
  • 90.73 (a)
P2RX1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia P2rx1 35
  • 86.8 (n)
  • 89.47 (a)
P2rx1 16
P2rx1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia P2RX1 35
  • 99.5 (n)
  • 99.75 (a)
P2RX1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia P2rx1 35
  • 85.88 (n)
  • 88.97 (a)
oppossum
(Monodelphis domestica)
Mammalia P2RX1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia P2RX1 36
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves P2RX1 35
  • 72.58 (n)
  • 69.89 (a)
P2X1 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia p2rx1 35
  • 62.88 (n)
  • 62.12 (a)
zebrafish
(Danio rerio)
Actinopterygii p2rx1 35
  • 58.88 (n)
  • 55.98 (a)
p2rx1 36
  • 52 (a)
OneToOne
Species with no ortholog for P2RX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for P2RX1 Gene

ENSEMBL:
Gene Tree for P2RX1 (if available)
TreeFam:
Gene Tree for P2RX1 (if available)

Paralogs for P2RX1 Gene

Paralogs for P2RX1 Gene

(7) SIMAP similar genes for P2RX1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with P2RX1: view

Variants for P2RX1 Gene

Sequence variations from dbSNP and Humsavar for P2RX1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs34617528 - 3,897,828(-) AGAAC(A/G)TGAGG nc-transcript-variant, downstream-variant-500B, reference, missense
rs938627 -- 3,915,002(+) ACTTC(A/G)TGGTC intron-variant
rs938628 -- 3,915,149(+) CCCCA(A/G)CAGGG intron-variant
rs1007637 -- 3,914,315(+) AAACT(A/G)ATTAG intron-variant
rs711173 -- 3,897,701(-) CAGCC(A/G)GGCAG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for P2RX1 Gene

Variant ID Type Subtype PubMed ID
nsv907570 CNV Gain 21882294
nsv833343 CNV Loss 17160897
dgv3043n71 CNV Loss 21882294
dgv3044n71 CNV Loss 21882294
nsv526126 CNV Loss 19592680
nsv907578 CNV Loss 21882294
nsv907579 CNV Gain 21882294
nsv907580 CNV Loss 21882294
nsv524296 CNV Loss 19592680
nsv521340 CNV Gain 19592680
esv2505765 CNV Insertion 19546169
nsv517834 CNV Loss 19592680
dgv3045n71 CNV Loss 21882294

Variation tolerance for P2RX1 Gene

Residual Variation Intolerance Score: 41.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.44; 28.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for P2RX1 Gene

Human Gene Mutation Database (HGMD)
P2RX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P2RX1 Gene

Disorders for P2RX1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for P2RX1 Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
bleeding disorder, platelet-type, 8
  • bleeding disorder due to p2rx1 defect, somatic
neurogenic bladder
  • neurogenic dysfunction of the urinary bladder
low compliance bladder
  • hyperactivity of bladder
bruxism
  • bruxism - teeth grinding
- elite association - COSMIC cancer census association via MalaCards
Search P2RX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for P2RX1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
P2RX1
genes like me logo Genes that share disorders with P2RX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for P2RX1 Gene

Publications for P2RX1 Gene

  1. Characterization and chromosomal localization of a human P2X receptor from the urinary bladder. (PMID: 8834001) Valera S. … Buell G.N. (Recept. Channels 1995) 2 3 4 67
  2. P2X(1) and P2X(3) purinergic receptors differentially modulate the inflammatory response in human osteoarthritic synovial fibroblasts. (PMID: 20110693) Varani K. … Borea P.A. (Cell. Physiol. Biochem. 2010) 3 23
  3. Functional evidence for the expression of P2X1, P2X4 and P2X7 receptors in human lung mast cells. (PMID: 19552691) Wareham K. … Seward E.P. (Br. J. Pharmacol. 2009) 3 23
  4. The ATP-gated P2X1 receptor plays a pivotal role in activation of aspirin-treated platelets by thrombin and epinephrine. (PMID: 18480058) GrenegAYrd M. … Lindahl T.L. (J. Biol. Chem. 2008) 3 23
  5. Ectodomain lysines and suramin block of P2X1 receptors. (PMID: 18765669) Sim J.A. … North R.A. (J. Biol. Chem. 2008) 3 23

Products for P2RX1 Gene

Sources for P2RX1 Gene

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