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Aliases for P2RX1 Gene

Aliases for P2RX1 Gene

  • Purinergic Receptor P2X 1 2 3 5
  • ATP Receptor 3 4
  • P2X1 3 4
  • Purinergic Receptor P2X, Ligand-Gated Ion Channel, 1 2
  • Purinergic Receptor P2X, Ligand Gated Ion Channel, 1 3
  • Purinergic Receptor P2X1 3
  • P2X Receptor, Subunit 1 3
  • Purinergic Receptor 4
  • P2X Purinoceptor 1 3
  • 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 Innate Immune System and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. GO annotations related to this gene include ion channel activity and calcium channel activity. An important paralog of this gene is P2RX4.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G003913 1.9 FANTOM5 Ensembl ENCODE dbSUPER 64.9 +0.4 366 5.8 HDGF PKNOX1 FOXA2 ATF1 SIN3A ZNF2 ZNF48 ZNF121 ZNF766 GLIS2 P2RX1 ATP2A3 P2RX5 SMTNL2 ZZEF1 UBE2G1 GC17M003905
GH17G003885 1.8 FANTOM5 ENCODE dbSUPER 18.3 +26.1 26130 10.9 CREB3L1 FEZF1 DMAP1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 NFYC TBX21 P2RX1 CAMKK1 SHPK NCBP3 LOC105371492 ENSG00000235085 OR1E2 ZZEF1 HASPIN GC17P003894
GH17G003910 1.4 Ensembl ENCODE dbSUPER 21.4 +5.4 5353 2.0 HDGF TBP PKNOX1 WRNIP1 BMI1 ZBTB40 EGR1 RELB ETV6 IKZF2 P2RX1 GC17M003905 CAMKK1
GH17G003944 1.1 ENCODE dbSUPER 13.3 -28.4 -28403 0.9 KLF17 GLIS2 KLF7 EGR2 ZNF263 SP3 ZNF398 SP1 KLF16 SMARCA4 P2RX1 CAMKK1 SHPK CYB5D2 ATP2A3 GC17P003938
GH17G004013 1 ENCODE 12.4 -97.9 -97863 1.7 PKNOX1 MLX ZFP64 ARID4B DMAP1 ZNF48 GLIS2 ELK1 KDM4B ZNF263 P2RX1 ATP2A3 NCBP3 ANKFY1 GC17M004011 RNA5SP434
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

Post-translational modifications for P2RX1 Gene

  • Glycosylation at Asn153, posLast=184184, posLast=242242, and Asn300
  • Modification sites at PhosphoSitePlus

Other Protein References for P2RX1 Gene

No data available for DME Specific Peptides for P2RX1 Gene

Domains & Families for P2RX1 Gene

Gene Families 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:0004931 extracellular ATP-gated cation channel activity IEA,IBA --
GO:0005216 ion channel activity IEA --
GO:0005261 cation channel activity IDA 8834001
GO:0005524 ATP 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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for P2RX1 gene
Compartment Confidence
plasma membrane 5
nucleus 3
extracellular 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 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 TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane 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

Interacting Proteins for P2RX1 Gene

Gene Ontology (GO) - Biological Process for P2RX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002554 serotonin secretion by platelet IEA --
GO:0003056 regulation of vascular smooth muscle contraction IEA --
GO:0006810 transport TAS 9565569
GO:0006811 ion transport IDA,IEA 8834001
GO:0006915 apoptotic process 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

(41) Drugs for P2RX1 Gene - From: ApexBio, DGIdb, IUPHAR, HMDB, Tocris, 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
MRS 2219 Pharma 0

(13) 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
ATPgammaS tetralithium salt
93839-89-5

(5) Tocris Compounds for P2RX1 Gene

Compound Action Cas Number
A 438079 hydrochloride Competitive P2X7 antagonist 899431-18-6
A 804598 Potent and selective P2X7 antagonist 1125758-85-1
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
NF 449 Highly selective P2X1 antagonist 627034-85-9

(19) ApexBio Compounds for P2RX1 Gene

Compound Action Cas Number
2-Methylthioadenosine triphosphate tetrasodium salt 100020-57-3
BzATP triethylammonium salt 112898-15-4
iso-PPADS tetrasodium salt P2 purinoceptors antagonist, specific 207572-67-6
KN-92 hydrochloride Inactive derivative of KN-93,control compound 1431698-47-3
KN-93 CaMKII inhibitor,selective and cometitive 139298-40-1
MRS 2219 14141-47-0
NF 023 104869-31-0
NF 110 111150-22-2
NF 157 104869-26-3
NF 279 202983-32-2
NF 449 purinergic receptor antagonist 627034-85-9
PPADS tetrasodium salt 192575-19-2
PPNDS 1021868-77-8
Purotoxin 1 1396322-38-5
Ro 0437626 134362-79-1
Ro 51 1050670-85-3
RO-3 1026582-88-6
Suramin hexasodium salt 129-46-4
TNP-ATP triethylammonium salt 61368-63-6
genes like me logo Genes that share compounds with P2RX1: view

Drug Products

Transcripts for P2RX1 Gene

Unigene Clusters for P2RX1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for P2RX1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of P2RX1 Gene:

P2RX1

SOURCE GeneReport for Unigene cluster for P2RX1 Gene:

Hs.41735

Evidence on tissue expression from TISSUES for P2RX1 Gene

  • Muscle(4.5)
  • Blood(4.4)
  • Nervous system(2.7)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for P2RX1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
Organs:
Head and neck:
  • face
  • head
  • nose
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with P2RX1: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia P2RX1 34 35
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia P2RX1 34 35
  • 88.89 (n)
dog
(Canis familiaris)
Mammalia P2RX1 34 35
  • 88.14 (n)
mouse
(Mus musculus)
Mammalia P2rx1 34 16 35
  • 86.8 (n)
rat
(Rattus norvegicus)
Mammalia P2rx1 34
  • 85.88 (n)
oppossum
(Monodelphis domestica)
Mammalia P2RX1 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia P2RX1 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves P2RX1 34
  • 72.58 (n)
P2X1 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia p2rx1 34
  • 62.88 (n)
zebrafish
(Danio rerio)
Actinopterygii p2rx1 34 35
  • 58.88 (n)
Species where no ortholog for P2RX1 was found in the sources mined by GeneCards:
  • 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
rs587776702 Pathogenic 3,898,082(+) TGTGA(-/AGC)AGCAG nc-transcript-variant, cds-indel
rs1000069788 -- 3,910,925(+) CTAAC(C/T)GAATG intron-variant
rs1000114431 -- 3,900,854(+) ACTGC(A/G)TTAAT intron-variant
rs1000147475 -- 3,901,209(+) ATTAC(A/G)GGTGC intron-variant
rs1000379976 -- 3,898,278(+) GACCA(A/G)GATGG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2505765 CNV insertion 19546169
esv2761940 CNV gain 21179565
esv3336112 CNV duplication 20981092
nsv1065489 CNV gain 25217958
nsv517834 CNV loss 19592680
nsv521340 CNV gain 19592680
nsv524296 CNV loss 19592680
nsv526126 CNV loss 19592680
nsv833343 CNV loss 17160897

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
P2RX1

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

Disorders for P2RX1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for P2RX1 Gene - From: OMIM, ClinVar, GeneTests, 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
cataract 3, multiple types
  • cataract 3 multiple types
dilated cardiomyopathy
  • congestive cardiomyopathy
- 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. A natural dominant negative P2X1 receptor due to deletion of a single amino acid residue. (PMID: 10816552) Oury C. … Hoylaerts M.F. (J. Biol. Chem. 2000) 3 4 22 64
  2. P2X1 purinoceptor in human platelets. Molecular cloning and functional characterization after heterologous expression. (PMID: 9565569) Sun B. … Kambayashi J. (J. Biol. Chem. 1998) 3 4 22 64
  3. The human P2x1 receptor: molecular cloning, tissue distribution, and localization to chromosome 17. (PMID: 8809107) Longhurst P.A. … Swanson R. (Biochim. Biophys. Acta 1996) 3 4 22 64
  4. 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 64
  5. Mass spectrometry analysis of human P2X1 receptors; insight into phosphorylation, modelling and conformational changes. (PMID: 22971236) Roberts J.A. … Evans R.J. (J. Neurochem. 2012) 3 4 64

Products for P2RX1 Gene

  • Addgene plasmids for P2RX1

Sources for P2RX1 Gene

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