Human Gene P2RY1 (uc003ezq.3)
  Description: Homo sapiens purinergic receptor P2Y, G-protein coupled, 1 (P2RY1), mRNA.
RefSeq Summary (NM_002563): The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor functions as a receptor for extracellular ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr3:152,552,736-152,555,843 Size: 3,108 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr3:152,553,572-152,554,693 Size: 1,122 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:152,552,736-152,555,843)mRNA (may differ from genome)Protein (373 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: P2RY1_HUMAN
DESCRIPTION: RecName: Full=P2Y purinoceptor 1; Short=P2Y1; AltName: Full=ATP receptor; AltName: Full=Purinergic receptor;
FUNCTION: Receptor for extracellular adenine nucleotides such as ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation.
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
INDUCTION: Repressed by the P2Y1 receptor-specific antagonists A3P5PS, A3P5P and A2P5P. These inhibit calcium ion mobilization and shape change in platelets.
SIMILARITY: Belongs to the G-protein coupled receptor 1 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): P2RY1
CDC HuGE Published Literature: P2RY1
Positive Disease Associations: Eosinophils , hematology indices , Leukemia, Lymphocytic, Chronic, B-Cell , Monocytes
Related Studies:
  1. Eosinophils
    , , . [PubMed 0]
  2. hematology indices
    Hetherington, S. L. et al. 2004, Dimorphism in the P2Y1 ADP Receptor Gene Is Associated With Increased Platelet Activation Response to ADP, Arteriosclerosis, thrombosis, and vascular biology. 2005 Jan;25(1):252-7. [PubMed 15514209]
    A common genetic variant at the P2Y1 locus is associated with platelet reactivity to ADP. This genotype effect partly explains the interindividual variation in platelet response to ADP and may have clinical implications with regard to thrombotic risk.
  3. Leukemia, Lymphocytic, Chronic, B-Cell
    Rachel Wade et al. Haematologica 2011, Association between single nucleotide polymorphism-genotype and outcome of patients with chronic lymphocytic leukemia in a randomized chemotherapy trial., Haematologica. [PubMed 21659360]
    Our findings provide evidence that genetic variation is a determinant of progression-free survival of patients with chronic lymphocytic leukemia. Specific associations warrant further analyses.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: P2RY1
Diseases sorted by gene-association score: clopidogrel resistance (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C111914 N(6)-methyl-2'-deoxyadenosine 3',5'-diphosphate
  • D000255 Adenosine Triphosphate
  • D020001 1-Butanol
  • D002118 Calcium
  • C070515 bisindolylmaleimide I
  • C070379 1,2-bis(2-aminophenoxy)ethane N,N,N',N'-tetraacetic acid acetoxymethyl ester
  • C023514 2,6-dinitrotoluene
  • C113043 2-methylthio-ADP
  • C008501 2-methylthio-ATP
  • C028451 3,4,3',4'-tetrachlorobiphenyl
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.97 RPKM in Esophagus - Mucosa
Total median expression: 63.90 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -421.39836-0.504 Picture PostScript Text
3' UTR -283.791150-0.247 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000276 - 7TM_GPCR_Rhodpsn
IPR017452 - GPCR_Rhodpsn_supfam
IPR002286 - P2_purnocptor
IPR000142 - P2Y_purnocptor

Pfam Domains:
PF00001 - 7 transmembrane receptor (rhodopsin family)

SCOP Domains:
81321 - Family A G protein-coupled receptor-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1Y36 - Model


ModBase Predicted Comparative 3D Structure on P47900
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0004930 G-protein coupled receptor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0031686 A1 adenosine receptor binding
GO:0038023 signaling receptor activity
GO:0043531 ADP binding
GO:0045028 G-protein coupled purinergic nucleotide receptor activity
GO:0045031 ATP-activated adenosine receptor activity
GO:0045032 ADP-activated adenosine receptor activity
GO:0046982 protein heterodimerization activity
GO:0097110 scaffold protein binding

Biological Process:
GO:0001934 positive regulation of protein phosphorylation
GO:0001973 adenosine receptor signaling pathway
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway
GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007568 aging
GO:0007596 blood coagulation
GO:0007599 hemostasis
GO:0008347 glial cell migration
GO:0009612 response to mechanical stimulus
GO:0010469 regulation of receptor activity
GO:0010700 negative regulation of norepinephrine secretion
GO:0019233 sensory perception of pain
GO:0023019 signal transduction involved in regulation of gene expression
GO:0030168 platelet activation
GO:0032962 positive regulation of inositol trisphosphate biosynthetic process
GO:0035589 G-protein coupled purinergic nucleotide receptor signaling pathway
GO:0042060 wound healing
GO:0042755 eating behavior
GO:0043270 positive regulation of ion transport
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046887 positive regulation of hormone secretion
GO:0051100 negative regulation of binding
GO:0060406 positive regulation of penile erection
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0070848 response to growth factor
GO:0071407 cellular response to organic cyclic compound
GO:0072659 protein localization to plasma membrane
GO:0090075 relaxation of muscle
GO:0097746 regulation of blood vessel diameter

Cellular Component:
GO:0005739 mitochondrion
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0030425 dendrite
GO:0044297 cell body
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  LF206134 - JP 2014500723-A/13637: Polycomb-Associated Non-Coding RNAs.
LF211892 - JP 2014500723-A/19395: Polycomb-Associated Non-Coding RNAs.
Z49205 - H.sapiens mRNA for purinergic receptor.
LP896278 - Sequence 1142 from Patent EP3253886.
JD060138 - Sequence 41162 from Patent EP1572962.
JD338214 - Sequence 319238 from Patent EP1572962.
JD409608 - Sequence 390632 from Patent EP1572962.
JD503649 - Sequence 484673 from Patent EP1572962.
JD417115 - Sequence 398139 from Patent EP1572962.
JD394591 - Sequence 375615 from Patent EP1572962.
LF351745 - JP 2014500723-A/159248: Polycomb-Associated Non-Coding RNAs.
JD416984 - Sequence 398008 from Patent EP1572962.
JD463589 - Sequence 444613 from Patent EP1572962.
JD147735 - Sequence 128759 from Patent EP1572962.
JD421264 - Sequence 402288 from Patent EP1572962.
JD410766 - Sequence 391790 from Patent EP1572962.
AK313920 - Homo sapiens cDNA, FLJ94559, highly similar to Homo sapiens purinergic receptor P2Y, G-protein coupled, 1 (P2RY1), mRNA.
U42030 - Human P2Y1 purinoceptor mRNA, long form, complete cds.
U42029 - Human P2Y1 purinoceptor mRNA, short form, complete cds.
BC074784 - Homo sapiens purinergic receptor P2Y, G-protein coupled, 1, mRNA (cDNA clone MGC:103950 IMAGE:30915343), complete cds.
BC074785 - Homo sapiens purinergic receptor P2Y, G-protein coupled, 1, mRNA (cDNA clone MGC:104108 IMAGE:30915561), complete cds.
AB464676 - Synthetic construct DNA, clone: pF1KB9845, Homo sapiens P2RY1 gene for purinergic receptor P2Y, G-protein coupled, 1, without stop codon, in Flexi system.
KJ891741 - Synthetic construct Homo sapiens clone ccsbBroadEn_01135 P2RY1 gene, encodes complete protein.
AY136752 - Homo sapiens purinergic receptor P2RY1 (P2RY1) mRNA, complete cds.
AF018284 - Homo sapiens P2Y1 receptor (P2YR1) mRNA, partial cds.
JD301360 - Sequence 282384 from Patent EP1572962.
JD294827 - Sequence 275851 from Patent EP1572962.
JD214128 - Sequence 195152 from Patent EP1572962.
JD202423 - Sequence 183447 from Patent EP1572962.
JD146749 - Sequence 127773 from Patent EP1572962.
JD304105 - Sequence 285129 from Patent EP1572962.
JD093441 - Sequence 74465 from Patent EP1572962.
JD431624 - Sequence 412648 from Patent EP1572962.
JD102240 - Sequence 83264 from Patent EP1572962.
MA587322 - JP 2018138019-A/159248: Polycomb-Associated Non-Coding RNAs.
MA441711 - JP 2018138019-A/13637: Polycomb-Associated Non-Coding RNAs.
MA447469 - JP 2018138019-A/19395: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction

Reactome (by CSHL, EBI, and GO)

Protein P47900 (Reactome details) participates in the following event(s):

R-HSA-417908 P2RY1 binds ADP
R-HSA-418576 Dissociation of the P2Y purinoceptor 1:Gq complex
R-HSA-418581 Activated P2Y purinoceptor 1 binds G-protein Gq
R-NUL-428715 Activated human P2Y purinoceptor 1 binds mouse G-protein Gq
R-HSA-749452 The Ligand:GPCR:Gq complex dissociates
R-HSA-418579 Gq activation by P2Y purinoceptor 1
R-HSA-749448 Liganded Gq-activating GPCRs bind inactive heterotrimeric Gq
R-HSA-379048 Liganded Gq/11-activating GPCRs act as GEFs for Gq/11
R-HSA-417957 P2Y receptors
R-HSA-418592 ADP signalling through P2Y purinoceptor 1
R-HSA-416476 G alpha (q) signalling events
R-HSA-418038 Nucleotide-like (purinergic) receptors
R-HSA-392518 Signal amplification
R-HSA-388396 GPCR downstream signalling
R-HSA-373076 Class A/1 (Rhodopsin-like receptors)
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-372790 Signaling by GPCR
R-HSA-500792 GPCR ligand binding
R-HSA-109582 Hemostasis
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: NM_002563, NP_002554, P2RY1_HUMAN, P47900
UCSC ID: uc003ezq.3
RefSeq Accession: NM_002563
Protein: P47900 (aka P2RY1_HUMAN or P2YR_HUMAN)
CCDS: CCDS3169.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002563.3
exon count: 1CDS single in 3' UTR: no RNA size: 3110
ORF size: 1122CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2157.50frame shift in genome: no % Coverage: 99.94
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.