P2RY1 (purinergic receptor P2Y1) - Rat Genome Database

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Gene: P2RY1 (purinergic receptor P2Y1) Homo sapiens
Analyze
Symbol: P2RY1
Name: purinergic receptor P2Y1
RGD ID: 736104
HGNC Page HGNC:8539
Description: Enables ATP binding activity and G protein-coupled ADP receptor activity. Involved in cellular response to purine-containing compound; phospholipase C-activating G protein-coupled receptor signaling pathway; and regulation of cell shape. Located in cilium and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADP receptor; ATP receptor; P2 purinoceptor subtype Y1; P2Y purinoceptor 1; P2Y1; platelet ADP receptor; purinergic receptor P2Y, G-protein coupled, 1; SARCC; suppressing androgen receptor in renal cell carcinoma
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383152,835,131 - 152,841,439 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3152,835,131 - 152,841,439 (+)EnsemblGRCh38hg38GRCh38
GRCh373152,552,920 - 152,559,228 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363154,035,426 - 154,038,535 (+)NCBINCBI36Build 36hg18NCBI36
Build 343154,035,433 - 154,038,539NCBI
Celera3150,971,424 - 150,974,533 (+)NCBICelera
Cytogenetic Map3q25.2NCBI
HuRef3149,943,255 - 149,946,364 (+)NCBIHuRef
CHM1_13152,516,451 - 152,519,560 (+)NCBICHM1_1
T2T-CHM13v2.03155,605,520 - 155,611,828 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,6-dinitrotoluene  (ISO)
3'-O-(4-Benzoyl)benzoyl ATP  (EXP)
3'-phospho-5'-adenylyl sulfate  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP,ISO)
3-methylcholanthrene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-bromo-2'-deoxyuridine  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
arsenite(3-)  (EXP)
ATP  (EXP,ISO)
avobenzone  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
butan-1-ol  (EXP,ISO)
butanal  (EXP)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
carbon nanotube  (EXP,ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
decabromodiphenyl ether  (ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dorsomorphin  (EXP)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glycidol  (ISO)
glyphosate  (ISO)
hydrogen peroxide  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
NAD zwitterion  (EXP)
NAD(+)  (EXP)
nickel atom  (EXP)
Nonylphenol  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pentanal  (EXP)
phencyclidine  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
rottlerin  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dodecyl sulfate  (EXP)
sulfadimethoxine  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichloroethene  (EXP,ISO)
triphenyl phosphate  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway  (IEA)
blood coagulation  (IEA)
blood vessel diameter maintenance  (IEA,ISO)
cell surface receptor signaling pathway  (TAS)
cellular response to ATP  (TAS)
cellular response to organic cyclic compound  (IEA,ISO)
cellular response to purine-containing compound  (IMP)
eating behavior  (IEA,ISO)
establishment of localization in cell  (IEA,ISO)
G protein-coupled adenosine receptor signaling pathway  (IEA)
G protein-coupled purinergic nucleotide receptor signaling pathway  (IEA)
G protein-coupled receptor signaling pathway  (IEA,ISO,ISS)
glial cell migration  (IEA,ISO)
microglial cell activation  (ISO)
monoatomic ion transport  (IEA,ISO)
negative regulation of norepinephrine secretion  (IEA,ISO)
phospholipase C-activating G protein-coupled receptor signaling pathway  (IBA,IEA,IMP,TAS)
platelet activation  (IEA)
positive regulation of cytosolic calcium ion concentration  (IEA,ISO,ISS)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISS)
positive regulation of hormone secretion  (IEA,ISO)
positive regulation of inositol trisphosphate biosynthetic process  (IEA)
positive regulation of monoatomic ion transport  (IEA,ISO)
positive regulation of penile erection  (IEA,ISO)
positive regulation of protein phosphorylation  (ISS)
positive regulation of transcription by RNA polymerase II  (IEA)
protein localization to plasma membrane  (IEA,ISS)
regulation of cell shape  (IMP)
regulation of presynaptic cytosolic calcium ion concentration  (IEA)
regulation of signaling receptor activity  (ISO)
regulation of synaptic vesicle exocytosis  (IEA)
relaxation of muscle  (IEA)
response to growth factor  (IEA,ISO)
response to mechanical stimulus  (IEA,ISO)
signal transduction involved in regulation of gene expression  (IEA,ISS)

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. P2 receptor-mediated stimulation of the PI3-K/Akt-pathway in vivo. Franke H, etal., Glia. 2009 Aug 1;57(10):1031-45.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Management of erectile function by penile purinergic p2 receptors in the diabetic rat. Gur S, etal., J Urol. 2009 May;181(5):2375-82. Epub 2009 Mar 19.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8579591   PMID:8630005   PMID:8666290   PMID:9038354   PMID:9039850   PMID:9268704   PMID:9442040   PMID:9671706   PMID:11159687   PMID:11390975   PMID:11578839   PMID:11690642  
PMID:11904146   PMID:12147294   PMID:12151016   PMID:12393588   PMID:12477932   PMID:12603858   PMID:12623443   PMID:12787128   PMID:12871508   PMID:12880424   PMID:14644082   PMID:14742685  
PMID:15099288   PMID:15187029   PMID:15203713   PMID:15284110   PMID:15489334   PMID:15496502   PMID:15509659   PMID:15514209   PMID:15590415   PMID:15602005   PMID:15665114   PMID:16267125  
PMID:16344560   PMID:16546137   PMID:16581111   PMID:16634769   PMID:16741950   PMID:16804093   PMID:16848759   PMID:17095747   PMID:17559347   PMID:17824841   PMID:18057028   PMID:18174464  
PMID:18240029   PMID:18270199   PMID:18310463   PMID:18500760   PMID:18502966   PMID:18577758   PMID:18799799   PMID:19132198   PMID:19637098   PMID:19740098   PMID:19913121   PMID:19934793  
PMID:20056178   PMID:20063989   PMID:20070609   PMID:20192270   PMID:20473398   PMID:20586915   PMID:20628086   PMID:20847060   PMID:21210088   PMID:21632028   PMID:21643756   PMID:21873635  
PMID:22052557   PMID:22079667   PMID:22249129   PMID:22250198   PMID:22450808   PMID:22574824   PMID:22610502   PMID:22701645   PMID:22721490   PMID:22916275   PMID:23382103   PMID:23828624  
PMID:23849096   PMID:23951072   PMID:24071464   PMID:24524250   PMID:24829920   PMID:24998877   PMID:25003238   PMID:25341729   PMID:25351961   PMID:25593131   PMID:25822790   PMID:25937122  
PMID:26475857   PMID:26743169   PMID:26973243   PMID:27098757   PMID:27250983   PMID:27301021   PMID:27788256   PMID:27863418   PMID:28068952   PMID:28091702   PMID:28154160   PMID:28514442  
PMID:28578353   PMID:29232918   PMID:30914039   PMID:30919205   PMID:32159362   PMID:32756482   PMID:33435130   PMID:33961781   PMID:36681816   PMID:37442808   PMID:38159881  


Genomics

Comparative Map Data
P2RY1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383152,835,131 - 152,841,439 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3152,835,131 - 152,841,439 (+)EnsemblGRCh38hg38GRCh38
GRCh373152,552,920 - 152,559,228 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363154,035,426 - 154,038,535 (+)NCBINCBI36Build 36hg18NCBI36
Build 343154,035,433 - 154,038,539NCBI
Celera3150,971,424 - 150,974,533 (+)NCBICelera
Cytogenetic Map3q25.2NCBI
HuRef3149,943,255 - 149,946,364 (+)NCBIHuRef
CHM1_13152,516,451 - 152,519,560 (+)NCBICHM1_1
T2T-CHM13v2.03155,605,520 - 155,611,828 (+)NCBIT2T-CHM13v2.0
P2ry1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39360,910,206 - 60,916,403 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl360,910,216 - 60,916,403 (+)EnsemblGRCm39 Ensembl
GRCm38361,002,785 - 61,008,982 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl361,002,795 - 61,008,982 (+)EnsemblGRCm38mm10GRCm38
MGSCv37360,806,717 - 60,812,901 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36361,090,724 - 61,096,908 (+)NCBIMGSCv36mm8
Celera360,703,955 - 60,710,141 (+)NCBICelera
Cytogenetic Map3E1NCBI
cM Map329.24NCBI
P2ry1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82147,391,661 - 147,397,870 (+)NCBIGRCr8
mRatBN7.22145,241,975 - 145,248,186 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2145,241,849 - 145,248,457 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2151,917,488 - 151,923,701 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02150,001,941 - 150,008,136 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02144,634,335 - 144,640,530 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02151,314,818 - 151,320,312 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2151,314,818 - 151,320,319 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02170,730,012 - 170,735,506 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42150,460,361 - 150,465,855 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12150,410,323 - 150,415,818 (+)NCBI
Celera2139,634,729 - 139,640,224 (+)NCBICelera
Cytogenetic Map2q31NCBI
P2ry1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554484,366,706 - 4,372,626 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554484,366,706 - 4,372,626 (+)NCBIChiLan1.0ChiLan1.0
P2RY1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22150,726,644 - 150,733,886 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13150,731,389 - 150,738,619 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03149,859,748 - 149,865,873 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13157,426,423 - 157,432,339 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3157,426,692 - 157,427,813 (+)Ensemblpanpan1.1panPan2
P2RY1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12347,249,496 - 47,253,203 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2347,249,496 - 47,253,203 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2347,112,593 - 47,116,262 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02347,878,074 - 47,881,878 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2347,878,074 - 47,881,878 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12347,462,527 - 47,466,223 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02347,517,721 - 47,521,447 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02347,800,041 - 47,803,744 (+)NCBIUU_Cfam_GSD_1.0
P2ry1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560288,861,485 - 88,867,833 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936519866,208 - 872,393 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936519865,756 - 872,466 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
P2RY1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1392,991,152 - 92,997,700 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11392,991,150 - 92,997,702 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213101,032,051 - 101,038,362 (+)NCBISscrofa10.2Sscrofa10.2susScr3
P2RY1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11537,822,474 - 37,827,245 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604110,556,129 - 10,561,290 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
P2ry1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473030,471,610 - 30,476,941 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473030,470,894 - 30,478,269 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in P2RY1
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q25.1-25.2(chr3:151142354-154931417)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051577]|See cases [RCV000051577] Chr3:151142354..154931417 [GRCh38]
Chr3:150860141..154649206 [GRCh37]
Chr3:152342831..156131900 [NCBI36]
Chr3:3q25.1-25.2
pathogenic
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32
pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29
pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29
pathogenic
NM_002563.3(P2RY1):c.240G>A (p.Met80Ile) single nucleotide variant Malignant melanoma [RCV000065892] Chr3:152836022 [GRCh38]
Chr3:152553811 [GRCh37]
Chr3:154036501 [NCBI36]
Chr3:3q25.2
not provided
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29
pathogenic
GRCh38/hg38 3q25.1-25.2(chr3:151429416-155118646)x1 copy number loss See cases [RCV000141813] Chr3:151429416..155118646 [GRCh38]
Chr3:151147204..154836435 [GRCh37]
Chr3:152629894..156319129 [NCBI36]
Chr3:3q25.1-25.2
likely pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29
pathogenic
GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1 copy number loss See cases [RCV000447056] Chr3:148425748..153220169 [GRCh37]
Chr3:3q24-25.2
pathogenic
GRCh37/hg19 3q25.2(chr3:152289517-152981787)x1 copy number loss See cases [RCV000445846] Chr3:152289517..152981787 [GRCh37]
Chr3:3q25.2
uncertain significance
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29
pathogenic
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q25.1-25.2(chr3:150352753-153522663)x1 copy number loss See cases [RCV000510834] Chr3:150352753..153522663 [GRCh37]
Chr3:3q25.1-25.2
likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1 copy number loss not provided [RCV001005477] Chr3:149404255..152786331 [GRCh37]
Chr3:3q25.1-25.2
pathogenic
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31
pathogenic
GRCh37/hg19 3q25.2(chr3:152400954-152626310)x3 copy number gain not provided [RCV001005479] Chr3:152400954..152626310 [GRCh37]
Chr3:3q25.2
likely benign
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
GRCh37/hg19 3q25.1-25.2(chr3:151702938-152648714)x1 copy number loss not provided [RCV001259245] Chr3:151702938..152648714 [GRCh37]
Chr3:3q25.1-25.2
uncertain significance
GRCh37/hg19 3q25.2(chr3:152493505-152755333)x3 copy number gain not provided [RCV001259246] Chr3:152493505..152755333 [GRCh37]
Chr3:3q25.2
likely benign|uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1
pathogenic
GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3 copy number gain Brachycephaly [RCV001801182] Chr3:142729607..157921084 [GRCh37]
Chr3:3q23-25.32
pathogenic
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1 copy number loss not provided [RCV001795847] Chr3:143439359..165252122 [GRCh37]
Chr3:3q24-26.1
pathogenic
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834) copy number gain not specified [RCV002053375] Chr3:145486960..160504834 [GRCh37]
Chr3:3q24-25.33
pathogenic
GRCh37/hg19 3q25.1-25.2(chr3:151147204-154845718) copy number loss not specified [RCV002053377] Chr3:151147204..154845718 [GRCh37]
Chr3:3q25.1-25.2
uncertain significance
NM_002563.5(P2RY1):c.513C>G (p.Ile171Met) single nucleotide variant not specified [RCV004139543] Chr3:152836295 [GRCh38]
Chr3:152554084 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_002563.5(P2RY1):c.284T>C (p.Leu95Pro) single nucleotide variant not specified [RCV004164018] Chr3:152836066 [GRCh38]
Chr3:152553855 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_002563.5(P2RY1):c.106G>C (p.Val36Leu) single nucleotide variant not specified [RCV004101863] Chr3:152835888 [GRCh38]
Chr3:152553677 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_002563.5(P2RY1):c.667G>A (p.Val223Met) single nucleotide variant not specified [RCV004227470] Chr3:152836449 [GRCh38]
Chr3:152554238 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_002563.5(P2RY1):c.338A>G (p.Asn113Ser) single nucleotide variant not specified [RCV004214806] Chr3:152836120 [GRCh38]
Chr3:152553909 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_002563.5(P2RY1):c.878C>T (p.Pro293Leu) single nucleotide variant not specified [RCV004208706] Chr3:152836660 [GRCh38]
Chr3:152554449 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_002563.5(P2RY1):c.61C>G (p.Pro21Ala) single nucleotide variant not specified [RCV004075017] Chr3:152835843 [GRCh38]
Chr3:152553632 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_002563.5(P2RY1):c.65G>A (p.Gly22Asp) single nucleotide variant not specified [RCV004344851] Chr3:152835847 [GRCh38]
Chr3:152553636 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_002563.5(P2RY1):c.10G>A (p.Val4Met) single nucleotide variant not specified [RCV004355667] Chr3:152835792 [GRCh38]
Chr3:152553581 [GRCh37]
Chr3:3q25.2
uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29
pathogenic
NM_002563.5(P2RY1):c.4A>G (p.Thr2Ala) single nucleotide variant not specified [RCV004650625] Chr3:152835786 [GRCh38]
Chr3:152553575 [GRCh37]
Chr3:3q25.2
uncertain significance
NM_002563.5(P2RY1):c.440C>G (p.Ala147Gly) single nucleotide variant not specified [RCV004650626] Chr3:152836222 [GRCh38]
Chr3:152554011 [GRCh37]
Chr3:3q25.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:389
Count of miRNA genes:323
Interacting mature miRNAs:347
Transcripts:ENST00000305097
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300026BP36_HBlood pressure QTL 36 (human)4.04Blood pressurehypertension susceptibility3135720453161720453Human
1298415BP24_HBlood pressure QTL 24 (human)2.9Blood pressurehypertension susceptibility3135720453161720453Human

Markers in Region
SHGC-77461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373152,555,517 - 152,555,737UniSTSGRCh37
Build 363154,038,207 - 154,038,427RGDNCBI36
Celera3150,974,205 - 150,974,425RGD
Cytogenetic Map3q25.2UniSTS
HuRef3149,946,036 - 149,946,256UniSTS
TNG Radiation Hybrid Map387068.0UniSTS
GeneMap99-GB4 RH Map3560.06UniSTS
SGC35403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373152,554,694 - 152,554,894UniSTSGRCh37
Build 363154,037,384 - 154,037,584RGDNCBI36
Celera3150,973,382 - 150,973,582RGD
Cytogenetic Map3q25.2UniSTS
HuRef3149,945,213 - 149,945,413UniSTS
GeneMap99-GB4 RH Map3561.64UniSTS
Whitehead-RH Map3694.1UniSTS
NCBI RH Map31327.2UniSTS
PMC156657P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373152,553,710 - 152,554,262UniSTSGRCh37
Build 363154,036,400 - 154,036,952RGDNCBI36
Celera3150,972,398 - 150,972,950RGD
Cytogenetic Map3q25.2UniSTS
HuRef3149,944,229 - 149,944,781UniSTS
PMC34459P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373152,553,841 - 152,554,492UniSTSGRCh37
Build 363154,036,531 - 154,037,182RGDNCBI36
Celera3150,972,529 - 150,973,180RGD
HuRef3149,944,360 - 149,945,011UniSTS
PMC34459P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373152,554,075 - 152,554,702UniSTSGRCh37
Build 363154,036,765 - 154,037,392RGDNCBI36
Celera3150,972,763 - 150,973,390RGD
Cytogenetic Map3q25.2UniSTS
HuRef3149,944,594 - 149,945,221UniSTS
P2RY1_7850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373152,555,244 - 152,556,038UniSTSGRCh37
Build 363154,037,934 - 154,038,728RGDNCBI36
Celera3150,973,932 - 150,974,726RGD
HuRef3149,945,763 - 149,946,557UniSTS
UniSTS:481903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373152,553,550 - 152,554,714UniSTSGRCh37
Celera3150,972,238 - 150,973,402UniSTS
HuRef3149,944,069 - 149,945,233UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2409 2788 2231 4954 1704 2300 4 605 1818 448 2268 7134 6355 49 3717 826 1718 1582 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC013251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF018284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ006945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY136752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA396016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA453416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S81950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U42029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U42030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z49205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000305097   ⟹   ENSP00000304767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3152,835,131 - 152,841,439 (+)Ensembl
RefSeq Acc Id: NM_002563   ⟹   NP_002554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383152,835,131 - 152,841,439 (+)NCBI
GRCh373152,552,736 - 152,555,845 (+)ENTREZGENE
Build 363154,035,426 - 154,038,535 (+)NCBI Archive
HuRef3149,943,255 - 149,946,364 (+)ENTREZGENE
CHM1_13152,516,197 - 152,522,943 (+)NCBI
T2T-CHM13v2.03155,605,520 - 155,611,828 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002554   ⟸   NM_002563
- UniProtKB: P47900 (UniProtKB/Swiss-Prot),   B2R9U4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000304767   ⟸   ENST00000305097
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P47900-F1-model_v2 AlphaFold P47900 1-373 view protein structure

Promoters
RGD ID:6800952
Promoter ID:HG_KWN:46504
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000407427
Position:
Human AssemblyChrPosition (strand)Source
Build 363154,035,269 - 154,035,769 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8539 AgrOrtholog
COSMIC P2RY1 COSMIC
Ensembl Genes ENSG00000169860 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000305097 ENTREZGENE
  ENST00000305097.6 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169860 GTEx
HGNC ID HGNC:8539 ENTREZGENE
Human Proteome Map P2RY1 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P2Y1_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5028 UniProtKB/Swiss-Prot
NCBI Gene 5028 ENTREZGENE
OMIM 601167 OMIM
PANTHER P2Y PURINOCEPTOR 1 UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  PURINOCEPTOR-RELATED G-PROTEIN COUPLED RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB P2RY1 RGD, PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P2Y1PRNOCPTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P2YPURNOCPTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R9U4 ENTREZGENE, UniProtKB/TrEMBL
  P2RY1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 P2RY1  purinergic receptor P2Y1  P2RY1  purinergic receptor P2Y, G-protein coupled, 1  Symbol and/or name change 5135510 APPROVED