Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | P2RY1 | Human | thrombosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17334511 | |
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | P2RY1 | Human | thrombosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:17334511 | |
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# | 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 |
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 |
P2RY1 (Homo sapiens - human) |
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P2ry1 (Mus musculus - house mouse) |
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P2ry1 (Rattus norvegicus - Norway rat) |
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P2ry1 (Chinchilla lanigera - long-tailed chinchilla) |
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P2RY1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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P2RY1 (Canis lupus familiaris - dog) |
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P2ry1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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P2RY1 (Sus scrofa - pig) |
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P2RY1 (Chlorocebus sabaeus - green monkey) |
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P2ry1 (Heterocephalus glaber - naked mole-rat) |
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Variants in P2RY1
10 total 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 |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
SHGC-77461 |
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SGC35403 |
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PMC156657P1 |
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PMC34459P1 |
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PMC34459P2 |
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P2RY1_7850 |
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UniSTS:481903 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2409 | 2788 | 2231 | 4954 | 1704 | 2300 | 4 | 605 | 1818 | 448 | 2268 | 7134 | 6355 | 49 | 3717 | 826 | 1718 | 1582 | 174 | 1 |
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: |
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RefSeq Acc Id: | NM_002563 ⟹ NP_002554 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_002554 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAA97872 | (Get FASTA) | NCBI Sequence Viewer |
AAA97873 | (Get FASTA) | NCBI Sequence Viewer | |
AAB47091 | (Get FASTA) | NCBI Sequence Viewer | |
AAB94556 | (Get FASTA) | NCBI Sequence Viewer | |
AAH74784 | (Get FASTA) | NCBI Sequence Viewer | |
AAH74785 | (Get FASTA) | NCBI Sequence Viewer | |
AAN01278 | (Get FASTA) | NCBI Sequence Viewer | |
BAG36641 | (Get FASTA) | NCBI Sequence Viewer | |
CAA07339 | (Get FASTA) | NCBI Sequence Viewer | |
CAA89066 | (Get FASTA) | NCBI Sequence Viewer | |
EAW78773 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000304767 | ||
ENSP00000304767.3 | |||
GenBank Protein | P47900 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_002554 ⟸ NM_002563 |
- UniProtKB: | P47900 (UniProtKB/Swiss-Prot), B2R9U4 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000304767 ⟸ ENST00000305097 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P47900-F1-model_v2 | AlphaFold | P47900 | 1-373 | view protein structure |
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: |
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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 |
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 |