P2RX1 (purinergic receptor P2X 1) - Rat Genome Database

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Gene: P2RX1 (purinergic receptor P2X 1) Homo sapiens
Analyze
Symbol: P2RX1
Name: purinergic receptor P2X 1
RGD ID: 736780
HGNC Page HGNC:8533
Description: Enables extracellularly ATP-gated monoatomic cation channel activity; ligand-gated calcium channel activity; and purinergic nucleotide receptor activity. Acts upstream of or within monoatomic ion transport. Located in membrane raft and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATP receptor; P2X purinoceptor 1; P2X receptor, subunit 1; P2X1; P2X1 receptor; purinergic receptor P2X, ligand gated ion channel, 1; purinergic receptor P2X, ligand-gated ion channel, 1; purinergic receptor P2X1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38173,896,592 - 3,916,465 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl173,896,592 - 3,916,476 (-)EnsemblGRCh38hg38GRCh38
GRCh37173,799,886 - 3,819,759 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,746,634 - 3,766,709 (-)NCBINCBI36Build 36hg18NCBI36
Build 34173,746,633 - 3,766,709NCBI
Celera173,811,697 - 3,831,765 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef173,689,906 - 3,709,977 (-)NCBIHuRef
CHM1_1173,808,637 - 3,828,714 (-)NCBICHM1_1
T2T-CHM13v2.0173,785,217 - 3,805,777 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Lack of evidence for functional ADP-activated human P2X1 receptors supports a role for ATP during hemostasis and thrombosis. Vial C, etal., Blood. 2003 Nov 15;102(10):3646-51. Epub 2003 Aug 7.
7. Sensitization by extracellular Ca(2+) of rat P2X(5) receptor and its pharmacological properties compared with rat P2X(1). Wildman SS, etal., Mol Pharmacol 2002 Oct;62(4):957-66.
Additional References at PubMed
PMID:2457808   PMID:8809107   PMID:8834001   PMID:8961184   PMID:9558372   PMID:9565569   PMID:10638758   PMID:10816552   PMID:11376948   PMID:11809854   PMID:11815371   PMID:11816716  
PMID:12135734   PMID:12239162   PMID:12270951   PMID:12353081   PMID:12477932   PMID:12495655   PMID:12521992   PMID:12791671   PMID:14500714   PMID:14557870   PMID:14675100   PMID:14699168  
PMID:15056721   PMID:15087444   PMID:15313628   PMID:15489334   PMID:15686781   PMID:16006561   PMID:16113781   PMID:16236030   PMID:16359770   PMID:16420578   PMID:16529657   PMID:16546137  
PMID:16634759   PMID:16997281   PMID:17207965   PMID:17399929   PMID:17895406   PMID:18480058   PMID:18765669   PMID:19118095   PMID:19552691   PMID:19635923   PMID:19808895   PMID:20024498  
PMID:20068232   PMID:20110693   PMID:20345709   PMID:20374431   PMID:20660288   PMID:20699225   PMID:21690089   PMID:21757694   PMID:21768526   PMID:21873635   PMID:22212928   PMID:22393010  
PMID:22450808   PMID:22851178   PMID:22971236   PMID:23740251   PMID:23873636   PMID:23959888   PMID:23975903   PMID:24633352   PMID:24661878   PMID:24845338   PMID:25031337   PMID:27183585  
PMID:27823931   PMID:28514442   PMID:29443373   PMID:29997254   PMID:30021884   PMID:31164145   PMID:31591425   PMID:32296183   PMID:32805257   PMID:33961781   PMID:36418376   PMID:37046119  


Genomics

Comparative Map Data
P2RX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38173,896,592 - 3,916,465 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl173,896,592 - 3,916,476 (-)EnsemblGRCh38hg38GRCh38
GRCh37173,799,886 - 3,819,759 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,746,634 - 3,766,709 (-)NCBINCBI36Build 36hg18NCBI36
Build 34173,746,633 - 3,766,709NCBI
Celera173,811,697 - 3,831,765 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef173,689,906 - 3,709,977 (-)NCBIHuRef
CHM1_1173,808,637 - 3,828,714 (-)NCBICHM1_1
T2T-CHM13v2.0173,785,217 - 3,805,777 (-)NCBIT2T-CHM13v2.0
P2rx1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391172,889,882 - 72,906,026 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1172,889,929 - 72,906,026 (+)EnsemblGRCm39 Ensembl
GRCm381172,999,056 - 73,015,200 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1172,999,103 - 73,015,200 (+)EnsemblGRCm38mm10GRCm38
MGSCv371172,812,647 - 72,828,699 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361172,815,342 - 72,831,394 (+)NCBIMGSCv36mm8
Celera1180,527,873 - 80,544,046 (+)NCBICelera
Cytogenetic Map11B4NCBI
cM Map1145.09NCBI
P2rx1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81058,117,107 - 58,132,167 (+)NCBIGRCr8
mRatBN7.21057,618,586 - 57,633,648 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1057,618,586 - 57,633,623 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1062,278,958 - 62,294,266 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01061,767,428 - 61,782,744 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01057,266,507 - 57,281,823 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01059,566,268 - 59,581,328 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1059,566,223 - 59,581,325 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01059,305,737 - 59,320,797 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41059,889,933 - 59,904,985 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11059,903,555 - 59,918,605 (+)NCBI
Celera1056,742,815 - 56,757,878 (+)NCBICelera
Cytogenetic Map10q24NCBI
P2rx1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546712,955,672 - 12,971,547 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546712,955,663 - 12,971,547 (+)NCBIChiLan1.0ChiLan1.0
P2RX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21911,504,507 - 11,526,973 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11713,466,689 - 13,490,723 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0173,944,636 - 3,965,260 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1173,935,982 - 3,956,595 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl173,935,982 - 3,956,595 (-)Ensemblpanpan1.1panPan2
P2RX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1947,674,175 - 47,694,358 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl947,675,300 - 47,688,858 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha946,836,081 - 46,856,246 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0948,519,374 - 48,539,539 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl948,520,502 - 48,534,898 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1947,296,721 - 47,316,881 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0947,585,739 - 47,605,896 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0947,642,000 - 47,662,168 (-)NCBIUU_Cfam_GSD_1.0
P2rx1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560255,353,952 - 55,370,638 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936677530,330 - 548,180 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936677530,338 - 546,742 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
P2RX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1249,956,327 - 49,974,671 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11249,956,329 - 49,974,789 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21251,863,322 - 51,883,386 (-)NCBISscrofa10.2Sscrofa10.2susScr3
P2RX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1163,377,526 - 3,399,374 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl163,377,483 - 3,398,360 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605918,314,128 - 18,405,077 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
P2rx1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247866,504,250 - 6,521,821 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247866,503,367 - 6,520,802 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in P2RX1
43 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002558.4(P2RX1):c.1053GCT[2] (p.Leu354del) microsatellite Platelet-type bleeding disorder 8 [RCV000009293] Chr17:3898082..3898084 [GRCh38]
Chr17:3801376..3801378 [GRCh37]
Chr17:17p13.2		 pathogenic|uncertain significance|other
GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3 copy number gain See cases [RCV000052456] Chr17:2357067..4328426 [GRCh38]
Chr17:2260361..4231721 [GRCh37]
Chr17:2207111..4178470 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 copy number loss See cases [RCV000053406] Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
NM_002558.3(P2RX1):c.896A>G (p.Glu299Gly) single nucleotide variant Malignant melanoma [RCV000063221] Chr17:3899004 [GRCh38]
Chr17:3802298 [GRCh37]
Chr17:3749047 [NCBI36]
Chr17:17p13.2		 not provided
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 copy number loss See cases [RCV000133721] Chr17:2062380..5258340 [GRCh38]
Chr17:1965674..5161635 [GRCh37]
Chr17:1912424..5102359 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.2(chr17:3782655-4472701)x3 copy number gain See cases [RCV000139910] Chr17:3782655..4472701 [GRCh38]
Chr17:3685949..4375996 [GRCh37]
Chr17:3632698..4322745 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3 copy number gain See cases [RCV000139738] Chr17:2062429..4141883 [GRCh38]
Chr17:1965723..4045177 [GRCh37]
Chr17:1912473..3991926 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 copy number loss See cases [RCV000141559] Chr17:237248..4735533 [GRCh38]
Chr17:396627..4638828 [GRCh37]
Chr17:87039..4585577 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 copy number loss See cases [RCV000142440] Chr17:198748..4265640 [GRCh38]
Chr17:50690..4168935 [GRCh37]
Chr17:48539..4115684 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3 copy number gain See cases [RCV000240175] Chr17:919381..4046915 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1		 pathogenic
GRCh37/hg19 17p13.2(chr17:3801316-3853787)x3 copy number gain See cases [RCV000445700] Chr17:3801316..3853787 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1 copy number loss See cases [RCV000511508] Chr17:525..3825428 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
NM_002558.4(P2RX1):c.511G>A (p.Asp171Asn) single nucleotide variant Inborn genetic diseases [RCV003243918] Chr17:3903941 [GRCh38]
Chr17:3807235 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3 copy number gain See cases [RCV000512393] Chr17:3543270..4045261 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 copy number gain See cases [RCV000512413] Chr17:525..4151421 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.2(chr17:3737355-4266446)x3 copy number gain not provided [RCV000683880] Chr17:3737355..4266446 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1 copy number loss not provided [RCV000739319] Chr17:7214..3871323 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3336162-4918458)x1 copy number loss not provided [RCV000739374] Chr17:3336162..4918458 [GRCh37]
Chr17:17p13.2		 likely pathogenic
NM_002558.4(P2RX1):c.*113A>G single nucleotide variant not provided [RCV001692725] Chr17:3897701 [GRCh38]
Chr17:3800995 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.3-13.2(chr17:2050166-4315506)x1 copy number loss not provided [RCV000751897] Chr17:2050166..4315506 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_002558.4(P2RX1):c.1110C>T (p.Tyr370=) single nucleotide variant not provided [RCV000969309] Chr17:3898033 [GRCh38]
Chr17:3801327 [GRCh37]
Chr17:17p13.2		 benign
NM_002558.4(P2RX1):c.748-8C>A single nucleotide variant not provided [RCV000943439] Chr17:3899769 [GRCh38]
Chr17:3803063 [GRCh37]
Chr17:17p13.2		 likely benign
NM_002558.4(P2RX1):c.1135-9C>T single nucleotide variant not provided [RCV000894657] Chr17:3897888 [GRCh38]
Chr17:3801182 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3785678-4162530)x3 copy number gain not provided [RCV000847867] Chr17:3785678..4162530 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1 copy number loss not provided [RCV000849625] Chr17:3759126..6128911 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_002558.4(P2RX1):c.799G>A (p.Val267Ile) single nucleotide variant Inborn genetic diseases [RCV003273842] Chr17:3899710 [GRCh38]
Chr17:3803004 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.*85C>T single nucleotide variant not provided [RCV001609252] Chr17:3897729 [GRCh38]
Chr17:3801023 [GRCh37]
Chr17:17p13.2		 benign
NM_002558.4(P2RX1):c.1186A>G (p.Met396Val) single nucleotide variant not provided [RCV000968336] Chr17:3897828 [GRCh38]
Chr17:3801122 [GRCh37]
Chr17:17p13.2		 benign
NC_000017.11:g.3916706A>G single nucleotide variant not provided [RCV001657093] Chr17:3916706 [GRCh38]
Chr17:3820000 [GRCh37]
Chr17:17p13.2		 benign
NM_002558.4(P2RX1):c.138-52A>G single nucleotide variant not provided [RCV001677660] Chr17:3905419 [GRCh38]
Chr17:3808713 [GRCh37]
Chr17:17p13.2		 benign
NM_002558.4(P2RX1):c.605+51G>C single nucleotide variant not provided [RCV001675176] Chr17:3903500 [GRCh38]
Chr17:3806794 [GRCh37]
Chr17:17p13.2		 benign
NM_002558.4(P2RX1):c.606-27A>T single nucleotide variant not provided [RCV001652363] Chr17:3903370 [GRCh38]
Chr17:3806664 [GRCh37]
Chr17:17p13.2		 benign
NM_002558.4(P2RX1):c.*28G>A single nucleotide variant not provided [RCV001678568] Chr17:3897786 [GRCh38]
Chr17:3801080 [GRCh37]
Chr17:17p13.2		 benign
NM_002558.4(P2RX1):c.357+120T>C single nucleotide variant not provided [RCV001656603] Chr17:3904738 [GRCh38]
Chr17:3808032 [GRCh37]
Chr17:17p13.2		 benign
NM_002558.4(P2RX1):c.1033-30C>T single nucleotide variant not provided [RCV001614201] Chr17:3898140 [GRCh38]
Chr17:3801434 [GRCh37]
Chr17:17p13.2		 benign
NM_002558.4(P2RX1):c.525-119A>G single nucleotide variant not provided [RCV001710803] Chr17:3903750 [GRCh38]
Chr17:3807044 [GRCh37]
Chr17:17p13.2		 benign
NC_000017.11:g.3916870A>C single nucleotide variant not provided [RCV001670057] Chr17:3916870 [GRCh38]
Chr17:3820164 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.2(chr17:3543270-4045261)x3 copy number gain not provided [RCV001249276] Chr17:3543270..4045261 [GRCh37]
Chr17:17p13.2		 not provided
NC_000017.11:g.3916945G>C single nucleotide variant not provided [RCV001707433] Chr17:3916945 [GRCh38]
Chr17:3820239 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.2(chr17:3652068-3872306)x3 copy number gain not provided [RCV001834229] Chr17:3652068..3872306 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_2541583)_(3819519_?)del deletion not provided [RCV001901409] Chr17:2541583..3819519 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NC_000017.10:g.(?_1173858)_(3819519_?)dup duplication not provided [RCV002014058] Chr17:1173858..3819519 [GRCh37]
Chr17:17p13.3-13.2		 uncertain significance
NC_000017.10:g.(?_3379454)_(3819519_?)del deletion Spongy degeneration of central nervous system [RCV003119152] Chr17:3379454..3819519 [GRCh37]
Chr17:17p13.2		 pathogenic
NM_002558.4(P2RX1):c.173C>G (p.Ser58Trp) single nucleotide variant Inborn genetic diseases [RCV003252740] Chr17:3905332 [GRCh38]
Chr17:3808626 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.1072C>T (p.Pro358Ser) single nucleotide variant Inborn genetic diseases [RCV002773676] Chr17:3898071 [GRCh38]
Chr17:3801365 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.860C>T (p.Pro287Leu) single nucleotide variant Inborn genetic diseases [RCV002946513] Chr17:3899649 [GRCh38]
Chr17:3802943 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.919C>T (p.Leu307Phe) single nucleotide variant Inborn genetic diseases [RCV002751964] Chr17:3898981 [GRCh38]
Chr17:3802275 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.428G>A (p.Gly143Asp) single nucleotide variant Inborn genetic diseases [RCV002794766] Chr17:3904024 [GRCh38]
Chr17:3807318 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.163T>A (p.Tyr55Asn) single nucleotide variant Inborn genetic diseases [RCV002761907] Chr17:3905342 [GRCh38]
Chr17:3808636 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.227A>G (p.Gln76Arg) single nucleotide variant Inborn genetic diseases [RCV002980860] Chr17:3905278 [GRCh38]
Chr17:3808572 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.585T>A (p.Phe195Leu) single nucleotide variant Inborn genetic diseases [RCV003001350] Chr17:3903571 [GRCh38]
Chr17:3806865 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.286G>A (p.Gly96Arg) single nucleotide variant Inborn genetic diseases [RCV002980320] Chr17:3904929 [GRCh38]
Chr17:3808223 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.271G>A (p.Val91Ile) single nucleotide variant Inborn genetic diseases [RCV002699781] Chr17:3905234 [GRCh38]
Chr17:3808528 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.350G>A (p.Cys117Tyr) single nucleotide variant Inborn genetic diseases [RCV002826486] Chr17:3904865 [GRCh38]
Chr17:3808159 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.460G>A (p.Asp154Asn) single nucleotide variant Inborn genetic diseases [RCV003003932] Chr17:3903992 [GRCh38]
Chr17:3807286 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.892G>A (p.Val298Met) single nucleotide variant Inborn genetic diseases [RCV002789367] Chr17:3899008 [GRCh38]
Chr17:3802302 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.719G>A (p.Gly240Asp) single nucleotide variant Inborn genetic diseases [RCV002873807] Chr17:3903230 [GRCh38]
Chr17:3806524 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.7C>G (p.Arg3Gly) single nucleotide variant Inborn genetic diseases [RCV002850434] Chr17:3916219 [GRCh38]
Chr17:3819513 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.539G>A (p.Arg180Gln) single nucleotide variant Inborn genetic diseases [RCV002745055] Chr17:3903617 [GRCh38]
Chr17:3806911 [GRCh37]
Chr17:17p13.2		 likely benign
NM_002558.4(P2RX1):c.961G>A (p.Gly321Ser) single nucleotide variant Inborn genetic diseases [RCV002718132] Chr17:3898939 [GRCh38]
Chr17:3802233 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.181C>T (p.Leu61Phe) single nucleotide variant Inborn genetic diseases [RCV003212135] Chr17:3905324 [GRCh38]
Chr17:3808618 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.1151C>T (p.Ala384Val) single nucleotide variant Inborn genetic diseases [RCV003198625] Chr17:3897863 [GRCh38]
Chr17:3801157 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NM_002558.4(P2RX1):c.640A>G (p.Met214Val) single nucleotide variant Inborn genetic diseases [RCV003353611] Chr17:3903309 [GRCh38]
Chr17:3806603 [GRCh37]
Chr17:17p13.2		 uncertain significance
Single allele deletion not provided [RCV003448682] Chr17:2..4611147 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_002558.4(P2RX1):c.58C>T (p.Arg20Cys) single nucleotide variant P2RX1-related condition [RCV003427894] Chr17:3916168 [GRCh38]
Chr17:3819462 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_002558.4(P2RX1):c.73C>T (p.Arg25Cys) single nucleotide variant P2RX1-related condition [RCV003391440] Chr17:3916153 [GRCh38]
Chr17:3819447 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1 copy number loss not specified [RCV003987214] Chr17:9474..6017500 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_002558.4(P2RX1):c.840C>T (p.Tyr280=) single nucleotide variant P2RX1-related condition [RCV003906960] Chr17:3899669 [GRCh38]
Chr17:3802963 [GRCh37]
Chr17:17p13.2		 likely benign
NM_002558.4(P2RX1):c.138-7C>T single nucleotide variant P2RX1-related condition [RCV003967124] Chr17:3905374 [GRCh38]
Chr17:3808668 [GRCh37]
Chr17:17p13.2		 likely benign
NM_002558.4(P2RX1):c.1142G>A (p.Arg381His) single nucleotide variant P2RX1-related condition [RCV003963918] Chr17:3897872 [GRCh38]
Chr17:3801166 [GRCh37]
Chr17:17p13.2		 likely benign
NM_002558.4(P2RX1):c.31G>A (p.Ala11Thr) single nucleotide variant P2RX1-related condition [RCV003932306] Chr17:3916195 [GRCh38]
Chr17:3819489 [GRCh37]
Chr17:17p13.2		 likely benign
NM_002558.4(P2RX1):c.714G>A (p.Glu238=) single nucleotide variant P2RX1-related condition [RCV003969568] Chr17:3903235 [GRCh38]
Chr17:3806529 [GRCh37]
Chr17:17p13.2		 likely benign
NM_002558.4(P2RX1):c.438G>A (p.Thr146=) single nucleotide variant P2RX1-related condition [RCV003952149] Chr17:3904014 [GRCh38]
Chr17:3807308 [GRCh37]
Chr17:17p13.2		 likely benign
NM_002558.4(P2RX1):c.72G>A (p.Val24=) single nucleotide variant P2RX1-related condition [RCV003917142] Chr17:3916154 [GRCh38]
Chr17:3819448 [GRCh37]
Chr17:17p13.2		 likely benign
NM_002558.4(P2RX1):c.428-4C>T single nucleotide variant P2RX1-related condition [RCV003904334] Chr17:3904028 [GRCh38]
Chr17:3807322 [GRCh37]
Chr17:17p13.2		 likely benign
NM_002558.4(P2RX1):c.138-6G>A single nucleotide variant P2RX1-related condition [RCV003942017] Chr17:3905373 [GRCh38]
Chr17:3808667 [GRCh37]
Chr17:17p13.2		 likely benign
NM_002558.4(P2RX1):c.174G>T (p.Ser58=) single nucleotide variant P2RX1-related condition [RCV003969832] Chr17:3905331 [GRCh38]
Chr17:3808625 [GRCh37]
Chr17:17p13.2		 likely benign
NM_002558.4(P2RX1):c.1005C>T (p.Ile335=) single nucleotide variant P2RX1-related condition [RCV003954527] Chr17:3898511 [GRCh38]
Chr17:3801805 [GRCh37]
Chr17:17p13.2		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1610
Count of miRNA genes:824
Interacting mature miRNAs:979
Transcripts:ENST00000225538, ENST00000571637, ENST00000572418, ENST00000576764
Prediction methods:Miranda, Rnahybrid
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.

Markers in Region
D17S1828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,810,467 - 3,810,673UniSTSGRCh37
Build 36173,757,216 - 3,757,422RGDNCBI36
Celera173,822,279 - 3,822,487RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,700,488 - 3,700,696UniSTS
Marshfield Genetic Map1710.02UniSTS
Marshfield Genetic Map1710.02RGD
Genethon Genetic Map179.8UniSTS
TNG Radiation Hybrid Map171671.0UniSTS
deCODE Assembly Map1710.56UniSTS
Stanford-G3 RH Map17264.0UniSTS
GeneMap99-GB4 RH Map1737.24UniSTS
Whitehead-YAC Contig Map17 UniSTS
NCBI RH Map1758.5UniSTS
GeneMap99-G3 RH Map17264.0UniSTS
WI-17165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,814,624 - 3,814,748UniSTSGRCh37
Build 36173,761,373 - 3,761,497RGDNCBI36
Celera173,826,438 - 3,826,562RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,704,651 - 3,704,775UniSTS
GeneMap99-GB4 RH Map1742.99UniSTS
Whitehead-RH Map1741.2UniSTS
STS-X83688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,800,901 - 3,801,119UniSTSGRCh37
GRCh37173,800,736 - 3,800,952UniSTSGRCh37
Build 36173,747,650 - 3,747,868RGDNCBI36
Celera173,812,548 - 3,812,764UniSTS
Celera173,812,713 - 3,812,931RGD
Cytogenetic Map17p13.3UniSTS
HuRef173,690,922 - 3,691,140UniSTS
HuRef173,690,757 - 3,690,973UniSTS
GeneMap99-GB4 RH Map1739.16UniSTS
P2RX1_7847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,799,785 - 3,800,707UniSTSGRCh37
Build 36173,746,534 - 3,747,456RGDNCBI36
Celera173,811,597 - 3,812,519RGD
HuRef173,689,806 - 3,690,728UniSTS
MARC_26793-26794:1034271709:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,802,257 - 3,803,033UniSTSGRCh37
Build 36173,749,006 - 3,749,782RGDNCBI36
Celera173,814,069 - 3,814,845RGD
HuRef173,692,278 - 3,693,054UniSTS
ksks291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,802,288 - 3,802,980UniSTSGRCh37
Celera173,814,100 - 3,814,792UniSTS
HuRef173,692,309 - 3,693,001UniSTS
STS-X83688  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17p13.3UniSTS
GeneMap99-GB4 RH Map1734.82UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 5 5 5
Medium 1118 1612 24 14 1401 7 1249 498 69 28 503 528 7 259 977 2
Low 1204 1123 1338 460 480 305 2303 829 1833 261 777 757 157 1 943 1203 1 2
Below cutoff 59 248 342 137 38 136 723 842 1765 83 101 188 4 2 603 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A47363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF020498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF078925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF177472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ971536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX644575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX471560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U45448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X83688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000225538   ⟹   ENSP00000225538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,896,592 - 3,916,465 (-)Ensembl
RefSeq Acc Id: ENST00000571637   ⟹   ENSP00000460449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,905,263 - 3,916,476 (-)Ensembl
RefSeq Acc Id: ENST00000572418
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,896,592 - 3,916,452 (-)Ensembl
RefSeq Acc Id: ENST00000576764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,903,912 - 3,904,743 (-)Ensembl
RefSeq Acc Id: NM_002558   ⟹   NP_002549
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,896,592 - 3,916,465 (-)NCBI
GRCh37173,799,885 - 3,819,960 (-)ENTREZGENE
Build 36173,746,634 - 3,766,709 (-)NCBI Archive
HuRef173,689,906 - 3,709,977 (-)ENTREZGENE
CHM1_1173,808,637 - 3,828,714 (-)NCBI
T2T-CHM13v2.0173,785,217 - 3,805,711 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006721529   ⟹   XP_006721592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,896,592 - 3,916,465 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523897   ⟹   XP_011522199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,896,592 - 3,916,465 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523898   ⟹   XP_011522200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,896,592 - 3,916,465 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523899   ⟹   XP_011522201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,896,592 - 3,916,465 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011523900   ⟹   XP_011522202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,898,933 - 3,916,465 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047436158   ⟹   XP_047292114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,896,592 - 3,916,465 (-)NCBI
RefSeq Acc Id: XM_047436159   ⟹   XP_047292115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,896,592 - 3,916,465 (-)NCBI
RefSeq Acc Id: XM_047436160   ⟹   XP_047292116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,899,674 - 3,916,465 (-)NCBI
RefSeq Acc Id: XM_047436161   ⟹   XP_047292117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,898,443 - 3,916,465 (-)NCBI
RefSeq Acc Id: XM_054316289   ⟹   XP_054172264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,785,217 - 3,805,777 (-)NCBI
RefSeq Acc Id: XM_054316290   ⟹   XP_054172265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,785,217 - 3,805,711 (-)NCBI
RefSeq Acc Id: XM_054316291   ⟹   XP_054172266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,785,217 - 3,805,777 (-)NCBI
RefSeq Acc Id: XM_054316292   ⟹   XP_054172267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,785,217 - 3,805,777 (-)NCBI
RefSeq Acc Id: XM_054316293   ⟹   XP_054172268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,785,217 - 3,805,711 (-)NCBI
RefSeq Acc Id: XM_054316294   ⟹   XP_054172269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,785,217 - 3,805,777 (-)NCBI
RefSeq Acc Id: XM_054316295   ⟹   XP_054172270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,788,918 - 3,805,777 (-)NCBI
RefSeq Acc Id: XM_054316296   ⟹   XP_054172271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,787,558 - 3,805,777 (-)NCBI
RefSeq Acc Id: XM_054316297   ⟹   XP_054172272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0173,787,068 - 3,805,777 (-)NCBI
Protein Sequences
Protein RefSeqs NP_002549 (Get FASTA)   NCBI Sequence Viewer  
  XP_006721592 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522199 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522200 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522201 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522202 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292114 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292115 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292116 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292117 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172264 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172265 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172266 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172267 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172268 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172269 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172270 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172271 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172272 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC24494 (Get FASTA)   NCBI Sequence Viewer  
  AAC32187 (Get FASTA)   NCBI Sequence Viewer  
  AAC50698 (Get FASTA)   NCBI Sequence Viewer  
  AAD55395 (Get FASTA)   NCBI Sequence Viewer  
  AAH27949 (Get FASTA)   NCBI Sequence Viewer  
  AAH44657 (Get FASTA)   NCBI Sequence Viewer  
  AFU91505 (Get FASTA)   NCBI Sequence Viewer  
  BAG36073 (Get FASTA)   NCBI Sequence Viewer  
  CAA03057 (Get FASTA)   NCBI Sequence Viewer  
  CAA58657 (Get FASTA)   NCBI Sequence Viewer  
  CAI96655 (Get FASTA)   NCBI Sequence Viewer  
  EAW90471 (Get FASTA)   NCBI Sequence Viewer  
  EAW90472 (Get FASTA)   NCBI Sequence Viewer  
  EAW90473 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000225538
  ENSP00000225538.3
  ENSP00000460449.1
GenBank Protein P51575 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_002549   ⟸   NM_002558
- UniProtKB: Q9UK84 (UniProtKB/Swiss-Prot),   P51575 (UniProtKB/Swiss-Prot),   B2R876 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006721592   ⟸   XM_006721529
- Peptide Label: isoform X6
- UniProtKB: B2R876 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522199   ⟸   XM_011523897
- Peptide Label: isoform X2
- UniProtKB: B2R876 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522200   ⟸   XM_011523898
- Peptide Label: isoform X3
- UniProtKB: B2R876 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522201   ⟸   XM_011523899
- Peptide Label: isoform X4
- UniProtKB: B2R876 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522202   ⟸   XM_011523900
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000460449   ⟸   ENST00000571637
RefSeq Acc Id: ENSP00000225538   ⟸   ENST00000225538
RefSeq Acc Id: XP_047292115   ⟸   XM_047436159
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047292114   ⟸   XM_047436158
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047292117   ⟸   XM_047436161
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047292116   ⟸   XM_047436160
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054172269   ⟸   XM_054316294
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054172266   ⟸   XM_054316291
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054172267   ⟸   XM_054316292
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054172264   ⟸   XM_054316289
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054172268   ⟸   XM_054316293
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054172265   ⟸   XM_054316290
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054172272   ⟸   XM_054316297
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054172271   ⟸   XM_054316296
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054172270   ⟸   XM_054316295
- Peptide Label: isoform X7

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51575-F1-model_v2 AlphaFold P51575 1-399 view protein structure

Promoters
RGD ID:6794414
Promoter ID:HG_KWN:24713
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:NM_002558,   UC010CKM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36173,766,371 - 3,767,652 (-)MPROMDB
RGD ID:7233387
Promoter ID:EPDNEW_H22439
Type:initiation region
Name:P2RX1_1
Description:purinergic receptor P2X 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,916,465 - 3,916,525EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8533 AgrOrtholog
COSMIC P2RX1 COSMIC
Ensembl Genes ENSG00000108405 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000225538 ENTREZGENE
  ENST00000225538.4 UniProtKB/Swiss-Prot
  ENST00000571637.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.490.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  atp-gated p2x4 ion channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108405 GTEx
HGNC ID HGNC:8533 ENTREZGENE
Human Proteome Map P2RX1 Human Proteome Map
InterPro P2X1_purnocptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P2X_extracellular_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P2X_purnocptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5023 UniProtKB/Swiss-Prot
NCBI Gene 5023 ENTREZGENE
OMIM 600845 OMIM
PANTHER P2X PURINOCEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10125:SF9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam P2X_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32861 PharmGKB
PIRSF P2X_purinoceptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS P2X1RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P2XRECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE P2X_RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R876 ENTREZGENE, UniProtKB/TrEMBL
  I3L3H3_HUMAN UniProtKB/TrEMBL
  K4JYE8_HUMAN UniProtKB/TrEMBL
  P2RX1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6PIW1_HUMAN UniProtKB/TrEMBL
  Q9UK84 ENTREZGENE
UniProt Secondary Q9UK84 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 P2RX1  purinergic receptor P2X 1  P2RX1  purinergic receptor P2X, ligand gated ion channel, 1  Symbol and/or name change 5135510 APPROVED
2015-01-20 P2RX1  purinergic receptor P2X, ligand gated ion channel, 1  P2RX1  purinergic receptor P2X, ligand-gated ion channel, 1  Symbol and/or name change 5135510 APPROVED