HCRTR1 (hypocretin receptor 1) - Rat Genome Database

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Gene: HCRTR1 (hypocretin receptor 1) Homo sapiens
Analyze
Symbol: HCRTR1
Name: hypocretin receptor 1
RGD ID: 734418
HGNC Page HGNC:4848
Description: Enables orexin receptor activity. Involved in neuropeptide signaling pathway and regulation of cytosolic calcium ion concentration. Located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hypocretin (orexin) receptor 1; hypocretin receptor type 1; hypocretin receptor-1; orexin receptor 1; orexin receptor type 1; orexin receptor-1; orexin/Hypocretin receptor type 1; ORXR1; ox-1-R; ox1-R; OX1R; OXR1
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
GRCh38131,617,689 - 31,634,492 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl131,617,686 - 31,632,518 (+)EnsemblGRCh38hg38GRCh38
GRCh37132,083,290 - 32,093,214 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36131,857,228 - 31,865,301 (+)NCBINCBI36Build 36hg18NCBI36
Build 34131,753,733 - 31,761,807NCBI
Celera130,352,534 - 30,362,141 (+)NCBICelera
Cytogenetic Map1p35.2NCBI
HuRef130,200,818 - 30,210,425 (+)NCBIHuRef
CHM1_1132,199,098 - 32,208,715 (+)NCBICHM1_1
T2T-CHM13v2.0131,475,343 - 31,490,165 (+)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
membrane  (IEA)
plasma membrane  (IDA,IEA,TAS)
synapse  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. The neural circuit of orexin (hypocretin): maintaining sleep and wakefulness. Sakurai T Nat Rev Neurosci. 2007 Mar;8(3):171-81. Epub 2007 Feb 14.
4. Orexins and orexin receptors: a family of hypothalamic neuropeptides and G protein-coupled receptors that regulate feeding behavior. Sakurai T, etal., Cell 1998 Feb 20;92(4):573-85.
5. Orexin receptor type-1 couples exclusively to pertussis toxin-insensitive G-proteins, while orexin receptor type-2 couples to both pertussis toxin-sensitive and -insensitive G-proteins. Zhu Y, etal., J Pharmacol Sci. 2003 Jul;92(3):259-66.
Additional References at PubMed
PMID:9419374   PMID:9491885   PMID:9527442   PMID:10973318   PMID:11283317   PMID:11340621   PMID:11443222   PMID:11723285   PMID:11856342   PMID:12477932   PMID:12690115   PMID:15070969  
PMID:15611118   PMID:15797953   PMID:15978554   PMID:16157481   PMID:16282319   PMID:16344560   PMID:16754659   PMID:17089135   PMID:17999203   PMID:18198212   PMID:18450961   PMID:18714784  
PMID:19058789   PMID:19086053   PMID:19118115   PMID:19464259   PMID:19661287   PMID:20002100   PMID:20398908   PMID:20468064   PMID:20621130   PMID:20728215   PMID:21071097   PMID:21318258  
PMID:21344296   PMID:21378163   PMID:21510948   PMID:21666548   PMID:21873635   PMID:21908614   PMID:22028875   PMID:22389503   PMID:22550093   PMID:23034387   PMID:24268496   PMID:24333629  
PMID:24530395   PMID:24910418   PMID:24969517   PMID:25132134   PMID:25212464   PMID:25515760   PMID:25677777   PMID:25857454   PMID:25866368   PMID:25957175   PMID:26447462   PMID:26459696  
PMID:26555080   PMID:26950369   PMID:27237973   PMID:27988352   PMID:28319085   PMID:28717967   PMID:28939058   PMID:30207631   PMID:30251681   PMID:30326460   PMID:30348769   PMID:30596528  
PMID:30718541   PMID:30742846   PMID:31668922   PMID:31983458   PMID:32652147   PMID:33212156   PMID:34439801   PMID:34472713   PMID:37054895   PMID:37572990  


Genomics

Comparative Map Data
HCRTR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38131,617,689 - 31,634,492 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl131,617,686 - 31,632,518 (+)EnsemblGRCh38hg38GRCh38
GRCh37132,083,290 - 32,093,214 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36131,857,228 - 31,865,301 (+)NCBINCBI36Build 36hg18NCBI36
Build 34131,753,733 - 31,761,807NCBI
Celera130,352,534 - 30,362,141 (+)NCBICelera
Cytogenetic Map1p35.2NCBI
HuRef130,200,818 - 30,210,425 (+)NCBIHuRef
CHM1_1132,199,098 - 32,208,715 (+)NCBICHM1_1
T2T-CHM13v2.0131,475,343 - 31,490,165 (+)NCBIT2T-CHM13v2.0
Hcrtr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394130,024,010 - 130,033,389 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4130,024,010 - 130,033,152 (-)EnsemblGRCm39 Ensembl
GRCm384130,130,217 - 130,139,594 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4130,130,217 - 130,139,359 (-)EnsemblGRCm38mm10GRCm38
MGSCv374129,807,461 - 129,816,406 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364129,632,521 - 129,641,466 (-)NCBIMGSCv36mm8
Celera4128,464,692 - 128,473,445 (-)NCBICelera
Cytogenetic Map4D2.2NCBI
cM Map463.43NCBI
Hcrtr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85147,761,392 - 147,771,846 (-)NCBIGRCr8
mRatBN7.25142,477,214 - 142,486,674 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5142,477,214 - 142,486,674 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5145,177,816 - 145,187,460 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05146,947,628 - 146,957,270 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05146,945,402 - 146,954,867 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05148,346,029 - 148,355,404 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5148,346,031 - 148,355,406 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05152,064,507 - 152,073,882 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45149,160,739 - 149,170,736 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15149,170,777 - 149,180,775 (-)NCBI
Celera5140,944,936 - 140,954,306 (-)NCBICelera
Cytogenetic Map5q36NCBI
Hcrtr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545210,026,464 - 10,036,186 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545210,026,464 - 10,036,267 (+)NCBIChiLan1.0ChiLan1.0
HCRTR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21195,201,771 - 195,212,007 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11194,323,439 - 194,333,994 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0130,901,772 - 30,913,633 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1131,918,650 - 31,928,290 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl131,919,980 - 31,928,290 (+)Ensemblpanpan1.1panPan2
HCRTR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1269,484,776 - 69,493,956 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl269,480,199 - 69,494,005 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha266,064,201 - 66,072,739 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0270,050,261 - 70,058,799 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl270,045,316 - 70,057,436 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1266,886,002 - 66,894,539 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0267,882,448 - 67,890,972 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0268,881,857 - 68,890,396 (-)NCBIUU_Cfam_GSD_1.0
Hcrtr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505848,908,833 - 48,920,670 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647414,735,638 - 14,742,854 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647414,735,654 - 14,744,112 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HCRTR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl688,139,498 - 88,154,848 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1688,139,623 - 88,149,531 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2681,853,666 - 81,864,501 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HCRTR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120101,241,742 - 101,252,841 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20101,243,586 - 101,251,349 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603315,439,702 - 15,447,823 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hcrtr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476414,862,397 - 14,869,739 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476414,861,672 - 14,872,728 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HCRTR1
46 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3 copy number gain See cases [RCV000051801] Chr1:26963045..32279045 [GRCh38]
Chr1:27289536..32744646 [GRCh37]
Chr1:27162123..32517233 [NCBI36]
Chr1:1p36.11-35.2		 pathogenic
GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3 copy number gain See cases [RCV000051802] Chr1:31122108..32402160 [GRCh38]
Chr1:31594955..32867761 [GRCh37]
Chr1:31367542..32640348 [NCBI36]
Chr1:1p35.2-35.1		 pathogenic
GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1 copy number loss See cases [RCV000053802] Chr1:30766758..33359428 [GRCh38]
Chr1:31239605..33825029 [GRCh37]
Chr1:31012192..33597616 [NCBI36]
Chr1:1p35.2-35.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001525.3(HCRTR1):c.211G>A (p.Val71Met) single nucleotide variant Inborn genetic diseases [RCV003270243] Chr1:31619543 [GRCh38]
Chr1:32085144 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.959T>C (p.Leu320Pro) single nucleotide variant Inborn genetic diseases [RCV003241730] Chr1:31623743 [GRCh38]
Chr1:32089344 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_012392.4(PEF1):c.694C>T (p.Arg232Cys) single nucleotide variant Inborn genetic diseases [RCV003273624] Chr1:31630774 [GRCh38]
Chr1:32096375 [GRCh37]
Chr1:1p35.2		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_001525.3(HCRTR1):c.965+10C>T single nucleotide variant not provided [RCV000921583] Chr1:31623759 [GRCh38]
Chr1:32089360 [GRCh37]
Chr1:1p35.2		 likely benign
NM_001525.3(HCRTR1):c.237A>G (p.Thr79=) single nucleotide variant not provided [RCV000960217] Chr1:31619569 [GRCh38]
Chr1:32085170 [GRCh37]
Chr1:1p35.2		 benign
GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3 copy number gain not provided [RCV001005079] Chr1:30819875..34380419 [GRCh37]
Chr1:1p35.2-35.1		 likely pathogenic
GRCh37/hg19 1p35.2(chr1:32090118-32280833)x3 copy number gain not provided [RCV000846698] Chr1:32090118..32280833 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.210C>T (p.Ala70=) single nucleotide variant not provided [RCV000885586] Chr1:31619542 [GRCh38]
Chr1:32085143 [GRCh37]
Chr1:1p35.2		 benign
GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1 copy number loss See cases [RCV000135447] Chr1:28424867..33122854 [GRCh38]
Chr1:28751378..33588455 [GRCh37]
Chr1:28623965..33361042 [NCBI36]
Chr1:1p35.3-35.1		 pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2		 pathogenic
GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3 copy number gain See cases [RCV000142920] Chr1:30864842..32021241 [GRCh38]
Chr1:31337689..32486842 [GRCh37]
Chr1:31110276..32259429 [NCBI36]
Chr1:1p35.2		 uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p35.2-34.3(chr1:31562164-37421958)x3 copy number gain not provided [RCV000748949] Chr1:31562164..37421958 [GRCh37]
Chr1:1p35.2-34.3		 pathogenic
NM_001525.3(HCRTR1):c.836G>A (p.Arg279Gln) single nucleotide variant not provided [RCV000964805] Chr1:31623620 [GRCh38]
Chr1:32089221 [GRCh37]
Chr1:1p35.2		 benign
GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121) copy number gain not specified [RCV002052559] Chr1:27543877..32819121 [GRCh37]
Chr1:1p36.11-35.1		 uncertain significance
NM_001525.3(HCRTR1):c.418A>G (p.Ile140Val) single nucleotide variant Inborn genetic diseases [RCV002841882] Chr1:31620882 [GRCh38]
Chr1:32086483 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.11C>T (p.Ser4Leu) single nucleotide variant Inborn genetic diseases [RCV002841142] Chr1:31619203 [GRCh38]
Chr1:32084804 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.823G>A (p.Glu275Lys) single nucleotide variant Inborn genetic diseases [RCV002865956] Chr1:31623607 [GRCh38]
Chr1:32089208 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_012392.4(PEF1):c.372G>T (p.Gln124His) single nucleotide variant Inborn genetic diseases [RCV002662308] Chr1:31633268 [GRCh38]
Chr1:32098869 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.319G>A (p.Asp107Asn) single nucleotide variant Inborn genetic diseases [RCV002981144] Chr1:31619651 [GRCh38]
Chr1:32085252 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.1084A>G (p.Ser362Gly) single nucleotide variant Inborn genetic diseases [RCV002978629] Chr1:31625115 [GRCh38]
Chr1:32090716 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.538G>A (p.Ala180Thr) single nucleotide variant Inborn genetic diseases [RCV003252555] Chr1:31621002 [GRCh38]
Chr1:32086603 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.946G>A (p.Val316Ile) single nucleotide variant Inborn genetic diseases [RCV002974173] Chr1:31623730 [GRCh38]
Chr1:32089331 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.982C>T (p.Arg328Cys) single nucleotide variant Inborn genetic diseases [RCV002693990] Chr1:31625013 [GRCh38]
Chr1:32090614 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_012392.4(PEF1):c.683G>A (p.Arg228His) single nucleotide variant Inborn genetic diseases [RCV002703820] Chr1:31630785 [GRCh38]
Chr1:32096386 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_012392.4(PEF1):c.601A>G (p.Ile201Val) single nucleotide variant Inborn genetic diseases [RCV002980589] Chr1:31632519 [GRCh38]
Chr1:32098120 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_012392.4(PEF1):c.773G>A (p.Arg258Gln) single nucleotide variant Inborn genetic diseases [RCV002998177] Chr1:31630695 [GRCh38]
Chr1:32096296 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_012392.4(PEF1):c.829A>G (p.Thr277Ala) single nucleotide variant Inborn genetic diseases [RCV002743474] Chr1:31630639 [GRCh38]
Chr1:32096240 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_012392.4(PEF1):c.383C>T (p.Ser128Leu) single nucleotide variant Inborn genetic diseases [RCV002802892] Chr1:31633257 [GRCh38]
Chr1:32098858 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_012392.4(PEF1):c.584G>A (p.Arg195Gln) single nucleotide variant Inborn genetic diseases [RCV002698509] Chr1:31632536 [GRCh38]
Chr1:32098137 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_012392.4(PEF1):c.398A>G (p.Tyr133Cys) single nucleotide variant Inborn genetic diseases [RCV002893797] Chr1:31633242 [GRCh38]
Chr1:32098843 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.983G>A (p.Arg328His) single nucleotide variant Inborn genetic diseases [RCV002708667] Chr1:31625014 [GRCh38]
Chr1:32090615 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_012392.4(PEF1):c.788C>A (p.Ala263Asp) single nucleotide variant Inborn genetic diseases [RCV002803062] Chr1:31630680 [GRCh38]
Chr1:32096281 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.1097G>A (p.Arg366Gln) single nucleotide variant Inborn genetic diseases [RCV002789685] Chr1:31626799 [GRCh38]
Chr1:32092400 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.673C>G (p.Leu225Val) single nucleotide variant Inborn genetic diseases [RCV002669071] Chr1:31621527 [GRCh38]
Chr1:32087128 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.649A>G (p.Ser217Gly) single nucleotide variant Inborn genetic diseases [RCV002669065] Chr1:31621503 [GRCh38]
Chr1:32087104 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.767G>A (p.Arg256Gln) single nucleotide variant Inborn genetic diseases [RCV002655954] Chr1:31623551 [GRCh38]
Chr1:32089152 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.194C>T (p.Thr65Met) single nucleotide variant Inborn genetic diseases [RCV002679559] Chr1:31619386 [GRCh38]
Chr1:32084987 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_012392.4(PEF1):c.521A>G (p.Tyr174Cys) single nucleotide variant Inborn genetic diseases [RCV003185527] Chr1:31632599 [GRCh38]
Chr1:32098200 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.1105T>C (p.Phe369Leu) single nucleotide variant Inborn genetic diseases [RCV003186120] Chr1:31626807 [GRCh38]
Chr1:32092408 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.478C>T (p.Arg160Trp) single nucleotide variant Inborn genetic diseases [RCV003180189] Chr1:31620942 [GRCh38]
Chr1:32086543 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.33G>A (p.Met11Ile) single nucleotide variant Inborn genetic diseases [RCV003304893] Chr1:31619225 [GRCh38]
Chr1:32084826 [GRCh37]
Chr1:1p35.2		 likely benign
NM_001525.3(HCRTR1):c.1258G>A (p.Val420Ile) single nucleotide variant Inborn genetic diseases [RCV003368899] Chr1:31626960 [GRCh38]
Chr1:32092561 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.343G>A (p.Gly115Ser) single nucleotide variant Inborn genetic diseases [RCV003370021] Chr1:31619675 [GRCh38]
Chr1:32085276 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.260A>G (p.Asn87Ser) single nucleotide variant Inborn genetic diseases [RCV003347474] Chr1:31619592 [GRCh38]
Chr1:32085193 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.898C>A (p.Leu300Met) single nucleotide variant Inborn genetic diseases [RCV003361924] Chr1:31623682 [GRCh38]
Chr1:32089283 [GRCh37]
Chr1:1p35.2		 uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
NM_001525.3(HCRTR1):c.766C>T (p.Arg256Trp) single nucleotide variant Inborn genetic diseases [RCV002709524] Chr1:31623550 [GRCh38]
Chr1:32089151 [GRCh37]
Chr1:1p35.2		 uncertain significance
NM_001525.3(HCRTR1):c.218G>A (p.Arg73Gln) single nucleotide variant Inborn genetic diseases [RCV002784476] Chr1:31619550 [GRCh38]
Chr1:32085151 [GRCh37]
Chr1:1p35.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1281
Count of miRNA genes:655
Interacting mature miRNAs:777
Transcripts:ENST00000373705, ENST00000373706, ENST00000403528, ENST00000468521, ENST00000485464
Prediction methods:Microtar, 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.

Markers in Region
SHGC-74525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37132,092,488 - 32,092,671UniSTSGRCh37
Build 36131,865,075 - 31,865,258RGDNCBI36
Celera130,361,710 - 30,361,893RGD
Cytogenetic Map1p33UniSTS
HuRef130,209,994 - 30,210,177UniSTS
TNG Radiation Hybrid Map114899.0UniSTS
GeneMap99-GB4 RH Map198.63UniSTS
NCBI RH Map1165.8UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 1 2
Low 544 426 864 103 1 407 595 684 22 72 624 491 132 1
Below cutoff 1688 2192 585 367 1180 231 3681 1550 2806 280 1202 853 145 698 2502 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017001107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC114488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF041243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX088174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY062030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY070269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CO960455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA803650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373705   ⟹   ENSP00000362809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl131,619,193 - 31,632,518 (+)Ensembl
RefSeq Acc Id: ENST00000373706   ⟹   ENSP00000362810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl131,619,040 - 31,627,191 (+)Ensembl
RefSeq Acc Id: ENST00000403528   ⟹   ENSP00000384387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl131,617,689 - 31,627,613 (+)Ensembl
RefSeq Acc Id: ENST00000468521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl131,617,686 - 31,627,613 (+)Ensembl
RefSeq Acc Id: ENST00000485464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl131,617,686 - 31,623,749 (+)Ensembl
RefSeq Acc Id: ENST00000686354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl131,619,040 - 31,627,113 (+)Ensembl
RefSeq Acc Id: NM_001525   ⟹   NP_001516
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38131,617,689 - 31,627,613 (+)NCBI
GRCh37132,083,290 - 32,093,214 (+)NCBI
Build 36131,857,228 - 31,865,301 (+)NCBI Archive
HuRef130,200,818 - 30,210,425 (+)ENTREZGENE
CHM1_1132,199,098 - 32,208,715 (+)NCBI
T2T-CHM13v2.0131,475,343 - 31,485,259 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017001107   ⟹   XP_016856596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38131,618,469 - 31,634,492 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446605   ⟹   XP_024302373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38131,617,689 - 31,629,908 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054336200   ⟹   XP_054192175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0131,475,422 - 31,488,077 (+)NCBI
RefSeq Acc Id: XM_054336201   ⟹   XP_054192176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0131,476,067 - 31,488,077 (+)NCBI
RefSeq Acc Id: XM_054336202   ⟹   XP_054192177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0131,476,123 - 31,490,165 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001516   ⟸   NM_001525
- UniProtKB: A8K3A6 (UniProtKB/Swiss-Prot),   Q9HBV6 (UniProtKB/Swiss-Prot),   O43613 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016856596   ⟸   XM_017001107
- Peptide Label: isoform X2
- UniProtKB: A6NMV7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302373   ⟸   XM_024446605
- Peptide Label: isoform X1
- UniProtKB: O43613 (UniProtKB/Swiss-Prot),   A8K3A6 (UniProtKB/Swiss-Prot),   Q9HBV6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000362809   ⟸   ENST00000373705
RefSeq Acc Id: ENSP00000362810   ⟸   ENST00000373706
RefSeq Acc Id: ENSP00000384387   ⟸   ENST00000403528
RefSeq Acc Id: XP_054192175   ⟸   XM_054336200
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054192176   ⟸   XM_054336201
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054192177   ⟸   XM_054336202
- Peptide Label: isoform X2
- UniProtKB: A6NMV7 (UniProtKB/TrEMBL)
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43613-F1-model_v2 AlphaFold O43613 1-425 view protein structure

Promoters
RGD ID:6854792
Promoter ID:EPDNEW_H561
Type:initiation region
Name:HCRTR1_1
Description:hypocretin receptor 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
GRCh38131,617,698 - 31,617,758EPDNEW
RGD ID:6785203
Promoter ID:HG_KWN:1758
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000373705,   ENST00000373706
Position:
Human AssemblyChrPosition (strand)Source
Build 36131,856,346 - 31,856,846 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4848 AgrOrtholog
COSMIC HCRTR1 COSMIC
Ensembl Genes ENSG00000121764 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000373705 ENTREZGENE
  ENST00000373705.1 UniProtKB/TrEMBL
  ENST00000373706.9 UniProtKB/Swiss-Prot
  ENST00000403528 ENTREZGENE
  ENST00000403528.7 UniProtKB/Swiss-Prot
  ENST00000468521.1 UniProtKB/TrEMBL
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000121764 GTEx
HGNC ID HGNC:4848 ENTREZGENE
Human Proteome Map HCRTR1 Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Orexin_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Orexin_rcpt_1 UniProtKB/Swiss-Prot
KEGG Report hsa:3061 UniProtKB/Swiss-Prot
NCBI Gene 3061 ENTREZGENE
OMIM 602392 OMIM
PANTHER G_PROTEIN_RECEP_F1_2 DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LEUCOKININ RECEPTOR-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29222 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OREXIN1R UniProtKB/Swiss-Prot
  OREXINR 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
SMART 7TM_GPCR_Srsx UniProtKB/Swiss-Prot
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8I5KTU6_HUMAN UniProtKB/TrEMBL
  A6NMV7 ENTREZGENE, UniProtKB/TrEMBL
  A8K3A6 ENTREZGENE
  O43613 ENTREZGENE, UniProtKB/Swiss-Prot
  Q9HBV6 ENTREZGENE
UniProt Secondary A8K3A6 UniProtKB/Swiss-Prot
  Q9HBV6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 HCRTR1  hypocretin receptor 1  HCRTR1  hypocretin (orexin) receptor 1  Symbol and/or name change 5135510 APPROVED