HEY1 (hes related family bHLH transcription factor with YRPW motif 1) - Rat Genome Database

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Gene: HEY1 (hes related family bHLH transcription factor with YRPW motif 1) Homo sapiens
Analyze
Symbol: HEY1
Name: hes related family bHLH transcription factor with YRPW motif 1
RGD ID: 735762
HGNC Page HGNC
Description: Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in several processes, including negative regulation of Notch signaling pathway; negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation; and negative regulation of transcription regulatory region DNA binding activity. Predicted to localize to chromatin; cytoplasm; and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: basic helix-loop-helix protein OAF1; BHLHb31; cardiovascular helix-loop-helix factor 2; CHF2; class B basic helix-loop-helix protein 31; hairy and enhancer of split-related protein 1; hairy-related transcription factor 1; hairy/enhancer-of-split related with YRPW motif 1; hairy/enhancer-of-split related with YRPW motif protein 1; HERP2; hes-related family bHLH transcription factor with YRPW motif 1; HES-related repressor protein 1; HES-related repressor protein 2; HESR1; hHRT1; HRT-1; MGC1274; NERP2; OAF1
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
GRCh38.p13 Ensembl879,762,371 - 79,767,857 (-)EnsemblGRCh38hg38GRCh38
GRCh38879,764,010 - 79,767,767 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37880,676,245 - 80,680,002 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36880,838,800 - 80,842,653 (-)NCBINCBI36hg18NCBI36
Build 34880,838,800 - 80,842,559NCBI
Celera876,680,512 - 76,684,366 (-)NCBI
Cytogenetic Map8q21.13NCBI
HuRef876,165,779 - 76,169,632 (-)NCBIHuRef
CHM1_1880,728,484 - 80,732,338 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
azathioprine  (EXP)
baicalein  (EXP)
baicalin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
butyric acid  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
cytarabine  (EXP)
DAPT  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dipentyl phthalate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
entinostat  (EXP)
ethanol  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
L-methionine  (ISO)
leflunomide  (EXP)
manganese(II) chloride  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (ISO)
mitomycin C  (EXP)
nickel atom  (ISO)
niclosamide  (EXP,ISO)
nicotine  (EXP)
ouabain  (EXP)
oxaliplatin  (EXP,ISO)
ozone  (ISO)
Paeonol  (ISO)
paracetamol  (ISO)
pirinixic acid  (ISO)
propanal  (EXP)
pyrvinium  (EXP)
quercetin  (ISO)
quinolin-8-ol  (EXP)
rifampicin  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
tacedinaline  (EXP)
thapsigargin  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
tunicamycin  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IEP)
anterior/posterior axis specification  (ISO)
anterior/posterior pattern specification  (IBA)
aortic valve morphogenesis  (ISS)
arterial endothelial cell differentiation  (ISS)
artery development  (ISO)
atrioventricular valve formation  (ISS)
atrioventricular valve morphogenesis  (ISO)
blood vessel development  (ISO)
cardiac conduction system development  (NAS)
cardiac epithelial to mesenchymal transition  (ISS)
cardiac septum morphogenesis  (ISS)
cardiac ventricle morphogenesis  (ISS)
cellular response to glucocorticoid stimulus  (IEA,ISO)
circulatory system development  (IBA)
comma-shaped body morphogenesis  (ISO)
dorsal aorta morphogenesis  (ISS)
endocardial cushion morphogenesis  (ISS)
endocardial cushion to mesenchymal transition involved in heart valve formation  (ISO)
epithelial to mesenchymal transition involved in endocardial cushion formation  (ISO)
establishment of epithelial cell polarity  (ISO)
heart trabecula formation  (ISS)
inner ear receptor cell stereocilium organization  (ISO)
labyrinthine layer blood vessel development  (ISS)
mesenchymal cell development  (ISO)
negative regulation of biomineral tissue development  (ISS)
negative regulation of gene expression  (ISO)
negative regulation of neuron differentiation  (IBA)
negative regulation of Notch signaling pathway  (IDA)
negative regulation of transcription by RNA polymerase II  (IDA,IMP)
negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation  (IDA)
negative regulation of transcription regulatory region DNA binding  (IDA)
negative regulation of transcription, DNA-templated  (IDA)
Notch signaling involved in heart development  (IC)
Notch signaling pathway  (IBA,IDA,ISO)
osteoblast development  (ISO)
outflow tract morphogenesis  (ISO)
positive regulation of gene expression  (ISS)
positive regulation of osteoblast differentiation  (ISO)
positive regulation of transcription by RNA polymerase II  (ISS)
positive regulation of transcription, DNA-templated  (TAS)
pulmonary valve morphogenesis  (ISS)
regulation of epithelial cell proliferation  (ISO)
regulation of inner ear auditory receptor cell differentiation  (ISO)
regulation of neurogenesis  (IBA)
regulation of transcription by RNA polymerase II  (IBA)
regulation of transcription, DNA-templated  (IEA)
regulation of vasculogenesis  (ISS)
renal vesicle development  (ISO)
S-shaped body morphogenesis  (ISO)
umbilical cord morphogenesis  (ISS)
ureteric bud morphogenesis  (ISO)
vasculogenesis  (ISO)
ventricular septum morphogenesis  (ISS)
ventricular trabecula myocardium morphogenesis  (ISO)

Cellular Component
chromatin  (ISA)
cytoplasm  (ISS)
nucleoplasm  (TAS)
nucleus  (IBA,ISO,ISS)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8125298   PMID:10403790   PMID:10415358   PMID:10692439   PMID:10860664   PMID:10964718   PMID:11095750   PMID:11279181   PMID:11486044   PMID:11486045   PMID:11585921   PMID:11866539  
PMID:12453432   PMID:12477932   PMID:14702039   PMID:15231748   PMID:15314183   PMID:15342556   PMID:15485867   PMID:15489334   PMID:15680351   PMID:15684393   PMID:15749835   PMID:16043483  
PMID:16165016   PMID:16344560   PMID:17028039   PMID:17259303   PMID:17496152   PMID:17611704   PMID:18239137   PMID:18363832   PMID:18986983   PMID:19274049   PMID:19321451   PMID:19322201  
PMID:19369342   PMID:19453261   PMID:19802006   PMID:19857617   PMID:19917614   PMID:21290414   PMID:21454491   PMID:21873635   PMID:22034177   PMID:22036964   PMID:22983008   PMID:23226563  
PMID:23252872   PMID:23379739   PMID:23900217   PMID:24034695   PMID:24124145   PMID:24366871   PMID:24487962   PMID:24684754   PMID:25361534   PMID:25742474   PMID:25799559   PMID:25985737  
PMID:26068074   PMID:26186194   PMID:26582913   PMID:26786210   PMID:27129302   PMID:27134167   PMID:27544802   PMID:28473536   PMID:28514442   PMID:29146722   PMID:29596896   PMID:29909892  
PMID:30195713   PMID:30565566   PMID:32293074   PMID:32296183   PMID:32417395   PMID:32712748  


Genomics

Comparative Map Data
HEY1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl879,762,371 - 79,767,857 (-)EnsemblGRCh38hg38GRCh38
GRCh38879,764,010 - 79,767,767 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37880,676,245 - 80,680,002 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36880,838,800 - 80,842,653 (-)NCBINCBI36hg18NCBI36
Build 34880,838,800 - 80,842,559NCBI
Celera876,680,512 - 76,684,366 (-)NCBI
Cytogenetic Map8q21.13NCBI
HuRef876,165,779 - 76,169,632 (-)NCBIHuRef
CHM1_1880,728,484 - 80,732,338 (-)NCBICHM1_1
Hey1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3938,728,419 - 8,732,098 (-)NCBIGRCm39mm39
GRCm39 Ensembl38,728,419 - 8,732,316 (-)Ensembl
GRCm3838,663,359 - 8,667,038 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl38,663,359 - 8,667,256 (-)EnsemblGRCm38mm10GRCm38
MGSCv3738,663,359 - 8,667,038 (-)NCBIGRCm37mm9NCBIm37
MGSCv3638,646,432 - 8,650,059 (-)NCBImm8
Celera38,666,683 - 8,670,362 (-)NCBICelera
Cytogenetic Map3A1NCBI
cM Map32.15NCBI
Hey1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2293,096,706 - 93,100,316 (+)NCBI
Rnor_6.0 Ensembl295,320,283 - 95,322,696 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0295,320,147 - 95,322,701 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02115,062,450 - 115,064,660 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4295,174,030 - 95,176,430 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1295,119,909 - 95,121,344 (+)NCBI
Celera288,672,179 - 88,674,351 (+)NCBICelera
Cytogenetic Map2q23NCBI
Hey1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554441,498,675 - 1,500,945 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554441,498,444 - 1,502,099 (+)NCBIChiLan1.0ChiLan1.0
HEY1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1877,917,206 - 77,921,062 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl877,913,761 - 77,921,201 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0876,286,433 - 76,290,507 (-)NCBIMhudiblu_PPA_v0panPan3
HEY1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12927,185,191 - 27,188,121 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2927,185,191 - 27,188,121 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2927,458,786 - 27,461,729 (-)NCBI
ROS_Cfam_1.02927,308,721 - 27,311,675 (-)NCBI
UMICH_Zoey_3.12927,354,259 - 27,357,186 (-)NCBI
UNSW_CanFamBas_1.02927,393,148 - 27,396,070 (-)NCBI
UU_Cfam_GSD_1.02927,749,711 - 27,752,657 (-)NCBI
Hey1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530351,893,528 - 51,897,480 (+)NCBI
SpeTri2.0NW_004936871666,961 - 670,910 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HEY1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl456,859,663 - 56,863,789 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1456,859,640 - 56,863,807 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2462,080,177 - 62,084,026 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HEY1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1875,225,081 - 75,228,941 (-)NCBI
ChlSab1.1 Ensembl875,224,769 - 75,228,896 (-)Ensembl
Vero_WHO_p1.0NW_02366603965,971,543 - 65,975,578 (+)NCBI
Hey1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474411,462,865 - 11,466,559 (+)NCBI

Position Markers
HEY1_2154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37880,676,236 - 80,677,067UniSTSGRCh37
Build 36880,838,791 - 80,839,622RGDNCBI36
Celera876,680,503 - 76,681,334RGD
HuRef876,165,770 - 76,166,601UniSTS
RH12790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37880,676,302 - 80,676,465UniSTSGRCh37
Build 36880,838,857 - 80,839,020RGDNCBI36
Celera876,680,569 - 76,680,732RGD
Cytogenetic Map8q21UniSTS
HuRef876,165,836 - 76,165,999UniSTS
GeneMap99-GB4 RH Map8399.46UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2075
Count of miRNA genes:823
Interacting mature miRNAs:955
Transcripts:ENST00000337919, ENST00000354724, ENST00000435063, ENST00000518733, ENST00000519075, ENST00000521111, ENST00000523531, ENST00000523976
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.


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
Medium 544 751 675 115 346 22 2029 819 3362 133 268 1028 93 1103 1286 2
Low 1854 1709 1000 486 918 420 2320 1359 365 274 1169 561 79 1 101 1501 4 2
Below cutoff 38 509 51 23 579 23 6 14 5 12 23 23 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001040708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF176422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF232239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF254637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF311883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ272214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ277506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP283540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT020065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA561783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R61374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000337919   ⟹   ENSP00000338272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl879,764,013 - 79,767,857 (-)Ensembl
RefSeq Acc Id: ENST00000354724   ⟹   ENSP00000346761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl879,764,010 - 79,767,767 (-)Ensembl
RefSeq Acc Id: ENST00000435063
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl879,764,049 - 79,766,497 (-)Ensembl
RefSeq Acc Id: ENST00000518733   ⟹   ENSP00000429705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl879,765,431 - 79,767,472 (-)Ensembl
RefSeq Acc Id: ENST00000519075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl879,764,044 - 79,767,836 (-)Ensembl
RefSeq Acc Id: ENST00000521111
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl879,764,021 - 79,767,820 (-)Ensembl
RefSeq Acc Id: ENST00000523531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl879,764,033 - 79,767,857 (-)Ensembl
RefSeq Acc Id: ENST00000523976   ⟹   ENSP00000429792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl879,764,011 - 79,766,475 (-)Ensembl
RefSeq Acc Id: ENST00000674160   ⟹   ENSP00000501529
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl879,764,033 - 79,767,849 (-)Ensembl
RefSeq Acc Id: ENST00000674177   ⟹   ENSP00000501471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl879,762,371 - 79,767,838 (-)Ensembl
RefSeq Acc Id: ENST00000674192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl879,764,720 - 79,766,475 (-)Ensembl
RefSeq Acc Id: ENST00000674295   ⟹   ENSP00000501320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl879,762,371 - 79,767,462 (-)Ensembl
RefSeq Acc Id: ENST00000674358   ⟹   ENSP00000501370
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl879,764,033 - 79,767,615 (-)Ensembl
RefSeq Acc Id: ENST00000674418   ⟹   ENSP00000501342
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl879,762,371 - 79,767,542 (-)Ensembl
RefSeq Acc Id: ENST00000674439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl879,764,033 - 79,767,615 (-)Ensembl
RefSeq Acc Id: NM_001040708   ⟹   NP_001035798
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38879,764,010 - 79,767,767 (-)NCBI
GRCh37880,676,245 - 80,680,098 (-)ENTREZGENE
Build 36880,838,800 - 80,842,653 (-)NCBI Archive
HuRef876,165,779 - 76,169,632 (-)ENTREZGENE
CHM1_1880,728,484 - 80,732,338 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282851   ⟹   NP_001269780
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38879,764,010 - 79,766,475 (-)NCBI
HuRef876,165,779 - 76,169,632 (-)NCBI
CHM1_1880,728,484 - 80,730,950 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012258   ⟹   NP_036390
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38879,764,010 - 79,767,767 (-)NCBI
GRCh37880,676,245 - 80,680,098 (-)NCBI
Build 36880,838,800 - 80,842,653 (-)NCBI Archive
HuRef876,165,779 - 76,169,632 (-)ENTREZGENE
CHM1_1880,728,484 - 80,732,338 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036390   ⟸   NM_012258
- Peptide Label: isoform a
- UniProtKB: Q9Y5J3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035798   ⟸   NM_001040708
- Peptide Label: isoform b
- UniProtKB: Q9Y5J3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269780   ⟸   NM_001282851
- Peptide Label: isoform c
- UniProtKB: Q9Y5J3 (UniProtKB/Swiss-Prot),   B4DEI9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000501342   ⟸   ENST00000674418
RefSeq Acc Id: ENSP00000501370   ⟸   ENST00000674358
RefSeq Acc Id: ENSP00000501320   ⟸   ENST00000674295
RefSeq Acc Id: ENSP00000501471   ⟸   ENST00000674177
RefSeq Acc Id: ENSP00000501529   ⟸   ENST00000674160
RefSeq Acc Id: ENSP00000429705   ⟸   ENST00000518733
RefSeq Acc Id: ENSP00000338272   ⟸   ENST00000337919
RefSeq Acc Id: ENSP00000429792   ⟸   ENST00000523976
RefSeq Acc Id: ENSP00000346761   ⟸   ENST00000354724
Protein Domains
bHLH   Orange

Promoters
RGD ID:7213589
Promoter ID:EPDNEW_H12540
Type:initiation region
Name:HEY1_1
Description:hes related family bHLH transcription factor with YRPW motif1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12541  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38879,767,767 - 79,767,827EPDNEW
RGD ID:6806796
Promoter ID:HG_KWN:61571
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:UC010LZQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36880,840,791 - 80,842,232 (-)MPROMDB
RGD ID:6806795
Promoter ID:HG_KWN:61572
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001040708,   NM_012258
Position:
Human AssemblyChrPosition (strand)Source
Build 36880,842,436 - 80,843,542 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1 copy number loss See cases [RCV000051117] Chr8:73519300..82655582 [GRCh38]
Chr8:74431535..83567817 [GRCh37]
Chr8:74594089..83730372 [NCBI36]
Chr8:8q21.11-21.13
pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1 copy number loss See cases [RCV000054259] Chr8:73879385..85611466 [GRCh38]
Chr8:74791620..86523695 [GRCh37]
Chr8:74954174..86710947 [NCBI36]
Chr8:8q21.11-21.2
pathogenic
GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 copy number loss See cases [RCV000054261] Chr8:77765431..91839285 [GRCh38]
Chr8:78677666..92851513 [GRCh37]
Chr8:78840221..92920689 [NCBI36]
Chr8:8q21.13-21.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
NM_001040708.1(HEY1):c.562T>A (p.Phe188Ile) single nucleotide variant Malignant melanoma [RCV000068412] Chr8:79765553 [GRCh38]
Chr8:80677788 [GRCh37]
Chr8:80840343 [NCBI36]
Chr8:8q21.13
not provided
NM_001040708.1(HEY1):c.561C>T (p.Val187=) single nucleotide variant Malignant melanoma [RCV000068413] Chr8:79765554 [GRCh38]
Chr8:80677789 [GRCh37]
Chr8:80840344 [NCBI36]
Chr8:8q21.13
not provided
GRCh38/hg38 8q21.13(chr8:74905308-81339951)x1 copy number loss See cases [RCV000133719] Chr8:74905308..81339951 [GRCh38]
Chr8:75817543..82252186 [GRCh37]
Chr8:75980098..82414741 [NCBI36]
Chr8:8q21.13
pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3 copy number gain See cases [RCV000240367] Chr8:70971013..82019151 [GRCh37]
Chr8:8q13.3-21.13
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.11-21.13(chr8:75197438-81685526)x1 copy number loss See cases [RCV000445718] Chr8:75197438..81685526 [GRCh37]
Chr8:8q21.11-21.13
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.11-21.13(chr8:77751515-83516216)x1 copy number loss See cases [RCV000511429] Chr8:77751515..83516216 [GRCh37]
Chr8:8q21.11-21.13
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.13(chr8:80610748-80698854)x1 copy number loss not provided [RCV000682922] Chr8:80610748..80698854 [GRCh37]
Chr8:8q21.13
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4880 AgrOrtholog
COSMIC HEY1 COSMIC
Ensembl Genes ENSG00000164683 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000338272 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000346761 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429705 UniProtKB/TrEMBL
  ENSP00000429792 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000501320 UniProtKB/TrEMBL
  ENSP00000501342 UniProtKB/TrEMBL
  ENSP00000501370 UniProtKB/TrEMBL
  ENSP00000501471 UniProtKB/TrEMBL
  ENSP00000501529 UniProtKB/TrEMBL
Ensembl Transcript ENST00000337919 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000354724 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518733 UniProtKB/TrEMBL
  ENST00000523976 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000674160 UniProtKB/TrEMBL
  ENST00000674177 UniProtKB/TrEMBL
  ENST00000674295 UniProtKB/TrEMBL
  ENST00000674358 UniProtKB/TrEMBL
  ENST00000674418 UniProtKB/TrEMBL
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164683 GTEx
HGNC ID HGNC:4880 ENTREZGENE
Human Proteome Map HEY1 Human Proteome Map
InterPro bHLH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Orange_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23462 UniProtKB/Swiss-Prot
NCBI Gene 23462 ENTREZGENE
OMIM 602953 OMIM
Pfam Hairy_orange UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29258 PharmGKB
PROSITE BHLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ORANGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ORANGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47459 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6I8PIY0_HUMAN UniProtKB/TrEMBL
  A0A6I8PRC2_HUMAN UniProtKB/TrEMBL
  A0A6I8PRS3_HUMAN UniProtKB/TrEMBL
  A0A6I8PU82_HUMAN UniProtKB/TrEMBL
  B4DEI9 ENTREZGENE, UniProtKB/TrEMBL
  E5RHK6_HUMAN UniProtKB/TrEMBL
  HEY1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R883 UniProtKB/Swiss-Prot
  Q5TZS3 UniProtKB/Swiss-Prot
  Q8NAM2 UniProtKB/Swiss-Prot
  Q9NYP4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 HEY1  hes related family bHLH transcription factor with YRPW motif 1  HEY1  hes-related family bHLH transcription factor with YRPW motif 1  Symbol and/or name change 5135510 APPROVED
2013-10-22 HEY1  hes-related family bHLH transcription factor with YRPW motif 1  HEY1  hairy/enhancer-of-split related with YRPW motif 1  Symbol and/or name change 5135510 APPROVED