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) Canis lupus familiaris
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Symbol: HEY1
Name: hes related family bHLH transcription factor with YRPW motif 1
RGD ID: 12278308
Description: ENCODES a protein that exhibits identical protein binding (ortholog); sequence-specific DNA binding (ortholog); INVOLVED IN anterior/posterior axis specification (ortholog); aortic valve morphogenesis (ortholog); arterial endothelial cell differentiation (ortholog); PARTICIPATES IN altered Notch signaling pathway; altered Notch signaling pathway involving promoters; Notch signaling pathway; ASSOCIATED WITH amyotrophic lateral sclerosis (ortholog); atherosclerosis (ortholog); autism spectrum disorder (ortholog); FOUND IN cytoplasm (ortholog)
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: bHLH protein Hesr-1/Hey1; hairy and enhancer of split-related protein 1; hairy/enhancer-of-split related with YRPW motif 1; hairy/enhancer-of-split related with YRPW motif protein 1; HERP1; HESR-1; HESR1
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: CanFam3.1 - Dog CanFam3.1 Assembly
Position:
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02927,308,721 - 27,311,675 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2927,307,758 - 27,311,736 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12927,354,259 - 27,357,186 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02927,393,148 - 27,396,070 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02927,749,711 - 27,752,657 (-)NCBIUU_Cfam_GSD_1.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

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

Cellular Component
cytoplasm  (ISO)
nucleus  (IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:10964405   PMID:22301074   PMID:25403511   PMID:30032202  


Genomics

Comparative Map Data
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02927,308,721 - 27,311,675 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2927,307,758 - 27,311,736 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12927,354,259 - 27,357,186 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02927,393,148 - 27,396,070 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02927,749,711 - 27,752,657 (-)NCBIUU_Cfam_GSD_1.0
HEY1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38879,764,010 - 79,767,767 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl879,762,371 - 79,767,857 (-)EnsemblGRCh38hg38GRCh38
GRCh37880,676,245 - 80,680,002 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36880,838,800 - 80,842,653 (-)NCBINCBI36Build 36hg18NCBI36
Build 34880,838,800 - 80,842,559NCBI
Celera876,680,512 - 76,684,366 (-)NCBICelera
Cytogenetic Map8q21.13NCBI
HuRef876,165,779 - 76,169,632 (-)NCBIHuRef
CHM1_1880,728,484 - 80,732,338 (-)NCBICHM1_1
T2T-CHM13v2.0880,195,346 - 80,199,104 (-)NCBIT2T-CHM13v2.0
Hey1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3938,728,419 - 8,732,098 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl38,728,419 - 8,732,316 (-)EnsemblGRCm39 Ensembl
GRCm3838,663,359 - 8,667,038 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl38,663,359 - 8,667,256 (-)EnsemblGRCm38mm10GRCm38
MGSCv3738,663,359 - 8,667,038 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3638,646,432 - 8,650,059 (-)NCBIMGSCv36mm8
Celera38,666,683 - 8,670,362 (-)NCBICelera
Cytogenetic Map3A1NCBI
cM Map32.15NCBI
Hey1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8295,003,935 - 95,006,457 (+)NCBIGRCr8
mRatBN7.2293,096,605 - 93,100,316 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl293,095,498 - 93,100,312 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx299,620,837 - 99,623,361 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0297,741,864 - 97,744,388 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0292,798,743 - 92,801,267 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0295,320,147 - 95,322,701 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl295,320,283 - 95,322,696 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02115,062,450 - 115,064,660 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4295,174,030 - 95,176,430 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v2795,499,395 - 95,503,305 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1871,129,371 - 71,133,453 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0876,286,433 - 76,290,507 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1877,917,206 - 77,921,062 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl877,913,761 - 77,921,201 (-)Ensemblpanpan1.1panPan2
Hey1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530351,893,528 - 51,897,480 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936871666,938 - 670,916 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 - 56,863,788 (+)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1875,225,081 - 75,228,941 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl875,224,769 - 75,228,896 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603965,971,543 - 65,975,578 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hey1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474411,462,847 - 11,467,870 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474411,462,865 - 11,466,559 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HEY1
108 total Variants

Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
reproductive system
respiratory system
6 5 5 23 22 16 6 6 6 6 33 22 12 14 10

Sequence


Ensembl Acc Id: ENSCAFT00000013332   ⟹   ENSCAFP00000012336
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.1 Ensembl2927,185,191 - 27,188,121 (-)Ensembl
Ensembl Acc Id: ENSCAFT00845052586   ⟹   ENSCAFP00845041270
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
ROS_Cfam_1.0 Ensembl2927,307,758 - 27,311,736 (-)Ensembl
RefSeq Acc Id: NM_001002953   ⟹   NP_001002953
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Dog AssemblyChrPosition (strand)Source
CanFam3.12927,185,191 - 27,188,121 (-)NCBI
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
Sequence:
Protein Sequences
Protein RefSeqs NP_001002953 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein CAB65543 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSCAFP00000012336.5
  ENSCAFP00030019729.1
  ENSCAFP00040030257.1
  ENSCAFP00845041270
  ENSCAFP00845041270.1
GenBank Protein Q9TSZ2 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001002953   ⟸   NM_001002953
- UniProtKB: Q9TSZ2 (UniProtKB/Swiss-Prot),   A0A8C0L2N7 (UniProtKB/TrEMBL),   A0A8C0Z1N3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSCAFP00000012336   ⟸   ENSCAFT00000013332
Ensembl Acc Id: ENSCAFP00845041270   ⟸   ENSCAFT00845052586
Protein Domains
bHLH   Orange


Additional Information

Database Acc Id Source(s)
Ensembl Genes ENSCAFG00000008391 Ensembl, UniProtKB/Swiss-Prot
  ENSCAFG00030012192 UniProtKB/Swiss-Prot
  ENSCAFG00040018750 UniProtKB/TrEMBL
  ENSCAFG00845029695 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSCAFT00000013332.5 UniProtKB/Swiss-Prot
  ENSCAFT00030022614.1 UniProtKB/Swiss-Prot
  ENSCAFT00040034748.1 UniProtKB/TrEMBL
  ENSCAFT00845052586 ENTREZGENE
  ENSCAFT00845052586.1 UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot
  6.10.250.980 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helix-loop-helix DNA-binding domain UniProtKB/TrEMBL
InterPro bHLH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HES_HEY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Orange_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report cfa:403420 UniProtKB/Swiss-Prot
NCBI Gene HEY1 ENTREZGENE
PANTHER BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR, HES-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAIRY/ENHANCER-OF-SPLIT RELATED WITH YRPW MOTIF PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hairy_orange UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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 HLH, helix-loop-helix DNA-binding domain UniProtKB/TrEMBL
  Orange domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47459 UniProtKB/Swiss-Prot
UniProt A0A8C0L2N7 ENTREZGENE
  A0A8C0Z1N3 ENTREZGENE, UniProtKB/TrEMBL
  HEY1_CANLF UniProtKB/Swiss-Prot, ENTREZGENE
VGNC ID VGNC:54114 ENTREZGENE