ENSG00000164683


Homo sapiens

Features
Gene ID: ENSG00000164683
  
Biological name :HEY1
  
Synonyms : hes related family bHLH transcription factor with YRPW motif 1 / HEY1 / Q9Y5J3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: q21.13
Gene start: 79764010
Gene end: 79767863
  
Corresponding Affymetrix probe sets: 218839_at (Human Genome U133 Plus 2.0 Array)   44783_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000338272
Ensembl peptide - ENSP00000429792
Ensembl peptide - ENSP00000429705
Ensembl peptide - ENSP00000346761
NCBI entrez gene - 23462     See in Manteia.
OMIM - 602953
RefSeq - NM_001040708
RefSeq - NM_001282851
RefSeq - NM_012258
RefSeq Peptide - NP_001035798
RefSeq Peptide - NP_036390
RefSeq Peptide - NP_001269780
swissprot - Q9Y5J3
swissprot - B4DEI9
swissprot - E5RHK6
Ensembl - ENSG00000164683
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hey1ENSDARG00000070538Danio rerio
 HEY1ENSGALG00000035031Gallus gallus
 Hey1ENSMUSG00000040289Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HEY2 / Q9UBP5 / hes related family bHLH transcription factor with YRPW motif 2ENSG0000013554755
HEYL / Q9NQ87 / hes related family bHLH transcription factor with YRPW motif-likeENSG0000016390943
HELT / A6NFD8 / helt bHLH transcription factorENSG0000018782123


Protein motifs (from Interpro)
Interpro ID Name
 IPR003650  Orange domain
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR036638  Helix-loop-helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0001525 angiogenesis IEP
 biological_processGO:0003184 pulmonary valve morphogenesis ISS
 biological_processGO:0003190 atrioventricular valve formation ISS
 biological_processGO:0003203 endocardial cushion morphogenesis ISS
 biological_processGO:0003208 cardiac ventricle morphogenesis ISS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007219 Notch signaling pathway IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0035912 dorsal aorta morphogenesis ISS
 biological_processGO:0036304 umbilical cord morphogenesis ISS
 biological_processGO:0045746 negative regulation of Notch signaling pathway IDA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISS
 biological_processGO:0060317 cardiac epithelial to mesenchymal transition ISS
 biological_processGO:0060347 heart trabecula formation ISS
 biological_processGO:0060411 cardiac septum morphogenesis ISS
 biological_processGO:0060412 ventricular septum morphogenesis ISS
 biological_processGO:0060716 labyrinthine layer blood vessel development ISS
 biological_processGO:0060842 arterial endothelial cell differentiation ISS
 biological_processGO:0061314 Notch signaling involved in heart development IC
 biological_processGO:0071385 cellular response to glucocorticoid stimulus IEA
 biological_processGO:2000678 negative regulation of transcription regulatory region DNA binding IDA
 biological_processGO:2000820 negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation IDA
 biological_processGO:2001212 regulation of vasculogenesis ISS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm ISS
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding ISS
 molecular_functionGO:0000989 transcription factor activity, transcription factor binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding NAS
 molecular_functionGO:0035939 microsatellite binding IDA
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
NOTCH1 Intracellular Domain Regulates Transcription
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
RUNX2 regulates osteoblast differentiation
NOTCH3 Intracellular Domain Regulates Transcription
NOTCH4 Intracellular Domain Regulates Transcription


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000124813 RUNX2 / Q13950 / runt related transcription factor 2  / reaction / complex






 

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