Homo sapiens Gene: HEY1
Summary
InnateDB Gene IDBG-26239.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HEY1
Gene Name hairy/enhancer-of-split related with YRPW motif 1
Synonyms BHLHb31; CHF2; HERP2; HESR1; hHRT1; HRT-1; OAF1
Species Homo sapiens
Ensembl Gene ENSG00000164683
Encoded Proteins
hairy/enhancer-of-split related with YRPW motif 1
hairy/enhancer-of-split related with YRPW motif 1
hairy/enhancer-of-split related with YRPW motif 1
hairy/enhancer-of-split related with YRPW motif 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:79764010-79767863
Strand Reverse strand
Band q21.13
Transcripts
ENST00000337919 ENSP00000338272
ENST00000354724 ENSP00000346761
ENST00000435063
ENST00000523976 ENSP00000429792
ENST00000518733 ENSP00000429705
ENST00000521111
ENST00000519075
ENST00000523531
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 19 [view]
Protein-Protein 17 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000983 RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity
GO:0000988 protein binding transcription factor activity
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0035939 microsatellite binding
GO:0043565 sequence-specific DNA binding
GO:0046983 protein dimerization activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001525 angiogenesis
GO:0001568 blood vessel development
GO:0001570 vasculogenesis
GO:0002076 osteoblast development
GO:0003184 pulmonary valve morphogenesis
GO:0003190 atrioventricular valve formation
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0003199 endocardial cushion to mesenchymal transition involved in heart valve formation
GO:0003203 endocardial cushion morphogenesis
GO:0003208 cardiac ventricle morphogenesis
GO:0003222 ventricular trabecula myocardium morphogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007219 Notch signaling pathway
GO:0009948 anterior/posterior axis specification
GO:0010629 negative regulation of gene expression
GO:0035912 dorsal aorta morphogenesis
GO:0036304 umbilical cord morphogenesis
GO:0045669 positive regulation of osteoblast differentiation
GO:0045746 negative regulation of Notch signaling pathway
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060317 cardiac epithelial to mesenchymal transition
GO:0060347 heart trabecula formation
GO:0060411 cardiac septum morphogenesis
GO:0060412 ventricular septum morphogenesis
GO:0060716 labyrinthine layer blood vessel development
GO:0060840 artery development
GO:0060842 arterial endothelial cell differentiation
GO:0061314 Notch signaling involved in heart development
GO:0071385 cellular response to glucocorticoid stimulus
GO:2000678 negative regulation of transcription regulatory region DNA binding
GO:2000820 negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation
GO:2001212 regulation of vasculogenesis
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
NOTCH1 Intracellular Domain Regulates Transcription pathway
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
Signaling by NOTCH1 in Cancer pathway
FBXW7 Mutants and NOTCH1 in Cancer pathway
Signal Transduction pathway
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
Signaling by NOTCH pathway
Signaling by NOTCH1 pathway
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
Disease pathway
KEGG
INOH
PID NCI
Notch-mediated HES/HEY network
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.234434 Hs.600989
RefSeq NM_001040708 NM_001282851 NM_012258
HUGO
OMIM
CCDS CCDS43749 CCDS6225 CCDS64915
HPRD 04260
IMGT
EMBL
GenPept
RNA Seq Atlas