Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	23462
Gene name Gene Name - the full gene name approved by the HGNC.	Hes related family bHLH transcription factor with YRPW motif 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HEY1
Synonyms (NCBI Gene) Gene synonyms aliases	BHLHb31, CHF2, HERP2, HESR1, HRT-1, NERP2, OAF1, hHRT1
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q21.13
Summary Summary of gene provided in NCBI Entrez Gene.	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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017049	hsa-miR-335-5p	Microarray	18185580
MIRT019763	hsa-miR-375	Microarray	20215506
MIRT046126	hsa-miR-30b-5p	CLASH	23622248
MIRT1044795	hsa-miR-1207-3p	CLIP-seq
MIRT1044796	hsa-miR-132	CLIP-seq
MIRT1044797	hsa-miR-182	CLIP-seq
MIRT1044798	hsa-miR-212	CLIP-seq
MIRT1044799	hsa-miR-455-3p	CLIP-seq
MIRT1044800	hsa-miR-4690-3p	CLIP-seq
MIRT1044801	hsa-miR-4709-5p	CLIP-seq
MIRT1044802	hsa-miR-4781-3p	CLIP-seq
MIRT1044803	hsa-miR-548c-3p	CLIP-seq
MIRT1044804	hsa-miR-599	CLIP-seq
MIRT2009768	hsa-miR-1178	CLIP-seq
MIRT1044795	hsa-miR-1207-3p	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
DUX4	Activation	24278031
JUN	Activation	15314183
MAML1	Repression	18503747
MSX1	Activation	18201699
NR2F2	Unknown	23345397

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	16043483, 18239137, 21290414
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	11486045
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	21290414
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IDA	18239137
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	18239137
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0001525	Process	Angiogenesis	IEP	11866539
GO:0003161	Process	Cardiac conduction system development	NAS	26786210
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0003184	Process	Pulmonary valve morphogenesis	ISS
GO:0003190	Process	Atrioventricular valve formation	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003208	Process	Cardiac ventricle morphogenesis	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	15485867
GO:0005515	Function	Protein binding	IPI	15485867, 21454491, 32296183, 33961781, 34819669
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007219	Process	Notch signaling pathway	IBA
GO:0007219	Process	Notch signaling pathway	IDA	10964718, 25985737
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	ISS
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IBA
GO:0035912	Process	Dorsal aorta morphogenesis	ISS
GO:0036304	Process	Umbilical cord morphogenesis	ISS
GO:0045665	Process	Negative regulation of neuron differentiation	IBA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IDA	18239137
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	15485867
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0050767	Process	Regulation of neurogenesis	IBA
GO:0051151	Process	Negative regulation of smooth muscle cell differentiation	IDA	18239137
GO:0060317	Process	Cardiac epithelial to mesenchymal transition	ISS
GO:0060347	Process	Heart trabecula formation	ISS
GO:0060411	Process	Cardiac septum morphogenesis	ISS
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0060716	Process	Labyrinthine layer blood vessel development	ISS
GO:0060842	Process	Arterial endothelial cell differentiation	ISS
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	10692439
GO:0070168	Process	Negative regulation of biomineral tissue development	ISS
GO:0072359	Process	Circulatory system development	IBA
GO:0072359	Process	Circulatory system development	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2001212	Process	Regulation of vasculogenesis	ISS

MIM	HGNC	e!Ensembl
602953	4880	ENSG00000164683

Protein

UniProt ID

Q9Y5J3

Protein name

Hairy/enhancer-of-split related with YRPW motif protein 1 (Cardiovascular helix-loop-helix factor 2) (CHF-2) (Class B basic helix-loop-helix protein 31) (bHLHb31) (HES-related repressor protein 1) (Hairy and enhancer of split-related protein 1) (HESR-1) (

Protein function

Transcriptional repressor which binds preferentially to the canonical E box sequence 5'-CACGTG-3' (PubMed:11095750). Downstream effector of Notch signaling required for cardiovascular development. Specifically required for the Notch-induced endo

PDB

2DB7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	50 → 105	Helix-loop-helix DNA-binding domain	Domain
PF07527	Hairy_orange	121 → 163	Hairy Orange	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the somitic mesoderm, the central nervous system, the kidney, the heart, nasal epithelium, and limbs.

Sequence

MKRAHPEYSSSDSELDETIEVEKESADENGNLSSALGSMSPTTSSQILARKRRRGIIEKR
RRDRINNSLSELRRLVPSAFEKQGSAKLEKAEILQMTVDHLKMLHTAGGKGYFDAHALAM
DYRSLGFRECLAEVARYLSIIEGLDASDPLRVRLVSHLNNYASQREAASGAHAGLGHIPW
GTVFGHHPHIAHPLLLPQNGHGNAGTTASPTEPHHQGRLGSAHPEAPALRAPPSGSLGPV
LPVVTSASKLSPPLLSSVASLSAFPFSFGSFHLLSPNALSPSAPTQAANLGKPYRPWGTE
IGAF

Sequence length

304

Interactions

View interactions

	KEGG		Reactome
	Notch signaling pathway Human papillomavirus infection Pathways in cancer Breast cancer		Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants NOTCH4 Intracellular Domain Regulates Transcription

HEY1 (hes related family bHLH transcription factor with YRPW motif 1)