Endometriosis Knowledgebase

Search Result

Gene id

23462

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

HEY1 Gene UCSC Ensembl

Aliases

BHLHb31, CHF2, HERP2, HESR1, HRT-1, OAF1, hHRT1

Gene name

hes related family bHLH transcription factor with YRPW motif 1

Alternate names

hairy/enhancer-of-split related with YRPW motif protein 1, HES-related repressor protein 1, HES-related repressor protein 2, basic helix-loop-helix protein OAF1, cardiovascular helix-loop-helix factor 2, class B basic helix-loop-helix protein 31, hairy and enha,

Gene location

8q21.13 (79767862: 79764009) Exons: 6 NC_000008.11

Gene summary(Entrez)

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]

OMIM

602953

Protein Summary

Protein general information

Q9Y5J3

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) (

Length: 304 Mass: 32,613

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

Sequence

MKRAHPEYSSSDSELDETIEVEKESADENGNLSSALGSMSPTTSSQILARKRRRGIIEKRRRDRINNSLSELRRL
VPSAFEKQGSAKLEKAEILQMTVDHLKMLHTAGGKGYFDAHALAMDYRSLGFRECLAEVARYLSIIEGLDASDPL
RVRLVSHLNNYASQREAASGAHAGLGHIPWGTVFGHHPHIAHPLLLPQNGHGNAGTTASPTEPHHQGRLGSAHPE
APALRAPPSGSLGPVLPVVTSASKLSPPLLSSVASLSAFPFSFGSFHLLSPNALSPSAPTQAANLGKPYRPWGTE
IGAF

Structural information

Protein Domains	bHLH. (49-104) Orange. (122-158)
Motifs	YRPW motif.(294-297)
Interpro:	IPR011598 IPR003650
Prosite:	PS50888 PS51054
Pfam:	PF07527 PF00010
CDD:	cd00083
PDB:	2DB7
PDBsum:	2DB7
MINT:	1179634
STRING:	ENSP00000338272;

Other Databases

GeneCards: HEY1; Malacards: HEY1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000983	transcription factor acti vity, RNA polymerase II c ore promoter sequence-spe cific	ISS	molecular_function
GO:0000988	transcription factor acti vity, protein binding	IDA	molecular_function
GO:0001525	angiogenesis	IEP	biological_process
GO:0003184	pulmonary valve morphogen esis	ISS	biological_process
GO:0003190	atrioventricular valve fo rmation	ISS	biological_process
GO:0003198	epithelial to mesenchymal transition involved in e ndocardial cushion format ion	ISS	biological_process
GO:0003203	endocardial cushion morph ogenesis	ISS	biological_process
GO:0003208	cardiac ventricle morphog enesis	ISS	biological_process
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	ISS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	ISS	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0007219	Notch signaling pathway	IDA	biological_process
GO:0007219	Notch signaling pathway	IDA	biological_process
GO:0008134	transcription factor bind ing	NAS	molecular_function
GO:0035912	dorsal aorta morphogenesi s	ISS	biological_process
GO:0035939	microsatellite binding	IDA	molecular_function
GO:0036304	umbilical cord morphogene sis	ISS	biological_process
GO:0045746	negative regulation of No tch signaling pathway	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0046983	protein dimerization acti vity	IEA	molecular_function
GO:0060317	cardiac epithelial to mes enchymal transition	ISS	biological_process
GO:0060347	heart trabecula formation	ISS	biological_process
GO:0060411	cardiac septum morphogene sis	ISS	biological_process
GO:0060412	ventricular septum morpho genesis	ISS	biological_process
GO:0060716	labyrinthine layer blood vessel development	ISS	biological_process
GO:0060842	arterial endothelial cell differentiation	ISS	biological_process
GO:0061314	Notch signaling involved in heart development	IC	biological_process
GO:0071385	cellular response to gluc ocorticoid stimulus	IEA	biological_process
GO:2000678	negative regulation of tr anscription regulatory re gion DNA binding	IDA	biological_process
GO:2000820	negative regulation of tr anscription from RNA poly merase II promoter involv ed in smooth muscle cell differentiation	IDA	biological_process
GO:2001212	regulation of vasculogene sis	ISS	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000983	transcription factor acti vity, RNA polymerase II c ore promoter sequence-spe cific	ISS	molecular_function
GO:0000988	transcription factor acti vity, protein binding	IDA	molecular_function
GO:0001525	angiogenesis	IEP	biological_process
GO:0003184	pulmonary valve morphogen esis	ISS	biological_process
GO:0003190	atrioventricular valve fo rmation	ISS	biological_process
GO:0003198	epithelial to mesenchymal transition involved in e ndocardial cushion format ion	ISS	biological_process
GO:0003203	endocardial cushion morph ogenesis	ISS	biological_process
GO:0003208	cardiac ventricle morphog enesis	ISS	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	ISS	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	ISS	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0007219	Notch signaling pathway	IEA	biological_process
GO:0007219	Notch signaling pathway	IEA	biological_process
GO:0007219	Notch signaling pathway	IDA	biological_process
GO:0007219	Notch signaling pathway	IDA	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0008134	transcription factor bind ing	NAS	molecular_function
GO:0035912	dorsal aorta morphogenesi s	ISS	biological_process
GO:0035939	microsatellite binding	IDA	molecular_function
GO:0036304	umbilical cord morphogene sis	ISS	biological_process
GO:0045746	negative regulation of No tch signaling pathway	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0046983	protein dimerization acti vity	IEA	molecular_function
GO:0060317	cardiac epithelial to mes enchymal transition	ISS	biological_process
GO:0060347	heart trabecula formation	ISS	biological_process
GO:0060411	cardiac septum morphogene sis	ISS	biological_process
GO:0060412	ventricular septum morpho genesis	ISS	biological_process
GO:0060716	labyrinthine layer blood vessel development	ISS	biological_process
GO:0060842	arterial endothelial cell differentiation	ISS	biological_process
GO:0061314	Notch signaling involved in heart development	IC	biological_process
GO:0071385	cellular response to gluc ocorticoid stimulus	IEA	biological_process
GO:2000678	negative regulation of tr anscription regulatory re gion DNA binding	IDA	biological_process
GO:2000820	negative regulation of tr anscription from RNA poly merase II promoter involv ed in smooth muscle cell differentiation	IDA	biological_process
GO:2001212	regulation of vasculogene sis	ISS	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000983	transcription factor acti vity, RNA polymerase II c ore promoter sequence-spe cific	ISS	molecular_function
GO:0000988	transcription factor acti vity, protein binding	IDA	molecular_function
GO:0001525	angiogenesis	IEP	biological_process
GO:0003184	pulmonary valve morphogen esis	ISS	biological_process
GO:0003190	atrioventricular valve fo rmation	ISS	biological_process
GO:0003198	epithelial to mesenchymal transition involved in e ndocardial cushion format ion	ISS	biological_process
GO:0003203	endocardial cushion morph ogenesis	ISS	biological_process
GO:0003208	cardiac ventricle morphog enesis	ISS	biological_process
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	ISS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005737	cytoplasm	ISS	cellular_component
GO:0007219	Notch signaling pathway	IDA	biological_process
GO:0007219	Notch signaling pathway	IDA	biological_process
GO:0008134	transcription factor bind ing	NAS	molecular_function
GO:0035912	dorsal aorta morphogenesi s	ISS	biological_process
GO:0035939	microsatellite binding	IDA	molecular_function
GO:0036304	umbilical cord morphogene sis	ISS	biological_process
GO:0045746	negative regulation of No tch signaling pathway	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0060317	cardiac epithelial to mes enchymal transition	ISS	biological_process
GO:0060347	heart trabecula formation	ISS	biological_process
GO:0060411	cardiac septum morphogene sis	ISS	biological_process
GO:0060412	ventricular septum morpho genesis	ISS	biological_process
GO:0060716	labyrinthine layer blood vessel development	ISS	biological_process
GO:0060842	arterial endothelial cell differentiation	ISS	biological_process
GO:0061314	Notch signaling involved in heart development	IC	biological_process
GO:2000678	negative regulation of tr anscription regulatory re gion DNA binding	IDA	biological_process
GO:2000820	negative regulation of tr anscription from RNA poly merase II promoter involv ed in smooth muscle cell differentiation	IDA	biological_process
GO:2001212	regulation of vasculogene sis	ISS	biological_process

KEGG pathways

hsa05224 Breast cancer

Diseases

Associated diseases	References
Endometriosis	PMID: 25546156
Endometriosis	INFBASE25546156

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25546156	Endometrio sis				Female infertility	NOTCH1 NOTCH4 JAGGED2 DLL4 HES5 HEY1	Show abstract