• Gene id: 23462

Gene Summary

• Gene Symbol: HEY1   Gene   UCSC   Ensembl
• Aliases: BHLHb31, CHF2, HERP2, HESR1, HRT-1, NERP2, 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
• OMIM: 609436

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: 32613
  • 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: (49..10-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (122..15-)
    (/note="Orange-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00380"-)
  • Interpro: IPR011598  IPR036638  IPR003650  
  • Prosite: PS50888 PS51054
  • CDD: cd00083
  • PDB: 2DB7
  • PDBsum: 2DB7
  • STRING: ENSP00000338272
• Other Databases: GeneCards:  HEY1  Malacards:  HEY1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045665	negative regulation of neuron differentiation	IBA	biological process
GO:0050767	regulation of neurogenesis	IBA	biological process
GO:0072359	circulatory system development	IBA	biological process
GO:0007219	Notch signaling pathway	IBA	biological process
GO:0009952	anterior/posterior pattern specification	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0007219	Notch signaling pathway	IDA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0070168	negative regulation of biomineral tissue development	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045746	negative regulation of Notch signaling pathway	IDA	biological process
GO:2000678	negative regulation of transcription regulatory region DNA binding	IDA	biological process
GO:2000820	negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation	IDA	biological process
GO:0003208	cardiac ventricle morphogenesis	ISS	biological process
GO:0060317	cardiac epithelial to mesenchymal transition	ISS	biological process
GO:0060716	labyrinthine layer blood vessel development	ISS	biological process
GO:0060842	arterial endothelial cell differentiation	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0061314	Notch signaling involved in heart development	IC	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0003184	pulmonary valve morphogenesis	ISS	biological process
GO:0003190	atrioventricular valve formation	ISS	biological process
GO:0003203	endocardial cushion morphogenesis	ISS	biological process
GO:0035912	dorsal aorta morphogenesis	ISS	biological process
GO:0036304	umbilical cord morphogenesis	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0060347	heart trabecula formation	ISS	biological process
GO:0060411	cardiac septum morphogenesis	ISS	biological process
GO:0060412	ventricular septum morphogenesis	ISS	biological process
GO:2001212	regulation of vasculogenesis	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007219	Notch signaling pathway	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0001525	angiogenesis	IEP	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS	molecular function
GO:0008134	transcription factor binding	NAS	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05165	Human papillomavirus infection
hsa05224	Breast cancer
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881