• Gene id: 3280

Gene Summary

• Gene Symbol: HES1   Gene   UCSC   Ensembl
• Aliases: HES-1, HHL, HRY, bHLHb39
• Gene name: hes family bHLH transcription factor 1
• Alternate names: transcription factor HES-1, class B basic helix-loop-helix protein 39, hairy homolog, hairy-like protein,
• Gene location: 3q29 (38801431: 38806531)     Exons: 3     NC_000023.11
• Gene summary(Entrez): This protein belongs to the basic helix-loop-helix family of transcription factors. It is a transcriptional repressor of genes that require a bHLH protein for their transcription. The protein has a particular type of basic domain that contains a helix int
• OMIM: 139605

Protein Summary

• Protein general information: Q14469  
  • Name: Transcription factor HES 1 (Class B basic helix loop helix protein 39) (bHLHb39) (Hairy and enhancer of split 1) (Hairy homolog) (Hairy like protein) (hHL)
  • Length: 280  
  • Mass: 29541
• Sequence:

  MPADIMEKNSSSPVAATPASVNTTPDKPKTASEHRKSSKPIMEKRRRARINESLSQLKTLILDALKKDSSRHSKL
  EKADILEMTVKHLRNLQRAQMTAALSTDPSVLGKYRAGFSECMNEVTRFLSTCEGVNTEVRTRLLGHLANCMTQI
  NAMTYPGQPHPALQAPPPPPPGPGGPQHAPFAPPPPLVPIPGGAAPPPGGAPCKLGSQAGEAAKVFGGFQVVPAP
  DGQFAFLIPNGAFAHSGPVIPVYTSNSGTSVGPNAVSPSSGPSLTADSMWRPWRN

• Structural information:
  • Protein Domains: (34..9-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (110..14-)
    (/note="Orange-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00380"-)
  • Interpro: IPR011598  IPR036638  IPR003650  
  • Prosite: PS50888 PS51054
  • CDD: cd00083
  • PDB: 2MH3
  • PDBsum: 2MH3
  • STRING: ENSP00000232424
• Other Databases: GeneCards:  HES1  Malacards:  HES1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001085	RNA polymerase II transcription factor binding	ISS	molecular function
GO:0071820	N-box binding	ISS	molecular function
GO:0070888	E-box binding	ISS	molecular function
GO:0043433	negative regulation of DNA-binding transcription factor activity	ISS	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
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:0071820	N-box binding	IBA	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:0070888	E-box binding	IBA	molecular function
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:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0007399	nervous system development	TAS	biological process
GO:0005654	nucleoplasm	TAS	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:2000227	negative regulation of pancreatic A cell differentiation	IEA	biological process
GO:0090162	establishment of epithelial cell polarity	IEA	biological process
GO:0072049	comma-shaped body morphogenesis	IEA	biological process
GO:0071820	N-box binding	IEA	molecular function
GO:0061626	pharyngeal arch artery morphogenesis	IEA	biological process
GO:0061309	cardiac neural crest cell development involved in outflow tract morphogenesis	IEA	biological process
GO:0061106	negative regulation of stomach neuroendocrine cell differentiation	IEA	biological process
GO:0061009	common bile duct development	IEA	biological process
GO:0060716	labyrinthine layer blood vessel development	IEA	biological process
GO:0060164	regulation of timing of neuron differentiation	IEA	biological process
GO:0060122	inner ear receptor cell stereocilium organization	IEA	biological process
GO:0050678	regulation of epithelial cell proliferation	IEA	biological process
GO:0048715	negative regulation of oligodendrocyte differentiation	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045747	positive regulation of Notch signaling pathway	IEA	biological process
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0045165	cell fate commitment	IEA	biological process
GO:0043388	positive regulation of DNA binding	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0032991	protein-containing complex	IEA	cellular component
GO:0030513	positive regulation of BMP signaling pathway	IEA	biological process
GO:0021983	pituitary gland development	IEA	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0021575	hindbrain morphogenesis	IEA	biological process
GO:0021557	oculomotor nerve development	IEA	biological process
GO:0021537	telencephalon development	IEA	biological process
GO:0016477	cell migration	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001217	DNA-binding transcription repressor activity	IEA	molecular function
GO:2000981	negative regulation of inner ear receptor cell differentiation	IEA	biological process
GO:1905934	negative regulation of cell fate determination	IEA	biological process
GO:0097150	neuronal stem cell population maintenance	IEA	biological process
GO:0097084	vascular smooth muscle cell development	IEA	biological process
GO:0090102	cochlea development	IEA	biological process
GO:0072282	metanephric nephron tubule morphogenesis	IEA	biological process
GO:0072141	renal interstitial fibroblast development	IEA	biological process
GO:0072050	S-shaped body morphogenesis	IEA	biological process
GO:0072012	glomerulus vasculature development	IEA	biological process
GO:0065003	protein-containing complex assembly	IEA	biological process
GO:0060675	ureteric bud morphogenesis	IEA	biological process
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0060253	negative regulation of glial cell proliferation	IEA	biological process
GO:0051087	chaperone binding	IEA	molecular function
GO:0050767	regulation of neurogenesis	IEA	biological process
GO:0048844	artery morphogenesis	IEA	biological process
GO:0048711	positive regulation of astrocyte differentiation	IEA	biological process
GO:0048667	cell morphogenesis involved in neuron differentiation	IEA	biological process
GO:0048505	regulation of timing of cell differentiation	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0046427	positive regulation of receptor signaling pathway via JAK-STAT	IEA	biological process
GO:0046425	regulation of receptor signaling pathway via JAK-STAT	IEA	biological process
GO:0046331	lateral inhibition	IEA	biological process
GO:0045977	positive regulation of mitotic cell cycle, embryonic	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0045608	negative regulation of inner ear auditory receptor cell differentiation	IEA	biological process
GO:0045598	regulation of fat cell differentiation	IEA	biological process
GO:0043398	HLH domain binding	IEA	molecular function
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	IEA	biological process
GO:0042102	positive regulation of T cell proliferation	IEA	biological process
GO:0035910	ascending aorta morphogenesis	IEA	biological process
GO:0035909	aorta morphogenesis	IEA	biological process
GO:0035019	somatic stem cell population maintenance	IEA	biological process
GO:0031016	pancreas development	IEA	biological process
GO:0030901	midbrain development	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0021984	adenohypophysis development	IEA	biological process
GO:0021558	trochlear nerve development	IEA	biological process
GO:0021555	midbrain-hindbrain boundary morphogenesis	IEA	biological process
GO:0007389	pattern specification process	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003281	ventricular septum development	IEA	biological process
GO:0003266	regulation of secondary heart field cardioblast proliferation	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003143	embryonic heart tube morphogenesis	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042826	histone deacetylase binding	IPI	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:0008284	positive regulation of cell population proliferation	ISS	biological process
GO:0048538	thymus development	ISS	biological process
GO:0061626	pharyngeal arch artery morphogenesis	ISS	biological process
GO:0003143	embryonic heart tube morphogenesis	ISS	biological process
GO:0003151	outflow tract morphogenesis	ISS	biological process
GO:0003281	ventricular septum development	ISS	biological process
GO:0035910	ascending aorta morphogenesis	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0045977	positive regulation of mitotic cell cycle, embryonic	ISS	biological process
GO:0048844	artery morphogenesis	ISS	biological process
GO:0060412	ventricular septum morphogenesis	ISS	biological process
GO:0097084	vascular smooth muscle cell development	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0007219	Notch signaling pathway	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:2000978	negative regulation of forebrain neuron differentiation	ISS	biological process
GO:0048715	negative regulation of oligodendrocyte differentiation	ISS	biological process
GO:0021861	forebrain radial glial cell differentiation	ISS	biological process
GO:0060253	negative regulation of glial cell proliferation	ISS	biological process
GO:0048711	positive regulation of astrocyte differentiation	ISS	biological process
GO:0008134	transcription factor binding	NAS	molecular function
GO:0065003	protein-containing complex assembly	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:2000974	negative regulation of pro-B cell differentiation	IMP	biological process
GO:2000737	negative regulation of stem cell differentiation	IMP	biological process
GO:0071820	N-box binding	ISS	molecular function
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0043388	positive regulation of DNA binding	ISS	biological process
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0007219	Notch signaling pathway	IMP	biological process
GO:0097150	neuronal stem cell population maintenance	IEP	biological process
GO:0046427	positive regulation of receptor signaling pathway via JAK-STAT	ISS	biological process
GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein	ISS	biological process
GO:0046425	regulation of receptor signaling pathway via JAK-STAT	ISS	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05165	Human papillomavirus infection
hsa05169	Epstein-Barr virus infection
hsa05224	Breast cancer
hsa04330	Notch signaling pathway
hsa03460	Fanconi anemia pathway
hsa04950	Maturity onset diabetes of the young

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881