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Gene id

388585

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

HES5 Gene UCSC Ensembl

Aliases

bHLHb38

Gene name

hes family bHLH transcription factor 5

Alternate names

transcription factor HES-5, class B basic helix-loop-helix protein 38, hairy and enhancer of split 5,

Gene location

1p36.32 (2530553: 2528744) Exons: 2 NC_000001.11

Gene summary(Entrez)

This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq, Dec 2008]

OMIM

607348

Protein Summary

Protein general information

Q5TA89

Name: Transcription factor HES 5 (Class B basic helix loop helix protein 38) (bHLHb38) (Hairy and enhancer of split 5)

Length: 166 Mass: 18,226

Tissue specificity: Expressed in fetal heart and brain tumors. {ECO

Sequence

MAPSTVAVELLSPKEKNRLRKPVVEKMRRDRINSSIEQLKLLLEQEFARHQPNSKLEKADILEMAVSYLKHSKAF
VAAAGPKSLHQDYSEGYSWCLQEAVQFLTLHAASDTQMKLLYHFQRPPAAPAAPAKEPKAPGAAPPPALSAKATA
AAAAAHQPACGLWRPW

Structural information

Protein Domains	bHLH. (16-72) Orange. (88-119)
Motifs	WRPW motif.(163-166)
Interpro:	IPR011598 IPR003650
Prosite:	PS50888 PS51054
Pfam:	PF07527 PF00010
CDD:	cd00083
STRING:	ENSP00000367714;

Other Databases

GeneCards: HES5; Malacards: HES5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	ISS	molecular_function
GO:0003682	chromatin binding	IEA	molecular_function
GO:0003690	double-stranded DNA bindi ng	IEA	molecular_function
GO:0005575	cellular_component	ND	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006461	protein complex assembly	ISS	biological_process
GO:0007155	cell adhesion	ISS	biological_process
GO:0007219	Notch signaling pathway	IMP	biological_process
GO:0007219	Notch signaling pathway	IMP	biological_process
GO:0007219	Notch signaling pathway	TAS	biological_process
GO:0007224	smoothened signaling path way	ISS	biological_process
GO:0007420	brain development	ISS	biological_process
GO:0008134	transcription factor bind ing	NAS	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0014003	oligodendrocyte developme nt	ISS	biological_process
GO:0021537	telencephalon development	ISS	biological_process
GO:0021781	glial cell fate commitmen t	ISS	biological_process
GO:0021861	forebrain radial glial ce ll differentiation	IEA	biological_process
GO:0021915	neural tube development	ISS	biological_process
GO:0022010	central nervous system my elination	ISS	biological_process
GO:0030513	positive regulation of BM P signaling pathway	ISS	biological_process
GO:0031641	regulation of myelination	ISS	biological_process
GO:0042491	auditory receptor cell di fferentiation	ISS	biological_process
GO:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	ISS	biological_process
GO:0042668	auditory receptor cell fa te determination	IEA	biological_process
GO:0043010	camera-type eye developme nt	ISS	biological_process
GO:0045595	regulation of cell differ entiation	ISS	biological_process
GO:0045607	regulation of auditory re ceptor cell differentiati on	IEA	biological_process
GO:0045665	negative regulation of ne uron differentiation	ISS	biological_process
GO:0045747	positive regulation of No tch signaling pathway	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0046427	positive regulation of JA K-STAT cascade	ISS	biological_process
GO:0046983	protein dimerization acti vity	IEA	molecular_function
GO:0048469	cell maturation	ISS	biological_process
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IGI	biological_process
GO:0048708	astrocyte differentiation	ISS	biological_process
GO:0048712	negative regulation of as trocyte differentiation	ISS	biological_process
GO:0048715	negative regulation of ol igodendrocyte differentia tion	ISS	biological_process
GO:0050678	regulation of epithelial cell proliferation	IEA	biological_process
GO:0050767	regulation of neurogenesi s	ISS	biological_process
GO:0051216	cartilage development	IDA	biological_process
GO:0060122	inner ear receptor stereo cilium organization	IEA	biological_process
GO:0072049	comma-shaped body morphog enesis	IEA	biological_process
GO:0072050	S-shaped body morphogenes is	IEA	biological_process
GO:0072086	specification of loop of Henle identity	IEA	biological_process
GO:0072282	metanephric nephron tubul e morphogenesis	IEA	biological_process
GO:0090162	establishment of epitheli al cell polarity	IEA	biological_process
GO:0097150	neuronal stem cell popula tion maintenance	IEP	biological_process
GO:2000737	negative regulation of st em cell differentiation	IMP	biological_process
GO:2000974	negative regulation of pr o-B cell differentiation	ISS	biological_process
GO:2000978	negative regulation of fo rebrain neuron differenti ation	IEA	biological_process
GO:2000981	negative regulation of in ner ear receptor cell dif ferentiation	IEA	biological_process
GO:0002062	chondrocyte differentiati on	ISS	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IEA	molecular_function
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	ISS	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003682	chromatin binding	IEA	molecular_function
GO:0003690	double-stranded DNA bindi ng	IEA	molecular_function
GO:0005575	cellular_component	ND	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	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:0006461	protein complex assembly	IEA	biological_process
GO:0006461	protein complex assembly	ISS	biological_process
GO:0007155	cell adhesion	IEA	biological_process
GO:0007155	cell adhesion	ISS	biological_process
GO:0007219	Notch signaling pathway	IEA	biological_process
GO:0007219	Notch signaling pathway	IMP	biological_process
GO:0007219	Notch signaling pathway	IMP	biological_process
GO:0007219	Notch signaling pathway	TAS	biological_process
GO:0007224	smoothened signaling path way	IEA	biological_process
GO:0007224	smoothened signaling path way	ISS	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0007399	nervous system developmen t	IEA	biological_process
GO:0007420	brain development	IEA	biological_process
GO:0007420	brain development	ISS	biological_process
GO:0008134	transcription factor bind ing	NAS	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0014003	oligodendrocyte developme nt	IEA	biological_process
GO:0014003	oligodendrocyte developme nt	ISS	biological_process
GO:0021537	telencephalon development	IEA	biological_process
GO:0021537	telencephalon development	ISS	biological_process
GO:0021781	glial cell fate commitmen t	IEA	biological_process
GO:0021781	glial cell fate commitmen t	ISS	biological_process
GO:0021861	forebrain radial glial ce ll differentiation	IEA	biological_process
GO:0021915	neural tube development	IEA	biological_process
GO:0021915	neural tube development	ISS	biological_process
GO:0022010	central nervous system my elination	IEA	biological_process
GO:0022010	central nervous system my elination	ISS	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0030182	neuron differentiation	IEA	biological_process
GO:0030513	positive regulation of BM P signaling pathway	IEA	biological_process
GO:0030513	positive regulation of BM P signaling pathway	ISS	biological_process
GO:0031641	regulation of myelination	IEA	biological_process
GO:0031641	regulation of myelination	ISS	biological_process
GO:0042491	auditory receptor cell di fferentiation	IEA	biological_process
GO:0042491	auditory receptor cell di fferentiation	ISS	biological_process
GO:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	IEA	biological_process
GO:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	ISS	biological_process
GO:0042668	auditory receptor cell fa te determination	IEA	biological_process
GO:0043010	camera-type eye developme nt	IEA	biological_process
GO:0043010	camera-type eye developme nt	ISS	biological_process
GO:0045595	regulation of cell differ entiation	IEA	biological_process
GO:0045595	regulation of cell differ entiation	ISS	biological_process
GO:0045607	regulation of auditory re ceptor cell differentiati on	IEA	biological_process
GO:0045665	negative regulation of ne uron differentiation	IEA	biological_process
GO:0045665	negative regulation of ne uron differentiation	ISS	biological_process
GO:0045747	positive regulation of No tch signaling pathway	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0046427	positive regulation of JA K-STAT cascade	IEA	biological_process
GO:0046427	positive regulation of JA K-STAT cascade	ISS	biological_process
GO:0046983	protein dimerization acti vity	IEA	molecular_function
GO:0048469	cell maturation	IEA	biological_process
GO:0048469	cell maturation	ISS	biological_process
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IGI	biological_process
GO:0048708	astrocyte differentiation	IEA	biological_process
GO:0048708	astrocyte differentiation	ISS	biological_process
GO:0048712	negative regulation of as trocyte differentiation	IEA	biological_process
GO:0048712	negative regulation of as trocyte differentiation	ISS	biological_process
GO:0048715	negative regulation of ol igodendrocyte differentia tion	IEA	biological_process
GO:0048715	negative regulation of ol igodendrocyte differentia tion	ISS	biological_process
GO:0050678	regulation of epithelial cell proliferation	IEA	biological_process
GO:0050767	regulation of neurogenesi s	IEA	biological_process
GO:0050767	regulation of neurogenesi s	ISS	biological_process
GO:0051216	cartilage development	IEA	biological_process
GO:0051216	cartilage development	IDA	biological_process
GO:0060122	inner ear receptor stereo cilium organization	IEA	biological_process
GO:0072049	comma-shaped body morphog enesis	IEA	biological_process
GO:0072050	S-shaped body morphogenes is	IEA	biological_process
GO:0072086	specification of loop of Henle identity	IEA	biological_process
GO:0072282	metanephric nephron tubul e morphogenesis	IEA	biological_process
GO:0090162	establishment of epitheli al cell polarity	IEA	biological_process
GO:0097150	neuronal stem cell popula tion maintenance	IEA	biological_process
GO:0097150	neuronal stem cell popula tion maintenance	IEP	biological_process
GO:2000737	negative regulation of st em cell differentiation	IMP	biological_process
GO:2000974	negative regulation of pr o-B cell differentiation	IEA	biological_process
GO:2000974	negative regulation of pr o-B cell differentiation	ISS	biological_process
GO:2000978	negative regulation of fo rebrain neuron differenti ation	IEA	biological_process
GO:2000981	negative regulation of in ner ear receptor cell dif ferentiation	IEA	biological_process
GO:0002062	chondrocyte differentiati on	ISS	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	ISS	molecular_function
GO:0005575	cellular_component	ND	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0006461	protein complex assembly	ISS	biological_process
GO:0007155	cell adhesion	ISS	biological_process
GO:0007219	Notch signaling pathway	IMP	biological_process
GO:0007219	Notch signaling pathway	IMP	biological_process
GO:0007219	Notch signaling pathway	TAS	biological_process
GO:0007224	smoothened signaling path way	ISS	biological_process
GO:0007420	brain development	ISS	biological_process
GO:0008134	transcription factor bind ing	NAS	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IMP	biological_process
GO:0014003	oligodendrocyte developme nt	ISS	biological_process
GO:0021537	telencephalon development	ISS	biological_process
GO:0021781	glial cell fate commitmen t	ISS	biological_process
GO:0021915	neural tube development	ISS	biological_process
GO:0022010	central nervous system my elination	ISS	biological_process
GO:0030513	positive regulation of BM P signaling pathway	ISS	biological_process
GO:0031641	regulation of myelination	ISS	biological_process
GO:0042491	auditory receptor cell di fferentiation	ISS	biological_process
GO:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	ISS	biological_process
GO:0043010	camera-type eye developme nt	ISS	biological_process
GO:0045595	regulation of cell differ entiation	ISS	biological_process
GO:0045665	negative regulation of ne uron differentiation	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0046427	positive regulation of JA K-STAT cascade	ISS	biological_process
GO:0048469	cell maturation	ISS	biological_process
GO:0048661	positive regulation of sm ooth muscle cell prolifer ation	IGI	biological_process
GO:0048708	astrocyte differentiation	ISS	biological_process
GO:0048712	negative regulation of as trocyte differentiation	ISS	biological_process
GO:0048715	negative regulation of ol igodendrocyte differentia tion	ISS	biological_process
GO:0050767	regulation of neurogenesi s	ISS	biological_process
GO:0051216	cartilage development	IDA	biological_process
GO:0097150	neuronal stem cell popula tion maintenance	IEP	biological_process
GO:2000737	negative regulation of st em cell differentiation	IMP	biological_process
GO:2000974	negative regulation of pr o-B cell differentiation	ISS	biological_process
GO:0002062	chondrocyte differentiati on	ISS	biological_process

KEGG pathways

hsa05224 Breast cancer
hsa04330 Notch signaling pathway

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