HES5 - hes family bHLH transcription factor 5 Gene

Homo sapiens

Also known as bHLHb38

Gene ID: 388585 | Gene type: protein coding

About HES5

Cytogenetic location: 1p36.32 Genomic coordinates (GRCh38): 1:2,528,745-2,530,263 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 726 orthologues and 12 paralogues. Low expression observed in reference dataset.

Summary

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]

HES5 Products(1)

mRNA	Protein	Name
NM_001010926.4	NP_001010926.1	transcription factor HES-5

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Notch signaling pathway	IMP IMP: Inferred from mutant phenotype	19682396	GOA
involved in cartilage development	IDA IDA: Inferred from direct assay	17093926	GOA
involved in negative regulation of stem cell differentiation	IMP IMP: Inferred from mutant phenotype	19682396	GOA
involved in neuronal stem cell population maintenance	IEP IEP: Inferred from expression pattern	19682396	GOA
involved in positive regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	17849174	GOA
involved in positive regulation of smooth muscle cell proliferation	IGI IGI: Inferred from genetic interaction	19855400	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HES5 Protein Structure

HLH

Hairy_orange

0
100
166 a.a.

Protein Preferred Names

Protein Names

transcription factor HES-5

class B basic helix-loop-helix protein 38

Related Diseases

Diseases

Alias

Large Intestine Adenoma

Adenoma Of Large Intestine

Alagille Syndrome 1

Alagille Syndrome	Arteriohepatic Dysplasia
Alagille-Watson Syndrome	Cholestasis With Peripheral Pulmonary Stenosis
Hepatic Ductular Hypoplasia	Alagille Syndrome Due To A Jag1 Point Mutation
ALGS1	Algs
Aws	Syndromic Bile Duct Paucity
Cardiovertebral Syndrome	Hepatofacioneurocardiovertebral Syndrome
Paucity Of Interlobular Bile Ducts	Watson-Miller Syndrome
Alagille Syndrome Due To 20p12 Microdeletion	Ahd
Hepatic Ductular Hypoplasia, Syndromatic	Watson Alagille Syndrome
Alagille'S Syndrome	Alagille Syndrome Due To Del(20)(P12)
Alagille Syndrome Due To Monosomy 20p12	Alagille-Watson Syndrome Due To Monosomy 20p12
Arteriohepatic Dysplasia Due To Monosomy 20p12	Syndromic Bile Duct Paucity Due To Monosomy 20p12
Alagille-Watson Syndrome Due To A Jag1 Point Mutation	Arteriohepatic Dysplasia Due To A Jag1 Point Mutation
Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation	Alagille Syndrome, Type 1

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome	Deletion 1p36
Monosomy 1p36	Subtelomeric 1p36 Deletion
Monosomy 1p36 Syndrome	Distal Monosomy 1p36
Del(1)(P36)	Deletion 1pter
Monosomy 1pter

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-120782	Yhhu-3792	Activator	99.76%	Unkown
HY-120782A	Yhhu-3792 hydrochloride	Activator	/	Unkown
HY-RS06138	HES5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HES5	MGD	MGI:104876
Felis catus	HES5	VGNC	VGNC:107554
Macaca mulatta	HES5	VGNC	VGNC:106381
Bos taurus	HES5	VGNC	VGNC:29822
Rattus norvegicus	HES5	RGD	RGD:621340
Canis familiaris	HES5	VGNC	VGNC:41666

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