HES5 - hes family bHLH transcription factor 5 Gene

Also Known as bHLHb38

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 388585

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

HLH: Helix-loop-helix DNA-binding domain (18 - 71)

Hairy_orange

Hairy_orange: Hairy Orange (86 - 122)

  • 0
  • 100
  • 166 a.a.
Protein Preferred Names Protein Names

transcription factor HES-5

  • class B basic helix-loop-helix protein 38

HES5 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81704 HES5 Antibody (YA1449) WB, IHC-P, IP Human, Mouse, Rat

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

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
Others HES5 NCBI