HES5 hes family bHLH transcription factor 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HES5provided by HGNC
Official Full Name: hes family bHLH transcription factor 5provided by HGNC
Primary source: HGNC:HGNC:19764
See related: Ensembl:ENSG00000197921 MIM:607348; AllianceGenome:HGNC:19764
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: bHLHb38
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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.32

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (2528745..2530263, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (1970389..1971907, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (2460184..2461702, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Notch3/Hes5 Induces Vascular Dysfunction in Hypoxia-Induced Pulmonary Hypertension Through ER Stress and Redox-Sensitive Pathways.
Title: Notch3/Hes5 Induces Vascular Dysfunction in Hypoxia-Induced Pulmonary Hypertension Through ER Stress and Redox-Sensitive Pathways.
Repression of FBXW7 by HES5 contributes to inactivation of the TGF-beta signaling pathway and alleviation of endometriosis.
Title: Repression of FBXW7 by HES5 contributes to inactivation of the TGF-β signaling pathway and alleviation of endometriosis.
NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.
Title: NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.
HES5 might contribute to the proliferation of non-small cell lung cancer by STAT3 signaling.
Title: HES5 promotes cellular proliferation of non-small cell lung cancer through STAT3 signaling.
that suppression of the HES5 leading to inhibition of proliferation may be one of the mechanisms against Hepatocellular carcinoma
Title: HES5 promotes cell proliferation and invasion through activation of STAT3 and predicts poor survival in hepatocellular carcinoma.
HES5 silencing is an early and recurrent change in prostate tumourigenesis
Title: HES5 silencing is an early and recurrent change in prostate tumourigenesis.
these data identify HES5 as a key mediator of the Wnt-3a proneurogenic effect occurring independently of the classical Wnt/beta-catenin signaling cascade thus further deciphering crosstalk mechanisms of Wnt and Notch signaling pathways regulating cell fate
Title: HES5 is a key mediator of Wnt-3a-induced neuronal differentiation.
the downstream Notch signalling effector HES5 directly represses transcription of the E3 ligase Fbw7beta.
Title: Fbw7 repression by hes5 creates a feedback loop that modulates Notch-mediated intestinal and neural stem cell fate decisions.
Notch3 and Hes5 are hypermethylated in human B cell acute lymphoblastic leukemia (ALL).
Title: Epigenetic inactivation of Notch-Hes pathway in human B-cell acute lymphoblastic leukemia.
Hes5 overactivation is associated with cell differentiation, thereby resulting in uterine carcinogenesis.
Title: Hes1/Hes5 gene inhibits differentiation via down-regulating Hash1 and promotes proliferation in cervical carcinoma cells.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in S-shaped body morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in anterior/posterior pattern specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in astrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in brain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in camera-type eye development	ISS Inferred from Sequence or Structural Similarity more info
involved_in cartilage development	IDA Inferred from Direct Assay more info	PubMed
involved_in cell adhesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in central nervous system myelination	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in chondrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in comma-shaped body morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in establishment of epithelial cell polarity	IEA Inferred from Electronic Annotation more info
involved_in forebrain radial glial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in glial cell fate commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in inner ear auditory receptor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in inner ear receptor cell stereocilium organization	IEA Inferred from Electronic Annotation more info
involved_in metanephric nephron tubule morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of astrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of forebrain neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of inner ear auditory receptor cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of oligodendrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of pro-B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in neural tube development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuronal stem cell population maintenance	IEP Inferred from Expression Pattern more info	PubMed
involved_in oligodendrocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of BMP signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of receptor signaling pathway via JAK-STAT	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of smooth muscle cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tyrosine phosphorylation of STAT protein	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein-containing complex assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of myelination	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of neurogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in smoothened signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in specification of loop of Henle identity	IEA Inferred from Electronic Annotation more info
involved_in telencephalon development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: transcription factor HES-5

Names: class B basic helix-loop-helix protein 38; hairy and enhancer of split 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001010926.4 → NP_001010926.1 transcription factor HES-5

See identical proteins and their annotated locations for NP_001010926.1

Status: REVIEWED

Source sequence(s)

AL139246, BX104111, DQ272660

Consensus CDS

CCDS41233.1

UniProtKB/Swiss-Prot

B9DI85, Q5TA89

UniProtKB/TrEMBL

Q5M8T3

Related

ENSP00000367714.3, ENST00000378453.4

Conserved Domains (2) summary

cd00083
Location:14 → 71

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

cl02638
Location:86 → 121

Hairy_orange; Hairy Orange

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

2528745..2530263 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005244751.5 → XP_005244808.1 transcription factor HES-5 isoform X1

See identical proteins and their annotated locations for XP_005244808.1

UniProtKB/TrEMBL

Q5M8T3

Conserved Domains (2) summary

cd00083
Location:14 → 71

HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

cl02638
Location:118 → 153

Hairy_orange; Hairy Orange