HES1 hes family bHLH transcription factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HES1provided by HGNC
Official Full Name: hes family bHLH transcription factor 1provided by HGNC
Primary source: HGNC:HGNC:5192
See related: Ensembl:ENSG00000114315 MIM:139605; AllianceGenome:HGNC:5192
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: HHL; HRY; HES-1; bHLHb39
Summary: 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 interrupting protein that binds to the N-box rather than the canonical E-box. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in prostate (RPKM 46.7), thyroid (RPKM 44.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q29

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (194136148..194138732)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (196832819..196835403)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (193853937..193856521)

Chromosome 3 - NC_000003.12 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
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?

MLL1 inhibits the neurogenic potential of SCAPs by interacting with WDR5 and repressing HES1.
Title: MLL1 inhibits the neurogenic potential of SCAPs by interacting with WDR5 and repressing HES1.
Loss of HES1 expression is associated with extracellular matrix remodeling and tumor immune suppression in KRAS mutant colon adenocarcinomas.
Title: Loss of HES1 expression is associated with extracellular matrix remodeling and tumor immune suppression in KRAS mutant colon adenocarcinomas.
[Expressions and Clinical Significance of Notch1 and Hes1 in Diffuse Large B-Cell Lymphoma].
Title: [Expressions and Clinical Significance of Notch1 and Hes1 in Diffuse Large B-Cell Lymphoma].
NOTCH4[DeltaL12_16] sensitizes lung adenocarcinomas to EGFR-TKIs through transcriptional down-regulation of HES1.
Title: NOTCH4(ΔL12_16) sensitizes lung adenocarcinomas to EGFR-TKIs through transcriptional down-regulation of HES1.
The Role of Selenium-Mediated Notch/Hes1 Signaling Pathway in Kashin-Beck Disease Patients and Cartilage Injury Models.
Title: The Role of Selenium-Mediated Notch/Hes1 Signaling Pathway in Kashin-Beck Disease Patients and Cartilage Injury Models.
HES1 deficiency impairs development of human intestinal mesenchyme by suppressing WNT5A expression.
Title: HES1 deficiency impairs development of human intestinal mesenchyme by suppressing WNT5A expression.
Transcription Factor HES-1: How Is the Expression of This Transcriptional Factor in Paucibacillary Leprosy Patients?
Title: Transcription Factor HES-1: How Is the Expression of This Transcriptional Factor in Paucibacillary Leprosy Patients?
Low HES-1 and positive DLL4 expression predicts poor prognosis of colorectal cancers.
Title: Low HES-1 and positive DLL4 expression predicts poor prognosis of colorectal cancers.
HES1 promoter activation dynamics reveal the plasticity, stemness and heterogeneity in neuroblastoma cancer stem cells.
Title: HES1 promoter activation dynamics reveal the plasticity, stemness and heterogeneity in neuroblastoma cancer stem cells.
Ischemic preconditioning/ischemic postconditioning alleviates anoxia/reoxygenation injury via the Notch1/Hes1/VDAC1 axis.
Title: Ischemic preconditioning/ischemic postconditioning alleviates anoxia/reoxygenation injury via the Notch1/Hes1/VDAC1 axis.

Submit: New GeneRIF Correction See all GeneRIFs (155)

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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of hairy and enhancer of split 1 (HES1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93226 (e-PCR)
- UniSTS:86110

STS-L19314 (e-PCR)
- UniSTS:9087

HES1 (e-PCR)
- UniSTS:505533

Hes1 (e-PCR), detects polymorphism
- UniSTS:265714

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables E-box binding	IBA Inferred from Biological aspect of Ancestor more info
enables E-box binding	ISS Inferred from Sequence or Structural Similarity more info
enables HLH domain binding	IEA Inferred from Electronic Annotation more info
enables JUN kinase binding	IEA Inferred from Electronic Annotation more info
enables N-box binding	IBA Inferred from Biological aspect of Ancestor more info
enables N-box binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-folding chaperone binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription corepressor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in Cajal-Retzius cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
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 T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in adenohypophysis development	IEA Inferred from Electronic Annotation more info
involved_in amacrine cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in anterior/posterior pattern specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in artery morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in ascending aorta morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cardiac neural crest cell development involved in outflow tract morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell fate determination	IEA Inferred from Electronic Annotation more info
involved_in cell maturation	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IEA Inferred from Electronic Annotation more info
involved_in cell morphogenesis involved in neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to fatty acid	IEA Inferred from Electronic Annotation more info
involved_in cellular response to interleukin-1	IEA Inferred from Electronic Annotation more info
involved_in cellular response to nerve growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in cochlea development	IEA Inferred from Electronic Annotation more info
involved_in comma-shaped body morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in common bile duct development	IEA Inferred from Electronic Annotation more info
involved_in embryonic heart tube morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of epithelial cell polarity	IEA Inferred from Electronic Annotation more info
involved_in forebrain radial glial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in glomerulus vasculature development	IEA Inferred from Electronic Annotation more info
involved_in hindbrain morphogenesis	IEA Inferred from Electronic Annotation 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 labyrinthine layer blood vessel development	IEA Inferred from Electronic Annotation more info
involved_in lateral inhibition	IEA Inferred from Electronic Annotation more info
involved_in liver development	IEA Inferred from Electronic Annotation more info
involved_in lung development	IEA Inferred from Electronic Annotation more info
involved_in metanephric nephron tubule morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in midbrain development	IEA Inferred from Electronic Annotation more info
involved_in midbrain-hindbrain boundary morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of amacrine cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of calcium ion import	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell fate determination	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of forebrain neuron differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of glial cell proliferation	ISS Inferred from Sequence or Structural Similarity 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	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of oligodendrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of pancreatic A cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of pro-B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of stomach neuroendocrine cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in neuronal stem cell population maintenance	IEP Inferred from Expression Pattern more info	PubMed
involved_in oculomotor nerve development	IEA Inferred from Electronic Annotation more info
involved_in outflow tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in pancreatic A cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in pharyngeal arch artery morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA binding	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 T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of astrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mitotic cell cycle, embryonic	ISS Inferred from Sequence or Structural Similarity more info
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 transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity 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 epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of protein-containing complex assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of receptor signaling pathway via JAK-STAT	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of secondary heart field cardioblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of timing of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in renal interstitial fibroblast development	IEA Inferred from Electronic Annotation more info
involved_in response to alkaloid	IEA Inferred from Electronic Annotation more info
involved_in response to organic cyclic compound	IEA Inferred from Electronic Annotation more info
involved_in response to thyroid hormone	IEA Inferred from Electronic Annotation more info
involved_in smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in somatic stem cell population maintenance	IEA Inferred from Electronic Annotation more info
involved_in stomach neuroendocrine cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in telencephalon development	IEA Inferred from Electronic Annotation more info
involved_in thymus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in trochlear nerve development	IEA Inferred from Electronic Annotation more info
involved_in ureteric bud morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in vascular associated smooth muscle cell development	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular septum development	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular septum morphogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of chromatin	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nuclear matrix	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: transcription factor HES-1

Names: class B basic helix-loop-helix protein 39; hairy homolog; hairy-like protein

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_005524.4 → NP_005515.1 transcription factor HES-1

See identical proteins and their annotated locations for NP_005515.1

Status: REVIEWED

Source sequence(s)

AC080129, AI370424, AK000415

Consensus CDS

CCDS3305.1

UniProtKB/Swiss-Prot

Q14469, Q6FHB2

UniProtKB/TrEMBL

Q8IXV0

Related

ENSP00000232424.3, ENST00000232424.4

Conserved Domains (2) summary

cd11459
Location:33 → 95

bHLH-O_HES1_4; basic helix-loop-helix-orange (bHLH-O) domain found in hairy and enhancer of split HES-1, HES-4 and similar proteins

pfam07527
Location:110 → 148

Hairy_orange; Hairy Orange