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

Gene ID: 3280, updated on 21-Apr-2019

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
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

Genomic context

See HES1 in Genome Data Viewer
Location:
3q29
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (194136142..194138612)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (193853931..193856401)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2026 Neighboring gene developmental pluripotency associated 2 pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 2028 Neighboring gene uncharacterized LOC102724877 Neighboring gene RNA, 7SL, cytoplasmic 215, pseudogene Neighboring gene uncharacterized LOC107986172

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

  • ATF-2 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    ATF-2 transcription factor network, organism-specific biosystem
    ATF-2 transcription factor network
  • Aryl Hydrocarbon Receptor Pathway, organism-specific biosystem (from WikiPathways)
    Aryl Hydrocarbon Receptor Pathway, organism-specific biosystemThe aryl hydrocarbon receptor (AhR) is a transcription factor (part of the group of nuclear receptors) that responds to the presence of aromatic hydrocarbons. It regulates genes involved xenobiotic m...
  • Breast cancer, organism-specific biosystem (from KEGG)
    Breast cancer, organism-specific biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
  • Breast cancer, conserved biosystem (from KEGG)
    Breast cancer, conserved biosystemBreast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gla...
  • C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    C-MYB transcription factor network, organism-specific biosystem
    C-MYB transcription factor network
  • Canonical and Non-canonical Notch signaling, organism-specific biosystem (from WikiPathways)
    Canonical and Non-canonical Notch signaling, organism-specific biosystemThis pathway is based on figure 1 of "Alteration of Notch signaling in skeletal development and disease" (see bibliography). In the NOTCH signaling pathway, mammals have 11 ligands (JAG, DLL, DLK, et...
  • Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, organism-specific biosystemWhen found in cis, HD and PEST domain mutations act synergistically, increasing NOTCH1 transcriptional activity up to ~40-fold, compared with up to ~10-fold and up to ~2-fold increase with HD mutatio...
  • Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystem (from REACTOME)
    Constitutive Signaling by NOTCH1 PEST Domain Mutants, organism-specific biosystemAs NOTCH1 PEST domain is intracellular, NOTCH1 PEST domain mutants are expected to behave as the wild-type NOTCH1 with respect to ligand binding and proteolytic cleavage mediated activation of signal...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Gene regulatory network modelling somitogenesis, organism-specific biosystem (from WikiPathways)
    Gene regulatory network modelling somitogenesis, organism-specific biosystemReaction scheme of the proposed gene regulatory network (GRN). The scheme details the full GRN for one cell and part of a neighboring cell for those reactions that involve ligand-receptor interactio...
  • Maturity onset diabetes of the young, organism-specific biosystem (from KEGG)
    Maturity onset diabetes of the young, organism-specific biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
  • Maturity onset diabetes of the young, conserved biosystem (from KEGG)
    Maturity onset diabetes of the young, conserved biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
  • NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystem (from REACTOME)
    NOTCH1 Intracellular Domain Regulates Transcription, organism-specific biosystemNICD1 produced by activation of NOTCH1 in response to Delta and Jagged ligands (DLL/JAG) presented in trans, traffics to the nucleus where it acts as a transcription regulator. In the nucleus, NICD1 ...
  • NOTCH2 intracellular domain regulates transcription, organism-specific biosystem (from REACTOME)
    NOTCH2 intracellular domain regulates transcription, organism-specific biosystemIn the nucleus, NICD2 forms a complex with RBPJ (CBF1, CSL) and MAML (mastermind). NICD2:RBPJ:MAML complex activates transcription from RBPJ-binding promoter elements (RBEs) (Wu et al. 2000). Besides...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
  • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Notch Signaling Pathway, organism-specific biosystemThe Notch pathway is an evolutionally conserved signaling pathway which plays an important role in diverse developmental and physiological processes. These include cell-fate determination, tissue pat...
  • Notch signaling pathway, organism-specific biosystem (from KEGG)
    Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Notch signaling pathway, conserved biosystem (from KEGG)
    Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
  • Notch-mediated HES/HEY network, organism-specific biosystem (from Pathway Interaction Database)
    Notch-mediated HES/HEY network, organism-specific biosystem
    Notch-mediated HES/HEY network
  • Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
    Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
  • Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells, organism-specific biosystem (from REACTOME)
    Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells, organism-specific biosystemThe properties of transcriptional networks in late stage (branching morphogenesis) pancreatic bud precursor cells are inferred from the properties of well-studied networks in mouse models. In mice, c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
  • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
  • Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer, organism-specific biosystemMutations in the heterodimerization domain (HD) and PEST domain of NOTCH1 are frequently found in cis in T-cell acute lymphoblastic leukemia. While HD mutations alone result in up to ~10-fold increas...
  • Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 PEST Domain Mutants in Cancer, organism-specific biosystemNOTCH1 PEST domain mutations are frequently found in T-cell acute lymphoblastic leukemia (T-ALL). PEST domain mutations interfere with ubiquitination-mediated NOTCH1 downregulation and result in prol...
  • Signaling by NOTCH1 in Cancer, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1 in Cancer, organism-specific biosystemHuman NOTCH1 was cloned as a chromosome 9 gene, translocated to the T-cell beta receptor (TCBR) promoter on chromosome 7 in T-cell acute lymphoblastic leukemia (T-ALL) (Ellisen et al. 1991). This tra...
  • Signaling by NOTCH2, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH2, organism-specific biosystemNOTCH2 is activated by binding Delta-like and Jagged ligands (DLL/JAG) expressed in trans on neighboring cells (Shimizu et al. 1999, Shimizu et al. 2000, Hicks et al. 2000, Ji et al. 2004). In trans ...
  • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
  • miR-148a/miR-31/FIH1/HIF1α-Notch signaling in glioblastoma, organism-specific biosystem (from WikiPathways)
    miR-148a/miR-31/FIH1/HIF1α-Notch signaling in glioblastoma, organism-specific biosystemmiR-148a and miR-31 target the factor inhibiting hypoxia (FIH1) to promote downstream HIF1? and Notch signaling

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20408

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
N-box binding ISS
Inferred from Sequence or Structural Similarity
more info
 
chaperone binding IEA
Inferred from Electronic Annotation
more info
 
histone deacetylase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription factor binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Notch signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
S-shaped body morphogenesis IEA
Inferred from Electronic Annotation
more info
 
adenohypophysis development IEA
Inferred from Electronic Annotation
more info
 
artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
ascending aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
auditory receptor cell fate determination IEA
Inferred from Electronic Annotation
more info
 
cardiac neural crest cell development involved in outflow tract morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell maturation IEA
Inferred from Electronic Annotation
more info
 
cell migration IEA
Inferred from Electronic Annotation
more info
 
cell morphogenesis involved in neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
cochlea development IEA
Inferred from Electronic Annotation
more info
 
comma-shaped body morphogenesis IEA
Inferred from Electronic Annotation
more info
 
common bile duct development IEA
Inferred from Electronic Annotation
more info
 
embryonic heart tube morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
establishment of epithelial cell polarity IEA
Inferred from Electronic Annotation
more info
 
forebrain radial glial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
glomerulus vasculature development IEA
Inferred from Electronic Annotation
more info
 
hindbrain morphogenesis IEA
Inferred from Electronic Annotation
more info
 
inner ear receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
 
labyrinthine layer blood vessel development IEA
Inferred from Electronic Annotation
more info
 
lateral inhibition IEA
Inferred from Electronic Annotation
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
lung development IEA
Inferred from Electronic Annotation
more info
 
metanephric nephron tubule morphogenesis IEA
Inferred from Electronic Annotation
more info
 
midbrain development IEA
Inferred from Electronic Annotation
more info
 
midbrain-hindbrain boundary morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of forebrain neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of glial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of inner ear auditory receptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of oligodendrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of pancreatic A cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of pro-B cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of stem cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of stomach neuroendocrine cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
neuronal stem cell population maintenance IEP
Inferred from Expression Pattern
more info
PubMed 
oculomotor nerve development IEA
Inferred from Electronic Annotation
more info
 
outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
pancreas development IEA
Inferred from Electronic Annotation
more info
 
pharyngeal arch artery morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of JAK-STAT cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of T cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of astrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of mitotic cell cycle, embryonic ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
 
positive regulation of tyrosine phosphorylation of STAT protein ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of JAK-STAT cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of secondary heart field cardioblast proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of timing of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
renal interstitial fibroblast development IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
somatic stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
telencephalon development IEA
Inferred from Electronic Annotation
more info
 
thymus development ISS
Inferred from Sequence or Structural Similarity
more info
 
trochlear nerve development IEA
Inferred from Electronic Annotation
more info
 
ureteric bud morphogenesis IEA
Inferred from Electronic Annotation
more info
 
vascular smooth muscle cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular septum development ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
transcription factor HES-1
Names
class B basic helix-loop-helix protein 39
hairy homolog
hairy-like protein

NCBI Reference Sequences (RefSeq)

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)

  1. NM_005524.4NP_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
    Related
    ENSP00000232424.3, ENST00000232424.4
    Conserved Domains (2) summary
    cd00083
    Location:3295
    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, ...
    pfam07527
    Location:110148
    Hairy_orange; Hairy Orange

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    194136142..194138612
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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