HES1 Gene (Protein Coding)

Hes Family BHLH Transcription Factor 1

GC03P194136
GIFtS:
45
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] See more...

Aliases for HES1 Gene

Aliases for HES1 Gene

  • Hes Family BHLH Transcription Factor 1 2 3 5
  • Class B Basic Helix-Loop-Helix Protein 39 3 4
  • Transcription Factor HES-1 3 4
  • Hairy-Like Protein 3 4
  • Hairy Homolog 3 4
  • BHLHb39 3 4
  • HHL 3 4
  • HRY 3 4
  • Hairy And Enhancer Of Split 1, (Drosophila) 2
  • Hairy And Enhancer Of Split 1 4
  • Hairy Homolog (Drosophila) 2
  • BHLHB39 4
  • HES-1 3
  • HL 4

External Ids for HES1 Gene

Previous HGNC Symbols for HES1 Gene

  • HRY

Previous GeneCards Identifiers for HES1 Gene

  • GC03P195130
  • GC03P195255
  • GC03P195174
  • GC03P195336
  • GC03P193853
  • GC03P191241

Summaries for HES1 Gene

Entrez Gene Summary for HES1 Gene

  • 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]

GeneCards Summary for HES1 Gene

HES1 (Hes Family BHLH Transcription Factor 1) is a Protein Coding gene. Diseases associated with HES1 include Precursor T-Cell Acute Lymphoblastic Leukemia and Medulloblastoma. Among its related pathways are Developmental Biology and miR-148a/miR-31/FIH1/HIF1andalpha;-Notch signaling in glioblastoma. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is HES4.

UniProtKB/Swiss-Prot Summary for HES1 Gene

  • Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs: 5'-CACNAG-3' with high affinity and on E-box motifs: 5'-CANNTG-3' with low affinity (By similarity). May play a role in a functional FA core complex response to DNA cross-link damage, being required for the stability and nuclear localization of FA core complex proteins, as well as for FANCD2 monoubiquitination in response to DNA damage.

Gene Wiki entry for HES1 Gene

Additional gene information for HES1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HES1 Gene

Genomics for HES1 Gene

GeneHancer (GH) Regulatory Elements for HES1 Gene

Promoters and enhancers for HES1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HES1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HES1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • GATA-1
  • STAT3

Genomic Locations for HES1 Gene

Genomic Locations for HES1 Gene
chr3:194,136,142-194,138,732
(GRCh38/hg38)
Size:
2,591 bases
Orientation:
Plus strand
chr3:193,853,931-193,856,521
(GRCh37/hg19)
Size:
2,591 bases
Orientation:
Plus strand

Genomic View for HES1 Gene

Genes around HES1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HES1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HES1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HES1 Gene

Proteins for HES1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for HES1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14469-HES1_HUMAN
    Recommended name:
    Transcription factor HES-1
    Protein Accession:
    Q14469
    Secondary Accessions:
    • Q6FHB2

    Protein attributes for HES1 Gene

    Size:
    280 amino acids
    Molecular mass:
    29541 Da
    Quaternary structure:
    • Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family. Interacts (via WPRW motif) with TLE1, and more weakly with TLE2. Interacts with HES6 (By similarity). Interacts with SIRT1. Interacts with an FA complex, composed of FANCA, FANCF, FANCG and FANCL, but not of FANCC, nor FANCE.

    Three dimensional structures from OCA and Proteopedia for HES1 Gene

neXtProt entry for HES1 Gene

Protein Expression for HES1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HES1 Gene

  • Ubiquitination at Lys86 and Lys109
  • Modification sites at PhosphoSitePlus

Other Protein References for HES1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for HES1
  • Boster Bio Antibodies for HES1

No data available for DME Specific Peptides for HES1 Gene

Domains & Families for HES1 Gene

Gene Families for HES1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HES1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HES1 Gene

GenScript: Design optimal peptide antigens:
  • Hairy-like protein (HES1_HUMAN)
  • HES1 protein (Q8IXV0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14469

UniProtKB/Swiss-Prot:

HES1_HUMAN :
  • Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box (CACNAG), rather than the canonical E-box (CANNTG).
Domain:
  • Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box (CACNAG), rather than the canonical E-box (CANNTG).
  • The C-terminal WRPW motif is a transcriptional repression domain necessary for the interaction with Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins.
  • The bHLH, as well as cooperation between the central Orange domain and the C-terminal WRPW motif, is required for transcriptional repressor activity.
genes like me logo Genes that share domains with HES1: view

Function for HES1 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for HES1 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor of genes that require a bHLH protein for their transcription. May act as a negative regulator of myogenesis by inhibiting the functions of MYOD1 and ASH1. Binds DNA on N-box motifs: 5'-CACNAG-3' with high affinity and on E-box motifs: 5'-CANNTG-3' with low affinity (By similarity). May play a role in a functional FA core complex response to DNA cross-link damage, being required for the stability and nuclear localization of FA core complex proteins, as well as for FANCD2 monoubiquitination in response to DNA damage.

Phenotypes From GWAS Catalog for HES1 Gene

Gene Ontology (GO) - Molecular Function for HES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IEA,NAS 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IEA,ISS --
GO:0003677 DNA binding TAS 7906273
GO:0003700 DNA-binding transcription factor activity IDA 17681138
genes like me logo Genes that share ontologies with HES1: view
genes like me logo Genes that share phenotypes with HES1: view

Animal Models for HES1 Gene

MGI Knock Outs for HES1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HES1

Clone Products

  • Addgene plasmids for HES1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HES1 Gene

Localization for HES1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HES1 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HES1 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,ISS --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with HES1: view

Pathways & Interactions for HES1 Gene

genes like me logo Genes that share pathways with HES1: view

SIGNOR curated interactions for HES1 Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for HES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 12032823
GO:0001701 in utero embryonic development IEA --
GO:0001889 liver development IEA --
GO:0003143 embryonic heart tube morphogenesis ISS,IEA --
GO:0003151 outflow tract morphogenesis IEA,ISS --
genes like me logo Genes that share ontologies with HES1: view

Drugs & Compounds for HES1 Gene

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  1. Drug

(1) Drugs for HES1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for HES1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HES1: view

Transcripts for HES1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for HES1 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(213) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HES1

Clone Products

  • Addgene plasmids for HES1

Alternative Splicing Database (ASD) splice patterns (SP) for HES1 Gene

No ASD Table

Relevant External Links for HES1 Gene

GeneLoc Exon Structure for
HES1
ECgene alternative splicing isoforms for
HES1

Expression for HES1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HES1 Gene

mRNA expression in normal human tissues for HES1 Gene
mRNA expression by GTEx for HES1 GenemRNA expression by BioGPS for HES1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HES1 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x4.4).

Protein differential expression in normal tissues from HIPED for HES1 Gene

This gene is overexpressed in Blymphocyte (52.9) and Heart (16.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HES1 Gene



Protein tissue co-expression partners for HES1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HES1 Gene:

HES1

SOURCE GeneReport for Unigene cluster for HES1 Gene:

Hs.250666

Evidence on tissue expression from TISSUES for HES1 Gene

  • Liver(4.9)
  • Kidney(4.4)
  • Nervous system(2.5)
  • Eye(2.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with HES1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HES1 Gene

Orthologs for HES1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HES1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia HES1 33 32
  • 99.88 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia HES1 33 32
  • 93.81 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Hes1 32
  • 90.71 (n)
mouse
(Mus musculus)
 Mammalia Hes1 17 33 32
  • 89.76 (n)
oppossum
(Monodelphis domestica)
 Mammalia HES1 33
  • 82 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia HES1 33
  • 80 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CHAIRY-1 33
  • 60 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 61 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia hes1 32
  • 71.05 (n)
Str.10866 32
African clawed frog
(Xenopus laevis)
 Amphibia LOC397813 32
zebrafish
(Danio rerio)
 Actinopterygii her6 32 32
  • 69.41 (n)
her9 33
  • 62 (a)
 ManyToMany
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.686 32
fruit fly
(Drosophila melanogaster)
 Insecta h 33
  • 28 (a)
 ManyToMany
dpn 33
  • 22 (a)
 ManyToMany
Side 33
  • 18 (a)
 ManyToMany
Species where no ortholog for HES1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HES1 Gene

ENSEMBL:
Gene Tree for HES1 (if available)
TreeFam:
Gene Tree for HES1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HES1: view image

Paralogs for HES1 Gene

Paralogs for HES1 Gene

(4) SIMAP similar genes for HES1 Gene using alignment to 2 proteins:

  • HES1_HUMAN
  • Q8IXV0_HUMAN
genes like me logo Genes that share paralogs with HES1: view

Variants for HES1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for HES1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1001457073 -- 194,135,022(+) G/C/T upstream_transcript_variant
rs1001888324 -- 194,134,901(+) C/A/T upstream_transcript_variant
rs1002143313 -- 194,138,897(+) C/T downstream_transcript_variant
rs1002257985 -- 194,139,102(+) A/G downstream_transcript_variant
rs1002483272 -- 194,134,284(+) CGGCGGCGGCGGCGGCG/CGGCGGCGGCGGCG/CGGCGGCGGCGGCGGCGGCG/CGGCGGCGGCGGCGGCGGCGGCG upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for HES1 Gene

Variant ID Type Subtype PubMed ID
nsv822397 CNV gain 20364138
nsv822399 CNV gain 20364138
nsv822400 CNV gain 20364138

Variation tolerance for HES1 Gene

Residual Variation Intolerance Score: 19.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HES1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HES1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HES1 Gene

Disorders for HES1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HES1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
precursor t-cell acute lymphoblastic leukemia
  • precursor t-cell acute lymphoblastic leukemia/lymphoma
medulloblastoma
  • mdb
chromosome 3q29 deletion syndrome
  • microdeletion 3q29 syndrome
maturity-onset diabetes of the young
  • mody
- elite association - COSMIC cancer census association via MalaCards
Search HES1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HES1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HES1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HES1 Gene

Publications for HES1 Gene

  1. HES1 is a novel interactor of the Fanconi anemia core complex. (PMID: 18550849) Tremblay CS … Carreau M (Blood 2008) 3 4 23 56
  2. Genomic cloning and chromosomal localization of HRY, the human homolog to the Drosophila segmentation gene, hairy. (PMID: 8020957) Feder JN … Jan YN (Genomics 1994) 2 3 4 56
  3. Aberrant expression of Notch signaling molecules in patients with immune thrombocytopenic purpura. (PMID: 19603167) Ma D … Hou M (Annals of hematology 2010) 3 23 56
  4. The expressions of bHLH gene HES1 and HES5 in advanced ovarian serous adenocarcinomas and their prognostic significance: a retrospective clinical study. (PMID: 20091184) Wang X … Xie X (Journal of cancer research and clinical oncology 2010) 3 23 56
  5. Hes1 immortalizes committed progenitors and plays a role in blast crisis transition in chronic myelogenous leukemia. (PMID: 19861684) Nakahara F … Chiba S (Blood 2010) 3 23 56

ExternalLinks

View latest publications for HES1 gene in Mastermind

Products for HES1 Gene

  • Addgene plasmids for HES1

Sources for HES1 Gene