HES3 Gene (Protein Coding)

Hes Family BHLH Transcription Factor 3

GC01P006244
GIFtS:
31
See more...

Aliases for HES3 Gene

Aliases for HES3 Gene

  • Hes Family BHLH Transcription Factor 3 2 3 5
  • BHLHb43 2 3 4
  • Class B Basic Helix-Loop-Helix Protein 43 3 4
  • Hairy And Enhancer Of Split 3 3 4
  • Transcription Factor HES-3 3 4
  • Hairy And Enhancer Of Split 3 (Drosophila) 2
  • BHLHB43 4
  • HES3 5

External Ids for HES3 Gene

Previous GeneCards Identifiers for HES3 Gene

  • GC01P006237
  • GC01P006304
  • GC01P005452

Summaries for HES3 Gene

GeneCards Summary for HES3 Gene

HES3 (Hes Family BHLH Transcription Factor 3) is a Protein Coding gene. Diseases associated with HES3 include Chromosome 1P36 Deletion Syndrome. Among its related pathways are Notch Signaling Pathway (sino) and PI3K-Akt signaling pathway. Gene Ontology (GO) annotations related to this gene include transcription factor binding and protein dimerization activity. An important paralog of this gene is HES1.

UniProtKB/Swiss-Prot Summary for HES3 Gene

  • Transcriptional repressor of genes that require a bHLH protein for their transcription.

Additional gene information for HES3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HES3 Gene

Genomics for HES3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for HES3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J006246 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 250.7 +1.3 1316 3 TBP ZBTB10 MXD4 CEBPA DEK ZFP64 CTCF BHLHE40 ELF1 NONO HES3 GPR153 THAP3 NOL9 ICMT lnc-ACOT7-2
GH01J006412 Promoter/Enhancer 1.2 Ensembl ENCODE 11.7 +170.8 170819 4.3 SP1 MXD4 BCL11A CEBPA DEK MNT ZFP64 CTCF BHLHE40 ZIC2 RF00017-020 ESPN RNF207 ICMT HES3 LINC00337 PLEKHG5 RNF207-AS1 RPL22 CAMTA1
GH01J006218 Enhancer 1 Ensembl ENCODE dbSUPER 12.2 -23.8 -23753 3.2 ZNF217 POLR2A SIX4 MBD2 CTBP1 SIN3A RBM22 ZNF316 JUND SMARCE1 ICMT HES3 CHD5 LINC00337 NONHSAG000233.2 lnc-RPL22-2 RNF207 RPL22
GH01J006222 Enhancer 0.7 Ensembl ENCODE dbSUPER 12.2 -21.3 -21256 1.8 ZBTB33 POLR2A lnc-RPL22-2 ICMT HES3 CHD5 LINC00337 NONHSAG000233.2 RPL22
GH01J006220 Enhancer 0.3 Ensembl dbSUPER 12.2 -25.5 -25478 0.2 HES3 CHD5 NONHSAG000233.2 lnc-RPL22-2 RPL22 RNF207 ICMT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HES3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HES3

Top Transcription factor binding sites by QIAGEN in the HES3 gene promoter:
  • ARP-1
  • c-Myc
  • Max1
  • NRSF form 1
  • NRSF form 2
  • STAT3

Genomic Locations for HES3 Gene

Latest Assembly
chr1:6,244,179-6,245,578
(GRCh38/hg38)
Size:
1,400 bases
Orientation:
Plus strand

Previous Assembly
chr1:6,304,239-6,305,638
(GRCh37/hg19 by Entrez Gene)
Size:
1,400 bases
Orientation:
Plus strand

chr1:6,304,252-6,305,638
(GRCh37/hg19 by Ensembl)
Size:
1,387 bases
Orientation:
Plus strand

Genomic View for HES3 Gene

Genes around HES3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HES3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HES3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HES3 Gene

Proteins for HES3 Gene

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  • Protein details for HES3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TGS1-HES3_HUMAN
    Recommended name:
    Transcription factor HES-3
    Protein Accession:
    Q5TGS1
    Secondary Accessions:
    • Q5TGS0

    Protein attributes for HES3 Gene

    Size:
    186 amino acids
    Molecular mass:
    19968 Da
    Quaternary structure:
    • Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family.

neXtProt entry for HES3 Gene

Protein Expression for HES3 Gene

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

Post-translational modifications for HES3 Gene

No Post-translational modifications

Other Protein References for HES3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HES3 Gene

Domains & Families for HES3 Gene

Gene Families for HES3 Gene

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

Protein Domains for HES3 Gene

InterPro:
Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
ProtoNet:

Suggested Antigen Peptide Sequences for HES3 Gene

GenScript: Design optimal peptide antigens:
  • Hairy and enhancer of split 3 (HES3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5TGS1

UniProtKB/Swiss-Prot:

HES3_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.
genes like me logo Genes that share domains with HES3: view

Function for HES3 Gene

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  3. miRNA products for research
  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for HES3 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor of genes that require a bHLH protein for their transcription.

Phenotypes From GWAS Catalog for HES3 Gene

Gene Ontology (GO) - Molecular Function for HES3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IEA --
GO:0008134 transcription factor binding NAS 17611704
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with HES3: view
genes like me logo Genes that share phenotypes with HES3: view

Animal Models for HES3 Gene

MGI Knock Outs for HES3:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HES3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for HES3 Gene

Localization for HES3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HES3 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 HES3 gene
Compartment Confidence
nucleus 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HES3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with HES3: view

Pathways & Interactions for HES3 Gene

PathCards logo

SuperPathways for HES3 Gene

genes like me logo Genes that share pathways with HES3: view

Pathways by source for HES3 Gene

1 Sino Biological pathway for HES3 Gene
1 KEGG pathway for HES3 Gene

Interacting Proteins for HES3 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000367130 for HES3 Gene via STRING

GPS-Prot Interaction Network for HES3

Gene Ontology (GO) - Biological Process for HES3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007219 Notch signaling pathway IBA 21873635
GO:0009952 anterior/posterior pattern specification IBA 21873635
GO:0045665 negative regulation of neuron differentiation IBA 21873635
GO:0045892 negative regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with HES3: view

No data available for SIGNOR curated interactions for HES3 Gene

Drugs & Compounds for HES3 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for HES3 Gene

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mRNA/cDNA for HES3 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HES3

Alternative Splicing Database (ASD) splice patterns (SP) for HES3 Gene

No ASD Table

Relevant External Links for HES3 Gene

GeneLoc Exon Structure for
HES3

Expression for HES3 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HES3 Gene

mRNA expression in normal human tissues for HES3 Gene
mRNA expression by GTEx for HES3 GenemRNA expression by BioGPS for HES3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HES3 Gene

This gene is overexpressed in Testis (x27.1), Brain - Spinal cord (cervical c-1) (x6.9), Brain - Amygdala (x5.6), Brain - Substantia nigra (x5.2), and Brain - Cerebellum (x4.2).

Protein differential expression in normal tissues from HIPED for HES3 Gene

This gene is overexpressed in Synovial fluid (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HES3 Gene



Protein tissue co-expression partners for HES3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HES3

SOURCE GeneReport for Unigene cluster for HES3 Gene:

Hs.532677
genes like me logo Genes that share expression patterns with HES3: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HES3 Gene

Orthologs for HES3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HES3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia HES3 30 31
  • 99.56 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia HES3 30 31
  • 81.14 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia HES3 30 31
  • 80.9 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Hes3 30 17 31
  • 74.48 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Hes3 30
  • 74.1 (n)
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia hes3 30
  • 66.28 (n)
Zebrafish
(Danio rerio)
 Actinopterygii her3 31
  • 27 (a)
 OneToOne
Species where no ortholog for HES3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 HES3 Gene

ENSEMBL:
Gene Tree for HES3 (if available)
TreeFam:
Gene Tree for HES3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HES3: view image

Paralogs for HES3 Gene

Paralogs for HES3 Gene

(2) SIMAP similar genes for HES3 Gene using alignment to 1 proteins:

  • HES3_HUMAN
genes like me logo Genes that share paralogs with HES3: view

Variants for HES3 Gene

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  1. SNP Genotyping and Copy Number Assays for research

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HES3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HES3 Gene

Variant ID Type Subtype PubMed ID
dgv8n67 CNV gain 20364138
nsv508825 CNV insertion 20534489
nsv545236 CNV loss 21841781
nsv545237 CNV loss 21841781
nsv831425 CNV loss 17160897

Variation tolerance for HES3 Gene

Gene Damage Index Score: 3.83; 58.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HES3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HES3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HES3 Gene

Disorders for HES3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HES3 Gene - From: COP

Disorder Aliases PubMed IDs
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
- elite association - COSMIC cancer census association via MalaCards
Search HES3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HES3

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HES3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HES3 Gene

Publications for HES3 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  2. Identification and characterization of human HES2, HES3, and HES5 genes in silico. (PMID: 15254753) Katoh M … Katoh M (International journal of oncology 2004) 3 4
  3. Hes3 Enhances the Malignant Phenotype of Lung Cancer through Upregulating Cyclin D1, Cyclin D3 and MMP7 Expression. (PMID: 30911281) Fang C … Fan C (International journal of medical sciences 2019) 3
  4. PAX3-FOXO1 transgenic zebrafish models identify HES3 as a mediator of rhabdomyosarcoma tumorigenesis. (PMID: 29869612) Kendall GC … Amatruda JF (eLife 2018) 3
  5. STAT3-Ser/Hes3 Signaling: A New Molecular Component of the Neuroendocrine System? (PMID: 26783739) Nikolakopoulou P … Androutsellis-Theotokis A (Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2016) 3

ExternalLinks

View latest publications for HES3 gene in Mastermind

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