Free for academic non-profit institutions. Other users need a Commercial license

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
  • 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
  • Transcription Factor HES-1 3
  • 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 Chromosome 3Q29 Deletion Syndrome and Maturity-Onset Diabetes Of The Young. Among its related pathways are HIV Life Cycle and Notch signaling pathway (KEGG). GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is HES4.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HES1 Gene

Genomics for HES1 Gene

Regulatory Elements for HES1 Gene

Enhancers for HES1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F194085 1.8 FANTOM5 Ensembl ENCODE 14.4 -47.2 -47202 6.1 PKNOX1 ARNT CREB3L1 ARID4B FEZF1 DMAP1 ZNF2 FOS ZNF263 JUNB HES1 ATP13A3 ENSG00000232874 ENSG00000229964 LINC02028
GH03F193868 1.8 FANTOM5 Ensembl ENCODE 11 -264.1 -264141 7.2 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 LSG1 ENSG00000232874 HES1 LRRC15 LOC105374286 LINC02038
GH03F193970 1.6 FANTOM5 Ensembl ENCODE 11.7 -164.8 -164842 1.8 ATF1 PKNOX1 ARNT CREB3L1 ZFP64 ZNF493 ZNF121 ZNF766 GATA2 ZNF302 LSG1 ENSG00000232874 HES1 OPA1-AS1 GP5 ENSG00000272707 ATP13A3 OPA1 ENSG00000238043 LOC105374287
GH03F194264 1.5 FANTOM5 Ensembl ENCODE 12.1 +131.9 131876 8.0 CBX3 SIN3A NFXL1 RAD21 RARA YY1 ZNF366 SCRT2 EGR2 SMARCA5 ENSG00000232874 HES1 GP5 FAM43A TMEM44 LINC02048 LINC02036
GH03F194211 1.6 VISTA Ensembl ENCODE 10.3 +76.6 76621 2.4 PKNOX1 NFRKB ETV1 TEAD4 CEBPG ZBTB40 RAD21 GATA3 POLR2A NFE2 ENSG00000232874 HES1 CPN2 GC03P194205 LINC02037
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HES1 on UCSC Golden Path with GeneCards custom track

Promoters for HES1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001383190 158 5001 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC

Genomic Location for HES1 Gene

Chromosome:
3
Start:
194,136,142 bp from pter
End:
194,138,732 bp from pter
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 StructureGene Density

RefSeq DNA sequence for HES1 Gene

Proteins for HES1 Gene

  • 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

Post-translational modifications for HES1 Gene

  • Ubiquitination at Lys 86 and Lys 109
  • Modification sites at PhosphoSitePlus

Other Protein References for HES1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HES1 Gene

Domains & Families for HES1 Gene

Gene Families for HES1 Gene

Protein Domains for HES1 Gene

Suggested Antigen Peptide Sequences for HES1 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Contains 1 Orange domain.
genes like me logo Genes that share domains with HES1: view

Function for HES1 Gene

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.

Gene Ontology (GO) - Molecular Function for HES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA --
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA,ISS --
GO:0003677 DNA binding TAS 7906273
GO:0003700 transcription factor activity, sequence-specific DNA binding IDA 17681138
GO:0005515 protein binding IPI 12535671
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HES1

Flow Cytometry Products

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

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

Gene Ontology (GO) - Cellular Components for HES1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus 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:

Gene Ontology (GO) - Biological Process for HES1 Gene

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

Drugs & Compounds for HES1 Gene

(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

mRNA/cDNA for HES1 Gene

Unigene Clusters for HES1 Gene

Hairy and enhancer of split 1, (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for HES1

Flow Cytometry Products

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, PaxDb, 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
genes like me logo Genes that share expression patterns with HES1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.88 (n)
cow
(Bos Taurus)
Mammalia HES1 34 35
  • 93.81 (n)
rat
(Rattus norvegicus)
Mammalia Hes1 34
  • 90.71 (n)
mouse
(Mus musculus)
Mammalia Hes1 34 16 35
  • 89.76 (n)
oppossum
(Monodelphis domestica)
Mammalia HES1 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HES1 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHAIRY-1 35
  • 60 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 61 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hes1 34
  • 71.05 (n)
Str.10866 34
African clawed frog
(Xenopus laevis)
Amphibia LOC397813 34
zebrafish
(Danio rerio)
Actinopterygii her6 34
  • 69.41 (n)
her9 35
  • 62 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.686 34
fruit fly
(Drosophila melanogaster)
Insecta h 35
  • 28 (a)
ManyToMany
dpn 35
  • 22 (a)
ManyToMany
Side 35
  • 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)

Paralogs for HES1 Gene

Paralogs for HES1 Gene

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

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

Variants for HES1 Gene

Sequence variations from dbSNP and Humsavar for HES1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs112278954 -- 194,136,360(+) GAGAT(A/T)AAAAA utr-variant-5-prime
rs112644339 -- 194,136,960(+) ATGCA(G/T)AGCTC splice-acceptor-variant
rs112770159 -- 194,136,261(+) CCCTC(A/G)GCACT utr-variant-5-prime
rs113839026 -- 194,137,472(+) GCTAC(A/G)GGGAA intron-variant
rs114479819 -- 194,136,189(+) TCCCC(C/T)GTCTA utr-variant-5-prime

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

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

Relevant External Links for HES1 Gene

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

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

Disorders for HES1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HES1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chromosome 3q29 deletion syndrome
  • chromosome 3q29 microdeletion syndrome
maturity-onset diabetes of the young
  • mason-type diabetes
- elite association - COSMIC cancer census association via MalaCards
Search HES1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HES1

Genetic Association Database (GAD)
HES1
Human Genome Epidemiology (HuGE) Navigator
HES1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HES1
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 C.S. … Carreau M. (Blood 2008) 3 4 22 64
  2. Genomic cloning and chromosomal localization of HRY, the human homolog to the Drosophila segmentation gene, hairy. (PMID: 8020957) Feder J.N. … Jan Y.-N. (Genomics 1994) 2 3 4 64
  3. 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. (J. Cancer Res. Clin. Oncol. 2010) 3 22 64
  4. SOX9 mediates the retinoic acid-induced HES-1 gene expression in human breast cancer cells. (PMID: 19322650) MA1ller P. … StrAPm A. (Breast Cancer Res. Treat. 2010) 3 22 64
  5. Aberrant expression of Notch signaling molecules in patients with immune thrombocytopenic purpura. (PMID: 19603167) Ma D. … Hou M. (Ann. Hematol. 2010) 3 22 64

Products for HES1 Gene

Sources for HES1 Gene

Content
Loading form....