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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
  • 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 medulloblastoma and chromosome 3q29 microdeletion syndrome. Among its related pathways are Fanconi anemia pathway and Regulation of beta-cell development. 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around HES1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for HES1 Gene at MOPED

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.
genes like me logo Genes that share phenotypes with HES1: view

Animal Models for HES1 Gene

MGI Knock Outs for HES1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for HES1 Gene COMPARTMENTS Subcellular localization image for HES1 gene
Compartment Confidence
nucleus 5
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for HES1 Gene

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:0001889 liver development IEA --
GO:0003143 embryonic heart tube morphogenesis IEA,ISS --
GO:0003151 outflow tract morphogenesis IEA,ISS --
GO:0003266 regulation of secondary heart field cardioblast proliferation IEA --
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:

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 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



SOURCE GeneReport for Unigene cluster for HES1 Gene Hs.250666

genes like me logo Genes that share expression patterns with HES1: view

Protein tissue co-expression partners for HES1 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia HES1 35
  • 93.81 (n)
  • 99.64 (a)
HES1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hes1 35
  • 89.76 (n)
  • 94.64 (a)
Hes1 16
Hes1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HES1 35
  • 99.88 (n)
  • 100 (a)
HES1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hes1 35
  • 90.71 (n)
  • 95.71 (a)
oppossum
(Monodelphis domestica)
Mammalia HES1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HES1 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHAIRY-1 36
  • 60 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 61 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hes1 35
  • 71.05 (n)
  • 77.82 (a)
Str.10866 35
African clawed frog
(Xenopus laevis)
Amphibia LOC397813 35
zebrafish
(Danio rerio)
Actinopterygii her6 35
  • 69.41 (n)
  • 76.78 (a)
her9 36
  • 62 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.686 35
fruit fly
(Drosophila melanogaster)
Insecta dpn 36
  • 22 (a)
ManyToMany
h 36
  • 28 (a)
ManyToMany
Side 36
  • 18 (a)
ManyToMany
Species with no ortholog for HES1:
  • 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
rs2368048 -- 194,137,172(+) ACTCT(C/T)GCGTT intron-variant
rs2005634 -- 194,137,278(+) CGGGT(A/C)GGGGC intron-variant
rs6770388 -- 194,134,451(+) gcgAA(A/G)CCGCT upstream-variant-2KB
rs7629144 -- 194,138,131(+) CCCGT(C/T)TACAC reference, synonymous-codon
rs11541816 -- 194,136,693(+) GATTT(G/T)GGATG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv878126 CNV Loss 21882294
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)

Relevant External Links for HES1 Gene

HapMap Linkage Disequilibrium report
HES1

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

Disorders for HES1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
medulloblastoma
  • medulloblastoma, desmoplastic
chromosome 3q29 microdeletion syndrome
  • 3q subtelomere deletion 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. 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 67
  2. Aberrant expression of Notch signaling molecules in patients with immune thrombocytopenic purpura. (PMID: 19603167) Ma D. … Hou M. (Ann. Hematol. 2010) 3 23
  3. 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
  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. (J. Cancer Res. Clin. Oncol. 2010) 3 23
  5. IkappaBalpha regulates Hes1 in osteoclast differentiation and resorption. (PMID: 20515776) Duan L. … Ren Y. (Front Biosci (Elite Ed) 2010) 3 23

Products for HES1 Gene

Sources for HES1 Gene

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