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Aliases for HES5 Gene

Aliases for HES5 Gene

  • Hes Family BHLH Transcription Factor 5 2 3 5
  • Class B Basic Helix-Loop-Helix Protein 38 3 4
  • Hairy And Enhancer Of Split 5 3 4
  • BHLHb38 3 4
  • Hairy And Enhancer Of Split 5 (Drosophila) 2

External Ids for HES5 Gene

Previous GeneCards Identifiers for HES5 Gene

  • GC01U900022
  • GC01M002495
  • GC01M002450
  • GC01M001739
  • GC01M002460

Summaries for HES5 Gene

Entrez Gene Summary for HES5 Gene

  • This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq, Dec 2008]

GeneCards Summary for HES5 Gene

HES5 (Hes Family BHLH Transcription Factor 5) is a Protein Coding gene. Diseases associated with HES5 include fetal valproate syndrome. Among its related pathways are Signaling by GPCR and Infectious disease. GO annotations related to this gene include chromatin binding and protein dimerization activity. An important paralog of this gene is HES4.

UniProtKB/Swiss-Prot for HES5 Gene

  • Transcriptional repressor of genes that require a bHLH protein for their transcription. Plays an important role as neurogenesis negative regulator (By similarity).

Gene Wiki entry for HES5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HES5 Gene

Genomics for HES5 Gene

Regulatory Elements for HES5 Gene

Genomic Location for HES5 Gene

Chromosome:
1
Start:
2,528,745 bp from pter
End:
2,530,245 bp from pter
Size:
1,501 bases
Orientation:
Minus strand

Genomic View for HES5 Gene

Genes around HES5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HES5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HES5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HES5 Gene

Proteins for HES5 Gene

  • Protein details for HES5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TA89-HES5_HUMAN
    Recommended name:
    Transcription factor HES-5
    Protein Accession:
    Q5TA89
    Secondary Accessions:
    • B9DI85

    Protein attributes for HES5 Gene

    Size:
    166 amino acids
    Molecular mass:
    18226 Da
    Quaternary structure:
    • Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family.

neXtProt entry for HES5 Gene

Proteomics data for HES5 Gene at MOPED

Post-translational modifications for HES5 Gene

  • Ubiquitination at Lys 134
  • Modification sites at PhosphoSitePlus

Other Protein References for HES5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for HES5 Gene

Domains & Families for HES5 Gene

Gene Families for HES5 Gene

Protein Domains for HES5 Gene

Suggested Antigen Peptide Sequences for HES5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5TA89

UniProtKB/Swiss-Prot:

HES5_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.
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Contains 1 Orange domain.
genes like me logo Genes that share domains with HES5: view

Function for HES5 Gene

Molecular function for HES5 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor of genes that require a bHLH protein for their transcription. Plays an important role as neurogenesis negative regulator (By similarity).

Gene Ontology (GO) - Molecular Function for HES5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003690 double-stranded DNA binding IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with HES5: view
genes like me logo Genes that share phenotypes with HES5: view

Animal Models for HES5 Gene

MGI Knock Outs for HES5:

Animal Model Products

miRNA for HES5 Gene

miRTarBase miRNAs that target HES5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HES5 Gene

Localization for HES5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HES5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HES5 Gene COMPARTMENTS Subcellular localization image for HES5 gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for HES5 Gene

Pathways & Interactions for HES5 Gene

genes like me logo Genes that share pathways with HES5: view

Gene Ontology (GO) - Biological Process for HES5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0002062 NOT chondrocyte differentiation ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006461 protein complex assembly IEA,ISS --
genes like me logo Genes that share ontologies with HES5: view

No data available for SIGNOR curated interactions for HES5 Gene

Drugs & Compounds for HES5 Gene

No Compound Related Data Available

Transcripts for HES5 Gene

mRNA/cDNA for HES5 Gene

(3) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HES5 Gene

Hairy and enhancer of split 5 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HES5 Gene

No ASD Table

Relevant External Links for HES5 Gene

GeneLoc Exon Structure for
HES5
ECgene alternative splicing isoforms for
HES5

Expression for HES5 Gene

mRNA expression in normal human tissues for HES5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HES5 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x4.8), Brain - Amygdala (x4.4), and Brain - Hypothalamus (x4.1).

SOURCE GeneReport for Unigene cluster for HES5 Gene Hs.57971

mRNA Expression by UniProt/SwissProt for HES5 Gene

Q5TA89-HES5_HUMAN
Tissue specificity: Expressed in fetal heart and brain tumors.
genes like me logo Genes that share expression patterns with HES5: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for HES5 Gene

Orthologs for HES5 Gene

This gene was present in the common ancestor of animals.

Orthologs for HES5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HES5 35
  • 89.84 (n)
  • 90.85 (a)
HES5 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HES5 35
  • 90.1 (n)
  • 90.3 (a)
HES5 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hes5 35
  • 84.74 (n)
  • 83.73 (a)
Hes5 16
Hes5 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HES5 35
  • 90.1 (n)
  • 86.67 (a)
HES5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hes5 35
  • 85.14 (n)
  • 83.73 (a)
oppossum
(Monodelphis domestica)
Mammalia HES5 36
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves HES5 35
  • 69.23 (n)
  • 66.03 (a)
HES5 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HES5 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hes5 35
  • 64.12 (n)
  • 63.56 (a)
Str.11260 35
African clawed frog
(Xenopus laevis)
Amphibia MGC53782 35
zebrafish
(Danio rerio)
Actinopterygii hes5 35
LOC100149066 35
  • 65.25 (n)
  • 58.51 (a)
her2 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta E(spl) 36
  • 21 (a)
OneToMany
Her 36
  • 26 (a)
OneToMany
HLHm3 36
  • 15 (a)
OneToMany
HLHm5 36
  • 17 (a)
OneToMany
HLHm7 36
  • 20 (a)
OneToMany
HLHmbeta 36
  • 20 (a)
OneToMany
HLHmdelta 36
  • 20 (a)
OneToMany
HLHmgamma 36
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lin-22 36
  • 21 (a)
OneToOne
Species with no ortholog for HES5:
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for HES5 Gene

ENSEMBL:
Gene Tree for HES5 (if available)
TreeFam:
Gene Tree for HES5 (if available)

Paralogs for HES5 Gene

Paralogs for HES5 Gene

(2) SIMAP similar genes for HES5 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with HES5: view

Variants for HES5 Gene

Sequence variations from dbSNP and Humsavar for HES5 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2494603 -- 2,531,379(+) CTGAG(C/T)GCCCG upstream-variant-2KB
rs10910087 -- 2,531,396(+) CTTTG(A/G)GGCAA upstream-variant-2KB
rs11583602 -- 2,531,975(+) TTGAA(A/G)GGGAC upstream-variant-2KB
rs12754187 -- 2,530,095(+) CCGGG(C/G)GAGTC intron-variant
rs34724951 -- 2,528,926(-) TGGCT(-/G)GGGCT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HES5 Gene

Variant ID Type Subtype PubMed ID
dgv64n71 CNV Loss 21882294
dgv71n71 CNV Loss 21882294
dgv72n71 CNV Loss 21882294
dgv75n71 CNV Loss 21882294
nsv470684 CNV Loss 18288195
dgv79n71 CNV Loss 21882294
dgv81n71 CNV Loss 21882294
nsv871726 CNV Loss 21882294
nsv870655 CNV Loss 21882294
nsv871912 CNV Gain 21882294
nsv871255 CNV Loss 21882294
nsv823920 CNV Gain 20364138
nsv818222 CNV Loss 17921354
nsv7171 OTHER Inversion 18451855
dgv82n71 CNV Loss 21882294
nsv824031 CNV Gain 20364138
dgv83n71 CNV Loss 21882294
dgv84n71 CNV Loss 21882294
nsv1 OTHER Inversion 15895083

Variation tolerance for HES5 Gene

Gene Damage Index Score: 1.84; 34.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HES5 Gene

HapMap Linkage Disequilibrium report
HES5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HES5 Gene

Disorders for HES5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HES5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fetal valproate syndrome
  • fetal valproic acid syndrome
- elite association - COSMIC cancer census association via MalaCards
Search HES5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HES5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HES5
genes like me logo Genes that share disorders with HES5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HES5 Gene

Publications for HES5 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 67
  2. HES5 is a key mediator of Wnt-3a-induced neuronal differentiation. (PMID: 24548083) MuA9mann C. … Frech M.J. (Stem Cells Dev. 2014) 3
  3. Epigenetic inactivation of Notch-Hes pathway in human B-cell acute lymphoblastic leukemia. (PMID: 23637910) Kuang S.Q. … Garcia-Manero G. (PLoS ONE 2013) 3
  4. Fbw7 repression by hes5 creates a feedback loop that modulates Notch-mediated intestinal and neural stem cell fate decisions. (PMID: 23776410) Sancho R. … Behrens A. (PLoS Biol. 2013) 3
  5. Immunohistochemical expression of Notch signaling in the lining epithelium of periapical cysts. (PMID: 21238798) Meliou E. … Kiaris H. (J Endod 2011) 3

Products for HES5 Gene

Sources for HES5 Gene

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