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FLASH GENE
Symbol HES7 contributors: mct/npt - updated : 19-02-2010
HGNC name hairy and enhancer of split 7 (Drosophila)
HGNC id 15977
Corresponding disease
SCDO4 spondylocostal dysostosis, type 4
Location 17p13.1      Physical location : 8.023.907 - 8.027.410
Synonym name
  • bHLH factor Hes7
  • transcription factor HES-7
  • Synonym symbol(s) bHLHb37
    DNA
    TYPE functioning gene
    STRUCTURE 3.10 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D17S2010 - D17S655 - HES7 - D17S1773 - D17S1556 - cen
    Authors UCSC (2009)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1286 24.9 225 - Olsen (2006)
    - - 1699 - 230 - Olsen (2006)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemovary   
     female systemuteruscervix  
     male systemprostate   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text expressed in a cyclical fashion in presomitic mesoderm (coinciding with each pair of somites)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal conserved basic helix-loop-helix (bHLH) domain with lysine residues (K22, K52, and K55) that are essential not only for the instability of the protein but also for its transcriptional repressor activity (Ishii 2008)
  • one ORANGE domain
  • a C-terminal tetrapeptide (WRPW) that interacts with transcriptional co-repressors of the Groucho family (Sparrow 2008)
  • HOMOLOGY
    interspecies ortholog to murine Hes7
    Homologene
    FAMILY
    CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing a role in somite formation under the control of NOTCH signalling
  • regulates the periodic somite formation (Ishii 2008)
  • bHLH-Orange domain transcriptional repressor protein that is both a direct target of the Notch signaling pathway, and part of a negative feedback mechanism required to attenuate Notch signaling (Sparrow 2008)
  • involved in the developmental regulation of neurogenesis, vasculogenesis, cardiogenesis and cancer (Sparrow 2008)
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text repression of transcription from the N box and E box containing promoters
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • direct target of the Notch signaling pathway, and part of a negative feedback mechanism required to attenuate Notch signaling (Sparrow 2008)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCDO4
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS