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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)
    Physical map
    FLJ46675 17p13.2 FLJ46675 protein KIAA0346 17p13.1-p12 FLJ46675 protein LOC92162 17p13.2 similar to RIKEN cDNA 2600017H02 MGC14151 17p13.2 hypothetical protein MGC14151 FLJ32499 17p13.2 hypothetical protein FLJ32499 LOC388331 17 LOC388331 KCNAB3 17p13.1 potassium voltage-gated channel, shaker-related subfamily, beta member 3 TRAPPC1 17p13.1 trafficking protein particle complex 1 LIP8 17p13.2 LYST-interacting protein LIP8 GUCY2D 17p13.1 guanylate cyclase 2D, membrane (retina-specific) ALOX15B 17p13.1 arachidonate 15-lipoxygenase, second type LOC388332 17 similar to Gag protein ALOX12B 17p13.1 arachidonate 12-lipoxygenase, 12R type ALOXE3 17p13.1 arachidonate lipoxygenase 3 HES7 17p13.1 hairy and enhancer of split 7 (Drosophila) PER1 17p13.1-p12 period homolog 1 (Drosophila) VAMP2 17p13.1-p12 vesicle-associated membrane protein 2 (synaptobrevin 2) MGC10744 17p13.1 hypothetical protein MGC10744 FLJ20014 17p13.1 hypothetical protein FLJ20014 AURKB 17p13.1 aurora kinase B FLJ34790 17p13.1 hypothetical protein FLJ34790 FLJ22170 17p13.1 hypothetical protein FLJ22170 PFAS 17p13 phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) RANGNRF 17p13 RAN guanine nucleotide release factor ARHGEF15 17p12 Rho guanine nucleotide exchange factor (GEF) 15 ODF4 17p12 outer dense fiber of sperm tails 4 LOC124751 17p13.1 hypothetical protein LOC124751 RPL26 17p13 ribosomal protein L26 LOC390761 17 similar to RIKEN cDNA 9930039A11 gene NDEL1 17p13.1 nudE nuclear distribution gene E homolog like 1 (A. nidulans)
    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