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FLASH GENE
Symbol SIX5 contributors: - updated : 16-04-2007
HGNC name sine oculis homeobox homolog 5 (Drosophila)
HGNC id 10891
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • three major transcription initiation sites, one (proximal) specific to early embryo, the other two common among adult heart and muscle
  • a Six domain
  • a helix-turn-helix, DNA (homeo) binding domain
    • HOMOLOGY
    interspecies homolog to Drosophila sine oculis homeo box SIX5
    homolog to rattus Six5 (86.72 pc)
    homolog to murine Six5 (87.90 pc)
    intraspecies homolog to AREC3 (muscle-specific transcription factor)
    Homologene
    FAMILY six class of homeobox
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • potentially involved in the development of adult onset cataracts of DM
  • regulating genes involved in myoblast fusion and the germline soma interaction (muscle and gonads development
  • required for spermatogenic cell survival and spermiogenesis
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein IGFBP5 (playing a role in pathogenesis of myotonic dystrophy)
    cell & other
    REGULATION
    inhibited by CTG repeat expansion in myotonic dystrophy
    ASSOCIATED DISORDERS
    corresponding disease(s) BOR2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in dystrophia myotonica
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS