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FLASH GENE
Symbol RIPPLY3 contributors: mct - updated : 24-06-2013
HGNC name ripply3 homolog (zebrafish)
HGNC id 3047
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a WRPW motif required for binding to tle/groucho proteins
  • a ripply homology domain required for transcriptional repression
  • HOMOLOGY
    interspecies homolog to rattus Dscr6 (70.8 pc)
    homolog to murine Ripply3 (70.5 pc)
    Homologene
    FAMILY
  • ripply family
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in transcriptional repression
  • can modulate TBX1 activity and plays a role in the development of the pharyngeal apparatus
  • acting downstream of RAR signaling, is a key player in establishing boundaries in the pre-placodal ectoderm
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • in the presence of RIPPLY3, TBX1 acts as a transcriptional repressor, and functions to restrict the positional expression of FGF8, a key regulator of pre-placodal ectoderm gene expression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Ripply3-deficient mice exhibit abnormal development of pharyngeal derivatives, including ectopic formation of the thymus and the parathyroid gland, as well as cardiovascular malformation