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FLASH GENE
Symbol RIPPLY3 contributors: mct - updated : 24-06-2013
HGNC name ripply3 homolog (zebrafish)
HGNC id 3047
Location 21q22.13      Physical location : -
Synonym name
  • protein ripply3
  • Down syndrome critical region gene 6
  • Synonym symbol(s) DSCR6
    DNA
    TYPE functioning gene
    STRUCTURE 13.10 kb     4 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 initiation site 2260 - 190 only in fetal kidney 2000 10814524
  • DSCR6a
  • lacking 84AA N terminal
  • - initiation site 2030 - 106 detected in fetal kidney and fetal brain 2000 10814524
    - initiation site 1910 - 106 - 2000 10814524
    - initiation site 1890 - 106 - 2000 10814524
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text lowly in fetal kidney and fetal brain
    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