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FLASH GENE
Symbol KCTD17 contributors: mct - updated : 30-06-2015
HGNC name potassium channel tetramerisation domain containing 17
HGNC id 25705
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
BTB/POZ domain
HOMOLOGY
interspecies ortholog to murine Kctd17
Homologene
FAMILY KCTD family
CATEGORY transport channel
SUBCELLULAR LOCALIZATION     intracellular
intracellular,nucleus
basic FUNCTION
  • contributes to the ubiquitin-proteasome machinery, acting as an adaptor for the CUL3-RING E3 ligase and targeting substrates for degradation through polyubiquitinylation
  • involved in regulation of cellular proliferation, gene transcription, cytosketelon organization, protein degradation targeting via the ubiquitin-proteasome system, and regulation of G protein-coupled receptors
  • potential relevant contribution of KCTD17 to regulation of dopaminergic transmission in the putamen
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • KCTD17 is a substrate-adaptor for Cul3-RING E3 ligases (CRL3) that polyubiquitylates trichoplein, and CRL3-KCTD17 targets trichoplein to proteolysis to initiate the axoneme extension during ciliogenesis
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DYT26
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    specifically arrests ciliogenesis at the initial step of axoneme extension through aberrant trichoplein-Aurora-A activity
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS