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FLASH GENE
Symbol TBL1X contributors: mct - updated : 01-09-2020
HGNC name transducin (beta)-like 1X-linked
HGNC id 11585
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a LISH motif
  • a tetrameric oligomerization domain, which interacts with both NCOR2 and GPS2
  • six WD-40 repeats, (beta transducin domain) in the C terminal region
    • mono polymer heteromer , trimer
    HOMOLOGY
    Homologene
    FAMILY WD repeat family
    CATEGORY regulatory , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • involved in the degradation of beta catenin protein in a novel ubiquitin-dependent degradation pathway
  • playing an essential role in transcription activation mediated by nuclear receptors
  • acting as a corepressor/coactivator exchanger for several nuclear receptors and transcription factors
  • TBL1X and its highly related family member TBL1XR1 were required for Wnt-beta-catenin-mediated transcription
  • is in the Wnt signaling pathway, which has previously been implicated as having a role in autism
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction , sensory transduction/hearing , sensory transduction/vision
    a component
  • core repression complex involves the recruitment of three proteins, HDAC3, GPS2 and TBL1X, to a highly conserved repression domain within NCOR2 and NCOR
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TBL1X interacts with both NCOR2 and GPS2
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OASD , CHNG8
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS