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FLASH GENE
Symbol TBCE contributors: mct/npt - updated : 23-11-2016
HGNC name tubulin folding cofactor E
HGNC id 11582
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal CAP-Gly domain, a motif mediating protein binding to alpha-tubulin, followed by
  • nine tandemly arranged leucine-rich repeat (LRR) motifs,
  • a C-terminal ubiquitin-like domain possibly implicated in alpha-tubulin degradation via the proteasome
    • HOMOLOGY
    interspecies ortholog to murine Tbce
    Homologene
    FAMILY
  • TBCE family
    • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • peripheral membrane-associated protein that accumulates at the Golgi apparatus (Schaefer 2007)
  • is concentrated at the Golgi membrane in an Arf1-regulated manner and facilitates both nucleation rates and polymerization speed of Golgi-derived microtubules
    • basic FUNCTION
  • involved in the pathway leading to correctly folded beta-tubulin from folding intermediates and in maintenance of microtubule in motor axons
  • implicated in microtubule dynamics through regulation of tubulin heterodimer dissociation (Kortazar 2007)
  • tubulin chaperone with critical role in axonal tubulin routing from the Golgi apparatus (Schaefer 2007)
  • plays a critical role in the formation of the parathyroid opens (Parvari 2007)
  • required for the normal development and function of neuromuscular synapses and promotes microtubule formation (Jin 2009)
  • is required for the folding of alpha-tubulin, alpha/beta-tubulin dimerization, and subsequent heterodimer polymerization into microtubules, which are major components of the cytoskeleton
  • TBCD and TBCE are also capable of acting in a reverse reaction in which they disrupt native heterodimers
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • TBCE, TBCB and alpha-tubulin form a ternary complex after heterodimer dissociation, whereas the free beta-tubulin subunit is recovered by TBCA (Kortazar 2007)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ARF1/TBCE-mediated cross-talk that coordinates COPI formation and tubulin polymerization at the Golgi
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HRD , KCS , EDSMA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • gene defect in the pmn/pmn mouse is a missense mutation leading to a disturbance of tubulin structures in the auditory nerve and a progressive outer hair cell loss due to apoptosis with progressive hearing loss