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FLASH GENE
Symbol TBCD contributors: mct/npt - updated : 24-11-2016
HGNC name tubulin-specific chaperone D
HGNC id 11581
Corresponding disease
PEBAT early-onset progressive encephalopathy with brain atrophy and thin corpus callosum
Location 17q25.3      Physical location : 80.709.939 - 80.901.060
Synonym name
  • beta-tubulin cofactor D
  • Synonym symbol(s) KIAA0988, SSD1, TFCD, SSD-1
    DNA
    TYPE functioning gene
    STRUCTURE 191.14 kb     39 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    39 - 4449 132.5 1192 - 2010 20740604
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiensAdult
     heart   highly Homo sapiensFetal
    Endocrinethyroid   highly
    Nervousbrain   highly Homo sapiensFetal
     brain   highly Homo sapiensAdult
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiensAdult
    Muscularstriatumskeletal   Homo sapiensFetal
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to bovine tubulin folding cofactor D
    Homologene
    FAMILY
  • TBCD family
  • CATEGORY chaperone/stress
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
    plasma membrane,junction,adherens
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • at the centrosome, TBCD is required for initiation of microtubule growth and organization of the mitotic spindle
  • both ARL2 and TBCD also localize to centrosomes
  • basic FUNCTION
  • modulator of microtubule dynamic by sequestering beta tubulin GTP bound heterodimers
  • involved in the pathway leading to correctly folded beta-tubulin from folding intermediates
  • with ARL2 participate in apical junctional complex disassembly and epithelial depolarization
  • playing a role D at centrosomes that is important to its function in polymerization of tubulin and organization of the mitotic spindle
  • plays a role in cells independent of its presumed role in folding tubulin heterodimers (pMID: 17704193)
  • ARL2 and TBCD participate in apical junctional complex (AJC), disassembly and epithelial depolarization
  • TBCD and TBCE are also capable of acting in a reverse reaction in which they disrupt native heterodimers
  • inability of TBCD to disrupt microtubule integrity upon overexpression can be overcome by siRNA-mediated suppression of expression of the TBCD regulator ARL2 (ADP ribosylation factor-like protein)
  • ARL2, and its cytosolic binding partner cofactor D (TBCD), is important in tubulin folding and microtubule dynamics
  • participate in centriolar and ciliary basal body assembly, strongly suggesting a more wider role in processes linked to microtubule nucleation
  • is a novel functional contributor to mammalian cerebral cortex development,
  • is also required for axon and dendrite maintenance in olfactory projection neurons (PNs)
  • co-chaperones required for assembly and disassembly of the alpha/beta-tubulin heterodimer, the structural unit of microtubules
  • role of TBCD in modulating stability and polymerization of microtubules
  • CELLULAR PROCESS protein, post translation, folding
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the complex of cofactors A to E leading to correctly folded beta tubulin
  • complexed with ARL2 and protein phosphatase 2A
  • TBCD is one of five tubulin-folding cofactors required for the formation of alpha- and beta-tubulin heterodimers
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TBCD physically interacts with the intracellular domain DSCAM, which is important for neural development and has been implicated in Down syndrome
  • ARL2-TBCD interaction is critical for proper maintenance of microtubule densities in cells
  • cell & other
    REGULATION
    Other ARF2 modulating the interaction of TBCD with native tubulin
    ASSOCIATED DISORDERS
    corresponding disease(s) PEBAT
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS