Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
    Physical map
    MGC13090 17q25.3 hypothetical protein MGC13090 MAFG 17q25 v-maf musculoaponeurotic fibrosarcoma oncogene homolog G (avian) LOC92659 17q25.3 hypothetical protein BC009233 PYCR1 17q25.3 pyrroline-5-carboxylate reductase 1 LOC255275 17q25.3 similar to myeloid-associated differentiation marker LOC147111 17q25.3 hypothetical protein LOC147111 ASPSCR1 17q25 alveolar soft part sarcoma chromosome region, candidate 1 STRA13 17q25.3 stimulated by retinoic acid 13 MGC20806 17q25.3 hypothetical protein MGC20806 RAC3 10q25.3 ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) DCXR 17q25.3 dicarbonyl/L-xylulose reductase GPS1 17q25.3 G protein pathway suppressor 1 PP3111 17q25.3 PP3111 protein FASN 17q25 fatty acid synthase FLJ23754 17q25.3 hypothetical protein FLJ23754 LOC284001 17q25.3 hypothetical protein LOC284001 SLC16A3 17q25 solute carrier family 16 (monocarboxylic acid transporters), member 3 LOC388434 17 LOC388434 CSNK1D 17q25.2-q25.3 casein kinase 1, delta CD7 17q25.2-q25.3 CD7 antigen (p41) SECTM1 17q25.2-q25.3 secreted and transmembrane 1 GPR14 17q25.3 G protein-coupled receptor 14 FLJ22222 17q25.3 hypothetical protein FLJ22222 FLJ23825 17q25.3 hypothetical protein FLJ23825 MGC4368 17q25.3 hypothetical protein MGC4368 NARF 17q25.3 nuclear prelamin A recognition factor ILF1 17q25.2 interleukin enhancer binding factor 1 PRO0478 17q25.3 PRO0478 protein DKFZp434D1428 17q25.3 hypothetical protein DKFZp434D1428 LOC56270 17q25.3 hypothetical protein 628 RAB40B 17q25.3 RAB40B, member RAS oncogene family FLJ12171 FN3K 17q25.3 RAB40B, member RAS oncogene family TBCD 17q25.3 tubulin-specific chaperone d FLJ13841 17q25.3 hypothetical protein FLJ13841 LOC146712 17q25.3 hypothetical protein LOC146712 LOC284207 17q25.3 hypothetical protein LOC284207
    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