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FLASH GENE
Symbol TBCE contributors: mct/npt - updated : 23-11-2016
HGNC name tubulin folding cofactor E
HGNC id 11582
Corresponding disease
EDSMA Early-Onset Encephalopathy with Distal Spinal Muscular Atrophy
HRD hypoparathyroidism-retardation-dysmorphism syndrome
KCS Kenny-Caffey syndrome
Location 1q42.3      Physical location : 235.530.727 - 235.612.280
Synonym name
  • tubulin-specific chaperone e
  • beta-tubulin cofactor E
  • Synonym symbol(s) PAC2, KCS1, HRD, KCS, KCS1
    DNA
    TYPE functioning gene
    STRUCTURE 81.61 kb     17 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    KCNK1 1q42-q43 potassium channel, subfamily K, member 1 SLC35F3 1q42.3 solute carrier family 35, member F3 LOC148640 1q42.3 similar to ribosomal protein S15 LOC388753 1 similar to RIKEN cDNA 1810063B05 TARBP1 1q42.3 TAR (HIV) RNA binding protein 1 IRF2BP2 1q42.3 interferon regulatory factor 2 binding protein 2 LOC284527 1q42.3 hypothetical gene supported by BC016972 TOMM20 1q42 hypothetical gene supported by BC016972 KIAA0117 1q42.3 KIAA0117 protein RBP1L1 1q42.1-q43 retinoblastoma binding protein 1-like 1 GGPS1 1q43 geranylgeranyl diphosphate synthase 1 TBCE 1q42.3 tubulin-specific chaperone e MGC39558 1q42.3 hypothetical protein MGC39558 GNG4 1q42.3 guanine nucleotide binding protein (G protein), gamma 4 CHS1 1q42.1-q42.2 Chediak-Higashi syndrome 1 NID 1q43 nidogen (enactin) LOC343508 1q42.3 similar to aconitase 2 TM7SF1 1q42-q43 transmembrane 7 superfamily member 1 (upregulated in kidney) ERO1LB 1q42.2-q43 ERO1-like beta (S. cerevisiae) EDARADD 1q42.3 EDAR-associated death domain ENO1P 1q41-q42 enolase 1, (alpha) pseudogene LGALS8 1q42-q43 lectin, galactoside-binding, soluble, 8 (galectin 8) FLJ10359 1q42.3 protein BAP28 ACTN2 1q42-q43 actinin, alpha 2 MTR 1q43 5-methyltetrahydrofolate-homocysteine methyltransferase LOC388754 1 similar to 60S ribosomal protein L35 RYR2 1q42.1-q43 ryanodine receptor 2 (cardiac)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 1973 - 527 - 2015 25908846
    17 - 1925 - 527 - 2015 25908846
    18 - 2130 - 578 - 2015 25908846
    16 - 1948 - 414 - 2015 25908846
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   lowly
    Endocrinepancreas   lowly
    Nervousbrain   lowly
    Reproductivemale systemprostate  highly
    Respiratorylung   lowly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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