Property Summary

NCBI Gene PubMed Count 33
PubMed Score 219.10
PubTator Score 40.71

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
psoriasis -1.600 6.0e-05
osteosarcoma -1.860 1.8e-05
medulloblastoma, large-cell 1.200 2.3e-03
lung cancer 2.200 1.8e-05
group 3 medulloblastoma 1.200 1.8e-04
invasive ductal carcinoma 1.200 3.0e-03
ovarian cancer 1.400 1.3e-03

 GWAS Trait (1)

Protein-protein Interaction (2)

Gene RIF (14)

PMID Text
26231322 Sanjad-Sakati syndrome molecular pathology has been shown to be due to mutations in the TBCE gene on chromosome 1q42-q43.
25908846 the role of the human TBCE and TBCB chaperones in alpha-tubulin-beta-tubulin dissociation, was investigated.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20103624 tudies confirmed elevated expression of three target antigens RAB38, TBCE, and DUSP12 in CML.
19491227 TBCE may play a role in development of the anterior pituitary, corpus callosum, and white matter in addition to the parathyroid glands.
19297412 TBCE is required for the normal development and function of neuromuscular synapses and that it promotes microtubule formation
19168853 Study demonstrates that, unlike its counterpart TBCE, TBCB only moderately destabilizes microtubules.
18262179 Depletion of Op18 by means of RNA interference increased the susceptibility of tubulin to TBCE or E-like mediated disruption, while overexpressed Op18 exerted a tubulin-protective effect.
17184771 TBCE, TBCB and alpha-tubulin form a ternary complex after heterodimer dissociation. These complexes might serve to escort alpha-tubulin towards degradation or recycling, depending on the cell requirements.
17008776 Reviews recent findings on the molecular mechanisms of the development of the parathyroid glands, with special emphasis on the possible role of tubulin chaperone E (TBCE), implicated in the hypopathyroidism, retardation and dysmorphism (HRD) syndrome.
12446740 The tubulin-specific chaperone E (Tbce) mutation described here suggests that alterations in tubulin assembly lead to retrograde degeneration of motor axons, ultimately resulting in motoneuron cell death.
12389029 Tbce is critical for the maintenance of microtubules in mouse motor axons
12389028 TBCE has a role in membrane trafficking in the Golgi and late endosomal compartments, tubulin assembly, and the development of the parathyroid

AA Sequence

MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFKCRHPTGGSFI      1 - 70
RPNKVNFGTDFLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIMKQQSQLSKLQEVSLRNCAVS     71 - 140
CAGEKGGVAEACPNIRKVDLSKNLLSSWDEVIHIADQLRHLEVLNVSENKLKFPSGSVLTGTLSVLKVLV    141 - 210
LNQTGITWAEVLRCVAGCPGLEELYLESNNIFISERPTDVLQTVKLLDLSSNQLIDENQLYLIAHLPRLE    211 - 280
QLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQISQWSFFNELEKLPSLRALSCLRNPLTKEDKE    281 - 350
AETARLLIIASIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHKDPEKNRLSEEFLTAHPRYQF    351 - 420
LCLKYGAPEDWELKTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSRLLKVPVSDLL    421 - 490
LSYESPKKPGREIELENDLKSLQFYSVENGDCLLVRW                                     491 - 527
//

Text Mined References (40)

PMID Year Title
26231322 2015 Sanjad-Sakati syndrome in a Tunisian child.
25908846 2015 The structure of the complex between ?-tubulin, TBCE and TBCB reveals a tubulin dimer dissociation mechanism.
23973072 2013 Tubulin-specific chaperones: components of a molecular machine that assembles the ?/? heterodimer.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22940919 2013 Autoinhibition of TBCB regulates EB1-mediated microtubule dynamics.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21269460 2011 Initial characterization of the human central proteome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20204449 2010 Tubulin chaperone E binds microtubules and proteasomes and protects against misfolded protein stress.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
20103624 2010 Efficacious immune therapy in chronic myelogenous leukemia (CML) recognizes antigens that are expressed on CML progenitor cells.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19557161 2009 Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
19491227 2009 Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19297412 2009 Drosophila Tubulin-specific chaperone E functions at neuromuscular synapses and is required for microtubule network formation.
19168853 2009 Gigaxonin controls vimentin organization through a tubulin chaperone-independent pathway.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18262179 2008 Op18/Stathmin counteracts the activity of overexpressed tubulin-disrupting proteins in a human leukemia cell line.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17184771 2007 Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation.
17008776 2007 Parathyroid development and the role of tubulin chaperone E.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12446740 2002 Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease.
12389029 2002 A missense mutation in Tbce causes progressive motor neuronopathy in mice.
12389028 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
11847227 2002 Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C.
9891010 1999 Selected subunits of the cytosolic chaperonin associate with microtubules assembled in vitro.
9806825 1998 The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.
9634513 1998 Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43.
9265649 1997 Tubulin subunits exist in an activated conformational state generated and maintained by protein cofactors.
8706133 1996 Pathway leading to correctly folded beta-tubulin.
8567715 1996 Chaperonin-mediated folding of actin and tubulin.