TBCE explained

Tubulin-specific chaperone E is a protein that in humans is encoded by the TBCE gene.^{[1] [2]}

Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene.

The TBCE gene is either deleted or mutated in Sanjad-Sakati Syndrome

Further reading

• Lewis SA, Tian G, Vainberg IE, Cowan NJ . Chaperonin-mediated folding of actin and tubulin . J. Cell Biol. . 132 . 1–2 . 1–4 . 1996 . 8567715 . 10.1083/jcb.132.1.1 . 2120700 .
• Parvari R, Diaz GA, Hershkovitz E . Parathyroid development and the role of tubulin chaperone E . Horm. Res. . 67 . 1 . 12–21 . 2007 . 17008776 . 10.1159/000095944 . free .
• Tian G, Lewis SA, Feierbach B, etal . Tubulin subunits exist in an activated conformational state generated and maintained by protein cofactors . J. Cell Biol. . 138 . 4 . 821–32 . 1997 . 9265649 . 10.1083/jcb.138.4.821 . 2138046 .
• Parvari R, Hershkovitz E, Kanis A, etal . 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 . Am. J. Hum. Genet. . 63 . 1 . 163–9 . 1998 . 9634513 . 10.1086/301915 . 1377236 .
• Diaz GA, Khan KT, Gelb BD . The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43 . Genomics . 54 . 1 . 13–8 . 1999 . 9806825 . 10.1006/geno.1998.5530 .
• Roobol A, Sahyoun ZP, Carden MJ . Selected subunits of the cytosolic chaperonin associate with microtubules assembled in vitro . J. Biol. Chem. . 274 . 4 . 2408–15 . 1999 . 9891010 . 10.1074/jbc.274.4.2408 . free .
• Parvari R, Hershkovitz E, Grossman N, etal . Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome . Nat. Genet. . 32 . 3 . 448–52 . 2002 . 12389028 . 10.1038/ng1012 . 23979186 .
• Martin N, Jaubert J, Gounon P, etal . A missense mutation in Tbce causes progressive motor neuronopathy in mice . Nat. Genet. . 32 . 3 . 443–7 . 2002 . 12389029 . 10.1038/ng1016 . 7279049 .
• Bommel H, Xie G, Rossoll W, etal . Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease . J. Cell Biol. . 159 . 4 . 563–9 . 2003 . 12446740 . 10.1083/jcb.200208001 . 2173089 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Gevaert K, Goethals M, Martens L, etal . Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides . Nat. Biotechnol. . 21 . 5 . 566–9 . 2004 . 12665801 . 10.1038/nbt810 . 23783563 .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Rual JF, Venkatesan K, Hao T, etal . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
• Kimura K, Wakamatsu A, Suzuki Y, etal . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 .
• Gregory SG, Barlow KF, McLay KE, etal . The DNA sequence and biological annotation of human chromosome 1 . Nature . 441 . 7091 . 315–21 . 2006 . 16710414 . 10.1038/nature04727 . 2006Natur.441..315G . free .
• Kortazar D, Fanarraga ML, Carranza G, etal . Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation . Exp. Cell Res. . 313 . 3 . 425–36 . 2007 . 17184771 . 10.1016/j.yexcr.2006.09.002 .

Notes and References

1. Tian G, Huang Y, Rommelaere H, Vandekerckhove J, Ampe C, Cowan NJ . Pathway leading to correctly folded beta-tubulin . Cell . 86 . 2 . 287–96 . Sep 1996 . 8706133 . 10.1016/S0092-8674(00)80100-2 . 18359371 . free .
2. Web site: Entrez Gene: TBCE tubulin folding cofactor E.