TBCE

From Wikipedia, the free encyclopedia

Tubulin folding cofactor E

Identifiers

TBCE; HRD; KCS; KCS1; pac2

External IDs

OMIM: 604934 MGI: 1917680 HomoloGene: 37744

Gene ontology
Molecular Function:	• chaperone binding
Cellular Component:	• cytoskeleton • microtubule
Biological Process:	• microtubule cytoskeleton organization and biogenesis • protein folding • beta-tubulin folding • axonogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_001079515 (mRNA)
NP_001072983 (protein)

NM_178337 (mRNA)
NP_848027 (protein)

Location

Chr 1: 233.6 - 233.68 Mb

Chr 13: 13.79 - 13.83 Mb

Pubmed search

[1]

[2]

Tubulin folding cofactor E, also known as TBCE, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: TBCE tubulin folding cofactor E.

[edit] Further reading

Lewis SA, Tian G, Vainberg IE, Cowan NJ (1996). "Chaperonin-mediated folding of actin and tubulin.". J. Cell Biol. 132 (1-2): 1–4. PMID 8567715.
Parvari R, Diaz GA, Hershkovitz E (2007). "Parathyroid development and the role of tubulin chaperone E.". Horm. Res. 67 (1): 12–21. doi:10.1159/000095944. PMID 17008776.
Tian G, Huang Y, Rommelaere H, et al. (1996). "Pathway leading to correctly folded beta-tubulin.". Cell 86 (2): 287–96. PMID 8706133.
Tian G, Lewis SA, Feierbach B, et al. (1997). "Tubulin subunits exist in an activated conformational state generated and maintained by protein cofactors.". J. Cell Biol. 138 (4): 821–32. PMID 9265649.
Parvari R, Hershkovitz E, Kanis A, et al. (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.". Am. J. Hum. Genet. 63 (1): 163–9. PMID 9634513.
Diaz GA, Khan KT, Gelb BD (1999). "The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.". Genomics 54 (1): 13–8. doi:10.1006/geno.1998.5530. PMID 9806825.
Roobol A, Sahyoun ZP, Carden MJ (1999). "Selected subunits of the cytosolic chaperonin associate with microtubules assembled in vitro.". J. Biol. Chem. 274 (4): 2408–15. PMID 9891010.
Parvari R, Hershkovitz E, Grossman N, et al. (2002). "Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.". Nat. Genet. 32 (3): 448–52. doi:10.1038/ng1012. PMID 12389028.
Martin N, Jaubert J, Gounon P, et al. (2002). "A missense mutation in Tbce causes progressive motor neuronopathy in mice.". Nat. Genet. 32 (3): 443–7. doi:10.1038/ng1016. PMID 12389029.
Bommel H, Xie G, Rossoll W, et al. (2003). "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. doi:10.1083/jcb.200208001. PMID 12446740.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMID 16344560.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
Kortazar D, Fanarraga ML, Carranza G, et al. (2007). "Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation.". Exp. Cell Res. 313 (3): 425–36. doi:10.1016/j.yexcr.2006.09.002. PMID 17184771.