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.[5]
Lewis SA, Tian G, Vainberg IE, Cowan NJ (1996). "Chaperonin-mediated folding of actin and tubulin". J. Cell Biol. 132 (1–2): 1–4. doi:10.1083/jcb.132.1.1. PMC2120700. 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, 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. doi:10.1083/jcb.138.4.821. PMC2138046. 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. doi:10.1086/301915. PMC1377236. 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. doi:10.1074/jbc.274.4.2408. 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. S2CID 23979186.
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. S2CID 7279049.
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. PMC2173089. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. 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. S2CID 23783563.
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. PMC528928. 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
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. PMC1356129. 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. Bibcode:2006Natur.441..315G. 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.
This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.
tbce, tubulin, specific, chaperone, protein, that, humans, encoded, gene, available, structurespdbortholog, search, pdbe, rcsblist, codes4icu, 4icvidentifiersaliases, kcs1, pac2, tubulin, folding, cofactor, peamoexternal, idsomim, 604934, 1917680, homologene, . Tubulin specific chaperone E is a protein that in humans is encoded by the TBCE gene 4 5 TBCEAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes4ICU 4ICVIdentifiersAliasesTBCE HRD KCS KCS1 pac2 tubulin folding cofactor E PEAMOExternal IDsOMIM 604934 MGI 1917680 HomoloGene 37744 GeneCards TBCEGene location Mouse Chr Chromosome 13 mouse 1 Band13 A1 13 5 29 cMStart14 172 534 bp 1 End14 214 223 bp 1 RNA expression patternBgeeHumanMouse ortholog n aTop expressed insuperior frontal gyruscerebellar cortexspermatidneural tubeganglionic eminencelensthymussacculefacial motor nucleuslipBioGPSMore reference expression dataGene ontologyMolecular functionchaperone binding protein binding alpha tubulin bindingCellular componentcytoplasm microtubule cytoskeletonBiological processpost chaperonin tubulin folding pathway protein folding mitotic spindle organization microtubule cytoskeleton organization tubulin complex assemblySources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez690570430EnsemblENSG00000116957ENSMUSG00000039233UniProtQ15813Q8CIV8RefSeq mRNA NM 003193NM 001079515NM 001287801NM 001287802NM 178337RefSeq protein NP 001072983NP 001274730NP 001274731NP 003184NP 848027Location UCSC n aChr 13 14 17 14 21 MbPubMed search 2 3 WikidataView Edit HumanView Edit MouseCofactor 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 5 The TBCE gene is either deleted or mutated in Sanjad Sakati SyndromeReferences edit a b c GRCm38 Ensembl release 89 ENSMUSG00000039233 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Tian G Huang Y Rommelaere H Vandekerckhove J Ampe C Cowan NJ Sep 1996 Pathway leading to correctly folded beta tubulin Cell 86 2 287 96 doi 10 1016 S0092 8674 00 80100 2 PMID 8706133 S2CID 18359371 a b Entrez Gene TBCE tubulin folding cofactor E Further reading editLewis SA Tian G Vainberg IE Cowan NJ 1996 Chaperonin mediated folding of actin and tubulin J Cell Biol 132 1 2 1 4 doi 10 1083 jcb 132 1 1 PMC 2120700 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 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 doi 10 1083 jcb 138 4 821 PMC 2138046 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 doi 10 1086 301915 PMC 1377236 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 doi 10 1074 jbc 274 4 2408 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 S2CID 23979186 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 S2CID 7279049 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 PMC 2173089 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 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 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 S2CID 23783563 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 PMC 528928 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 Bibcode 2005Natur 437 1173R doi 10 1038 nature04209 PMID 16189514 S2CID 4427026 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 PMC 1356129 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 Bibcode 2006Natur 441 315G 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 nbsp This article on a gene on human chromosome 1 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title TBCE amp oldid 1115487182, wikipedia, wiki, book, books, library,
