TBCE: Difference between revisions

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{{Infobox_gene}}
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'''Tubulin-specific chaperone E''' is a [[protein]] that in humans is encoded by the ''TBCE'' [[gene]].<ref name="pmid8706133">{{cite journal | vauthors = Tian G, Huang Y, Rommelaere H, Vandekerckhove J, Ampe C, Cowan NJ | title = Pathway leading to correctly folded beta-tubulin | journal = Cell | volume = 86 | issue = 2 | pages = 287–96 |date=Sep 1996 | pmid = 8706133 | pmc =  | doi =10.1016/S0092-8674(00)80100-2 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TBCE tubulin folding cofactor E| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6905| accessdate = }}</ref>
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Tubulin folding cofactor E
| HGNCid = 11582
| Symbol = TBCE
| AltSymbols =; HRD; KCS; KCS1; pac2
| OMIM = 604934
| ECnumber = 
| Homologene = 37744
| MGIid = 1917680
| GeneAtlas_image1 = PBB_GE_TBCE_203714_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_TBCE_203715_at_tn.png
| Function = {{GNF_GO|id=GO:0051087 |text = chaperone binding}}
| Component = {{GNF_GO|id=GO:0005856 |text = cytoskeleton}} {{GNF_GO|id=GO:0005874 |text = microtubule}}
| Process = {{GNF_GO|id=GO:0000226 |text = microtubule cytoskeleton organization and biogenesis}} {{GNF_GO|id=GO:0006457 |text = protein folding}} {{GNF_GO|id=GO:0007025 |text = beta-tubulin folding}} {{GNF_GO|id=GO:0007409 |text = axonogenesis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6905
    | Hs_Ensembl = ENSG00000116957
    | Hs_RefseqProtein = NP_001072983
    | Hs_RefseqmRNA = NM_001079515
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 233597298
    | Hs_GenLoc_end = 233678906
    | Hs_Uniprot = Q15813
    | Mm_EntrezGene = 70430
    | Mm_Ensembl = ENSMUSG00000039233
    | Mm_RefseqmRNA = NM_178337
    | Mm_RefseqProtein = NP_848027
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 13
    | Mm_GenLoc_start = 13790079
    | Mm_GenLoc_end = 13831764
    | Mm_Uniprot = Q8CIV8
  }}
}}
'''Tubulin folding cofactor E''', also known as '''TBCE''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: TBCE tubulin folding cofactor E| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6905| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: TBCE tubulin folding cofactor E| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6905| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez" />
}}
}}
The TBCE gene is either deleted or mutated in [[Sanjad-Sakati Syndrome]]


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Lewis SA, Tian G, Vainberg IE, Cowan NJ |title=Chaperonin-mediated folding of actin and tubulin. |journal=J. Cell Biol. |volume=132 |issue= 1-2 |pages= 1-4 |year= 1996 |pmid= 8567715 |doi=  }}
*{{cite journal  | vauthors=Lewis SA, Tian G, Vainberg IE, Cowan NJ |title=Chaperonin-mediated folding of actin and tubulin |journal=J. Cell Biol. |volume=132 |issue= 1–2 |pages= 1–4 |year= 1996 |pmid= 8567715 |doi=10.1083/jcb.132.1.1  | pmc=2120700 }}
*{{cite journal  | author=Parvari R, Diaz GA, Hershkovitz E |title=Parathyroid development and the role of tubulin chaperone E. |journal=Horm. Res. |volume=67 |issue= 1 |pages= 12-21 |year= 2007 |pmid= 17008776 |doi= 10.1159/000095944 }}
*{{cite journal  | vauthors=Parvari R, Diaz GA, Hershkovitz E |title=Parathyroid development and the role of tubulin chaperone E |journal=Horm. Res. |volume=67 |issue= 1 |pages= 12–21 |year= 2007 |pmid= 17008776 |doi= 10.1159/000095944 }}
*{{cite journal | author=Tian G, Huang Y, Rommelaere H, ''et al.'' |title=Pathway leading to correctly folded beta-tubulin. |journal=Cell |volume=86 |issue= 2 |pages= 287-96 |year= 1996 |pmid= 8706133 |doi=  }}
*{{cite journal   |vauthors=Tian G, Lewis SA, Feierbach B, etal |title=Tubulin subunits exist in an activated conformational state generated and maintained by protein cofactors |journal=J. Cell Biol. |volume=138 |issue= 4 |pages= 821–32 |year= 1997 |pmid= 9265649 |doi=10.1083/jcb.138.4.821  | pmc=2138046 }}
*{{cite journal  | author=Tian G, Lewis SA, Feierbach B, ''et al.'' |title=Tubulin subunits exist in an activated conformational state generated and maintained by protein cofactors. |journal=J. Cell Biol. |volume=138 |issue= 4 |pages= 821-32 |year= 1997 |pmid= 9265649 |doi=  }}
*{{cite journal   |vauthors=Parvari R, Hershkovitz E, Kanis A, etal |title=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 |journal=Am. J. Hum. Genet. |volume=63 |issue= 1 |pages= 163–9 |year= 1998 |pmid= 9634513 |doi=10.1086/301915  | pmc=1377236 }}
*{{cite journal | author=Parvari R, Hershkovitz E, Kanis A, ''et al.'' |title=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. |journal=Am. J. Hum. Genet. |volume=63 |issue= 1 |pages= 163-9 |year= 1998 |pmid= 9634513 |doi=  }}
*{{cite journal  | vauthors=Diaz GA, Khan KT, Gelb BD |title=The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43 |journal=Genomics |volume=54 |issue= 1 |pages= 13–8 |year= 1999 |pmid= 9806825 |doi= 10.1006/geno.1998.5530 }}
*{{cite journal  | author=Diaz GA, Khan KT, Gelb BD |title=The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. |journal=Genomics |volume=54 |issue= 1 |pages= 13-8 |year= 1999 |pmid= 9806825 |doi= 10.1006/geno.1998.5530 }}
*{{cite journal  | vauthors=Roobol A, Sahyoun ZP, Carden MJ |title=Selected subunits of the cytosolic chaperonin associate with microtubules assembled in vitro |journal=J. Biol. Chem. |volume=274 |issue= 4 |pages= 2408–15 |year= 1999 |pmid= 9891010 |doi=10.1074/jbc.274.4.2408 }}
*{{cite journal  | author=Roobol A, Sahyoun ZP, Carden MJ |title=Selected subunits of the cytosolic chaperonin associate with microtubules assembled in vitro. |journal=J. Biol. Chem. |volume=274 |issue= 4 |pages= 2408-15 |year= 1999 |pmid= 9891010 |doi=  }}
*{{cite journal   |vauthors=Parvari R, Hershkovitz E, Grossman N, etal |title=Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome |journal=Nat. Genet. |volume=32 |issue= 3 |pages= 448–52 |year= 2002 |pmid= 12389028 |doi= 10.1038/ng1012 }}
*{{cite journal | author=Parvari R, Hershkovitz E, Grossman N, ''et al.'' |title=Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. |journal=Nat. Genet. |volume=32 |issue= 3 |pages= 448-52 |year= 2002 |pmid= 12389028 |doi= 10.1038/ng1012 }}
*{{cite journal   |vauthors=Martin N, Jaubert J, Gounon P, etal |title=A missense mutation in Tbce causes progressive motor neuronopathy in mice |journal=Nat. Genet. |volume=32 |issue= 3 |pages= 443–7 |year= 2002 |pmid= 12389029 |doi= 10.1038/ng1016 }}
*{{cite journal | author=Martin N, Jaubert J, Gounon P, ''et al.'' |title=A missense mutation in Tbce causes progressive motor neuronopathy in mice. |journal=Nat. Genet. |volume=32 |issue= 3 |pages= 443-7 |year= 2002 |pmid= 12389029 |doi= 10.1038/ng1016 }}
*{{cite journal   |vauthors=Bommel H, Xie G, Rossoll W, etal |title=Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease |journal=J. Cell Biol. |volume=159 |issue= 4 |pages= 563–9 |year= 2003 |pmid= 12446740 |doi= 10.1083/jcb.200208001 | pmc=2173089 }}
*{{cite journal | author=Bommel H, Xie G, Rossoll W, ''et al.'' |title=Missense mutation in the tubulin-specific chaperone E (Tbce) gene in the mouse mutant progressive motor neuronopathy, a model of human motoneuron disease. |journal=J. Cell Biol. |volume=159 |issue= 4 |pages= 563-9 |year= 2003 |pmid= 12446740 |doi= 10.1083/jcb.200208001 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Gevaert K, Goethals M, Martens L, etal |title=Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides |journal=Nat. Biotechnol. |volume=21 |issue= 5 |pages= 566–9 |year= 2004 |pmid= 12665801 |doi= 10.1038/nbt810 }}
*{{cite journal | author=Gevaert K, Goethals M, Martens L, ''et al.'' |title=Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. |journal=Nat. Biotechnol. |volume=21 |issue= 5 |pages= 566-9 |year= 2004 |pmid= 12665801 |doi= 10.1038/nbt810 }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal   |vauthors=Rual JF, Venkatesan K, Hao T, etal |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
*{{cite journal | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
*{{cite journal   |vauthors=Kimura K, Wakamatsu A, Suzuki Y, etal |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 }}
*{{cite journal | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
*{{cite journal   |vauthors=Gregory SG, Barlow KF, McLay KE, etal |title=The DNA sequence and biological annotation of human chromosome 1 |journal=Nature |volume=441 |issue= 7091 |pages= 315–21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 }}
*{{cite journal | author=Gregory SG, Barlow KF, McLay KE, ''et al.'' |title=The DNA sequence and biological annotation of human chromosome 1. |journal=Nature |volume=441 |issue= 7091 |pages= 315-21 |year= 2006 |pmid= 16710414 |doi= 10.1038/nature04727 }}
*{{cite journal   |vauthors=Kortazar D, Fanarraga ML, Carranza G, etal |title=Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation |journal=Exp. Cell Res. |volume=313 |issue= 3 |pages= 425–36 |year= 2007 |pmid= 17184771 |doi= 10.1016/j.yexcr.2006.09.002 }}
*{{cite journal | author=Kortazar D, Fanarraga ML, Carranza G, ''et al.'' |title=Role of cofactors B (TBCB) and E (TBCE) in tubulin heterodimer dissociation. |journal=Exp. Cell Res. |volume=313 |issue= 3 |pages= 425-36 |year= 2007 |pmid= 17184771 |doi= 10.1016/j.yexcr.2006.09.002 }}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 11:38, 15 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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.[2] The TBCE gene is either deleted or mutated in Sanjad-Sakati Syndrome

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 "Entrez Gene: TBCE tubulin folding cofactor E".

Further reading



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