TBCE

Tubulin-specifčni šaperon E jest protein koji je kod ljudi kodiran genom TBCE sa hromosoma 1.

TBCE
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 4ICU, 4ICV
Identifikatori
Aliasi	TBCE
Vanjski ID-jevi	OMIM: 604934 MGI: 1917680 HomoloGene: 37744 GeneCards: TBCE
Lokacija gena (miš) Hrom. Hromosom 13 (miš) Bend 13 A1|13 5.29 cM Početak 14,172,534 bp Kraj 14,214,223 bp
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • chaperone binding • GO:0001948, GO:0016582 vezivanje za proteine • alpha-tubulin binding Ćelijska komponenta • citoplazma • Mikrotubula • citoskelet Biološki proces • post-chaperonin tubulin folding pathway • Savijanje proteina • GO:0043148 mitotic spindle organization • microtubule cytoskeleton organization • tubulin complex assembly Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	6905	70430
Ensembl	ENSG00000116957	ENSMUSG00000039233
UniProt	Q15813	Q8CIV8
RefSeq (mRNK)	NM_003193 NM_001079515 NM_001287801 NM_001287802	NM_178337
RefSeq (bjelančevina)	NP_001072983 NP_001274730 NP_001274731 NP_003184	NP_848027
Lokacija (UCSC)	n/a	Chr 13: 14.17 – 14.21 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 527 aminokiselina, a molekulska težina 59.346 Da.

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

10		20		30		40		50
MSDTLTADVI		GRRVEVNGEH		ATVRFAGVVP		PVAGPWLGVE		WDNPERGKHD
GSHEGTVYFK		CRHPTGGSFI		RPNKVNFGTD		FLTAIKNRYV		LEDGPEEDRK
EQIVTIGNKP		VETIGFDSIM		KQQSQLSKLQ		EVSLRNCAVS		CAGEKGGVAE
ACPNIRKVDL		SKNLLSSWDE		VIHIADQLRH		LEVLNVSENK		LKFPSGSVLT
GTLSVLKVLV		LNQTGITWAE		VLRCVAGCPG		LEELYLESNN		IFISERPTDV
LQTVKLLDLS		SNQLIDENQL		YLIAHLPRLE		QLILSDTGIS		SLHFPDAGIG
CKTSMFPSLK		YLVVNDNQIS		QWSFFNELEK		LPSLRALSCL		RNPLTKEDKE
AETARLLIIA		SIGQLKTLNK		CEILPEERRR		AELDYRKAFG		NEWKQAGGHK
DPEKNRLSEE		FLTAHPRYQF		LCLKYGAPED		WELKTQQPLM		LKNQLLTLKI
KYPHQLDQKV		LEKQLPGSMT		IQKVKGLLSR		LLKVPVSDLL		LSYESPKKPG
REIELENDLK		SLQFYSVENG		DCLLVRW

Funkcija

Kofaktor E je jedan od četiri proteina (kofaktori A, D, E i C) koji su uključeni u put koji vodi do pravilno presavijenog beta-tubulina iz međuprodukata savijanja. Vjeruje se da kofaktori A i D igraju ulogu u hvatanju i stabilizaciji intermedijera beta-tubulina u kvazi-nativnoj potvrdi. Kofaktor E vezuje se za kofaktor D/beta-tubulinskog kompleksa; interakcija sa kofaktorom C tada uzrokuje oslobađanje beta-tubulinskih polipeptida koji su predani nativnom stanju. Za ovaj gen su pronađene dvije varijante transkripta koje kodiraju isti protein.

U Sanjad-Sakatijevom sindromu gen TBCE je ili deletiran ili mutiran.

Dopunska litreratura

• 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. 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. 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.