TBCE

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)
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
	6905
	70430
	ENSG00000116957
	ENSMUSG00000039233
	Q15813
	Q8CIV8
	NM_003193; NM_001079515; NM_001287801; NM_001287802
	NM_178337
	NP_001072983; NP_001274730; NP_001274731; NP_003184
	NP_848027
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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Tubulin-specifčni šaperon E jest protein koji je kod ljudi kodiran genom TBCE sa hromosoma 1.^[4]^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 527 aminokiselina, a molekulska težina 59.346 Da.^[6]

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.^[5]

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

References

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000039233 - Ensembl, maj 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".
^ "UniProt, Q15813" (jezik: engleski). Pristupljeno 20. 12. 2021.

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.

[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000039233 - Ensembl, maj 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8706133-4] 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.

[entrez-5] "Entrez Gene: TBCE tubulin folding cofactor E".

[UniProt-6] "UniProt, Q15813" (jezik: engleski). Pristupljeno 20. 12. 2021.

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