Mitohondrijska tRNK-specifična 2-tiouridilaza 1 jest enzim koji je kod ljudi kodiran genom TRMU sa hromosoma 22.[5][6]
Kratke činjenice Identifikatori, Aliasi ...
Zatvori
Dužina polipeptidnog lanca je 421 aminokiselina, a molekulska težina 47.745 Da. [6]
| 10 | | 20 | | 30 | | 40 | | 50 |
|---|
| MQALRHVVCA | | LSGGVDSAVA | | ALLLRRRGYQ | | VTGVFMKNWD | | SLDEHGVCTA |
| DKDCEDAYRV | | CQILDIPFHQ | | VSYVKEYWND | | VFSDFLNEYE | | KGRTPNPDIV |
| CNKHIKFSCF | | FHYAVDNLGA | | DAIATGHYAR | | TSLEDEEVFE | | QKHVKKPEGL |
| FRNRFEVRNA | | VKLLQAADSF | | KDQTFFLSQV | | SQDALRRTIF | | PLGGLTKEFV |
| KKIAAENRLH | | HVLQKKESMG | | MCFIGKRNFE | | HFLLQYLQPR | | PGHFISIEDN |
| KVLGTHKGWF | | LYTLGQRANI | | GGLREPWYVV | | EKDSVKGDVF | | VAPRTDHPAL |
| YRDLLRTSRV | | HWIAEEPPAA | | LVRDKMMECH | | FRFRHQMALV | | PCVLTLNQDG |
| TVWVTAVQAV | | RALATGQFAV | | FYKGDECLGS | | GKILRLGPSA | | YTLQKGQRRA |
| GMATESPSDS | | PEDGPGLSPL | | L |
Ovaj gen je član porodice trmU. Kodira enzim koji modifikuje tRNK-specifičnu za mitohondrije koja je neophodna za 2-tio modifikaciju 5-taurinometil-2-tiouridinske tRNK-Lys na poziciji kolebljivog antikodona.[6]
Yan Q, Guan MX (Jan 2004). "Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase". Biochim Biophys Acta. 1676 (2): 119–26. doi:10.1016/j.bbaexp.2003.11.010. PMID 14746906.
- Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.
- 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.
- 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.
- Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
- Umeda N, Suzuki T, Yukawa M, et al. (2005). "Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases". J. Biol. Chem. 280 (2): 1613–24. doi:10.1074/jbc.M409306200. PMID 15509579.
- Yan Q, Li X, Faye G, Guan MX (2005). "Mutations in MTO2 Related to tRNA Modification Impair Mitochondrial Gene Expression and Protein Synthesis in the Presence of a Paromomycin Resistance Mutation in Mitochondrial 15 S rRNA". J. Biol. Chem. 280 (32): 29151–7. doi:10.1074/jbc.M504247200. PMC 2905382. PMID 15944150.
- Oh JH, Yang JO, Hahn Y, et al. (2006). "Transcriptome analysis of human gastric cancer". Mamm. Genome. 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. PMID 16341674. S2CID 69278.
- Yan Q, Bykhovskaya Y, Li R, et al. (2006). "Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations". Biochem. Biophys. Res. Commun. 342 (4): 1130–6. doi:10.1016/j.bbrc.2006.02.078. PMID 16513084.
- Guan MX, Yan Q, Li X, et al. (2006). "Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations". Am. J. Hum. Genet. 79 (2): 291–302. doi:10.1086/506389. PMC 1559489. PMID 16826519.
