TRMU
Mitohondrijska tRNK-specifična 2-tiouridilaza 1 jest enzim koji je kod ljudi kodiran genom TRMU sa hromosoma 22.[5][6]
Aminokiselinska sekvenca[uredi | uredi izvor]
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 |
Funkcija[uredi | uredi izvor]
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]
Reference[uredi | uredi izvor]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000100416 - Ensembl, maj 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022386 - 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.
- ^ 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.
- ^ a b c "Entrez Gene: TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase".
Dopunska literatura[uredi | uredi izvor]
- 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.