TRMU

Mitochondrial tRNA-specific 2-thiouridylase 1 is an enzyme that in humans is encoded by the TRMU gene.

TRMU
Identifiers
Aliases	TRMU, MTO2, MTU1, TRMT, TRMT1, TRNT1, LCAL3, tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase, tRNA mitochondrial 2-thiouridylase
External IDs	OMIM: 610230 MGI: 1919276 HomoloGene: 5589 GeneCards: TRMU
Gene location (Human) Chr. Chromosome 22 (human) Band 22q13.31 Start 46,330,875 bp End 46,357,340 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 E2 Start 85,763,513 bp End 85,781,595 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube anterior pituitary right lobe of thyroid gland body of pancreas left lobe of thyroid gland left ventricle tibial nerve skin of abdomen canal of the cervix body of stomach Top expressed in interventricular septum proximal tubule otolith organ neural tube lens utricle superior frontal gyrus cerebellar cortex spermatocyte lip More reference expression data BioGPS More reference expression data
Gene ontology Molecular function RNA binding transferase activity tRNA binding nucleotide binding sulfurtransferase activity ATP binding methyltransferase activity Cellular component mitochondrion nucleoplasm Biological process tRNA wobble position uridine thiolation mitochondrial tRNA thio-modification tRNA processing methylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55687 72026 Ensembl ENSG00000100416 ENSMUSG00000022386 UniProt O75648 Q2PPL5 Q9DAT5 RefSeq (mRNA) NM_001008569 NM_001008571 NM_001282782 NM_001282783 NM_001282784 NM_001282785 NM_018006 NM_028063 RefSeq (protein) NP_001269711 NP_001269712 NP_001269713 NP_001269714 NP_060476 NP_001269711.1 NP_082339 Location (UCSC) Chr 22: 46.33 – 46.36 Mb Chr 15: 85.76 – 85.78 Mb PubMed search
Wikidata
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This gene is a member of the trmU family. It encodes a mitochondria-specific tRNA-modifying enzyme that is required for the 2-thio modification of 5-taurinomethyl-2-thiouridine tRNA-Lys on the wobble position of the anticodon.

Further reading

• Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. 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. Bibcode:2002PNAS...9916899M. 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.