Description: Homo sapiens tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. RefSeq Summary (NM_018006): This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Transcript (Including UTRs) Position: hg19 chr22:46,731,298-46,753,237 Size: 21,940 Total Exon Count: 11 Strand: + Coding Region Position: hg19 chr22:46,731,662-46,752,903 Size: 21,242 Coding Exon Count: 11
ID:MTU1_HUMAN DESCRIPTION: RecName: Full=Mitochondrial tRNA-specific 2-thiouridylase 1; EC=2.8.1.-; AltName: Full=MTO2 homolog; FUNCTION: Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2- thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base. SUBCELLULAR LOCATION: Mitochondrion. TISSUE SPECIFICITY: Ubiquitous. Abundantly expressed in tissues with high metabolic rates including heart, liver, kidney, and brain. POLYMORPHISM: The polymorphism Ser-10 aggravates the mitochondrial dysfunction associated with a mitochondrial 12S ribosomal RNA (rRNA) A1555G mutation that has been associated with aminoglycoside-induced and non-syndromic deafness [MIM:580000]. DISEASE: Defects in TRMU are a cause of transient infantile liver failure (LFIT) [MIM:613070]. A transient disorder of hepatic function characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, increased serum lactate. Patients who survive the initial acute episode can recover, show normal development and have no recurrence. MISCELLANEOUS: During the reaction, ATP is used to activate the C2 atom of U34 by adenylation. After this, the persulfide sulfur on the catalytic cysteine is transferred to the C2 atom of the wobble base (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). The reaction probably involves hydrogen sulfide that is generated from the persulfide intermediate and that acts as nucleophile towards the activated C2 atom on U34. Subsequently, a transient disulfide bond is formed between the two active site cysteine residues (By similarity). SIMILARITY: Belongs to the MnmA/TRMU family. CAUTION: Was originally (PubMed:16513084) thought to be a 5- methylaminomethyl-2-methyltransferase involved in tRNA modification.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O75648
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
