TRMU (MTO2, MTU1) transfers a sulfur atom to 5-taurinomethyluridine-34 in tRNA

Stable Identifier
Reaction [omitted]
Homo sapiens
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TRMU (MTU1) transfers a sulfur atom from L-cysteine to the 2 position of 5-taurinomethyluridine-34 in tRNAs (Umeda et al. 2005, Sasarman et al. 2011). In Escherichia coli the sulfur is transferred along a relay system of proteins from L-cysteine to uridine. It is unknown if such a relay system also exists in humans. In yeast, mutations in MTU1, the homolog of TRMU act synergistically with mutations in the homologs of GTPBP3 and MTO1 to impair mitochondrial function (Umeda et al. 2005). In humans mutations in TRMU cause mitochondrial infantile liver disease (Zeharia et al. 2009, Gaignard et al. 2013), infantile respiratory chain disease (Boczonadi et al. 2013), and modify the severity of deafness associated with mutations in mitochondrial 12S rRNA (Guan et al. 2006), however abrogation of the thiouridylase function of TRMU may not be responsible for the phenotypes (Sasarman et al. 2011).

Literature References
PubMed ID Title Journal Year
16826519 Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

Garrido, G, Shohat, M, Guan, MX, Li, R, del Castillo, I, Gallo-Teran, J, Hajek, P, Ballana, E, Qian, Y, Mengesha, E, Wang, X, Bykhovskaya, Y, Lu, J, Zhao, H, Peters, JL, Suzuki, T, Umeda, N, Yan, Q, Fischel-Ghodsian, N, Watanabe, K, Estivill, X, Li, X

Am. J. Hum. Genet. 2006
15509579 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

Ohya, Y, Suzuki, T, Suzuki, T, Umeda, N, Shindo, H, Yukawa, M, Watanabe, K

J. Biol. Chem. 2005
23814040 Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

Gomez-Duran, A, Tulinius, M, Schara, U, Pyle, A, Horvath, R, Chinnery, PF, Boczonadi, V, Smith, PM

Hum. Mol. Genet. 2013
21890497 The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation

Antonicka, H, Horvath, R, Sasarman, F, Shoubridge, EA

Hum. Mol. Genet. 2011
19732863 Acute infantile liver failure due to mutations in the TRMU gene

Elpeleg, O, Pappo, O, Beinat, M, Marom, D, Karicheva, O, Rötig, A, Ofek, N, Mandel, H, Mager-Heckel, AM, Shaag, A, Segel, R, Saada, A, Tarassov, I, Zeharia, A

Am. J. Hum. Genet. 2009
23625533 Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases

Ackermann, O, Slama, A, Correia, I, Jacquemin, E, Gonzales, E, Labrune, P, Gaignard, P, Therond, P

JIMD Rep 2013
Event Information
Catalyst Activity

tRNA-5-taurinomethyluridine 2-sulfurtransferase activity of TRMU [mitochondrial matrix]

Inferred From
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