Property Summary

NCBI Gene PubMed Count 21
PubMed Score 138.43
PubTator Score 25.62

Knowledge Summary


No data available


  Differential Expression (6)

Disease log2 FC p
osteosarcoma -1.635 9.0e-03
group 3 medulloblastoma 2.300 4.7e-05
medulloblastoma, large-cell 1.800 3.5e-05
primitive neuroectodermal tumor 1.300 2.1e-02
Atopic dermatitis 1.100 8.6e-05
lung cancer 1.400 4.8e-04

Gene RIF (13)

25149473 Results show that post-transcriptional expression of GTPBP3, MTO1 and TRMU genes is down-regulated, leading to mt-tRNA hypomodification and contributing to mitochondrial dysfunction in MELAS cybrids.
22504945 An additional, heterozygous mutation was detected in TRMU/MTU1. Although subject myoblasts and myotubes contained half the normal levels of TRMU, thiolation of mitochondrial tRNAs was normal.
21890497 MTU1 is not required for mitochondrial translation.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19732863 There is a window of time whereby patients with TRMU mutations are at increased risk of developing liver failure.
19338775 Observational study of gene-disease association. (HuGE Navigator)
19209188 Meta-analysis of gene-disease association. (HuGE Navigator)
18391568 TRMU G28T single nucleotide polymorphism is present in 1 of the studied families for neurosensory nonsyndromic deafness
16826519 The mutated TRMU, related to transfer RNA modification, acting as a modifier factor modulates the phenotypic manifestation of deafness-associated 12S rRNA mutations.
16513084 These observations suggest that human TRMU may modulate the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA mutations.
15944150 MTO2 may act as a modifier gene, modulating the phenotypic expression of the deafness-associated A1491G or C1409T mutation in mitochondrial 12 S rRNA
15509579 identification and characterization of a tRNA-modifying enzyme MTU1 (mitochondrial tRNA-specific 2-thiouridylase 1) that is responsible for the 2-thiolation of the wobble position in human and yeast mt tRNAs
14746906 Identification and characterization of a mouse gene encoding one component of the enzyme complex responsible for the nucleotide modification at wobble position of mitochondrial tRNA anticodons.

AA Sequence


Text Mined References (23)

PMID Year Title
25149473 2015 The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome.
23510774 2013 Nuclear factors: roles related to mitochondrial deafness.
22504945 2012 A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.
21890497 2011 The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.
21153446 2011 Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19732863 2009 Acute infantile liver failure due to mutations in the TRMU gene.
19338775 2009 Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment.
19209188 2009 Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18391568 2008 Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness.
16826519 2006 Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
16513084 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.
16341674 2005 Transcriptome analysis of human gastric cancer.
15944150 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.
15509579 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.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15461802 2004 A genome annotation-driven approach to cloning the human ORFeome.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14746906 2004 Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10591208 1999 The DNA sequence of human chromosome 22.