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FLASH GENE
Symbol TRMU contributors: mct/npt/pgu - updated : 25-05-2014
HGNC name tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
HGNC id 25481
Corresponding disease
AILF acute infantile liver failure
Location 22q13.31      Physical location : 46.731.297 - 46.753.236
Synonym name
  • mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase
  • MTO2 homolog
  • Synonym symbol(s) MTO2, MTU1, TRMT, TRMT1, TRNT1, FLJ10140, MGC99627
    EC.number 2.1.1.61, 2.8.1.-
    DNA
    TYPE functioning gene
    STRUCTURE 21.94 kb     11 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1974 - 421 - 2006 16826519
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
     salivary gland   highly
    Lymphoid/Immunethymus   highly
    Nervousbrain   highly
    Reproductivefemale systemuteruscervix highly
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to bacterial MnmA
    Homologene
    FAMILY
  • TRMU family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • required for the 2-thio modification of 5-taurinomethyl-2-thiouridine tRNA-Lys on the wobble position of the anticodon
  • putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations
  • may act as a modifier gene, modulating the phenotypic expression of the deafness-associated A1491G or C1409T mutation in mitochondrial 12 S rRNA
  • participates in the modification of mitochondrial tRNAs and is therefore important for mitochondrial translation
  • may modulate the phenotypic manifestation of deafness-associated mitochondrial mutation
  • participates in the modification of mitochondrial tRNAs and is therefore important for mitochondrial translation
  • not required for mitochondrial translation at normal steady-state levels of tRNAs, but it may possess an as yet uncharacterized function in another sulfur-trafficking pathway
  • might be involved in the assembly of enzyme complexes containing iron
  • sulfur clusters
  • tRNA methyltransferase that dimethylates a single guanine residue at position 26 of most tRNAs using S-adenosyl methionine as the methyl group donor
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
  • requires sulfur for its activity
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AILF
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    missense mutation (G28T) altering an invariant amino acid residue (A10S) in the N-terminal region associated to mitochondrial 12S ribosomal RNA (rRNA) A1555G mutation in aminoglycoside-induced and nonsyndromic deafness
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS