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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive liver       highly   salivary gland       highly Lymphoid/Immune thymus       highly Nervous brain       highly Reproductive female system uterus cervix   highly Urinary kidney       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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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