EC Number | Cloned (Comment) | Organism |
---|---|---|
2.1.1.228 | gene TRMT5, genetic structure and genotyping | Homo sapiens |
EC Number | Protein Variants | Comment | Organism |
---|---|---|---|
2.1.1.228 | M386V | naturally occuring TRMT5 mutation, the mutant shows diminished G37 modification of a mitochondrial tRNA and a pathogenic phenotype | Homo sapiens |
2.1.1.228 | additional information | identification of TRMT5 enzyme mutants in patients, the loss of m1G37 does not appear to impact tRNA stability, phenotype, overview | Homo sapiens |
2.1.1.228 | R291H | naturally occuring TRMT5 mutation, the mutant shows diminished G37 modification of a mitochondrial tRNA and a pathogenic phenotype | Homo sapiens |
EC Number | Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|---|
2.1.1.228 | mitochondrion | - |
Homo sapiens | 5739 | - |
EC Number | Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
2.1.1.228 | S-adenosyl-L-methionine + guanine37 in tRNA | Homo sapiens | - |
S-adenosyl-L-homocysteine + N1-methylguanine37 in tRNA | - |
? |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
2.1.1.228 | Homo sapiens | - |
gene TRMT5 | - |
EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
2.1.1.228 | S-adenosyl-L-methionine + guanine37 in tRNA | - |
Homo sapiens | S-adenosyl-L-homocysteine + N1-methylguanine37 in tRNA | - |
? |
EC Number | Subunits | Comment | Organism |
---|---|---|---|
2.1.1.228 | More | three-dimensional enzyme model, overview | Homo sapiens |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
2.1.1.228 | Trm5p | - |
Homo sapiens |
2.1.1.228 | tRNA methyltransferase 5 | - |
Homo sapiens |
EC Number | Cofactor | Comment | Organism | Structure |
---|---|---|---|---|
2.1.1.228 | S-adenosyl-L-methionine | - |
Homo sapiens |
EC Number | General Information | Comment | Organism |
---|---|---|---|
2.1.1.228 | evolution | the enzyme shows strong homology to members of the class I-like methyltransferase superfamily | Homo sapiens |
2.1.1.228 | malfunction | mutations in TRMT5 are associated with the hypomodification of a guanosine residue at position 37 (G37) of mitochondrial tRNA, this hypomodification is particularly prominent in skeletal muscle. The patients show lactic acidosis and evidence of multiple mitochondrial respiratory-chain-complex deficiencies in skeletal muscle | Homo sapiens |
2.1.1.228 | additional information | three-dimensional enzyme model, overview | Homo sapiens |
2.1.1.228 | physiological function | methylation of G37 to form m1G acts to sterically block Watson-Crick base pairing and thereby both maintain an open loop conformation, by blocking base pairing with nucleotides elsewhere in the anticodon loop, and protect against frame shifting by preventing its interaction with the mRNA | Homo sapiens |