Entity Details

Primary name TRMT5
Entity type gene
Source Source Link

Details

PrimaryID57570
RefseqGeneNG_053119
SymbolTRMT5
NametRNA methyltransferase 5
Chromosome14
Location14q23.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsTRM5_HUMAN

GO terms

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GOName
GO:0002939 tRNA N1-guanine methylation
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005759 mitochondrial matrix
GO:0008175 tRNA methyltransferase activity
GO:0009019 tRNA (guanine-N1-)-methyltransferase activity
GO:0030488 tRNA methylation
GO:0052906 tRNA (guanine(37)-N(1))-methyltransferase activity
GO:0070901 mitochondrial tRNA methylation

Diseases

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Disease IDSourceNameDescription
616539 OMIMCombined oxidative phosphorylation deficiency 26 (COXPD26)A mitochondrial disorder characterized by lactic acidosis, multiple mitochondrial respiratory-chain-complex deficiencies in skeletal muscle, and additional variable features including hypertrophic cardiomyopathy, exercise intolerance, and failure to thrive. The disease is caused by variants affecting the gene represented in this entry.