EC Number |
Protein Variants |
Reference |
---|
2.1.1.203 | A37G |
naturally occurring mutation, mitochondrial disease-associated point mutations with the gene encoding mt-tRNAMet that lead to A37G substitution, impede methylation of C34 by NSUN3, lack of NSUN3-mediated modification impairs mitochondrial translation, leading to reduced mitochondrial function |
756866 |
2.1.1.203 | C39U |
naturally occurring mutation, mitochondrial disease-associated point mutations with the gene encoding mt-tRNAMet that lead to C39U substitution, impede methylation of C34 by NSUN3, lack of NSUN3-mediated modification impairs mitochondrial translation, leading to reduced mitochondrial function |
756866 |
2.1.1.203 | G679R |
site-directed mutaegensis, the mutation to arginine at this residue causes NSUN2 to fail to localize within the nucleolus |
718539 |
2.1.1.203 | K190M |
site-directed mutagenesis |
718539 |
2.1.1.203 | K190M |
site-directed mutagenesis, catalytically inactive mutant |
758103 |
2.1.1.203 | more |
combined knockdown of NSUN2 and METTL1, EC 2.1.1.33, in HeLa cells |
737060 |
2.1.1.203 | more |
generation of an insertion mutation in Drosophila NSun2 (NSun2DELTA21.5), which is viable and fertile and loses RNA methylation at known tRNA substrates. RNAi-mediated knockdown of NSun2 in follicle cells. Functional Gypsy retroviral particles can be formed in NSun2 mutants. Specific eccDNAs accumulate in RCMT mutants. RCMT mutants display reduced tRNA stability and tRNA abundance |
756399 |
2.1.1.203 | more |
generation of enzyme depeleted NSUN2-/- cells. Rescue for loss of NSUN2 by reexpressing the wild-type or enzymatic dead protein. The number of m5C per tRNA in all tRNAs or tRNA leucine is quantified by mass spectrometry in NSUN2-/- cells reexpressing wild-type NSUN2, the catalytically inactive NSUN2 K190M mutant, or the empty vector control. Reexpression of NSUN2 significantly restores 525 methylation sites when compared to the empty vector control and 431 sites when compared to K190M-overexpressing cells |
758103 |
2.1.1.203 | more |
generation of NSUN3 knockout cells. When the knockout strain is rescued by plasmid-encoded NSUN3, f5C34 in mt-tRNAMet is partially restored |
757733 |
2.1.1.203 | more |
mutation of the cysteine in motif IV in human NSUN3 to alanine or serine results in a stable covalent intermediate |
756866 |