TRMT10C
Function
Mitochondrial tRNA N(1)-methyltransferase involved in mitochondrial tRNA maturation (PubMed:18984158, PubMed:21593607, PubMed:23042678, PubMed:27132592). Component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3, which cleaves tRNA molecules in their 5'-ends (PubMed:18984158). Together with HSD17B10/MRPP2, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; TRMT10C/MRPP1 acting as the catalytic N(1)-methyltransferase subunit (PubMed:23042678). The MRPP1-MRPP2 subcomplex also acts as a tRNA maturation platform: following 5'-end cleavage by the mitochondrial ribonuclease P complex, the MRPP1-MRPP2 subcomplex enhances the efficiency of 3'-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705). In addition to tRNA N(1)-methyltransferase activity, TRMT10C/MRPP1 also acts as a mRNA N(1)-methyltransferase by mediating methylation of adenosine residues at the N(1) position of MT-ND5 mRNA (PubMed:29072297). Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly.
Involvement in disease
Combined oxidative phosphorylation deficiency 30
COXPD30
An autosomal recessive, severe mitochondrial disease characterized by lactic acidosis, hypotonia, feeding difficulties, deafness, and respiratory failure with fatal issue. Patient skeletal muscle cells show decreased activities of mitochondrial complexes I, III and IV.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class IV-like SAM-binding methyltransferase superfamily. TRM10 family.
Cellular localization
- Mitochondrion matrix
- Mitochondrion nucleoid
Alternative names
MRPP1, RG9MTD1, TRMT10C, tRNA methyltransferase 10 homolog C, HBV pre-S2 trans-regulated protein 2, Mitochondrial ribonuclease P protein 1, RNA (guanine-9-)-methyltransferase domain-containing protein 1, Renal carcinoma antigen NY-REN-49, mRNA methyladenosine-N(1)-methyltransferase, tRNA (adenine(9)-N(1))-methyltransferase, tRNA (guanine(9)-N(1))-methyltransferase, Mitochondrial RNase P protein 1