TRMT10C
entrez
54931
canonical
uniprot
Q7L0Y3
canonical
ensembl
ENSG00000174173
resolver
ensp
ENSP00000312356
resolver
enst
ENST00000309922
resolver
genesymbol
TRMT10C
resolver
genesymbol_syn
MRPP1
resolver
genesymbol_syn
RG9MTD1
resolver
hgnc
HGNC:26022
resolver
uniprot
Q9NRG5
resolver
uniprot
Q9NX54
resolver
uniprot
Q9Y596
resolver
uniprot_entry
TM10C_HUMAN
resolver
uniprot_sec
Q9NRG5
resolver
uniprot_sec
Q9NX54
resolver
uniprot_sec
Q9Y596
resolver
amino_acid_sequence
MAAFLKMSVSVNFFRPFTRFLVPFTLHRKRNNLTILQRYMSSKIPAVTYPKNESTPPSEELELDKWKTTMKSSVQEECVSTISSSKDEDPLAATREFIEMWRLLGREVPEHITEEELKTLMECVSNTAKKKYLKYLYTKEKVKKARQIKKEMKAAAREEAKNIKLLETTEEDKQKNFLFLRLWDRNMDIAMGWKGAQAMQFGQPLVFDMAYENYMKRKELQNTVSQLLESEGWNRRNVDPFHIYFCNLKIDGALHRELVKRYQEKWDKLLLTSTEKSHVDLFPKDSIIYLTADSPNVMTTFRHDKVYVIGSFVDKSMQPGTSLAKAKRLNLATECLPLDKYLQWEIGNKNLTLDQMIRILLCLKNNGNWQEALQFVPKRKHTGFLEISQHSQEFINRLKKAKT
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 30 (COXPD30) [MIM:616974]: 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. {ECO:0000269|PubMed:27132592}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.-
uniprot
proteins
ec_number
2.1.1.218
uniprot
proteins
ec_number
2.1.1.221
uniprot
proteins
function
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. {ECO:0000269|PubMed:18984158, ECO:0000269|PubMed:21593607, ECO:0000269|PubMed:23042678, ECO:0000269|PubMed:24703694, ECO:0000269|PubMed:27132592, ECO:0000269|PubMed:29040705, ECO:0000269|PubMed:29072297}.
uniprot
proteins
mass_dalton
47347
uniprot
proteins
mutagenesis
MUTAGEN 314; /note="D->N: Abolished mitochondrial tRNA methylation. Does not affect mitochondrial tRNA 5'-end processing."; /evidence="ECO:0000269|PubMed:23042678
uniprot
proteins
protein_family
Class IV-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
TRM10 family
uniprot
proteins
pubmed
10508479
uniprot
proteins
pubmed
12546731
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18984158
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21593607
uniprot
proteins
pubmed
23042678
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23473034
uniprot
proteins
pubmed
24703694
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27132592
uniprot
proteins
pubmed
29040705
uniprot
proteins
pubmed
29072297
uniprot
proteins
pubmed
29107537
uniprot
proteins
sequence_length
403
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:18984158, ECO:0000269|PubMed:23473034, ECO:0000269|PubMed:24703694}.
uniprot
proteins