MRM2
entrez
29960
canonical
uniprot
Q9UI43
canonical
ensembl
ENSG00000122687
resolver
ensp
ENSP00000242257
resolver
ensp
ENSP00000392343
resolver
enst
ENST00000242257
resolver
enst
ENST00000440306
resolver
genesymbol
HEL97
resolver
genesymbol
MRM2
resolver
genesymbol_syn
FJH1
resolver
genesymbol_syn
FTSJ2
resolver
hgnc
HGNC:16352
resolver
uniprot
Q24JR8
resolver
uniprot
V9HWJ9
resolver
uniprot_entry
MRM2_HUMAN
resolver
uniprot_entry
V9HWJ9_HUMAN
resolver
uniprot_sec
Q24JR8
resolver
amino_acid_sequence
MAGYLKLVCVSFQRQGFHTVGSRCKNRTGAEHLWLTRHLRDPFVKAAKVESYRCRSAFKLLEVNERHQILRPGLRVLDCGAAPGAWSQVAVQKVNAAGTDPSSPVGFVLGVDLLHIFPLEGATFLCPADVTDPRTSQRILEVLPGRRADVILSDMAPNATGFRDLDHDRLISLCLTLLSVTPDILQPGGTFLCKTWAGSQSRRLQRRLTEEFQNVRIIKPEASRKESSEVYFLATQYHGRKGTVKQ
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial DNA depletion syndrome 17 (MTDPS17) [MIM:618567]: An autosomal recessive mitochondrial disorder characterized by childhood onset of rapidly progressive encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, multiple defects of oxidative phosphorylation, mitochondrial complex I and IV deficiency, and reduced mtDNA copy number. {ECO:0000269|PubMed:28973171}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.-
uniprot
proteins
function
FUNCTION: S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA (PubMed:25009282, PubMed:25074936, PubMed:35177605). This activity may require prior 2'-O-methylguanosine modification at position 1370 (Gm1370) by MRM3 (PubMed:35177605). Essential for late-stage assembly of mtLSU required for efficient translation of mitochondrial DNA encoded proteins; methyltransferase activity is not required for this function (PubMed:35177605). Essential for mitochondrial respiratory function (PubMed:35177605). {ECO:0000269|PubMed:25009282, ECO:0000269|PubMed:25074936, ECO:0000269|PubMed:35177605}.
uniprot
proteins
mass_dalton
27424
uniprot
proteins
mutagenesis
MUTAGEN 59; /note="K->A: Loss of methyltransferase activity. Does not modify mtLSU rRNA (Um1369) but still functions as an mtLSU assembly factor."; /evidence="ECO:0000269|PubMed:35177605"; MUTAGEN 154; /note="D->A: Loss of methyltransferase activity. Does not modify mtLSU rRNA (Um1369) but still functions as an mtLSU assembly factor."; /evidence="ECO:0000269|PubMed:35177605
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
RNA methyltransferase RlmE family
uniprot
proteins
pubmed
11827451
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24036117
uniprot
proteins
pubmed
25009282
uniprot
proteins
pubmed
25074936
uniprot
proteins
pubmed
28973171
uniprot
proteins
pubmed
35177605
uniprot
proteins
sequence_length
246
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:24036117, ECO:0000269|PubMed:25009282}.
uniprot
proteins