NSUN3
entrez
63899
canonical
uniprot
Q9H649
canonical
ensembl
ENSG00000178694
resolver
ensp
ENSP00000318986
resolver
ensp
ENSP00000786424
resolver
enst
ENST00000314622
resolver
genesymbol
NSUN3
resolver
hgnc
HGNC:26208
resolver
uniprot
Q6PG41
resolver
uniprot
Q8IXG9
resolver
uniprot
Q9H6M2
resolver
uniprot_entry
NSUN3_HUMAN
resolver
uniprot_sec
Q6PG41
resolver
uniprot_sec
Q8IXG9
resolver
uniprot_sec
Q9H6M2
resolver
amino_acid_sequence
MLTQLKAKSEGKLAKQICKVVLDHFEKQYSKELGDAWNTVREILTSPSCWQYAVLLNRFNYPFELEKDLHLKGYHTLSQGSLPNYPKSVKCYLSRTPGRIPSERHQIGNLKKYYLLNAASLLPVLALELRDGEKVLDLCAAPGGKSIALLQCACPGYLHCNEYDSLRLRWLRQTLESFIPQPLINVIKVSELDGRKMGDAQPEMFDKVLVDAPCSNDRSWLFSSDSQKASCRISQRRNLPLLQIELLRSAIKALRPGGILVYSTCTLSKAENQDVISEILNSHGNIMPMDIKGIARTCSHDFTFAPTGQECGLLVIPDKGKAWGPMYVAKLKKSWSTGKW
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 48 (COXPD48) [MIM:619012]: An autosomal recessive, mitochondrial encephalomyopathy characterized by global developmental delay, microcephaly, failure to thrive, hypotonia, muscle weakness, external ophthalmoplegia, and seizures. Laboratory studies show metabolic acidosis, increased serum lactate, and combined oxidative phosphorylation deficiency in skeletal muscle. {ECO:0000269|PubMed:27356879, ECO:0000269|PubMed:32488845}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.-
uniprot
proteins
function
FUNCTION: Mitochondrial tRNA methyltransferase that mediates methylation of cytosine to 5-methylcytosine (m5C) at position 34 of mt-tRNA(Met) (PubMed:27214402, PubMed:27356879, PubMed:27497299). mt-tRNA(Met) methylation at cytosine(34) takes place at the wobble position of the anticodon and initiates the formation of 5-formylcytosine (f(5)c) at this position (PubMed:27214402, PubMed:27356879, PubMed:27497299). mt-tRNA(Met) containing the f(5)c modification at the wobble position enables recognition of the AUA codon in addition to the AUG codon, expanding codon recognition in mitochondrial translation (PubMed:27356879, PubMed:27497299). {ECO:0000269|PubMed:27214402, ECO:0000269|PubMed:27356879, ECO:0000269|PubMed:27497299}.
uniprot
proteins
mass_dalton
38244
uniprot
proteins
mutagenesis
MUTAGEN 214; /note="C->A: In C2A; catalytic mutant. Abolishes ability to methylate mt-tRNA(Met)."; /evidence="ECO:0000269|PubMed:27356879"; MUTAGEN 265; /note="C->A: Catalytic mutant. Abolishes ability to methylate mt-tRNA(Met)."; /evidence="ECO:0000269|PubMed:27497299
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
RsmB/NOP family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
27214402
uniprot
proteins
pubmed
27356879
uniprot
proteins
pubmed
27497299
uniprot
proteins
pubmed
32488845
uniprot
proteins
sequence_length
340
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:27214402, ECO:0000269|PubMed:27356879, ECO:0000269|PubMed:27497299}.
uniprot
proteins