Full name: | tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial |
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Synonym: | NOL1/NOP2/Sun domain family member 3 |
GI: | 74733593 |
UniProt: | Q9H649 |
Alpha Fold Predicted Structure: | AF-Q9H649-F1 |
Enzyme type: | methyltransferase |
MLTQLKAKSEGKLAKQICKVVLDHFEKQYSKELGDAWNTVREILTSPSCWQYAVLLNRFNYPFELEKDLHLKGYHTLSQGSLPNYPKSVKCYLSRTPGRIPSERHQIGNLKKYYLLNAASLLPVLALELRDGEKVLDLCAAPGGKSIALLQCACPGYLHCNEYDSLRLRWLRQTLESFIPQPLINVIKVSELDGRKMGDAQPEMFDKVLVDAPCSNDRSWLFSSDSQKASCRISQRRNLPLLQIELLRSAIKALRPGGILVYSTCTLSKAENQDVISEILNSHGNIMPMDIKGIARTCSHDFTFAPTGQECGLLVIPDKGKAWGPMYVAKLKKSWSTGKW
Alpha Fold Pdb Files | AF-Q9H649-F1.pdb   |
Alpha Fold Pdbx/mmCIF Files | AF-Q9H649-F1.cif   |
DSSP Secondary Structures | Q9H649.dssp   |
Description | Reaction | Disease Name |
---|---|---|
NSUN3-dependent modification of mt-tRNAMet is a necessary intermediate step towards the formation of 5-formylcytosine (f5C) in mtRNA | C:m5C | Combined mitochondrial respiratory chain complex deficiency |
Title | Authors | Journal | Details | ||
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NSUN3 methylase initiates 5-formylcytidine biogenesis in human mitochondrial tRNA(Met). | Nakano S | Nat Chem Biol. | [details] | 27214402 | 10.1038/nchembio.2099 |
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3. | Van Haute L, Dietmann S, Kremer L, Hussain S, Pearce SF, Powell CA, Rorbach J, Lantaff R, Blanco S, Sauer S, Kotzaeridou U, Hoffmann GF, Memari Y, Kolb-Kokocinski A, Durbin R, Mayr JA, Frye M, Prokisch H, Minczuk M | Nat Commun. | [details] | 27356879 | 10.1038/ncomms12039 |
NSUN3 and ABH1 modify the wobble position of mt-tRNAMet to expand codon recognition in mitochondrial translation. | Haag S, Sloan KE, Ranjan N, Warda AS, Kretschmer J, Blessing C, Hübner B, Seikowski J, Dennerlein S, Rehling P, Rodnina MV, Höbartner C, Bohnsack MT | ENBO J. | [details] | 27497299 | 10.15252/embj.201694885 |