Full name: | Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase |
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Synonym: | JM23 CDLIV SPB1 TRM7 TRMT7 |
GI: | 12643879 |
UniProt: | Q9UET6 |
Alpha Fold Predicted Structure: | AF-Q9UET6-F1 |
Enzyme type: | methyltransferase |
MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMAPLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRGRDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGDLSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEMEDNEMSCSP
Reaction | Substrate | SubstrateType | Position | (Anti)Codon | Modified (Anti)Codon | Amino Acid Change | Transcript Name | Transcript Region | Cellular Localization | References |
---|---|---|---|---|---|---|---|---|---|---|
N:Nm | undefined RNA () |
Alpha Fold Pdb Files | AF-Q9UET6-F1.pdb   |
Alpha Fold Pdbx/mmCIF Files | AF-Q9UET6-F1.cif   |
DSSP Secondary Structures | Q9UET6.dssp   |
Description | Reaction | Disease Name |
---|---|---|
2’-O-methylation of tRNAPhe may impact the development. | N:Nm | Nonsyndromic X-Linked Intellectual Disability |
Title | Authors | Journal | Details | ||
---|---|---|---|---|---|
A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9). | Ramser J, Winnepenninckx B, Lenski C, Errijgers V, Platzer M, Schwartz CE, Meindl A, Kooy RF... | J Med Genet | [details] | 15342698 | - |
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. | Freude K, Hoffmann K, Jensen LR, Delatycki MB, des Portes V, Moser B, Hamel B, van Bokhoven H, Moraine C, Fryns JP, Chelly J, Gecz J, Lenzner S, Kalscheuer VM, Ropers HH... | Am J Hum Genet | [details] | 15162322 | - |