Modomics - A Database of RNA Modifications

Full name: FtsJ RNA methyltransferase homolog 1
Synonym: JM23 CDLIV SPB1 TRM7 TRMT7
GI: None
Orf:
COG:
UniProt:
Structures: | Q9UET6 |
Complex:
Enzyme type: methyltransferase
Position of modification - modification:

Comments:



Protein sequence:

>sp|Q9UET6|TRM7_HUMANPutativetRNA(cytidine(32)/guanosine(34)-2'-O)-methyltransferaseOS=HomosapiensOX
=9606GN=FTSJ1PE=1SV=2MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAM
APLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRGRDVTLLYSQLQVFFSSVLC
AKPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGDLSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACT
LKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEMEDNEMSCSP


Diseases connected to this enzyme:

Description Reaction Disease Name
2’-O-methylation of tRNAPhe may impact the development. xX:Xm
Nonsyndromic X-Linked Intellectual Disability

Publications:

Title Authors Journal Details PubMed Id DOI
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 -

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