Modomics - A Database of RNA Modifications

ID Card:

Full name:	Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase
Synonym:	JM23 CDLIV SPB1 TRM7 TRMT7
GI:	12643879
UniProt:	Q9UET6
Alpha Fold Predicted Structure:	AF-Q9UET6-F1
Enzyme type:	methyltransferase

Protein sequence:

MGRTSKDKRDVYYRLAKENGWRARSAFKLLQLDKEFQLFQGVTRAVDLCAAPGSWSQVLSQKIGGQGSGHVVAVDLQAMAPLPGVVQIQGDITQLSTAKEIIQHFKGCPADLVVCDGAPDVTGLHDVDEYMQAQLLLAALNIATHVLKPGGCFVAKIFRGRDVTLLYSQLQVFFSSVLCAKPRSSRNSSIEAFAVCQGYDPPEGFIPDLSKPLLDHSYDPDFNQLDGPTRIIVPFVTCGDLSSYDSDRSYPLDLEGGSEYKYTPPTQPPISPPYQEACTLKRKGQLAKEIRPQDCPISRVDTFPQPLAAPQCHTLLAPEMEDNEMSCSP

Comments:

Search:

Reaction	Substrate	SubstrateType	Position	(Anti)Codon	Modified (Anti)Codon	Amino Acid Change	Transcript Name	Transcript Region	Cellular Localization	References
N:Nm	undefined RNA ()


N:Nm

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Alpha Fold Predicted Structure:

Processing file... [297258/297258]

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Protein sequence:

M G R T S K D K R D V Y Y R L A K E N G W R A R S A F K L L Q L D K E F Q L F Q G V T R A V D L C A A P G S W S Q V L S Q K I G G Q G S G H V V A V D L Q A M A P L P G V V Q I Q G D I T Q L S T A K E I I Q H F K G C P A D L V V C D G A P D V T G L H D V D E Y M Q A Q L L L A A L N I A T H V L K P G G C F V A K I F R G R D V T L L Y S Q L Q V F F S S V L C A K P R S S R N S S I E A F A V C Q G Y D P P E G F I P D L S K P L L D H S Y D P D F N Q L D G P T R I I V P F V T C G D L S S Y D S D R S Y P L D L E G G S E Y K Y T P P T Q P P I S P P Y Q E A C T L K R K G Q L A K E I R P Q D C P I S R V D T F P Q P L A A P Q C H T L L A P E M E D N E M S C S P

Secondary Structure Alphabet

G: 3-turn helix (3₁₀helix)
H: α-helix
I: 𝝅-helix (5 - turn helix)
T: Hydrogen Bonded Turn
B: β-sheet
S: Bend
C: Coil (residues not present in any of the above conformations)
N: Not assigned

Download PDB Structures & DSSP Secondary Structures:

Alpha Fold Pdb Files	AF-Q9UET6-F1.pdb
Alpha Fold Pdbx/mmCIF Files	AF-Q9UET6-F1.cif
DSSP Secondary Structures	Q9UET6.dssp

Diseases connected to this enzyme:

Search:

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


2’-O-methylation of tRNAPhe may impact the development.

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Publications:

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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	-


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).
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.

Showing 1 to 2 of 2 entries