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Details on Person EMG1 (NEP1) methylates a pseudouridine residue in precursor ...

Class:IdSummation:6793740
_displayNameEMG1 (NEP1) methylates a pseudouridine residue in precursor ...
_timestamp2015-09-04 01:08:28
created[InstanceEdit:6793711] May, Bruce, 2015-09-04
textEMG1 (NEP1) methylates a pseudouridine residue in precursor rRNA (pre-rRNA) to yield N(1)-methylpseudouridine (Wurm et al. 2010 and inferred from the yeast homolog) in the nucleolus (Eschrich et al. 2002). Following further modification and nucleolytic processing, the N(1)-methylpseduouridine residue will become N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine-1248 of the 18S rRNA. A mutation in EMG1 causes Bowen-Conradi Syndrome, which is characterized by growth retardation, microcephaly, severe psychomotor delay, and minor external abnormalities (Armistead et al. 2009). As inferred from the yeast homolog, EMG1 is a component of the small subunit processome (SSU processome) a large complex of proteins that binds the 5' region of pre-rRNA, processes and modifies the 18S rRNA, and assists the assembly of the small ribosomal subunit.
(summation)[Reaction:6790906] EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248 [Homo sapiens]
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