EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248

Stable Identifier
Reaction [transition]
Homo sapiens
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EMG1 (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.
Literature References
PubMed ID Title Journal Year
19463982 Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome

Triggs-Raine, B, Cattini, PA, Wrogemann, K, Meyer, B, Greenberg, CR, Khatkar, S, Entian, KD, Armistead, J, Mark, BL, Lamont, RE, Coghlan, G, Zelinski, T, Liu, S, Koetter, P, Wiechert, J, Patel, N

Am. J. Hum. Genet. 2009
11935223 Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis

Kötter, P, Eschrich, D, Buchhaupt, M, Entian, KD

Curr. Genet. 2002
20047967 The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase

Kötter, P, Held, M, Wurm, JP, Bahr, U, Wöhnert, J, Engels, JW, Meyer, B, Heckel, A, Entian, KD, Frolow, O, Karas, M

Nucleic Acids Res. 2010
Event Information
Go Biological Process
Catalyst Activity

rRNA (pseudouridine) methyltransferase activity of SSU Processome [nucleoplasm]

Inferred From
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