EMG1 N1-specific pseudouridine methyltransferase (EMG1 (also known as Nep1))

EMG1 N1-specific pseudouridine methyltransferase (EMG1, also known as Nep1) is an essential nucleolar protein that catalyzes the N1-methylation of pseudouridine (Ψ) at a specific position in 18S ribosomal RNA (typically Ψ1248/Ψ1191 depending on species)[2][3][4]. This modification is required for the synthesis of the hypermodified nucleotide m1acp3Ψ in eukaryotic 18S rRNA, which is critical for the proper assembly and function of the small ribosomal subunit. EMG1 functions both as a methyltransferase and as an assembly factor for ribosome biogenesis, facilitating incorporation of essential ribosomal proteins into the developing subunit. Mutations in EMG1, notably Asp86Gly, lead to Bowen-Conradi syndrome, a fatal ribosomopathy, by destabilizing the protein and impairing ribosome production, which drastically reduces cell growth and division[1][4].

Other names

18S rRNA (pseudouridine(1248)-N1)-methyltransferaseNEP118S rRNA Psi1248 methyltransferaseC2F

Not applicable. No drugs or chemical inhibitors reported that target EMG1.