InterPro domain: IPR005304
General Information
- Identifier IPR005304
- Description Ribosomal biogenesis, methyltransferase, EMG1/NEP1
- Number of genes 243
- Gene duplication stats Loading...
- Associated GO terms GO:0070475 GO:0070037
Abstract
8S rRNA (pseudouridine(1248)-N1)-methyltransferase Nep1 (also known as EMG1) methylates pseudouridine at position1248 (Psi1248) in 18S rRNA and is required for small subunit (SSU) ribosomal RNA (rRNA) maturation [ 1 ]. Mutations in the human homologue cause Bowen-Conradi Syndrome [ 2 ]. Nep1 is a member of the SPOUT (SpoU-TrmD) methyltransferase (MTase) superfamily, a large class of S-adenosyl-L-methionine (AdoMet or SAM)-dependent RNA MTases which are structurally characterized by a deep trefoil knot [ 3 , 4 ].
1. Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis. Curr. Genet. 40, 326-38
2. The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase. Nucleic Acids Res 38, 2387-98
3. The yeast ribosome synthesis factor Emg1 is a novel member of the superfamily of alpha/beta knot fold methyltransferases. Nucleic Acids Res. 36, 629-39
4. Structural insight into the functional mechanism of Nep1/Emg1 N1-specific pseudouridine methyltransferase in ribosome biogenesis. Nucleic Acids Res 39, 2445-57