Aliases for EMG1 Gene
- EMG1 N1-Specific Pseudouridine Methyltransferase 2 3
- 18S RRNA (Pseudouridine(1248)-N1)-Methyltransferase 3 4
- 18S RRNA Psi1248 Methyltransferase 3 4
- Ribosome Biogenesis Protein NEP1 3 4
- C2F 3 4
- 18S RRNA (Pseudouridine-N1-)-Methyltransferase NEP1 3
- EMG1 Nucleolar Protein Homolog (S. Cerevisiae) 2
- EMG1 Nucleolar Protein Homolog 3
External Ids for EMG1 Gene
Previous GeneCards Identifiers for EMG1 Gene
This gene encodes an essential, conserved eukaryotic protein involved in ribosome biogenesis. In yeast, the related protein is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome.[provided by RefSeq, May 2010]
GeneCards Summary for EMG1 Gene
EMG1 (EMG1 N1-Specific Pseudouridine Methyltransferase) is a Protein Coding gene. Diseases associated with EMG1 include bowen-conradi syndrome. Among its related pathways are Ribosome biogenesis in eukaryotes. GO annotations related to this gene include poly(A) RNA binding and methyltransferase activity.
UniProtKB/Swiss-Prot for EMG1 Gene
S-adenosyl-L-methionine-dependent pseudouridine N(1)-methyltransferase that methylates pseudouridine at position 1248 (Psi1248) in 18S rRNA. Involved the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) conserved in eukaryotic 18S rRNA. Is not able to methylate uridine at this position (PubMed:20047967). Has also an essential role in 40S ribosomal subunit biogenesis independent on its methyltransferase activity, facilitating the incorporation of ribosomal protein S19 during the formation of pre-ribosomes (By similarity).