Aliases for EMG1 Gene
- EMG1 N1-Specific Pseudouridine Methyltransferase 2 3 5
- 18S RRNA (Pseudouridine(1248)-N1)-Methyltransferase 3 4
- Ribosomal RNA Small Subunit Methyltransferase NEP1 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, N1-Specific Pseudouridine Methyltransferase 2
External Ids for EMG1 Gene
Previous GeneCards Identifiers for EMG1 Gene
This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
GeneCards Summary for EMG1 Gene
EMG1 (EMG1 N1-Specific Pseudouridine Methyltransferase) is a Protein Coding gene. Diseases associated with EMG1 include Bowen-Conradi Syndrome and Deafness, Autosomal Recessive 9. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. Gene Ontology (GO) annotations related to this gene include methyltransferase activity.
UniProtKB/Swiss-Prot Summary 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).