EMG1

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]

Description

EMG1 N1-specific pseudouridine methyltransferase

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

12:p13.31 (6970913 - 6997428)

Ensembl ID

ENSG00000126749  (ver. 99.38)

Orthologs

Mouse Emg1: ENSMUSG00000004268

UniProt

Q92979

neXtProt

NX_Q92979

Human splice variants
Mouse splice variants