EMG1 : EMG1 N1-specific pseudouridine methyltransferase


Description

The EMG1 (EMG1 N1-specific pseudouridine methyltransferase) is a protein-coding gene located on chromosome 12.

The EMG1 gene provides instructions for making a protein that is involved in the production of cellular structures called ribosomes, which process the cell's genetic instructions to create new proteins. Ribosomes are assembled in a cell compartment called the nucleolus. The EMG1 protein is involved in the assembly of a part of the ribosome called the small subunit (SSU). In this role, the EMG1 protein functions as part of a protein complex called the SSU processome. In addition to helping to assemble the SSU, the SSU processome is involved in the maturation of a molecule called 18S rRNA, which is a chemical cousin of DNA that is incorporated into the SSU.

The EMG1 protein acts as an S-adenosyl-L-methionine-dependent pseudouridine N(1)-methyltransferase, modifying pseudouridine at position 1248 (Psi1248) within the 18S rRNA. This methylation is crucial for the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi), a conserved modification in eukaryotic 18S rRNA. Notably, EMG1 cannot methylate uridine at this position. Beyond its methyltransferase activity, EMG1 plays a vital role in 40S ribosomal subunit biogenesis. It facilitates the incorporation of ribosomal protein S19 during pre-ribosome formation. As a component of the SSU processome, EMG1 participates in the assembly of the small subunit (SSU) of the ribosome. This process occurs in the nucleolus, where numerous ribosome biogenesis factors, an RNA chaperone, and ribosomal proteins collaborate with nascent pre-rRNA to achieve RNA folding, modifications, rearrangements, and cleavage, as well as targeted degradation of pre-ribosomal RNA by the RNA exosome.

EMG1 is also known as C2F, Grcc2f, NEP1.

Associated Diseases


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