Recombinant Human Ribosomal RNA small subunit methyltransferase NEP1 (EMG1)

Uniprot Id

Q92979

Target Species

Human

Target Name

EMG1

Target Full Name

Ribosomal RNA small subunit methyltransferase NEP1

Target Function

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. 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.

Target Involvement

Bowen-Conradi syndrome (BWCNS)

Target Subcellular Location

Nucleus, nucleolus.

Target Protein Families

Class IV-like SAM-binding methyltransferase superfamily, RNA methyltransferase NEP1 family

Target Synonyms

18S rRNA (pseudouridine(1248)-N1)-methyltransferase; 18S rRNA Psi1248 methyltransferase; C2F ; C2f protein; EMG 1; EMG1; EMG1 N1 specific pseudouridine methyltransferase; EMG1 nucleolar protein homolog (S cerevisiae); EMG1 nucleolar protein homolog; essential for mitotic growth 1; FLJ60792; Grcc2f ; NEP1 ; NEP1_HUMAN; Nucleolar protein EMG1 homolog; Protein C2f; Ribosomal RNA small subunit methyltransferase Nep1; Ribosome biogenesis protein NEP1

Target Background

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.