Ribosomal RNA small subunit methyltransferase NEP1

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). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797).

Bowen-Conradi syndrome

BWCNS

A combination of malformations characterized in newborns by low birth weight, microcephaly, mild joint restriction, a prominent nose, micrognathia, fifth finger clinodactyly, and 'rocker-bottom' feet. The syndrome is transmitted as an autosomal recessive trait. The prognosis is poor, with all infants dying within the first few months of life.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase NEP1 family.

• Nucleus
• Nucleolus

C2F, EMG1, Ribosomal RNA small subunit methyltransferase NEP1, 18S rRNA (pseudouridine(1248)-N1)-methyltransferase, 18S rRNA Psi1248 methyltransferase, Nucleolar protein EMG1 homolog, Protein C2f, Ribosome biogenesis protein NEP1

• entrezGene:10436
• omim:611531
• swissprot:Q92979

Proteins

Metabolism

26720Da