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RRNA small subunit pseudouridine methyltransferase Nep1
From Wikipedia, the free encyclopedia
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RRNA small subunit pseudouridine methyltransferase Nep1 (EC 2.1.1.260, Nep1, nucleolar essential protein 1) is an enzyme with systematic name S-adenosyl-L-methionine:18S rRNA (pseudouridine1191-N1)-methyltransferase.[1][2][3] This enzyme catalyses the following chemical reaction
- S-adenosyl-L-methionine + pseudouridine1191 in yeast 18S rRNA S-adenosyl-L-homocysteine + N1-methylpseudouridine1191 in yeast 18S rRNA
This enzyme recognizes specific pseudouridine residues (Psi) in small subunits of ribosomal RNA based on the local RNA structure.
A point mutation in the ribosome biogenesis factor Nep1 impairs its nucleolar localisation and RNA binding and causes the Bowen-Conradi syndrome. [4] .[5]
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