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
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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.
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Wurm JP, Meyer B, Bahr U, Held M, Frolow O, Kötter P, Engels JW, Heckel A, Karas M, Entian KD, Wöhnert J (April 2010). "The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase". Nucleic Acids Research. 38 (7): 2387–98. doi:10.1093/nar/gkp1189. PMC 2853112. PMID 20047967.
Meyer B, Wurm JP, Kötter P, Leisegang MS, Schilling V, Buchhaupt M, Held M, Bahr U, Karas M, Heckel A, Bohnsack MT, Wöhnert J, Entian KD (March 2011). "The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Ψ1191 in yeast 18S rRNA". Nucleic Acids Research. 39 (4): 1526–37. doi:10.1093/nar/gkq931. PMC 3045603. PMID 20972225.
Meyer B, Wurm JP, Kotter P, Leisegang MS, Schilling V, Buchhaupt M, Held M, Bahr U, Karas M, Heckel A, Bohnsack MT, Wöhnert J, Entian KD (2011). "The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Psi 1191 in yeast 18S rRNA". Nucleic Acids Res. 39 (4): 1526–37. doi:10.1093/nar/gkq931. PMC 3045603. PMID 20972225.{{cite journal}}
: CS1 maint: multiple names: authors list (link)
Wurm JP, Meyer B, Bahr U, Held M, Frolow O, Kotter P, Engels JW, Heckel A, Karas M, Entian KD, Wöhnert J (2010). "The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase". Nucleic Acids Res. 38 (7): 2387–98. doi:10.1093/nar/gkp1189. PMC 2853112. PMID 20047967.{{cite journal}}
: CS1 maint: multiple names: authors list (link)