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RRNA small subunit pseudouridine methyltransferase Nep1

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RRNA small subunit pseudouridine methyltransferase Nep1
Identifiers
EC no.2.1.1.260
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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]

References

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  1. ^ Taylor AB, Meyer B, Leal BZ, Kötter P, Schirf V, Demeler B, Hart PJ, Entian KD, Wöhnert J (March 2008). "The crystal structure of Nep1 reveals an extended SPOUT-class methyltransferase fold and a pre-organized SAM-binding site". Nucleic Acids Research. 36 (5): 1542–54. doi:10.1093/nar/gkm1172. PMC 2275143. PMID 18208838.
  2. ^ 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.
  3. ^ 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.
  4. ^ 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)
  5. ^ 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)
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