RRNA small subunit pseudouridine methyltransferase Nep1 explained

RRNA small subunit pseudouridine methyltransferase Nep1
Ec Number:	2.1.1.260

RRNA small subunit pseudouridine methyltransferase Nep1 (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

\rightleftharpoons 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]

Notes and References

1. Taylor AB, Meyer B, Leal BZ, Kötter P, Schirf V, Demeler B, Hart PJ, Entian KD, Wöhnert J . 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 . March 2008 . 18208838 . 2275143 . 10.1093/nar/gkm1172 .
2. Wurm JP, Meyer B, Bahr U, Held M, Frolow O, Kötter P, Engels JW, Heckel A, Karas M, Entian KD, Wöhnert J . The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase . Nucleic Acids Research . 38 . 7 . 2387–98 . April 2010 . 20047967 . 2853112 . 10.1093/nar/gkp1189 .
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 . 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 . March 2011 . 20972225 . 3045603 . 10.1093/nar/gkq931 .
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 . 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 . 2011 . 39 . 4 . 1526–37 . 10.1093/nar/gkq931 . 20972225 . 3045603 .
5. Wurm JP, Meyer B, Bahr U, Held M, Frolow O, Kotter P, Engels JW, Heckel A, Karas M, Entian KD, Wöhnert J . The ribosome assembly factor Nep1 responsible for Bowen-Conradi syndrome is a pseudouridine-N1-specific methyltransferase . Nucleic Acids Res . 2010 . 38 . 7 . 2387–98 . 10.1093/nar/gkp1189 . 20047967 . 2853112 .