YLR186W
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| Systematic name | YLR186W |
| Gene name | EMG1 |
| Aliases | NEP1 |
| Feature type | ORF, Verified |
| Coordinates | Chr XII:523632..524390 |
| Primary SGDID | S000004176 |
Description of YLR186W: Methyltransferase for rRNA; catalyzes methylation of the pseudouridine residue 1191 of 18S rRNA; member of the SPOUT methyltransferase family; required for maturation of 18S rRNA and for 40S ribosomal subunit production independently of methyltransferase activity; forms homodimers; human ortholog is mutated in Bowen-Conradi syndrome, and the equivalent mutation in yeast affects Emg1p dimerization and localization but not its methyltransferase activity[1][2][3][4][5][6]
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References
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- ↑ Armistead J, et al. (2009) Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. Am J Hum Genet 84(6):728-39 SGD PMID 19463982
- ↑ Buchhaupt M, et al. (2006) Genetic evidence for 18S rRNA binding and an Rps19p assembly function of yeast nucleolar protein Nep1p. Mol Genet Genomics 276(3):273-84 SGD PMID 16721597
- ↑ Eschrich D, et al. (2002) Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis. Curr Genet 40(5):326-38 SGD PMID 11935223
- ↑ Leulliot N, et al. (2008) The yeast ribosome synthesis factor Emg1 is a novel member of the superfamily of alpha/beta knot fold methyltransferases. Nucleic Acids Res 36(2):629-39 SGD PMID 18063569
- ↑ Liu PC and Thiele DJ (2001) Novel stress-responsive genes EMG1 and NOP14 encode conserved, interacting proteins required for 40S ribosome biogenesis. Mol Biol Cell 12(11):3644-57 SGD PMID 11694595
- ↑ Meyer B, et al. (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 Psi1191 in yeast 18S rRNA. Nucleic Acids Res 39(4):1526-37 SGD PMID 20972225
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