5fai
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EMG1 N1-Specific Pseudouridine Methyltransferase
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Structural highlights
DiseaseNEP1_HUMAN Bowen-Conradi syndrome. The disease is caused by mutations affecting the gene represented in this entry. FunctionNEP1_HUMAN S-adenosyl-L-methionine-dependent pseudouridine N(1)-methyltransferase that methylates pseudouridine at position 1248 (Psi1248) in 18S rRNA. Involved the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) conserved in eukaryotic 18S rRNA. Is not able to methylate uridine at this position (PubMed:20047967). Has also an essential role in 40S ribosomal subunit biogenesis independent on its methyltransferase activity, facilitating the incorporation of ribosomal protein S19 during the formation of pre-ribosomes (By similarity).[UniProtKB:Q06287][1] References
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This page was last modified 06:44, 19 July 2023.