EMG1

Gene Symbol EMG1
Entrez Gene 10436
Alt Symbol C2F, Grcc2f, NEP1
Species Human
Gene Type protein-coding
Description EMG1 N1-specific pseudouridine methyltransferase
Other Description 18S rRNA (pseudouridine(1248)-N1)-methyltransferase|18S rRNA (pseudouridine-N1-)-methyltransferase NEP1|18S rRNA Psi1248 methyltransferase|EMG1 nucleolar protein homolog|essential for mitotic growth 1|ribosomal RNA small subunit methyltransferase NEP1|ribosome biogenesis protein NEP1
Swissprots O00726 Q92979 O00675
Accessions AAB51325 EAW88694 EAW88695 EAW88696 EAW88697 EAW88698 Q92979 AA314580 AI394112 AK291597 BAF84286 AK298207 BAG60477 AK298745 BAG60889 AK307177 BC055314 AAH55314 BM709304 BQ015307 CD704778 DA070200 DC403138 HQ447756 ADQ32241 U56427 U72514 AAC51641 XM_011520907 XP_011519209 NM_006331 NP_006322
Function 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). {ECO:0000250|UniProtKB:Q06287, ECO:0000269|PubMed:20047967}.
Subcellular Location Nucleus, nucleolus {ECO:0000269|PubMed:11935223}.
Top Pathways Ribosome biogenesis in eukaryotes