| 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 |