EMG1

Probable ribosome biogenesis protein NEP1 or EMG1 is a protein that in humans is encoded by the EMG1 gene.[5][6][7] A D86G mutation in the protein has been associated with Bowen-Conradi syndrome.

EMG1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5FAI
Identifiers
Aliases	EMG1, C2F, Grcc2f, NEP1, N1-specific pseudouridine methyltransferase, EMG1 N1-specific pseudouridine methyltransferase
External IDs	OMIM: 611531 MGI: 1315195 HomoloGene: 4617 GeneCards: EMG1
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p13.31 Start 6,970,913 bp[1] End 6,997,428 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 F2|6 59.17 cM Start 124,704,085 bp[2] End 124,712,178 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • methyltransferase activity • transferase activity • rRNA binding • GO:0001948 protein binding • rRNA (pseudouridine) methyltransferase activity • RNA binding Cellular component • cytoplasm • small-subunit processome • nucleoplasm • cell nucleus • nucleolus Biological process • rRNA base methylation • methylation • ribosomal small subunit biogenesis • ribosome biogenesis • maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) • rRNA processing • blastocyst development • nucleologenesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	10436	14791
Ensembl	ENSG00000126749	ENSMUSG00000004268
UniProt	Q92979	O35130
RefSeq (mRNA)	NM_006331 NM_001320049	NM_013536
RefSeq (protein)	NP_001306978 NP_006322	NP_038564
Location (UCSC)	Chr 12: 6.97 – 7 Mb	Chr 6: 124.7 – 124.71 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

References

1. GRCh38: Ensembl release 89: ENSG00000126749 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000004268 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Ansari-Lari MA, Shen Y, Muzny DM, Lee W, Gibbs RA (May 1997). "Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination". Genome Res. 7 (3): 268–80. doi:10.1101/gr.7.3.268. PMID 9074930.
6. Eschrich D, Buchhaupt M, Kotter P, Entian KD (Apr 2002). "Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis". Curr Genet. 40 (5): 326–38. doi:10.1007/s00294-001-0269-4. PMID 11935223.
7. "Entrez Gene: EMG1 EMG1 nucleolar protein homolog (S. cerevisiae)".

Further reading

• Adams MD, Kerlavage AR, Fleischmann RD, et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence" (PDF). Nature. 377 (6547 Suppl): 3–174. PMID 7566098.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Andersen JS, Lyon CE, Fox AH, et al. (2002). "Directed proteomic analysis of the human nucleolus". Curr. Biol. 12 (1): 1–11. doi:10.1016/S0960-9822(01)00650-9. PMID 11790298.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Bernstein KA, Gallagher JE, Mitchell BM, et al. (2005). "The Small-Subunit Processome Is a Ribosome Assembly Intermediate". Eukaryotic Cell. 3 (6): 1619–26. doi:10.1128/EC.3.6.1619-1626.2004. PMC 539036. PMID 15590835.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.