EMG1

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 (Mouse) Chr. Chromosome 6 (mouse) Band 6 F2|6 59.17 cM Start 124,681,048 bp End 124,689,141 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in islet of Langerhans stromal cell of endometrium left ventricle right adrenal gland right lobe of thyroid gland appendix left uterine tube left lobe of thyroid gland oocyte left adrenal gland Top expressed in medial ganglionic eminence maxillary prominence somite endocardial cushion thymus abdominal wall morula primitive streak crypt of lieberkuhn of small intestine dermis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function methyltransferase activity transferase activity rRNA binding protein binding rRNA (pseudouridine) methyltransferase activity RNA binding Cellular component cytoplasm small-subunit processome nucleoplasm 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 n/a ENSMUSG00000004268 UniProt Q92979 O35130 RefSeq (mRNA) NM_006331 NM_001320049 NM_013536 RefSeq (protein) NP_001306978 NP_006322 NP_038564 Location (UCSC) n/a Chr 6: 124.68 – 124.69 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

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

Further reading

• Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH, 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, Leung AK, Lam YW, Steen H, et al. (2002). "Directed proteomic analysis of the human nucleolus". Curr. Biol. 12 (1): 1–11. Bibcode:2002CBio...12....1A. doi:10.1016/S0960-9822(01)00650-9. PMID 11790298. S2CID 14132033.
• Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, 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, Granneman S, Baserga SJ (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, Ota T, Nishikawa T, Yamashita R, 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.