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; OMA:EMG1 - orthologs
Gene location (Mouse) Chr. Chromosome 6 (mouse) [1] Band 6 F2|6 59.17 cM Start 124,681,048 bp [1] End 124,689,141 bp [1]
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 mandibular prominence maxillary prominence somite endocardial cushion thymus fetal liver hematopoietic progenitor cell abdominal wall epiblast migratory enteric neural crest cell 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 [2] [3]
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. ^{[4] [5] [6]} A D86G mutation in the protein has been associated with Bowen-Conradi syndrome.

References

1. GRCm38: Ensembl release 89: ENSMUSG00000004268 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. 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.
5. 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. S2CID   6423295.
6. "Entrez Gene: EMG1 EMG1 nucleolar protein homolog (S. cerevisiae)".

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.