EMG1
| EMG1 N1-specific pseudouridine methyltransferase | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | EMG1 ; C2F; Grcc2f; NEP1 | ||||||||||||
| External IDs | OMIM: 611531 MGI: 1315195 HomoloGene: 4617 GeneCards: EMG1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 10436 | 14791 | |||||||||||
| Ensembl | ENSG00000126749 | ENSMUSG00000004268 | |||||||||||
| UniProt | Q92979 | O35130 | |||||||||||
| RefSeq (mRNA) | NM_006331 | NM_013536 | |||||||||||
| RefSeq (protein) | NP_006322 | NP_038564 | |||||||||||
| Location (UCSC) |
Chr 12: 6.97 – 6.98 Mb |
Chr 6: 124.7 – 124.71 Mb | |||||||||||
| PubMed search | |||||||||||||
Probable ribosome biogenesis protein NEP1 or EMG1 is a protein that in humans is encoded by the EMG1 gene.[1][2][3] A D86G mutation in the protein has been associated with Bowen-Conradi syndrome.
References
- ↑ 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.
- ↑ 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.
- ↑ "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.
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