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)
End	124,689,141 bp
RNA expression pattern
	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
	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
	10436
	14791
	n/a
	ENSMUSG00000004268
	Q92979
	O35130
	NM_006331; NM_001320049
	NM_013536
	NP_001306978; NP_006322
	NP_038564
	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

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000004268 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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)".

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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
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. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.

[refGRCm38Ensembl-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.

[pmid9074930-4] 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.

[pmid11935223-5] 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.

[entrez-6] "Entrez Gene: EMG1 EMG1 nucleolar protein homolog (S. cerevisiae)".

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[3]

[4]

[5]

[6]

References

Further reading