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. S2CID 6423295.
^ "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.
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. S2CID 14132033.
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. Bibcode:2002PNAS...9916899M. 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.

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. S2CID 6423295.

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

[1]

[2]

[3]

[4]

[5]

[6]

References

Further reading