EMG1

Protein-coding gene in the species Homo sapiens

EMG1
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

5FAI

Identifiers
AliasesEMG1, C2F, Grcc2f, NEP1, N1-specific pseudouridine methyltransferase, EMG1 N1-specific pseudouridine methyltransferase
External IDsOMIM: 611531; MGI: 1315195; HomoloGene: 4617; GeneCards: EMG1; OMA:EMG1 - orthologs
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[1]
Chromosome 6 (mouse)
Genomic location for EMG1
Genomic location for EMG1
Band6 F2|6 59.17 cMStart124,681,048 bp[1]
End124,689,141 bp[1]
RNA expression pattern
Bgee
HumanMouse (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
SpeciesHumanMouse
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/aChr 6: 124.68 – 124.69 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/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. ^ a b c 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.


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