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EMG1

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EMG1
Available structures
PDBOrtholog search: PDBe RCSB
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

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  1. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004268Ensembl, 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

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