EMG1

Probable ribosome biogenesis protein NEP1 or EMG1 is a protein that in humans is encoded by the EMG1 gene.[5][6][7] A D86G mutation in the protein has been associated with Bowen-Conradi syndrome.

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
Gene location (Human)
Chr.Chromosome 12 (human)[1]
Band12p13.31Start6,970,913 bp[1]
End6,997,428 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

10436

14791

Ensembl

ENSG00000126749

ENSMUSG00000004268

UniProt

Q92979

O35130

RefSeq (mRNA)

NM_006331
NM_001320049

NM_013536

RefSeq (protein)

NP_001306978
NP_006322

NP_038564

Location (UCSC)Chr 12: 6.97 – 7 MbChr 6: 124.7 – 124.71 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse


References

  1. GRCh38: Ensembl release 89: ENSG00000126749 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000004268 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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.
  7. "Entrez Gene: EMG1 EMG1 nucleolar protein homolog (S. cerevisiae)".

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.