POP1 (gene): Difference between revisions

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Ribonucleases P/MRP protein subunit POP1 is a protein that in humans is encoded by the POP1 gene.[1][2]

Function

POP1 is a protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. This protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing.[3]

Clinical significance

POP1 is also an autoantigen in patients suffering from connective tissue diseases. Mutations in the POP1 gene result in severe anauxetic dysplasia.[4]

Interactions

POP1 (gene) has been shown to interact with POP4.[5]

References

  1. Pluk H, van Eenennaam H, Rutjes SA, Pruijn GJ, van Venrooij WJ (Apr 1999). "RNA-protein interactions in the human RNase MRP ribonucleoprotein complex". RNA. 5 (4): 512–24. doi:10.1017/S1355838299982079. PMC 1369778. PMID 10199568.
  2. Lygerou Z, Pluk H, van Venrooij WJ, Seraphin B (Jan 1997). "hPop1: an autoantigenic protein subunit shared by the human RNase P and RNase MRP ribonucleoproteins". EMBO J. 15 (21): 5936–48. PMC 452370. PMID 8918471.
  3. "Entrez Gene: POP1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)".
  4. Glazov, EA; Zankl, A; Donskoi, M; Kenna, TJ; Thomas, GP; Clark, GR; Duncan, EL; Brown, MA (Mar 2011). "Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia". PLOS Genetics. 7 (3): e1002027. doi:10.1371/journal.pgen.1002027. PMC 3063761. PMID 21455487.
  5. Welting, Tim J M; van Venrooij Walther J; Pruijn Ger J M (2004). "Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex". Nucleic Acids Res. England. 32 (7): 2138–46. doi:10.1093/nar/gkh539. PMC 407822. PMID 15096576.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.