POP1 (gene)

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An Error has occurred retrieving Wikidata item for infobox 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 with 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. doi:10.1002/j.1460-2075.1996.tb00980.x. 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 TJ, van Venrooij Walther J, Pruijn Ger J M (2004). "Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex". Nucleic Acids Res. 32 (7). England: 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.