POP1 (gene) explained

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]

Further reading

• Nomura N, Nagase T, Miyajima N, etal . Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. . DNA Res. . 1 . 5 . 223–9 . 1995 . 7584044 . 10.1093/dnares/1.5.223 . free .
• Schmiedeknecht G, Büchler C, Schmitz G . A bidirectional promoter connects the p14.5 gene to the gene for RNase P and RNase MRP protein subunit hPOP1. . Biochem. Biophys. Res. Commun. . 241 . 1 . 59–67 . 1998 . 9405234 . 10.1006/bbrc.1997.7772 .
• Dundr M, Olson MO . Partially processed pre-rRNA is preserved in association with processing components in nucleolus-derived foci during mitosis. . Mol. Biol. Cell . 9 . 9 . 2407–22 . 1999 . 9725903 . 10.1091/mbc.9.9.2407. 25507 .
• Jiang T, Guerrier-Takada C, Altman S . Protein-RNA interactions in the subunits of human nuclear RNase P. . RNA . 7 . 7 . 937–41 . 2001 . 11455963 . 10.1017/S1355838201010299 . 1370153 .
• van Eenennaam H, van der Heijden A, Janssen RJ, etal . Basic domains target protein subunits of the RNase MRP complex to the nucleolus independently of complex association. . Mol. Biol. Cell . 12 . 11 . 3680–9 . 2002 . 11694598 . 10.1091/mbc.12.11.3680. 60285 .
• Andersen JS, Lyon CE, Fox AH, etal . Directed proteomic analysis of the human nucleolus. . Curr. Biol. . 12 . 1 . 1–11 . 2002 . 11790298 . 10.1016/S0960-9822(01)00650-9 . 14132033 . free . 2002CBio...12....1A .
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Welting TJ, van Venrooij WJ, Pruijn GJ . Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex. . Nucleic Acids Res. . 32 . 7 . 2138–46 . 2004 . 15096576 . 10.1093/nar/gkh539 . 407822 .
• Beausoleil SA, Jedrychowski M, Schwartz D, etal . Large-scale characterization of HeLa cell nuclear phosphoproteins. . Proc. Natl. Acad. Sci. U.S.A. . 101 . 33 . 12130–5 . 2004 . 15302935 . 10.1073/pnas.0404720101 . 514446 . 2004PNAS..10112130B . free .
• Andersen JS, Lam YW, Leung AK, etal . Nucleolar proteome dynamics. . Nature . 433 . 7021 . 77–83 . 2005 . 15635413 . 10.1038/nature03207 . 2005Natur.433...77A . 4344740 .
• Rual JF, Venkatesan K, Hao T, etal . Towards a proteome-scale map of the human protein-protein interaction network. . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
• Welting TJ, Kikkert BJ, van Venrooij WJ, Pruijn GJ . Differential association of protein subunits with the human RNase MRP and RNase P complexes. . RNA . 12 . 7 . 1373–82 . 2006 . 16723659 . 10.1261/rna.2293906 . 1484433 .

Notes and References

1. Pluk H, van Eenennaam H, Rutjes SA, Pruijn GJ, van Venrooij WJ . RNA-protein interactions in the human RNase MRP ribonucleoprotein complex . RNA . 5 . 4 . 512–24 . Apr 1999 . 10199568 . 1369778 . 10.1017/S1355838299982079 .
2. Lygerou Z, Pluk H, van Venrooij WJ, Seraphin B . hPop1: an autoantigenic protein subunit shared by the human RNase P and RNase MRP ribonucleoproteins . EMBO J . 15 . 21 . 5936–48 . Jan 1997 . 8918471 . 452370 . 10.1002/j.1460-2075.1996.tb00980.x.
3. Web site: 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 . Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia.. PLOS Genetics. Mar 2011. 7. 3. e1002027. 21455487. 10.1371/journal.pgen.1002027. 3063761 . free .
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. . 32 . 7 . 2138–46 . England. 15096576 . 10.1093/nar/gkh539 . 407822 .