RP9 explained

Retinitis pigmentosa 9 (autosomal dominant), also known as RP9 or PAP-1, is a protein which in humans is encoded by the RP9 gene.^[1]

Function

The removal of introns from nuclear pre-mRNAs occurs on a complex called a spliceosome, which is made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. The exact role of PAP-1 in splicing is not fully understood, but it is thought that PAP-1 localizes in nuclear speckles containing the splicing factor SRSF2 and interacts directly with another splicing factor, U2AF35.^[2]

Clinical significance

Mutations in PAP1 underlie autosomal dominant retinitis pigmentosa mapped to the RP9 gene locus.^[3]

Interactions

RP9 has been shown to interact with U2 small nuclear RNA auxiliary factor 1.

Further reading

• Inglehearn C, Keen TJ, al-Maghtheh M, Bhattacharya S . Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic. . Am. J. Hum. Genet. . 55 . 3 . 581–2 . 1994 . 8079997 . 1918416 .
• Inglehearn CF, Carter SA, Keen TJ, etal . A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. . Nat. Genet. . 4 . 1 . 51–3 . 1993 . 8513323 . 10.1038/ng0593-51 . 33087284 .
• Maita H, Harada Y, Nagakubo D, etal . PAP-1, a novel target protein of phosphorylation by pim-1 kinase. . Eur. J. Biochem. . 267 . 16 . 5168–78 . 2000 . 10931201 . 10.1046/j.1432-1327.2000.01585.x . free .
• Keen TJ, Hims MM, McKie AB, etal . Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. . Eur. J. Hum. Genet. . 10 . 4 . 245–9 . 2002 . 12032732 . 10.1038/sj.ejhg.5200797 . free .
• 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 .
• Scherer SW, Cheung J, MacDonald JR, etal . Human chromosome 7: DNA sequence and biology. . Science . 300 . 5620 . 767–72 . 2003 . 12690205 . 2882961 . 10.1126/science.1083423 . 2003Sci...300..767S .
• Maita H, Kitaura H, Keen TJ, etal . PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. . Exp. Cell Res. . 300 . 2 . 283–96 . 2004 . 15474994 . 10.1016/j.yexcr.2004.07.029 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Maita H, Kitaura H, Ariga H, Iguchi-Ariga SM . Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex. . Exp. Cell Res. . 302 . 1 . 61–8 . 2005 . 15541726 . 10.1016/j.yexcr.2004.08.022 .
• Kuroda TS, Maita H, Tabata T, etal . A novel nucleolar protein, PAPA-1, induces growth arrest as a result of cell cycle arrest at the G1 phase. . Gene . 340 . 1 . 83–98 . 2004 . 15556297 . 10.1016/j.gene.2004.05.025 .
• Maita H, Kitaura H, Ariga H, Iguchi-Ariga SM . CIR, a corepressor of CBF1, binds to PAP-1 and effects alternative splicing. . Exp. Cell Res. . 303 . 2 . 375–87 . 2005 . 15652350 . 10.1016/j.yexcr.2004.10.012 .

Notes and References

1. Web site: Entrez Gene: RP9 retinitis pigmentosa 9 (autosomal dominant).
2. Maita H, Kitaura H, Keen TJ, Inglehearn CF, Ariga H, Iguchi-Ariga SM . PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor . Exp. Cell Res. . 300 . 2 . 283–96 . November 2004 . 15474994 . 10.1016/j.yexcr.2004.07.029 .
3. Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF . Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa . Eur. J. Hum. Genet. . 10 . 4 . 245–9 . April 2002 . 12032732 . 10.1038/sj.ejhg.5200797 . free .