RP9

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.{{cite journal | vauthors = Maita H, Kitaura H, Keen TJ, Inglehearn CF, Ariga H, Iguchi-Ariga SM | title = PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor | journal = Exp. Cell Res. | volume = 300 | issue = 2 | pages = 283–96 |date=November 2004 | pmid = 15474994 | doi = 10.1016/j.yexcr.2004.07.029 }}

Mutations in PAP1 underlie autosomal dominant retinitis pigmentosa mapped to the RP9 gene locus.{{cite journal | vauthors = Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF | title = Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa | journal = Eur. J. Hum. Genet. | volume = 10 | issue = 4 | pages = 245–9 |date=April 2002 | pmid = 12032732 | doi = 10.1038/sj.ejhg.5200797 | doi-access = free }}

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

{{reflist}}

{{refbegin | 2}}

• {{cite journal | vauthors=Inglehearn C, Keen TJ, al-Maghtheh M, Bhattacharya S |title=Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic. |journal=Am. J. Hum. Genet. |volume=55 |issue= 3 |pages= 581–2 |year= 1994 |pmid= 8079997 | pmc=1918416 }}
• {{cite journal |vauthors=Inglehearn CF, Carter SA, Keen TJ, etal |title=A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. |journal=Nat. Genet. |volume=4 |issue= 1 |pages= 51–3 |year= 1993 |pmid= 8513323 |doi= 10.1038/ng0593-51 |s2cid=33087284 }}
• {{cite journal |vauthors=Maita H, Harada Y, Nagakubo D, etal |title=PAP-1, a novel target protein of phosphorylation by pim-1 kinase. |journal=Eur. J. Biochem. |volume=267 |issue= 16 |pages= 5168–78 |year= 2000 |pmid= 10931201 |doi=10.1046/j.1432-1327.2000.01585.x |doi-access=free }}
• {{cite journal |vauthors=Keen TJ, Hims MM, McKie AB, etal |title=Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. |journal=Eur. J. Hum. Genet. |volume=10 |issue= 4 |pages= 245–9 |year= 2002 |pmid= 12032732 |doi= 10.1038/sj.ejhg.5200797 |doi-access= free }}
• {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
• {{cite journal |vauthors=Scherer SW, Cheung J, MacDonald JR, etal |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767–72 |year= 2003 |pmid= 12690205 | pmc=2882961 |doi= 10.1126/science.1083423 |bibcode=2003Sci...300..767S }}
• {{cite journal |vauthors=Maita H, Kitaura H, Keen TJ, etal |title=PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. |journal=Exp. Cell Res. |volume=300 |issue= 2 |pages= 283–96 |year= 2004 |pmid= 15474994 |doi= 10.1016/j.yexcr.2004.07.029 }}
• {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
• {{cite journal | vauthors=Maita H, Kitaura H, Ariga H, Iguchi-Ariga SM |title=Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex. |journal=Exp. Cell Res. |volume=302 |issue= 1 |pages= 61–8 |year= 2005 |pmid= 15541726 |doi= 10.1016/j.yexcr.2004.08.022 }}
• {{cite journal |vauthors=Kuroda TS, Maita H, Tabata T, etal |title=A novel nucleolar protein, PAPA-1, induces growth arrest as a result of cell cycle arrest at the G1 phase. |journal=Gene |volume=340 |issue= 1 |pages= 83–98 |year= 2004 |pmid= 15556297 |doi= 10.1016/j.gene.2004.05.025 }}
• {{cite journal | vauthors=Maita H, Kitaura H, Ariga H, Iguchi-Ariga SM |title=CIR, a corepressor of CBF1, binds to PAP-1 and effects alternative splicing. |journal=Exp. Cell Res. |volume=303 |issue= 2 |pages= 375–87 |year= 2005 |pmid= 15652350 |doi= 10.1016/j.yexcr.2004.10.012 }}

{{refend}}

{{gene-7-stub}}