View source for RP9

{{Short description|Protein-coding gene in humans}}
{{Infobox_gene}}
'''Retinitis pigmentosa 9 (autosomal dominant)''', also known as '''RP9''' or '''PAP-1''', is a [[protein]] which in humans is encoded by the ''RP9'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: RP9 retinitis pigmentosa 9 (autosomal dominant)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6100}}</ref>
== Function ==
The removal of [[intron]]s from nuclear pre-[[mRNA]]s 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]] <!-- alias SC35 --> and interacts directly with another splicing factor, [[U2 small nuclear RNA auxiliary factor 1|U2AF35]].<ref name="pmid15474994">{{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 }}</ref>
== Clinical significance ==
Mutations in PAP1 underlie [[autosomal dominant]] [[retinitis pigmentosa]] mapped to the RP9 gene [[locus (genetics)|locus]].<ref name="pmid12032732">{{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 }}</ref>
==Interactions==
RP9 has been shown to [[Protein-protein interaction|interact]] with [[U2 small nuclear RNA auxiliary factor 1]].<ref name=pmid15474994 />
==References==
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==Further reading==
{{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 }}
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