RP9

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RP9
Identifiers
Aliases RP9, PAP-1, PAP1, retinitis pigmentosa 9 (autosomal dominant)
External IDs MGI: 2157166 HomoloGene: 10290 GeneCards: RP9
RNA expression pattern
PBB GE RP9 gnf1h07168 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_203288

NM_018739

RefSeq (protein)

NP_976033

NP_061209.1
NP_061209

Location (UCSC) Chr 7: 33.09 – 33.11 Mb Chr 9: 22.41 – 22.47 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Retinitis pigmentosa 9 (autosomal dominant), also known as RP9 or PAP-1, is a protein which in humans is encoded by the RP9 gene.[3]

Function[edit]

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 SC35 and interacts directly with another splicing factor, U2AF35.[4]

Clinical significance[edit]

Mutations in PAP1 underlie autosomal dominant retinitis pigmentosa mapped to the RP9 gene locus.[5]

Interactions[edit]

RP9 has been shown to interact with U2 small nuclear RNA auxiliary factor 1.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ "Entrez Gene: RP9 retinitis pigmentosa 9 (autosomal dominant)". 
  4. ^ a b Maita H, Kitaura H, Keen TJ, Inglehearn CF, Ariga H, Iguchi-Ariga SM (November 2004). "PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor". Exp. Cell Res. 300 (2): 283–96. doi:10.1016/j.yexcr.2004.07.029. PMID 15474994. 
  5. ^ Keen TJ, Hims MM, McKie AB, Moore AT, Doran RM, Mackey DA, Mansfield DC, Mueller RF, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF (April 2002). "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. doi:10.1038/sj.ejhg.5200797. PMID 12032732. 

Further reading[edit]