RP9
Identifiers
AliasesRP9, PAP-1, PAP1, retinitis pigmentosa 9 (autosomal dominant), pre-mRNA splicing factor, RP9 pre-mRNA splicing factor
External IDsOMIM: 607331 MGI: 2157166 HomoloGene: 10290 GeneCards: RP9
Orthologs
SpeciesHumanMouse
Entrez

6100

55934

Ensembl

ENSG00000164610

ENSMUSG00000032239

UniProt

Q8TA86

P97762

RefSeq (mRNA)

NM_203288

NM_018739

RefSeq (protein)

NP_976033

NP_061209

Location (UCSC)Chr 7: 33.09 – 33.11 MbChr 9: 22.32 – 22.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[5]

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 SC35 and interacts directly with another splicing factor, U2AF35.[6]

Clinical significance

Mutations in PAP1 underlie autosomal dominant retinitis pigmentosa mapped to the RP9 gene locus.[7]

Interactions

RP9 has been shown to interact with U2 small nuclear RNA auxiliary factor 1.[6]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000164610 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032239 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: RP9 retinitis pigmentosa 9 (autosomal dominant)".
  6. ^ 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.
  7. ^ 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


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