RP9

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]

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

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. GRCh38: Ensembl release 89: ENSG00000164610 - Ensembl, May 2017
  2. 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. 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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