RP9

Retinitis pigmentosa 9 (autosomal dominant)
Identifiers
Symbols RP9 ; PAP-1; PAP1
External IDs OMIM: 607331 MGI: 2157166 HomoloGene: 10290 GeneCards: RP9 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
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 Mb
Chr 9:
22.45 – 22.47 Mb
PubMed search

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

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.[2]

Clinical significance

Mutations in PAP1 underlie autosomal dominant retinitis pigmentosa mapped to the RP9 gene locus.[3]

Interactions

RP9 has been shown to interact with U2 small nuclear RNA auxiliary factor 1.[2]

References

  1. "Entrez Gene: RP9 retinitis pigmentosa 9 (autosomal dominant)".
  2. 1 2 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.
  3. 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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