RP9


Description

The RP9 (RP9 pre-mRNA splicing factor) is a protein-coding gene located on chromosome 7.

Retinitis pigmentosa 9 (autosomal dominant), also known as RP9 or PAP-1, is a protein encoded by the RP9 gene. It functions in the spliceosome, a complex responsible for removing introns from pre-mRNA. The exact role of PAP-1 in splicing is unclear, but it is believed to localize in nuclear speckles containing the splicing factor SRSF2 and interact with another splicing factor, U2AF35. Mutations in PAP1 are linked to autosomal dominant retinitis pigmentosa, mapped to the RP9 gene locus. RP9 has been shown to interact with U2 small nuclear RNA auxiliary factor 1.

RP9 is believed to be a target protein for the PIM1 kinase. It might contribute to B-cell proliferation in conjunction with PIM1.

RP9 is also known as PAP-1, PAP1.

Associated Diseases


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