Retinitis Pigmentosa 9, Autosomal Dominant (RP9)

RP9 can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene , which is located in tandem array approximately 166 kb distal to this gene.This gene was found to be mutated in autosomal dominant retinitis pigmentosa-9 and was termed RP9. The predicted peptide sequence of the mouse ortholog showed 93% identity to the human protein. An expression profile based on EST sequence representation suggested that the human gene is transcribed in most tissues.