Description: Homo sapiens retinitis pigmentosa 9 (autosomal dominant) (RP9), mRNA. RefSeq Summary (NM_203288): The protein encoded by this gene 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 (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]. Transcript (Including UTRs) Position: hg19 chr7:33,134,410-33,149,002 Size: 14,593 Total Exon Count: 6 Strand: - Coding Region Position: hg19 chr7:33,134,846-33,148,984 Size: 14,139 Coding Exon Count: 6
ID:RP9_HUMAN DESCRIPTION: RecName: Full=Retinitis pigmentosa 9 protein; AltName: Full=Pim-1-associated protein; Short=PAP-1; FUNCTION: Is thought to be a target protein for the PIM1 kinase. May play some roles in B-cell proliferation in association with PIM1 (By similarity). SUBUNIT: Binds to PIM1 (By similarity). Binds to ZNHIT4. SUBCELLULAR LOCATION: Nucleus (By similarity). TISSUE SPECIFICITY: Appears to be expressed in a wide range of tissues. DISEASE: Defects in RP9 are the cause of retinitis pigmentosa type 9 (RP9) [MIM:180104]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP9 inheritance is autosomal dominant. SIMILARITY: Contains 1 CCHC-type zinc finger.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8TA86
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
