The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

Links

 

Gene Review

RP9  -  retinitis pigmentosa 9 (autosomal dominant)

Homo sapiens

Synonyms: PAP-1, PAP1, Pim-1-associated protein, Retinitis pigmentosa 9 protein
 
 
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.
 

Disease relevance of RP9

 

High impact information on RP9

  • Although Kv1.3 inhibitors [ShK(L5)-amide (SL5) and PAP1] do not prevent immunological synapse formation, they suppress Ca(2+)-signaling, cytokine production, and proliferation of autoantigen-specific T(EM) cells at pharmacologically relevant concentrations while sparing other classes of T cells [6].
  • This "bimodal expressivity" contrasts with the variable-expressivity RP mapping to chromosome 7p (RP9) in another family, which has implications for diagnosis and counseling of RP11 families [7].
  • Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9) [8].
  • Furthermore, phosphatidic acid phosphohydrolase activity assays showed that the bromoenol lactone-sensitive PAP-1 activity was translocated from the cytosolic fraction to the membrane fraction within 2 min of LPS exposure [9].
  • We show that the LPS-induced up-regulation of COX-2 depends on the activity of the Mg(+2)-dependent phosphatidic acid phosphohydrolase 1 (PAP-1) [9].
 

Chemical compound and disease context of RP9

  • PAP-1 has recently been implicated as the defective gene in RP9, one type of autosomal dominant retinitis pigmentosa (adRP) [2].
 

Biological context of RP9

  • The RP9 form of autosomal dominant retinitis pigmentosa (adRP) maps to a locus on human chromosome 7p14 [10].
  • Although PAP-1 binds to Pim-1, it is not a substrate for phosphorylation by Pim-1 in vivo [2].
  • In this study, CIR, a protein originally identified as a CBF1-interacting protein and reported to act as a transcriptional corepressor, was identified as a PAP-1 binding protein and its function as a splicing factor was investigated [11].
  • CIR, a corepressor of CBF1, binds to PAP-1 and effects alternative splicing [11].
  • In examining the mechanism of cell killing by this virus, we found that Ty/Ont induced fragmentation of the RP9 cellular DNA into a 200-bp ladder and caused ultrastructural changes characteristic of apoptotic cell death by 5 h after infection [4].
 

Anatomical context of RP9

 

Associations of RP9 with chemical compounds

  • We used the same splicing assay to examine the activities of two mutant forms of PAP-1 found in RP9 patients [2].
  • (1)H, (13)C, and (15)N resonance assignments and secondary structure of human pancreatitis-associated protein (hPAP) [14].
 

Other interactions of RP9

References

  1. Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex. Maita, H., Kitaura, H., Ariga, H., Iguchi-Ariga, S.M. Exp. Cell Res. (2005) [Pubmed]
  2. PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor. Maita, H., Kitaura, H., Keen, T.J., Inglehearn, C.F., Ariga, H., Iguchi-Ariga, S.M. Exp. Cell Res. (2004) [Pubmed]
  3. Expression of c-myc RNA in bursal lymphoma cell lines: identification of c-myc-encoded proteins by hybrid-selected translation. Pachl, C., Schubach, W., Eisenman, R., Linial, M. Cell (1983) [Pubmed]
  4. Apoptosis: a mechanism of cell killing by influenza A and B viruses. Hinshaw, V.S., Olsen, C.W., Dybdahl-Sissoko, N., Evans, D. J. Virol. (1994) [Pubmed]
  5. Induction of apoptosis in vitro by the 17-kDa nonstructural protein of infectious bursal disease virus: possible role in viral pathogenesis. Yao, K., Vakharia, V.N. Virology (2001) [Pubmed]
  6. Kv1.3 channels are a therapeutic target for T cell-mediated autoimmune diseases. Beeton, C., Wulff, H., Standifer, N.E., Azam, P., Mullen, K.M., Pennington, M.W., Kolski-Andreaco, A., Wei, E., Grino, A., Counts, D.R., Wang, P.H., Leehealey, C.J., S Andrews, B., Sankaranarayanan, A., Homerick, D., Roeck, W.W., Tehranzadeh, J., Stanhope, K.L., Zimin, P., Havel, P.J., Griffey, S., Knaus, H.G., Nepom, G.T., Gutman, G.A., Calabresi, P.A., Chandy, K.G. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  7. Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. Al-Maghtheh, M., Vithana, E., Tarttelin, E., Jay, M., Evans, K., Moore, T., Bhattacharya, S., Inglehearn, C.F. Am. J. Hum. Genet. (1996) [Pubmed]
  8. Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9). Inglehearn, C.F., Keen, T.J., al-Maghtheh, M., Gregory, C.Y., Jay, M.R., Moore, A.T., Bird, A.C., Bhattacharya, S.S. Am. J. Hum. Genet. (1994) [Pubmed]
  9. Lipopolysaccharide-induced Cyclooxygenase-2 Expression in Human U937 Macrophages Is Phosphatidic Acid Phosphohydrolase-1-dependent. Grkovich, A., Johnson, C.A., Buczynski, M.W., Dennis, E.A. J. Biol. Chem. (2006) [Pubmed]
  10. Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Keen, T.J., Hims, M.M., McKie, A.B., Moore, A.T., Doran, R.M., Mackey, D.A., Mansfield, D.C., Mueller, R.F., Bhattacharya, S.S., Bird, A.C., Markham, A.F., Inglehearn, C.F. Eur. J. Hum. Genet. (2002) [Pubmed]
  11. CIR, a corepressor of CBF1, binds to PAP-1 and effects alternative splicing. Maita, H., Kitaura, H., Ariga, H., Iguchi-Ariga, S.M. Exp. Cell Res. (2005) [Pubmed]
  12. PAP-1, a novel target protein of phosphorylation by pim-1 kinase. Maita, H., Harada, Y., Nagakubo, D., Kitaura, H., Ikeda, M., Tamai, K., Takahashi, K., Ariga, H., Iguchi-Ariga, S.M. Eur. J. Biochem. (2000) [Pubmed]
  13. Signal for induction of aldose reductase in renal medullary cells by high external NaCl. Uchida, S., Garcia-Perez, A., Murphy, H., Burg, M. Am. J. Physiol. (1989) [Pubmed]
  14. (1)H, (13)C, and (15)N resonance assignments and secondary structure of human pancreatitis-associated protein (hPAP). Ho, M.R., Lou, Y.C., Lin, W.C., Lyu, P.C., Chen, C. J. Biomol. NMR (2004) [Pubmed]
  15. Exclusion of CAG repeat expansion as the cause of disease in autosomal dominant retinitis pigmentosa families. Keen, T.J., Morris, A.G., Inglehearn, C.F. J. Med. Genet. (1997) [Pubmed]
 
WikiGenes - Universities