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Gene Review

RP1  -  retinitis pigmentosa 1 (autosomal dominant)

Homo sapiens

Synonyms: DCDC4A, ORP1, Oxygen-regulated protein 1, Retinitis pigmentosa 1 protein, Retinitis pigmentosa RP1 protein
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Disease relevance of RP1


Psychiatry related information on RP1


High impact information on RP1


Chemical compound and disease context of RP1


Biological context of RP1

  • They emphasise that caution is required in genetic counselling of RP families, particularly in the absence of any molecular genetic analysis [20].
  • Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci [20].
  • Microsatellite analysis of Family 1 revealed that the RP in the family was linked to the RP3 locus [2].
  • Due to the complexity in phenotype and genetics, and the fact that RP is untreatable, genetic testing for presymptomatic diagnosis of RP is controversial [3].
  • A large number of mutations cause RP, and they can be deletions, insertions, or substitutions that cause missense mutations or truncations [3].

Anatomical context of RP1

  • Retinitis pigmentosa (RP) is a heterogeneous group of retinal dystrophies characterized by photoreceptor cell degeneration [21].
  • Data obtained with highly conserved yeast homologues suggest that the EB1/RP1 protein family promotes cytoplasmic microtubule dynamics and contributes to the sensor mechanism controlling the cytokinesis checkpoint during mitosis [22].
  • Based on linkage data from the CEPH (Paris) reference families and physical mapping information from a somatic cell hybrid panel of chromosome 8 fragments, the most likely order for four of these five loci and the diseases locus is 8pter-LPL-D8S5-D8S87-PLAT-RP1 [4].
  • Consistent with expression of RPGR in rods and cones, our results show that mutations in RPGR, in addition to X-linked RP, can also cause cone-specific degeneration [23].
  • Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated "RP12" and is characterized by a preserved para-arteriolar retinal pigment epithelium (PPRPE) and by severe loss of vision at age <20 years [24].

Associations of RP1 with chemical compounds

  • The allelic frequency of intron 3 RP1 was significant different in the patients with discoid rash when compared to patients without this clinical feature (OR = 3.70, 95% CI 2.04-6.72, chi2 test, P = 0.029) [25].
  • Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1 [26].
  • Notably, mutations that alter this arginine codon cause familial retinitis pigmentosa [27].
  • Here we report an association between a missense coding region polymorphism Asn985Tyr in the retinitis pigmentosa 1 gene ( RP1) and plasma triglyceride (TG) levels in 332 adult individuals from an east-central area of Japan. Age and gender-adjusted levels of LDL-cholesterol, TG, and HDL-cholesterol were analyzed [28].
  • A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family [29]?

Physical interactions of RP1

  • RPGRIP1 encodes the retinitis pigmentosa GTPase interacting protein 1 and interacts with RPGR, the latter represents the major X-linked RP (XRRP) gene, as it accounts for 70-80% of the XRRP patients and up to 13% of all RP patients [30].
  • The protein carries 11-cis-retinal and/or 11-cis-retinol as endogenous ligands in the RPE and retina and mutations in human CRALBP that destroy retinoid binding functionality have been linked to autosomal recessive retinitis pigmentosa [31].
  • Eleven single-point mutations associated with retinitis pigmentosa at and in the proximity to the retinal binding pocket of rhodopsin have been modeled in silico and their spectra calculated with the NDOL (Neglect of Differential Overlap accounting L azimuthal quantum number) a priori method [32].

Regulatory relationships of RP1


Other interactions of RP1

  • The COD1 locus originally was localized, by the study of three independent families, to a region between Xp11.3 and Xp21.1, encompassing the retinitis pigmentosa (RP) 3 locus [35].
  • The distinct RPE abnormalities observed in RP12 patients suggest that CRB1 mutations trigger a novel mechanism of photoreceptor degeneration [36].
  • A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27 [37].
  • The resultant LCA array allows simultaneous detection of all known disease-associated alleles in any patient with early-onset RP [38].
  • Multipoint linkage analysis, using a simplified pedigree structure for the family (which contains 192 individuals and two inbreeding loops), gave a maximum lod score of 12.2 for RP1 at a distance 8.1 cM proximal to PLAT in the pericentric region of the chromosome [4].

Analytical, diagnostic and therapeutic context of RP1


  1. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Sullivan, L.S., Heckenlively, J.R., Bowne, S.J., Zuo, J., Hide, W.A., Gal, A., Denton, M., Inglehearn, C.F., Blanton, S.H., Daiger, S.P. Nat. Genet. (1999) [Pubmed]
  2. Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa. Yokoyama, A., Maruiwa, F., Hayakawa, M., Kanai, A., Vervoort, R., Wright, A.F., Yamada, K., Niikawa, N., Naōi, N. Am. J. Med. Genet. (2001) [Pubmed]
  3. Gene mutations in retinitis pigmentosa and their clinical implications. Wang, D.Y., Chan, W.M., Tam, P.O., Baum, L., Lam, D.S., Chong, K.K., Fan, B.J., Pang, C.P. Clin. Chim. Acta (2005) [Pubmed]
  4. Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8. Blanton, S.H., Heckenlively, J.R., Cottingham, A.W., Friedman, J., Sadler, L.A., Wagner, M., Friedman, L.H., Daiger, S.P. Genomics (1991) [Pubmed]
  5. Phenotype-genotype correlations in X linked retinitis pigmentosa. Kaplan, J., Pelet, A., Martin, C., Delrieu, O., Aymé, S., Bonneau, D., Briard, M.L., Hanauer, A., Larget-Piet, L., Lefrançois, P. J. Med. Genet. (1992) [Pubmed]
  6. A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindred. Zhang, L., Wang, T., Wright, A.F., Suri, M., Schwartz, C.E., Stevenson, R.E., Valle, D. Am. J. Med. Genet. A (2006) [Pubmed]
  7. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Mollet, G., Salomon, R., Gribouval, O., Silbermann, F., Bacq, D., Landthaler, G., Milford, D., Nayir, A., Rizzoni, G., Antignac, C., Saunier, S. Nat. Genet. (2002) [Pubmed]
  8. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Holt, I.J., Harding, A.E., Petty, R.K., Morgan-Hughes, J.A. Am. J. Hum. Genet. (1990) [Pubmed]
  9. Can blood immunocytes be used to study neuropsychiatric disorders? Singh, V.K., Fudenberg, H.H. The Journal of clinical psychiatry. (1986) [Pubmed]
  10. A self-assessment instrument designed for measuring independent mobility in RP patients: generalizability to glaucoma patients. Turano, K.A., Massof, R.W., Quigley, H.A. Invest. Ophthalmol. Vis. Sci. (2002) [Pubmed]
  11. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Otto, E.A., Loeys, B., Khanna, H., Hellemans, J., Sudbrak, R., Fan, S., Muerb, U., O'Toole, J.F., Helou, J., Attanasio, M., Utsch, B., Sayer, J.A., Lillo, C., Jimeno, D., Coucke, P., De Paepe, A., Reinhardt, R., Klages, S., Tsuda, M., Kawakami, I., Kusakabe, T., Omran, H., Imm, A., Tippens, M., Raymond, P.A., Hill, J., Beales, P., He, S., Kispert, A., Margolis, B., Williams, D.S., Swaroop, A., Hildebrandt, F. Nat. Genet. (2005) [Pubmed]
  12. Identification and characterization of rod-derived cone viability factor. Léveillard, T., Mohand-Saïd, S., Lorentz, O., Hicks, D., Fintz, A.C., Clérin, E., Simonutti, M., Forster, V., Cavusoglu, N., Chalmel, F., Dollé, P., Poch, O., Lambrou, G., Sahel, J.A. Nat. Genet. (2004) [Pubmed]
  13. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Manfredi, G., Fu, J., Ojaimi, J., Sadlock, J.E., Kwong, J.Q., Guy, J., Schon, E.A. Nat. Genet. (2002) [Pubmed]
  14. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Bolz, H., von Brederlow, B., Ramírez, A., Bryda, E.C., Kutsche, K., Nothwang, H.G., Seeliger, M., del C-Salcedó Cabrera, M., Vila, M.C., Molina, O.P., Gal, A., Kubisch, C. Nat. Genet. (2001) [Pubmed]
  15. An increased incidence of apolipoprotein E2/E2 and E4/E4 in retinitis pigmentosa. Huq, L., McLachlan, T., Hammer, H.M., Bedford, D., Packard, C.J., Shepherd, J., Converse, C.A. Lipids (1993) [Pubmed]
  16. Mutations in MKKS cause Bardet-Biedl syndrome. Slavotinek, A.M., Stone, E.M., Mykytyn, K., Heckenlively, J.R., Green, J.S., Heon, E., Musarella, M.A., Parfrey, P.S., Sheffield, V.C., Biesecker, L.G. Nat. Genet. (2000) [Pubmed]
  17. Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin. Macke, J.P., Davenport, C.M., Jacobson, S.G., Hennessey, J.C., Gonzalez-Fernandez, F., Conway, B.P., Heckenlively, J., Palmer, R., Maumenee, I.H., Sieving, P. Am. J. Hum. Genet. (1993) [Pubmed]
  18. Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Kunkel, L.M., Monaco, A.P., Middlesworth, W., Ochs, H.D., Latt, S.A. Proc. Natl. Acad. Sci. U.S.A. (1985) [Pubmed]
  19. Ataxia with isolated vitamin E deficiency and retinitis pigmentosa. Shimohata, T., Date, H., Ishiguro, H., Suzuki, T., Takano, H., Tanaka, H., Tsuji, S., Hirota, K. Ann. Neurol. (1998) [Pubmed]
  20. Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci. Aldred, M.A., Teague, P.W., Jay, M., Bundey, S., Redmond, R.M., Jay, B., Bird, A.C., Bhattacharya, S.S., Wright, A.F. J. Med. Genet. (1994) [Pubmed]
  21. Update on the molecular genetics of retinitis pigmentosa. Wang, Q., Chen, Q., Zhao, K., Wang, L., Wang, L., Traboulsi, E.I. Ophthalmic Genet. (2001) [Pubmed]
  22. Chromosomal localization and promoter analysis of the adenomatous polyposis coli binding protein RP1. Wadle, A., Thiel, G., Mischo, A., Jung, V., Pfreundschuh, M., Renner, C. Oncogene (2001) [Pubmed]
  23. Mutations in the RPGR gene cause X-linked cone dystrophy. Yang, Z., Peachey, N.S., Moshfeghi, D.M., Thirumalaichary, S., Chorich, L., Shugart, Y.Y., Fan, K., Zhang, K. Hum. Mol. Genet. (2002) [Pubmed]
  24. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. den Hollander, A.I., Heckenlively, J.R., van den Born, L.I., de Kok, Y.J., van der Velde-Visser, S.D., Kellner, U., Jurklies, B., van Schooneveld, M.J., Blankenagel, A., Rohrschneider, K., Wissinger, B., Cruysberg, J.R., Deutman, A.F., Brunner, H.G., Apfelstedt-Sylla, E., Hoyng, C.B., Cremers, F.P. Am. J. Hum. Genet. (2001) [Pubmed]
  25. Polymorphisms of the interleukin-4 gene in chinese patients with systemic lupus erythematosus in Taiwan. Wu, M.C., Huang, C.M., Tsai, J.J., Chen, H.Y., Tsai, F.J. Lupus (2003) [Pubmed]
  26. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Roepman, R., van Duijnhoven, G., Rosenberg, T., Pinckers, A.J., Bleeker-Wagemakers, L.M., Bergen, A.A., Post, J., Beck, A., Reinhardt, R., Ropers, H.H., Cremers, F.P., Berger, W. Hum. Mol. Genet. (1996) [Pubmed]
  27. Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. Bartolini, F., Bhamidipati, A., Thomas, S., Schwahn, U., Lewis, S.A., Cowan, N.J. J. Biol. Chem. (2002) [Pubmed]
  28. Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene. Fujita, Y., Ezura, Y., Emi, M., Ono, S., Takada, D., Takahashi, K., Uemura, K., Iino, Y., Katayama, Y., Bujo, H., Saito, Y. J. Hum. Genet. (2003) [Pubmed]
  29. A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family? Reig, C., Martinez-Gimeno, M., Carballo, M. Hum. Mutat. (2000) [Pubmed]
  30. RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review. Koenekoop, R.K. Ophthalmic Genet. (2005) [Pubmed]
  31. Structural and functional characterization of recombinant human cellular retinaldehyde-binding protein. Crabb, J.W., Carlson, A., Chen, Y., Goldflam, S., Intres, R., West, K.A., Hulmes, J.D., Kapron, J.T., Luck, L.A., Horwitz, J., Bok, D. Protein Sci. (1998) [Pubmed]
  32. Patterns of retinal light absorption related to retinitis pigmentosa mutants from in silico model structures of rhodopsin. Padrón-García, J.A., Crespo-Otero, R., Hernández-Rodríguez, E.W., Garriga, P., Montero, L.A., García-Piñeiro, J.C. Proteins (2004) [Pubmed]
  33. Cellular immune status in retinitis pigmentosa. Newsome, D.A., Quinn, T.C., Hess, A.D., Pitha-Rowe, P.M. Ophthalmology (1988) [Pubmed]
  34. Ligand-independent hormone secretion. Laue, L. Curr. Opin. Pediatr. (1995) [Pubmed]
  35. Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3. Seymour, A.B., Dash-Modi, A., O'Connell, J.R., Shaffer-Gordon, M., Mah, T.S., Stefko, S.T., Nagaraja, R., Brown, J., Kimura, A.E., Ferrell, R.E., Gorin, M.B. Am. J. Hum. Genet. (1998) [Pubmed]
  36. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). den Hollander, A.I., ten Brink, J.B., de Kok, Y.J., van Soest, S., van den Born, L.I., van Driel, M.A., van de Pol, D.J., Payne, A.M., Bhattacharya, S.S., Kellner, U., Hoyng, C.B., Westerveld, A., Brunner, H.G., Bleeker-Wagemakers, E.M., Deutman, A.F., Heckenlively, J.R., Cremers, F.P., Bergen, A.A. Nat. Genet. (1999) [Pubmed]
  37. A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. Gieser, L., Fujita, R., Göring, H.H., Ott, J., Hoffman, D.R., Cideciyan, A.V., Birch, D.G., Jacobson, S.G., Swaroop, A. Am. J. Hum. Genet. (1998) [Pubmed]
  38. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Zernant, J., Külm, M., Dharmaraj, S., den Hollander, A.I., Perrault, I., Preising, M.N., Lorenz, B., Kaplan, J., Cremers, F.P., Maumenee, I., Koenekoop, R.K., Allikmets, R. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  39. Prenatal diagnosis of X-linked retinitis pigmentosa (RP) in five pregnancies at risk. Iampieri, M.P., Mingarelli, R., Le Guern, E., Novelli, G., Dallapiccola, B. Prenat. Diagn. (1994) [Pubmed]
  40. A retrospective study of registered retinitis pigmentosa patients in The Netherlands. van den Born, L.I., Bergen, A.A., Bleeker-Wagemakers, E.M. Ophthalmic paediatrics and genetics. (1992) [Pubmed]
  41. X-linked retinitis pigmentosa: functional phenotype of an RP2 genotype. Jacobson, S.G., Roman, A.J., Cideciyan, A.V., Robey, M.G., Iwata, T., Inana, G. Invest. Ophthalmol. Vis. Sci. (1992) [Pubmed]
  42. Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis. Musarella, M.A., Anson-Cartwright, C.L., McDowell, C., Burghes, A.H., Coulson, S.E., Worton, R.G., Rommens, J.M. Genomics (1991) [Pubmed]
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