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Gene Review

NPHP1  -  nephronophthisis 1 (juvenile)

Homo sapiens

Synonyms: JBTS4, Juvenile nephronophthisis 1 protein, NPH1, Nephrocystin-1, SLSN1
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Disease relevance of NPHP1


Psychiatry related information on NPHP1


High impact information on NPHP1


Chemical compound and disease context of NPHP1


Biological context of NPHP1


Anatomical context of NPHP1


Associations of NPHP1 with chemical compounds


Other interactions of NPHP1


Analytical, diagnostic and therapeutic context of NPHP1


  1. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Otto, E.A., Schermer, B., Obara, T., O'Toole, J.F., Hiller, K.S., Mueller, A.M., Ruf, R.G., Hoefele, J., Beekmann, F., Landau, D., Foreman, J.W., Goodship, J.A., Strachan, T., Kispert, A., Wolf, M.T., Gagnadoux, M.F., Nivet, H., Antignac, C., Walz, G., Drummond, I.A., Benzing, T., Hildebrandt, F. Nat. Genet. (2003) [Pubmed]
  2. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Olbrich, H., Fliegauf, M., Hoefele, J., Kispert, A., Otto, E., Volz, A., Wolf, M.T., Sasmaz, G., Trauer, U., Reinhardt, R., Sudbrak, R., Antignac, C., Gretz, N., Walz, G., Schermer, B., Benzing, T., Hildebrandt, F., Omran, H. Nat. Genet. (2003) [Pubmed]
  3. Evidence for further genetic heterogeneity in nephronophthisis. Omran, H., Häffner, K., Burth, S., Ala-Mello, S., Antignac, C., Hildebrandt, F. Nephrol. Dial. Transplant. (2001) [Pubmed]
  4. Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. Betz, R., Rensing, C., Otto, E., Mincheva, A., Zehnder, D., Lichter, P., Hildebrandt, F. J. Pediatr. (2000) [Pubmed]
  5. 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]
  6. 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]
  7. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Hildebrandt, F., Otto, E., Rensing, C., Nothwang, H.G., Vollmer, M., Adolphs, J., Hanusch, H., Brandis, M. Nat. Genet. (1997) [Pubmed]
  8. A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. Antignac, C., Arduy, C.H., Beckmann, J.S., Benessy, F., Gros, F., Medhioub, M., Hildebrandt, F., Dufier, J.L., Kleinknecht, C., Broyer, M. Nat. Genet. (1993) [Pubmed]
  9. Nephronophthisis. Renal function and histologic studies in a family. Brouhard, B.H., Srivastava, R.N., Travis, L.B., Kay, M.I., Beathard, G.A., Dodge, W.F., Lorentz, W.B. Nephron (1977) [Pubmed]
  10. Senior-Loken syndrome with unusual manifestations. Singh, N.P., Anuradha, S., Gupta, S., Rizvi, S.N., Arora, R. The Journal of the Association of Physicians of India. (1998) [Pubmed]
  11. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Parisi, M.A., Bennett, C.L., Eckert, M.L., Dobyns, W.B., Gleeson, J.G., Shaw, D.W., McDonald, R., Eddy, A., Chance, P.F., Glass, I.A. Am. J. Hum. Genet. (2004) [Pubmed]
  12. Analysis of the NPHP genes in two Japanese patients with suspected sporadic juvenile or adolescent nephronophthisis. Komatsuda, A., Masai, R., Wakui, H., Iwamoto, K., Aiba, N., Ohtani, H., Satoh, K., Haseyama, T., Imai, H., Nakamoto, Y., Sawada, K. Clin. Nephrol. (2006) [Pubmed]
  13. Molecular genetics of nephronophthisis and medullary cystic kidney disease. Hildebrandt, F., Otto, E. J. Am. Soc. Nephrol. (2000) [Pubmed]
  14. Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2. Benzing, T., Gerke, P., Höpker, K., Hildebrandt, F., Kim, E., Walz, G. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  15. Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. Mollet, G., Silbermann, F., Delous, M., Salomon, R., Antignac, C., Saunier, S. Hum. Mol. Genet. (2005) [Pubmed]
  16. An optomechanical transducer in the blue light receptor phototropin from Avena sativa. Salomon, M., Eisenreich, W., Dürr, H., Schleicher, E., Knieb, E., Massey, V., Rüdiger, W., Müller, F., Bacher, A., Richter, G. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  17. Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie. Hildebrandt, F., Strahm, B., Nothwang, H.G., Gretz, N., Schnieders, B., Singh-Sawhney, I., Kutt, R., Vollmer, M., Brandis, M. Kidney Int. (1997) [Pubmed]
  18. Severe tubular resistance to aldosterone in a child with familial juvenile nephronophthisis. Eisenstein, B., Davidovitz, M., Garty, B.Z., Shmueli, D., Ussim, A., Stark, H. Pediatr. Nephrol. (1992) [Pubmed]
  19. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Otto, E., Hoefele, J., Ruf, R., Mueller, A.M., Hiller, K.S., Wolf, M.T., Schuermann, M.J., Becker, A., Birkenhäger, R., Sudbrak, R., Hennies, H.C., Nürnberg, P., Hildebrandt, F. Am. J. Hum. Genet. (2002) [Pubmed]
  20. The C. elegans homologs of nephrocystin-1 and nephrocystin-4 are cilia transition zone proteins involved in chemosensory perception. Winkelbauer, M.E., Schafer, J.C., Haycraft, C.J., Swoboda, P., Yoder, B.K. J. Cell. Sci. (2005) [Pubmed]
  21. Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. Saunier, S., Calado, J., Benessy, F., Silbermann, F., Heilig, R., Weissenbach, J., Antignac, C. Am. J. Hum. Genet. (2000) [Pubmed]
  22. Nephrocystin: gene expression and sequence conservation between human, mouse, and Caenorhabditis elegans. Otto, E., Kispert, A., Schätzle, n.u.l.l., Lescher, B., Rensing, C., Hildebrandt, F. J. Am. Soc. Nephrol. (2000) [Pubmed]
  23. Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis. Zerres, K., Völpel, M.C., Weiss, H. Hum. Genet. (1984) [Pubmed]
  24. Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers. APN Study Group. Hildebrandt, F., Singh-Sawhney, I., Schnieders, B., Papenfuss, T., Brandis, M. Genomics (1995) [Pubmed]
  25. Persistent post-transplant polyuria managed by bilateral native-kidney laparoscopic nephrectomy. Kravarusic, D., Sigalet, D.L., Hamiwka, L.A., Midgley, J.P., Wade, A.W., Grisaru, S. Pediatr. Nephrol. (2006) [Pubmed]
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