Gene Symbol: nphp-4
Description: NePHronoPhthisis (human kidney disease) homolog
Alias: NePHronoPhthisis (human kidney disease) homolog
Species: Caenorhabditis elegans

Top Publications

  1. Wolf M, Lee J, Panther F, Otto E, Guan K, Hildebrandt F. Expression and phenotype analysis of the nephrocystin-1 and nephrocystin-4 homologs in Caenorhabditis elegans. J Am Soc Nephrol. 2005;16:676-87 pubmed
    ..The NPHP homologs may be necessary for initial assembly of the cilium, whereas the polycystic kidney disease homologs may function as sensory transducers. ..
  2. Jauregui A, Barr M. Functional characterization of the C. elegans nephrocystins NPHP-1 and NPHP-4 and their role in cilia and male sensory behaviors. Exp Cell Res. 2005;305:333-42 pubmed
    ..nphp-1; nphp-4 double, but not single, mutant males are response defective. We propose that NPHP-1 and NPHP-4 proteins play important and redundant roles in facilitating ciliary sensory signal transduction. ..
  3. Williams C, Winkelbauer M, Schafer J, Michaud E, Yoder B. Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis. Mol Biol Cell. 2008;19:2154-68 pubmed publisher
    ..Together, these data suggest that the human homologues of the novel B9 genes B9D2 and B9D1 will be strong candidate loci for pathologies in human MKS, NPHP, and JBTS. ..
  4. Bialas N, Inglis P, Li C, Robinson J, Parker J, Healey M, et al. Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. J Cell Sci. 2009;122:611-24 pubmed publisher
    ..Our findings therefore demonstrate functional interactions between a novel family of proteins associated with basal bodies or cilia, providing new insights into the molecular etiology of a pleiotropic human disorder. ..
  5. Jauregui A, Nguyen K, Hall D, Barr M. The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure. J Cell Biol. 2008;180:973-88 pubmed publisher
  6. Williams C, Masyukova S, Yoder B. Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4. J Am Soc Nephrol. 2010;21:782-93 pubmed publisher
    ..elegans sensilla. Taken together, these data demonstrate the importance of mutational load on the presentation and severity of ciliopathies and expand the understanding of the interactions between ciliopathy genes. ..
  7. Williams C, Li C, Kida K, Inglis P, Mohan S, Semenec L, et al. MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. J Cell Biol. 2011;192:1023-41 pubmed publisher
  8. Huang L, Szymanska K, Jensen V, Janecke A, Innes A, Davis E, et al. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet. 2011;89:713-30 pubmed publisher
    ..Collectively, our findings integrate TMEM237/JBTS-14 in a complex interaction network of TZ-associated proteins and reveal a growing contribution of a TZ functional module to the spectrum of ciliopathy phenotypes. ..
  9. Liu L, Zhang M, Xia Z, Xu P, Chen L, Xu T. Caenorhabditis elegans ciliary protein NPHP-8, the homologue of human RPGRIP1L, is required for ciliogenesis and chemosensation. Biochem Biophys Res Commun. 2011;410:626-31 pubmed publisher
    ..Our data suggest that NPHP-8/RPGRIP1L plays an important role in cilia formation and cilia-mediated chemosensation in a cell type-specific manner. ..

More Information


  1. Masyukova S, Landis D, Henke S, Williams C, Pieczynski J, Roszczynialski K, et al. A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4. PLoS Genet. 2016;12:e1005841 pubmed publisher
    ..Moreover, data suggest human OSM-3 homolog (Kif17) could act as a modifying locus affecting disease penetrance or expressivity in NPHP patients. ..
  2. Lambacher N, Bruel A, van Dam T, Szymańska K, Slaats G, Kuhns S, et al. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nat Cell Biol. 2016;18:122-31 pubmed publisher
    ..This work expands the MKS module of ciliopathy-causing TZ proteins associated with diffusion barrier formation and provides insight into TZ subdomain architecture. ..
  3. Li C, Jensen V, Park K, Kennedy J, Garcia Gonzalo F, Romani M, et al. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. PLoS Biol. 2016;14:e1002416 pubmed publisher
    ..Together, our findings expand the repertoire of MKS module-associated proteins--including the previously uncharacterised mammalian Tmem80--and suggest an MKS-5 and CEP-290-dependent assembly pathway for building a functional TZ. ..