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Gene Review

Pkd1  -  polycystic kidney disease 1 homolog

Mus musculus

Synonyms: Autosomal dominant polycystic kidney disease 1 protein homolog, PC-1, PC1, Polycystin-1, mFLJ00285, ...
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Disease relevance of Pkd1


High impact information on Pkd1


Biological context of Pkd1

  • We additionally show that Pkd1 null proximal tubule cells generated from Pkd1(flox/-):TSLargeT mice by in vitro Cre recombinase transfection demonstrate diminished spreading when compared with Pkd(flox/-) heterozygous parental cells [4].
  • Here we describe mice carrying a targeted mutation in Pkd1 (Pkd1(del17-21betageo)), which defines its expression pattern by using a lacZ reporter gene and may identify novel functions for polycystin-1 [9].
  • Pkd1(m1Bei) mice have inactivating missense mutations of Pkd1 gene that encode PC1 [10].
  • Interestingly, we also identified a novel site for a polycystin member (polycystin-L) in unciliated cells, the centrosome, which allowed us to reveal an involvement of polycystin-l in cell proliferation [11].
  • In contrast, antibodies raised to other extracellular domains of polycystin-1 had no effect on cell adhesion [12].

Anatomical context of Pkd1


Associations of Pkd1 with chemical compounds


Physical interactions of Pkd1

  • We also show that PC1 C-terminal cytosolic domain binds to Galpha12, Galphas, and Galphai1, while it weakly interacts with Galphai2 [19].
  • It is hypothesized that the gene encoding the polycystin-binding partner RGS7 is a candidate for the Chr 1 genetic modifier [20].

Co-localisations of Pkd1


Regulatory relationships of Pkd1


Other interactions of Pkd1

  • 5. This expression coincides with the onset of cyst formation in Pkd1(del34) -/-, Pkd1(L) -/-, and Pkd2-/- mice, supporting the hypothesis that polycystin-1 and polycystin-2 interact in vivo and that their failure to do so leads to abnormalities in tubule morphology and function [9].
  • Reciprocal coimmunoprecipitation experiments showed that polycystin-L was associated with polycystin-1 in a common complex in both subconfluent and confluent cell cultures [11].
  • It is caused by mutations in PKD1 or PKD2, encoding polycystin-1 and -2, which together form a cell surface nonselective cation ion channel [9].
  • In Pkd1 null mice, ectopic expression of Cux-1 is associated with increased cell proliferation [24].
  • CONCLUSION: These results suggest that cyst development in Pkd1 null mice and cpk mice proceeds through different mechanisms [24].

Analytical, diagnostic and therapeutic context of Pkd1


  1. Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease. Wu, G., Tian, X., Nishimura, S., Markowitz, G.S., D'Agati, V., Park, J.H., Yao, L., Li, L., Geng, L., Zhao, H., Edelmann, W., Somlo, S. Hum. Mol. Genet. (2002) [Pubmed]
  2. A functional floxed allele of Pkd1 that can be conditionally inactivated in vivo. Piontek, K.B., Huso, D.L., Grinberg, A., Liu, L., Bedja, D., Zhao, H., Gabrielson, K., Qian, F., Mei, C., Westphal, H., Germino, G.G. J. Am. Soc. Nephrol. (2004) [Pubmed]
  3. Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney. Ward, C.J., Turley, H., Ong, A.C., Comley, M., Biddolph, S., Chetty, R., Ratcliffe, P.J., Gattner, K., Harris, P.C. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  4. The polycystin 1-C-terminal fragment stimulates ERK-dependent spreading of renal epithelial cells. Joly, D., Ishibe, S., Nickel, C., Yu, Z., Somlo, S., Cantley, L.G. J. Biol. Chem. (2006) [Pubmed]
  5. Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes. Lu, W., Fan, X., Basora, N., Babakhanlou, H., Law, T., Rifai, N., Harris, P.C., Perez-Atayde, A.R., Rennke, H.G., Zhou, J. Nat. Genet. (1999) [Pubmed]
  6. Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation. Lu, W., Peissel, B., Babakhanlou, H., Pavlova, A., Geng, L., Fan, X., Larson, C., Brent, G., Zhou, J. Nat. Genet. (1997) [Pubmed]
  7. Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus. Chauvet, V., Tian, X., Husson, H., Grimm, D.H., Wang, T., Hiesberger, T., Hieseberger, T., Igarashi, P., Bennett, A.M., Ibraghimov-Beskrovnaya, O., Somlo, S., Caplan, M.J. J. Clin. Invest. (2004) [Pubmed]
  8. The polycystin-1 C-terminal fragment triggers branching morphogenesis and migration of tubular kidney epithelial cells. Nickel, C., Benzing, T., Sellin, L., Gerke, P., Karihaloo, A., Liu, Z.X., Cantley, L.G., Walz, G. J. Clin. Invest. (2002) [Pubmed]
  9. Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene. Boulter, C., Mulroy, S., Webb, S., Fleming, S., Brindle, K., Sandford, R. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  10. Cilia-like Structures and Polycystin-1 in Osteoblasts/Osteocytes and Associated Abnormalities in Skeletogenesis and Runx2 Expression. Xiao, Z., Zhang, S., Mahlios, J., Zhou, G., Magenheimer, B.S., Guo, D., Dallas, S.L., Maser, R., Calvet, J.P., Bonewald, L., Quarles, L.D. J. Biol. Chem. (2006) [Pubmed]
  11. More than colocalizing with polycystin-1, polycystin-L is in the centrosome. Bui-Xuan, E.F., Li, Q., Chen, X.Z., Boucher, C.A., Sandford, R., Zhou, J., Basora, N. Am. J. Physiol. Renal Physiol. (2006) [Pubmed]
  12. Functional analysis of PKD1 transgenic lines reveals a direct role for polycystin-1 in mediating cell-cell adhesion. Streets, A.J., Newby, L.J., O'Hare, M.J., Bukanov, N.O., Ibraghimov-Beskrovnaya, O., Ong, A.C. J. Am. Soc. Nephrol. (2003) [Pubmed]
  13. Identification, characterization, and localization of a novel kidney polycystin-1-polycystin-2 complex. Newby, L.J., Streets, A.J., Zhao, Y., Harris, P.C., Ward, C.J., Ong, A.C. J. Biol. Chem. (2002) [Pubmed]
  14. Murine Pkd1 is a developmentally regulated gene from morula to adulthood: role in tissue condensation and patterning. Guillaume, R., D'Agati, V., Daoust, M., Trudel, M. Dev. Dyn. (1999) [Pubmed]
  15. Autosomal dominant polycystic kidney disease: clues to pathogenesis. Harris, P.C. Hum. Mol. Genet. (1999) [Pubmed]
  16. Identification of a human homologue of the sea urchin receptor for egg jelly: a polycystic kidney disease-like protein. Hughes, J., Ward, C.J., Aspinwall, R., Butler, R., Harris, P.C. Hum. Mol. Genet. (1999) [Pubmed]
  17. Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype. Yamaguchi, T., Wallace, D.P., Magenheimer, B.S., Hempson, S.J., Grantham, J.J., Calvet, J.P. J. Biol. Chem. (2004) [Pubmed]
  18. Polycystin: new aspects of structure, function, and regulation. Wilson, P.D. J. Am. Soc. Nephrol. (2001) [Pubmed]
  19. Polycystin-1L2 is a novel G-protein-binding protein. Yuasa, T., Takakura, A., Denker, B.M., Venugopal, B., Zhou, J. Genomics (2004) [Pubmed]
  20. Quantitative trait loci modulate renal cystic disease severity in the mouse bpk model. Guay-Woodford, L.M., Wright, C.J., Walz, G., Churchill, G.A. J. Am. Soc. Nephrol. (2000) [Pubmed]
  21. Polycystin-1 distribution is modulated by polycystin-2 expression in mammalian cells. Grimm, D.H., Cai, Y., Chauvet, V., Rajendran, V., Zeltner, R., Geng, L., Avner, E.D., Sweeney, W., Somlo, S., Caplan, M.J. J. Biol. Chem. (2003) [Pubmed]
  22. The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease. Shillingford, J.M., Murcia, N.S., Larson, C.H., Low, S.H., Hedgepeth, R., Brown, N., Flask, C.A., Novick, A.C., Goldfarb, D.A., Kramer-Zucker, A., Walz, G., Piontek, K.B., Germino, G.G., Weimbs, T. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  23. Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease. Stayner, C., Iglesias, D.M., Goodyer, P.R., Ellis, L., Germino, G., Zhou, J., Eccles, M.R. Hum. Mol. Genet. (2006) [Pubmed]
  24. Differential expression of Cux-1 and p21 in polycystic kidneys from Pkd1 null and cpk mice. Sharma, M., Brantley, J.G., Alcalay, N.I., Zhou, J., Heystek, E., Maser, R.L., Vanden Heuvel, G.B. Kidney Int. (2005) [Pubmed]
  25. Analysis of the polycystins in aortic vascular smooth muscle cells. Qian, Q., Li, M., Cai, Y., Ward, C.J., Somlo, S., Harris, P.C., Torres, V.E. J. Am. Soc. Nephrol. (2003) [Pubmed]
  26. Expression of polycystin in mouse metanephros and extra-metanephric tissues. Griffin, M.D., O'Sullivan, D.A., Torres, V.E., Grande, J.P., Kanwar, Y.S., Kumar, R. Kidney Int. (1997) [Pubmed]
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