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Gene Review

PKP1  -  plakophilin 1

Homo sapiens

Synonyms: B6P, Band 6 protein, Plakophilin-1
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Disease relevance of PKP1

  • Interestingly, patients with tumors in which PKP1 and PKP3 immunoreactivity was reduced or absent exhibited local recurrences or metastases, or both, as well as poor survival [1].
  • The recessive simplex types include EB with muscular dystrophy due to abnormal plectin, EB without muscular dystrophy in patients homozygous for K14 gene abnormalities, and skin fragility syndrome, with formation of acantholytic vesicles within the epidermis due to PKP1 gene mutations [2].
  • In contrast, all adenocarcinomas contained PKP 2 and-often abundantly-PKP 3 in desmosome-typical pattern, whereas PKP 1 was expressed only in prostate tumors [3].
  • Increased expression of delta-catenin/neural plakophilin-related armadillo protein is associated with the down-regulation and redistribution of E-cadherin and p120ctn in human prostate cancer [4].
  • The identification of the first congenital defect affecting a desmosome component was in the gene for plakophilin I which caused an autosomal recessive skin fragility-ectodermal dysplasia syndrome with skin, hair and nail defects [5].

High impact information on PKP1


Biological context of PKP1


Anatomical context of PKP1


Associations of PKP1 with chemical compounds


Physical interactions of PKP1


Other interactions of PKP1

  • Interestingly, like DP, PG and PP1 associate with epidermal keratins, although PG is considerably weaker in its ability to do so [20].
  • Plakophilin 1 and 2 (PKP1, PKP2) are members of the arm-repeat protein family [21].
  • PKP1 and PKP3 immunoreactivity was inversely correlated with tumor histological grade and was observed only in tumors that did not metastasize [1].
  • While there was no appreciable difference between ADO rates between the two lysis buffers for the LAMA3 PCR product (25% vs 26%), there were significant differences in ADO rates between ALB and PK for the CFTR PCR product (0% vs 23%) and the PKP1 PCR product (8% vs 56%) [22].
  • To address this issue, PCR amplification of three genes (CFTR, LAMA3 and PKP1) at different chromosomal loci was investigated [22].

Analytical, diagnostic and therapeutic context of PKP1


  1. Immunohistochemical localization of plakophilins (PKP1, PKP2, PKP3, and p0071) in primary oropharyngeal tumors: correlation with clinical parameters. Papagerakis, S., Shabana, A.H., Depondt, J., Gehanno, P., Forest, N. Hum. Pathol. (2003) [Pubmed]
  2. Genetic abnormalities and clinical classification of epidermolysis bullosa. Mitsuhashi, Y., Hashimoto, I. Arch. Dermatol. Res. (2003) [Pubmed]
  3. Differential expression of desmosomal plakophilins in various types of carcinomas: correlation with cell type and differentiation. Schwarz, J., Ayim, A., Schmidt, A., Jäger, S., Koch, S., Baumann, R., Dünne, A.A., Moll, R. Hum. Pathol. (2006) [Pubmed]
  4. Increased expression of delta-catenin/neural plakophilin-related armadillo protein is associated with the down-regulation and redistribution of E-cadherin and p120ctn in human prostate cancer. Lu, Q., Dobbs, L.J., Gregory, C.W., Lanford, G.W., Revelo, M.P., Shappell, S., Chen, Y.H. Hum. Pathol. (2005) [Pubmed]
  5. Desmosomes: structure and function in normal and diseased epidermis. McMillan, J.R., Shimizu, H. J. Dermatol. (2001) [Pubmed]
  6. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. McGrath, J.A., McMillan, J.R., Shemanko, C.S., Runswick, S.K., Leigh, I.M., Lane, E.B., Garrod, D.R., Eady, R.A. Nat. Genet. (1997) [Pubmed]
  7. The function of plakophilin 1 in desmosome assembly and actin filament organization. Hatzfeld, M., Haffner, C., Schulze, K., Vinzens, U. J. Cell Biol. (2000) [Pubmed]
  8. Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. Zheng, R., Bu, D.F., Zhu, X.J. Acta Derm. Venereol. (2005) [Pubmed]
  9. Plakophilin 3--a novel cell-type-specific desmosomal plaque protein. Schmidt, A., Langbein, L., Prätzel, S., Rode, M., Rackwitz, H.R., Franke, W.W. Differentiation (1999) [Pubmed]
  10. Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. McMillan, J.R., Haftek, M., Akiyama, M., South, A.P., Perrot, H., McGrath, J.A., Eady, R.A., Shimizu, H. J. Invest. Dermatol. (2003) [Pubmed]
  11. The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively. Cowley, C.M., Simrak, D., Spurr, N.K., Arnemann, J., Buxton, R.S. Hum. Genet. (1997) [Pubmed]
  12. Structure of the armadillo repeat domain of plakophilin 1. Choi, H.J., Weis, W.I. J. Mol. Biol. (2005) [Pubmed]
  13. Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling. Chen, X., Bonne, S., Hatzfeld, M., van Roy, F., Green, K.J. J. Biol. Chem. (2002) [Pubmed]
  14. Comparative analysis of armadillo family proteins in the regulation of a431 epithelial cell junction assembly, adhesion and migration. Setzer, S.V., Calkins, C.C., Garner, J., Summers, S., Green, K.J., Kowalczyk, A.P. J. Invest. Dermatol. (2004) [Pubmed]
  15. Plakophilin 1 interferes with plakoglobin binding to desmoplakin, yet together with plakoglobin promotes clustering of desmosomal plaque complexes at cell-cell borders. Bornslaeger, E.A., Godsel, L.M., Corcoran, C.M., Park, J.K., Hatzfeld, M., Kowalczyk, A.P., Green, K.J. J. Cell. Sci. (2001) [Pubmed]
  16. Resolution of the membrane moiety of the H+-ATPase complex into two kinds of subunits. Sone, N., Yoshida, M., Hirata, H., Kagawa, Y. Proc. Natl. Acad. Sci. U.S.A. (1978) [Pubmed]
  17. Photoaffinity labeling of glyceraldehyde-3-phosphate dehydrogenase by an aryl azide derivative of glucosamine in human erythrocytes. May, J.M. J. Biol. Chem. (1986) [Pubmed]
  18. Isolation and characterization of band 3, the predominant polypeptide of the human erythrocyte membrane. Yu, J., Steck, T.L. J. Biol. Chem. (1975) [Pubmed]
  19. Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome. Fassihi, H., Grace, J., Lashwood, A., Whittock, N.V., Braude, P.R., Pickering, S.J., McGrath, J.A. Br. J. Dermatol. (2006) [Pubmed]
  20. Defining the interactions between intermediate filaments and desmosomes. Smith, E.A., Fuchs, E. J. Cell Biol. (1998) [Pubmed]
  21. Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis. Hofmann, I., Mertens, C., Brettel, M., Nimmrich, V., Schnölzer, M., Herrmann, H. J. Cell. Sci. (2000) [Pubmed]
  22. A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis. Thornhill, A.R., McGrath, J.A., Eady, R.A., Braude, P.R., Handyside, A.H. Prenat. Diagn. (2001) [Pubmed]
  23. Physical characterization of plakophilin 1 reconstituted with and without zinc. Hofmann, I., Mücke, N., Reed, J., Herrmann, H., Langowski, J. Eur. J. Biochem. (2000) [Pubmed]
  24. Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report. Thornhill, A.R., Pickering, S.J., Whittock, N.V., Caller, J., Andritsos, V., Bickerstaff, H.E., Handyside, A.H., Eady, R.A., Braude, P.R., McGrath, J.A. Prenat. Diagn. (2000) [Pubmed]
  25. Carboxyl terminus of Plakophilin-1 recruits it to plasma membrane, whereas amino terminus recruits desmoplakin and promotes desmosome assembly. Sobolik-Delmaire, T., Katafiasz, D., Wahl, J.K. J. Biol. Chem. (2006) [Pubmed]
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