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Gene Review

PLEC  -  plectin

Homo sapiens

Synonyms: EBS1, EBSO, HD1, Hemidesmosomal protein 1, LGMD2Q, ...
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Disease relevance of PLEC1


High impact information on PLEC1


Chemical compound and disease context of PLEC1


Biological context of PLEC1

  • The corresponding human gene (PLEC1), consisting of 33 exons spanning >26 kb of genomic DNA was cloned, sequenced, and mapped to chromosomal band 8q24 [14].
  • Second, a heterozygous missense mutation (R2110W) in PLEC1 has been documented in patients with EB simplex of the Ogna type, a rare autosomal dominant disorder [15].
  • Transient transfection of full-length plectin cDNA converted these aggregates to thin filaments, which exhibited diffuse cytoplasmic distribution [4].
  • We show here sequestering of receptor for activated C kinase 1 (RACK1) to the cytoskeleton through the cytoskeletal linker protein plectin during the initial stages of cell adhesion [16].
  • Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24) [17].

Anatomical context of PLEC1


Associations of PLEC1 with chemical compounds

  • Our findings provide evidence for additional molecular heterogeneity in EB, and emphasize the importance of screening EB-PA patients not only for alpha6beta4 integrin but also for plectin deficiency [2].
  • In an in vitro overlay assay using recombinant plectin peptides spanning exons 2 to 15 the insertion of leucine resulted in markedly increased self-aggregation of plectin peptides [19].
  • Mutation 2727del14 is the first genetic defect described in PLEC1 that disrupts the plakin domain of plectin [20].
  • Sensitivity of plectin kinase activity to the inhibitor olomoucine, and two-dimensional tryptic peptide mapping of plectin phosphorylated by various kinase preparations suggested that the major plectin kinase activity in mitotic extracts is related to the cell cycle regulator kinase p34cdc2 [21].
  • The primary target of HG autoantibodies is BP180, a 180-kDa hemidesmosomal glycoprotein [22].

Physical interactions of PLEC1

  • Overexpression of the plectin IF-binding domain in the T cell line Jurkat induces the perinuclear aggregation of vimentin IFs [18].
  • Modeling and experimental validation of the binary complex of the plectin actin-binding domain and the first pair of fibronectin type III (FNIII) domains of the beta4 integrin [23].
  • Using postembedding immunogold electron microscopy, we previously demonstrated that autoantibodies against the 230-kDa BP antigen (BPAG1) bind to the intracellular hemidesmosomal component of normal skin, whereas those against the 180-kDa BP antigen (BPAG2) bind only along the plasma membrane of hemidesmosomes [24].
  • An additional observation was that the cytoskeletal cross-linker protein plectin-1 coimmunoprecipitated with PDE3A independently of 14-3-3 binding [25].
  • Intermyofibrillar and subsarcolemmal accumulations of assembled but highly unordered desmin filaments may be attributed to impaired desmin binding capability of the mutant plectin [26].

Co-localisations of PLEC1


Other interactions of PLEC1


Analytical, diagnostic and therapeutic context of PLEC1


  1. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Pulkkinen, L., Smith, F.J., Shimizu, H., Murata, S., Yaoita, H., Hachisuka, H., Nishikawa, T., McLean, W.H., Uitto, J. Hum. Mol. Genet. (1996) [Pubmed]
  2. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. Pfendner, E., Uitto, J. J. Invest. Dermatol. (2005) [Pubmed]
  3. Plectin and IFAP-300K are homologous proteins binding to microtubule-associated proteins 1 and 2 and to the 240-kilodalton subunit of spectrin. Herrmann, H., Wiche, G. J. Biol. Chem. (1987) [Pubmed]
  4. Plectin regulates the organization of glial fibrillary acidic protein in Alexander disease. Tian, R., Gregor, M., Wiche, G., Goldman, J.E. Am. J. Pathol. (2006) [Pubmed]
  5. Immunoadsorption against two distinct epitopes on human type XVII collagen abolishes dermal-epidermal separation induced in vitro by autoantibodies from pemphigoid gestationis patients. Herrero-González, J.E., Brauns, O., Egner, R., Rönspeck, W., Mascaró, J.M., Jonkman, M.F., Zillikens, D., Sitaru, C. Eur. J. Immunol. (2006) [Pubmed]
  6. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Smith, F.J., Eady, R.A., Leigh, I.M., McMillan, J.R., Rugg, E.L., Kelsell, D.P., Bryant, S.P., Spurr, N.K., Geddes, J.F., Kirtschig, G., Milana, G., de Bono, A.G., Owaribe, K., Wiche, G., Pulkkinen, L., Uitto, J., McLean, W.H., Lane, E.B. Nat. Genet. (1996) [Pubmed]
  7. Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice. Aszterbaum, M., Epstein, J., Oro, A., Douglas, V., LeBoit, P.E., Scott, M.P., Epstein, E.H. Nat. Med. (1999) [Pubmed]
  8. Hemidesmosomes: roles in adhesion, signaling and human diseases. Borradori, L., Sonnenberg, A. Curr. Opin. Cell Biol. (1996) [Pubmed]
  9. Not just scaffolding: plectin regulates actin dynamics in cultured cells. Andrä, K., Nikolic, B., Stöcher, M., Drenckhahn, D., Wiche, G. Genes Dev. (1998) [Pubmed]
  10. Molecular mapping of a pathogenically relevant BP180 epitope associated with experimentally induced murine bullous pemphigoid. Liu, Z., Diaz, L.A., Swartz, S.J., Troy, J.L., Fairley, J.A., Giudice, G.J. J. Immunol. (1995) [Pubmed]
  11. Acquired skin disease of hemidesmosomes. Zillikens, D. J. Dermatol. Sci. (1999) [Pubmed]
  12. Pegylated liposome-encapsulated doxorubicin and cisplatin in the treatment of head and neck xenograft tumours. Harrington, K.J., Rowlinson-Busza, G., Uster, P.S., Stewart, J.S. Cancer Chemother. Pharmacol. (2000) [Pubmed]
  13. Drug resistance and drug combination features of the human immunodeficiency virus inhibitor, BCH-10652 [(+/-)-2'-deoxy-3'-oxa-4'-thiocytidine, dOTC]. Taylor, D.L., Ahmed, P.S., Tyms, A.S., Wood, L.J., Kelly, L.A., Chambers, P., Clarke, J., Bedard, J., Bowlin, T.L., Rando, R.F. Antivir. Chem. Chemother. (2000) [Pubmed]
  14. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. McLean, W.H., Pulkkinen, L., Smith, F.J., Rugg, E.L., Lane, E.B., Bullrich, F., Burgeson, R.E., Amano, S., Hudson, D.L., Owaribe, K., McGrath, J.A., McMillan, J.R., Eady, R.A., Leigh, I.M., Christiano, A.M., Uitto, J. Genes Dev. (1996) [Pubmed]
  15. Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations. Pfendner, E., Rouan, F., Uitto, J. Exp. Dermatol. (2005) [Pubmed]
  16. Plectin-RACK1 (receptor for activated C kinase 1) scaffolding: a novel mechanism to regulate protein kinase C activity. Osmanagic-Myers, S., Wiche, G. J. Biol. Chem. (2004) [Pubmed]
  17. Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24). Liu, C.G., Maercker, C., Castañon, M.J., Hauptmann, R., Wiche, G. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  18. Cutting edge: integration of human T lymphocyte cytoskeleton by the cytolinker plectin. Brown, M.J., Hallam, J.A., Liu, Y., Yamada, K.M., Shaw, S. J. Immunol. (2001) [Pubmed]
  19. A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency. Bauer, J.W., Rouan, F., Kofler, B., Rezniczek, G.A., Kornacker, I., Muss, W., Hametner, R., Klausegger, A., Huber, A., Pohla-Gubo, G., Wiche, G., Uitto, J., Hintner, H. Am. J. Pathol. (2001) [Pubmed]
  20. Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin. Charlesworth, A., Gagnoux-Palacios, L., Bonduelle, M., Ortonne, J.P., De Raeve, L., Meneguzzi, G. J. Invest. Dermatol. (2003) [Pubmed]
  21. Identification of plectin as a substrate of p34cdc2 kinase and mapping of a single phosphorylation site. Malecz, N., Foisner, R., Stadler, C., Wiche, G. J. Biol. Chem. (1996) [Pubmed]
  22. Molecular mapping of the major epitopes of BP180 recognized by herpes gestationis autoantibodies. Lin, M.S., Gharia, M., Fu, C.L., Olague-Marchan, M., Hacker, M., Harman, K.E., Bhogal, B.S., Black, M.M., Diaz, L.A., Giudice, G.J. Clin. Immunol. (1999) [Pubmed]
  23. Modeling and experimental validation of the binary complex of the plectin actin-binding domain and the first pair of fibronectin type III (FNIII) domains of the beta4 integrin. Litjens, S.H., Wilhelmsen, K., de Pereda, J.M., Perrakis, A., Sonnenberg, A. J. Biol. Chem. (2005) [Pubmed]
  24. Precise ultrastructural localization of in vivo deposited IgG antibodies in fresh perilesional skin of patients with bullous pemphigoid. Sato, M., Shimizu, H., Ishiko, A., Masunaga, T., Akiyama, M., Hashimoto, T., Kitajima, Y., Nishikawa, T. Br. J. Dermatol. (1998) [Pubmed]
  25. Phosphodiesterase 3A binds to 14-3-3 proteins in response to PMA-induced phosphorylation of Ser428. Pozuelo Rubio, M., Campbell, D.G., Morrice, N.A., Mackintosh, C. Biochem. J. (2005) [Pubmed]
  26. Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. Schröder, R., Kunz, W.S., Rouan, F., Pfendner, E., Tolksdorf, K., Kappes-Horn, K., Altenschmidt-Mehring, M., Knoblich, R., van der Ven, P.F., Reimann, J., Fürst, D.O., Blümcke, I., Vielhaber, S., Zillikens, D., Eming, S., Klockgether, T., Uitto, J., Wiche, G., Rolfs, A. J. Neuropathol. Exp. Neurol. (2002) [Pubmed]
  27. Molecular genetic studies of a human epidermal autoantigen (the 180-kD bullous pemphigoid antigen/BP180): identification of functionally important sequences within the BP180 molecule and evidence for an interaction between BP180 and alpha 6 integrin. Hopkinson, S.B., Baker, S.E., Jones, J.C. J. Cell Biol. (1995) [Pubmed]
  28. Loss of co-localization of alpha 6 beta 4 integrin and collagen VII in bladder cancer. Liebert, M., Washington, R., Wedemeyer, G., Carey, T.E., Grossman, H.B. Am. J. Pathol. (1994) [Pubmed]
  29. Association of plectin with Z-discs is a prerequisite for the formation of the intermyofibrillar desmin cytoskeleton. Schröder, R., Fürst, D.O., Klasen, C., Reimann, J., Herrmann, H., van der Ven, P.F. Lab. Invest. (2000) [Pubmed]
  30. Primary longitudinal adhesion structures: plectin-containing precursors of costameres in differentiating human skeletal muscle cells. Schröder, R., Pacholsky, D., Reimann, J., Matten, J., Wiche, G., Fürst, D.O., van der Ven, P.F. Histochem. Cell Biol. (2002) [Pubmed]
  31. Re-epithelialization rate and protein expression in the suction-induced wound model: comparison between intact blisters, open wounds and calcipotriol-pretreated open wounds. Leivo, T., Kiistala, U., Vesterinen, M., Owaribe, K., Burgeson, R.E., Virtanen, I., Oikarinen, A. Br. J. Dermatol. (2000) [Pubmed]
  32. Studies of hemidesmosomes in human amnion: the use of a detergent extraction protocol for compositional and ultrastructural analysis and preparation of a hemidesmosome-enriched fraction from tissue. Behzad, F., Jones, C.J., Ball, S., Alvares, T., Aplin, J.D. Acta anatomica. (1995) [Pubmed]
  33. Fully functional, naturally occurring and C-terminally truncated variant human immunodeficiency virus (HIV) Vif does not bind to HIV Gag but influences intermediate filament structure. Henzler, T., Harmache, A., Herrmann, H., Spring, H., Suzan, M., Audoly, G., Panek, T., Bosch, V. J. Gen. Virol. (2001) [Pubmed]
  34. Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. Gache, Y., Chavanas, S., Lacour, J.P., Wiche, G., Owaribe, K., Meneguzzi, G., Ortonne, J.P. J. Clin. Invest. (1996) [Pubmed]
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