Plakophilin-1 Explained

Plakophilin-1 is a protein that in humans is encoded by the PKP1 gene.^{[1] [2]}

Function

This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome.

Interactions

PKP1 has been shown to interact with Desmoplakin.^[3]

See also

• Skin fragility syndrome

Further reading

• Hatzfeld M, Kristjansson GI, Plessmann U, Weber K . Band 6 protein, a major constituent of desmosomes from stratified epithelia, is a novel member of the armadillo multigene family. . J. Cell Sci. . (Pt 8) . 2259–70 . 1995 . 7527055 . 107 . 8 . 10.1242/jcs.107.8.2259 .
• Heid HW, Schmidt A, Zimbelmann R, Schäfer S, Winter-Simanowski S, Stumpp S, Keith M, Figge U, Schnölzer M, Franke WW . Cell type-specific desmosomal plaque proteins of the plakoglobin family: plakophilin 1 (band 6 protein). . Differentiation . 58 . 2 . 113–31 . 1995 . 7890138 . 10.1046/j.1432-0436.1995.5820113.x .
• McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA . Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. . Nat. Genet. . 17 . 2 . 240–4 . 1997 . 9326952 . 10.1038/ng1097-240 . 23284411 .
• Schmidt A, Langbein L, Rode M, Prätzel S, Zimbelmann R, Franke WW . Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components. . Cell Tissue Res. . 290 . 3 . 481–99 . 1998 . 9369526 . 10.1007/s004410050956 . 6183059 .
• Smith EA, Fuchs E . Defining the interactions between intermediate filaments and desmosomes. . J. Cell Biol. . 141 . 5 . 1229–41 . 1998 . 9606214 . 2137181 . 10.1083/jcb.141.5.1229 .
• Bonné S, van Hengel J, van Roy F . Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily. . Genomics . 51 . 3 . 452–4 . 1998 . 9721216 . 10.1006/geno.1998.5398 .
• Schmidt A, Langbein L, Prätzel S, Rode M, Rackwitz HR, Franke WW . Plakophilin 3--a novel cell-type-specific desmosomal plaque protein. . Differentiation . 64 . 5 . 291–306 . 1999 . 10374265 . 10.1046/j.1432-0436.1999.6450291.x .
• Hofmann I, Mertens C, Brettel M, Nimmrich V, Schnölzer M, Herrmann H . Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis. . J. Cell Sci. . (Pt 13) . 2471–83 . 2000 . 10852826 . 113 . 13 . 10.1242/jcs.113.13.2471 .
• Hofmann I, Mücke N, Reed J, Herrmann H, Langowski J . Physical characterization of plakophilin 1 reconstituted with and without zinc. . Eur. J. Biochem. . 267 . 14 . 4381–9 . 2000 . 10880961 . 10.1046/j.1432-1327.2000.01483.x . free .
• Whittock NV, Haftek M, Angoulvant N, Wolf F, Perrot H, Eady RA, McGrath JA . Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. . J. Invest. Dermatol. . 115 . 3 . 368–74 . 2000 . 10951270 . 10.1046/j.1523-1747.2000.00082.x . free .
• Chen X, Bonne S, Hatzfeld M, van Roy F, Green KJ . Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling. . J. Biol. Chem. . 277 . 12 . 10512–22 . 2002 . 11790773 . 10.1074/jbc.M108765200 . free .
• Hamada T, South AP, Mitsuhashi Y, Kinebuchi T, Bleck O, Ashton GH, Hozumi Y, Suzuki T, Hashimoto T, Eady RA, McGrath JA . Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. . Exp. Dermatol. . 11 . 2 . 107–14 . 2002 . 11994137 . 10.1034/j.1600-0625.2002.110202.x . 37777985 .
• McMillan JR, Haftek M, Akiyama M, South AP, Perrot H, McGrath JA, Eady RA, Shimizu H . 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. . J. Invest. Dermatol. . 121 . 1 . 96–103 . 2003 . 12839569 . 10.1046/j.1523-1747.2003.12324.x . free .
• South AP, Wan H, Stone MG, Dopping-Hepenstal PJ, Purkis PE, Marshall JF, Leigh IM, Eady RA, Hart IR, McGrath JA . Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability. . J. Cell Sci. . 116 . Pt 16 . 3303–14 . 2004 . 12840072 . 10.1242/jcs.00636 . free .
• Cheng X, Mihindukulasuriya K, Den Z, Kowalczyk AP, Calkins CC, Ishiko A, Shimizu A, Koch PJ . Assessment of splice variant-specific functions of desmocollin 1 in the skin. . Mol. Cell. Biol. . 24 . 1 . 154–63 . 2004 . 14673151 . 303333 . 10.1128/MCB.24.1.154-163.2004 .
• Choi HJ, Weis WI . Structure of the armadillo repeat domain of plakophilin 1. . J. Mol. Biol. . 346 . 1 . 367–76 . 2005 . 15663951 . 10.1016/j.jmb.2004.11.048 .
• Wahl JK . A role for plakophilin-1 in the initiation of desmosome assembly. . J. Cell. Biochem. . 96 . 2 . 390–403 . 2005 . 15988759 . 10.1002/jcb.20514 . 25717190 .
• Zheng R, Bu DF, Zhu XJ . Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. . Acta Derm. Venereol. . 85 . 5 . 394–9 . 2006 . 16159729 . 10.1080/00015550510037684 . free .

Notes and References

1. Cowley CM, Simrak D, Spurr NK, Arnemann J, Buxton RS . The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively . Hum Genet . 100 . 3–4 . 486–8 . September 1997 . 9272178 . 10.1007/s004390050539 . 12384017 .
2. Web site: Entrez Gene: PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome).
3. Hofmann I, Mertens C, Brettel M, Nimmrich V, Schnölzer M, Herrmann H . Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis . J. Cell Sci. . (Pt 13) . 2471–83 . July 2000 . 10852826 . 113 . 13 . 10.1242/jcs.113.13.2471 .