PKP1

Plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
File:PBB Protein PKP1 image.jpg PDB rendering based on 1xm9.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1xm9​
Identifiers
Symbols	PKP1 ; B6P; MGC138829
External IDs	Template:OMIM5 Template:MGI HomoloGene: 253
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Plakophilin 1 (ectodermal dysplasia/skin fragility syndrome), also known as PKP1, is a human gene.

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.

Further reading

• Hatzfeld M, Kristjansson GI, Plessmann U, Weber K (1995). "Band 6 protein, a major constituent of desmosomes from stratified epithelia, is a novel member of the armadillo multigene family". J. Cell. Sci. 107 ( Pt 8): 2259–70. PMID 7527055.CS1 maint: Multiple names: authors list (link)
• Heid HW, Schmidt A, Zimbelmann R; et al. (1995). "Cell type-specific desmosomal plaque proteins of the plakoglobin family: plakophilin 1 (band 6 protein)". Differentiation. 58 (2): 113–31. PMID 7890138.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cowley CM, Simrak D, Spurr NK; et al. (1997). "The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively". Hum. Genet. 100 (3–4): 486–8. PMID 9272178.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McGrath JA, McMillan JR, Shemanko CS; et al. (1997). "Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome". Nat. Genet. 17 (2): 240–4. doi:10.1038/ng1097-240. PMID 9326952.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Schmidt A, Langbein L, Rode M; et al. (1998). "Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components". Cell Tissue Res. 290 (3): 481–99. PMID 9369526.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Smith EA, Fuchs E (1998). "Defining the interactions between intermediate filaments and desmosomes". J. Cell Biol. 141 (5): 1229–41. PMID 9606214.
• Bonné S, van Hengel J, van Roy F (1998). "Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily". Genomics. 51 (3): 452–4. doi:10.1006/geno.1998.5398. PMID 9721216.CS1 maint: Multiple names: authors list (link)
• Schmidt A, Langbein L, Prätzel S; et al. (1999). "Plakophilin 3--a novel cell-type-specific desmosomal plaque protein". Differentiation. 64 (5): 291–306. PMID 10374265.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hofmann I, Mertens C, Brettel M; et al. (2000). "Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis". J. Cell. Sci. 113 ( Pt 13): 2471–83. PMID 10852826.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hofmann I, Mücke N, Reed J; et al. (2000). "Physical characterization of plakophilin 1 reconstituted with and without zinc". Eur. J. Biochem. 267 (14): 4381–9. PMID 10880961.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Whittock NV, Haftek M, Angoulvant N; et al. (2000). "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. doi:10.1046/j.1523-1747.2000.00082.x. PMID 10951270.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chen X, Bonne S, Hatzfeld M; et al. (2002). "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. doi:10.1074/jbc.M108765200. PMID 11790773.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hamada T, South AP, Mitsuhashi Y; et al. (2002). "Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1". Exp. Dermatol. 11 (2): 107–14. PMID 11994137.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McMillan JR, Haftek M, Akiyama M; et al. (2003). "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. doi:10.1046/j.1523-1747.2003.12324.x. PMID 12839569.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• South AP, Wan H, Stone MG; et al. (2004). "Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability". J. Cell. Sci. 116 (Pt 16): 3303–14. doi:10.1242/jcs.00636. PMID 12840072.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cheng X, Mihindukulasuriya K, Den Z; et al. (2004). "Assessment of splice variant-specific functions of desmocollin 1 in the skin". Mol. Cell. Biol. 24 (1): 154–63. PMID 14673151.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Choi HJ, Weis WI (2005). "Structure of the armadillo repeat domain of plakophilin 1". J. Mol. Biol. 346 (1): 367–76. doi:10.1016/j.jmb.2004.11.048. PMID 15663951.
• Wahl JK (2005). "A role for plakophilin-1 in the initiation of desmosome assembly". J. Cell. Biochem. 96 (2): 390–403. doi:10.1002/jcb.20514. PMID 15988759.
• Zheng R, Bu DF, Zhu XJ (2006). "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. doi:10.1080/00015550510037684. PMID 16159729.CS1 maint: Multiple names: authors list (link)