PKP1

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Plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
250px
PDB rendering based on 1xm9.
Available structures
PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB
Identifiers
Symbols PKP1 ; B6P; MGC138829
External IDs OMIM: 601975 MGI1328359 HomoloGene253
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 5317
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 18772

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| na
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000026413

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| na
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| P97350

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_000299 (mRNA)
NP_000290 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_019645 (mRNA)
NP_062619 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| na
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 1: 137.69 -  137.74 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
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.[1]

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.[1]

References

  1. 1.0 1.1 "Entrez Gene: PKP1 plakophilin 1 (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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

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