PKP1

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Plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
Protein PKP1 PDB 1xm9.png
PDB rendering based on 1xm9.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PKP1 ; B6P
External IDs OMIM601975 MGI1328359 HomoloGene253 GeneCards: PKP1 Gene
Orthologs
Species Human Mouse
Entrez 5317 18772
Ensembl ENSG00000081277 ENSMUSG00000026413
UniProt Q13835 P97350
RefSeq (mRNA) NM_000299 NM_019645
RefSeq (protein) NP_000290 NP_062619
Location (UCSC) Chr 1:
201.25 – 201.3 Mb
Chr 1:
135.87 – 135.92 Mb
PubMed search [1] [2]

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

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.[2]

Interactions[edit]

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

See also[edit]

References[edit]

  1. ^ Cowley CM, Simrak D, Spurr NK, Arnemann J, Buxton RS (September 1997). "The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively". Hum Genet 100 (3-4): 486–8. doi:10.1007/s004390050539. PMID 9272178. 
  2. ^ a b "Entrez Gene: PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)". 
  3. ^ Hofmann, I; Mertens C, Brettel M, Nimmrich V, Schnölzer M, Herrmann H (July 2000). "Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis". J. Cell. Sci. 113 (ENGLAND). ( Pt 13): 2471–83. ISSN 0021-9533. PMID 10852826. 

Further reading[edit]