plakophilin-1; band 6 protein; B6P (PKP1)

Function

• seems to play a role in junctional plaques
• contributes to epidermal morphogenesis

Structure

• belongs to the beta-catenin family
• contains 9 ARM repeats

Compartment

• isoform 1: nucleus, cell junction, desmosome

Alternative splicing

named isoforms=2

Expression

• isoform 2 is widely expressed
• isoform 1 is expressed in stratified squamous epithelium, complex epithelium, glandular duct epithelium & bladder epithelium

Pathology

• defects in PKP1 are the cause of ectodermal dysplasia/skin fragility syndrome

More general terms

• plakophilin
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5317
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5317
• OMIM: https://mirror.omim.org/entry/601975
• OMIM: https://mirror.omim.org/entry/604536
• UniProt: http://www.uniprot.org/uniprot/Q13835.html