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

General

phosphoprotein plakophilin

Properties

SIZE: entity length = 747 aa MW = 83 kD COMPARTMENT: cell nucleus MOTIF: Ser phosphorylation site {S65} Ser phosphorylation site {S155} Ser phosphorylation site {S205} Tyr phosphorylation site {Y214} Ser phosphorylation site {S225} Ser phosphorylation site {S229} ARM repeat {243-274} ARM repeat {275-316} ARM repeat {317-359} ARM repeat {360-415} ARM repeat {416-463} Tyr phosphorylation site {Y499} ARM repeat {525-556} ARM repeat {557-603} ARM repeat {604-649} ARM repeat {650-713}

Database Correlations

OMIM correlations MORBIDMAP 601975 UniProt Q13835 Pfam PF00514 Entrez Gene 5317 Kegg hsa:5317

References

UniProt :accession Q13835