PKP1

PKP1 is 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.

Full Name

Plakophilin 1

Function

Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis.

Biological Process

Cell adhesion1 PublicationNAS:UniProtKB
Cell-cell adhesionManual Assertion Based On ExperimentIBA:GO_Central
Cell-cell junction assemblyManual Assertion Based On ExperimentIBA:GO_Central
Intermediate filament bundle assemblyManual Assertion Based On ExperimentIDA:BHF-UCL
Negative regulation of mRNA catabolic processManual Assertion Based On ExperimentIMP:CAFA
Positive regulation of gene expressionManual Assertion Based On ExperimentIMP:CAFA
Signal transduction1 PublicationNAS:UniProtKB

Cellular Location

Isoform 1
Nucleus
Cell junction, desmosome
Nucleus

Involvement in disease

Ectodermal dysplasia-skin fragility syndrome (EDSFS):
A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting skin, hair and nails. There is no evidence of significant abnormalities in other epithelia or tissues. Desmosomes in the skin are small and poorly formed with widening of keratinocyte intercellular spaces and perturbed desmosome/keratin intermediate filament interactions.