plakophilin 1 Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis. Defects in PKP1 are the cause of ectodermal dysplasia- skin fragility syndrome (EDSFS); also known as McGrath syndrome. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDSFS is characterized by features of both cutaneous fragility and congenital ectodermal dysplasia affecting 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. Belongs to the beta-catenin family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Cell adhesion; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 1|1 E4
Cellular Component:  cell junction; cell-cell adherens junction; cytoplasm; desmosome; intercellular junction; intracellular membrane-bound organelle; nucleoplasm; nucleus; plasma membrane
Molecular Function:  cadherin binding; lamin binding; protein binding
Biological Process:  cell adhesion; intercellular junction assembly; intermediate filament bundle assembly; negative regulation of mRNA catabolic process; positive regulation of gene expression; regulation of signal transduction
Reference #:  P97350 (UniProtKB)
Alt. Names/Synonyms: AI528551; OTTMUSP00000025630; Pkp1; plakophilin 1; Plakophilin-1
Gene Symbols: Pkp1
Molecular weight: 80,896 Da
Basal Isoelectric point: 9.15  Predict pI for various phosphorylation states
Select Structure to View Below

plakophilin 1

Protein Structure Not Found.

Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  Phospho.ELM  |  NetworKIN  |  UniProtKB  |  Entrez-Gene  |  Ensembl Gene