Pkp1 Gene Summary [Mouse]
Predicted to enable DNA binding activity; cadherin binding activity; and lamin binding activity. Involved in several processes, including ameloblast differentiation; desmosome organization; and positive regulation of keratinocyte differentiation. Located in several cellular components, including desmosome; nucleus; and plasma membrane. Is active in cornified envelope. Is expressed in several structures, including alimentary system; respiratory system; sensory organ; skin; and urinary system. Human ortholog(s) of this gene implicated in ectodermal dysplasia. Orthologous to human PKP1 (plakophilin 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pkp1 |
| Official Name | plakophilin 1 [Source:MGI Symbol;Acc:MGI:1328359] |
| Ensembl ID | ENSMUSG00000026413 |
| Bio databases IDs | |
| Aliases | plakophilin 1 |
| Synonyms | B6P, Band-6-protein, EDSFS, plakophilin 1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Pkp1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Armadillo/beta-catenin-like repeat
- Armadillo/beta-catenin-like repeats
- lamin binding
- protein binding
- head domain
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- weight loss
- psoriasis
- ectodermal dysplasia-skin fragility syndrome
- androgenic alopecia
- panic disorder
role in cell
- proliferation
- differentiation
- formation
- adhesion
- growth
- abnormal morphology
- assembly
- function
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- detergent-insoluble fractions
- cornified envelope
- ribonucleoprotein granule
- Cytoplasm
- cell borders
- perinuclear region
- Nucleus
- Mitochondria
- intermediate filaments
- actin filaments
- desmosomes
- cell-cell contacts
- secretory granule membrane
- nucleoplasm
- cellular protrusions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pkp1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- positive regulation of gene expression
- intermediate filament bundle assembly
- cell adhesion
Cellular Component
Where in the cell the gene product is active
- nucleus
- cornified envelope
- adherens junction
- cytoplasm
- intermediate filament
- desmosome
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- structural constituent of epidermis
- protein binding
- cadherin binding
- lamin binding
- intermediate filament binding