PKP3 Gene Summary [Human]
This gene encodes 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 act in cellular desmosome-dependent adhesion and signaling pathways. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
Details
| Type | Protein Coding |
| Official Symbol | PKP3 |
| Official Name | plakophilin 3 [Source:HGNC Symbol;Acc:HGNC:9025] |
| Ensembl ID | ENSG00000184363 |
| Bio databases IDs | |
| Aliases | plakophilin 3 |
| Synonyms | 2310056L12Rik, plakophilin 3 |
| Species | Human, Homo sapiens |
| 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 human PKP3 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
- alpha-catenin binding
- cell adhesion molecule binding
- Armadillo/beta-catenin-like repeats
- enzyme binding
- protein binding
- PKPHR2 domain
- armadillo repeat domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- dermatitis
- dextran sodium sulfate-induced colitis
- endometrioma
- irritant contact dermatitis
- cachexia
- epidermal hyperplasia
- acanthosis
- keratocystic odontogenic tumor
- keratocystic odontogenic tumors
role in cell
- expression in
- phosphorylation in
- proliferation
- apoptosis
- growth
- assembly
- adhesion
- mobility
- cellular infiltration by
- ubiquitination in
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
- cornified envelope
- cell junction
- Cytoplasm
- Nucleus
- intercellular junctions
- desmosomes
- nucleoplasm
- cell-cell adherens junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PKP3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of translation
- desmosome assembly
- regulation of hair follicle development
- epithelial structure maintenance
- epithelial cell-cell adhesion
- desmosome organization
- regulation of cytokine production involved in immune response
- protein localization in plasma membrane
Cellular Component
Where in the cell the gene product is active
- nucleus
- adherens junction
- cornified envelope
- cell-cell junction
- cytoplasm
- cell junction
- desmosome
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- alpha-catenin binding
- protein binding
- cadherin binding
- cell adhesion molecule binding
- enzyme binding