EPPK1 Gene Summary [Human]
The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013]
Details
| Type | Protein Coding |
| Official Symbol | EPPK1 |
| Official Name | epiplakin 1 [Source:HGNC Symbol;Acc:HGNC:15577] |
| Ensembl ID | ENSG00000261150 |
| Bio databases IDs | |
| Aliases | epiplakin 1, epidermal autoantigen 450K |
| Synonyms | 6230424I18Rik, EPIPL, EPIPL1, epiplakin 1, EPPK, Eppk1-ps1, LOC686567, PH0268 epidermal autoantigen 450K |
| Species | Human, Homo sapiens |
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 EPPK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- intermediate filament binding
- Plectin repeat
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- squamous cell lung cancer
- neoplasia
- endometrioid cancer
- lung squamous cell carcinoma
- renal clear cell adenocarcinoma
- renal clear cell cancer
- eosinophilic esophagitis
- head and neck squamous cell carcinoma
- head and neck squamous cell cancer
- lung adenocarcinoma
role in cell
- cell viability
- expression in
- phosphorylation in
- invasion by
- migration
- organization
- proliferation
- differentiation
- function
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- apicolateral membrane
- intermediate filament cytoskeleton
- cytoskeleton
- cell borders
- cell periphery
- basal compartment
- Mitochondria
- intercellular junctions
- hemidesmosomes
- perinucleolar compartments
- keratin intermediate filaments
- tight junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EPPK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of keratinocyte proliferation
- negative regulation of wound healing
- wound healing
- intermediate filament bundle assembly
- negative regulation of epithelial cell proliferation
- intermediate filament organization
- negative regulation of keratinocyte migration
- negative regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- apicolateral plasma membrane
- intermediate filament
- cell projection
- tight junction
- keratin filament
- cytoskeleton
- intermediate filament cytoskeleton
- cytoplasm
- membrane
- cell junction
- hemidesmosome
- basolateral plasma membrane
- cell periphery
Molecular Function
What the gene product does at the molecular level
- RNA binding
- structural molecule activity
- intermediate filament binding