EPPK1 Gene - Epiplakin 1
A comprehensive guide to EPPK1: gene structure, function, expression, and clinical relevance.
Gene Information Card
| Symbol | EPPK1 |
|---|---|
| Full Name | Epiplakin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q24.3 |
| NCBI Gene ID | 83481 ncbi.nlm.nih.gov/gene/83481 |
| Ensembl ID | ENSG00000164741 |
| UniProt ID | P58107 |
| OMIM ID | 607553 |
| HGNC ID | 15577 |
| Aliases | EPPK, KIAA1865, FLJ20308 |
Description
EPPK1 encodes epiplakin 1, a member of the plakin family of cytolinker proteins. Epiplakin 1 is involved in the organization and stabilization of intermediate filament networks, particularly in epithelial tissues. It is expressed in skin, esophagus, and other stratified epithelia, and plays a role in maintaining cellular integrity under mechanical stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epidermolysis bullosa simplex (EBS) | Mutations in EPPK1 may disrupt intermediate filament attachment, leading to skin fragility. | ClinVar, OMIM |
| Esophageal cancer | Altered EPPK1 expression has been observed in esophageal squamous cell carcinoma, potentially affecting cell adhesion and migration. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 10.2 | Medium |
| Cervix | 8.1 | Low |
| Vagina | 7.4 | Low |
| Breast | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.0 | High expression |
| A431 (epidermoid carcinoma) | 11.3 | Moderate expression |
| KYSE-30 (esophageal carcinoma) | 9.8 | Moderate expression |
| MCF7 (breast cancer) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; associated with skin fragility |
| c.2567A>G (p.Asn856Ser) | Missense | 0.02% | Unknown significance; reported in esophageal cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of epiplakin 1 function, potentially impairing intermediate filament organization.
Gain of Function (GOF)
No gain-of-function mutations have been reported for EPPK1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for EPPK1.
View complete mutation data：
Gene Ontology (GO)
| • intermediate filament binding | • cytoskeletal protein binding |
| • structural molecule activity | • cell-cell junction |
| • hemidesmosome | • intermediate filament cytoskeleton organization |
Pathways
• Intermediate filament organization
• Hemidesmosome assembly
• Cell adhesion (plakin family)
Protein Summary
Epiplakin 1 is a large (over 5000 amino acids) plakin family protein that crosslinks intermediate filaments to each other and to cellular junctions. It is predominantly expressed in stratified epithelia and contributes to tissue resilience. The protein contains multiple plakin repeat domains and a rod domain, enabling it to bundle keratin filaments and anchor them to desmosomes and hemidesmosomes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPPK1 Knockout HEK293 Cell Line | EDJ-KQ51782 | Human | 83481 | Details Get a Quote |
| EPPK1 Knockout HeLa Cell Line | EDJ-KQ57442 | Human | 83481 | Details Get a Quote |
| EPPK1 Knockout A-549 Cell Line | EDJ-KQ65946 | Human | 83481 | Details Get a Quote |
| EPPK1 Knockout HCT 116 Cell Line | EDJ-KQ74370 | Human | 83481 | Details Get a Quote |
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