PKP1 Gene - Plakophilin 1
Key component of desmosomes, associated with skin fragility and cardiac disorders
Gene Information Card
| Symbol | PKP1 |
|---|---|
| Full Name | Plakophilin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 5317 ncbi.nlm.nih.gov/gene/5317 |
| Ensembl ID | ENSG00000116251 |
| UniProt ID | Q13835 |
| OMIM ID | 601975 |
| HGNC ID | 9023 |
| Aliases | B6P, PKP1a, PKP1b |
Description
The PKP1 gene encodes plakophilin 1, a member of the armadillo repeat protein family that localizes to desmosomes. Plakophilin 1 is essential for desmosome assembly and stability, particularly in stratified epithelia. It interacts with other desmosomal proteins such as desmoplakin and cadherins, contributing to cell-cell adhesion and tissue integrity. Mutations in PKP1 cause ectodermal dysplasia-skin fragility syndrome and are implicated in arrhythmogenic cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ectodermal dysplasia-skin fragility syndrome | Loss-of-function mutations impair desmosome assembly, leading to skin fragility, palmoplantar keratoderma, and hair/nail abnormalities. | OMIM #604536; ClinVar |
| Arrhythmogenic cardiomyopathy | PKP1 variants may disrupt desmosomal integrity in cardiac tissue, predisposing to arrhythmias and ventricular dysfunction. | ClinVar; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 45.2 | High |
| Esophagus | 38.1 | High |
| Oral mucosa | 42.5 | High |
| Heart | 2.3 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 62.8 | High expression; relevant for skin biology |
| A431 (epidermoid carcinoma) | 55.3 | High expression |
| MCF7 (breast cancer) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2034delC | Frameshift | Rare | Loss of function; associated with skin fragility syndrome |
| c.1132C>T (p.Arg378*) | Nonsense | Rare | Premature stop; loss of function |
| c.1685G>A (p.Arg562Gln) | Missense | Unknown | Potential dominant-negative effect in cardiomyopathy |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.2034delC, p.Arg378*) lead to truncated or absent plakophilin 1, impairing desmosome formation and causing skin fragility.
Gain of Function (GOF)
No gain-of-function mutations reported for PKP1.
Dominant Negative (DN)
Missense variants such as p.Arg562Gln may interfere with desmosomal protein interactions, acting in a dominant-negative manner in cardiac tissue.
View complete mutation data：
Gene Ontology (GO)
| • Desmosome assembly | • Cell-cell adhesion |
| • Intermediate filament binding | • Armadillo repeat domain binding |
| • Protein homodimerization activity |
Pathways
• Desmosome assembly (Reactome: R-HSA-446728)
• Cell-cell junction organization (Reactome: R-HSA-421270)
Protein Summary
Plakophilin 1 is a 726-amino acid armadillo repeat protein that localizes to desmosomes in stratified epithelia. It stabilizes desmosomal plaques by linking cadherins to intermediate filaments. Two isoforms (PKP1a and PKP1b) arise from alternative splicing. The protein is critical for mechanical integrity of skin and heart; loss leads to cell adhesion defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PKP1 Knockout HEK293 Cell Line | EDJ-KQ5472 | Human | 5317 | Details Get a Quote |
| PKP1 Knockout HeLa Cell Line | EDJ-KQ27430 | Human | 5317 | Details Get a Quote |
| PKP1 Knockout A-549 Cell Line | EDJ-KQ62641 | Human | 5317 | Details Get a Quote |
| PKP1 Knockout HCT 116 Cell Line | EDJ-KQ71109 | Human | 5317 | Details Get a Quote |
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