PPL (Periplakin) Gene
Structural Component of Desmosomes and Intermediate Filament Binding
Gene Information Card
| Symbol | PPL |
|---|---|
| Full Name | Periplakin |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 5493 ncbi.nlm.nih.gov/gene/5493 |
| Ensembl ID | ENSG00000118898 |
| UniProt ID | O60437 |
| OMIM ID | 602871 |
| HGNC ID | 9273 |
| Aliases | KIAA0568, 230 kDa bullous pemphigoid antigen |
Description
The PPL gene encodes periplakin, a component of desmosomes and the cornified envelope of stratified squamous epithelia. Periplakin binds intermediate filaments and contributes to cell-cell adhesion and epithelial integrity. It is involved in skin barrier function and has been implicated in cancer and autoimmune blistering diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bullous pemphigoid | Autoantibodies target periplakin, disrupting hemidesmosome adhesion | ClinVar, OMIM |
| Esophageal cancer | Altered PPL expression associated with tumor progression and poor prognosis | COSMIC, NCBI |
| Breast cancer | PPL downregulation linked to metastasis and epithelial-mesenchymal transition | COSMIC, NCBI |
| Lung cancer | Somatic mutations and copy number alterations in PPL reported | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 98.2 | High |
| Esophagus | 85.6 | High |
| Oral mucosa | 72.4 | High |
| Cervix, uterine | 45.1 | Medium |
| Vagina | 40.3 | Medium |
| Breast | 12.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 120.5 | High expression |
| A431 (epidermoid carcinoma) | 95.3 | High expression |
| MCF7 (breast cancer) | 18.2 | Low expression |
| HeLa (cervical cancer) | 22.7 | 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, predicted truncation |
| c.567_568insA (p.Glu190Argfs*5) | Frameshift | <0.01% | Loss of function, predicted truncation |
| c.2101G>A (p.Gly701Ser) | Missense | 0.02% | Unknown significance, rare population variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in PPL are predicted to cause loss of function, potentially compromising desmosome integrity.
Gain of Function (GOF)
No gain-of-function mutations reported for PPL.
Dominant Negative (DN)
No dominant-negative mutations reported for PPL.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • intermediate filament (GO:0005882) |
| • cytoskeleton (GO:0005856) | • desmosome (GO:0030057) |
| • cornified envelope (GO:0001533) | • cell adhesion (GO:0007155) |
Pathways
• Desmosome assembly (Reactome: R-HSA-446353)
• Cell junction organization (Reactome: R-HSA-446728)
• Keratinization (Reactome: R-HSA-6805567)
Protein Summary
Periplakin is a 230 kDa protein localized to desmosomes and the cornified envelope. It contains a plakin domain and a coiled-coil region, mediating interactions with intermediate filaments (e.g., keratins) and other desmosomal proteins (e.g., envoplakin, involucrin). Periplakin is essential for mechanical stability of epithelial tissues and is a target of autoantibodies in bullous pemphigoid.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPL Knockout HEK293 Cell Line | EDJ-KQ5515 | Human | 5493 | Details Get a Quote |
| PPL Knockout A-549 Cell Line | EDJ-KQ28760 | Human | 5493 | Details Get a Quote |
| PPL Knockout HCT 116 Cell Line | EDJ-KQ28761 | Human | 5493 | Details Get a Quote |
| PPL Knockout HeLa Cell Line | EDJ-KQ28762 | Human | 5493 | Details Get a Quote |
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