PPHLN1
Periphilin 1: A regulator of epithelial differentiation and potential tumor suppressor
Gene Information Card
| Symbol | PPHLN1 |
|---|---|
| Full Name | Periphilin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q12 |
| NCBI Gene ID | 51535 ncbi.nlm.nih.gov/gene/51535 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8NEY8 |
| OMIM ID | 608891 |
| HGNC ID | 20676 |
| Aliases | CR, FLJ20186, dJ722O3.1 |
Description
PPHLN1 encodes periphilin 1, a protein involved in epithelial differentiation and keratinocyte cornification. It is a component of the cornified envelope and may play a role in terminal differentiation of stratified squamous epithelium. The gene is located on chromosome 12q12 and is expressed in skin, esophagus, and other epithelial tissues. Mutations and altered expression have been associated with certain cancers and skin disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Squamous cell carcinoma | Loss of PPHLN1 expression may disrupt epithelial differentiation, promoting tumorigenesis. | COSMIC; PMID: 23542379 |
| Esophageal cancer | Downregulation of PPHLN1 observed in esophageal squamous cell carcinoma; potential tumor suppressor. | COSMIC; PMID: 23542379 |
| Skin disorders (e.g., psoriasis) | Altered periphilin expression in psoriatic skin suggests involvement in keratinocyte differentiation. | UniProt; PMID: 14660704 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 20.5 | High |
| Esophagus | 15.3 | High |
| Cervix | 10.1 | Medium |
| Vagina | 9.8 | Medium |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 25.0 | High expression; relevant for differentiation studies |
| A431 (epidermoid carcinoma) | 18.5 | Moderate expression |
| HeLa (cervical) | 12.0 | Medium expression |
| NCI-H460 (lung) | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Potential loss of start codon; likely loss of function |
| c.325C>T (p.Arg109Trp) | Missense | <0.1% | Unknown significance; reported in COSMIC |
| c.682G>A (p.Glu228Lys) | Missense | <0.1% | Unknown significance; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Truncating or start-loss mutations likely lead to loss of periphilin function, impairing epithelial differentiation.
Gain of Function (GOF)
No evidence of gain-of-function mutations in PPHLN1.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • keratinocyte differentiation | • cornified envelope |
| • epithelial cell differentiation | • protein binding |
| • structural molecule activity |
Pathways
• Keratinocyte differentiation
• Formation of the cornified envelope
Protein Summary
Periphilin 1 is a 55 kDa protein predominantly expressed in stratified epithelial tissues. It localizes to the cytoplasm and cell periphery, and is incorporated into the cornified envelope during terminal differentiation. The protein contains a conserved domain of unknown function (DUF) and interacts with other envelope components. Its expression is frequently lost in squamous cell carcinomas, suggesting a tumor-suppressive role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPHLN1 Knockout HEK293 Cell Line | EDJ-KQ3550 | Human | 51535 | Details Get a Quote |
| PPHLN1 Knockout HCT 116 Cell Line | EDJ-KQ24029 | Human | 51535 | Details Get a Quote |
| PPHLN1 Knockout A-549 Cell Line | EDJ-KQ25406 | Human | 51535 | Details Get a Quote |
| PPHLN1 Knockout HeLa Cell Line | EDJ-KQ25407 | Human | 51535 | Details Get a Quote |
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