PNPLA1 Gene
Patatin-like phospholipase domain-containing protein 1
Gene Information Card
| Symbol | PNPLA1 |
|---|---|
| Full Name | Patatin-like phospholipase domain-containing protein 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 285848 ncbi.nlm.nih.gov/gene/285848 |
| Ensembl ID | ENSG00000177954 |
| UniProt ID | Q8N6P7 |
| OMIM ID | 612121 |
| HGNC ID | 21246 |
| Aliases | FLJ22341, MGC138290 |
Description
PNPLA1 encodes a patatin-like phospholipase domain-containing protein involved in lipid metabolism, specifically in the synthesis of omega-O-acylceramides essential for skin barrier function. Mutations in this gene cause autosomal recessive congenital ichthyosis (ARCI) type 10, characterized by abnormal skin scaling and barrier defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive congenital ichthyosis 10 (ARCI10) | Loss-of-function mutations in PNPLA1 impair omega-O-acylceramide synthesis, disrupting the epidermal lipid barrier and leading to hyperkeratosis and scaling. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Adipose tissue | 8.2 | Low |
| Lung | 4.1 | Low |
| Testis | 3.8 | Low |
| Esophagus | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Keratinocytes | 15.3 | High expression |
| Fibroblasts | 6.7 | Moderate expression |
| Melanocytes | 4.2 | Low expression |
| HeLa | 2.1 | Low expression |
| HEK293 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; associated with ARCI10 |
| c.742G>A (p.Gly248Arg) | Missense | Rare | Loss of function; disrupts phospholipase activity |
| c.1049T>C (p.Leu350Pro) | Missense | Rare | Loss of function; impairs protein stability |
Mutation functional classification
Loss of Function (LOF)
Most PNPLA1 mutations are loss-of-function, leading to reduced or absent phospholipase activity and defective ceramide synthesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PNPLA1.
Dominant Negative (DN)
No dominant-negative mutations have been described for PNPLA1.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase activity (GO:0004620) | • hydrolase activity (GO:0016787) |
| • lipid metabolic process (GO:0006629) | • endoplasmic reticulum membrane (GO:0005789) |
| • keratinization (GO:0031424) |
Pathways
• Ceramide biosynthesis
• Epidermal differentiation
• Sphingolipid metabolism
Protein Summary
PNPLA1 is a 532-amino acid protein localized to the endoplasmic reticulum membrane. It functions as a phospholipase that catalyzes the formation of omega-O-acylceramides, critical components of the epidermal lipid barrier. The protein contains a patatin-like phospholipase domain and is highly expressed in keratinocytes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNPLA1 Knockout HEK293 Cell Line | EDJ-KQ1972 | Human | 285848 | Details Get a Quote |
| PNPLA1 Knockout HeLa Cell Line | EDJ-KQ59533 | Human | 285848 | Details Get a Quote |
| PNPLA1 Knockout A-549 Cell Line | EDJ-KQ68001 | Human | 285848 | Details Get a Quote |
| PNPLA1 Knockout HCT 116 Cell Line | EDJ-KQ76379 | Human | 285848 | Details Get a Quote |
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