PLIN1 Gene: Perilipin 1 in Lipid Droplet Regulation and Metabolic Disease
Explore the PLIN1 gene, its protein product perilipin-1, associated diseases, expression patterns, mutations, and functional roles in lipid metabolism.
Gene Information Card
| Symbol | PLIN1 |
|---|---|
| Full Name | Perilipin 1 |
| Gene Type | protein coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 5346 ncbi.nlm.nih.gov/gene/5346 |
| Ensembl ID | ENSG00000166819 |
| UniProt ID | Q60240 |
| OMIM ID | 170290 |
| HGNC ID | 9076 |
| Aliases | PERI, PLIN, lipid droplet-associated protein |
Description
The PLIN1 gene encodes perilipin-1, a protein that coats lipid droplets in adipocytes. It plays a critical role in regulating lipolysis by controlling access of lipases to stored triglycerides. Phosphorylation of perilipin-1 by protein kinase A (PKA) in response to β-adrenergic stimulation triggers lipolysis, while in the basal state it protects lipid droplets from lipase action. Mutations in PLIN1 are associated with partial lipodystrophy and metabolic disturbances.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Partial lipodystrophy, acquired (APL) | Loss-of-function mutations in PLIN1 disrupt lipid droplet protection, leading to uncontrolled lipolysis and fat loss. | ClinVar, OMIM |
| Metabolic syndrome | PLIN1 variants may contribute to insulin resistance and dyslipidemia through altered lipid storage. | ClinVar, literature |
| Obesity | Polymorphisms in PLIN1 have been associated with body weight regulation and fat distribution. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | High | High |
| Mammary gland | Low | Low |
| Liver | Not detected | Not detected |
| Skeletal muscle | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Adipocytes (differentiated) | High | Key cell type for PLIN1 expression |
| 3T3-L1 (pre-adipocyte) | Low | Expression increases upon differentiation |
| HeLa | Not detected | Non-adipocyte cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1214A>G (p.Tyr405Cys) | Missense | Rare | Impairs phosphorylation, leading to reduced lipolysis and lipid accumulation |
| c.1338_1340del (p.Leu446del) | In-frame deletion | Rare | Disrupts lipid droplet targeting, causing lipodystrophy |
| c.59C>T (p.Pro20Leu) | Missense | Low frequency | Alters protein stability, associated with metabolic syndrome |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair perilipin-1's ability to protect lipid droplets or respond to PKA signaling lead to uncontrolled lipolysis and lipodystrophy.
Gain of Function (GOF)
No clear gain-of-function mutations reported; most pathogenic variants are loss-of-function.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with normal perilipin-1 function on lipid droplets.
View complete mutation data：
Gene Ontology (GO)
| • lipid droplet organization | • negative regulation of lipase activity |
| • positive regulation of lipase activity | • response to cAMP |
| • lipid storage | • protein kinase A signaling |
Pathways
• cAMP-PKA signaling pathway
• Lipolysis in adipocytes
• Regulation of lipid metabolism
Protein Summary
Perilipin-1 is a 522-amino acid protein that localizes to the surface of lipid droplets in adipocytes. It serves as a scaffold for lipases and regulatory proteins. In the basal state, it acts as a barrier preventing lipase access. Upon β-adrenergic stimulation, PKA phosphorylates perilipin-1, causing conformational changes that allow hormone-sensitive lipase (HSL) to access the lipid droplet and initiate lipolysis. Perilipin-1 also interacts with CGI-58, a co-activator of adipose triglyceride lipase (ATGL). Mutations in PLIN1 can lead to metabolic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLIN1 Knockout HEK293 Cell Line | EDJ-KQ865 | Human | 5346 | Details Get a Quote |
| PLIN1 Knockout HeLa Cell Line | EDJ-KQ54156 | Human | 5346 | Details Get a Quote |
| PLIN1 Knockout A-549 Cell Line | EDJ-KQ62651 | Human | 5346 | Details Get a Quote |
| PLIN1 Knockout HCT 116 Cell Line | EDJ-KQ71119 | Human | 5346 | Details Get a Quote |
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