PLIN5: Perilipin-5, a Key Regulator of Lipid Droplet Metabolism
Comprehensive gene card for PLIN5, including expression, mutations, and associated diseases.
Gene Information Card
| Symbol | PLIN5 |
|---|---|
| Full Name | Perilipin 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 440503 ncbi.nlm.nih.gov/gene/440503 |
| Ensembl ID | ENSG00000167588 |
| UniProt ID | Q00G26 |
| OMIM ID | 613248 |
| HGNC ID | 33876 |
| Aliases | LSDP5, MLDP, OXPAT |
Description
PLIN5 encodes perilipin-5, a lipid droplet-associated protein predominantly expressed in oxidative tissues such as heart, skeletal muscle, and liver. It regulates lipid droplet formation, lipolysis, and fatty acid oxidation, protecting cells from lipotoxicity. PLIN5 is critical for metabolic homeostasis and is implicated in steatosis, cardiomyopathy, and insulin resistance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-alcoholic fatty liver disease (NAFLD) | PLIN5 deficiency impairs lipid droplet coating, leading to increased lipolysis and hepatic steatosis. | PMID: 22958918 |
| Cardiomyopathy | Altered PLIN5 expression disrupts cardiac lipid metabolism, contributing to lipotoxic cardiomyopathy. | PMID: 22958918 |
| Insulin resistance | Dysregulation of PLIN5 in skeletal muscle affects fatty acid oxidation and insulin sensitivity. | PMID: 22958918 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal muscle | 15.2 | High |
| Liver | 8.1 | Medium |
| Adipose tissue | 2.3 | Low |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.4 | Hepatocellular carcinoma cell line |
| C2C12 | 18.7 | Mouse myoblast cell line |
| HL-1 | 22.1 | Cardiomyocyte cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.361C>T (p.Arg121Trp) | Missense | <0.01% | Unknown functional impact; rare variant in population databases. |
| c.487G>A (p.Gly163Ser) | Missense | <0.01% | Predicted benign; no disease association reported. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • lipid droplet organization | • negative regulation of lipolysis |
| • fatty acid oxidation | • lipid storage |
Pathways
• Lipid droplet metabolism
• PPAR signaling pathway
Protein Summary
Perilipin-5 (PLIN5) is a 463-amino acid protein that localizes to the surface of lipid droplets. It contains a PAT domain and interacts with lipases and mitochondrial proteins to coordinate lipid storage and utilization. PLIN5 is highly expressed in oxidative tissues and protects against lipotoxicity by sequestering lipids and regulating their mobilization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLIN5 Knockout HEK293 Cell Line | EDJ-KQ2326 | Human | 440503 | Details Get a Quote |
| PLIN5 Knockout HCT 116 Cell Line | EDJ-KQ22721 | Human | 440503 | Details Get a Quote |
| PLIN5 Knockout HeLa Cell Line | EDJ-KQ60391 | Human | 440503 | Details Get a Quote |
| PLIN5 Knockout A-549 Cell Line | EDJ-KQ68859 | Human | 440503 | Details Get a Quote |
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