PLIN3: Perilipin-3 and Its Role in Lipid Droplet Metabolism
Comprehensive genomic and proteomic analysis of PLIN3, a key regulator of lipid storage and transport.
Gene Information Card
| Symbol | PLIN3 |
|---|---|
| Full Name | Perilipin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 10226 ncbi.nlm.nih.gov/gene/10226 |
| Ensembl ID | ENSG00000105355 |
| UniProt ID | O60664 |
| OMIM ID | 611099 |
| HGNC ID | 24876 |
| Aliases | M6PRBP1, TIP47, PP17 |
Description
PLIN3 (Perilipin 3) encodes a member of the perilipin family of proteins that coat lipid droplets. It is involved in the formation and stabilization of lipid droplets, facilitating intracellular lipid storage and transport. PLIN3 is ubiquitously expressed and plays a role in lipid metabolism, adipocyte differentiation, and cellular responses to metabolic stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | PLIN3 expression is altered in adipose tissue, affecting lipid storage capacity and metabolic homeostasis. | PMID: 21817107 |
| Non-alcoholic fatty liver disease (NAFLD) | PLIN3 is upregulated in hepatocytes, promoting lipid droplet accumulation and steatosis. | PMID: 25615935 |
| Breast cancer | PLIN3 overexpression is associated with poor prognosis, potentially via enhanced lipid storage and cell survival. | PMID: 29367609 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 45.2 | High |
| Liver | 32.8 | Medium |
| Heart | 28.1 | Medium |
| Skeletal muscle | 22.5 | Medium |
| Brain | 15.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 38.7 | Hepatocellular carcinoma cell line |
| 3T3-L1 | 52.1 | Adipocyte precursor cell line |
| MCF-7 | 41.5 | Breast cancer cell line |
| HeLa | 29.4 | Cervical cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.001% (gnomAD) | Unknown functional impact |
| c.452G>A (p.Arg151Gln) | Missense | 0.002% (gnomAD) | Potential loss of lipid droplet binding |
| c.784_786del (p.Lys262del) | In-frame deletion | <0.001% | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg151Gln) may impair lipid droplet targeting and reduce lipid storage capacity.
Gain of Function (GOF)
Not well characterized; overexpression in cancer cells suggests potential gain-of-function in lipid accumulation.
Dominant Negative (DN)
No dominant-negative mutations reported in PLIN3.
View complete mutation data：
Gene Ontology (GO)
| • lipid droplet organization | • lipid storage |
| • protein targeting to lipid droplet | • cellular response to fatty acid |
| • negative regulation of lipolysis |
Pathways
• Lipid droplet metabolism
• PPAR signaling pathway
• Adipogenesis
Protein Summary
Perilipin-3 (PLIN3) is a 47 kDa protein that localizes to the surface of lipid droplets. It contains an N-terminal PAT domain and a C-terminal hydrophobic region that mediates lipid droplet binding. PLIN3 interacts with other perilipins and lipases to regulate lipid droplet dynamics, protecting droplets from lipolysis under basal conditions and facilitating lipid release upon hormonal stimulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLIN3 Knockout HEK293 Cell Line | EDJ-KQ6327 | Human | 10226 | Details Get a Quote |
| PLIN3 Knockout A-549 Cell Line | EDJ-KQ31637 | Human | 10226 | Details Get a Quote |
| PLIN3 Knockout HCT 116 Cell Line | EDJ-KQ31639 | Human | 10226 | Details Get a Quote |
| PLIN3 Knockout HeLa Cell Line | EDJ-KQ31640 | Human | 10226 | Details Get a Quote |
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