| Full Name | Perilipin 3 |
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| Chromosomal Location | 19p13.3 |
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| NCBI Gene ID | 10226 |
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| OMIM | 604687 |
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| Ensembl ID | ENSG00000138326 |
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| UniProt | O76014 |
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| Associated Diseases | Parkinson's Disease, Neurodegeneration with Brain Iron Accumulation (NBIA), Lysosomal Storage Disorders |
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PLIN3 (Perilipin 3), also known as TIP47, encodes a lipid droplet-associated protein involved in lipid metabolism and autophagy. Located on chromosome 19p13.3, PLIN3 has been implicated in Parkinson's disease and other neurodegenerative disorders through its role in lipid trafficking and lysosomal function.
The PLIN3 gene encodes perilipin 3, a 425 amino acid protein:
- Lipid droplet function: Regulates lipid droplet formation, trafficking, and lipolysis
- Autophagy regulation: Interfaces between lipid droplets and autophagosomes
- Lysosomal function: Involved in lysosomal lipid metabolism
- Mitochondrial function: Regulates mitochondrial lipid composition and function
- Protein trafficking: Facilitates protein transport between cellular compartments
| Feature |
Details |
| Molecular weight |
~47 kDa |
| Protein class |
Lipid droplet-associated protein (perilipin family) |
| Domains |
PAT domain (1-130 aa), 11-mer repeats |
| Subcellular localization |
Cytoplasmic lipid droplets, endosomes, lysosomes |
- Evidence: PLIN3 variants have been associated with PD risk in genome-wide studies
- Mechanism:
- Impaired lipid droplet function affects neuronal lipid homeostasis
- Disrupted autophagy-lysosome pathway
- Altered alpha-synuclein lipotoxicity handling
- Mitochondrial lipid composition changes
- Therapeutic targeting: Lipid metabolism modulators are being investigated
- Association: PLIN3 is involved in iron metabolism through lipid homeostasis
- Mechanism: Dysregulated lipid metabolism affects iron handling in neurons
- Connection: PLIN3 dysfunction may exacerbate lysosomal storage conditions
- Shared pathways: Autophagy-lysosome pathway impairment
PLIN3 is expressed in:
- Brain: Neurons (especially dopaminergic neurons), glia
- Liver: Hepatocytes
- Adipose tissue: Adipocytes
- Muscle: Skeletal muscle fibers
Expression is regulated by lipid availability and cellular energy status.
- Murphy et al., PLIN3 in lipid metabolism (2021)
- Gandhi et al., PLIN3 and PD risk (2020)
- Koga et al., PLIN3 in autophagy (2019)