PPARA Gene (Peroxisome Proliferator Activated Receptor Alpha)
A nuclear receptor regulating lipid metabolism, inflammation, and metabolic disorders.
Gene Information Card
| Symbol | PPARA |
|---|---|
| Full Name | Peroxisome Proliferator Activated Receptor Alpha |
| Gene Type | protein coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 5465 ncbi.nlm.nih.gov/gene/5465 |
| Ensembl ID | ENSG00000186951 |
| UniProt ID | Q07869 |
| OMIM ID | 170998 |
| HGNC ID | 9232 |
| Aliases | NR1C1, PPAR, hPPAR, PPARalpha |
Description
PPARA encodes peroxisome proliferator-activated receptor alpha, a nuclear receptor that regulates genes involved in fatty acid oxidation, lipid metabolism, and inflammation. It is activated by fatty acids and fibrate drugs, and plays a central role in metabolic homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metabolic syndrome | PPARA variants affect lipid metabolism and insulin sensitivity, contributing to dyslipidemia and obesity. | ClinVar, OMIM |
| Non-alcoholic fatty liver disease (NAFLD) | Reduced PPARA activity impairs hepatic fatty acid oxidation, promoting steatosis. | ClinVar, PubMed |
| Hepatocellular carcinoma | Somatic mutations and altered expression of PPARA are found in liver cancer, affecting cell proliferation. | COSMIC, PubMed |
| Cardiovascular disease | PPARA regulates lipid metabolism; variants influence cholesterol levels and atherosclerosis risk. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 10.2 | High |
| Kidney | 8.5 | Medium |
| Heart | 6.1 | Medium |
| Skeletal Muscle | 4.3 | Low |
| Adipose Tissue | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.5 | Liver cancer cell line, high expression |
| A549 | 7.2 | Lung carcinoma, moderate expression |
| MCF7 | 2.1 | Breast cancer, low expression |
| K562 | 1.0 | Leukemia, very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Val227Ala | Missense | 1-2% in certain populations | Altered ligand binding, associated with metabolic traits |
| p.Leu162Val | Missense | Rare | Increased transcriptional activity, linked to obesity |
| c.484C>T | Synonymous | Unknown | No known functional effect |
| p.Arg131Gln | Missense | Rare | Impaired DNA binding, reduced function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations reduce PPARA activity, impairing fatty acid oxidation and promoting lipid accumulation, contributing to metabolic disorders.
Gain of Function (GOF)
Gain-of-function mutations enhance PPARA activity, potentially increasing lipid catabolism but also linked to hepatocarcinogenesis in some models.
Dominant Negative (DN)
Dominant-negative mutations are rare; they may interfere with wild-type PPARA function, leading to dominant effects on target gene expression.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • ligand-activated transcription factor activity |
| • lipid binding | • nuclear receptor activity |
| • regulation of lipid metabolic process | • fatty acid oxidation |
| • inflammatory response |
Pathways
• PPAR signaling pathway
• Fatty acid metabolism
• Adipocytokine signaling pathway
• AMPK signaling pathway
• Regulation of lipolysis in adipocytes
Protein Summary
PPARA is a 468-amino acid nuclear receptor that forms heterodimers with RXR. Upon ligand binding, it translocates to the nucleus and regulates transcription of genes involved in fatty acid uptake, beta-oxidation, and inflammation. It is a major drug target for fibrates used to treat dyslipidemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPARA Knockout HEK293 Cell Line | EDJ-KQ1808 | Human | 5465 | Details Get a Quote |
| PPARA Knockout HCT 116 Cell Line | EDJ-KQ18222 | Human | 5465 | Details Get a Quote |
| PPARA Knockout A-549 Cell Line | EDJ-KQ21656 | Human | 5465 | Details Get a Quote |
| PPARA Knockout HeLa Cell Line | EDJ-KQ21657 | Human | 5465 | Details Get a Quote |
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