UCP3 (Uncoupling Protein 3) Gene
Mitochondrial uncoupling protein involved in energy metabolism and thermogenesis
Gene Information Card
| Symbol | UCP3 |
|---|---|
| Full Name | Uncoupling Protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 7352 ncbi.nlm.nih.gov/gene/7352 |
| Ensembl ID | ENSG00000175567 |
| UniProt ID | P55916 |
| OMIM ID | 602044 |
| HGNC ID | 12519 |
| Aliases | SLC25A9, UCP-3 |
Description
UCP3 encodes a member of the uncoupling protein family, a mitochondrial transporter protein that creates proton leaks across the inner mitochondrial membrane, uncoupling oxidative phosphorylation from ATP synthesis. UCP3 is primarily expressed in skeletal muscle and brown adipose tissue, and is involved in thermogenesis, regulation of reactive oxygen species, and fatty acid metabolism. Variants in UCP3 have been associated with obesity, type 2 diabetes, and metabolic rate.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | UCP3 polymorphisms may alter energy expenditure and fat oxidation, contributing to obesity risk. | PMID: 10644415, 10837292 |
| Type 2 Diabetes | Reduced UCP3 expression in skeletal muscle is linked to insulin resistance and impaired glucose metabolism. | PMID: 11581296, 12429860 |
| Hyperinsulinemia | UCP3 variants associated with higher fasting insulin levels and metabolic syndrome traits. | PMID: 11739393 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 13.2 | High |
| Heart | 4.8 | Medium |
| Brown Adipose Tissue | 8.1 | High |
| Liver | 0.3 | Low |
| Pancreas | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal Muscle Myocytes | 15.0 | Primary cell type |
| Cardiomyocytes | 5.2 | Derived from heart tissue |
| Adipocytes (brown) | 9.8 | Brown fat lineage |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1800849 | SNP (C>T) | 0.22 (global) | Associated with reduced UCP3 mRNA expression and increased BMI |
| rs15763 | SNP (G>A) | 0.15 (European) | Linked to altered lipid oxidation and insulin sensitivity |
| c.−55C>T | Promoter variant | 0.18 (global) | Decreased promoter activity, associated with obesity |
Mutation functional classification
Loss of Function (LOF)
rs1800849 reduces UCP3 expression, impairing mitochondrial uncoupling and energy expenditure.
Gain of Function (GOF)
No well-characterized gain-of-function variants reported.
Dominant Negative (DN)
Not described for UCP3.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Thermogenesis (Reactome: R-HSA-163685)
• Uncoupling proteins (KEGG: hsa04932)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
UCP3 is a 312-amino acid mitochondrial inner membrane protein with six transmembrane domains. It facilitates proton leak across the inner mitochondrial membrane, reducing the proton motive force and dissipating energy as heat. UCP3 is highly expressed in skeletal muscle and brown adipose tissue, where it regulates energy metabolism, protects against oxidative stress by reducing mitochondrial membrane potential, and modulates fatty acid transport. Its activity is regulated by fatty acids, nucleotides, and thyroid hormone.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UCP3 Knockout HEK293 Cell Line | EDJ-KQ5995 | Human | 7352 | Details Get a Quote |
| UCP3 Knockout A-549 Cell Line | EDJ-KQ29587 | Human | 7352 | Details Get a Quote |
| UCP3 Knockout HCT 116 Cell Line | EDJ-KQ29588 | Human | 7352 | Details Get a Quote |
| UCP3 Knockout HeLa Cell Line | EDJ-KQ29589 | Human | 7352 | Details Get a Quote |
