SLC25A14 (UCP5) - Solute Carrier Family 25 Member 14
Mitochondrial uncoupling protein 5; role in thermogenesis, oxidative stress, and neurological disorders
Gene Information Card
| Symbol | SLC25A14 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 14 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq24 |
| NCBI Gene ID | 9016 ncbi.nlm.nih.gov/gene/9016 |
| Ensembl ID | ENSG00000102172 |
| UniProt ID | O95258 |
| OMIM ID | 300242 |
| HGNC ID | 10984 |
| Aliases | UCP5, BMCP1, MGC10500 |
Description
SLC25A14 encodes uncoupling protein 5 (UCP5), a mitochondrial inner membrane carrier that dissipates the proton gradient, uncoupling oxidative phosphorylation from ATP synthesis. UCP5 is involved in thermogenesis, regulation of reactive oxygen species (ROS), and mitochondrial calcium homeostasis. It is highly expressed in brain, testis, and kidney, and has been implicated in neuroprotection, aging, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Altered UCP5 expression may affect mitochondrial ROS production and neuronal survival | PMID: 19013204; ClinVar |
| Obesity / metabolic syndrome | UCP5 uncoupling activity influences energy expenditure and lipid metabolism | PMID: 15629174; OMIM 300242 |
| Ischemic stroke | UCP5 upregulation in response to oxidative stress may protect against reperfusion injury | PMID: 16959955 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Kidney | 6.1 | Low |
| Heart | 3.2 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in neurodegeneration studies |
| HEK293 (embryonic kidney) | 7.8 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
| MCF7 (breast cancer) | 1.0 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.307C>T (p.Arg103Cys) | Missense | <0.01% (gnomAD) | Potential loss of uncoupling activity; associated with altered ROS handling |
| c.545G>A (p.Arg182His) | Missense | <0.01% (gnomAD) | Unknown functional impact; rare variant |
| c.784_786del (p.Lys262del) | In-frame deletion | <0.001% (COSMIC) | Reported in cancer samples; effect on protein function not characterized |
Mutation functional classification
Loss of Function (LOF)
p.Arg103Cys may reduce proton leak activity, increasing mitochondrial membrane potential and ROS production.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in SLC25A14.
Dominant Negative (DN)
No evidence for dominant-negative effects; SLC25A14 functions as a monomer.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • integral component of membrane (GO:0016021) |
| • uncoupling protein activity (GO:0015187) | • protein transmembrane transporter activity (GO:0015450) |
| • oxidation-reduction process (GO:0055114) | • apoptotic process (GO:0006915) |
| • aging (GO:0007568) |
Pathways
• Uncoupling proteins (UCPs) - thermogenesis
• Mitochondrial proton leak
• Reactive oxygen species (ROS) metabolism
• Oxidative phosphorylation
Protein Summary
Uncoupling protein 5 (UCP5) is a 325-amino-acid mitochondrial inner membrane protein with six transmembrane domains. It mediates proton leak across the inner mitochondrial membrane, reducing the proton motive force and thereby decreasing ATP synthesis while increasing heat production. UCP5 is involved in regulating mitochondrial membrane potential, ROS production, and calcium uptake. It is predominantly expressed in brain, testis, and kidney, and its expression is induced by oxidative stress and cold exposure. UCP5 has been implicated in neuroprotection, metabolic regulation, and aging.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A14 Knockout HEK293 Cell Line | EDJ-KQ6430 | Human | 9016 | Details Get a Quote |
| SLC25A14 Knockout A-549 Cell Line | EDJ-KQ29160 | Human | 9016 | Details Get a Quote |
| SLC25A14 Knockout HCT 116 Cell Line | EDJ-KQ30490 | Human | 9016 | Details Get a Quote |
| SLC25A14 Knockout HeLa Cell Line | EDJ-KQ30491 | Human | 9016 | Details Get a Quote |
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