SLC25A27 (Solute Carrier Family 25 Member 27)
Mitochondrial uncoupling protein 4 (UCP4) – a key regulator of mitochondrial membrane potential and cellular metabolism
Gene Information Card
| Symbol | SLC25A27 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 27 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p12.3 |
| NCBI Gene ID | 9481 ncbi.nlm.nih.gov/gene/9481 |
| Ensembl ID | ENSG00000153234 |
| UniProt ID | O95847 |
| OMIM ID | 609167 |
| HGNC ID | 10986 |
| Aliases | UCP4, UNQ1881/PRO4325 |
Description
SLC25A27 encodes uncoupling protein 4 (UCP4), a member of the mitochondrial uncoupling protein subfamily. UCP4 is a mitochondrial inner membrane carrier that dissipates the proton gradient, reducing mitochondrial membrane potential and modulating reactive oxygen species production. It is predominantly expressed in the brain and is involved in neuronal differentiation, thermogenesis, and metabolic regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disorders (e.g., Parkinson's disease) | Altered mitochondrial uncoupling may affect neuronal survival and oxidative stress | PMID: 21907142; ClinVar association studies |
| Obesity and metabolic syndrome | UCP4 expression in adipose tissue influences energy expenditure | PMID: 15629174; OMIM 609167 |
| Cancer (e.g., glioblastoma) | UCP4 overexpression linked to mitochondrial dysfunction and tumor progression | COSMIC; PMID: 25620004 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Adipose tissue | 4.2 | Medium |
| Heart | 2.1 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| U-87 MG (glioblastoma) | 8.7 | Cancer cell line |
| HepG2 (hepatocellular carcinoma) | 1.2 | 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% | Reduced uncoupling activity (loss of function) |
| c.584A>G (p.Asn195Ser) | Missense | <0.01% | Unknown functional effect |
| c.742G>A (p.Gly248Arg) | Missense | <0.01% | Potential gain of function (increased proton leak) |
Mutation functional classification
Loss of Function (LOF)
p.Arg103Cys reduces mitochondrial uncoupling, leading to increased ROS and potential neurodegeneration.
Gain of Function (GOF)
p.Gly248Arg may enhance proton leak, altering cellular energy balance.
Dominant Negative (DN)
No dominant-negative mutations reported for SLC25A27.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005739 – mitochondrion | • GO:0016021 – integral component of membrane |
| • GO:0015297 – antiporter activity | • GO:0016830 – uncoupling protein activity |
| • GO:0006810 – transport | • GO:0055114 – oxidation-reduction process |
Pathways
• Uncoupling proteins (UCP) – Reactome R-HSA-166658
• Thermogenesis – KEGG hsa04714
• Oxidative phosphorylation – KEGG hsa00190
Protein Summary
Uncoupling protein 4 (UCP4) is a 323-amino acid mitochondrial inner membrane protein that functions as a proton transporter, dissipating the proton gradient generated by the electron transport chain. This uncoupling reduces mitochondrial membrane potential, decreases ATP synthesis, and lowers reactive oxygen species production. UCP4 is highly expressed in the brain, where it plays a role in neuronal differentiation, synaptic plasticity, and protection against oxidative stress. Its expression is also detected in adipose tissue, heart, and certain cancers, suggesting involvement in energy metabolism and disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A27 Knockout HEK293 Cell Line | EDC08392 | Human | 9481 | Details Get a Quote |
| SLC25A27 Knockout HCT 116 Cell Line | EDJ-KQ30828 | Human | 9481 | Details Get a Quote |
| SLC25A27 Knockout HeLa Cell Line | EDJ-KQ30829 | Human | 9481 | Details Get a Quote |
| SLC25A27 Knockout A-549 Cell Line | EDJ-KQ63657 | Human | 9481 | Details Get a Quote |
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