SLC25A10 (Solute Carrier Family 25 Member 10)
Mitochondrial Dicarboxylate Carrier
Gene Information Card
| Symbol | SLC25A10 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 1468 ncbi.nlm.nih.gov/gene/1468 |
| Ensembl ID | ENSG00000183048 |
| UniProt ID | Q9UBX3 |
| OMIM ID | 606794 |
| HGNC ID | 10985 |
| Aliases | DIC, SLC25A10, mitochondrial dicarboxylate carrier |
Description
SLC25A10 encodes the mitochondrial dicarboxylate carrier (DIC), a nuclear-encoded transporter located in the inner mitochondrial membrane. It catalyzes the exchange of dicarboxylates (e.g., malate, succinate) for inorganic phosphate or other dicarboxylates, playing a key role in the tricarboxylic acid (TCA) cycle, gluconeogenesis, and urea metabolism. The gene is essential for mitochondrial substrate transport and metabolic homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Metabolic disorders (e.g., hyperinsulinemic hypoglycemia) | Impaired mitochondrial dicarboxylate transport disrupts TCA cycle and gluconeogenesis | ClinVar, OMIM |
| Cancer (e.g., colorectal, breast) | Altered SLC25A10 expression affects mitochondrial metabolism and apoptosis | COSMIC, PubMed |
| Neurological conditions | Mitochondrial dysfunction due to SLC25A10 variants may contribute to neurodegeneration | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 10.2 | High |
| Heart | 8.9 | Medium |
| Brain | 6.3 | Medium |
| Skeletal Muscle | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | High expression in liver cancer cell line |
| HEK293 | 9.5 | Moderate expression |
| HeLa | 7.8 | Moderate expression |
| MCF7 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.650C>T (p.Pro217Leu) | Missense | <0.01% | Unknown; predicted damaging |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of function |
| c.832G>A (p.Gly278Arg) | Missense | <0.01% | Unknown; predicted damaging |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss variants that impair protein expression or transport activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • antiporter activity (GO:0015297) | • malate transmembrane transport (GO:0015743) |
| • succinate transmembrane transport (GO:0015741) | • mitochondrion (GO:0005739) |
| • integral component of membrane (GO:0016021) |
Pathways
• Mitochondrial dicarboxylate transport (Reactome: R-HSA-70268)
• TCA cycle and metabolism (KEGG: hsa00020)
• Gluconeogenesis (KEGG: hsa00010)
Protein Summary
The SLC25A10 protein (mitochondrial dicarboxylate carrier, DIC) is a 287-amino acid transmembrane protein with six alpha-helical domains. It functions as a homodimer to exchange dicarboxylates (malate, succinate, oxaloacetate) for phosphate or other dicarboxylates across the inner mitochondrial membrane. This transport is critical for the malate-aspartate shuttle, gluconeogenesis, and urea cycle. UniProt ID: Q9UBX3.
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