SLC25A1 Gene Summary [Human]
This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Details
| Type | Protein Coding |
| Official Symbol | SLC25A1 |
| Official Name | solute carrier family 25 member 1 [Source:HGNC Symbol;Acc:HGNC:10979] |
| Ensembl ID | ENSG00000100075 |
| Bio databases IDs | |
| Aliases | solute carrier family 25 member 1 |
| Synonyms | 1300019P08Rik, 2610100G11Rik, AI194714, CIC, Citrate transport, CMS23, CTP, D2L2AD, Dgsj, MCTP, SEA, SLC20A3, solute carrier family 25 member 1, solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1, Tcc, Tricarboxylate carrier (mitochondrial), Tricarboxylate transport |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC25A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Mitochondrial carrier protein
- tricarboxylic acid transporter
- tricarboxylate carrier
- transporter
- citrate transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- colorectal cancer
- Huntington disease
- organismal death
- presynaptic congenital myasthenic syndrome type 23
- COVID-19
- lung adenocarcinoma formation
- tumorigenesis
- EGFR mutation positive adenocarcinoma of the lung
- EGFR mutation positive non-small cell lung cancer
role in cell
- expression in
- apoptosis
- proliferation
- colony formation
- hypermotility
- accumulation in
- synthesis in
- oxidative phosphorylation in
- acetylation in
- transport in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- Mitochondria
- mitochondrial membrane
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC25A1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- fatty-acyl-CoA biosynthetic process
- gluconeogenesis
- mitochondrial citrate transport
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- citrate transmembrane transporter activity
- antiporter activity
- tricarboxylic acid transmembrane transporter activity
- citrate secondary active transmembrane transporter activity