SLC25A13 Gene Summary [Human]
This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Details
| Type | Protein Coding |
| Official Symbol | SLC25A13 |
| Official Name | solute carrier family 25 member 13 [Source:HGNC Symbol;Acc:HGNC:10983] |
| Ensembl ID | ENSG00000004864 |
| Bio databases IDs | |
| Aliases | solute carrier family 25 member 13, mitochondrial aspartate glutamate carrier 2, Calcium-binding mitochondrial carrier protein Aralar2, citrullinemia type II |
| Synonyms | ARALAR2, CITRIN, CTLN2, Ctrn, NICCD, RGD1565889, solute carrier family 25 member 13, solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13 |
| 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 SLC25A13 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- hydrogen ion transporter
- EF-hand domain pair
- Mitochondrial carrier protein
- sulfur amino acid transporter
- L-amino acid transporter
- dicarboxylic acid transporter
- calcium ion binding
- EFh
- protein binding
- acidic amino acid transporter
- identical protein binding
- cation transporter
- neutral amino acid transporter
- glutamate transporter
- antiporter
- C4-dicarboxylate transporter
- amino acid transporter
- transporter
- calcium binding domain
Pathways
Biological processes and signaling networks where the SLC25A13 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic pain
- adult-onset citrullinemia type II
- hereditary disorder
- neonatal type citrullinemia
- gastric adenocarcinoma
- gastric epithelial cancer
- glioma formation
- intrahepatic cholestasis
- citrullinemia
- progressive familial intrahepatic cholestasis type 1
role in cell
- number
- proliferation
- invasion by
- gluconeogenesis in
- respiration
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
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC25A13 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- gluconeogenesis
- malate-aspartate shuttle
- mitochondrial transport
- response to calcium ion
- aspartate family amino acid metabolic process
- neutral amino acid transport
- cellular respiration
- L-glutamate transport
- ATP biosynthetic process
- aspartate transport
- L-aspartate transport
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial inner membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- calcium ion binding
- acidic amino acid transmembrane transporter activity
- L-aspartate transmembrane transporter activity
- L-glutamate transmembrane transporter activity