SLC25A15 Gene Summary [Human]
This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009]
Details
| Type | Processed Transcript |
| Official Symbol | SLC25A15 |
| Official Name | solute carrier family 25 member 15 [Source:HGNC Symbol;Acc:HGNC:10985] |
| Ensembl ID | ENSG00000102743 |
| Bio databases IDs | |
| Aliases | solute carrier family 25 member 15, ornithine transporter 1, ornithine carrier 1 |
| Synonyms | Ab1-114, D13S327, D630044L02Rik, HHH, LNC-HC, ORC1, ORNT1, solute carrier family 25 member 15, solute carrier family 25 (mitochondrial carrier ornithine transporter), member 15 |
| 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 SLC25A15 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- organic cation transporter
- lysine transporter
- ornithine transporter
- Mitochondrial carrier protein
- transmembrane domain
- antiporter
- L-amino acid transporter
- basic amino acid transporter
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- arrhythmia
- hereditary breast and/or ovarian cancer
regulates
- L-lysine
- L-serine
- citrulline
- L-ornithine
- arginine
- L-arginine
role in cell
- proliferation
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
- cellular membrane
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC25A15 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- urea cycle
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- membrane
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- L-ornithine transmembrane transporter activity
- L-lysine transmembrane transporter activity
- antiporter activity