Slc19a3 Gene Summary [Mouse]
Enables thiamine transmembrane transporter activity. Involved in thiamine diphosphate biosynthetic process and thiamine transmembrane transport. Is active in plasma membrane. Used to study biotin-responsive basal ganglia disease. Human ortholog(s) of this gene implicated in biotin-responsive basal ganglia disease. Orthologous to human SLC19A3 (solute carrier family 19 member 3). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Slc19a3 |
| Official Name | solute carrier family 19, member 3 [Source:MGI Symbol;Acc:MGI:1931307] |
| Ensembl ID | ENSMUSG00000038496 |
| Bio databases IDs | |
| Aliases | solute carrier family 19, member 3 |
| Synonyms | A230084E24Rik, BBGD, hTHTR2, solute carrier family 19 member 3, solute carrier family 19, member 3, THMD2, THTR2 |
| Species | Mouse, Mus musculus |
| 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 mouse Slc19a3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- reduced folate carrier
- Major Facilitator Superfamily
- thiamin transporter
- protein binding
- RFC reduced folate carrier
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- epithelial cancer
- idiopathic pulmonary fibrosis
- chronic obstructive pulmonary disease
- hepatocellular carcinoma
- liver cancer
- cachexia
- biotin-responsive basal ganglia disease
- hereditary disorder
- neurodegeneration
regulates
- thiamine
- vitamin
role in cell
- number
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cellular membrane
- apical cell surfaces
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Slc19a3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pyridoxine transport
- thiamine-containing compound metabolic process
- transmembrane transport
- thiamine transmembrane transport
- thiamine transport
- thiamine diphosphate biosynthetic process
Cellular Component
Where in the cell the gene product is active
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- thiamine transmembrane transporter activity
- protein binding