Slc12a1 Gene Summary [Mouse]
Enables sodium:potassium:chloride symporter activity. Acts upstream of or within kidney development and urea transmembrane transport. Located in apical plasma membrane. Is expressed in several structures, including alimentary system and urinary system. Used to study Bartter disease type 1. Human ortholog(s) of this gene implicated in Bartter disease and Bartter disease type 1. Orthologous to human SLC12A1 (solute carrier family 12 member 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Slc12a1 |
| Official Name | solute carrier family 12, member 1 [Source:MGI Symbol;Acc:MGI:103150] |
| Ensembl ID | ENSMUSG00000027202 |
| Bio databases IDs | |
| Aliases | solute carrier family 12, member 1 |
| Synonyms | AI788571, BSC, BSC-1, CCC2, D630042G03Rik, mBSC1, mNKCC2, Na+/k+/2cl- symporter, NKCC2, solute carrier family 12 member 1, solute carrier family 12, member 1, urehr3 |
| 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 Slc12a1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- sodium:chloride/potassium:chloride symporter
- Amino acid permease N-terminal
- amino acid permease
- protein binding
- transporter
- Solute carrier family 12
- K-Cl cotransporter
Pathways
Biological processes and signaling networks where the Slc12a1 gene in mouse 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.
binds
- miR-21-5p (and other miRNAs w/seed AGCUUAU)
- ENaC
- OS9
- chlorthalidone
- ethacrynic acid
- furosemide
- bumetanide
- torsemide
- quinethazone
- methyclothiazide
disease
- infection
- hypertension
- Bartter syndrome type 1
- kidney disease
- edema
- heart failure
- autism
- vascular disease
- chronic kidney disease
- essential hypertension
regulates
- Ca2+
- creatinine
- D-glucose
- renin
- rubidium
- inorganic salt
- ammonium
- MUP
- bicarbonate
- Na+
role in cell
- downregulation in
- recruitment
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
- cell surface
- cellular membrane
- apical cell surfaces
- apical membrane
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Slc12a1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ion transport
- potassium ion homeostasis
- chloride ion homeostasis
- ion transmembrane transport
- sodium ion homeostasis
- sodium ion transmembrane transport
- cell volume homeostasis
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- membrane
- apical plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- sodium:potassium:chloride symporter activity