Slc12a1 - solute carrier family 12, member 1 Gene
Also Known as Nkcc2; mBSC1; urehr3; D630042G03Rik
Species: Mus musculus
Summary
Enables sodium:potassium:chloride symporter activity. Acts upstream of or within several processes, including cellular hyperosmotic salinity response; excretion; and positive regulation of calcineurin-NFAT signaling cascade. 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, Apr 2022]
Slc12a1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001079690.2 | NP_001073158.2 | solute carrier family 12 member 1 isoform F |
| NM_183354.3 | NP_899197.3 | solute carrier family 12 member 1 isoform A |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12386165 | MGI |
| enables sodium:potassium:chloride symporter activity |
IDA
IDA: Inferred from direct assay
|
11790783 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within kidney development |
IMP
IMP: Inferred from mutant phenotype
|
17264314 | MGI |
| acts upstream of or within urea transmembrane transport |
IMP
IMP: Inferred from mutant phenotype
|
17264314 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in apical plasma membrane |
IDA
IDA: Inferred from direct assay
|
11423561 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
solute carrier family 12 member 1 |
|
|