SLC12A1
Domain
The RFXV motif mediates binding with OXSR1/OSR1 and STK39/SPAK.
Function
Renal sodium, potassium and chloride ion cotransporter that mediates the transepithelial NaCl reabsorption in the thick ascending limb and plays an essential role in the urinary concentration and volume regulation (PubMed:21321328). Electrically silent transporter system (By similarity).
Involvement in disease
Bartter syndrome 1, antenatal
BARTS1
A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS1 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated at Ser-91, Thr-100 and Thr-105 by OXSR1/OSR1 and STK39/SPAK downstream of WNK kinases (WNK1, WNK2, WNK3 or WNK4), promoting its activity.
Sequence Similarities
Belongs to the SLC12A transporter family.
Tissue Specificity
Kidney; localizes to the thick ascending limbs (at protein level).
Cellular localization
- Apical cell membrane
- Multi-pass membrane protein
Alternative names
NKCC2, SLC12A1, Solute carrier family 12 member 1, Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1, Kidney-specific Na-K-Cl symporter, Na-K-2Cl cotransporter 2, BSC1