Solute carrier family 12 member 1
Also known as: NKCC2, SLC12A1
Function
Renal sodium, potassium and chloride non-electrogenic ion symporter that mediates the transepithelial NaCl reabsorption in the thick ascending limb and plays an essential role in the urinary concentration and volume regulation. It can substitute NH4(+) for K(+), enabling NH4(+) apical transmembrane transport in the medullary thick ascending limb (MTAL). This function is crucial for maintaining ammonium homeostasis by the kidney, particularly during metabolic acidosis (By similarity).
Classification
- Family (Pfam)
- PF00324 AA_permease, PF08403 AA_permease_N, PF03522 SLC12
- InterPro
- AA-permease/SLC12A_dom, AA_permease_N, SLC12_C, Slc12a1, SLC12A1/SLC12A2, SLC12A_fam
- Functional cluster
- Nucleotide & Amino-Acid Biosynthesis Enzymes
Gene Ontology · 16
- GO:0016324 apical plasma membrane
- GO:0070062 extracellular exosome
- GO:0016020 membrane
- GO:0005886 plasma membrane
- GO:7770002 sodium:ammonium:chloride symporter activity
- GO:0008511 sodium:potassium:chloride symporter activity
- GO:0097272 ammonium homeostasis
- GO:0006884 cell volume homeostasis
- GO:0055064 chloride ion homeostasis
- GO:1902476 chloride transmembrane transport
- GO:0034220 monoatomic ion transmembrane transport
- GO:0055075 potassium ion homeostasis
- GO:1990573 potassium ion import across plasma membrane
- GO:0055078 sodium ion homeostasis
- GO:0035725 sodium ion transmembrane transport
- GO:0070634 transepithelial ammonium transport
Disease associations
- Bartter disease type 1 MONDO:0100344
Drugs targeting this protein · 5
- BUMETANIDE inhibitor
- TORSEMIDE inhibitor
- ETHACRYNATE SODIUM inhibitor
- FUROSEMIDE inhibitor
- ETHACRYNIC ACID inhibitor
Related proteins · sequence + function similarity
- Solute carrier family 12 member 1 1.00
- Solute carrier family 12 member 1 0.99
- Solute carrier family 12 member 1 0.99
- Solute carrier family 12 member 2 0.96
- Solute carrier family 12 member 2 0.93
- Solute carrier family 12 member 2 0.92
- Solute carrier family 12 member 2 0.91
- Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 0.79
- Solute carrier family 12 member 3 0.77
- Solute carrier family 12 member 3 0.76
- Solute carrier family 12 member 3 0.75
- Chitin synthase 3 0.68
Co-cited proteins · studied together in the literature
- Solute carrier family 12 member 1 2 shared papers
- Solute carrier family 12 member 3 2 shared papers
- STE20/SPS1-related proline-alanine-rich protein kinase 1 shared papers
- V-type proton ATPase subunit B, kidney isoform 1 shared papers
- V-type proton ATPase subunit G 1 1 shared papers
- Solute carrier family 12 member 7 1 shared papers
- Serine/threonine-protein kinase OSR1 1 shared papers
- Solute carrier family 12 member 2 1 shared papers
- Solute carrier family 12 member 5 1 shared papers
- Serine/threonine-protein kinase WNK1 1 shared papers
- Solute carrier family 12 member 4 1 shared papers
- V-type proton ATPase subunit B, brain isoform 1 shared papers
Literature · 5 cited papers
- H+-ATPase B1 subunit localizes to thick ascending limb and distal convoluted tubule of rodent and human kidney. Am. J. Physiol. · 2018
- Similar Effects of all WNK3 Variants upon SLC12 Cotransporters. Am. J. Physiol. · 2011
- Regulation of the NKCC2 ion cotransporter by SPAK-OSR1-dependent and -independent pathways. J. Cell Sci. · 2011
- Analysis of the DNA sequence and duplication history of human chromosome 15. Nature · 2006
- Bartter's syndrome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat. Genet. · 1996
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