SLC12A1
Gene Information
- Official Symbol: SLC12A1
- Official Name: solute carrier family 12 member 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 6557
- UniProt: Q13621
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010].
- UniProt Summary: Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 10778
- Expression level (log2 read counts): -0.64
SLC12A1 Expression in NALM6 Cells: -0.64
