SLC12A1

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]

Description

Solute carrier family 12 member 1

Tissue specificity

Tissue enriched (kidney)

Subcell location

Nucleoplasm, Vesicles

Predicted location

Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

15 (48178438 - 48304078)

Ensembl ID

ENSG00000074803  (ver. 103.38)

Orthologs

Mouse Slc12a1: ENSMUSG00000027202

UniProt

Q13621

neXtProt

NX_Q13621

Human splice variants
Mouse splice variants

Protein structure