Recombinant Human ATP-sensitive inward rectifier potassium channel 10 (KCNJ10), partial

Function

May be responsible for potassium buffering action of glial cells in the brain (By similarity). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:8995301). Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages (PubMed:8995301). The inward rectification is mainly due to the blockage of outward current by internal magnesium. Can be blocked by extracellular barium and cesium (PubMed:8995301). In the kidney, together with KCNJ16, mediates basolateral K(+) recycling in distal tubules; this process is critical for Na(+) reabsorption at the tubules (PubMed:24561201)

Subcellular Location

Membrane (Multi-pass membrane protein); Basolateral cell membrane

Disease Association

Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance (SESAMES) : A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Expressed in kidney (at protein level) (PubMed:24561201). In the nephron, expressed in the distal convoluted tubule, the connecting tubule, the collecting duct and cortical thick ascending limbs (PubMed:20651251)

Subunit

Homotetramer (By similarity). In kidney cells, it forms heteromeric channels with Kir5.1/KCNJ16; this interaction is required for KCNJ16 localization to the basolateral membrane. Interacts with MAGI1, alone and possibly as a heteromer with KCNJ16; this interaction may facilitate KCNJ10/KCNJ16 potassium channel expression at the basolateral membrane in kidney cells (PubMed:24561201). Interacts with PATJ (By similarity)

• Shuck M.E. et al. Cloning and characterization of two K+ inward rectifier (Kir) 1.1 potassium channel homologs from human kidney (Kir1.2 and Kir1.3). — J. Biol. Chem. (1997)
• Schoots O. et al. Co-expression of human Kir3 subunits can yield channels with different functional properties. — Cell. Signal. (1999)
• Gregory S.G. et al. The DNA sequence and biological annotation of human chromosome 1. — Nature (2006)
• Mural R.J. et al. PubMed: CI-5GBD0VIIJ7C63 (SEP-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Tanemoto M. et al. Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. — FEBS Lett. (2014)
• Bockenhauer D. et al. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. — N. Engl. J. Med. (2009)
• Scholl U.I. et al. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. — Proc. Natl. Acad. Sci. U.S.A. (2009)