Aliases for KCNJ1 Gene
External Ids for KCNJ1 Gene
Previous GeneCards Identifiers for KCNJ1 Gene
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for KCNJ1 Gene
KCNJ1 (Potassium Inwardly Rectifying Channel Subfamily J Member 1) is a Protein Coding gene. Diseases associated with KCNJ1 include Bartter Syndrome, Type 2, Antenatal and Antenatal Bartter Syndrome. Among its related pathways are Inwardly rectifying K+ channels and Diuretics Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol-4,5-bisphosphate binding and ATP-activated inward rectifier potassium channel activity. An important paralog of this gene is KCNJ10.
UniProtKB/Swiss-Prot Summary for KCNJ1 Gene
In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. 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. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by external barium.
The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong inward-rectifier channels (Kir2.x), the G-protein-activated inward-rectifier channels (Kir3.x) and the ATP-sensitive channels (Kir6.x), which combine with sulphonylurea receptors.