| Background: | 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. |
| UniProt Protein Function: | 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. |
| NCBI Summary: | 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] |
| UniProt Code: | P48048 |
| NCBI GenInfo Identifier: | 1352479 |
| NCBI Gene ID: | 3758 |
| NCBI Accession: | P48048.1 |
| UniProt Secondary Accession: | P48048,Q6LD67, B2RMR4, |
| UniProt Related Accession: | P48048 |
| Molecular Weight: | 44,611 Da |
| NCBI Full Name: | ATP-sensitive inward rectifier potassium channel 1 |
| NCBI Synonym Full Names: | potassium voltage-gated channel subfamily J member 1 |
| NCBI Official Symbol: | KCNJ1 |
| NCBI Official Synonym Symbols: | ROMK; ROMK1; KIR1.1 |
| NCBI Protein Information: | ATP-sensitive inward rectifier potassium channel 1 |
| UniProt Protein Name: | ATP-sensitive inward rectifier potassium channel 1 |
| UniProt Synonym Protein Names: | ATP-regulated potassium channel ROM-K; Inward rectifier K(+) channel Kir1.1; Potassium channel, inwardly rectifying subfamily J member 1 |
| Protein Family: | ATP-sensitive inward rectifier potassium channel |
| UniProt Gene Name: | KCNJ1 |
| UniProt Entry Name: | KCNJ1_HUMAN |
