Database of mammalian genes
Home

Home Search Browse RAGs User guide FAQs Links Questions Contribute

Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for KCNJ1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID3758
Official gene symbolKCNJ1
Full namepotassium inwardly-rectifying channel, subfamily J, member 1
Aliases,KIR1.1,ROMK,ROMK1,
Gene summaryPotassium 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]
LocationChromosome: 11   Locus: 11q24
Gene position128737268 - 128707915  Map Viewer
Gene orientationminus
Gene size29354 bp
Gene sequence
OMIM ID600359