ROMK

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Potassium inwardly-rectifying channel, subfamily J, member 1
Identifiers
Symbols KCNJ1 ; KIR1.1; ROMK; ROMK1
External IDs OMIM600359 MGI1927248 HomoloGene56764 IUPHAR: Kir1.1 ChEMBL: 1293292 GeneCards: KCNJ1 Gene
Orthologs
Species Human Mouse
Entrez 3758 56379
Ensembl ENSG00000151704 ENSMUSG00000041248
UniProt P48048 O88335
RefSeq (mRNA) NM_000220 NM_001168354
RefSeq (protein) NP_000211 NP_001161826
Location (UCSC) Chr 11:
128.71 – 128.74 Mb
Chr 9:
32.37 – 32.4 Mb
PubMed search [1] [2]

The renal outer medullary potassium channel (ROMK) is an ATP-dependent potassium channel (Kir1.1) that transports potassium out of cells. It plays an important role in potassium recycling in the thick ascending limb (TAL) and potassium secretion in the cortical collecting duct (CCD) of the nephron. In humans, ROMK is encoded by the KCNJ1 (potassium inwardly-rectifying channel, subfamily J, member 1) gene.[1][2][3] Multiple transcript variants encoding different isoforms have been found for this gene.[4]

Function[edit]

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 (hence the term "inwardly rectifying"). ROMK was identified as the pore forming component of mitoKATP channels that are known to have a critical role during stroke or other ischemic attacks in the protection against hypoxia-induced brain injury. [4] [5]

Clinical significance[edit]

Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure.[4]

References[edit]

  1. ^ Ho K, Nichols CG, Lederer WJ, Lytton J, Vassilev PM, Kanazirska MV, Hebert SC (March 1993). "Cloning and expression of an inwardly rectifying ATP-regulated potassium channel". Nature 362 (6415): 31–8. doi:10.1038/362031a0. PMID 7680431. 
  2. ^ Yano H, Philipson LH, Kugler JL, Tokuyama Y, Davis EM, Le Beau MM, Nelson DJ, Bell GI, Takeda J (May 1994). "Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA". Mol. Pharmacol. 45 (5): 854–60. PMID 8190102. 
  3. ^ Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA (December 2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacol. Rev. 57 (4): 509–26. doi:10.1124/pr.57.4.11. PMID 16382105. 
  4. ^ a b c "Entrez Gene: potassium inwardly-rectifying channel". 
  5. ^ "Mitochondrial ROMK channel is a molecular component of mitoK(ATP)". 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.