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ROMK

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Identifiers
SymbolsKCNJ1 ; KIR1.1; ROMK; ROMK1
External IDsOMIM600359 MGI1927248 HomoloGene56764 IUPHAR: 429 ChEMBL: 1293292 GeneCards: KCNJ1 Gene
Orthologs
SpeciesHumanMouse
Entrez375856379
EnsemblENSG00000151704ENSMUSG00000041248
UniProtP48048O88335
RefSeq (mRNA)NM_000220NM_001168354
RefSeq (protein)NP_000211NP_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

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 inhibited 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

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

  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. PMID 7680431. doi:10.1038/362031a0. 
  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. PMID 16382105. doi:10.1124/pr.57.4.11. 
  4. ^ a b c "Entrez Gene: potassium inwardly-rectifying channel". 
  5. ^ "Mitochondrial ROMK channel is a molecular component of mitoK(ATP)". 

Further reading

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External links

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



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