ROMK

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KCNJ1
Identifiers
Aliases KCNJ1, KIR1.1, ROMK, ROMK1, potassium voltage-gated channel subfamily J member 1
External IDs OMIM: 600359 MGI: 1927248 HomoloGene: 56764 GeneCards: 3758
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_153767
NM_000220
NM_153764
NM_153765
NM_153766

NM_001168354
NM_019659

RefSeq (protein)

NP_000211.1
NP_722448.1
NP_722449.3
NP_722450.1
NP_722451.1

NP_062633.1

Location (UCSC) Chr 11: 128.84 – 128.87 Mb Chr 9: 32.37 – 32.4 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[3][4][5] Multiple transcript variants encoding different isoforms have been found for this gene.[6]

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 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.[6][7]

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.[6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ a b c "Entrez Gene: potassium inwardly-rectifying channel". 
  7. ^ Foster, DB; Ho, AS; Rucker, J; Garlid, AO; Chen, L; Sidor, A; Garlid, KD; O'Rourke, B (3 August 2012). "Mitochondrial ROMK channel is a molecular component of mitoK(ATP).". Circulation Research. 111 (4): 446–54. doi:10.1161/circresaha.112.266445. PMC 3560389free to read. PMID 22811560. 

Further reading[edit]

  • Welling, P. A.; Ho, K. (20 May 2009). "A comprehensive guide to the ROMK potassium channel: form and function in health and disease". AJP: Renal Physiology. 297 (4): F849–F863. doi:10.1152/ajprenal.00181.2009. 

External links[edit]

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