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KCNJ1 - potassium inwardly-rectifying channel, subfamily J, member 1
Entrez Gene Name: potassium inwardly-rectifying channel, subfamily J, member 1
Synonyms: Kcnj, KCNJ1, KIR1.1, ROMK, ROMK-2, ROMK1

Gene Summary

  • Human (3758): 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]
  • Rat (24521): potassium channel involved in K+ secretion in the renal distal nephron [RGD]

Cell Regulation

Regulates:
  • K+
  • Na+
  • chloride
View all 7 in IPA
Regulated by:
  • phosphatidylinositol 4,5-diphosphate
  • SRC
  • oxophenylarsine
View all 40 in IPA
Binds:
  • phosphatidylinositol 4,5-diphosphate
  • IL16
  • WNK4
View all 7 in IPA
Role in cell:
  • silencing
View all 2 in IPA
Disease:
  • Bartter syndrome, type 2
  • polyuria
  • kaluresis
View all 6 in IPA

Biological Process

excretion, ion transport, potassium ion transport, transport

Cellular Components

integral to membrane, membrane, plasma membrane, voltage-gated potassium channel complex

Literature References

  • 14608358Kahle KT, Wilson FH, Leng Q, Lalioti MD, O'Connell AD, Dong K, Rapson AK, MacGregor GG, Giebisch G, Hebert SC, Lifton RP. WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion.Nat Genet 2003 Dec 01;35(4):372-6
  • 17314327Schmidt C, Höcherl K, Schweda F, Kurtz A, Bucher M. Regulation of renal sodium transporters during severe inflammation.J Am Soc Nephrol 2007 Apr 01;18(4):1072-83
  • 14604981Yoo D, Flagg TP, Olsen O, Raghuram V, Foskett JK, Welling PA. Assembly and Trafficking of a Multiprotein ROMK (Kir 1.1) Channel Complex by PDZ Interactions.J Biol Chem 2004 Feb 20;279(8):6863-73
  • View 197 categorized literature findings and their references in IPA

Molecular Functions

ATP binding, ATP-activated inward rectifier potassium channel activity, inward rectifier potassium channel activity, ion channel activity, nucleotide binding, peptide binding, potassium ion binding, protein binding, voltage-gated ion channel activity

Pathways

No Data Available

Protein Domains

ATP-activated inward rectifier potassium channel, cytoplasmic domain, inward rectifier potassium channel, ion channel, peptide binding, protein binding

Subcellular Locations

apical membrane, cell periphery, cell surface, cellular membrane, endoplasmic reticulum, Golgi apparatus, plasma membrane