KCNJ10

From Wikipedia, the free encyclopedia
Jump to: navigation, search
KCNJ10
Identifiers
Aliases KCNJ10, BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME, potassium voltage-gated channel subfamily J member 10
External IDs MGI: 1194504 HomoloGene: 1689 GeneCards: 3766
RNA expression pattern
PBB GE KCNJ10 206692 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002241

NM_001039484
NM_020269

RefSeq (protein)

NP_002232.2

NP_001034573.1

Location (UCSC) Chr 1: 160.04 – 160.07 Mb Chr 1: 172.34 – 172.37 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

ATP-sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the KCNJ10 gene.[3][4][5][6]

Function[edit]

This gene encodes a member of the inward rectifier-type potassium channel family, Kir4.1, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. Kir4.1, may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes.[6]

EAST syndrome[edit]

Humans with mutations in the KCNJ10 gene that cause loss of function in related K+ channels can display Epilepsy, Ataxia, Sensorineural deafness and Tubulopathy, the EAST syndrome (Gitelman syndrome phenotype) reflecting roles for KCNJ10 gene products in the brain, inner ear and kidney.[7] The Kir4.1 channel is expressed in the Stria vascularis and is essential for formation of the endolymph, the fluid that surrounds the mechanosensitive stereocilia of the sensory hair cells that make hearing possible.[8]

Interactions[edit]

KCNJ10 has been shown to interact with Interleukin 16.[9]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Tada Y, Horio Y, Takumi T, Terayama M, Tsuji L, Copeland NG, Jenkins NA, Kurachi Y (November 1997). "Assignment of the glial inwardly rectifying potassium channel KAB-2/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1". Genomics. 45 (3): 629–30. doi:10.1006/geno.1997.4957. PMID 9367690. 
  4. ^ Shuck ME, Piser TM, Bock JH, Slightom JL, Lee KS, Bienkowski MJ (January 1997). "Cloning and characterization of two K+ inward rectifier (Kir) 1.1 potassium channel homologs from human kidney (Kir1.2 and Kir1.3)". The Journal of Biological Chemistry. 272 (1): 586–93. doi:10.1074/jbc.272.1.586. PMID 8995301. 
  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". Pharmacological Reviews. 57 (4): 509–26. doi:10.1124/pr.57.4.11. PMID 16382105. 
  6. ^ a b "Entrez Gene: KCNJ10 potassium inwardly-rectifying channel, subfamily J, member 10". 
  7. ^ Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R (May 2009). "Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations". The New England Journal of Medicine. 360 (19): 1960–70. doi:10.1056/NEJMoa0810276. PMC 3398803free to read. PMID 19420365. 
  8. ^ Nin F, Hibino H, Doi K, Suzuki T, Hisa Y, Kurachi Y (February 2008). "The endocochlear potential depends on two K+ diffusion potentials and an electrical barrier in the stria vascularis of the inner ear". Proceedings of the National Academy of Sciences of the United States of America. 105 (5): 1751–6. doi:10.1073/pnas.0711463105. PMC 2234216free to read. PMID 18218777. 
  9. ^ Kurschner C, Yuzaki M (September 1999). "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein". The Journal of Neuroscience. 19 (18): 7770–80. PMID 10479680. 

Further reading[edit]

  • Horio Y, Hibino H, Inanobe A, Yamada M, Ishii M, Tada Y, Satoh E, Hata Y, Takai Y, Kurachi Y (May 1997). "Clustering and enhanced activity of an inwardly rectifying potassium channel, Kir4.1, by an anchoring protein, PSD-95/SAP90". The Journal of Biological Chemistry. 272 (20): 12885–8. doi:10.1074/jbc.272.20.12885. PMID 9148889. 
  • Kurschner C, Mermelstein PG, Holden WT, Surmeier DJ (June 1998). "CIPP, a novel multivalent PDZ domain protein, selectively interacts with Kir4.0 family members, NMDA receptor subunits, neurexins, and neuroligins". Molecular and Cellular Neurosciences. 11 (3): 161–72. doi:10.1006/mcne.1998.0679. PMID 9647694. 
  • Kurschner C, Yuzaki M (September 1999). "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein". The Journal of Neuroscience. 19 (18): 7770–80. PMID 10479680. 
  • Schoots O, Wilson JM, Ethier N, Bigras E, Hebert TE, Van Tol HH (December 1999). "Co-expression of human Kir3 subunits can yield channels with different functional properties". Cellular Signalling. 11 (12): 871–83. doi:10.1016/S0898-6568(99)00059-5. PMID 10659995. 
  • Fujita A, Horio Y, Higashi K, Mouri T, Hata F, Takeguchi N, Kurachi Y (April 2002). "Specific localization of an inwardly rectifying K(+) channel, Kir4.1, at the apical membrane of rat gastric parietal cells; its possible involvement in K(+) recycling for the H(+)-K(+)-pump". The Journal of Physiology. 540 (Pt 1): 85–92. doi:10.1113/jphysiol.2001.013439. PMC 2290207free to read. PMID 11927671. 
  • Farook VS, Hanson RL, Wolford JK, Bogardus C, Prochazka M (November 2002). "Molecular analysis of KCNJ10 on 1q as a candidate gene for Type 2 diabetes in Pima Indians". Diabetes. 51 (11): 3342–6. doi:10.2337/diabetes.51.11.3342. PMID 12401729. 
  • Konstas AA, Korbmacher C, Tucker SJ (April 2003). "Identification of domains that control the heteromeric assembly of Kir5.1/Kir4.0 potassium channels". American Journal of Physiology. Cell Physiology. 284 (4): C910–7. doi:10.1152/ajpcell.00479.2002. PMID 12456399. 
  • Casamassima M, D'Adamo MC, Pessia M, Tucker SJ (October 2003). "Identification of a heteromeric interaction that influences the rectification, gating, and pH sensitivity of Kir4.1/Kir5.1 potassium channels". The Journal of Biological Chemistry. 278 (44): 43533–40. doi:10.1074/jbc.M306596200. PMID 12923169. 
  • Buono RJ, Lohoff FW, Sander T, Sperling MR, O'Connor MJ, Dlugos DJ, Ryan SG, Golden GT, Zhao H, Scattergood TM, Berrettini WH, Ferraro TN (February 2004). "Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility". Epilepsy Research. 58 (2-3): 175–83. doi:10.1016/j.eplepsyres.2004.02.003. PMID 15120748. 
  • Lenzen KP, Heils A, Lorenz S, Hempelmann A, Höfels S, Lohoff FW, Schmitz B, Sander T (February 2005). "Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy". Epilepsy Research. 63 (2-3): 113–8. doi:10.1016/j.eplepsyres.2005.01.002. PMID 15725393. 
  • Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 
  • Huang C, Sindic A, Hill CE, Hujer KM, Chan KW, Sassen M, Wu Z, Kurachi Y, Nielsen S, Romero MF, Miller RT (March 2007). "Interaction of the Ca2+-sensing receptor with the inwardly rectifying potassium channels Kir4.1 and Kir4.2 results in inhibition of channel function". American Journal of Physiology. Renal Physiology. 292 (3): F1073–81. doi:10.1152/ajprenal.00269.2006. PMID 17122384. 

External links[edit]

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