KCNJ10
From Wikipedia, the free encyclopedia
ATP-sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the KCNJ10 gene.[1][2][3][4]
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.[4]
EAST syndrome
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.[5] 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.[6]
Interactions
KCNJ10 has been shown to interact with Interleukin 16.[7]
See also
References
- ↑ Tada Y, Horio Y, Takumi T, Terayama M, Tsuji L, Copeland NG, Jenkins NA, Kurachi Y (Jan 1998). "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.
- ↑ Shuck ME, Piser TM, Bock JH, Slightom JL, Lee KS, Bienkowski MJ (Feb 1997). "Cloning and characterization of two K+ inward rectifier (Kir) 1.1 potassium channel homologs from human kidney (Kir1.2 and Kir1.3)". J Biol Chem 272 (1): 586–93. doi:10.1074/jbc.272.1.586. PMID 8995301.
- ↑ Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA (Dec 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.
- ↑ 4.0 4.1 "Entrez Gene: KCNJ10 potassium inwardly-rectifying channel, subfamily J, member 10".
- ↑ 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". N Engl J Med. 2009 May 7;360(19):. 360 (19): 1960–70. doi:10.1056/NEJMoa0810276. PMID 19420365.
- ↑ 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". Proc Natl Acad Sci U S A. 105 (5): 1751–1756. doi:10.1073/pnas.0711463105. PMC 2234216. PMID 18218777.
- ↑ Kurschner, C; Yuzaki M (Sep. 1999 1999). "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein". J. Neurosci. (UNITED STATES) 19 (18): 7770–80. PMID 10479680.
Further reading
- Horio Y, Hibino H, Inanobe A, et al. (1997). "Clustering and enhanced activity of an inwardly rectifying potassium channel, Kir4.1, by an anchoring protein, PSD-95/SAP90.". J. Biol. Chem. 272 (20): 12885–8. doi:10.1074/jbc.272.20.12885. PMID 9148889.
- Kurschner C, Mermelstein PG, Holden WT, Surmeier DJ (1998). "CIPP, a novel multivalent PDZ domain protein, selectively interacts with Kir4.0 family members, NMDA receptor subunits, neurexins, and neuroligins.". Mol. Cell. Neurosci. 11 (3): 161–72. doi:10.1006/mcne.1998.0679. PMID 9647694.
- Kurschner C, Yuzaki M (1999). "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein.". J. Neurosci. 19 (18): 7770–80. PMID 10479680.
- Schoots O, Wilson JM, Ethier N, et al. (2000). "Co-expression of human Kir3 subunits can yield channels with different functional properties.". Cell. Signal. 11 (12): 871–83. doi:10.1016/S0898-6568(99)00059-5. PMID 10659995.
- Fujita A, Horio Y, Higashi K, et al. (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.". J. Physiol. (Lond.) 540 (Pt 1): 85–92. doi:10.1113/jphysiol.2001.013439. PMC 2290207. PMID 11927671.
- Farook VS, Hanson RL, Wolford JK, et al. (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 (2003). "Identification of domains that control the heteromeric assembly of Kir5.1/Kir4.0 potassium channels.". Am. J. Physiol., Cell Physiol. 284 (4): C910–7. doi:10.1152/ajpcell.00479.2002. PMID 12456399.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Casamassima M, D'Adamo MC, Pessia M, Tucker SJ (2003). "Identification of a heteromeric interaction that influences the rectification, gating, and pH sensitivity of Kir4.1/Kir5.1 potassium channels.". J. Biol. Chem. 278 (44): 43533–40. doi:10.1074/jbc.M306596200. PMID 12923169.
- Buono RJ, Lohoff FW, Sander T, et al. (2004). "Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility.". Epilepsy Res. 58 (2–3): 175–83. doi:10.1016/j.eplepsyres.2004.02.003. PMID 15120748.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Lenzen KP, Heils A, Lorenz S, et al. (2005). "Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy.". Epilepsy Res. 63 (2–3): 113–8. doi:10.1016/j.eplepsyres.2005.01.002. PMID 15725393.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1.". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
- Huang C, Sindic A, Hill CE, et al. (2007). "Interaction of the Ca2+-sensing receptor with the inwardly rectifying potassium channels Kir4.1 and Kir4.2 results in inhibition of channel function.". Am. J. Physiol. Renal Physiol. 292 (3): F1073–81. doi:10.1152/ajprenal.00269.2006. PMID 17122384.
External links
- GeneReviews/NCBI/NIH/UW entry on Pendred Syndrome/DFNB4
- KCNJ10 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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