KCNJ10
| KCNJ10 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | KCNJ10, BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME, potassium voltage-gated channel subfamily J member 10, potassium inwardly rectifying channel subfamily J member 10 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 602208; MGI: 1194504; HomoloGene: 1689; GeneCards: KCNJ10; OMA:KCNJ10 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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ATP-sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the KCNJ10 gene.[5][6][7][8]
Function
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.[8]
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.[9] 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.[10]
Rett Syndrome
Rett syndrome is a neurological disorder characterized by a mutation in the MeCP2 gene. This mutation results in less MeCP2. KCNJ10 expression is upregulated by the transcription factor MeCP2.[11] MeCP2 deficiency leads to less Kir4.1 channels present on astrocytes in the brain. Since there are fewer channels allowing potassium into the cells, extracellular potassium levels are higher. Higher extracellular potassium leaves neurons more easily excitable which could contribute to the epilepsy observed in many Rett Syndrome patients.[12]
Interactions
KCNJ10 has been shown to interact with Interleukin 16.[13]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000177807 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000044708 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Tada Y, Horio Y, Takumi T, Terayama M, Tsuji L, Copeland NG, et al. (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.
- ^ 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.
- ^ Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, et al. (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.
- ^ a b "Entrez Gene: KCNJ10 potassium inwardly-rectifying channel, subfamily J, member 10".
- ^ Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, et al. (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 3398803. 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". Proceedings of the National Academy of Sciences of the United States of America. 105 (5): 1751–6. doi:10.1073/pnas.0711463105. PMC 2234216. PMID 18218777.
- ^ Kahanovitch U, Cuddapah VA, Pacheco NL, Holt LM, Mulkey DK, Percy AK, Olsen ML (January 2018). "MeCP2 Deficiency Leads to Loss of Glial Kir4.1". eNeuro. 5 (1): ENEURO.0194–17.2018. doi:10.1523/ENEURO.0194-17.2018. PMC 5818552. PMID 29464197.
- ^ Cresto N, Pillet LE, Billuart P, Rouach N (August 2019). "Do Astrocytes Play a Role in Intellectual Disabilities?". Trends in Neurosciences. 42 (8): 518–527. doi:10.1016/j.tins.2019.05.011. PMID 31300246.
- ^ 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. doi:10.1523/JNEUROSCI.19-18-07770.1999. PMC 6782450. PMID 10479680.
Further reading
- Horio Y, Hibino H, Inanobe A, Yamada M, Ishii M, Tada Y, et al. (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. doi:10.1523/JNEUROSCI.19-18-07770.1999. PMC 6782450. 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 2290207. 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, et al. (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, et al. (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, et al. (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, et al. (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
- GeneReviews/NCBI/NIH/UW entry on Pendred Syndrome/DFNB4
- KCNJ10+protein,+human at the U.S. 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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