Biology:KCNJ10
 Generic protein structure example |
ATP-sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the KCNJ10 gene.[1][2][3][4]
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.[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]
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.[7] 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.[8]
Interactions
KCNJ10 has been shown to interact with Interleukin 16.[9]
See also
- Inward-rectifier potassium ion channel
References
- ↑ "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. November 1997. doi:10.1006/geno.1997.4957. PMID 9367690.
- ↑ "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. January 1997. doi:10.1074/jbc.272.1.586. PMID 8995301.
- ↑ "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacological Reviews 57 (4): 509–26. December 2005. doi:10.1124/pr.57.4.11. PMID 16382105.
- ↑ 4.0 4.1 "Entrez Gene: KCNJ10 potassium inwardly-rectifying channel, subfamily J, member 10". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3766.
- ↑ "Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations". The New England Journal of Medicine 360 (19): 1960–70. May 2009. doi:10.1056/NEJMoa0810276. PMID 19420365.
- ↑ "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. February 2008. doi:10.1073/pnas.0711463105. PMID 18218777. Bibcode: 2008PNAS..105.1751N.
- ↑ "MeCP2 Deficiency Leads to Loss of Glial Kir4.1". eNeuro 5 (1): ENEURO.0194–17.2018. January 2018. doi:10.1523/ENEURO.0194-17.2018. PMID 29464197.
- ↑ "Do Astrocytes Play a Role in Intellectual Disabilities?". Trends in Neurosciences 42 (8): 518–527. August 2019. doi:10.1016/j.tins.2019.05.011. PMID 31300246.
- ↑ "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein". The Journal of Neuroscience 19 (18): 7770–80. September 1999. doi:10.1523/JNEUROSCI.19-18-07770.1999. PMID 10479680.
Further reading
- "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. May 1997. doi:10.1074/jbc.272.20.12885. PMID 9148889.
- "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. June 1998. doi:10.1006/mcne.1998.0679. PMID 9647694.
- "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein". The Journal of Neuroscience 19 (18): 7770–80. September 1999. doi:10.1523/JNEUROSCI.19-18-07770.1999. PMID 10479680.
- "Co-expression of human Kir3 subunits can yield channels with different functional properties". Cellular Signalling 11 (12): 871–83. December 1999. doi:10.1016/S0898-6568(99)00059-5. PMID 10659995.
- "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. April 2002. doi:10.1113/jphysiol.2001.013439. PMID 11927671.
- "Molecular analysis of KCNJ10 on 1q as a candidate gene for Type 2 diabetes in Pima Indians". Diabetes 51 (11): 3342–6. November 2002. doi:10.2337/diabetes.51.11.3342. PMID 12401729.
- "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. April 2003. doi:10.1152/ajpcell.00479.2002. PMID 12456399.
- "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. October 2003. doi:10.1074/jbc.M306596200. PMID 12923169.
- "Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility". Epilepsy Research 58 (2–3): 175–83. February 2004. doi:10.1016/j.eplepsyres.2004.02.003. PMID 15120748.
- "Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy". Epilepsy Research 63 (2–3): 113–8. February 2005. doi:10.1016/j.eplepsyres.2005.01.002. PMID 15725393.
- "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. October 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
- "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. March 2007. 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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