KCNC1
Potassium voltage-gated channel subfamily C member 1is aproteinthat in humans is encoded by theKCNC1gene.[5][6][7]
The Shaker gene family ofDrosophilaencodes components ofvoltage-gated potassium channelsand comprises four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to thedelayed rectifierclass of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes.[7]
Expression pattern
[edit]Kv3.1 and Kv3.2 channels are prominently expressed inneuronsthat fire at high frequency. Kv3.1 channels are prominently expressed in brain (cerebellum>globus pallidus,subthalamic nucleus,substantia nigra>reticular thalamic nuclei,corticalandhippocampalinterneurons>inferior colliculi,cochlearandvestibularnuclei), and inretinal ganglion cells.[8][9][10]
Physiological role
[edit]Kv3.1/Kv3.2 conductance is necessary and kinetically optimized for high-frequency action potential generation.[9][11]Kv3.1 channels are important for the high-firing frequency of auditory and fast-spiking GABAergic interneurons, retinal ganglion cells; regulation ofaction potentialduration inpresynapticterminals.[8][10]
Pharmacological properties
[edit]Kv3.1 currents inheterologoussystems are highly sensitive to externaltetraethylammonium(TEA) or4-aminopyridine(4-AP) (IC50values are 0.2 mM and 29 μM respectively).[9][10]This can be useful in identifying native channels.[9]The overlapping sensitivity of potassium current to both 0.5 mM TEA and 30 μM 4-AP strongly suggest an action on Kv3.1 subunits.[12]
Transcript variants
[edit]There are twotranscript variantsof Kv3.1 gene: Kv3.1a and Kv3.1b. Kv3.1 isoforms differ only in theirC-terminalsequence.[13]
Clinical significance
[edit]Amissense mutationc.959G>A (p.Arg320His) inKCNC1causesprogressive myoclonus epilepsy.[14]
See also
[edit]References
[edit]- ^abcGRCh38: Ensembl release 89: ENSG00000129159–Ensembl,May 2017
- ^abcGRCm38: Ensembl release 89: ENSMUSG00000058975–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.
- ^Ried T, Rudy B, Vega-Saenz de Miera E, Lau D, Ward DC, Sen K (Apr 1993)."Localization of a highly conserved human potassium channel gene (NGK2-KV4; KCNC1) to chromosome 11p15".Genomics.15(2): 405–11.doi:10.1006/geno.1993.1075.PMID8449507.
- ^Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stuhmer W, Wang X (Dec 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels".Pharmacol Rev.57(4): 473–508.doi:10.1124/pr.57.4.10.PMID16382104.S2CID219195192.
- ^ab"Entrez Gene: KCNC1 potassium voltage-gated channel, Shaw-related subfamily, member 1".
- ^abKolodin YO (2008-04-27)."Ionic conductances underlying excitability in tonically firing retinal ganglion cells of adult rat".Retrieved2008-10-20.
- ^abcdRudy B, McBain CJ (September 2001). "Kv3 channels: voltage-gated K+channels designed for high-frequency repetitive firing ".Trends in Neurosciences.24(9): 517–26.doi:10.1016/S0166-2236(00)01892-0.PMID11506885.S2CID36100588.
- ^abcGutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stühmer W, Wang X (December 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels".Pharmacological Reviews.57(4): 473–508.doi:10.1124/pr.57.4.10.PMID16382104.S2CID219195192.
- ^Lien CC, Jonas P (March 2003)."Kv3 potassium conductance is necessary and kinetically optimized for high-frequency action potential generation in hippocampal interneurons ".Journal of Neuroscience.23(6): 2058–68.doi:10.1523/JNEUROSCI.23-06-02058.2003.PMC6742035.PMID12657664.
- ^Dallas ML, Atkinson L, Milligan CJ, Morris NP, Lewis DI, Deuchars SA, Deuchars J (February 2005)."Localization and function of the Kv3.1b subunit in the rat medulla oblongata: focus on the nucleus tractus solitarii".The Journal of Physiology.562(Pt 3): 655–72.doi:10.1113/jphysiol.2004.073338.PMC1665536.PMID15528247.
- ^Rudy B, Chow A, Lau D, Amarillo Y, Ozaita A, Saganich M, Moreno H, Nadal MS, Hernandez-Pineda R, Hernandez-Cruz A, Erisir A, Leonard C, Vega-Saenz de Miera E (April 1999)."Contributions of Kv3 channels to neuronal excitability ".Annals of the New York Academy of Sciences.868(1): 304–43.Bibcode:1999NYASA.868..304R.doi:10.1111/j.1749-6632.1999.tb11295.x.PMID10414303.S2CID25289187.
- ^Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE (2015)."A recurrentde novomutation inKCNC1causes progressive myoclonus epilepsy ".Nature Genetics.47(1): 39–46.doi:10.1038/ng.3144.PMC4281260.PMID25401298.
Further reading
[edit]- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006)."Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes".Genome Res.16(1): 55–65.doi:10.1101/gr.4039406.PMC1356129.PMID16344560.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004)."Complete sequencing and characterization of 21,243 full-length human cDNAs".Nat. Genet.36(1): 40–5.doi:10.1038/ng1285.PMID14702039.
- Devaux J, Alcaraz G, Grinspan J, et al. (2003)."Kv3.1b is a novel component of CNS nodes".J. Neurosci.23(11): 4509–18.doi:10.1523/JNEUROSCI.23-11-04509.2003.PMC6740813.PMID12805291.
- 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.Bibcode:2002PNAS...9916899M.doi:10.1073/pnas.242603899.PMC139241.PMID12477932.
- Ottschytsch N, Raes A, Van Hoorick D, Snyders DJ (2002)."Obligatory heterotetramerization of three previously uncharacterized Kv channel Alpha -subunits identified in the human genome".Proc. Natl. Acad. Sci. U.S.A.99(12): 7986–91.Bibcode:2002PNAS...99.7986O.doi:10.1073/pnas.122617999.PMC123007.PMID12060745.
- Xu J, Yu W, Jan YN, et al. (1995)."Assembly of voltage-gated potassium channels. Conserved hydrophilic motifs determine subfamily-specific interactions between the Alpha -subunits".J. Biol. Chem.270(42): 24761–8.doi:10.1074/jbc.270.42.24761.PMID7559593.
- Grissmer S, Ghanshani S, Dethlefs B, et al. (1992)."The Shaw-related potassium channel gene, Kv3.1, on human chromosome 11, encodes the type l K+ channel in T cells".J. Biol. Chem.267(29): 20971–9.doi:10.1016/S0021-9258(19)36784-5.PMID1400413.
External links
[edit]- Kv3.1+Potassium+Channelat the U.S. National Library of MedicineMedical Subject Headings(MeSH)
- KCNC1+protein,+humanat the U.S. National Library of MedicineMedical Subject Headings(MeSH)
This article incorporates text from theUnited States National Library of Medicine,which is in thepublic domain.