Protein-coding gene in the species Homo sapiens
Potassium voltage-gated channel subfamily C member 1 is aprotein that in humans is encoded by theKCNC1 gene .[ 5] [ 6] [ 7]
The Shaker gene family ofDrosophila voltage-gated potassium channels and 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 rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes.[ 7]
Kv 3.1 and Kv 3.2 channels are prominently expressed inneurons that fire at high frequency. Kv 3.1 channels are prominently expressed in brain (cerebellum >globus pallidus ,subthalamic nucleus ,substantia nigra >reticular thalamic nuclei ,cortical andhippocampal interneurons >inferior colliculi ,cochlear andvestibular nuclei), and inretinal ganglion cells .[ 8] [ 9] [ 10]
Kv 3.1/Kv 3.2 conductance is necessary and kinetically optimized for high-frequency action potential generation.[ 9] [ 11] v 3.1 channels are important for the high-firing frequency of auditory and fast-spiking GABAergic interneurons, retinal ganglion cells; regulation ofaction potential duration inpresynaptic terminals.[ 8] [ 10]
Pharmacological properties [ edit ] Kv 3.1 currents inheterologous systems are highly sensitive to externaltetraethylammonium (TEA) or4-aminopyridine (4-AP) (IC50 values are 0.2 mM and 29 μM respectively).[ 9] [ 10] [ 9] v 3.1 subunits.[ 12]
Transcript variants [ edit ] There are twotranscript variants of Kv 3.1 gene: Kv 3.1a and Kv 3.1b. Kv 3.1 isoforms differ only in theirC-terminal sequence.[ 13]
Clinical significance [ edit ] Amissense mutation c.959G>A (p.Arg320His) inKCNC1 causesprogressive myoclonus epilepsy .[ 14]
^a b c GRCh38: Ensembl release 89: ENSG00000129159 –Ensembl , May 2017^a b c GRCm38: 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 PMID 8449507 . ^ 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 .PMID 16382104 .S2CID 219195192 . ^a b "Entrez Gene: KCNC1 potassium voltage-gated channel, Shaw-related subfamily, member 1" .^a b Kolodin YO (2008-04-27)."Ionic conductances underlying excitability in tonically firing retinal ganglion cells of adult rat" . Retrieved2008-10-20 . ^a b c d Rudy B, McBain CJ (September 2001). "Kv 3 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 .PMID 11506885 .S2CID 36100588 . ^a b c Gutman 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 .PMID 16382104 .S2CID 219195192 . ^ Lien CC, Jonas P (March 2003)."Kv 3 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 PMC 6742035 PMID 12657664 . ^ 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 .PMC 1665536 PMID 15528247 . ^ 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 Kv 3 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 PMID 10414303 .S2CID 25289187 . ^ 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 novo mutation inKCNC1 causes progressive myoclonus epilepsy" .Nature Genetics .47 (1):39– 46.doi :10.1038/ng.3144 .PMC 4281260 PMID 25401298 . 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 .PMC 1356129 PMID 16344560 . 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 PMID 14702039 . 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 PMC 6740813 PMID 12805291 . 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 PMC 139241 PMID 12477932 . 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 PMC 123007 PMID 12060745 . 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 PMID 7559593 . 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 PMID 1400413 . This article incorporates text from theUnited States National Library of Medicine , which is in thepublic domain .
