KCNC1 (original) (raw)

From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

KCNC1
Identifiers
Aliases	KCNC1, KV3.1, KV4, NGK2, EPM7, potassium voltage-gated channel subfamily C member 1
External IDs	OMIM: 176258; MGI: 96667; HomoloGene: 68134; GeneCards: KCNC1; OMA:KCNC1 - orthologs
Gene location (Human)Chr.Chromosome 11 (human)[1]Band11p15.1Start17,734,774 bp[1]End17,856,804 bp[1]
Gene location (Mouse)Chr.Chromosome 7 (mouse)[2]Band7 B3|7 30.1 cMStart46,045,921 bp[2]End46,088,128 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inright hemisphere of cerebellumprimary visual cortexcerebellar vermisright frontal lobeBrodmann area 9prefrontal cortexBrodmann area 23cingulate gyrusanterior cingulate cortexpostcentral gyrusTop expressed incerebellar cortexlobe of cerebellumcerebellar vermissubstantia nigrapontine nucleilateral geniculate nucleusdeep cerebellar nucleimedial geniculate nucleusmedial vestibular nucleusdorsal tegmental nucleusMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function potassium channel activity transmembrane transporter binding voltage-gated ion channel activity ion channel activity voltage-gated potassium channel activity delayed rectifier potassium channel activity kinesin binding voltage-gated ion channel activity involved in regulation of presynaptic membrane potential Cellular component integral component of membrane membrane voltage-gated potassium channel complex plasma membrane neuronal cell body membrane cell surface neuronal cell body dendrite neuron projection membrane axolemma dendrite membrane calyx of Held integral component of postsynaptic membrane integral component of presynaptic membrane axon Biological process response to potassium ion response to nerve growth factor response to fibroblast growth factor regulation of ion transmembrane transport ion transport protein tetramerization globus pallidus development cerebellum development potassium ion transport brain development transmembrane transport potassium ion transmembrane transport response to amine positive regulation of potassium ion transmembrane transport response to auditory stimulus response to light intensity protein homooligomerization positive regulation of ion transmembrane transport response to toxic substance regulation of potassium ion transmembrane transport positive regulation of voltage-gated potassium channel activity regulation of presynaptic membrane potential Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez374616502EnsemblENSG00000129159ENSMUSG00000058975UniProtP48547P15388RefSeq (mRNA)NM_001112741NM_004976NM_001112739NM_008421RefSeq (protein)NP_001106212NP_004967NP_001106210NP_032447Location (UCSC)Chr 11: 17.73 – 17.86 MbChr 7: 46.05 – 46.09 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Potassium voltage-gated channel subfamily C member 1 is a protein that in humans is encoded by the KCNC1 gene.[5][6][7]

The Shaker gene family of Drosophila encodes components of 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 the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes.[7]

Kv3.1 and Kv3.2 channels are prominently expressed in neurons that fire at high frequency. Kv3.1 channels are prominently expressed in brain (cerebellum > globus pallidus, subthalamic nucleus, substantia nigra > reticular thalamic nuclei, cortical and hippocampal interneurons > inferior colliculi, cochlear and vestibular nuclei), and in retinal ganglion cells.[8][9][10]

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 of action potential duration in presynaptic terminals.[8][10]

Pharmacological properties

[edit]

Kv3.1 currents in heterologous systems are highly sensitive to external tetraethylammonium (TEA) or 4-aminopyridine (4-AP) (IC50 values 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 two transcript variants of Kv3.1 gene: Kv3.1a and Kv3.1b. Kv3.1 isoforms differ only in their C-terminal sequence.[13]

Clinical significance

[edit]

A missense mutation c.959G>A (p.Arg320His) in KCNC1 causes progressive myoclonus epilepsy.[14]

• Voltage-gated potassium channel

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000129159 – Ensembl, May 2017
2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000058975 – Ensembl, May 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ 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.
6. ^ 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.
7. ^ a b "Entrez Gene: KCNC1 potassium voltage-gated channel, Shaw-related subfamily, member 1".
8. ^ a b Kolodin YO (2008-04-27). "Ionic conductances underlying excitability in tonically firing retinal ganglion cells of adult rat". Retrieved 2008-10-20.
9. ^ a b c d Rudy 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. PMID 11506885. S2CID 36100588.
10. ^ 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.
11. ^ 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. PMC 6742035. PMID 12657664.
12. ^ 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.
13. ^ 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. PMID 10414303. S2CID 25289187.
14. ^ 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 recurrent de novo mutation in KCNC1 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.

• Kv3.1+Potassium+Channel at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

• KCNC1+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.