T3DB: Potassium voltage-gated channel subfamily C member 1

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Name	Potassium voltage-gated channel subfamily C member 1
Synonyms	NGK2 Voltage-gated potassium channel subunit Kv3.1 Voltage-gated potassium channel subunit Kv4
Gene Name	KCNC1
Organism	Human
Amino acid sequence	>lcl\|BSEQ0008574\|Potassium voltage-gated channel subfamily C member 1 MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHFDYDPRADEFFFDRH PGVFAHILNYYRTGKLHCPADVCGPLYEEELAFWGIDETDVEPCCWMTYRQHRDAEEALD SFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDSPDGRPGGFWRRWQPRIWALF EDPYSSRYARYVAFASLFFILVSITTFCLETHERFNPIVNKTEIENVRNGTQVRYYREAE TEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSS KAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFA TMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALC ALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPH HSTQSDTCPLAQEEILEINRAGRKPLRGMSI
Number of residues	511
Molecular Weight	57941.87
Theoretical pI	Not Available
GO Classification	Functions voltage-gated potassium channel activity delayed rectifier potassium channel activity Processes potassium ion transmembrane transport response to nerve growth factor response to toxic substance cerebellum development cellular response to drug response to amine protein homooligomerization positive regulation of potassium ion transmembrane transport potassium ion transport synaptic transmission response to fibroblast growth factor response to auditory stimulus response to potassium ion protein tetramerization globus pallidus development response to light intensity Components axolemma dendrite membrane plasma membrane neuronal cell body membrane voltage-gated potassium channel complex cell surface integral component of membrane dendrite
General Function	Voltage-gated potassium channel activity
Specific Function	Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient. Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well. Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons.
Pfam Domain Function	Ion_trans (PF00520 ) BTB_2 (PF02214 )
Transmembrane Regions	191-209 248-267 277-295 309-331 345-366 415-436
GenBank Protein ID	Not Available
UniProtKB ID	P48547
UniProtKB Entry Name	KCNC1_HUMAN
Cellular Location	Cell membrane
Gene sequence	>lcl\|BSEQ0021874\|Potassium voltage-gated channel subfamily C member 1 (KCNC1) ATGGGCCAAGGGGACGAGAGCGAGCGCATCGTGATCAACGTGGGCGGCACGCGCCACCAG ACGTACCGCTCGACCCTGCGCACGCTGCCCGGCACGCGGCTCGCCTGGCTGGCGGAGCCC GACGCCCACAGCCACTTCGACTATGACCCGCGTGCTGACGAGTTCTTCTTCGACCGCCAC CCCGGCGTCTTCGCGCACATCCTGAACTACTACCGCACGGGCAAGCTGCACTGCCCAGCC GACGTGTGCGGGCCGCTCTACGAGGAGGAGCTGGCCTTCTGGGGCATCGACGAGACCGAC GTGGAGCCCTGCTGCTGGATGACGTACCGCCAGCACCGCGACGCCGAGGAGGCTCTGGAC AGCTTCGGCGGCGCTCCTCTGGACAACAGCGCCGACGACGCGGACGCCGACGGCCCTGGC GACTCGGGCGACGGCGAGGACGAGCTGGAGATGACCAAGCGCCTGGCGCTCAGTGACTCC CCGGATGGCCGGCCTGGCGGCTTTTGGCGCCGCTGGCAGCCGCGCATCTGGGCGCTCTTC GAGGACCCGTACTCGTCCCGCTACGCGCGGTATGTGGCCTTCGCTTCCCTCTTCTTCATC CTGGTCTCCATCACCACCTTCTGCCTGGAGACCCACGAGCGCTTCAACCCCATCGTGAAC AAGACGGAGATCGAGAACGTTCGCAATGGCACGCAAGTGCGCTACTACCGGGAGGCCGAG ACGGAGGCCTTCCTTACCTACATCGAGGGCGTCTGTGTGGTCTGGTTCACCTTCGAGTTC CTCATGCGTGTCATCTTCTGCCCCAACAAGGTAGAGTTCATCAAGAACTCGCTCAACATC ATTGACTTTGTGGCCATCCTGCCCTTCTACCTGGAGGTGGGGCTGAGCGGCCTGTCCTCC AAGGCAGCCAAGGACGTGCTGGGCTTCCTGCGCGTCGTCCGCTTCGTGCGCATCTTGCGC ATCTTTAAGCTGACCCGCCACTTTGTGGGCCTGCGGGTCCTGGGCCACACGCTCCGAGCC AGCACCAACGAGTTCCTGCTGCTCATCATCTTCCTGGCCTTGGGCGTGCTGATCTTCGCC ACCATGATCTACTACGCCGAGAGGATAGGGGCACAGCCCAATGACCCCAGCGCCAGTGAG CACACGCACTTTAAGAACATCCCCATCGGCTTCTGGTGGGCCGTGGTCACCATGACGACC CTGGGCTATGGAGACATGTACCCGCAGACGTGGTCCGGCATGCTGGTGGGGGCTCTGTGT GCGCTGGCGGGCGTGCTCACCATCGCCATGCCCGTGCCCGTCATCGTGAACAATTTCGGG ATGTATTACTCCTTAGCCATGGCTAAGCAGAAACTACCAAAGAAAAAAAAGAAGCATATT CCGCGGCCACCGCAGCTGGGATCTCCCAATTATTGTAAATCTGTCGTAAACTCTCCACAC CACAGTACTCAGAGTGACACATGTCCGCTGGCCCAGGAAGAAATTTTAGAAATTAACAGA GCAGATTCCAAACTGAATGGGGAGGTGGCGAAGGCCGCGCTGGCGAACGAAGACTGCCCC CACATAGACCAGGCCCTCACTCCCGATGAGGGCCTGCCCTTTACGCGCTCGGGCACCCGC GAGAGATACGGACCCTGCTTCCTCTTATCAACCGGGGAGTACGCGTGCCCACCTGGTGGA GGAATGAGAAAGGATCTTTGCAAAGAAAGCCCTGTCATTGCTAAGTATATGCCGACAGAG GCTGTGAGAGTGACTTGA
GenBank Gene ID	Not Available
GeneCard ID	Not Available
GenAtlas ID	Not Available
HGNC ID	HGNC:6233
Chromosome Location	11
Locus	Not Available
References	Ried T, Rudy B, Vega-Saenz de Miera E, Lau D, Ward DC, Sen K: Localization of a highly conserved human potassium channel gene (NGK2-KV4; KCNC1) to chromosome 11p15. Genomics. 1993 Feb;15(2):405-11. 8449507 Taylor TD, Noguchi H, Totoki Y, Toyoda A, Kuroki Y, Dewar K, Lloyd C, Itoh T, Takeda T, Kim DW, She X, Barlow KF, Bloom T, Bruford E, Chang JL, Cuomo CA, Eichler E, FitzGerald MG, Jaffe DB, LaButti K, Nicol R, Park HS, Seaman C, Sougnez C, Yang X, Zimmer AR, Zody MC, Birren BW, Nusbaum C, Fujiyama A, Hattori M, Rogers J, Lander ES, Sakaki Y: Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature. 2006 Mar 23;440(7083):497-500. 16554811 Grissmer S, Ghanshani S, Dethlefs B, McPherson JD, Wasmuth JJ, Gutman GA, Cahalan MD, Chandy KG: The Shaw-related potassium channel gene, Kv3.1, on human chromosome 11, encodes the type l K+ channel in T cells. J Biol Chem. 1992 Oct 15;267(29):20971-9. 1400413 Zhao J, Zhu J, Thornhill WB: Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface. Biochem J. 2013 Sep 1;454(2):259-65. doi: 10.1042/BJ20130034. 23734863 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, Moller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE: A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17. 25401298