T3DB: Potassium voltage-gated channel subfamily C member 3

Name	Potassium voltage-gated channel subfamily C member 3
Synonyms	KSHIIID Voltage-gated potassium channel subunit Kv3.3
Gene Name	KCNC3
Organism	Human
Amino acid sequence	>lcl\|BSEQ0019627\|Potassium voltage-gated channel subfamily C member 3 MLSSVCVSSFRGRQGASKQQPAPPPQPPESPPPPPLPPQQQQPAQPGPAASPAGPPAPRG PGDRRAEPCPGLPAAAMGRHGGGGGDSGKIVINVGGVRHETYRSTLRTLPGTRLAGLTEP EAAARFDYDPGADEFFFDRHPGVFAYVLNYYRTGKLHCPADVCGPLFEEELGFWGIDETD VEACCWMTYRQHRDAEEALDSFEAPDPAGAANAANAAGAHDGGLDDEAGAGGGGLDGAGG ELKRLCFQDAGGGAGGPPGGAGGAGGTWWRRWQPRVWALFEDPYSSRAARYVAFASLFFI LISITTFCLETHEGFIHISNKTVTQASPIPGAPPENITNVEVETEPFLTYVEGVCVVWFT FEFLMRITFCPDKVEFLKSSLNIIDCVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVR ILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGADPDDIL GSNHTYFKNIPIGFWWAVVTMTTLGYGDMYPKTWSGMLVGALCALAGVLTIAMPVPVIVN NFGMYYSLAMAKQKLPKKKNKHIPRPPQPGSPNYCKPDPPPPPPPHPHHGSGGISPPPPI TPPSMGVTVAGAYPAGPHTHPGLLRGGAGGLGIMGLPPLPAPGEPCPLAQEEVIEINRAD PRPNGDPAAAALAHEDCPAIDQPAMSPEDKSPITPGSRGRYSRDRACFLLTDYAPSPDGS IRKATGAPPLPPQDWRKPGPPSFLPDLNANAAAWISP
Number of residues	757
Molecular Weight	80577.23
Theoretical pI	Not Available
GO Classification	Functions delayed rectifier potassium channel activity voltage-gated potassium channel activity Processes regulation of neurotransmitter secretion synaptic transmission protein tetramerization potassium ion transmembrane transport protein homooligomerization Components axolemma dendrite membrane neuromuscular junction neuronal cell body membrane plasma membrane voltage-gated potassium channel complex integral component of membrane axon terminus
General Function	Voltage-gated potassium channel activity
Specific Function	This protein 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.
Pfam Domain Function	Ion_trans (PF00520 ) BTB_2 (PF02214 ) Potassium_chann (PF11404 )
Transmembrane Regions	291-309 351-370 380-398 412-434 448-469 518-539
GenBank Protein ID	Not Available
UniProtKB ID	Q14003
UniProtKB Entry Name	KCNC3_HUMAN
Cellular Location	Cell membrane
Gene sequence	>lcl\|BSEQ0019628\|Potassium voltage-gated channel subfamily C member 3 (KCNC3) ATGCTGAGCTCAGTCTGCGTCTCGTCCTTCCGCGGGCGCCAGGGGGCCAGCAAGCAGCAG CCGGCGCCACCGCCGCAGCCGCCCGAGTCCCCGCCGCCGCCACCGCTGCCGCCGCAGCAG CAGCAGCCTGCGCAGCCCGGCCCCGCCGCGTCCCCGGCGGGCCCCCCGGCACCCCGCGGG CCCGGGGACCGGCGCGCCGAGCCATGCCCCGGGCTGCCGGCGGCGGCCATGGGGCGGCAC GGCGGCGGCGGTGGCGACAGCGGCAAGATCGTGATCAACGTGGGCGGCGTGCGCCATGAG ACGTACCGCTCGACGCTGCGCACCCTGCCGGGGACGCGGCTGGCCGGCCTGACGGAGCCC GAGGCGGCGGCACGCTTCGACTACGACCCGGGCGCCGACGAGTTCTTCTTTGACCGGCAC CCGGGAGTCTTCGCGTACGTGCTCAACTACTACCGCACCGGCAAGCTGCACTGCCCAGCC GACGTGTGCGGGCCCCTGTTTGAGGAGGAGCTCGGCTTCTGGGGCATCGACGAGACCGAC GTGGAGGCCTGCTGCTGGATGACCTACCGGCAGCATCGCGACGCTGAGGAGGCGCTCGAC TCCTTCGAGGCGCCCGACCCCGCGGGCGCCGCCAACGCCGCCAACGCCGCAGGCGCCCAC GACGGAGGCCTGGACGACGAGGCGGGCGCGGGCGGCGGCGGCCTGGACGGAGCGGGCGGC GAGCTCAAGCGCCTCTGCTTCCAGGACGCGGGCGGCGGCGCCGGGGGGCCGCCAGGGGGC GCGGGCGGCGCGGGCGGCACATGGTGGCGCCGCTGGCAGCCCCGCGTGTGGGCGCTCTTC GAGGACCCCTACTCGTCGCGGGCTGCCAGGTATGTGGCCTTCGCCTCCCTCTTCTTCATC CTCATCTCCATCACCACCTTCTGCCTGGAAACCCATGAGGGCTTCATCCATATTAGCAAC AAGACGGTGACCCAGGCCTCCCCGATCCCCGGGGCACCTCCGGAGAACATCACCAACGTG GAGGTGGAGACGGAGCCCTTCCTGACCTACGTGGAGGGGGTGTGCGTGGTCTGGTTCACC TTCGAGTTCCTCATGCGCATCACCTTCTGCCCAGACAAGGTGGAGTTTCTTAAAAGCAGC CTCAACATCATCGACTGTGTGGCCATCCTGCCCTTCTATCTCGAGGTGGGCCTCTCGGGC CTCAGCTCCAAGGCCGCCAAAGACGTGCTGGGCTTCCTGCGGGTGGTCCGCTTCGTCCGC ATCCTGCGCATCTTCAAGCTGACCCGGCACTTCGTGGGGCTGCGCGTGCTGGGACACACG CTCCGCGCCAGCACCAACGAGTTCCTGCTGCTCATCATCTTCCTGGCCCTGGGGGTGCTC ATCTTCGCCACCATGATTTACTACGCTGAGCGCATTGGCGCCGACCCCGATGACATCCTG GGCTCCAACCACACCTACTTCAAGAACATCCCCATTGGCTTCTGGTGGGCTGTGGTCACC ATGACGACCCTGGGCTATGGAGACATGTACCCCAAGACGTGGTCGGGGATGCTGGTCGGG GCGCTGTGTGCCCTGGCGGGGGTGCTGACCATCGCCATGCCTGTGCCCGTCATTGTCAAC AACTTTGGCATGTACTATTCGCTGGCCATGGCCAAGCAGAAGCTGCCCAAGAAGAAGAAC AAACACATCCCCCGGCCCCCGCAACCGGGCTCGCCCAACTACTGCAAGCCTGACCCACCC CCGCCACCCCCGCCCCACCCGCACCACGGCAGCGGGGGCATCAGCCCGCCGCCACCCATC ACCCCACCCTCCATGGGGGTGACTGTGGCCGGGGCCTACCCAGCGGGGCCCCACACGCAC CCCGGGCTGCTCAGGGGGGGAGCGGGTGGGCTGGGGATCATGGGGCTGCCTCCTCTGCCA GCCCCCGGCGAGCCTTGCCCGTTGGCTCAGGAGGAGGTGATTGAGATCAACCGGGCAGAT CCTCGCCCCAATGGGGATCCGGCAGCAGCTGCGCTTGCCCACGAGGACTGCCCAGCCATT GACCAGCCTGCCATGTCCCCGGAAGACAAGAGCCCCATCACGCCTGGAAGCCGTGGCCGC TATAGCCGGGACCGAGCCTGCTTCCTCCTCACCGACTATGCCCCTTCCCCTGATGGCTCC ATCCGAAAAGCCACTGGTGCTCCCCCACTGCCCCCCCAAGACTGGCGTAAGCCAGGCCCC CCAAGCTTCTTGCCCGACCTCAACGCCAACGCCGCGGCCTGGATATCCCCCTAG
GenBank Gene ID	Not Available
GeneCard ID	Not Available
GenAtlas ID	Not Available
HGNC ID	HGNC:6235
Chromosome Location	19
Locus	Not Available
References	Rae JL, Shepard AR: Kv3.3 potassium channels in lens epithelium and corneal endothelium. Exp Eye Res. 2000 Mar;70(3):339-48. 10712820 Grimwood J, Gordon LA, Olsen A, Terry A, Schmutz J, Lamerdin J, Hellsten U, Goodstein D, Couronne O, Tran-Gyamfi M, Aerts A, Altherr M, Ashworth L, Bajorek E, Black S, Branscomb E, Caenepeel S, Carrano A, Caoile C, Chan YM, Christensen M, Cleland CA, Copeland A, Dalin E, Dehal P, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Garcia C, Georgescu AM, Glavina T, Gomez M, Gonzales E, Groza M, Hammon N, Hawkins T, Haydu L, Ho I, Huang W, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Larionov V, Leem SH, Lopez F, Lou Y, Lowry S, Malfatti S, Martinez D, McCready P, Medina C, Morgan J, Nelson K, Nolan M, Ovcharenko I, Pitluck S, Pollard M, Popkie AP, Predki P, Quan G, Ramirez L, Rash S, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, She X, Smith D, Slezak T, Solovyev V, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wagner M, Wheeler J, Wu K, Xie G, Yang J, Dubchak I, Furey TS, DeJong P, Dickson M, Gordon D, Eichler EE, Pennacchio LA, Richardson P, Stubbs L, Rokhsar DS, Myers RM, Rubin EM, Lucas SM: The DNA sequence and biology of human chromosome 19. Nature. 2004 Apr 1;428(6982):529-35. 15057824 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 Gallego-Iradi C, Bickford JS, Khare S, Hall A, Nick JA, Salmasinia D, Wawrowsky K, Bannykh S, Huynh DP, Rincon-Limas DE, Pulst SM, Nick HS, Fernandez-Funez P, Waters MF: KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking. Neurobiol Dis. 2014 Nov;71:270-9. doi: 10.1016/j.nbd.2014.08.020. Epub 2014 Aug 22. 25152487 Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Muller U, Durr A, Brice A, Papazian DM, Pulst SM: Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet. 2006 Apr;38(4):447-51. Epub 2006 Feb 26. 16501573 Figueroa KP, Minassian NA, Stevanin G, Waters M, Garibyan V, Forlani S, Strzelczyk A, Burk K, Brice A, Durr A, Papazian DM, Pulst SM: KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. Hum Mutat. 2010 Feb;31(2):191-6. doi: 10.1002/humu.21165. 19953606 Figueroa KP, Waters MF, Garibyan V, Bird TD, Gomez CM, Ranum LP, Minassian NA, Papazian DM, Pulst SM: Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PLoS One. 2011 Mar 29;6(3):e17811. doi: 10.1371/journal.pone.0017811. 21479265 Duarri A, Nibbeling EA, Fokkens MR, Meijer M, Boerrigter M, Verschuuren-Bemelmans CC, Kremer BP, van de Warrenburg BP, Dooijes D, Boddeke E, Sinke RJ, Verbeek DS: Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases. PLoS One. 2015 Mar 10;10(3):e0116599. doi: 10.1371/journal.pone.0116599. eCollection 2015. 25756792