Potassium voltage-gated channel subfamily C member 3
Details
- Name
- Potassium voltage-gated channel subfamily C member 3
- Synonyms
- KSHIIID
- Voltage-gated potassium channel subunit Kv3.3
- Gene Name
- KCNC3
- Organism
- Humans
- 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
- Functionsdelayed rectifier potassium channel activity / voltage-gated potassium channel activityProcessespotassium ion transmembrane transport / protein homooligomerization / protein tetramerization / regulation of neurotransmitter secretion / synaptic transmissionComponentsaxolemma / axon terminus / dendrite membrane / integral component of membrane / neuromuscular junction / neuronal cell body membrane / plasma membrane / voltage-gated potassium channel complex
- 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
- Transmembrane Regions
- 291-309 351-370 380-398 412-434 448-469 518-539
- 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
- Chromosome Location
- 19
- Locus
- Not Available
- External Identifiers
Resource Link UniProtKB ID Q14003 UniProtKB Entry Name KCNC3_HUMAN HGNC ID HGNC:6235 - General References
- Rae JL, Shepard AR: Kv3.3 potassium channels in lens epithelium and corneal endothelium. Exp Eye Res. 2000 Mar;70(3):339-48. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
- 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. [Article]
Drug Relations
- Drug Relations
DrugBank ID Name Drug group Pharmacological action? Actions Details DB06637 Dalfampridine approved yes antagonist Details DB00228 Enflurane approved, investigational, vet_approved unknown inhibitoractivator Details DB01069 Promethazine approved, investigational unknown inducer Details DB01110 Miconazole approved, investigational, vet_approved unknown inhibitor Details