Property Summary

NCBI Gene PubMed Count 25
PubMed Score 260.85
PubTator Score 108.25

Knowledge Summary

Patent (9,049)

Expression

  Differential Expression (11)

Disease log2 FC p
astrocytic glioma -2.200 8.2e-03
posterior fossa group B ependymoma -4.100 2.0e-11
glioblastoma -3.600 3.6e-05
medulloblastoma -2.300 1.2e-04
atypical teratoid / rhabdoid tumor -4.600 1.3e-10
medulloblastoma, large-cell -2.600 2.4e-05
primitive neuroectodermal tumor -1.900 2.7e-02
pediatric high grade glioma -2.800 1.7e-05
pilocytic astrocytoma -1.600 6.4e-05
subependymal giant cell astrocytoma -2.305 3.3e-02
progressive supranuclear palsy 1.100 1.2e-02

Gene RIF (12)

PMID Text
26673941 KCNC1 produces a resurgent current during repolarization, ensuring enough repolarizing power to terminate each action potential. The current results from a combination of steep voltage-dependent gating kinetics and ultra-fast voltage-sensor relaxation.
25401298 A recurrent KCNC1 de novo mutation, c.959G>A (p.Arg320His), is a new major cause for progressive myoclonus epilepsy. It has a dominant-negative loss-of-function effect.
23628987 Findings show a decrease in Kv3.1b channel protein in schizophrenia neocortex, a deficit that is restored by antipsychotic drugs
23576435 KChIP4a suppresses A-type Kv4 current via ER retention and enhancement of Kv4 closed-state inactivation.
22387313 demonstrated that glycosylation was necessary for both DPP10 trafficking to the cell surface and functional interaction with Kv4 channels
21912965 Although all KV3 subunit transcripts are significantly expressed at embryonic age in whole mouse brain extracts, only KV3.1, KV3.2 and KV3.4 subunit transgenic proteins are present.
21106837 Kv3.1 channels are transported into axons by binding to kinesin I.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19332619 In the absence of potassium ion, significant N-methyl-D-glucamine (NMDG)-positive currents could be recorded from human embryonic kidney cells expressing Kv3.1 or Kv3.2b channels and Kv1.5 Arg487Tyr/Val, but not wild-type channels.
12091563 Describes localization in mouse brain of two isoforms - the longer is called b and the shorter is called a.
1432046 Describes two rat isoforms of Kv3.1, alpha is the longer one and beta is the shorter one

AA Sequence

MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHFDYDPRADEFFFDRHPGVFAHILNY      1 - 70
YRTGKLHCPADVCGPLYEEELAFWGIDETDVEPCCWMTYRQHRDAEEALDSFGGAPLDNSADDADADGPG     71 - 140
DSGDGEDELEMTKRLALSDSPDGRPGGFWRRWQPRIWALFEDPYSSRYARYVAFASLFFILVSITTFCLE    141 - 210
THERFNPIVNKTEIENVRNGTQVRYYREAETEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNI    211 - 280
IDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLLLII    281 - 350
FLALGVLIFATMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALC    351 - 420
ALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPHHSTQSDTCPL    421 - 490
AQEEILEINRAGRKPLRGMSI                                                     491 - 511
//

Text Mined References (26)

PMID Year Title
26673941 2015 Kv3.1 uses a timely resurgent K(+) current to secure action potential repolarization.
25401298 2015 A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
24143882 2014 Genome-wide association study of opioid dependence: multiple associations mapped to calcium and potassium pathways.
23734863 2013 Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface.
23628987 2014 Kv3.1-containing K(+) channels are reduced in untreated schizophrenia and normalized with antipsychotic drugs.
23576435 2013 Auxiliary KChIP4a suppresses A-type K+ current through endoplasmic reticulum (ER) retention and promoting closed-state inactivation of Kv4 channels.
22387313 2012 N-glycosylation of the mammalian dipeptidyl aminopeptidase-like protein 10 (DPP10) regulates trafficking and interaction with Kv4 channels.
22105078 2012 Alternative splicing regulates kv3.1 polarized targeting to adjust maximal spiking frequency.
21945320 2011 Biochemical engineering of the N-acyl side chain of sialic acids alters the kinetics of a glycosylated potassium channel Kv3.1.
21912965 2012 Brain expression of Kv3 subunits during development, adulthood and aging and in a murine model of Alzheimer's disease.
21106837 2010 Kinesin I transports tetramerized Kv3 channels through the axon initial segment via direct binding.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19332619 2009 Control of voltage-gated K+ channel permeability to NMDG+ by a residue at the outer pore.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16382104 2005 International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12805291 2003 Kv3.1b is a novel component of CNS nodes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12091563 2002 Differential subcellular localization of the two alternatively spliced isoforms of the Kv3.1 potassium channel subunit in brain.
12060745 2002 Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome.
8449507 1993 Localization of a highly conserved human potassium channel gene (NGK2-KV4; KCNC1) to chromosome 11p15.
7559593 1995 Assembly of voltage-gated potassium channels. Conserved hydrophilic motifs determine subfamily-specific interactions between the alpha-subunits.
1432046 1992 Expression of the mRNAs for the Kv3.1 potassium channel gene in the adult and developing rat brain.
1400413 1992 The Shaw-related potassium channel gene, Kv3.1, on human chromosome 11, encodes the type l K+ channel in T cells.