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Potassium voltage-gated channel, shaker-related subfamily, member 1

Kv1.1, KCNA1
This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, CACNA1A, HAD, Kv1.6, SF-1
Papers on Kv1.1
Conformational dynamics of shaker-type kv1.1 ion channel in open, closed, and two mutated States.
New
Seal et al., Kalyani, India. In J Membr Biol, 30 Apr 2015
The dynamic properties of shaker-type Kv1.1 ion channel in its open, closed, & two mutated (E325D & V408A) states embedded in DPPC membrane have been investigated using all-atom force field-based MD simulation.
A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.
New
Brais et al., Montréal, Canada. In Neurogenetics, Feb 2015
Mutations in KCNA1 and CACNA1A account for the majority of EA cases worldwide.
First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes.
New
Blackwell et al., Australia. In Plos One, Dec 2014
Additional hits occurred in genes affecting pancreatic (KCNJ6, KCNA1) and/or GABA (GABRR1, KCNA1) functions.
A patient with medulloblastoma in its early developmental stage.
New
Kuratsu et al., In J Neurosurg Pediatr, Dec 2014
It has been suggested that medulloblastomas be categorized into 4 distinct molecular subgroups- WNT (DKK1), SHH (SFRP1), Group 3 (NPR3), or Group 4 (KCNA1)-since each subgroup is distinct and there is no overlap.
A novel KCNA1 mutation causing episodic ataxia type I.
New
Drost et al., Nijmegen, Netherlands. In Muscle Nerve, Aug 2014
We describe the clinical phenotype of a novel de novo KNCA1 mutation, and functional characterization of the effects of the mutation on Kv1.1 channel function.
Genetics of dizziness: cerebellar and vestibular disorders.
Review
New
Lopez-Escamez et al., Almería, Spain. In Curr Opin Neurol, Feb 2014
Novel mutations in KCNA1 and CACNA1A genes are associated with episodic ataxia type 1 and type 2, respectively.
Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expression.
Vincent et al., Toronto, Canada. In Plos One, 2013
Both isoforms up-regulated GABRA2, KCNA1, FOXG1 and FOXP2.
Differences in human cortical gene expression match the temporal properties of large-scale functional networks.
Mesmoudi et al., Paris, France. In Plos One, 2013
Ionic channels and release-related proteins more expressed in the VSA ring favor temporal precision of fast evoked neural transmission (Sodium channels SCNA1, SCNB1 potassium channel KCNA1, calcium channel CACNA2D2, Synaptotagmin SYT2, Complexin CPLX1, Synaptobrevin VAMP1).
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
Klopstock et al., Perugia, Italy. In Front Physiol, 2013
A single nucleotide change in KCNA1 (c.555C>G) was identified that changes a highly conserved residue (p.C185W) in the first transmembrane segment of the voltage-gated K(+) channel Kv1.1.
Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes.
GeneRIF
Thornhill et al., United States. In Arch Biochem Biophys, 2012
characterization of mutations in the potassium channel Kv1.1
Voltage-gated potassium channels and the diversity of electrical signalling.
Review
Jan et al., San Francisco, United States. In J Physiol, 2012
As one indication of the evolutionary conservation of Kv1 channel functions, mutations of the Shaker potassium channel gene in Drosophila and the KCNA1 gene for its mammalian orthologue, Kv1.1, cause hyperexcitability near axon branch points and nerve terminals, thereby leading to uncontrolled movements and recapitulating the episodic ataxia-1 (EA1) symptoms in human patients.
Deficits in responding to brief noise offsets in Kcna1 -/- mice reveal a contribution of this gene to precise temporal processing seen previously only for stimulus onsets.
GeneRIF
Allen et al., Rochester, United States. In J Assoc Res Otolaryngol, 2012
mechanisms for processing acoustic transients less effective in Kcna1 -/- mice
Kv1.1 and Kv1.2: similar channels, different seizure models.
GeneRIF
Tempel et al., Seattle, United States. In Epilepsia, 2012
Overlapping patterns with differential expression and precise localization of Kv1.1 and Kv1.2 channels targeted to specialized subcellular compartments contribute to distinctive patterns of neuronal excitability --REVIEW
Kcna1 gene deletion lowers the behavioral sensitivity of mice to small changes in sound location and increases asynchronous brainstem auditory evoked potentials but does not affect hearing thresholds.
GeneRIF
Ison et al., Rochester, United States. In J Neurosci, 2012
Suprathreshold auditory evoked potentials coupled with their normal thresholds suggests that a disruption in central neural processing in Kcna1 null mice and not peripheral hearing loss is responsible for their poor sound localization.
Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures.
GeneRIF
Mashimo et al., Kyoto, Japan. In Brain Res, 2012
This study demonistrated that Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures.
Episodic ataxias 1 and 2.
Review
GeneRIF
Baloh, Los Angeles, United States. In Handb Clin Neurol, 2011
This study suggested that kcna1 missense mutation have been related to Episodic ataxias 1.
[Hereditary episodic ataxia].
Review
Tournier-Lasserve et al., Paris, France. In Rev Neurol (paris), 2011
EA1 is caused by mutations of the KCNA1 gene coding for the voltage-gated potassium channel Kv1.1.
Medulloblastoma comprises four distinct molecular variants.
Impact
GeneRIF
Taylor et al., Toronto, Canada. In J Clin Oncol, 2011
integrative genomics approach to a large cohort of medulloblastomas has identified four disparate subgroups (KCNA1)with distinct demographics, clinical presentation, transcriptional profiles, genetic abnormalities, and clinical outcome.
[Genetics components in patients with temporal lobe epilepsy].
Review
Alonso-Cerezo et al., Madrid, Spain. In Rev Neurol, 2009
We have reviewed the following genes; LGI1, PDYN (prodynorphin), interleucine 1beta, PRPN (prion protein), ApoE (apolipoprotein E), GABBR1, SCN1A, SCN1B, KCNA1, KCND2.
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
Impact
Litt et al., Portland, United States. In Nat Genet, 1994
Linkage studies in four such families suggested localization of an EA/myokymia gene near the voltage gated K+ channel gene, KCNA1 (Kv1.1), on chromosome 12p.
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