Property Summary

NCBI Gene PubMed Count 64
Grant Count 121
R01 Count 69
Funding $14,919,938.12
PubMed Score 365.52
PubTator Score 306.36

Knowledge Summary

Patent (8,121)

Expression

  Differential Expression (11)

Disease log2 FC p
astrocytic glioma -2.600 0.001
ependymoma -3.800 0.000
oligodendroglioma -2.300 0.004
glioblastoma -3.300 0.000
atypical teratoid / rhabdoid tumor -3.900 0.000
medulloblastoma, large-cell -2.600 0.000
primitive neuroectodermal tumor -4.300 0.000
pediatric high grade glioma -3.000 0.000
pilocytic astrocytoma -2.200 0.000
sonic hedgehog group medulloblastoma -2.800 0.002
invasive ductal carcinoma -1.657 0.005

Synonym

Accession Q09470 A6NM83 Q3MIQ9
Symbols EA1
MK1
AEMK
HBK1
HUK1
MBK1
RBK1
KV1.1

Gene

PDB

2AFL  

Gene RIF (33)

PMID Text
26395884 KCNA1 mutations should be considered in patients of all ages with episodic neurological phenotypes, even when ataxia is not present.
26162324 These findings provide evidence of an intrinsic cardiac role of Kv1.1 channels and indicate that they may contribute to atrial repolarization and atrial fibrillation susceptibility.
25100718 Fine-tuning of Kv1.1 surface expression by RNA editing might contribute to the complexity of neuronal Kv channel regulation.
24782544 Using mutagenesis and analysis of gating currents from gating pore mutations in the Shaker Kv channel, we identified statistically highly significant correlations between VSD function and physicochemical properties of gating pore residues.
24372310 The combination of copy number variant and SNPs in KCNA1 (and SCN1A) genes increased the risk for both epilepsy and premature death.
24275721 Novel mutations in KCNA1 genes are associated with episodic ataxia type 1.
23349320 New mutations (R167M, C185W and I407M) were identified in three out of the four families. When expressed in human embryonic kidney cells, all three new mutations resulted in a loss of K(v)1.1 channel function.
22609616 characterization of mutations in the potassium channel Kv1.1
22158511 NRG1 increased the intrinsic excitability of FS-PV interneurons which was mediated by increasing the near-threshold responsiveness and decreasing the voltage threshold for action potentials through Kv1.1
21847110 Editing of K(V)1.1 channel mRNAs disrupts binding of the N-terminus tip at the intracellular cavity.
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AA Sequence

MTVMSGENVDEASAAPGHPQDGSYPRQADHDDHECCERVVINISGLRFETQLKTLAQFPNTLLGNPKKRM      1 - 70
RYFDPLRNEYFFDRNRPSFDAILYYYQSGGRLRRPVNVPLDMFSEEIKFYELGEEAMEKFREDEGFIKEE     71 - 140
ERPLPEKEYQRQVWLLFEYPESSGPARVIAIVSVMVILISIVIFCLETLPELKDDKDFTGTVHRIDNTTV    141 - 210
IYNSNIFTDPFFIVETLCIIWFSFELVVRFFACPSKTDFFKNIMNFIDIVAIIPYFITLGTEIAEQEGNQ    211 - 280
KGEQATSLAILRVIRLVRVFRIFKLSRHSKGLQILGQTLKASMRELGLLIFFLFIGVILFSSAVYFAEAE    281 - 350
EAESHFSSIPDAFWWAVVSMTTVGYGDMYPVTIGGKIVGSLCAIAGVLTIALPVPVIVSNFNYFYHRETE    351 - 420
GEEQAQLLHVSSPNLASDSDLSRRSSSTMSKSEYMEIEEDMNNSIAHYRQVNIRTANCTTANQNCVNKSK    421 - 490
LLTDV                                                                     491 - 495
//

Text Mined References (68)

PMID Year Title
27619418 2016 Pore size matters for potassium channel conductance.
26395884 2016 Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
26162324 2015 Expression and function of Kv1.1 potassium channels in human atria from patients with atrial fibrillation.
25100718 2014 RNA editing in the central cavity as a mechanism to regulate surface expression of the voltage-gated potassium channel Kv1.1.
24782544 2014 Moving gating charges through the gating pore in a Kv channel voltage sensor.
24372310 2014 High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.
24275721 2014 Genetics of dizziness: cerebellar and vestibular disorders.
23903368 2014 Ankyrin-3 is a novel binding partner of the voltage-gated potassium channel Kv1.1 implicated in renal magnesium handling.
23774215 2013 Potassium channel KCNA1 modulates oncogene-induced senescence and transformation.
23349320 2013 Clinical, genetic, neurophysiological and functional study of new mutations in episodic ataxia type 1.
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