Property Summary

NCBI Gene PubMed Count 64
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 1.1e-03
ependymoma -3.800 6.2e-20
oligodendroglioma -2.300 3.9e-03
glioblastoma -3.300 2.3e-05
atypical teratoid / rhabdoid tumor -3.900 1.9e-12
medulloblastoma, large-cell -2.600 7.1e-05
primitive neuroectodermal tumor -4.300 7.3e-06
pediatric high grade glioma -3.000 5.0e-06
pilocytic astrocytoma -2.200 3.0e-04
sonic hedgehog group medulloblastoma -2.800 1.8e-03
invasive ductal carcinoma -1.657 4.8e-03

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.
21827920 This study suggested that kcna1 missense mutation have been related to Episodic ataxias 1.
21483673 Kv1.1 channels are expressed in the beta-cells of several species
21307345 Data suggest that episodic ataxia type 1 mutations affect fast inactivation of Kv1.1/1.4 channels by a reduction in either subunit surface expression or altered affinity for the inactivation domain.
21106501 Studies of nerve excitability can identify K(v)1.1 dysfunction in patients with episodic ataxia type 1
20823417 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.
20660867 The occurrence of epilepsy in 1 of 2 families with the F414S mutation suggests an interplay of KCNA1 with other genetic factors
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19903818 An asparagine at position 255 in Kv1.1 is required for normal voltage dependence and kinetics of channel gating.
19307729 studied a family with isolated autosomal dominant hypomagnesemia and used a positional cloning approach to identify an N255D mutation in KCNA1
19205071 This study suggested that KCNA1 mutations are associated with a broader clinical phenotype, which may include persistent cerebellar dysfunction and cognitive delay.
19202350 Contribution of the central hydrophobic residue in the PXP motif of voltage-dependent K+ channels, KCNA1, to S6 flexibility and gating properties.
18926884 A novel missense mutation (F414C) KCNA1 identified in an Italian family affected by episodic ataxia type 1.
18474843 The spectrum of neurologic manifestations and neoplasms associated with voltage-gated potassium channel (VGKC) autoimmunity is broader than previously recognized
17912752 This study identified a novel 3-nucleotide deletion mutation in KCNA1 in the episodic ataxia with paroxysmal dyspnea.
17136396 Myokymia is an autosomal dominant trait caused by mutations in KCNA1, encoding a voltage-gated potassium channel.
15837928 Results identify palmitoylation as a mechanism for K(+) channel interactions with plasma membrane lipids contributing to electric field-induced conformational alterations.
15486093 coupling between calcium influx and inactivation of voltage-gated A-type K+ channels occurs as a result of membrane depolarization and may contribute to afterhyperpolarization as negative feedback to control neuronal excitability
15351427 This study report an unusual family in which the same point mutation in the voltage-gated potassium channel gene KCNA1 resulted in markedly different clinical phenotypes.
15136567 Results describe an erbstatin (Erb) analogue as a small molecule inhibitor of the N-type inactivation in potassium channels Kv1.4 and Kv1.1+Kvbeta1.
12799903 I177N, mutation in S1 segment, alters the expression and gating properties of channel expressed in Xenopus oocytes.
11960817 missense mutation involved in episodic ataxia type 1
11773313 Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1

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.
22609616 2012 Characterization of the Kv1.1 I262T and S342I mutations associated with episodic ataxia 1 with distinct phenotypes.
22158511 2011 Neuregulin 1 regulates excitability of fast-spiking neurons through Kv1.1 and acts in epilepsy.
21847110 2011 Editing of human K(V)1.1 channel mRNAs disrupts binding of the N-terminus tip at the intracellular cavity.
21827920 2012 Episodic ataxias 1 and 2.
21483673 2011 Evidence for presence and functional effects of Kv1.1 channels in ?-cells: general survey and results from mceph/mceph mice.
21307345 2011 Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.
21106501 2010 Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.
20823417 2011 Medulloblastoma comprises four distinct molecular variants.
20660867 2010 Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.
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.
19968958 2010 Potassium channel regulator KCNRG regulates surface expression of Shaker-type potassium channels.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19912772 1990 Human potassium channel genes: Molecular cloning and functional expression.
19903818 2010 Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.
19307729 2009 A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.
19205071 2009 A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.
19202350 Contribution of the central hydrophobic residue in the PXP motif of voltage-dependent K+ channels to S6 flexibility and gating properties.
18926884 2008 A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.
18474843 2008 Clinical spectrum of voltage-gated potassium channel autoimmunity.
17917103 2007 Ionic channel function in action potential generation: current perspective.
17912752 2008 Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.
17156368 2006 Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.
17136396 2007 Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.
16541075 2006 The finished DNA sequence of human chromosome 12.
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.
15837928 2005 The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence.
15532032 2004 A novel mutation in KCNA1 causes episodic ataxia without myokymia.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15486093 2004 Functional coupling of intracellular calcium and inactivation of voltage-gated Kv1.1/Kvbeta1.1 A-type K+ channels.
15351427 2004 Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia.
15136567 2004 Disinactivation of N-type inactivation of voltage-gated K channels by an erbstatin analogue.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12944270 2003 KCNE4 is an inhibitory subunit to Kv1.1 and Kv1.3 potassium channels.
12907802 2003 Nervous system targets of RNA editing identified by comparative genomics.
12893943 2003 A conserved domain in axonal targeting of Kv1 (Shaker) voltage-gated potassium channels.
12799903 2003 Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12435606 2002 N-terminal PDZ-binding domain in Kv1 potassium channels.
12077175 2002 Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-type inactivation.
11960817 2002 Genetics of familial episodic vertigo and ataxia.
11937501 2002 Selectivity and promiscuity of the first and second PDZ domains of PSD-95 and synapse-associated protein 102.
11097830 2000 KV1.1 K(+) channels identification in human breast carcinoma cells: involvement in cell proliferation.
11086297 2001 Subunit composition and novel localization of K+ channels in spinal cord.
11026449 2000 Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
11013453 2000 Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem.
10624965 1999 Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels.
10355668 1999 A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
9600245 1998 Three novel KCNA1 mutations in episodic ataxia type I families.
8938729 1996 Differential K+ channel clustering activity of PSD-95 and SAP97, two related membrane-associated putative guanylate kinases.
8871592 1996 Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1.
8845167 1995 Episodic ataxia results from voltage-dependent potassium channels with altered functions.
8821794 1995 Characterization of a voltage-activated K-channel gene cluster on human chromosome 12p13.
8541859 1995 Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.
7842011 1994 Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
7477295 1995 Clustering of Shaker-type K+ channels by interaction with a family of membrane-associated guanylate kinases.
2128063 1990 Cloning and characterization of a cDNA encoding a human brain potassium channel.
1349297 1992 Molecular cloning, characterization, and genomic localization of a human potassium channel gene.