Kcna1

Summary

Gene Symbol: Kcna1
Description: potassium voltage-gated channel, shaker-related subfamily, member 1
Alias: AI840627, Kca1-1, Kv1.1, MBK1, Mk-1, Shak, mceph, potassium voltage-gated channel subfamily A member 1, MKI, brain potassium channel protein-1, megencephaly, voltage-gated potassium channel subunit Kv1.1
Species: mouse
Products:     Kcna1

Top Publications

  1. Wang H, Kunkel D, Schwartzkroin P, Tempel B. Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain. J Neurosci. 1994;14:4588-99 pubmed
    ..This overlapping yet differential pattern of expression and specific subcellular localization may contribute to the unique profile of excitability displayed by a particular neuron. ..
  2. Persson A, Westman E, Wang F, Khan F, Spenger C, Lavebratt C. Kv1.1 null mice have enlarged hippocampus and ventral cortex. BMC Neurosci. 2007;8:10 pubmed
    ..Mice that express a malfunctional, truncated Kv1.1 (BALB/cByJ-Kv1.1mceph/mceph) show a markedly enlarged hippocampus and ventral cortex in adulthood. To determine if mice lacking Kv1...
  3. Lavebratt C, Trifunovski A, Persson A, Wang F, Klason T, Ohman I, et al. Carbamazepine protects against megencephaly and abnormal expression of BDNF and Nogo signaling components in the mceph/mceph mouse. Neurobiol Dis. 2006;24:374-83 pubmed
    ..We investigated CBZ's effect on neural growth in megencephaly (mceph/mceph) mice lacking functional Kv1.1...
  4. Wang H, Kunkel D, Martin T, Schwartzkroin P, Tempel B. Heteromultimeric K+ channels in terminal and juxtaparanodal regions of neurons. Nature. 1993;365:75-9 pubmed
    ..These data indicate that the two polypeptides occur in subcellular regions where rapid membrane repolarization may be important and that they form heteromultimeric channels in vivo. ..
  5. Donahue L, Cook S, Johnson K, Bronson R, Davisson M. Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brain. Mamm Genome. 1996;7:871-6 pubmed
    b>Megencephaly, enlarged brain, occurs in several acquired and inherited human diseases including Sotos syndrome, Robinow syndrome, Canavan's disease, and Alexander disease...
  6. Diez M, Schweinhardt P, Petersson S, Wang F, Lavebratt C, Schalling M, et al. MRI and in situ hybridization reveal early disturbances in brain size and gene expression in the megencephalic (mceph/mceph) mouse. Eur J Neurosci. 2003;18:3218-30 pubmed
    The mouse model for megencephaly, mceph/mceph, carries a truncating deletion in the Shaker-related voltage gated potassium channel gene 1. Affected mice display neurological disturbances and motor dysfunctions...
  7. Brew H, Hallows J, Tempel B. Hyperexcitability and reduced low threshold potassium currents in auditory neurons of mice lacking the channel subunit Kv1.1. J Physiol. 2003;548:1-20 pubmed
    ..The gene Kcna1 codes for Kv1...
  8. Rho J, Szot P, Tempel B, Schwartzkroin P. Developmental seizure susceptibility of kv1.1 potassium channel knockout mice. Dev Neurosci. 1999;21:320-7 pubmed
    ..mouse has been underscored by a recent report of epilepsy occurring in a family affected by mutations in the KCNA1 locus (the human homologue of Kv1.1) which typically cause episodic ataxia and myokymia...
  9. Petersson S, Sandberg Nordqvist A, Schalling M, Lavebratt C. The megencephaly mouse has disturbances in the insulin-like growth factor (IGF) system. Brain Res Mol Brain Res. 1999;72:80-8 pubmed
    b>Megencephaly, enlarged brain, is a major sign in several human neurological diseases. The mouse model for megencephaly, mceph/mceph, has an enlarged brain and a lowered body weight...

More Information

Publications62

  1. Zhou L, Messing A, Chiu S. Determinants of excitability at transition zones in Kv1.1-deficient myelinated nerves. J Neurosci. 1999;19:5768-81 pubmed
    ..We suggest that variations in fiber geometry create sites of inherent instability that is normally stabilized by a synergism between myelin-concealed Kv1.1 and a slow, TEA-sensitive K channel. ..
  2. Herson P, Virk M, Rustay N, Bond C, Crabbe J, Adelman J, et al. A mouse model of episodic ataxia type-1. Nat Neurosci. 2003;6:378-83 pubmed
    ..The stress-induced motor dysfunction in V408A mice is similar to that of family members harboring the EA1 allele, and our findings suggest that these behavioral changes are linked to changes in GABA release. ..
  3. Zhou L, Zhang C, Messing A, Chiu S. Temperature-sensitive neuromuscular transmission in Kv1.1 null mice: role of potassium channels under the myelin sheath in young nerves. J Neurosci. 1998;18:7200-15 pubmed
    ..This paper demonstrates that under certain situations of physiological stress, the functional role of myelin-covered K channels is dramatically enhanced as the transition zone at the neuromuscular junction is approached. ..
  4. Smart S, Lopantsev V, Zhang C, Robbins C, Wang H, Chiu S, et al. Deletion of the K(V)1.1 potassium channel causes epilepsy in mice. Neuron. 1998;20:809-19 pubmed
    ..Axonal action potential conduction was altered as well in the sciatic nerve--a deficit potentially related to the pathophysiology of episodic ataxia/myokymia, a disease associated with missense mutations of the human K(V)1.1 gene. ..
  5. London B, Jeron A, Zhou J, Buckett P, Han X, Mitchell G, et al. Long QT and ventricular arrhythmias in transgenic mice expressing the N terminus and first transmembrane segment of a voltage-gated potassium channel. Proc Natl Acad Sci U S A. 1998;95:2926-31 pubmed
    ..These changes correlate with a marked decrease in the level of Kv1.5 polypeptide. Thus, overexpression of a truncated K+ channel in the heart alters native K+ channel expression and has profound effects on cardiac excitability. ..
  6. Petersson S, Persson A, Johansen J, Ingvar M, Nilsson J, Klement G, et al. Truncation of the Shaker-like voltage-gated potassium channel, Kv1.1, causes megencephaly. Eur J Neurosci. 2003;18:3231-40 pubmed
    The megencephaly mouse, mceph/mceph, displays dramatically increased brain volume and hypertrophic brain cells...
  7. Persson A, Klement G, Almgren M, Sahlholm K, Nilsson J, Petersson S, et al. A truncated Kv1.1 protein in the brain of the megencephaly mouse: expression and interaction. BMC Neurosci. 2005;6:65 pubmed
    The megencephaly mouse, mceph/mceph, is epileptic and displays a dramatically increased brain volume and neuronal count...
  8. Leonard A, Hyder S, Kolls B, Arehart E, Ng K, Veerapandiyan A, et al. Seizure predisposition after perinatal hypoxia: effects of subsequent age and of an epilepsy predisposing gene mutation. Epilepsia. 2013;54:1789-800 pubmed publisher
  9. Poliak S, Salomon D, Elhanany H, Sabanay H, Kiernan B, Pevny L, et al. Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1. J Cell Biol. 2003;162:1149-60 pubmed
  10. Bhalla T, Rosenthal J, Holmgren M, Reenan R. Control of human potassium channel inactivation by editing of a small mRNA hairpin. Nat Struct Mol Biol. 2004;11:950-6 pubmed
    ..These results suggest an ancient and key regulatory role for this residue in K(V) channels. ..
  11. Hao J, Padilla F, Dandonneau M, Lavebratt C, Lesage F, Noel J, et al. Kv1.1 channels act as mechanical brake in the senses of touch and pain. Neuron. 2013;77:899-914 pubmed publisher
    ..By balancing the activity of excitatory mechanotransducers, Kv1.1 acts as a mechanosensitive brake that regulates mechanical sensitivity of fibers associated with mechanical perception. ..
  12. Fisahn A, Lavebratt C, Canlon B. Acoustic startle hypersensitivity in Mceph mice and its effect on hippocampal excitability. Eur J Neurosci. 2011;34:1121-30 pubmed publisher
    ..underlying the increased susceptibility to acoustic startle in a mouse model homozygous for the spontaneous megencephaly (mceph) mutation, which results in a lack of the functional potassium channel Kv1.1...
  13. Ison J, Allen P. 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. J Assoc Res Otolaryngol. 2012;13:351-8 pubmed publisher
    The voltage-gated potassium channel subunit Kv1.1 encoded by the Kcna1 gene is expressed in many brainstem nuclei, and electrophysiological studies of Kcna1-null mutant (-/-) single neurons suggest that channels containing this subunit ..
  14. Clark J, Tempel B. Hyperalgesia in mice lacking the Kv1.1 potassium channel gene. Neurosci Lett. 1998;251:121-4 pubmed
    ..Morphine induced antinociception in Kv1.1 null mutant animals was blunted. These studies indicate that Kv1.1 plays an important role in nociceptive and antinociceptive signaling pathways. ..
  15. Haber D, Fearon E. The promise of cancer genetics. Lancet. 1998;351 Suppl 2:SII1-8 pubmed
  16. Choi S, Kim J, Kim T, Li H, Shin K, Lee Y, et al. Altering sphingolipid composition with aging induces contractile dysfunction of gastric smooth muscle via K(Ca) 1.1 upregulation. Aging Cell. 2015;14:982-94 pubmed publisher
    ..CerS2-null mice exhibited similar effects to aged wild-type mice; therefore, CerS2-null mouse models may be utilized for investigating the pathogenesis of aging-associated motility disorders. ..
  17. Robertson B, Owen D. Pharmacology of a cloned potassium channel from mouse brain (MK-1) expressed in CHO cells: effects of blockers and an 'inactivation peptide'. Br J Pharmacol. 1993;109:725-35 pubmed
    ..6. The block of MK-1 by the synthetic inactivation peptide was quite different in time dependence from block by internal TEA (0.4-4 mM), which probably blocks much more quickly but less potently than the peptide. ..
  18. Deal K, Lovinger D, Tamkun M. The brain Kv1.1 potassium channel: in vitro and in vivo studies on subunit assembly and posttranslational processing. J Neurosci. 1994;14:1666-76 pubmed
    ..Together these results suggest (1) heteromeric assembly of Shaker-like channels is cotranslational, and (2) N207 glycosylation of Kv1.1 occurs but is not required for subunit assembly, transport, or function. ..
  19. van Brederode J, Rho J, Cerne R, Tempel B, Spain W. Evidence of altered inhibition in layer V pyramidal neurons from neocortex of Kcna1-null mice. Neuroscience. 2001;103:921-9 pubmed
    Mice lacking the potassium channel subunit KCNA1 exhibit a severe epileptic phenotype beginning at an early postnatal age. The precise cellular physiological substrates for these seizures are unclear, as is the site of origin...
  20. Moore B, Jerry Jou C, Tatalovic M, Kaufman E, Kline D, Kunze D. The Kv1.1 null mouse, a model of sudden unexpected death in epilepsy (SUDEP). Epilepsia. 2014;55:1808-16 pubmed publisher
    ..It is notable that long-term studies that evaluate electroencephalography (EEG) and cardiorespiratory events surrounding nonfatal seizures may provide indices predictive of terminal seizure. ..
  21. Klumpp D, Farber D, Bowes C, Song E, Pinto L. The potassium channel MBK1 (Kv1.1) is expressed in the mouse retina. Cell Mol Neurobiol. 1991;11:611-22 pubmed
    ..retina, we screened mouse retinal cDNA libraries with oligonucleotide probes homologous to the mammalian K+ channel MBK1 (Kv1.1) and ligated two partial clones to produce a full-length clone with no significant differences from MBK1. 2...
  22. Karcz A, Hennig M, Robbins C, Tempel B, Rubsamen R, Kopp Scheinpflug C. Low-voltage activated Kv1.1 subunits are crucial for the processing of sound source location in the lateral superior olive in mice. J Physiol. 2011;589:1143-57 pubmed publisher
    ..1 knockout (Kcna1?/?) mice. Here, we investigate whether these differences have direct impact on IID processing by LSO neurons...
  23. Lacas Gervais S, Guo J, Strenzke N, Scarfone E, Kolpe M, Jahkel M, et al. BetaIVSigma1 spectrin stabilizes the nodes of Ranvier and axon initial segments. J Cell Biol. 2004;166:983-90 pubmed
    ..These ultrastructural changes can explain the motor and auditory neuropathies present in betaIVSigma1 -/- mice and point to the betaIVSigma1 spectrin isoform as a master-stabilizing factor of AIS/NR membranes. ..
  24. Pennington M, Harunur Rashid M, Tajhya R, Beeton C, Kuyucak S, Norton R. A C-terminally amidated analogue of ShK is a potent and selective blocker of the voltage-gated potassium channel Kv1.3. FEBS Lett. 2012;586:3996-4001 pubmed publisher
    ..The results agree well with experimental data. ..
  25. Gautier N, Glasscock E. Spontaneous seizures in Kcna1-null mice lacking voltage-gated Kv1.1 channels activate Fos expression in select limbic circuits. J Neurochem. 2015;135:157-64 pubmed publisher
    Mice lacking voltage-gated Kv1.1 channels as a result of deletion of the Kcna1 gene are an extensively utilized genetic model of human epilepsy and sudden unexpected death in epilepsy because of their frequent seizures and genotypic-..
  26. Yang S, McLemore K, Tasic B, Luo L, Jan Y, Jan L. Kv1.1-dependent control of hippocampal neuron number as revealed by mosaic analysis with double markers. J Physiol. 2012;590:2645-58 pubmed publisher
    b>Megencephaly, or mceph, is a spontaneous frame-shift mutation of the mouse Kv1.1 gene. This mceph mutation results in a truncated Kv1.1 channel ?-subunit without the channel pore domain or the voltage sensor...
  27. Glaudemans B, van der Wijst J, Scola R, Lorenzoni P, Heister A, van der Kemp A, et al. A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. J Clin Invest. 2009;119:936-42 pubmed publisher
    ..isolated autosomal dominant hypomagnesemia and used a positional cloning approach to identify an N255D mutation in KCNA1, a gene encoding the voltage-gated potassium (K+) channel Kv1.1. Kv1...
  28. Baloh R, Strickland A, Ryu E, Le N, Fahrner T, Yang M, et al. Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation. J Neurosci. 2009;29:2312-21 pubmed publisher
  29. Simeone T, Simeone K, Samson K, Kim D, Rho J. Loss of the Kv1.1 potassium channel promotes pathologic sharp waves and high frequency oscillations in in vitro hippocampal slices. Neurobiol Dis. 2013;54:68-81 pubmed publisher
    ..1 on spontaneous sharp waves (SPWs) and high frequency oscillations (HFOs). We found that Kcna1-null hippocampi generate SPWs and ripples (80-200Hz bandwidth) with a 50% increased rate of incidence and 50% ..
  30. Mishra V, Karumuri B, Gautier N, Liu R, Hutson T, Vanhoof Villalba S, et al. Scn2a deletion improves survival and brain-heart dynamics in the Kcna1-null mouse model of sudden unexpected death in epilepsy (SUDEP). Hum Mol Genet. 2017;26:2091-2103 pubmed publisher
    ..Here we evaluated heterozygous Scn2a gene deletion (Scn2a+/-) as a protective genetic modifier in the Kcna1 knockout mouse (Kcna1-/-) model of SUDEP, while searching for biomarkers of SUDEP risk embedded in ..
  31. Sosanya N, Huang P, Cacheaux L, Chen C, Nguyen K, Perrone Bizzozero N, et al. Degradation of high affinity HuD targets releases Kv1.1 mRNA from miR-129 repression by mTORC1. J Cell Biol. 2013;202:53-69 pubmed publisher
    ..1 mRNA. Hence, mTORC1 activity regulation of mRNA stability and high affinity HuD-target mRNA degradation mediates the bidirectional expression of dendritic Kv1.1 ion channels. ..
  32. Attali B, Lesage F, Ziliani P, Guillemare E, Honore E, Waldmann R, et al. Multiple mRNA isoforms encoding the mouse cardiac Kv1-5 delayed rectifier K+ channel. J Biol Chem. 1993;268:24283-9 pubmed
    ..The carboxyl-terminal truncated Kv1-5 delta 3' clone was not functional but inhibited the expression of the long isoform. ..
  33. Kim H, DiBernardo A, Sloane J, Rasband M, Solomon D, Kosaras B, et al. WAVE1 is required for oligodendrocyte morphogenesis and normal CNS myelination. J Neurosci. 2006;26:5849-59 pubmed
    ..Together, these data demonstrate a role for WAVE1 in oligodendrocyte morphogenesis and myelination. ..
  34. Begum R, Bakiri Y, Volynski K, Kullmann D. Action potential broadening in a presynaptic channelopathy. Nat Commun. 2016;7:12102 pubmed publisher
    ..Spike broadening leads to increased Ca(2+) influx and GABA release, and decreased spontaneous Purkinje cell firing. We find no evidence for developmental compensation for inherited Kv1.1 dysfunction. ..
  35. Depatie C, Muise E, Lepage P, Gros P, Vidal S. High-resolution linkage map in the proximity of the host resistance locus Cmv1. Genomics. 1997;39:154-63 pubmed
    ..This work demonstrates tight linkage between Cmv1 and genes from the natural killer complex (NKC), such as Nkrp1 and Ly49A, suggesting that Cmv1 may represent an NK cell recognition structure encoded in the NKC region. ..
  36. Hoopengardner B, Bhalla T, Staber C, Reenan R. Nervous system targets of RNA editing identified by comparative genomics. Science. 2003;301:832-6 pubmed
    ..These results point to a pivotal role for RNA editing in nervous system function. ..
  37. Chandy K, Williams C, Spencer R, Aguilar B, Ghanshani S, Tempel B, et al. A family of three mouse potassium channel genes with intronless coding regions. Science. 1990;247:973-5 pubmed
    ..channels in mammalian cells, mouse genomic clones have been isolated with a potassium channel complementary DNA, MBK1, that is homologous to the Drosophila potassium channel gene, Shaker...
  38. Almassy J, Begenisich T. The LRRC26 protein selectively alters the efficacy of BK channel activators. Mol Pharmacol. 2012;81:21-30 pubmed publisher
    ..Thus, the LRRC26 BK channel accessory protein selectively alters the pharmacology of BK channels. ..
  39. Fuchs P, Zörer M, Reipert S, Rezniczek G, Propst F, Walko G, et al. Targeted inactivation of a developmentally regulated neural plectin isoform (plectin 1c) in mice leads to reduced motor nerve conduction velocity. J Biol Chem. 2009;284:26502-9 pubmed publisher
    ..This is the first report demonstrating an important role of plectin in a major nerve function. ..
  40. Almgren M, Persson A, Fenghua C, Witgen B, Schalling M, Nyengaard J, et al. Lack of potassium channel induces proliferation and survival causing increased neurogenesis and two-fold hippocampus enlargement. Hippocampus. 2007;17:292-304 pubmed
    The megencephaly mice show dramatic progressive increase in brain size and seizures. The overgrowth affects primarily the hippocampus and ventral cortex...
  41. Kopp Scheinpflug C, Fuchs K, Lippe W, Tempel B, Rubsamen R. Decreased temporal precision of auditory signaling in Kcna1-null mice: an electrophysiological study in vivo. J Neurosci. 2003;23:9199-207 pubmed
    The voltage-gated potassium (Kv) channel subunit Kv1.1, encoded by the Kcna1 gene, is expressed strongly in the ventral cochlear nucleus (VCN) and the medial nucleus of the trapezoid body (MNTB) of the auditory pathway...
  42. Jiang X, Zhang Y, Clark J, Tempel B, Nicol G. Prostaglandin E2 inhibits the potassium current in sensory neurons from hyperalgesic Kv1.1 knockout mice. Neuroscience. 2003;119:65-72 pubmed
    ..1, displayed lowered thresholds to thermal stimulation in behavioral assays of pain perception, i.e. the Kcna1-null mice were hyperalgesic...
  43. Sutherland M, Williams S, Abedi R, Overbeek P, Pfaffinger P, Noebels J. Overexpression of a Shaker-type potassium channel in mammalian central nervous system dysregulates native potassium channel gene expression. Proc Natl Acad Sci U S A. 1999;96:2451-5 pubmed
    ..These data suggest that an increase in K+ channel gene dosage leads to dysregulation of normal K+ channel gene expression, and it may underlie a mechanism contributing to the pathogenesis of human aneuploidies such as Down syndrome. ..
  44. Yen C, Hohman C, Elliott R. Mapping and characterization of three YAC clones containing TTAGGG arrays. Mamm Genome. 1997;8:775-7 pubmed
  45. Chiu S, Scherer S, Blonski M, Kang S, Messing A. Axons regulate the expression of Shaker-like potassium channel genes in Schwann cells in peripheral nerve. Glia. 1994;12:1-11 pubmed
    ..We suggest that MK1 and MK2 mRNA are expressed in high levels only in myelinating Schwann cells and that these Shaker-like potassium channel genes have specialized roles in these cells. ..
  46. Brew H, Gittelman J, Silverstein R, Hanks T, Demas V, Robinson L, et al. Seizures and reduced life span in mice lacking the potassium channel subunit Kv1.2, but hypoexcitability and enlarged Kv1 currents in auditory neurons. J Neurophysiol. 2007;98:1501-25 pubmed
    Genes Kcna1 and Kcna2 code for the voltage-dependent potassium channel subunits Kv1.1 and Kv1.2, which are coexpressed in large axons and commonly present within the same tetramers...
  47. Zhang G, Edmundson M, Telezhkin V, Gu Y, Wei X, Kemp P, et al. The Role of Kv1.2 Channel in Electrotaxis Cell Migration. J Cell Physiol. 2016;231:1375-84 pubmed publisher
    ..The described mechanism suggests a potential application of EF which may improve therapeutic performance in curing injuries of neuronal and/or cardiac tissue repair, post operational therapy, and various degenerative syndromes. ..
  48. Frangeul L, Kehayas V, Sanchez Mut J, Fièvre S, Krishna K K, Pouchelon G, et al. Input-dependent regulation of excitability controls dendritic maturation in somatosensory thalamocortical neurons. Nat Commun. 2017;8:2015 pubmed publisher
    ..Together, these results reveal an input-dependent control over neuronal excitability and dendritic complexity in the development and plasticity of sensory pathways. ..
  49. Glasscock E, Qian J, Kole M, Noebels J. Transcompartmental reversal of single fibre hyperexcitability in juxtaparanodal Kv1.1-deficient vagus nerve axons by activation of nodal KCNQ channels. J Physiol. 2012;590:3913-26 pubmed publisher
    ..b>Kcna1-null mice lacking these channels exhibit neurocardiac dysfunction manifested by atropine-sensitive ..
  50. Oertel D, Shatadal S, Cao X. In the ventral cochlear nucleus Kv1.1 and subunits of HCN1 are colocalized at surfaces of neurons that have low-voltage-activated and hyperpolarization-activated conductances. Neuroscience. 2008;154:77-86 pubmed publisher
    ..The cytoplasm of large cells and axonal paranodes contained immunofluorescent labeling for only Kv1.1. ..
  51. Glasscock E, Qian J, Yoo J, Noebels J. Masking epilepsy by combining two epilepsy genes. Nat Neurosci. 2007;10:1554-8 pubmed
    ..We found that increasing membrane excitability by removing Shaker-like K(+) channels, which are encoded by the Kcna1 gene, masked the absence epilepsy caused by a P/Q-type Ca(2+) channelopathy due to a missense mutation in the ..
  52. Bosma M, Allen M, Martin T, Tempel B. PKA-dependent regulation of mKv1.1, a mouse Shaker-like potassium channel gene, when stably expressed in CHO cells. J Neurosci. 1993;13:5242-50 pubmed
    ..These results suggest that PKA can regulate mKv1.1 channel expression by changing steady-state levels of RNA and by other posttranscriptional mechanisms. ..
  53. Cao X, Oertel D. Genetic perturbations suggest a role of the resting potential in regulating the expression of the ion channels of the KCNA and HCN families in octopus cells of the ventral cochlear nucleus. Hear Res. 2017;345:57-68 pubmed publisher