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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KCNA1 Gene

protein-coding   GIFtS: 65
GCID: GC12P005019

Potassium Voltage-Gated Channel, Shaker-Related Subfamily,...


(Previous symbol: AEMK)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Member 1
(Episodic Ataxia With Myokymia)1 2
     HUK12
AEMK1 2 5     KV1.12
Voltage-Gated K(+) Channel HuKI2 3     MBK12
Voltage-Gated Potassium Channel HBK12 3     MK12
Voltage-Gated Potassium Channel Subunit Kv1.12 3     RBK12
EA12 5     Potassium Voltage-Gated Channel Subfamily A Member 12
HBK12     

External Ids:    HGNC: 62181   Entrez Gene: 37362   Ensembl: ENSG000001112627   OMIM: 1762605   UniProtKB: Q094703   

Export aliases for KCNA1 gene to outside databases

Previous GC identifers: GC12P004758 GC12P004912 GC12P004891 GC12P004892 GC12P004894


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KCNA1 Gene:
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)

GeneCards Summary for KCNA1 Gene: 
KCNA1 (potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)) is a protein-coding gene. Diseases associated with KCNA1 include episodic ataxia type 1, and isolated autosomal dominant hypomagnesemia, glaudemans type, and among its related super-pathways are Potassium Channels and Transmission across Chemical Synapses. GO annotations related to this gene include delayed rectifier potassium channel activity and potassium ion transmembrane transporter activity. An important paralog of this gene is KCNA6.

UniProtKB/Swiss-Prot: KCNA1_HUMAN, Q09470
Function: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or
closed conformations in response to the voltage difference across the membrane, the protein forms a
potassium-selective channel through which potassium ions may pass in accordance with their electrochemical
gradient

summary for KCNA1 Gene:
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the
Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits
contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed
within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNA1 (Kv1.1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_009759.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNA1 gene promoter:
         AP-1   ATF-2   aMEF-2   c-Jun   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13.32   Ensembl cytogenetic band:  12p13.32   HGNC cytogenetic band: 12p13

KCNA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNA1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P005019:  view genomic region     (about GC identifiers)

Start:
5,019,071 bp from pter      End:
5,040,527 bp from pter
Size:
21,457 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KCNA1_HUMAN, Q09470 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily A member 1  
Size: 495 amino acids; 56466 Da
Subunit: Heterotetramer of potassium channel proteins. Binds KCNAB2 and PDZ domains of DLG1, DLG2 and DLG4 (By
similarity). Interacts with LGI1 within a complex containing LGI1, KCNA4 and KCNAB1 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Rna editing: Modified_positions=400; Note=Partially edited. RNA editing varies from 17% in the caudate nucleus to
68% in the spinal cord and to 77% in the medulla
1 PDB 3D structure from and Proteopedia for KCNA1:
2AFL (3D)    
Secondary accessions: A6NM83 Q3MIQ9

Explore the universe of human proteins at neXtProt for KCNA1: NX_Q09470

Post-translational modifications:

  • UniProtKB: Palmitoylated on Cys-243; which may be required for membrane targeting
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q09470

  • KCNA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_000208.2  
    ENSEMBL proteins: 
     ENSP00000371985  
    Reactome Protein details: Q09470
    Human Recombinant Protein Products for KCNA1: 
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    Cloud-Clone Corp. Proteins for KCNA1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex IEA--
    GO:0016020membrane ----
    GO:0016324apical plasma membrane IEA--
    GO:0030425dendrite IEA--

    KCNA1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KCN: Potassium channels
    Kv: Voltage-gated ion channels / Potassium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kv1.1 
    Voltage-gated potassium channels

    5/9 InterPro protein domains (see all 9):
     IPR004048 K_chnl_volt-dep_Kv1.1
     IPR005821 Ion_trans_dom
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR003972 K_chnl_volt-dep_Kv1

    Graphical View of Domain Structure for InterPro Entry Q09470

    ProtoNet protein and cluster: Q09470

    4 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB003091 Potassium channel signature
    IPB003972 Skaker voltage-gated K+ channel family signature
    IPB004048 Kv1.1 voltage-gated K+ channel signature


    UniProtKB/Swiss-Prot: KCNA1_HUMAN, Q09470
    Domain: The N-terminus may be important in determining the rate of inactivation of the channel while the tail may
    play a role in modulation of channel activity and/or targeting of the channel to specific subcellular
    compartments
    Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino
    acids at every third position
    Similarity: Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.1/KCNA1 sub-subfamily


    KCNA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNA1_HUMAN, Q09470
    Function: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or
    closed conformations in response to the voltage difference across the membrane, the protein forms a
    potassium-selective channel through which potassium ions may pass in accordance with their electrochemical
    gradient

         Genatlas biochemistry entry for KCNA1:
    potassium voltage-gated channel,Drosophila shaker-related subfamily,member 1 (mouse Kv1.1 homolog),localized in
    terminal and juxtaparanodal regions of neurons

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005251delayed rectifier potassium channel activity IBA--
    GO:0005267potassium channel activity TAS7842011
    GO:0005515protein binding IPI11937501
    GO:0015079potassium ion transmembrane transporter activity TAS8845167
         
    KCNA1 for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Kcna1):
     behavior/neurological  cardiovascular system  growth/size  hearing/vestibular/ear  homeostasis/metabolism 
     immune system  integument  mortality/aging  muscle  nervous system 
     vision/eye 

    KCNA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcna1tm1Tem for KCNA1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNA1 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KCNA1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters: outward current0.42
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.67
    3Synaptic transmission: ion currents
    Synaptic transmission: ion currents
    4Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for KCNA1
        Synaptic transmission- ion currents
    Potassium transporters- outward current

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNA1
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    3        Reactome Pathways for KCNA1
        Potassium Channels
    Neuronal System
    Voltage gated Potassium channels



    KCNA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNA1

    5/12 Interacting proteins for KCNA1 (Q094702, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG4P783522, 3MINT-1900376 MINT-1901225 I2D: score=4 
    KCNAB2Q133033I2D: score=2 
    CNTNAP1P783573I2D: score=1 
    DLG1Q129593I2D: score=1 
    KCNA2P163893I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006813potassium ion transport TAS8845167
    GO:0007268synaptic transmission TAS--
    GO:0009451RNA modification IEA--
    GO:0051260protein homooligomerization IEA--

    KCNA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KCNA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Compounds for KCNA1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ICA 110381KV7.2/7.3 activator; displays anticonvulsant properties[325457-99-6]
    XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]
    JNJ 303Potent and selective IKs blocker[878489-28-2]
    E-4031 dihydrochlorideKV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
    ShK-Dap22Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro[220384-25-8]

    1 HMDB Compound for KCNA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    PotassiumK+ (see all 16)7440-09-7--

    8 DrugBank Compounds for KCNA1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DesfluraneDesflurano [INN-Spanish] (see all 2)57041-67-5targetinducer17139284 19298752 17016423
    EnfluraneAnesthetic 347 (see all 7)13838-16-9targetinducer17139284 19298752 17016423
    Isoflurane-- 26675-46-7targetinducer17139284 19298752 17016423
    MethoxyfluraneMethoflurane (see all 11)76-38-0targetinducer1336744 17139284 17016423
    SevofluraneSevofluran (see all 3)28523-86-6targetinducer17139284 17016423
    AmitriptylineAmitriprolidine (see all 5)50-48-6targetinhibitor17456683
    Dalfampridine 4-Aminopyridine (see all 5)504-24-5targetantagonist16472864
    Nifedipine-- 21829-25-4targetinhibitor18096604

    3 IUPHAR Ligands for KCNA1 (Kv1.1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    α-dendrotoxin
    InhibitorNone--
    tetraethylammonium
    InhibitorNone--
    margatoxin
    InhibitorNone--

    3 Novoseek inferred chemical compound relationships for KCNA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 75.1 30 17136396 (2), 19779067 (2), 10355668 (2), 7842011 (1) (see all 24)
    tetraethylammonium 41.7 1 19779067 (1)
    calcium 16.5 1 19159951 (1)

    Search CenterWatch for drugs/clinical trials and news about KCNA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for KCNA1 gene: 
    NM_000217.2  

    Unigene Cluster for KCNA1:

    Potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
    Hs.416139  [show with all ESTs]
    Unigene Representative Sequence: NM_000217
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382545(uc001qnh.3) ENST00000541095 ENST00000543874
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    Additional mRNA sequence: 

    AK094760.1 AK124568.1 BC101733.1 BC112180.1 L02750.1 

    2 DOTS entries:

    DT.309759  DT.91710590 

    7 AceView cDNA sequences:

    AW197476 H41110 NM_000217 L02750 BX283298 BI117089 H18086 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KCNA1 expression in normal human tissues (normalized intensities)      KCNA1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCTAATAG
    KCNA1 Expression
    About this image


    KCNA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Adult Endothelial Cells Blood Brain Barrier
             postcentral gyrus   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             Schwann Precursor Cells Peripheral Nerve Domain
             spinal/ganglion/dorsal root ganglion   
     
     Blood Brain Barrier (Nervous System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Spinal Cord (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    Genevestigator expression for KCNA1

    SOURCE GeneReport for Unigene cluster: Hs.416139
        SABiosciences Expression via Pathway-Focused PCR Arrays including KCNA1: 
              Neuronal Ion Channels in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KCNA1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcna11 , 5 potassium voltage-gated channel, shaker-related subfamily, more1, 5 93.33(n)1
    98.38(a)1
      6 (61.57 cM)5
    164851  NM_010595.31  NP_034725.31 
     1266364635 
    chicken
    (Gallus gallus)
    Aves KCNA11 potassium voltage-gated channel, shaker-related subfamily, more 83.3(n)
    92.87(a)
      428101  XM_425660.2  XP_425660.2 
    lizard
    (Anolis carolinensis)
    Reptilia KCNA16
    Uncharacterized protein
    90(a)
    1 ↔ 1
    5(80804519-80806003)
    African clawed frog
    (Xenopus laevis)
    Amphibia kcna1-A2 potassium voltage-gated channel 82.09(n)    M94258.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.167302 Transcribed sequence with moderate similarity to protein more 79.91(n)    BM034895.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sh3 courtship behavior voltage-gated
    potassium channel
    74(a)     --


    ENSEMBL Gene Tree for KCNA1 (if available)
    TreeFam Gene Tree for KCNA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNA1 gene
    KCNA62  KCNC22  KCNA22  KCNC42  KCND22  KCND12  KCNA72  KCNA52  
    KCNC12  KCNA42  KCNC32  KCNA32  KCND32  KCNA102  
    18/25 SIMAP similar genes for KCNA1 using alignment to 1 protein entry:     KCNA1_HUMAN(see all similar genes):
    KCNA2    KCNA10    KCNA7    KCNA3    KCNA4    KCNA5
    KCNA6    KCNB1    KCND3    KCNB2    KCND1    KCNC2
    KCND2    KCNS2    KCNC1    KCNC4    KCNS1    KCNF1

    KCNA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/246 SNPs in KCNA1 are shown (see all 246)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0208304
    Episodic ataxia 1 (EA1)4--see VAR_0208302 F C mis40--------
    VAR_0015134
    Episodic ataxia 1 (EA1)4--see VAR_0015132 V I mis40--------
    VAR_0015094
    Episodic ataxia 1 (EA1)4--see VAR_0015092 I R mis40--------
    VAR_0208314
    Episodic ataxia 1 (EA1)4--see VAR_0208312 T M mis40--------
    VAR_0015144
    Episodic ataxia 1 (EA1)4--see VAR_0015142 V A mis40--------
    VAR_0015114
    Episodic ataxia 1 (EA1)4--see VAR_0015112 R S mis40--------
    VAR_0015104
    Episodic ataxia 1 (EA1)4--see VAR_0015102 T A mis40--------
    VAR_0208344
    Episodic ataxia 1 (EA1)4--see VAR_0208342 S I mis40--------
    VAR_0208324
    Episodic ataxia 1 (EA1)4--see VAR_0208322 E D mis40--------
    VAR_0015124
    Episodic ataxia 1 (EA1)4--see VAR_0015122 F I mis40--------

    HapMap Linkage Disequilibrium report for KCNA1 (5019071 - 5040527 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for KCNA1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv523628CNV Gain19592680


    Human Gene Mutation Database (HGMD): KCNA1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNA1
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNA1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 176260   
    OMIM disorders: 160120  
    UniProtKB/Swiss-Prot: KCNA1_HUMAN, Q09470
  • Episodic ataxia 1 (EA1) [MIM:160120]: An autosomal dominant disorder characterized by brief episodes of
    ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous,
    repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Myokymia isolated 1 (MK1) [MIM:160120]: A condition characterized by spontaneous involuntary contraction
    of muscle fiber groups that can be observed as vermiform movement of the overlying skin. Electromyography
    typically shows continuous motor unit activity with spontaneous oligo- and multiplet-discharges of high
    intraburst frequency (myokymic discharges). Isolated spontaneous muscle twitches occur in many persons and have
    no grave significance. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 19 diseases for KCNA1:    About MalaCards
    episodic ataxia type 1    isolated autosomal dominant hypomagnesemia, glaudemans type    benign neonatal seizures    myokymia 1 with or without hypomagnesemia
    myokymia    familial dyskinesia and facial myokymia    epilepsies, partial    episodic ataxia
    spinocerebellar ataxia type 6    ataxia    cerebellar ataxia    fibrous histiocytoma
    histiocytoma    spinocerebellar ataxia    medulloblastoma    myopathy
    neuropathy    sarcoma    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for KCNA1:
    Neuropathy     Myopathy     Benign neonatal seizures

    KCNA1 for disorders           About GeneDecksing

    10/12 Novoseek inferred disease relationships for KCNA1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    episodic ataxia, type 1 94.8 6 10391459 (1), 11310626 (1), 19779067 (1), 16956965 (1) (see all 6)
    neuromyotonia 82 4 12799903 (1), 15351427 (1), 16956965 (1), 17140792 (1)
    familial benign neonatal convulsions 70.3 1 11579435 (1)
    spinocerebellar ataxia type 6 69.3 1 16100538 (1)
    myoclonic epilepsy juvenile 65.2 2 16100538 (1), 17008177 (1)
    spinocerebellar ataxias 59.6 1 7762567 (1)
    epilepsy generalized 59.1 3 16100538 (1), 17008177 (1), 11579435 (1)
    epilepsy frontal lobe 56.7 2 17008177 (1), 11579435 (1)
    neurological disorders 53.7 3 7620586 (1), 10391459 (1), 9714564 (1)
    epilepsy 41.3 3 17872363 (1), 17008177 (1), 11579435 (1)

    Genetic Association Database (GAD): KCNA1
    Human Genome Epidemiology (HuGE) Navigator: KCNA1 (3 documents)

    Export disorders for KCNA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KCNA1 gene, integrated from 9 sources (see all 112):
    (articles sorted by number of sources associating them with KCNA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. (PubMed id 7842011)1, 2, 9 Browne D.L.... Litt M. (1994)
    2. Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. (PubMed id 17136396)1, 2, 9 Chen H....Hisama F.M. (2007)
    3. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. (PubMed id 10355668)1, 2, 9 Zuberi S.M....Hanna M.G. (1999)
    4. Three novel KCNA1 mutations in episodic ataxia type I families. (PubMed id 9600245)1, 2, 9 Scheffer H.... Buys C.H.C.M. (1998)
    5. Molecular cloning, characterization, and genomic localization of a human potassium channel gene. (PubMed id 1349297)1, 3, 9 Curran M.E.... Keating M.T. (1992)
    6. Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1. (PubMed id 8871592)1, 2, 9 Comu S.... Narayanan V. (1996)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    8. International Union of Pharmacology. LIII. Nomenclatu re and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (2005)
    9. The human Kv1.1 channel is palmitoylated, modulating voltage sensing: Identification of a palmitoylation consensus sequence. (PubMed id 15837928)1, 2 Gubitosi-Klug R.A.... Gross R.W. (2005)
    10. A novel mutation in KCNA1 causes episodic ataxia without myokymia. (PubMed id 15532032)1, 2 Lee H.... Nelson S.F. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3736 HGNC: 6218 AceView: KCNA1 Ensembl:ENSG00000111262 euGenes: HUgn3736
    ECgene: KCNA1 H-InvDB: KCNA1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KCNA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNA1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KCNA1 gene:
    Search GeneIP for patents involving KCNA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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