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KCNA1 Gene

protein-coding   GIFtS: 65
GCID: GC12P005019

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


(Previous symbol: AEMK)
  See KCNA1-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         

Export aliases for KCNA1 gene to outside databases

Previous GC identifers: GC12P004758 GC12P004912 GC12P004891 GC12P004892 GC12P004894


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 myokymia 1 with or without hypomagnesemia. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_009759.17  
Regulatory elements:
   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 Chromatin IP Primers for KCNA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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

Explore proteomics data for KCNA1 at MOPED

Post-translational modifications: 

  • Palmitoylated on Cys-243; which may be required for membrane targeting1
  • Glycosylation2 at Asn207
  • Modification sites at PhosphoSitePlus

  • See KCNA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000208.2  
    ENSEMBL proteins: 
     ENSP00000371985  
    Reactome Protein details: Q09470

    KCNA1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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

    Selected InterPro protein domains (see all 10):
     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


    Find genes that share domains with KCNA1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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
         
    Find genes that share ontologies with KCNA1           About GenesLikeMe


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

    Find genes that share phenotypes with KCNA1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Kcna1tm1Tem for KCNA1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNA1
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    hsa-miR-579 hsa-miR-520e hsa-miR-128 hsa-miR-632 hsa-miR-519a hsa-miR-502-3p hsa-miR-10b* hsa-miR-409-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KCNA1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KCNA1_HUMAN, Q09470: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    nucleus2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (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--

    Find genes that share ontologies with KCNA1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for KCNA1 About    
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters outward current0.41
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.68
    3Synaptic transmission ion currents
    Synaptic transmission ion currents
    4Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway


    Find genes that share SuperPaths with KCNA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 Reactome Pathway for KCNA1
        Voltage gated Potassium channels


        Pathway & Disease-focused RT2 Profiler PCR Arrays including KCNA1: 
              Neuronal Ion Channels in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KCNA1

    Selected Interacting proteins for KCNA1 (Q094701, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG4P783521, 2, 3EBI-8286599,EBI-80389 MINT-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 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006813potassium ion transport TAS8845167
    GO:0007268synaptic transmission TAS--
    GO:0051260protein homooligomerization IEA--
    GO:0055085transmembrane transport ----

    Find genes that share ontologies with KCNA1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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
    alpha-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)



    Find genes that share compounds with KCNA1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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 L02750 BX283298 NM_000217 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    KCNA1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 6) fully expand
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Endothelium (Cardiovascular System)
             Adult Endothelial Cells Blood Brain Barrier
     
     Skeletal Muscle (Muscoskeletal System)
             Extraocular Muscles
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
    KCNA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.416139
        Pathway & Disease-focused RT2 Profiler PCR Arrays including KCNA1: 
              Neuronal Ion Channels in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat

    Primer
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    In Situ
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    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KCNA1 gene from Selected 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_004938073.1  XP_004938130.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNA16
    potassium voltage-gated channel, shaker-related su...
    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 


    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)
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    Paralogs for KCNA1 gene
    KCNA62  KCNC22  KCNA22  KCNC42  KCND22  KCND12  KCNA72  KCNA52  
    KCNC12  KCNA42  KCNC32  KCNA32  KCND32  KCNA102  
    Selected 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

    Find genes that share paralogs with KCNA1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KCNA1 (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
    ----------
    rs289333831,2,,4
    CEpisodic ataxia 1 (EA1)4 pathogenic14952590(+) GGAAAA/C/G/
            
    GCTGT
    4 K T R M mis1 ese30--------
    rs289333811,2,,4
    CMyokymia isolated 1 (MK1)4 pathogenic14952637(+) TCTTCC/GCCTGC 2 P A mis10--------
    rs289333821,2,,4
    CMyokymia isolated 1 (MK1)4 pathogenic14952644(+) CTGCCA/CCAGCA 2 H P mis1 ese30--------
    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--------

    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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 9 diseases for KCNA1:    
    About MalaCards
    episodic ataxia type 1    myokymia 1 with or without hypomagnesemia    isolated autosomal dominant hypomagnesemia, glaudemans type    benign neonatal seizures
    myokymia    spinocerebellar ataxia type 6    paramyotonia congenita    episodic ataxia
    ataxia

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

    Find genes that share disorders with KCNA1           About GenesLikeMe

    Selected 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)
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    PubMed articles for KCNA1 gene, integrated from 10 sources (see all 113):
    (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. (Nat. Genet. 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. (Neurogenetics 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. (Brain 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. (Hum. Genet. 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. (Genomics 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. (Ann. Neurol. 1996)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (Pharmacol. Rev. 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. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    10. A novel mutation in KCNA1 causes episodic ataxia without myokymia. (PubMed id 15532032)1, 2 Lee H.... Nelson S.F. (Hum. Mutat. 2004)

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

      Query String
    PubMed
    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)
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    Entrez Gene: 3736 HGNC: 6218 AceView: KCNA1 Ensembl:ENSG00000111262 euGenes: HUgn3736
    ECgene: KCNA1 H-InvDB: KCNA1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KCNA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KCNA1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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