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FLASH GENE
Symbol KCNA1 contributors: mct/npt - updated : 06-07-2016
HGNC name potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
HGNC id 6218
Corresponding disease
EA1 episodic ataxia, type 1
HMG hypomagnesemia
Location 12p13.32      Physical location : 5.019.072 - 5.027.420
Synonym name
  • voltage-gated potassium channel subunit Kv1.1
  • voltage-gated K(+) channel HuKI
  • voltage-gated potassium channel HBK1
    • Synonym symbol(s) HUK1, KV1.1, MBK1, RBK1, CIK1, AEMK, EA1, HBK1, MGC126782, MGC138385
    DNA
    TYPE functioning gene
    STRUCTURE 8.35 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map pter - KCNA6 - KCNA1 - KCNA5 - cen
    Authors Albrecht (96)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 7983 56 495 - Curran (1992)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial    
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six putative membrane-spanning domains
  • an hydrophobic pore including the P domain with the K+ channel signature
  • TM domains 5 and 6, sensitive to changes in membrane potential
    • mono polymer tetramer , complex
    HOMOLOGY
    interspecies homolog to murine Kv1.1
    homolog to Drosophila shaker-related subfamily
    Homologene
    FAMILY
  • potassium channel family
  • a (shaker) subfamily
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text intracytoplasmic N and C termini
    basic FUNCTION
  • mediating the voltage-dependent potassium ion permeability of excitable membranes
  • assuming opened or closed conformations in response to the voltage difference across the membrane
  • KCNA1, KCNA2 plays an essential role in the initiation and shaping of action potentials, influencing action potential firing patterns and controlling neuronal excitability
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • tetramer forming a complex through its cytoplasmic segment T1 facing the membrane pore with four beta subunits forming the associated cytoplasmic auxiliary subunits
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associating with the N terminus region of alpha subunit
  • myelin regulates both trafficking and activity of KCNA1, KCNA2 channels along hippocampal axons through CNTN2
  • ANK3 was identified as a binding partner of KCNA1 and was enriched in isolated distal convoluted tubules as compared to whole kidney
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EA1 , HMG
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • KCNA1 and UNC5D promoter hypermethylation holds diagnostic biomarker potential in patients with early colorectal cancer
    • Therapy target
    ANIMAL & CELL MODELS
  • Kcna1, Kcna2 knockout mice both have seizures beginning early in development