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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
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