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FLASH GENE
Symbol KCNC1 contributors: mct - updated : 16-09-2020
HGNC name potassium voltage-gated channel, Shaw-related subfamily, member 1
HGNC id 6233
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six putative membrane-spanning domains
  • an hydrophobic pore including the P domain with the K+ channel signature, flanked by TM domains 5 and 6, sensitive to changes in membrane potential
  • the tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments
    • HOMOLOGY
    interspecies homolog to murine Kv3.1
    homolog to Drosophila Shaw-related family
    Homologene
    FAMILY potassium channel family, c (shaw) subfamily
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • mediating the voltage-dependent potassium ion permeability of excitable membranes
  • in association with OSP/claudin-11, plays a significant role in Oligodendrocyte progenitor cell proliferation and migration and myelination of axons
  • KCNIP3 and KCNC1 channels are expressed and may play a significant role in Müller cell function in the retina
  • stimulate adult neural precursor cell proliferation and neuronal differentiation
  • encodes the Kv3.1 potassium ion channel responsible for the rapid repolarization of the membrane potential following action potential firing in fast spiking GABAergic interneurons (FSI), thereby enabling high firing frequency
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component heteromultimer with KCNG3, KCNG4 and KCNV2
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between KCNC1 and KIF5A, KIF5B (binding to KIF5 ensures properly assembled and functioning KCNC1 channels to be transported into axons)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EPM7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation     loss of function
    KCNC1 loss-of-function variant can present intellectual disability without seizure and epilepsy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Kv3.1/Kv3.3-deficient mice display severe sleep loss as a result of unstable slow-wave sleep