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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
Corresponding disease
EPM7 epilepsy, progressive myoclonic 7
Location 11p15.3      Physical location : 17.757.494 - 17.804.602
Synonym name
  • shaw-related voltage-gated potassium channel protein 1
  • Synonym symbol(s) NGK2, KV3.1, KV4, MGC129855, FLJ41162, FLJ42249, FLJ43491
    DNA
    TYPE functioning gene
    STRUCTURE 47.10 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 3134 - 585 - 2007 18094255
    KCNC1a, Kv3.1a
    2 - 6807 - 511 - 2007 18094255
  • KCNC1b, Kv3.1b
  • unique splice domain at Kv3.1b C terminus influences ATM binding to T1 and ankyrin G
  • EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Nervousbrain     Homo sapiens
     braindiencephalonthalamusnucleihighly Homo sapiens
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral    Homo sapiens
    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, 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
  • 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
    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