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FLASH GENE
Symbol KCNT1 contributors: npt/mct - updated : 20-01-2015
HGNC name potassium channel, subfamily T, member 1
HGNC id 18865
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart     Homo sapiens
Hearing/Equilibriumearinnercochlea highly
Nervousbrain   highly Homo sapiensAdult
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousautonomous  highly Homo sapiensAdult
Nervouscentral  highly Homo sapiensAdult
Nervousperipherous  highly Homo sapiensAdult
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumcochlea cell
Nervousneuron Homo sapiens
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain, liver
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two 'regulator of K(+) conductance' (RCK) domains within its C- terminus, domains likely involved in Na(+) binding and channel gating, and specific lysines that are involved in INPP5J binding
  • extended cytoplasmic domain containing 913 AAs
  • HOMOLOGY
    Homologene
    FAMILY
  • SLO family of high-conductance potassium channels
  • calcium-activated subfamily
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in calcium-activated potassium ion transport
  • KCNT2, KCNT1 may contribute to the resting potentials of cells and control their basal level of excitability
  • regulate the accuracy of timing of auditory neurons
  • may play an important role in pathological conditions during which there is an increase in the intracellular concentrations of both acid and Na(+), such as in ischemia/hypoxia
  • encodes a Na(+)-activated K(+) channel and is expressed in many different types of neurons
  • regulates the rate of bursting and enhances the accuracy with which action potentials lock to incoming stimuli
  • in addition to regulating ion flux, KCNT1 has a non-conducting function
  • KCNT2, KCNT1 control basal excitability and are involved in cell volume regulation
  • emerging role of KCNT1 channels in intellectual disability
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS facilitated diffusion transport
    PATHWAY
    metabolism
    signaling
    a component KCNT1 and KCNT2 subunits coassemble to form heteromeric channels that differ from the homomers in their unitary conductance, kinetic behavior, subcellular localization, and response to activation of protein kinase C
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction of KCNT1 channels with FMR1 serves to regulate the proposed functions of FMR1 in mRNA trafficking and translation
  • INPP5J is in addition a novel regulator of the activity of KCNT1 and KCNT2 channels
  • interact directly with the fragile X mental retardation protein (FMR1) and I KNa is reduced in animal models of Fragile X syndrome that lack Fmrp
  • cell & other
    REGULATION
    activated by calcium Ca2+
    Other unlike PRKCG, phosphorylation by PRKACA does not acutely modulate the function and gating activation kinetics of KCNT1 channels
    ASSOCIATED DISORDERS
    corresponding disease(s) ENFL5 , EIEE14
    Susceptibility to non-familial Brugada syndrome
    Variant & Polymorphism other
  • de novo mutations in patients with non-familial Brugada syndrome
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS