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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
Corresponding disease
EIEE14 epileptic encephalopathy, early infantile, 14
ENFL5 epilepsy, nocturnal frontal lobe, type 5
Location 9q34.3      Physical location : 138.594.030 - 138.684.992
Synonym name
  • sequence like a calcium-activated K channel
  • Synonym symbol(s) KCa4.1, KIAA1422, FLJ41282, SLACK, bA100C15.2, Slo2.2
    DNA
    TYPE functioning gene
    STRUCTURE 90.96 kb     31 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    mode radiation hybrid
    Physical map
    LOC392398 9 similar to ligand-independent activating molecule for estrogen receptor C9orf62 9q34.3 chromosome 9 open reading frame 62 KIAA0649 9q34.3 chromosome 9 open reading frame 62 MGC29761 9q34.3 hypothetical protein MGC29761 MRPS2 9q34 mitochondrial ribosomal protein S2 LCN1 9q34 lipocalin 1 (protein migrating faster than albumin, tear prealbumin) OBP2A 9q34 lipocalin 1 (protein migrating faster than albumin, tear prealbumin) PAEP 9q34.2-q34.3 progestagen-associated endometrial protein (placental protein 14, pregnancy-associated endometrial alpha-2-globulin, alpha uterine protein) LOC138159 9q34.3 beta-lactoglobulin pseudogene GLTDC1 9q34.3 galactosyltransferase family 6 domain containing 1 LOC392399 9 similar to Putative MUP-like lipocalin precursor LOC286220 9q34.3 hypothetical protein LOC286220 KCNT1 9q34.3 potassium channel, subfamily T, member 1 CAMSAP1 9q34.3 calmodulin regulated spectrin-associated protein 1 LOC389805 9 similar to 9530003A05 protein GBDR1 9q34.1-q34.3 similar to 9530003A05 protein BTBD14A 9q34.3 BTB (POZ) domain containing 14A LOC392400 9 similar to F4N2.10 LOC389806 9 hypothetical gene supported by BC009060 LOC389807 9 LOC389807 LOC389808 9 LOC389808 LOC389809 9 LOC389809 LHX3 9q34.3 LIM homeobox protein 3 QSCN6L1 9q34.3 quiescin Q6-like 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    31 - 4782 - 1235 - 2010 20512134
    31 - 4696 - 1211 - 2010 20512134
    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