Version: 8.0.0
Date: Tue Jan 28 2025
KCNT1
Homo sapiensHGNC:18865
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

KCNT1

Species
Homo sapiens
Symbol
KCNT1
Name
potassium sodium-activated channel subfamily T member 1
Synonyms
  • bA100C15.2
  • DEE14
Biotype
protein coding gene
Automated Description
Enables intracellular sodium-activated potassium channel activity. Involved in potassium ion transmembrane transport and protein homotetramerization. Predicted to be located in membrane. Predicted to be active in postsynaptic density membrane. Implicated in autosomal dominant nocturnal frontal lobe epilepsy 5 and developmental and epileptic encephalopathy 14.
RGD Description
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10027
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          KCNT1 molecule type
          Interactor gene
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            Genetic Interactions

            KCNT1 role
            KCNT1 genetic perturbation
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            Interactor genetic perturbation
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