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Aliases for KCNT1 Gene

Aliases for KCNT1 Gene

  • Potassium Channel, Sodium Activated Subfamily T, Member 1 2 3
  • Sequence Like A Calcium-Activated K+ Channel 2 3
  • Potassium Channel, Subfamily T, Member 1 2 3
  • KIAA1422 4 6
  • EIEE14 3 6
  • KCa4.1 3 4
  • ENFL5 3 6
  • Potassium Channel Subfamily T Member 1 3
  • BA100C15.2 3
  • Slo2.2 3
  • SLACK 3

External Ids for KCNT1 Gene

Summaries for KCNT1 Gene

Entrez Gene Summary for KCNT1 Gene

  • 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]

GeneCards Summary for KCNT1 Gene

KCNT1 (Potassium Channel, Sodium Activated Subfamily T, Member 1) is a Protein Coding gene. Diseases associated with KCNT1 include epileptic encephalopathy, early infantile, 14 and epilepsy, nocturnal frontal lobe, 5. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include voltage-gated potassium channel activity and calcium-activated potassium channel activity. An important paralog of this gene is KCNT2.

UniProtKB/Swiss-Prot for KCNT1 Gene

  • Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) (By similarity).

Tocris Summary for KCNT1 Gene

  • Ca2+-activated potassium channels (KCa) are a group of 6/7-TM ion channels that selectively transport K+ ions across biological membranes. They are broadly classified into three subtypes, SK, IK and BK channels, based on their conductance (small, intermediate and big conductance respectively). The small conductance KCa channels (KCa2.1, 2.2 and 2.3, also known as SK1, SK2 and SK3 respectively) and the intermediate conductance KCa channel (KCa3.1, also known as SK4) are voltage-insensitive and are activated by Ca2+-calmodulin. Both play important roles in many processes involving Ca2+-dependent signalling in both electrically excitable and non-excitable cells. The BK family of KCa channels (also known as Slo or Maxi-K channels) are also voltage-sensitive and include KCa1.1 (Slo1), KCa4.1 (Slo2.2), KCa4.2 (Slo2.1) and KCa5.1 (Slo3). These channels do not require calmodulin for activation as they contain three direct bivalent cation binding sites.

Gene Wiki entry for KCNT1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNT1 Gene

Genomics for KCNT1 Gene

Genomic Location for KCNT1 Gene

Start:
135,702,185 bp from pter
End:
135,793,150 bp from pter
Size:
90,966 bases
Orientation:
Plus strand

Genomic View for KCNT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNT1 Gene

Regulatory Elements for KCNT1 Gene

Proteins for KCNT1 Gene

  • Protein details for KCNT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JUK3-KCNT1_HUMAN
    Recommended name:
    Potassium channel subfamily T member 1
    Protein Accession:
    Q5JUK3
    Secondary Accessions:
    • B3KXF7
    • B7ZVY4
    • B9EGP2
    • G5E9V0
    • Q9P2C5

    Protein attributes for KCNT1 Gene

    Size:
    1230 amino acids
    Molecular mass:
    138343 Da
    Quaternary structure:
    • Interacts with CRBN via its cytoplasmic C-terminus.
    SequenceCaution:
    • Sequence=BAA92660.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for KCNT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNT1 Gene

Proteomics data for KCNT1 Gene at MOPED

Post-translational modifications for KCNT1 Gene

  • Phosphorylated by protein kinase C. Phosphorylation of the C-terminal domain increases channel activity (By similarity).
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn133 and Asn137

No data available for DME Specific Peptides for KCNT1 Gene

Domains for KCNT1 Gene

Gene Families for KCNT1 Gene

HGNC:
  • KCN :Potassium channels
  • KCa :Voltage-gated ion channels / Potassium channels, calcium-activated
IUPHAR :

Protein Domains for KCNT1 Gene

Suggested Antigen Peptide Sequences for KCNT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5JUK3

UniProtKB/Swiss-Prot:

KCNT1_HUMAN
Domain:
  • Contains 1 RCK N-terminal domain.:
    • Q5JUK3
Family:
  • Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa4.1/KCNT1 sub-subfamily.:
    • Q5JUK3
genes like me logo Genes that share domains with KCNT1: view

Function for KCNT1 Gene

Molecular function for KCNT1 Gene

UniProtKB/Swiss-Prot Function: Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) (By similarity).

Gene Ontology (GO) - Molecular Function for KCNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005249 voltage-gated potassium channel activity IBA --
GO:0015269 calcium-activated potassium channel activity IBA --
genes like me logo Genes that share ontologies with KCNT1: view

Phenotypes for KCNT1 Gene

genes like me logo Genes that share phenotypes with KCNT1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KCNT1 Gene

Localization for KCNT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNT1 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNT1 Gene COMPARTMENTS Subcellular localization image for KCNT1 gene
Compartment Confidence
plasma membrane 5
nucleus 2

Gene Ontology (GO) - Cellular Components for KCNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008076 voltage-gated potassium channel complex IBA --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with KCNT1: view

Pathways for KCNT1 Gene

genes like me logo Genes that share pathways with KCNT1: view

Interacting Proteins for KCNT1 Gene

Gene Ontology (GO) - Biological Process for KCNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006813 potassium ion transport --
GO:0071805 potassium ion transmembrane transport IBA --
genes like me logo Genes that share ontologies with KCNT1: view

Compounds for KCNT1 Gene

(5) Tocris Compounds for KCNT1 Gene

Compound Action Cas Number
Apamin KCa2 channel blocker (small conductance) [24345-16-2]
CyPPA Activator of KCa2.2 and KCa2.3 channels [73029-73-9]
Iberiotoxin KCa channel blocker (big conductance) [129203-60-7]
Paxilline SERCA ATPase blocker. Also potent BKCa channel blocker [57186-25-1]
TRAM 34 Highly selective KCa3.1 channel blocker [289905-88-0]

(3) HMDB Compounds for KCNT1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Chlorine
  • Cl2
16887-00-6
Sodium
  • Sodium
7440-23-5

(5) IUPHAR Ligand for KCNT1 Gene

Ligand Type Action Affinity Pubmed IDs
iberiotoxin Inhibitor None
tetraethylammonium Inhibitor None
NS1619 Activator None
charybdotoxin Inhibitor None
NS004 Activator Potentiation
genes like me logo Genes that share compounds with KCNT1: view

Transcripts for KCNT1 Gene

Unigene Clusters for KCNT1 Gene

Potassium channel, subfamily T, member 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNT1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^
SP1: - - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:

ExUns: 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:

Relevant External Links for KCNT1 Gene

GeneLoc Exon Structure for
KCNT1
ECgene alternative splicing isoforms for
KCNT1

Expression for KCNT1 Gene

mRNA expression in normal human tissues for KCNT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNT1 Gene

This gene is overexpressed in Brain - Cerebellum (8.3), Brain - Cerebellar Hemisphere (7.1), Brain - Cortex (6.8), and Brain - Frontal Cortex (BA9) (4.8).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for KCNT1 Gene

SOURCE GeneReport for Unigene cluster for KCNT1 Gene Hs.104950

mRNA Expression by UniProt/SwissProt for KCNT1 Gene

Q5JUK3-KCNT1_HUMAN
Tissue specificity: Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle.
genes like me logo Genes that share expressions with KCNT1: view

Orthologs for KCNT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNT1 35
  • 94.56 (n)
  • 92.95 (a)
cow
(Bos Taurus)
Mammalia KCNT1 35
  • 90.52 (n)
  • 94.26 (a)
KCNT1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNT1 35
  • 90.18 (n)
  • 95.13 (a)
KCNT1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnt1 35
  • 86.49 (n)
  • 91.79 (a)
Kcnt1 16
Kcnt1 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNT1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 99 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
-- 36
  • 89 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Kcnt1 35
  • 86.53 (n)
  • 91.87 (a)
chicken
(Gallus gallus)
Aves KCNT1 35
  • 84.38 (n)
  • 89.51 (a)
KCNT1 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNT1 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnt2 35
  • 77.16 (n)
  • 88.56 (a)
zebrafish
(Danio rerio)
Actinopterygii CABZ01064108.1 36
  • 84 (a)
ManyToMany
kcnt1 35
  • 72.82 (n)
  • 81 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007585 35
  • 61.82 (n)
  • 58.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG42732 35
  • 61.99 (n)
  • 58.13 (a)
worm
(Caenorhabditis elegans)
Secernentea slo-2 35
  • 50.96 (n)
  • 48.1 (a)
Species with no ortholog for KCNT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNT1 Gene

ENSEMBL:
Gene Tree for KCNT1 (if available)
TreeFam:
Gene Tree for KCNT1 (if available)

Paralogs for KCNT1 Gene

Paralogs for KCNT1 Gene

Selected SIMAP similar genes for KCNT1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with KCNT1: view

Variants for KCNT1 Gene

Sequence variations from dbSNP and Humsavar for KCNT1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs475589 -- 135,718,340(-) CCCCC(C/T)ATGGC intron-variant
rs483324 -- 135,704,403(+) AGGCC(A/G)GAAAG intron-variant
rs487393 -- 135,713,101(-) CTCCC(C/G)TCCCC intron-variant
rs487750 -- 135,711,894(-) GGCAC(A/G)CGGAA intron-variant
rs487861 -- 135,711,848(-) TGTAG(C/G)GTGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNT1 Gene

Variant ID Type Subtype PubMed ID
nsv894256 CNV Loss 21882294
nsv831756 CNV Loss 17160897
nsv818735 CNV Gain 17921354
nsv517335 CNV Loss 19592680
dgv8368n71 CNV Loss 21882294
nsv469914 CNV Loss 18288195
dgv8369n71 CNV Loss 21882294
nsv825171 CNV Gain 20364138
dgv954n27 CNV Loss 19166990
dgv8370n71 CNV Loss 21882294
nsv469915 CNV Gain 18288195
dgv8371n71 CNV Loss 21882294
nsv894274 CNV Loss 21882294
esv1423661 CNV Insertion 17803354
nsv894276 CNV Loss 21882294
esv2739308 CNV Deletion 23290073
nsv825172 CNV Gain 20364138
esv1009202 CNV Insertion 20482838
esv1302788 CNV Insertion 17803354
esv2739309 CNV Deletion 23290073
esv2739310 CNV Deletion 23290073

Relevant External Links for KCNT1 Gene

HapMap Linkage Disequilibrium report
KCNT1
Human Gene Mutation Database (HGMD)
KCNT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNT1 Gene

Disorders for KCNT1 Gene

(2) OMIM Diseases for KCNT1 Gene (608167)

UniProtKB/Swiss-Prot

KCNT1_HUMAN
  • Epileptic encephalopathy, early infantile, 14 (EIEE14) [MIM:614959]: A rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. This severe neurologic disorder is characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. {ECO:0000269 PubMed:23086397}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005]: An autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy. {ECO:0000269 PubMed:23086396}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for KCNT1 Gene

Relevant External Links for KCNT1

Genetic Association Database (GAD)
KCNT1
genes like me logo Genes that share disorders with KCNT1: view

Publications for KCNT1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  4. International Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channels. (PMID: 16382103) Wei A.D. … Wulff H. (Pharmacol. Rev. 2005) 2 3
  5. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. (PMID: 23086396) Heron S.E. … Dibbens L.M. (Nat. Genet. 2012) 3 4

Products for KCNT1 Gene

Sources for KCNT1 Gene

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