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KCNT1 Gene

protein-coding   GIFtS: 54
GCID: GC09P138594

Potassium Channel, Subfamily T, Member 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Potassium Channel, Subfamily T, Member 11 2     KIAA14223 5
KCa4.12 3     SLACK2
EIEE142 5     bA100C15.22
ENFL52 5     Potassium Channel Subfamily T Member 12

External Ids:    HGNC: 188651   Entrez Gene: 575822   Ensembl: ENSG000001071477   OMIM: 6081675   UniProtKB: Q5JUK33   

Export aliases for KCNT1 gene to outside databases

Previous GC identifers: GC09P129743 GC09P130365 GC09P132117 GC09P134032 GC09P134033 GC09P135819 GC09P137733 GC09P108055


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, subfamily T, member 1) is a protein-coding gene. Diseases associated with KCNT1 include cortical deafness, and epilepsy, nocturnal frontal lobe, 5. 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 KCNMA1.

UniProtKB/Swiss-Prot: KCNT1_HUMAN, Q5JUK3
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)

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNT1 gene promoter:
         NF-1   NF-1/L   p53   MyoD   AP-4   Nkx2-5   LUN-1   NF-kappaB   S8   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNT1 promoter sequence
   Search Chromatin IP Primers for KCNT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

KCNT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNT1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P138594:  view genomic region     (about GC identifiers)

Start:
138,594,031 bp from pter      End:
138,684,993 bp from pter
Size:
90,963 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KCNT1_HUMAN, Q5JUK3 (See protein sequence)
Recommended Name: Potassium channel subfamily T member 1  
Size: 1230 amino acids; 138343 Da
Subunit: Interacts with CRBN via its cytoplasmic C-terminus (By similarity)
Sequence caution: Sequence=BAA92660.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAI39240.1; Type=Erroneous initiation;
Secondary accessions: B7ZVY4 B9EGP2 Q9P2C5
Alternative splicing: 3 isoforms:  Q5JUK3-1   Q5JUK3-2   Q5JUK3-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KCNT1: NX_Q5JUK3

Explore proteomics data for KCNT1 at MOPED

Post-translational modifications: 

  • Phosphorylated by protein kinase C. Phosphorylation of the C-terminal domain increases channel activity (By
    similarity)1
  • Glycosylation2 at Asn133, Asn137
  • Modification sites at PhosphoSitePlus

  • See KCNT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001258932.1  NP_065873.2  

    ENSEMBL proteins: 
     ENSP00000417851   ENSP00000360822   ENSP00000418777   ENSP00000420764   ENSP00000417578  
     ENSP00000419086   ENSP00000419007   ENSP00000418003   ENSP00000298480   ENSP00000263604  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KCN: Potassium channels
    KCa: Voltage-gated ion channels / Potassium channels, calcium-activated

    IUPHAR Guide to PHARMACOLOGY protein family classification: KCa4.1
    Calcium-activated potassium channels

    3 InterPro protein domains:
     IPR016040 NAD(P)-bd_dom
     IPR013099 2pore_dom_K_chnl_dom
     IPR003929 K_chnl_Ca-activ_BK_asu

    Graphical View of Domain Structure for InterPro Entry Q5JUK3

    ProtoNet protein and cluster: Q5JUK3

    1 Blocks protein domain: IPB013099 Ion transport 2

    UniProtKB/Swiss-Prot: KCNT1_HUMAN, Q5JUK3
    Similarity: Belongs to the potassium channel family. Calcium-activated (TC 1.A.1.3) subfamily. KCa4.1/KCNT1
    sub-subfamily
    Similarity: Contains 1 RCK N-terminal domain


    KCNT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNT1_HUMAN, Q5JUK3
    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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005249voltage-gated potassium channel activity IBA--
    GO:0015269calcium-activated potassium channel activity IBA--
         
    KCNT1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KCNT1:
     Increased Salmonella enterica   Increased gamma-H2AX phosphory 

         1 MGI phenotypic allele for Kcnt1 (no phenotypes)

    KCNT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnt1tm1Lex for KCNT1

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    hsa-miR-633 hsa-miR-4311 hsa-miR-218 hsa-miR-636
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KCNT1_HUMAN, Q5JUK3: Cell membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008076voltage-gated potassium channel complex IBA--
    GO:0016020membrane ----

    KCNT1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KCNT1 About    
    See pathways by source

    SuperPathContained pathways About
    1Sweet Taste Signaling
    Sweet Taste Signaling0.72
    Bitter Taste Signaling0.44
    Melatonin Signaling0.72
    Sperm Motility0.37
    Cellular Effects of Sildenafil0.46
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    3Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Neuropathic Pain-Signaling in Dorsal Horn Neurons0.47
    Cholera Infection0.40
    Aldosterone Signaling in Epithelial Cells0.47
    4Hepatic ABC Transporters
    Hepatic ABC Transporters0.41
    MODY (Maturity-Onset Diabetes of Young)0.41

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for KCNT1 (see all 13)
        Cholera Infection
    Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Hepatic ABC Transporters
    PKA Signaling
    Sweet Taste Signaling


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCNT1
    Interactions:

        Search GeneGlobe Interaction Network for KCNT1

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006813potassium ion transport ----
    GO:0071805potassium ion transmembrane transport IBA--

    KCNT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for KCNT1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PaxillineSERCA ATPase blocker. Also potent BKCa channel blocker[57186-25-1]
    TRAM 34Highly selective KCa3.1 channel blocker[289905-88-0]
    CyPPAActivator of KCa2.2 and KCa2.3 channels[73029-73-9]
    ApaminKCa2 channel blocker (small conductance)[24345-16-2]
    IberiotoxinKCa channel blocker (big conductance)[129203-60-7]

    3 HMDB Compounds for KCNT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    ChlorineCl2 (see all 13)16887-00-6--
    SodiumSodium (see all 2)7440-23-5--

    5 IUPHAR Ligands for KCNT1 (KCa4.1)    About this table
    LigandTypeActionAffinityPubmed IDs
    iberiotoxin
    InhibitorNone--
    tetraethylammonium
    InhibitorNone--
    NS1619
    ActivatorNone--
    charybdotoxin
    InhibitorNone--
    NS004
    ActivatorNone--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KCNT1 gene (2 alternative transcripts): 
    NM_001272003.1  NM_020822.2  

    Unigene Cluster for KCNT1:

    Potassium channel, subfamily T, member 1
    Hs.104950  [show with all ESTs]
    Unigene Representative Sequence: NM_020822
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000487664(uc010nbf.3) ENST00000371757 ENST00000460750(uc011mdr.2)
    ENST00000473941 ENST00000486577 ENST00000491806 ENST00000488444 ENST00000490355
    ENST00000490363(uc004cgo.1) ENST00000475008 ENST00000298480(uc011mdq.2)
    ENST00000263604
    miRNA
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    hsa-miR-633 hsa-miR-4311 hsa-miR-218 hsa-miR-636
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    Additional mRNA sequence: 

    AB037843.1 AK123276.1 AK124588.1 AK127272.1 BC136618.1 BC144304.1 BC171770.1 

    5 DOTS entries:

    DT.40262013  DT.101981724  DT.97788661  DT.101981723  DT.100773373 

    18 AceView cDNA sequences:

    BM547545 AB037843 BC035730 AK127272 AK123276 BE260717 BX110871 BF311848 
    BQ721148 BX331632 AK124588 BX375126 AA442216 BF315953 BM925808 R87855 
    BF207020 BF363321 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KCNT1 (see all 7)    About this scheme

    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for KCNT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KCNT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KCNT1 Expression
    About this image


    KCNT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
    KCNT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.104950

    UniProtKB/Swiss-Prot: KCNT1_HUMAN, Q5JUK3
    Tissue specificity: Highest expression in liver, brain and spinal cord. Lowest expression in skeletal muscle

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for KCNT1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnt11 , 5 potassium channel, subfamily T, member 11, 5 86.49(n)1
    91.79(a)1
      2 (18.27 cM)5
    2276321  NM_175462.31  NP_780671.21 
     258637955 
    chicken
    (Gallus gallus)
    Aves KCNT11 potassium channel, subfamily T, member 1 84.38(n)
    89.51(a)
      395248  NM_204562.2  NP_989893.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNT16
    potassium channel, subfamily T, member 1
    84(a)
    1 ↔ 1
    GL343625.1(302078-375056)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kcnt21 potassium channel, subfamily T, member 2 77.16(n)
    88.56(a)
      100316919  NM_001170513.2  NP_001163984.2 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnt11 potassium channel, subfamily T, member 1 72.82(n)
    81(a)
      100004419  XM_001920597.3  XP_001920632.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG427321 CG42732 61.99(n)
    58.13(a)
      5740325  NM_001103789.3  NP_001097259.2 
    worm
    (Caenorhabditis elegans)
    Secernentea slo-21 slo-2 50.96(n)
    48.1(a)
      181332  NM_001136452.2  NP_001129924.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNT1 gene
    KCNMA12  KCNT22  KCNU12  
    1 SIMAP similar gene for KCNT1 using alignment to 8 protein entries:     KCNT1_HUMAN (see all proteins):
    KCNT2

    KCNT1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KCNT1 (see all 2648)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0693184
    Epileptic encephalopathy, early infantile, 14 (EIEE14)4--see VAR_0693182 A T mis40--------
    VAR_0693154
    Epilepsy, nocturnal frontal lobe, 5 (ENFL5)4--see VAR_0693152 Y H mis40--------
    VAR_0693114
    Epilepsy, nocturnal frontal lobe, 5 (ENFL5)4--see VAR_0693112 R Q mis40--------
    VAR_0693144
    Epileptic encephalopathy, early infantile, 14 (EIEE14)4--see VAR_0693142 I M mis40--------
    VAR_0693124
    Epileptic encephalopathy, early infantile, 14 (EIEE14)4--see VAR_0693122 R Q mis40--------
    VAR_0693134
    Epileptic encephalopathy, early infantile, 14 (EIEE14)4--see VAR_0693132 R H mis40--------
    VAR_0693174
    Epilepsy, nocturnal frontal lobe, 5 (ENFL5)4--see VAR_0693172 R C mis40--------
    VAR_0693164
    Epilepsy, nocturnal frontal lobe, 5 (ENFL5)4--see VAR_0693162 M I mis40--------
    rs59010891,2
    C--138594266(+) CCCCCC/-AAGTT 2 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs113063761,2
    C--138612238(+) TGGTCG/-GGGAA 2 -- int12Minor allele frequency- -:0.25NA CSA 4

    HapMap Linkage Disequilibrium report for KCNT1 (138594031 - 138684993 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KCNT1 (see all 21):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739310CNV Deletion23290073
    esv2739308CNV Deletion23290073
    esv2739309CNV Deletion23290073
    esv1009202CNV Insertion20482838
    esv1423661CNV Insertion17803354
    esv1302788CNV Insertion17803354
    dgv8371n71CNV Loss21882294
    nsv894256CNV Loss21882294
    nsv894274CNV Loss21882294
    nsv517335CNV Loss19592680

    Human Gene Mutation Database (HGMD): KCNT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNT1
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608167   
    OMIM disorders: 614959  615005  
    UniProtKB/Swiss-Prot: KCNT1_HUMAN, Q5JUK3
  • 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. 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for KCNT1 (see all 27):    
    About MalaCards
    cortical deafness    epilepsy, nocturnal frontal lobe, 5    form agnosia    malignant migrating partial seizures of infancy
    generalized epilepsy and paroxysmal dyskinesia    paroxysmal dyskinesia    follicular mucinosis    hypertropia
    benign familial infantile epilepsy    vitreous detachment    frontal lobe epilepsy    epileptic encephalopathy, early infantile, 12
    autosomal dominant nocturnal frontal lobe epilepsy    epilepsy, nocturnal frontal lobe, 1    agnosia    cutis laxa
    intracranial aneurysm    maturity-onset diabetes of the young    mycosis fungoides    tetanus

    3 diseases from the University of Copenhagen DISEASES database for KCNT1:
    Form agnosia     Cortical deafness     Benign familial infantile epilepsy

    KCNT1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KCNT1

    Export disorders for KCNT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KCNT1 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with KCNT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 10718198)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    2. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. (PubMed id 23086397)1, 2 Barcia G.... Nabbout R. (Nat. Genet. 2012)
    3. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. (PubMed id 23086396)1, 2 Heron S.E.... Dibbens L.M. (Nat. Genet. 2012)
    4. International Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channels. (PubMed id 16382103)1, 3 Wei A.D....Wulff H. (Pharmacol. Rev. 2005)
    5. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    6. A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. (PubMed id 24029078)1 Ishii A....Yamamoto T. (Gene 2013)
    7. Genetics: mutations in potassium channel KCNT1-a novel driver of epilepsy pathogenesis. (PubMed id 23147853)1 Kingwell K. (Nat Rev Neurol 2012)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57582 HGNC: 18865 AceView: KCNT1 Ensembl:ENSG00000107147 euGenes: HUgn57582
    ECgene: KCNT1 H-InvDB: KCNT1

    (According to HUGE)
    About This Section

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    HUGE: KIAA1422

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KCNT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for KCNT1 gene:
    Search GeneIP for patents involving KCNT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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