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KCNC1 Gene

protein-coding   GIFtS: 63
GCID: GC11P017756

Potassium Voltage-Gated Channel, Shaw-Related Subfamily,...

  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 Voltage-Gated Channel, Shaw-Related Subfamily, Member 11 2     KV3.12
Voltage-Gated Potassium Channel Subunit Kv3.12 3     KV42
Voltage-Gated Potassium Channel Subunit Kv42 3     Potassium Voltage-Gated Channel Subfamily C Member 12
NGK22 3     Voltage-Gated Potassium Channel Protein KV3.12

External Ids:    HGNC: 62331   Entrez Gene: 37462   Ensembl: ENSG000001291597   OMIM: 1762585   UniProtKB: P485473   

Export aliases for KCNC1 gene to outside databases

Previous GC identifers: GC11P018878 GC11P018699 GC11P017796 GC11P017721 GC11P017681 GC11P017712 GC11P017441


(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 KCNC1 Gene:
The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of
four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw
subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an
integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes.
Multiple transcript variants encoding different isoforms have been inferred for this gene based on orthologous
loci. (provided by RefSeq, Jul 2008)

GeneCards Summary for KCNC1 Gene:
KCNC1 (potassium voltage-gated channel, Shaw-related subfamily, member 1) is a protein-coding gene. Diseases associated with KCNC1 include familial atrial fibrillation, and malaria. GO annotations related to this gene include delayed rectifier potassium channel activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNA6.

UniProtKB/Swiss-Prot: KCNC1_HUMAN, P48547
Function: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or
closed conformations in response to the voltage difference across the membrane, the protein forms a
potassium-selective channel through which potassium ions may pass in accordance with their electrochemical
gradient

summary for KCNC1 Gene:
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the
Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits
contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed
within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNC1 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_000011.10  NC_018922.2  NT_009237.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNC1 gene promoter:
         Max1   p300   NRSF form 1   MyoD   NRSF form 2   CREB   PPAR-alpha   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNC1 promoter sequence
   Search Chromatin IP Primers for KCNC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNC1


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

Entrez Gene cytogenetic band: 11p15   Ensembl cytogenetic band:  11p15.1   HGNC cytogenetic band: 11p15

KCNC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNC1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P017756:  view genomic region     (about GC identifiers)

Start:
17,756,359 bp from pter      End:
17,804,602 bp from pter
Size:
48,244 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: KCNC1_HUMAN, P48547 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily C member 1  
Size: 511 amino acids; 57942 Da
Subunit: Heteromultimer with KCNG3, KCNG4 and KCNV2

Explore the universe of human proteins at neXtProt for KCNC1: NX_P48547

Explore proteomics data for KCNC1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn220, Asn229
  • Modification sites at PhosphoSitePlus

  • See KCNC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001106212.1  NP_004967.1  

    ENSEMBL proteins: 
     ENSP00000265969   ENSP00000368785  
    Reactome Protein details: P48547

    KCNC1 Human Recombinant Protein Products:

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    KCNC1 Assay Products:

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    Cloud-Clone Corp. CLIAs for KCNC1


    (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
    Kv: Voltage-gated ion channels / Potassium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kv3.1
    Voltage-gated potassium channels

    Selected InterPro protein domains (see all 10):
     IPR005821 Ion_trans_dom
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR027359 Channel_four-helix_dom
     IPR028325 VG_K_chnl

    Graphical View of Domain Structure for InterPro Entry P48547

    ProtoNet protein and cluster: P48547

    4 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB003091 Potassium channel signature
    IPB003974 Shaw voltage-gated K+ channel family signature
    IPB005403 Kv3.1 voltage-gated K+ channel signature


    UniProtKB/Swiss-Prot: KCNC1_HUMAN, P48547
    Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino
    acids at every third position
    Domain: The tail may be important in modulation of channel activity and/or targeting of the channel to specific
    subcellular compartments
    Similarity: Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.1/KCNC1 sub-subfamily


    KCNC1 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: KCNC1_HUMAN, P48547
    Function: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or
    closed conformations in response to the voltage difference across the membrane, the protein forms a
    potassium-selective channel through which potassium ions may pass in accordance with their electrochemical
    gradient

         Genatlas biochemistry entry for KCNC1:
    potassium voltage-gated channel,Drosophila Shaw-related family,member 1 (mouse Kv3.1 homolog)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005249voltage-gated potassium channel activity TAS8449507
    GO:0005251delayed rectifier potassium channel activity IBA--
    GO:0005515protein binding ----
         
    KCNC1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KCNC1:
     Decreased Salmonella enterica  

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Kcnc1):
     behavior/neurological  growth/size/body  homeostasis/metabolism  mortality/aging  muscle 
     nervous system 

    KCNC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnc1tm1Joho for KCNC1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KCNC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KCNC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KCNC1

    miRNA
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    miRTarBase miRNAs that target KCNC1:
    hsa-mir-335-5p (MIRT016942), hsa-mir-92a-3p (MIRT049632)

    Block miRNA regulation of human, mouse, rat KCNC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KCNC1 (see all 56):
    hsa-miR-100* hsa-let-7d hsa-miR-3664-5p hsa-miR-218-1* hsa-let-7a-2* hsa-miR-3923 hsa-let-7g hsa-let-7a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KCNC1

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    GenScript: all cDNA clones in your preferred vector (see all 2): KCNC1 (NM_004976)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNC1


    (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
    KCNC1_HUMAN, P48547: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    nucleus2
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex IEA--
    GO:0016020membrane ----
    GO:0030673axolemma ----
    GO:0032590dendrite membrane ----

    KCNC1 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 KCNC1 About    
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters outward current0.41
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.68
    3Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNC1
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 Reactome Pathway for KCNC1
        Voltage gated Potassium channels



    KCNC1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNC1: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for KCNC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KCNC1 (P485473 ENSP000002659694) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNC2Q96PR13, ENSP000003769664I2D: score=1 STRING: ENSP00000376966
    KCNH1O952593, ENSP000002717514I2D: score=1 STRING: ENSP00000271751
    ANK3Q129553, ENSP000002807724I2D: score=1 STRING: ENSP00000280772
    KCNG3Q8TAE73, ENSP000003041274I2D: score=1 STRING: ENSP00000304127
    KCNV2Q8TDN23, ENSP000003715144I2D: score=1 STRING: ENSP00000371514
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006813potassium ion transport TAS8449507
    GO:0007268synaptic transmission TAS--
    GO:0051260protein homooligomerization IEA--
    GO:0055085transmembrane transport ----

    KCNC1 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 KCNC1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ICA 110381KV7.2/7.3 activator; displays anticonvulsant properties[325457-99-6]
    XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]
    JNJ 303Potent and selective IKs blocker[878489-28-2]
    E-4031 dihydrochlorideKV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
    ShK-Dap22Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro[220384-25-8]

    2 IUPHAR Ligands for KCNC1 (Kv3.1)    About this table
    LigandTypeActionAffinityPubmed IDs
    4-aminopyridine
    InhibitorNone--
    tetraethylammonium
    InhibitorNone--

    1 Novoseek inferred chemical compound relationship for KCNC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 62.2 4 1400413 (1), 8449507 (1), 1607925 (1), 17242957 (1)



    KCNC1 for compounds           About GeneDecksing



    (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 KCNC1 gene (2 alternative transcripts): 
    NM_001112741.1  NM_004976.4  

    Unigene Cluster for KCNC1:

    Potassium voltage-gated channel, Shaw-related subfamily, member 1
    Hs.552896  [show with all ESTs]
    Unigene Representative Sequence: NM_004976
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265969(uc009yhc.1) ENST00000379472(uc001mnk.4) ENST00000525802
    ENST00000526029(uc001mnl.1)
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    hsa-miR-100* hsa-let-7d hsa-miR-3664-5p hsa-miR-218-1* hsa-let-7a-2* hsa-miR-3923 hsa-let-7g hsa-let-7a
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      QuantiFast Probe-based Assays in human, mouse, rat KCNC1

    Additional mRNA sequence: 

    AK123157.1 AK124243.1 AK125480.1 BC107129.2 L00621.1 M96747.1 S56770.1 

    7 DOTS entries:

    DT.436620  DT.91834707  DT.40206707  DT.97829556  DT.120700095  DT.91720841  DT.95244524 

    5 AceView cDNA sequences:

    BM053045 CK903961 M96747 BQ187015 H19662 

    GeneLoc Exon Structure


    (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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    KCNC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KCNC1 Expression
    About this image


    KCNC1 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
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Cerebral Cortex
             cerebellum   
     
     Skeletal Muscle (Muscoskeletal System)
    KCNC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.552896
        Pathway & Disease-focused RT2 Profiler PCR Array including KCNC1: 
              Neuronal Ion Channels in human mouse rat

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    QuantiFast Probe-based Assays in human, mouse, rat KCNC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNC1

    (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 KCNC1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnc11 , 5 potassium voltage gated channel, Shaw-related subfamily, more1, 5 94.47(n)1
    99.83(a)1
      7 (30.10 cM)5
    165021  NM_001112739.11  NP_001106210.11 
     463964975 
    chicken
    (Gallus gallus)
    Aves KCNC11 potassium voltage-gated channel, Shaw-related subfamily, more 85.87(n)
    96.24(a)
      423076  XM_004941426.1  XP_004941483.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNC16
    potassium voltage-gated channel, Shaw-related subf...
    95(a)
    1 ↔ 1
    1(67348426-67505179)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia MGC759602 hypothetical protein MGC75960 78.08(n)    BC061388.1 
    zebrafish
    (Danio rerio)
    Actinopterygii myod2 myogenic differentiation 79.17(n)   30513  NM_131262.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0082011 AgaP_AGAP008201 61.19(n)
    52.38(a)
      1277770  XM_317267.4  XP_317267.4 
    worm
    (Caenorhabditis elegans)
    Secernentea shw-33
    egl-361
    potassium channel protein3
    egl-361
    44(a)3
    52.87(n)1
    50.49(a)1
      V(12975999-12978929)3
    1812691  NM_077394.31  NP_509795.11 


    ENSEMBL Gene Tree for KCNC1 (if available)
    TreeFam Gene Tree for KCNC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for KCNC1 gene
    KCNA62  KCNC22  KCNA22  KCNC42  KCND22  KCND12  KCNA72  KCNA52  
    KCNA12  KCNA42  KCNC32  KCNA32  KCND32  KCNA102  
    Selected SIMAP similar genes for KCNC1 using alignment to 3 protein entries:     KCNC1_HUMAN (see all proteins) (see all similar genes):
    KCNC4    KCNC3    KCNC2    KCNA3    KCNB2    KCNA10
    KCNB1    KCNA1    KCNS3    KCND1    KCND2    KCND3
    KCNS1    KCNS2    KCNA4    KCNA7    KCNA2    KCNG1

    KCNC1 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 KCNC1 (see all 940)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs47575861,2
    C,F,A,H--17755517(+) CAGCTC/TATCAC 2 -- us2k122Minor allele frequency- T:0.03NS EA NA WA CSA 1747
    rs38585141,2
    C,F,A--17755532(+) GGCAGT/CTGAAG 2 -- us2k15Minor allele frequency- C:0.13NA WA 128
    rs1414574261,2
    C--17755547(+) AGGAAA/GTGCGG 2 -- us2k10--------
    rs1451017471,2
    --17755648(+) TAGGGA/TTCCAG 2 -- us2k10--------
    rs1141858221,2
    F--17755677(+) CGTGAG/ACTTGG 2 -- us2k11Minor allele frequency- A:0.06WA 118
    rs1145934861,2
    F--17755696(+) GGCACT/ACATGG 2 -- us2k11Minor allele frequency- A:0.03WA 118
    rs590058031,2
    C--17755807(+) GATAAC/TGTGGT 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs567712201,2
    C--17755834(+) TGTGT-/GTGTGTGTGTGTGTGT/
    GTGTGTGTGTGTGTGTGTGT
    TGGGG
    2 -- us2k11NA 2
    rs788188381,2
    C--17755835(+) TGTGTG/TGGGGT 2 -- us2k10--------
    rs784848631,2
    --17755923(+) GGAGCC/GGTCAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for KCNC1 (17756359 - 17804602 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for KCNC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509390CNV Insertion20534489
    nsv521511CNV Loss19592680
    nsv832078CNV Loss17160897
    nsv825773CNV Loss20364138
    nsv516767CNV Loss19592680
    nsv825772CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNC1
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNC1

    (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: 176258    OMIM disorders: --

    5 diseases for KCNC1:    
    About MalaCards
    familial atrial fibrillation    malaria    alzheimer's disease    neuronitis
    cerebritis


    KCNC1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KCNC1
    Human Genome Epidemiology (HuGE) Navigator: KCNC1 (3 documents)

    Export disorders for KCNC1 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 KCNC1 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with KCNC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Localization of a highly conserved human potassium channel gene (NGK2-KV4; KCNC1) to chromosome 11p15. (PubMed id 8449507)1, 2, 3, 9 Ried T.... Sen K. (Genomics 1993)
    2. The Shaw-related potassium channel gene, Kv3.1, on human chromosome 11, encodes the type l K+ channel in T cells. (PubMed id 1400413)1, 2, 9 Grissmer S.... Chandy K.G. (J. Biol. Chem. 1992)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (Pharmacol. Rev. 2005)
    5. Auxiliary KChIP4a suppresses A-type K+ current through endoplasmic reticulum (ER) retention and promoting closed-state inactivation of Kv4 channels. (PubMed id 23576435)1 Tang Y.Q....Wang K. (J. Biol. Chem. 2013)
    6. N-glycosylation of the mammalian dipeptidyl aminopeptidase-like protein 10 (DPP10) regulates trafficking and interaction with Kv4 channels. (PubMed id 22387313)1 Cotella D.... Sblattero D. (Int. J. Biochem. Cell Biol. 2012)
    7. Brain expression of Kv3 subunits during development, adulthood and aging and in a murine model of Alzheimer's disease. (PubMed id 21912965)1 Boda E....Tempia F. (J. Mol. Neurosci. 2012)
    8. Biochemical engineering of the N-acyl side chain of sialic acids alters the kinetics of a glycosylated potassium channel Kv3.1. (PubMed id 21945320)1 Hall M.K....Schwalbe R.A. (FEBS Lett. 2011)
    9. Kinesin I transports tetramerized Kv3 channels through the axon initial segment via direct binding. (PubMed id 21106837)1 Xu M....Gu C. (J. Neurosci. 2010)
    10. Kv4 potassium channels form a tripartite complex with the anchoring protein SAP97 and CaMKII in cardiac myocytes. (PubMed id 19213956)1 El-Haou S.... Hatem S.N. (Circ. Res. 2009)

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

      Query String
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3746 HGNC: 6233 AceView: KCNC1 Ensembl:ENSG00000129159 euGenes: HUgn3746
    ECgene: KCNC1 H-InvDB: KCNC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KCNC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KCNC1 gene:
    Search GeneIP for patents involving KCNC1

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



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