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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KCNC1 Gene

protein-coding   GIFtS: 62
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 neuronitis, and among its related super-pathways are Potassium Channels and Transmission across Chemical Synapses. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_009237.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KCNC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Membrane; Multi-pass membrane protein

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

Explore proteomics data for KCNC1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P48547

  • KCNC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNC1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001106212.1  NP_004967.1  

    ENSEMBL proteins: 
     ENSP00000265969   ENSP00000368785  
    Reactome Protein details: P48547
    Human Recombinant Protein Products for KCNC1: 
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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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

    5/9 InterPro protein domains (see all 9):
     IPR005821 Ion_trans_dom
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR027359 K_channel_four-helix_dom
     IPR003968 K_chnl_volt-dep_Kv

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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  homeostasis/metabolism  mortality/aging  muscle 
     nervous system 

    KCNC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnc1tm1Joho for KCNC1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNC1 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KCNC1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters: outward current0.42
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.67
    3Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KCNC1
        Potassium transporters- outward current

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

    3        Reactome Pathways for KCNC1
        Potassium Channels
    Neuronal System
    Voltage gated Potassium channels



    KCNC1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNC1

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

    5/42 Interacting proteins for KCNC1 (P485473 ENSP000002659694) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KCNC1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about KCNC1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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:

    CK903961 M96747 BM053045 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KCNC1 expression in normal human tissues (normalized intensities)      KCNC1 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             cerebellum   
     
     Spinal Cord (Nervous System)
             Dorsal Horn   
     
     Skeletal Muscle (Muscoskeletal System)

     -- (Endocrine System)
             Pituitary gland   

    See KCNC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNC1

    SOURCE GeneReport for Unigene cluster: Hs.552896
        SABiosciences Expression via Pathway-Focused PCR Array including KCNC1: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KCNC1 gene from 7/15 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_003641325.1  XP_003641373.1 
    lizard
    (Anolis carolinensis)
    Reptilia KCNC16
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    95(a)
    36(a)
    (see all 3)
    1 ↔ 1
    possible ortholog
    (see all 3)
    1(67348426-67505179)
    GL343465.1(471595-473706)
    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 
    fruit fly
    (Drosophila melanogaster)
    Insecta Shaw3 potassium ion transport voltage-gated
    potassium more
    50(a)
    (best of 2)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea shw-33
    egl-361
    potassium channel protein3
    Protein EGL-361
    44(a)3
    51.52(n)1
    49.18(a)1
      V(12975999-12978929)3
    1812691  NM_077394.21  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
    Paralogs for KCNC1 gene
    KCNA62  KCNC22  KCNA22  KCNC42  KCND22  KCND12  KCNA72  KCNA52  
    KCNA12  KCNA42  KCNC32  KCNA32  KCND32  KCNA102  
    18/21 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/940 SNPs in KCNC1 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 176258    OMIM disorders: --

    2 diseases for KCNC1:    About MalaCards
    familial atrial fibrillation    neuronitis


    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)
    About This Section

    PubMed articles for KCNC1 gene, integrated from 9 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. (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. (1992)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. International Union of Pharmacology. LIII. Nomenclatu re and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (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. (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. (2012)
    7. Brain expression of Kv3 subunits during development, a dulthood and aging and in a murine model of Alzheimer's disease. (PubMed id 21912965)1 Boda E....Tempia F. (2012)
    8. Biochemical engineering of the N-acyl side chain of s ialic acids alters the kinetics of a glycosylated potassium channel Kv3.1. (PubMed id 21945320)1 Hall M.K....Schwalbe R.A. (2011)
    9. Kinesin I transports tetramerized Kv3 channels throug h the axon initial segment via direct binding. (PubMed id 21106837)1 Xu M....Gu C. (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. (2009)

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

    (According to HUGE)
    About This Section
      --

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

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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