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KCNE1 Gene

protein-coding   GIFtS: 67
GCID: GC21M035818

Potassium Voltage-Gated Channel, Isk-Related Family, Member...

  See KCNE1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Potassium Voltage-Gated Channel, Isk-Related Family, Member 11 2     ISK2
Delayed Rectifier Potassium Channel Subunit IsK2 3     LQT2/52
Minimal Potassium Channel2 3     MinK2
IKs Producing Slow Voltage-Gated Potassium Channel Subunit Beta Mink2 3     Cardiac Delayed Rectifier Potassium Channel Protein2
JLNS2 5     Potassium Voltage-Gated Channel Subfamily E Member 12
JLNS22 5     Potassium Voltage-Gated Channel, Isk-Related Subfamily, Member 12
LQT52 5     Voltage Gated Potassiun Channel Accessory Subunit2
Human Cardiac Delayed Rectifier Potassium Channel Protein11     

External Ids:    HGNC: 62401   Entrez Gene: 37532   Ensembl: ENSG000001805097   OMIM: 1762615   UniProtKB: P153823   

Export aliases for KCNE1 gene to outside databases

Previous GC identifers: GC21M032398 GC21M034739 GC21M034741 GC21M034743 GC21M021297


(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 KCNE1 Gene:
The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to
many cellular functions and show a high degree of diversity, varying in their electrophysiologic and
pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the
KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both
Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants
encoding the same protein have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for KCNE1 Gene:
KCNE1 (potassium voltage-gated channel, Isk-related family, member 1) is a protein-coding gene. Diseases associated with KCNE1 include long qt syndrome 5, and jervell and lange-nielsen syndrome 2. GO annotations related to this gene include potassium channel regulator activity and voltage-gated potassium channel activity.

UniProtKB/Swiss-Prot: KCNE1_HUMAN, P15382
Function: Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of
pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex.
Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs)
channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may
modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr)

summary for KCNE1 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 KCNE1 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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence at NCBI GenBank:
NC_000021.8  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNE1 gene promoter:
         LHX3b/Lhx3b   SRY   AML1a   Sp1   p300   Egr-1   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNE1 promoter sequence

   Search Chromatin IP Primers for KCNE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNE1


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

Entrez Gene cytogenetic band: 21q22.12   Ensembl cytogenetic band:  21q22.12   HGNC cytogenetic band: 21q22.1-q22.2
Nature(405: 311-319) cytogenetic band:   21q22.12
KCNE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNE1 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M035818:   GeneLoc Nature:405,311-319
Start:
35,818,988 bp from pter       21,398,192 bp from centromere
End:
35,884,573 bp from pter 21,398,599 bp from centromere
Size:
65,586 bases 408 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: L28168
genomic clones: PPQ336B18


(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: KCNE1_HUMAN, P15382 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily E member 1  
Size: 129 amino acids; 14675 Da
Subunit: Associates with KCNQ1/KVLQT1 and KCNH2/HERG
Sequence caution: Sequence=AAH36452.1; Type=Erroneous termination; Positions=106; Note=Translated as Cys;
1 PDB 3D structure from and Proteopedia for KCNE1:
2K21 (3D)    
Secondary accessions: A5H1P2 Q8N709 Q91Z94

Explore the universe of human proteins at neXtProt for KCNE1: NX_P15382

Explore proteomics data for KCNE1 at MOPED

Post-translational modifications: 

  • Phosphorylation inhibits the potassium current (By similarity)1
  • N-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-51
  • Glycosylation2 at Asn5, Thr7, Asn26
  • Modification sites at PhosphoSitePlus

  • See KCNE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (8 alternative transcripts): 
    NP_000210.2  NP_001121140.1  NP_001121141.1  NP_001121142.1  NP_001257331.1  NP_001257332.1  NP_001257333.1  NP_001257334.1  

    ENSEMBL proteins: 
     ENSP00000382228   ENSP00000382226   ENSP00000416258   ENSP00000382225   ENSP00000337255  
     ENSP00000412498  

    KCNE1 Human Recombinant Protein Products:

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    Novus Biologicals KCNE1 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for KCNE1

     
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    KCNE1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for KCNE1

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    Cloud-Clone Corp. ELISAs for KCNE1
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    Search eBioscience for ELISAs for KCNE1 


    (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

    2 InterPro protein domains:
     IPR000369 K_chnl_volt-dep_bsu_KCNE
     IPR005424 K_chnl_volt-dep_bsu_KCNE1

    Graphical View of Domain Structure for InterPro Entry P15382

    ProtoNet protein and cluster: P15382

    2 Blocks protein domains:
    IPB000369 KCNE voltage-gated K+ channel beta subunit family signature
    IPB005424 KCNE voltage-gated K+ channel beta-1 subunit signature


    UniProtKB/Swiss-Prot: KCNE1_HUMAN, P15382
    Similarity: Belongs to the potassium channel KCNE family


    Find genes that share domains with KCNE1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNE1_HUMAN, P15382
    Function: Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of
    pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex.
    Assembled with KCNQ1/KVLQT1 is proposed to form the slowly activating delayed rectifier cardiac potassium (IKs)
    channel. The outward current reaches its steady state only after 50 seconds. Assembled with KCNH2/HERG may
    modulate the rapidly activating component of the delayed rectifying potassium current in heart (IKr)

         Genatlas biochemistry entry for KCNE1:
    potassium voltage-gated channel,Isk-related subfamily,member 1,widely expressed,associating with KCNQ1 to generate
    the slow delayed IKS channel,also associating with KCNH2 (HERG) to modulate the rapid delayed rectifier IKJ
    channel,central to the control of the heart rate and rhythm

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005249contributes to voltage-gated potassium channel activity IDA17289006
    GO:0005251contributes to delayed rectifier potassium channel activity IDA10400998
    GO:0005515protein binding IPI11697903
    GO:0015459potassium channel regulator activity IDA10400998
    GO:0031433telethonin binding IPI11697903
         
    Find genes that share ontologies with KCNE1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for KCNE1:
     Increased cell number in G2M,  

         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Kcne1):
     behavior/neurological  cardiovascular system  digestive/alimentary  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  nervous system 

    Find genes that share phenotypes with KCNE1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Kcne1tm1Sfh for KCNE1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNE1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KCNE1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KCNE1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KCNE1

    miRNA
    Products:
        
    miRTarBase miRNAs that target KCNE1:
    hsa-mir-1 (MIRT002924), hsa-mir-361-3p (MIRT038264)

    Block miRNA regulation of human, mouse, rat KCNE1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate KCNE1:
    hsa-miR-676 hsa-miR-550a hsa-miR-193a-3p hsa-miR-2276 hsa-miR-636 hsa-miR-193b
    SwitchGear 3'UTR luciferase reporter plasmidKCNE1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat KCNE1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 4): KCNE1 (NM_000219)
    Browse Sino Biological Human cDNA Clones
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    Addgene plasmids for KCNE1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNE1


    (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
    KCNE1_HUMAN, P15382: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    plasma membrane4
    extracellular2
    mitochondrion2
    cytoskeleton1
    endoplasmic reticulum1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA16780588
    GO:0005783endoplasmic reticulum IEA--
    GO:0005886plasma membrane IDA16780588
    GO:0008076voltage-gated potassium channel complex IDA17289006
    GO:0009986cell surface IDA10400998

    Find genes that share ontologies with KCNE1           About GenesLikeMe


    (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 KCNE1 About    
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium transporters outward current0.41
    2Potassium transporters inward current
    Potassium transporters inward current
    3Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway
    4Antiarrhythmic Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics
    5Adrenergic signaling in cardiomyocytes
    Adrenergic signaling in cardiomyocytes


    Find genes that share SuperPaths with KCNE1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNE1
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 PharmGKB Pathway for KCNE1
        Antiarrhythmic Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for KCNE1):
        Adrenergic signaling in cardiomyocytes

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCNE1
    Interactions:

        GeneGlobe Interaction Network for KCNE1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    Selected Interacting proteins for KCNE1 (P153821, 2, 3 ENSP000003372554) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNQ1P517871, 2, 3, ENSP000001558404EBI-7043557,EBI-359667 MINT-7297878 MINT-7297906 MINT-7297829 MINT-7297854 MINT-7297812 I2D: score=3 STRING: ENSP00000155840
    KCNH2Q128093, ENSP000002621864I2D: score=2 STRING: ENSP00000262186
    CALM1P621582, ENSP000003494674MINT-7297878 STRING: ENSP00000349467
    PRKCAP172523, ENSP000002843844I2D: score=1 STRING: ENSP00000284384
    CALM2P621582MINT-7297878
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002070epithelial cell maturation IEA--
    GO:0006487protein N-linked glycosylation IDA--
    GO:0006493protein O-linked glycosylation IDA--
    GO:0006811ion transport ----
    GO:0007605sensory perception of sound TAS9020846

    Find genes that share ontologies with KCNE1           About GenesLikeMe



    (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 KCNE1 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]

    1 HMDB Compound for KCNE1    About this table
    CompoundSynonyms CAS #PubMed Ids
    PotassiumK+ (see all 16)7440-09-7--

    1 DrugBank Compound for KCNE1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    IndapamideIndapamida [INN-Spanish] (see all 2)26807-65-8targetinhibitor11804849

    10 Novoseek inferred chemical compound relationships for KCNE1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 75.9 62 9609707 (3), 9234960 (2), 10613047 (2), 9556090 (1) (see all 39)
    chromanol 69.6 4 9396783 (2), 15947250 (1)
    chromanol 293b 68.9 1 16909339 (1)
    sodium 41.7 18 10613047 (2), 11259355 (1), 9654228 (1), 10898405 (1) (see all 11)
    nitric oxide 0 1 18056530 (1)
    phospholipid 0 2 8973194 (1), 8204631 (1)
    lipid 0 3 8204631 (2)
    arginine 0 2 14499862 (1)
    adenylate 0 1 17276182 (1)
    serine 0 2 19860128 (1)



    Find genes that share compounds with KCNE1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KCNE1 gene (8 alternative transcripts): 
    NM_000219.5  NM_001127668.3  NM_001127669.3  NM_001127670.3  NM_001270402.2  NM_001270403.2  NM_001270404.2  NM_001270405.2  

    Unigene Cluster for KCNE1:

    Potassium voltage-gated channel, Isk-related family, member 1
    Hs.121495  [show with all ESTs]
    Unigene Representative Sequence: NM_000219
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000399289(uc010gmp.3 uc002ytz.3) ENST00000399286 ENST00000416357
    ENST00000399284 ENST00000489175 ENST00000337385(uc010gmr.3 uc010gms.3 uc002yua.3)
    ENST00000432085(uc010gmq.3)
    miRNA
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    hsa-miR-676 hsa-miR-550a hsa-miR-193a-3p hsa-miR-2276 hsa-miR-636 hsa-miR-193b
    SwitchGear 3'UTR luciferase reporter plasmidKCNE1 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat KCNE1
      QuantiFast Probe-based Assays in human, mouse, rat KCNE1

    Additional mRNA sequence: 

    AK304336.1 AK311384.1 AK313543.1 AY789479.1 AY789480.1 BC036452.1 BC046224.1 BC069055.1 
    EU008568.1 EU008569.1 EU008570.1 L28168.1 

    10 DOTS entries:

    DT.40213813  DT.306348  DT.121138332  DT.121138341  DT.100000080  DT.121138325  DT.121138338  DT.121138343 
    DT.100000079  DT.121138345 

    Selected AceView cDNA sequences (see all 29):

    BQ924286 BM675496 BQ894021 AF135188 BC069055 AK095442 BC036452 BM976359 
    CD370857 BF593445 CB321701 NM_000219 BC046224 AI273371 BM931425 BX098634 
    CR541756 L28168 AI720140 CD695374 BI459541 AW772636 CD709208 AI915357 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KCNE1 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f
    SP1:              -                 -     -     -     -                                                   
    SP2:                                -     -     -     -     -                                             
    SP3:                                            -     -                                                   
    SP4:                                                                                                      
    SP5:                                                        -                                             


    ECgene alternative splicing isoforms for KCNE1

    (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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    KCNE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTGTTCTA
    KCNE1 Expression
    About this image

    KCNE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNE1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.121495

    UniProtKB/Swiss-Prot: KCNE1_HUMAN, P15382
    Tissue specificity: Expressed in heart, lung, kidney, testis, ovaries, small intestine, peripheral blood
    leukocytes. Not detected in pancreas, spleen, prostate and colon. Restrictively localized in the apical membrane
    portion of epithelial cells

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    (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 chordates.

    Orthologs for KCNE1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcne15 potassium voltage-gated channel, Isk-related subfamily, more   --   16 (53.57 cM) 92346001 
    chicken
    (Gallus gallus)
    Aves KCNE16
    potassium voltage-gated channel, Isk-related famil...
    45(a)
    1 ↔ 1
    1(105263120-105263903)
    lizard
    (Anolis carolinensis)
    Reptilia KCNE16
    potassium voltage-gated channel, Isk-related famil...
    47(a)
    1 ↔ 1
    3(142460692-142461075)
    zebrafish
    (Danio rerio)
    Actinopterygii AL807829.16
    Uncharacterized protein
    28(a)
    1 ↔ 1
    9(36920658-36921309) ENSDARG00000087204


    ENSEMBL Gene Tree for KCNE1 (if available)
    TreeFam Gene Tree for KCNE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNE1 gene
    2 SIMAP similar genes for KCNE1 using alignment to 6 protein entries:     KCNE1_HUMAN (see all proteins):
    KCNE2    KCNE4

    Find genes that share paralogs with KCNE1           About GenesLikeMe



    (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 KCNE1 (see all 1636)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289333841,2,,4
    CJervell and Lange-Nielsen syndrome 2 (JLNS2)4 pathogenic126368552(-) CACCAT/CAGCGG 16 /T /I mis1 ese32Minor allele frequency- C:0.00NA 4
    VAR_0089034
    Long QT syndrome 5 (LQT5)4--see VAR_0089032 W R mis40--------
    VAR_0088994
    Jervell and Lange-Nielsen syndrome 2 (JLNS2)4--see VAR_0088992 L H mis40--------
    VAR_0128024
    Long QT syndrome 5 (LQT5)4--see VAR_0128022 V I mis40--------
    VAR_0099084
    Long QT syndrome 5 (LQT5)4--see VAR_0099082 P T mis40--------
    VAR_0089004
    Long QT syndrome 5 (LQT5)4--see VAR_0089002 S L mis40--------
    VAR_0099074
    Long QT syndrome 5 (LQT5)4--see VAR_0099072 R W mis40--------
    VAR_0089014
    Long QT syndrome 5 (LQT5)4--see VAR_0089012 D N mis40--------
    VAR_0088984
    Jervell and Lange-Nielsen syndrome 2 (JLNS2)4--see VAR_0088982 V F mis40--------
    rs18051271,2,,4
    C,F,A,Hnon-pathogenic126368460(-) GCAGCA/GGTGAC 16 S G mis146Minor allele frequency- N:0.00MN NS EA NA WA CSA EU 11563

    HapMap Linkage Disequilibrium report for KCNE1 (35818988 - 35884573 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for KCNE1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv521323CNV Gain19592680

    Human Gene Mutation Database (HGMD): KCNE1
    Locus Specific Mutation Databases (LSDB): KCNE1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 176261   
    OMIM disorders: 612347  613695  
    UniProtKB/Swiss-Prot: KCNE1_HUMAN, P15382
  • Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347]: An autosomal recessive disorder characterized
    by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a
    high risk of sudden death. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Long QT syndrome 5 (LQT5) [MIM:613695]: A heart disorder characterized by a prolonged QT interval on the
    ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or
    emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 11 diseases for KCNE1:    
    About MalaCards
    long qt syndrome 5    jervell and lange-nielsen syndrome 2    jervell-lange nielsen syndrome    n-acetylglutamate synthase deficiency
    timothy syndrome    long qt syndrome    atrioventricular block    heterotaxy
    long qt syndrome 1    familial atrial fibrillation    atrial fibrillation, familial, 9

    5 diseases from the University of Copenhagen DISEASES database for KCNE1:
    Long QT syndrome     Familial atrial fibrillation     Brugada syndrome     Sensorineural hearing loss
    Timothy syndrome

    Find genes that share disorders with KCNE1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for KCNE1 gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    romano-ward syndrome 94.8 14 11216980 (1), 16929947 (1), 10898405 (1), 12388934 (1) (see all 13)
    long qt syndrome 94.5 35 11289718 (1), 14760488 (1), 16987820 (1), 9852064 (1) (see all 26)
    death sudden 79.3 9 11289718 (1), 10704188 (1), 8899564 (1), 14642002 (1) (see all 8)
    torsades de pointes 76.7 1 14510661 (1)
    congenital deafness 75.9 4 10704188 (1), 16929947 (1), 8899564 (1), 9341873 (1)
    arrhythmia 72 19 18426444 (1), 10704188 (1), 16132053 (1), 18803136 (1) (see all 12)
    ventricular tachyarrhythmia 63.8 2 19660109 (1), 15924777 (1)
    death sudden cardiac 62.7 2 16132053 (1), 19660109 (1)
    ventricular arrhythmia 58.8 4 18803136 (1), 16556865 (1), 11692163 (1), 14510661 (1)
    bilateral deafness 57.4 1 11226272 (1)

    GeneTests: KCNE1
    GeneReviews: KCNE1
    Genetic Association Database (GAD): KCNE1
    Human Genome Epidemiology (HuGE) Navigator: KCNE1 (56 documents)

    Export disorders for KCNE1 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 KCNE1 gene, integrated from 10 sources (see all 298):
    (articles sorted by number of sources associating them with KCNE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype. (PubMed id 11692163)1, 2, 4, 9 Schulze-Bahr E.... Breithardt G. (J. Mol. Med. 2001)
    2. Compound mutations: a common cause of severe long-QT syndrome. (PubMed id 15051636)1, 2, 4 Westenskow P....Sanguinetti M.C. (Circulation 2004)
    3. Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange- Nielsen syndrome. (PubMed id 8899564)1, 2, 9 Tesson F.... Guicheney P. (J. Mol. Cell. Cardiol. 1996)
    4. IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. (PubMed id 9328483)1, 2, 9 Tyson J.... Bitner-Glindzicz M. (Hum. Mol. Genet. 1997)
    5. Interactions of MinK and e-NOS gene polymorphisms appear to be inconsistent predictors of atrial fibrillation propensity, but long alleles of ESR1 promoter TA repeat may be a promising marker. (PubMed id 19860128)1, 4, 9 Smalcelj A....Brida M. (Coll Antropol 2009)
    6. The association between SCN5A, KCNQ1 and KCNE1 gene polymorphisms and complex ventricular arrhythmias in survivors of myocardial infarction. (PubMed id 18803136)1, 4, 9 Olszak-WaA9kiewicz M....Kaczanowski R. (Kardiol Pol 2008)
    7. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PubMed id 10973849)1, 2, 9 Splawski I....Keating M.T. (Circulation 2000)
    8. Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. (PubMed id 10400998)1, 2, 9 Bianchi L.... Brown A.M. (Hum. Mol. Genet. 1999)
    9. S38G single-nucleotide polymorphism at the KCNE1 locus is associated with heart failure. (PubMed id 20185111)1, 4, 9 Fatini C....Gensini G.F. (Heart Rhythm 2010)
    10. The single nucleotide polymorphisms of I(Ks) potassium channel genes and their association with atrial fibrillation in a Chinese population. (PubMed id 17016049)1, 4, 9 Zeng Z....Pu J. (Cardiology 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 3753 HGNC: 6240 AceView: KCNE1 Ensembl:ENSG00000180509 euGenes: HUgn3753
    ECgene: KCNE1 Kegg: 3753 H-InvDB: KCNE1

    (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 KCNE1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KCNE1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KCNE1 gene:
    Search GeneIP for patents involving KCNE1

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



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