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

KCNE1 Gene

protein-coding   GIFtS: 66
GCID: GC21M035818

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

  See 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)
About This Section

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

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, and among its related super-pathways are Potassium Channels. GO annotations related to this gene include delayed rectifier potassium channel activity and potassium channel regulator 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NT_011512.11  NC_018932.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KCNE1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Membrane; Single-pass type I membrane protein
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:

  • UniProtKB: Phosphorylation inhibits the potassium current (By similarity)
  • UniProtKB: N-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-5
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P15382

  • KCNE1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNE1 Protein Expression
    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  

    Human Recombinant Protein Products for KCNE1: 
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    Novus Biologicals KCNE1 Proteins
    Novus Biologicals KCNE1 Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KCNE1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA16780588
    GO:0005886plasma membrane IDA16780588
    GO:0008076voltage-gated potassium channel complex IDA17289006
    GO:0009986cell surface IDA10400998
    GO:0016020membrane ----

    KCNE1 for ontologies           About GeneDecksing



    KCNE1 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for KCNE1


    (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

    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


    KCNE1 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: 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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    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 IPI19521339
    GO:0015459potassium channel regulator activity IDA10400998
    GO:0031433telethonin binding IPI11697903
         
    KCNE1 for ontologies           About GeneDecksing


    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 

    KCNE1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcne1tm1Sfh for KCNE1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNE1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    miRTarBase miRNAs that target KCNE1:
    hsa-mir-1 (MIRT002924)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KCNE1
    6 QIAGEN miScript miRNA 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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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNE1


    (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 KCNE1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium transporters: outward current0.42
    2Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway
    3Antiarrhythmic Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics
    4Potassium transporters: inward current
    Potassium transporters: inward current

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for KCNE1
        Potassium transporters- inward current
    Potassium transporters- outward current

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

    1 PharmGKB Pathway for KCNE1
        Antiarrhythmic Pathway, Pharmacodynamics


    KCNE1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNE1

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

    5/6 Interacting proteins for KCNE1 (P153822, 3 ENSP000003372554) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNQ1P517872, 3, ENSP000001558404MINT-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): 5/23 biological process terms (GO ID links to tree view) (see all 23):    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:0006936muscle contraction ----

    KCNE1 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

    KCNE1 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about KCNE1

    (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,
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    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 KCNE1 gene (8 alternative transcripts): 
    NM_000219.4  NM_001127668.2  NM_001127669.2  NM_001127670.2  NM_001270402.1  NM_001270403.1  NM_001270404.1  NM_001270405.1  

    Unigene Clusters for KCNE1:

    Potassium voltage-gated channel, Isk-related family, member 1
    Hs.121495  [show with all ESTs], Hs.745384
    Unigene Representative Sequences: NM_000219, CV024589
    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)
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    Additional mRNA sequence: 

    AF135188.1 CR541756.1 EF514882.1 EF514883.1 

    10 DOTS entries:

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

    24/29 AceView cDNA sequences (see all 29):

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

    GeneLoc Exon Structure

    5/7 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™, 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

    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


    See KCNE1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNE1

    SOURCE GeneReport for Unigene clusters: Hs.121495 Hs.745384

    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KCNE1 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcne11 , 5 potassium voltage-gated channel, Isk-related subfamily, more1, 5 81.89(n)1
    77.17(a)1
      16 (53.57 cM)5
    165091  NM_008424.31  NP_032450.11 
     923460015 
    chicken
    (Gallus gallus)
    Aves KCNE11 potassium voltage-gated channel, Isk-related family, more 65.07(n)
    47.2(a)
      427980  XM_425550.2  XP_425550.2 
    lizard
    (Anolis carolinensis)
    Reptilia KCNE16
    Uncharacterized protein
    48(a)
    1 ↔ 1
    3(142460692-142461075)
    zebrafish
    (Danio rerio)
    Actinopterygii AL807829.16
    Uncharacterized protein
    30(a)
    1 ↔ 1
    9(36920658-36921309)


    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)
    About This Section
    Paralogs for KCNE1 gene
    2 SIMAP similar genes for KCNE1 using alignment to 6 protein entries:     KCNE1_HUMAN (see all proteins):
    KCNE2    KCNE4

    KCNE1 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

    10/1636 SNPs in KCNE1 are shown (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
    ----------
    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--------
    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
    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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/21 diseases for KCNE1 (see all 21):    About MalaCards
    long qt syndrome 5    jervell and lange-nielsen syndrome 2    jervell-lange nielsen syndrome    timothy syndrome
    long qt syndrome    familial long qt syndrome    syncope    familial atrial fibrillation
    congenital heart block    brugada syndrome    gastroparesis    meniere's disease
    menieres disease    sudden infant death syndrome    sensorineural hearing loss    hyperparathyroidism
    down syndrome    myocardial infarction    adenoma    schizophrenia

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

    KCNE1 for disorders           About GeneDecksing

    10/18 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)
    About This Section

    PubMed articles for KCNE1 gene, integrated from 9 sources (see all 292):
    (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. (2001)
    2. Compound mutations: a common cause of severe long-QT syndrome. (PubMed id 15051636)1, 2, 4 Westenskow P....Sanguinetti M.C. (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. (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. (1997)
    5. Interactions of MinK and e-NOS gene polymorphisms app ear to be inconsistent predictors of atrial fibrillation propensity, but long a lleles of ESR1 promoter TA repeat may be a promising marker. (PubMed id 19860128)1, 4, 9 Smalcelj A....Brida M. (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-Waskiewicz M....Kaczanowski R. (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. (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. (1999)
    9. S38G single-nucleotide polymorphism at the KCNE1 locu s is associated with heart failure. (PubMed id 20185111)1, 4, 9 Fatini C....Gensini G.F. (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. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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)
    About This Section
    Entrez Gene: 3753 HGNC: 6240 AceView: KCNE1 Ensembl:ENSG00000180509 euGenes: HUgn3753
    ECgene: KCNE1 H-InvDB: KCNE1

    (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 KCNE1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNE1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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