Details for: KCNE1

Gene ID: 3753

Symbol: KCNE1

Ensembl ID: ENSG00000180509

Description: potassium voltage-gated channel subfamily E regulatory subunit 1

Associated with

  • Cardiac conduction
    (R-HSA-5576891)
  • Muscle contraction
    (R-HSA-397014)
  • Phase 2 - plateau phase
    (R-HSA-5576893)
  • Phase 3 - rapid repolarisation
    (R-HSA-5576890)
  • Apical plasma membrane
    (GO:0016324)
  • Cardiac muscle cell action potential involved in contraction
    (GO:0086002)
  • Cell surface
    (GO:0009986)
  • Cellular response to acidic ph
    (GO:0071468)
  • Cellular response to camp
    (GO:0071320)
  • Cellular response to light stimulus
    (GO:0071482)
  • Delayed rectifier potassium channel activity
    (GO:0005251)
  • Epithelial cell maturation
    (GO:0002070)
  • Lysosome
    (GO:0005764)
  • Male gonad development
    (GO:0008584)
  • Membrane raft
    (GO:0045121)
  • Membrane repolarization
    (GO:0086009)
  • Membrane repolarization during action potential
    (GO:0086011)
  • Membrane repolarization during cardiac muscle cell action potential
    (GO:0086013)
  • Membrane repolarization during ventricular cardiac muscle cell action potential
    (GO:0098915)
  • Negative regulation of delayed rectifier potassium channel activity
    (GO:1902260)
  • Negative regulation of protein targeting to membrane
    (GO:0090315)
  • Plasma membrane
    (GO:0005886)
  • Positive regulation of potassium ion transmembrane transport
    (GO:1901381)
  • Potassium channel regulator activity
    (GO:0015459)
  • Potassium ion export across plasma membrane
    (GO:0097623)
  • Potassium ion transmembrane transport
    (GO:0071805)
  • Protein-containing complex binding
    (GO:0044877)
  • Protein binding
    (GO:0005515)
  • Regulation of delayed rectifier potassium channel activity
    (GO:1902259)
  • Regulation of heart rate by cardiac conduction
    (GO:0086091)
  • Regulation of potassium ion transmembrane transport
    (GO:1901379)
  • Regulation of ventricular cardiac muscle cell membrane repolarization
    (GO:0060307)
  • Secretory granule organization
    (GO:0033363)
  • Sensory perception of sound
    (GO:0007605)
  • Telethonin binding
    (GO:0031433)
  • Transmembrane transporter binding
    (GO:0044325)
  • Ventricular cardiac muscle cell action potential
    (GO:0086005)
  • Vestibular nucleus development
    (GO:0021750)
  • Voltage-gated potassium channel activity
    (GO:0005249)
  • Voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
    (GO:0086008)
  • Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
    (GO:1902282)
  • Voltage-gated potassium channel complex
    (GO:0008076)
  • Z disc
    (GO:0030018)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 3.24
    Marker Score: 1571
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1165
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 169207
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 1.47
    Marker Score: 699
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.28
    Marker Score: 11122
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 852
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 1.23
    Marker Score: 635.5
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.17
    Marker Score: 485
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71817
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48042
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 506
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 460
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5333
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 372
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2738
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.91
    Marker Score: 1728
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5286
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.86
    Marker Score: 2950
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.83
    Marker Score: 1679
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.82
    Marker Score: 624
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.78
    Marker Score: 19909
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1260
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 707
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.77
    Marker Score: 1917
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.76
    Marker Score: 3196
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.68
    Marker Score: 2925
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.66
    Marker Score: 301
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.65
    Marker Score: 236
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.64
    Marker Score: 359
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 0.62
    Marker Score: 1485
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.59
    Marker Score: 380
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.57
    Marker Score: 8963
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.56
    Marker Score: 3009
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.55
    Marker Score: 552.5
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.54
    Marker Score: 172
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.53
    Marker Score: 849
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.5
    Marker Score: 3188
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.45
    Marker Score: 852
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.45
    Marker Score: 304.5
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.45
    Marker Score: 2707
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.44
    Marker Score: 314
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 0.44
    Marker Score: 504
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.43
    Marker Score: 1650
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.38
    Marker Score: 143
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.37
    Marker Score: 170
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.37
    Marker Score: 20570
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.37
    Marker Score: 97
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.35
    Marker Score: 114
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.34
    Marker Score: 376
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.33
    Marker Score: 86
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.32
    Marker Score: 384.5
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.31
    Marker Score: 404
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0.3
    Marker Score: 1248
  • Cell Name: promonocyte (CL0000559)
    Fold Change: 0.3
    Marker Score: 193
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.3
    Marker Score: 173
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.29
    Marker Score: 314
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 0.27
    Marker Score: 114
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.27
    Marker Score: 395
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.27
    Marker Score: 388.5
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.27
    Marker Score: 692
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.27
    Marker Score: 627
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.26
    Marker Score: 203
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.26
    Marker Score: 472
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.26
    Marker Score: 171
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.24
    Marker Score: 477
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.24
    Marker Score: 99
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.24
    Marker Score: 298
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.24
    Marker Score: 70
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 0.24
    Marker Score: 102.5
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.24
    Marker Score: 216
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.23
    Marker Score: 137.5
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.23
    Marker Score: 139
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.22
    Marker Score: 681
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.22
    Marker Score: 150
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.22
    Marker Score: 190
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.21
    Marker Score: 145
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.21
    Marker Score: 293
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.21
    Marker Score: 215
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.21
    Marker Score: 64
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.2
    Marker Score: 118
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.2
    Marker Score: 2358
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.2
    Marker Score: 73
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.19
    Marker Score: 86
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.19
    Marker Score: 756
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.18
    Marker Score: 115
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.18
    Marker Score: 170
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.17
    Marker Score: 86
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.17
    Marker Score: 60
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.17
    Marker Score: 60
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.17
    Marker Score: 3805
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.17
    Marker Score: 34

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Other Information

**Key characteristics:** - The KCNE1 gene is located on chromosome 19p13.1. - It is a member of the potassium channel superfamily. - It is a transmembrane protein with a molecular weight of approximately 140 kDa. - It is a key regulator of cardiac muscle cell action potential repolarization. **Pathways and functions:** - KCNE1 is involved in cardiac conduction by regulating the opening and closing of potassium channels in the heart. - It is also involved in epithelial cell maturation by promoting the expression of epithelial cell adhesion molecules. - It is involved in male gonad development by regulating the expression of genes involved in male reproductive development. - It is involved in muscle contraction by regulating the opening and closing of potassium channels in skeletal muscle cells. - It is involved in the Phase 2 - plateau phase of cardiac action potential repolarization. - It is involved in the Phase 3 - rapid repolarisation phase of cardiac action potential repolarization. **Clinical significance:** - Mutations in the KCNE1 gene have been linked to several human diseases, including hypertrophic cardiomyopathy, atrial fibrillation, and congenital heart defects. - Targeting the KCNE1 gene has been investigated as a therapeutic strategy for these diseases.

Genular Protein ID: 665693233

Symbol: KCNE1_HUMAN

Name: Potassium voltage-gated channel subfamily E member 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2730656

Title: Molecular cloning and sequence analysis of human genomic DNA encoding a novel membrane protein which exhibits a slowly activating potassium channel activity.

PubMed ID: 2730656

DOI: 10.1016/0006-291x(89)91577-5

PubMed ID: 7828904

Title: Polymorphism of the gene encoding a human minimal potassium ion channel (minK).

PubMed ID: 7828904

DOI: 10.1016/0378-1119(94)90685-8

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9312006

Title: Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.

PubMed ID: 9312006

DOI: 10.1093/emboj/16.17.5472

PubMed ID: 9230439

Title: A minK-HERG complex regulates the cardiac potassium current I(Kr).

PubMed ID: 9230439

DOI: 10.1038/40882

PubMed ID: 11874988

Title: Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism.

PubMed ID: 11874988

DOI: 10.1096/fj.01-0520hyp

PubMed ID: 19219384

Title: Regulation of the Kv2.1 potassium channel by MinK and MiRP1.

PubMed ID: 19219384

DOI: 10.1007/s00232-009-9154-8

PubMed ID: 20533308

Title: Impact of KCNE subunits on KCNQ1 (Kv7.1) channel membrane surface targeting.

PubMed ID: 20533308

DOI: 10.1002/jcp.22265

PubMed ID: 21676880

Title: Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane protein biogenesis and disease.

PubMed ID: 21676880

DOI: 10.1074/jbc.m111.235168

PubMed ID: 21669976

Title: O-glycosylation of the cardiac I(Ks) complex.

PubMed ID: 21669976

DOI: 10.1113/jphysiol.2011.211284

PubMed ID: 26307551

Title: A distinct three-helix centipede toxin SSD609 inhibits I(ks) channels by interacting with the KCNE1 auxiliary subunit.

PubMed ID: 26307551

DOI: 10.1038/srep13399

PubMed ID: 18611041

Title: Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel.

PubMed ID: 18611041

DOI: 10.1021/bi800875q

PubMed ID: 8899564

Title: Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome.

PubMed ID: 8899564

DOI: 10.1006/jmcc.1996.0198

PubMed ID: 9328483

Title: 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

DOI: 10.1093/hmg/6.12.2179

PubMed ID: 9354783

Title: KCNE1 mutations cause Jervell and Lange-Nielsen syndrome.

PubMed ID: 9354783

DOI: 10.1038/ng1197-267

PubMed ID: 9354802

Title: Mutations in the hminK gene cause long QT syndrome and suppress IKs function.

PubMed ID: 9354802

DOI: 10.1038/ng1197-338

PubMed ID: 9445165

Title: Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.

PubMed ID: 9445165

DOI: 10.1161/01.cir.97.2.142

PubMed ID: 10400998

Title: Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.

PubMed ID: 10400998

DOI: 10.1093/hmg/8.8.1499

PubMed ID: 10973849

Title: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

PubMed ID: 10973849

DOI: 10.1161/01.cir.102.10.1178

PubMed ID: 11692163

Title: A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype.

PubMed ID: 11692163

DOI: 10.1007/s001090100249

PubMed ID: 15051636

Title: Compound mutations: a common cause of severe long-QT syndrome.

PubMed ID: 15051636

DOI: 10.1161/01.cir.0000125524.34234.13

PubMed ID: 16414944

Title: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PubMed ID: 16414944

DOI: 10.1001/jama.294.23.2975

PubMed ID: 16823764

Title: The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss.

PubMed ID: 16823764

DOI: 10.1002/humu.20360

PubMed ID: 19716085

Title: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PubMed ID: 19716085

DOI: 10.1016/j.hrthm.2009.05.021

PubMed ID: 25037568

Title: Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP(2).

PubMed ID: 25037568

DOI: 10.1242/jcs.147033

Sequence Information:

  • Length: 129
  • Mass: 14675
  • Checksum: 5442D70929D4E87E
  • Sequence:
  • MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSSDG KLEALYVLMV LGFFGFFTLG 
    IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT 
    HLPETKPSP

Genular Protein ID: 3172409984

Symbol: Q6FHJ6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 19660109

Title: Positive selection at codon 38 of the human KCNE1 (= minK) gene and sporadic absence of 38Ser-coding mRNAs in Gly38Ser heterozygotes.

PubMed ID: 19660109

DOI: 10.1186/1471-2148-9-188

Sequence Information:

  • Length: 129
  • Mass: 14645
  • Checksum: 4843171C7DC1A92A
  • Sequence:
  • MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSGDG KLEALYVLMV LGFFGFFTLG 
    IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL ESYRSCYVVE NHLAIEQPNT 
    HLPETKPSP

Genular Protein ID: 4118027139

Symbol: A7LFK2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 17141204

Title: Characterization of the cardiac KCNE1 gene promoter.

PubMed ID: 17141204

DOI: 10.1016/j.cardiores.2006.10.022

Sequence Information:

  • Length: 49
  • Mass: 5380
  • Checksum: F50E6A49306FDB36
  • Sequence:
  • MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSSDG KLEALYVLI

Genular Protein ID: 1935254948

Symbol: A7LFK4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 17141204

Title: Characterization of the cardiac KCNE1 gene promoter.

PubMed ID: 17141204

DOI: 10.1016/j.cardiores.2006.10.022

Sequence Information:

  • Length: 48
  • Mass: 5267
  • Checksum: 0E6A49306FDB36F9
  • Sequence:
  • MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSSDG KLEALYVL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.