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)
  • Cardiac muscle cell contraction
    (GO:0086003)
  • 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 potassium ion transport
    (GO:0043266)
  • 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)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 36.0024
    Cell Significance Index: -5.6000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 21.8811
    Cell Significance Index: -5.5500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 10.9645
    Cell Significance Index: -5.6400
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 6.7148
    Cell Significance Index: 97.8700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 4.5703
    Cell Significance Index: -5.6400
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 3.3853
    Cell Significance Index: 49.1500
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.8977
    Cell Significance Index: 28.0100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.3113
    Cell Significance Index: -2.8700
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.6554
    Cell Significance Index: 11.0400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.6042
    Cell Significance Index: 13.2300
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.5833
    Cell Significance Index: 7.2200
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.2767
    Cell Significance Index: 2.7400
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.2606
    Cell Significance Index: 2.5500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.2554
    Cell Significance Index: 4.7200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1128
    Cell Significance Index: 4.9900
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: 0.1126
    Cell Significance Index: 0.4900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0917
    Cell Significance Index: 50.0800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0891
    Cell Significance Index: 6.8400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0774
    Cell Significance Index: 2.9300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0689
    Cell Significance Index: 19.8200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0672
    Cell Significance Index: 9.7700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0307
    Cell Significance Index: 6.1600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0152
    Cell Significance Index: 1.7700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.0098
    Cell Significance Index: 0.0800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0061
    Cell Significance Index: 11.2800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0028
    Cell Significance Index: 1.0200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0022
    Cell Significance Index: 3.3300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0019
    Cell Significance Index: 0.1300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0012
    Cell Significance Index: 2.2100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0007
    Cell Significance Index: 0.4500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0012
    Cell Significance Index: -0.2100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0023
    Cell Significance Index: -3.0900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0042
    Cell Significance Index: -1.9100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0057
    Cell Significance Index: -2.5400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0059
    Cell Significance Index: -0.7600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0064
    Cell Significance Index: -4.8700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0071
    Cell Significance Index: -5.2300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0072
    Cell Significance Index: -5.3000
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: -0.0083
    Cell Significance Index: -0.0900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0095
    Cell Significance Index: -5.3400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0103
    Cell Significance Index: -2.0400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0104
    Cell Significance Index: -1.7700
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: -0.0109
    Cell Significance Index: -0.1000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0137
    Cell Significance Index: -1.7500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0184
    Cell Significance Index: -0.3200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0213
    Cell Significance Index: -2.6200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0234
    Cell Significance Index: -2.3900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0264
    Cell Significance Index: -5.5600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0301
    Cell Significance Index: -4.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0329
    Cell Significance Index: -3.7700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0472
    Cell Significance Index: -2.2000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0474
    Cell Significance Index: -0.7000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0485
    Cell Significance Index: -5.0500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0487
    Cell Significance Index: -3.1400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0504
    Cell Significance Index: -2.3700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0512
    Cell Significance Index: -2.3200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0514
    Cell Significance Index: -2.6700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0573
    Cell Significance Index: -3.6100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0584
    Cell Significance Index: -4.3500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0615
    Cell Significance Index: -3.7800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0709
    Cell Significance Index: -1.4700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0794
    Cell Significance Index: -5.6200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0887
    Cell Significance Index: -4.9800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0928
    Cell Significance Index: -5.6900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0933
    Cell Significance Index: -4.9000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0936
    Cell Significance Index: -3.2800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0985
    Cell Significance Index: -2.0900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1041
    Cell Significance Index: -3.8200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1066
    Cell Significance Index: -3.4900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1080
    Cell Significance Index: -3.4400
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: -0.1082
    Cell Significance Index: -1.5400
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: -0.1087
    Cell Significance Index: -1.2700
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.1104
    Cell Significance Index: -1.6800
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: -0.1146
    Cell Significance Index: -1.0100
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -0.1151
    Cell Significance Index: -2.2500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1174
    Cell Significance Index: -3.2800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1212
    Cell Significance Index: -4.2600
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.1254
    Cell Significance Index: -1.7400
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1267
    Cell Significance Index: -5.5100
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1303
    Cell Significance Index: -4.1200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1307
    Cell Significance Index: -3.1900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1307
    Cell Significance Index: -3.0200
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.1314
    Cell Significance Index: -1.8500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1319
    Cell Significance Index: -3.8000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1361
    Cell Significance Index: -3.8900
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: -0.1471
    Cell Significance Index: -1.9600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1479
    Cell Significance Index: -5.1400
  • Cell Name: myelocyte (CL0002193)
    Fold Change: -0.1497
    Cell Significance Index: -1.6000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1517
    Cell Significance Index: -3.9000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1551
    Cell Significance Index: -3.8700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1619
    Cell Significance Index: -3.3800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1641
    Cell Significance Index: -3.9400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1653
    Cell Significance Index: -4.5000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1659
    Cell Significance Index: -3.2800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1686
    Cell Significance Index: -5.4000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1703
    Cell Significance Index: -3.6800
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.1714
    Cell Significance Index: -2.4100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1723
    Cell Significance Index: -4.6000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1731
    Cell Significance Index: -5.1000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1736
    Cell Significance Index: -4.3300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Subunit structure:** KCNE1 is a regulatory subunit that interacts with voltage-gated potassium channels, influencing their activity and function. 2. **Expression patterns:** KCNE1 is highly expressed in cardiac muscle cells, as well as in other cell types such as epicardial adipocytes, intestinal crypt stem cells, and professional antigen-presenting cells. 3. **Protein interactions:** KCNE1 interacts with various proteins, including voltage-gated potassium channels, telethonin, and transmembrane transporters, to regulate potassium channel activity. **Pathways and Functions:** 1. **Cardiac conduction:** KCNE1 plays a critical role in regulating cardiac conduction by modulating the activity of voltage-gated potassium channels, which are essential for the repolarization of cardiac muscle cells. 2. **Muscle contraction:** KCNE1 also regulates muscle contraction by modulating potassium channel activity, which affects the excitability of muscle cells. 3. **Regulation of potassium channels:** KCNE1 acts as a negative regulator of delayed rectifier potassium channels, ensuring proper potassium channel activity and preventing excessive potassium efflux. 4. **Cellular response to stimuli:** KCNE1 is involved in cellular responses to various stimuli, including acidic pH, cyclic AMP, and light, by regulating potassium channel activity. **Clinical Significance:** 1. **Cardiac arrhythmias:** Alterations in KCNE1 expression or function have been implicated in the development of cardiac arrhythmias, such as long QT syndrome. 2. **Muscle disorders:** KCNE1 mutations have been linked to muscle disorders, including muscular dystrophy and myotonia congenita. 3. **Other diseases:** KCNE1 has also been implicated in various other diseases, including cancer, neurological disorders, and inflammatory conditions. In conclusion, KCNE1 is a critical gene that regulates potassium channels in various cellular processes, including cardiac conduction and muscle contraction. Its dysregulation has been implicated in various diseases, highlighting the importance of understanding its function and mechanisms of action. As an immunologist, I hope this discussion has shed light on the significance of KCNE1 and its role in maintaining cellular homeostasis.

Genular Protein ID: 665693233

Symbol: KCNE1_HUMAN

Name: Potassium voltage-gated channel subfamily E member 1

UniProtKB Accession Codes:

P15382 A5H1P2 Q8N709 Q91Z94

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 4 EMBL 6 Ensembl 8 EvolutionaryTrace 1 ExpressionAtlas 1 GO 37 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 2 RefSeq 8 SIGNOR 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

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: 1935254948

Symbol: A7LFK4_HUMAN

Name: N/A

UniProtKB Accession Codes:

A7LFK4

Database IDs:

ARBA 4 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 4 InterPro 2 NCBI Taxonomy 1 PRINTS 1 Pfam 1 RefSeq 1

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

Genular Protein ID: 3172409984

Symbol: Q6FHJ6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6FHJ6

Database IDs:

ARBA 6 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 9 GO 12 IntAct 1 InterPro 2 KEGG 1 NCBI Taxonomy 1 PANTHER 2 PRINTS 2 Pfam 1 PharmGKB 1 RefSeq 1 SAM 1 SMR 1 TCDB 1

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:

A7LFK2

Database IDs:

ARBA 4 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 3 GO 4 InterPro 2 NCBI Taxonomy 1 PRINTS 1 Pfam 1 RefSeq 2

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

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.