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Protein

Potassium voltage-gated channel subfamily E member 1

Gene

KCNE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 KCNB1 modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1 (PubMed:19219384). 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).1 Publication

GO - Molecular functioni

  • delayed rectifier potassium channel activity Source: UniProtKB
  • potassium channel regulator activity Source: UniProtKB
  • telethonin binding Source: BHF-UCL

GO - Biological processi

  • cardiac conduction Source: Reactome
  • cardiac muscle cell action potential involved in contraction Source: BHF-UCL
  • cellular response to cAMP Source: BHF-UCL
  • membrane repolarization Source: BHF-UCL
  • membrane repolarization during action potential Source: BHF-UCL
  • membrane repolarization during cardiac muscle cell action potential Source: BHF-UCL
  • membrane repolarization during ventricular cardiac muscle cell action potential Source: BHF-UCL
  • negative regulation of delayed rectifier potassium channel activity Source: UniProtKB
  • negative regulation of protein targeting to membrane Source: BHF-UCL
  • positive regulation of potassium ion transmembrane transport Source: BHF-UCL
  • potassium ion export Source: BHF-UCL
  • potassium ion transmembrane transport Source: BHF-UCL
  • protein N-linked glycosylation Source: UniProtKB
  • protein O-linked glycosylation Source: UniProtKB
  • regulation of delayed rectifier potassium channel activity Source: BHF-UCL
  • regulation of heart rate by cardiac conduction Source: BHF-UCL
  • regulation of potassium ion transmembrane transport Source: BHF-UCL
  • regulation of ventricular cardiac muscle cell membrane repolarization Source: BHF-UCL
  • sensory perception of sound Source: ProtInc
  • ventricular cardiac muscle cell action potential Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Potassium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Potassium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000180509-MONOMER.
ReactomeiR-HSA-5576890. Phase 3 - rapid repolarisation.
R-HSA-5576893. Phase 2 - plateau phase.
SIGNORiP15382.

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily E member 1
Alternative name(s):
Delayed rectifier potassium channel subunit IsK
IKs producing slow voltage-gated potassium channel subunit beta Mink
Minimal potassium channel
Gene namesi
Name:KCNE1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:6240. KCNE1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei44 – 66HelicalSequence analysisAdd BLAST23
Topological domaini67 – 129CytoplasmicSequence analysisAdd BLAST63

GO - Cellular componenti

  • apical plasma membrane Source: BHF-UCL
  • cell surface Source: BHF-UCL
  • lysosome Source: UniProtKB
  • membrane raft Source: UniProtKB-SubCell
  • plasma membrane Source: UniProtKB
  • voltage-gated potassium channel complex Source: BHF-UCL
  • Z disc Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Jervell and Lange-Nielsen syndrome 2 (JLNS2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:612347
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0088977T → I in JLNS2; impairs glycosylation at N-5. 2 PublicationsCorresponds to variant rs28933384dbSNPEnsembl.1
Natural variantiVAR_00889847V → F in JLNS2. 1 PublicationCorresponds to variant rs199473353dbSNPEnsembl.1
Natural variantiVAR_00889951L → H in JLNS2. 1 Publication1
Natural variantiVAR_00155958 – 59TL → PP in JLNS2. Corresponds to variant rs281865421dbSNPEnsembl.2
Natural variantiVAR_00890176D → N in LQT5 and JLNS2; suppresses KCNQ1 currents markedly. 5 PublicationsCorresponds to variant rs74315445dbSNPEnsembl.1
Long QT syndrome 5 (LQT5)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613695
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0749088A → V in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473348dbSNPEnsembl.1
Natural variantiVAR_07490910T → M in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs144917638dbSNPEnsembl.1
Natural variantiVAR_07491028S → L in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473350dbSNPEnsembl.1
Natural variantiVAR_00990632R → H in LQT5; unknown pathological significance. 3 PublicationsCorresponds to variant rs17857111dbSNPEnsembl.1
Natural variantiVAR_07491136R → H in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473351dbSNPEnsembl.1
Natural variantiVAR_07491253F → S in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473355dbSNPEnsembl.1
Natural variantiVAR_07491355G → S in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473644dbSNPEnsembl.1
Natural variantiVAR_07491458T → P in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs147187721dbSNPEnsembl.1
Natural variantiVAR_07491559L → P in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs141813529dbSNPEnsembl.1
Natural variantiVAR_07491667R → C in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473645dbSNPEnsembl.1
Natural variantiVAR_07491767R → H in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs79654911dbSNPEnsembl.1
Natural variantiVAR_07491870K → M in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473646dbSNPEnsembl.1
Natural variantiVAR_00890074S → L in LQT5. 1 PublicationCorresponds to variant rs74315446dbSNPEnsembl.1
Natural variantiVAR_00890176D → N in LQT5 and JLNS2; suppresses KCNQ1 currents markedly. 5 PublicationsCorresponds to variant rs74315445dbSNPEnsembl.1
Natural variantiVAR_07491983E → K in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473360dbSNPEnsembl.1
Natural variantiVAR_00890285D → N Predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential compared to the wild-type channel. 3 PublicationsCorresponds to variant rs1805128dbSNPEnsembl.1
Natural variantiVAR_00890387W → R in LQT5. 1 PublicationCorresponds to variant rs199473361dbSNPEnsembl.1
Natural variantiVAR_00990798R → W in LQT5. 1 PublicationCorresponds to variant rs199473362dbSNPEnsembl.1
Natural variantiVAR_012802109V → I in LQT5; mild phenotype; no effect on KCNQ1 C-terminus interaction; increases cAMP-mediated up-regulation of the I(KS) current; no effect on phosphorylation at S27. 2 PublicationsCorresponds to variant rs77442996dbSNPEnsembl.1
Natural variantiVAR_074920125T → M in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs142511345dbSNPEnsembl.1
Natural variantiVAR_009908127P → T in LQT5; moderately reduces I(KS) current density; no change of the voltage dependence of channel activation; markedly reduces interaction with KCNQ1 C-terminus; no effect on plasma membrane localization; loss of cAMP-mediated up-regulation of the I(KS) current; no effect on interaction with AKAP9; impairs phosphorylation at S-27 during cAMP-dependent stimulation. 2 PublicationsCorresponds to variant rs199473647dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi5N → Q: No measurable effect on assembly with KCNQ1 or cell surface expression of the KCNE1/KCNQ1 channel complex, and loss of glycosylation at N-5; when associated with T-28. 1 Publication1
Mutagenesisi6T → F: No measurable effect on assembly with KCNQ1 or cell surface expression of the KCNE1/KCNQ1 channel complex. Loss of glycosylation at T-7. 1 Publication1
Mutagenesisi7T → A: 50% reduction of cell surface expression of the KCNE1/KCNQ1 channel complex, and loss of glycosylation at N-5 and T-7; when associated with T-28. 1 Publication1
Mutagenesisi28S → T: No measurable effect on assembly with KCNQ1 or cell surface expression of the KCNE1/KCNQ1 channel complex, and loss of glycosylation at N-5; when associated with Q-5. 50% reduction of cell surface expression of the KCNE1/KCNQ1 channel complex, and loss of glycosylation at N-5 and T-7; when associated with A-7. 1 Publication1
Mutagenesisi69K → H: Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel. 1 Publication1
Mutagenesisi109 – 129Missing : Totally suppressed interaction with KCNQ1 C-terminus. 1 PublicationAdd BLAST21

Keywords - Diseasei

Deafness, Disease mutation, Long QT syndrome

Organism-specific databases

DisGeNETi3753.
MalaCardsiKCNE1.
MIMi612347. phenotype.
613695. phenotype.
OpenTargetsiENSG00000180509.
Orphaneti334. Familial atrial fibrillation.
90647. Jervell and Lange-Nielsen syndrome.
101016. Romano-Ward syndrome.
PharmGKBiPA211.

Chemistry databases

ChEMBLiCHEMBL4872.
DrugBankiDB00808. Indapamide.

Polymorphism and mutation databases

BioMutaiKCNE1.
DMDMi116416.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001442781 – 129Potassium voltage-gated channel subfamily E member 1Add BLAST129

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi5N-linked (GlcNAc...)2 Publications1
Glycosylationi7O-linked (GalNAc...)1 Publication1
Glycosylationi26N-linked (GlcNAc...)1 Publication1
Modified residuei102Phosphoserine; by PKCBy similarity1

Post-translational modificationi

Phosphorylation inhibits the potassium current.By similarity
N-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-5.2 Publications

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP15382.
PRIDEiP15382.

PTM databases

iPTMnetiP15382.
PhosphoSitePlusiP15382.

Expressioni

Tissue specificityi

Expressed in lung, kidney, testis, ovaries, small intestine, peripheral blood leukocytes. Expressed in the heart (PubMed:19219384). Not detected in pancreas, spleen, prostate and colon. Restrictively localized in the apical membrane portion of epithelial cells.2 Publications

Gene expression databases

BgeeiENSG00000180509.
CleanExiHS_KCNE1.
ExpressionAtlasiP15382. baseline and differential.
GenevisibleiP15382. HS.

Interactioni

Subunit structurei

Interacts with KCNB1. Interacts with KCNC2 (By similarity). Associates with KCNH2/HERG (PubMed:9230439). Interacts with KNCQ1; targets the complex KNCQ1-KCNE1 to the membrane raft (PubMed:20533308).By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
KCNQ1P517874EBI-7043557,EBI-359667
TcapA6HIS03EBI-7043557,EBI-8784724From a different organism.

GO - Molecular functioni

  • telethonin binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi109955. 5 interactors.
IntActiP15382. 4 interactors.
MINTiMINT-7297782.
STRINGi9606.ENSP00000337255.

Chemistry databases

BindingDBiP15382.

Structurei

Secondary structure

1129
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi4 – 9Combined sources6
Helixi13 – 22Combined sources10
Helixi30 – 32Combined sources3
Helixi46 – 71Combined sources26
Turni77 – 81Combined sources5
Turni84 – 86Combined sources3
Helixi92 – 105Combined sources14
Beta strandi114 – 116Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2K21NMR-A1-129[»]
ProteinModelPortaliP15382.
SMRiP15382.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP15382.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni109 – 129interaction with KCNQ1 C-terminus1 PublicationAdd BLAST21

Sequence similaritiesi

Belongs to the potassium channel KCNE family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IY71. Eukaryota.
ENOG410Y1SF. LUCA.
GeneTreeiENSGT00510000048994.
HOGENOMiHOG000113207.
HOVERGENiHBG052226.
InParanoidiP15382.
KOiK04894.
OMAiALYILMV.
OrthoDBiEOG091G0UDJ.
PhylomeDBiP15382.
TreeFamiTF335976.

Family and domain databases

InterProiIPR000369. K_chnl_KCNE.
IPR005424. K_chnl_volt-dep_bsu_KCNE1.
[Graphical view]
PfamiPF02060. ISK_Channel. 1 hit.
[Graphical view]
PRINTSiPR01604. KCNE1CHANNEL.
PR00168. KCNECHANNEL.

Sequencei

Sequence statusi: Complete.

P15382-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MILSNTTAVT PFLTKLWQET VQQGGNMSGL ARRSPRSSDG KLEALYVLMV
60 70 80 90 100
LGFFGFFTLG IMLSYIRSKK LEHSNDPFNV YIESDAWQEK DKAYVQARVL
110 120
ESYRSCYVVE NHLAIEQPNT HLPETKPSP
Length:129
Mass (Da):14,675
Last modified:April 1, 1990 - v1
Checksum:i5442D70929D4E87E
GO

Sequence cautioni

The sequence AAH36452 differs from that shown. Reason: Erroneous termination at position 106. Translated as Cys.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0088977T → I in JLNS2; impairs glycosylation at N-5. 2 PublicationsCorresponds to variant rs28933384dbSNPEnsembl.1
Natural variantiVAR_0749088A → V in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473348dbSNPEnsembl.1
Natural variantiVAR_07490910T → M in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs144917638dbSNPEnsembl.1
Natural variantiVAR_07491028S → L in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473350dbSNPEnsembl.1
Natural variantiVAR_00990632R → H in LQT5; unknown pathological significance. 3 PublicationsCorresponds to variant rs17857111dbSNPEnsembl.1
Natural variantiVAR_07491136R → H in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473351dbSNPEnsembl.1
Natural variantiVAR_00155838S → G.3 PublicationsCorresponds to variant rs1805127dbSNPEnsembl.1
Natural variantiVAR_00889847V → F in JLNS2. 1 PublicationCorresponds to variant rs199473353dbSNPEnsembl.1
Natural variantiVAR_00889951L → H in JLNS2. 1 Publication1
Natural variantiVAR_04802452G → A.Corresponds to variant rs17173509dbSNPEnsembl.1
Natural variantiVAR_07491253F → S in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473355dbSNPEnsembl.1
Natural variantiVAR_07491355G → S in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473644dbSNPEnsembl.1
Natural variantiVAR_00155958 – 59TL → PP in JLNS2. Corresponds to variant rs281865421dbSNPEnsembl.2
Natural variantiVAR_07491458T → P in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs147187721dbSNPEnsembl.1
Natural variantiVAR_07491559L → P in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs141813529dbSNPEnsembl.1
Natural variantiVAR_07491667R → C in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473645dbSNPEnsembl.1
Natural variantiVAR_07491767R → H in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs79654911dbSNPEnsembl.1
Natural variantiVAR_07491870K → M in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473646dbSNPEnsembl.1
Natural variantiVAR_00890074S → L in LQT5. 1 PublicationCorresponds to variant rs74315446dbSNPEnsembl.1
Natural variantiVAR_00890176D → N in LQT5 and JLNS2; suppresses KCNQ1 currents markedly. 5 PublicationsCorresponds to variant rs74315445dbSNPEnsembl.1
Natural variantiVAR_07491983E → K in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs199473360dbSNPEnsembl.1
Natural variantiVAR_00890285D → N Predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential compared to the wild-type channel. 3 PublicationsCorresponds to variant rs1805128dbSNPEnsembl.1
Natural variantiVAR_00890387W → R in LQT5. 1 PublicationCorresponds to variant rs199473361dbSNPEnsembl.1
Natural variantiVAR_00990798R → W in LQT5. 1 PublicationCorresponds to variant rs199473362dbSNPEnsembl.1
Natural variantiVAR_012802109V → I in LQT5; mild phenotype; no effect on KCNQ1 C-terminus interaction; increases cAMP-mediated up-regulation of the I(KS) current; no effect on phosphorylation at S27. 2 PublicationsCorresponds to variant rs77442996dbSNPEnsembl.1
Natural variantiVAR_074920125T → M in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant rs142511345dbSNPEnsembl.1
Natural variantiVAR_009908127P → T in LQT5; moderately reduces I(KS) current density; no change of the voltage dependence of channel activation; markedly reduces interaction with KCNQ1 C-terminus; no effect on plasma membrane localization; loss of cAMP-mediated up-regulation of the I(KS) current; no effect on interaction with AKAP9; impairs phosphorylation at S-27 during cAMP-dependent stimulation. 2 PublicationsCorresponds to variant rs199473647dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M26685 Genomic DNA. Translation: AAA36129.1.
L33815 Genomic DNA. Translation: AAA63905.1.
L28168 mRNA. Translation: AAA58418.1.
AF135188 mRNA. Translation: AAD25096.1.
DQ784803 Genomic DNA. Translation: ABQ01238.1.
BC036452 mRNA. Translation: AAH36452.1. Sequence problems.
CCDSiCCDS13636.1.
PIRiA32447.
RefSeqiNP_000210.2. NM_000219.5.
NP_001121140.1. NM_001127668.3.
NP_001121141.1. NM_001127669.3.
NP_001121142.1. NM_001127670.3.
NP_001257331.1. NM_001270402.2.
NP_001257332.1. NM_001270403.2.
NP_001257333.1. NM_001270404.2.
NP_001257334.1. NM_001270405.2.
UniGeneiHs.121495.
Hs.745384.

Genome annotation databases

EnsembliENST00000337385; ENSP00000337255; ENSG00000180509.
ENST00000399284; ENSP00000382225; ENSG00000180509.
ENST00000399286; ENSP00000382226; ENSG00000180509.
ENST00000399289; ENSP00000382228; ENSG00000180509.
ENST00000416357; ENSP00000416258; ENSG00000180509.
ENST00000432085; ENSP00000412498; ENSG00000180509.
ENST00000611936; ENSP00000478215; ENSG00000180509.
ENST00000621601; ENSP00000483895; ENSG00000180509.
GeneIDi3753.
KEGGihsa:3753.
UCSCiuc002ytz.5. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M26685 Genomic DNA. Translation: AAA36129.1.
L33815 Genomic DNA. Translation: AAA63905.1.
L28168 mRNA. Translation: AAA58418.1.
AF135188 mRNA. Translation: AAD25096.1.
DQ784803 Genomic DNA. Translation: ABQ01238.1.
BC036452 mRNA. Translation: AAH36452.1. Sequence problems.
CCDSiCCDS13636.1.
PIRiA32447.
RefSeqiNP_000210.2. NM_000219.5.
NP_001121140.1. NM_001127668.3.
NP_001121141.1. NM_001127669.3.
NP_001121142.1. NM_001127670.3.
NP_001257331.1. NM_001270402.2.
NP_001257332.1. NM_001270403.2.
NP_001257333.1. NM_001270404.2.
NP_001257334.1. NM_001270405.2.
UniGeneiHs.121495.
Hs.745384.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2K21NMR-A1-129[»]
ProteinModelPortaliP15382.
SMRiP15382.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109955. 5 interactors.
IntActiP15382. 4 interactors.
MINTiMINT-7297782.
STRINGi9606.ENSP00000337255.

Chemistry databases

BindingDBiP15382.
ChEMBLiCHEMBL4872.
DrugBankiDB00808. Indapamide.

PTM databases

iPTMnetiP15382.
PhosphoSitePlusiP15382.

Polymorphism and mutation databases

BioMutaiKCNE1.
DMDMi116416.

Proteomic databases

PaxDbiP15382.
PRIDEiP15382.

Protocols and materials databases

DNASUi3753.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000337385; ENSP00000337255; ENSG00000180509.
ENST00000399284; ENSP00000382225; ENSG00000180509.
ENST00000399286; ENSP00000382226; ENSG00000180509.
ENST00000399289; ENSP00000382228; ENSG00000180509.
ENST00000416357; ENSP00000416258; ENSG00000180509.
ENST00000432085; ENSP00000412498; ENSG00000180509.
ENST00000611936; ENSP00000478215; ENSG00000180509.
ENST00000621601; ENSP00000483895; ENSG00000180509.
GeneIDi3753.
KEGGihsa:3753.
UCSCiuc002ytz.5. human.

Organism-specific databases

CTDi3753.
DisGeNETi3753.
GeneCardsiKCNE1.
GeneReviewsiKCNE1.
HGNCiHGNC:6240. KCNE1.
MalaCardsiKCNE1.
MIMi176261. gene.
612347. phenotype.
613695. phenotype.
neXtProtiNX_P15382.
OpenTargetsiENSG00000180509.
Orphaneti334. Familial atrial fibrillation.
90647. Jervell and Lange-Nielsen syndrome.
101016. Romano-Ward syndrome.
PharmGKBiPA211.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IY71. Eukaryota.
ENOG410Y1SF. LUCA.
GeneTreeiENSGT00510000048994.
HOGENOMiHOG000113207.
HOVERGENiHBG052226.
InParanoidiP15382.
KOiK04894.
OMAiALYILMV.
OrthoDBiEOG091G0UDJ.
PhylomeDBiP15382.
TreeFamiTF335976.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000180509-MONOMER.
ReactomeiR-HSA-5576890. Phase 3 - rapid repolarisation.
R-HSA-5576893. Phase 2 - plateau phase.
SIGNORiP15382.

Miscellaneous databases

ChiTaRSiKCNE1. human.
EvolutionaryTraceiP15382.
GeneWikiiKCNE1.
GenomeRNAii3753.
PROiP15382.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000180509.
CleanExiHS_KCNE1.
ExpressionAtlasiP15382. baseline and differential.
GenevisibleiP15382. HS.

Family and domain databases

InterProiIPR000369. K_chnl_KCNE.
IPR005424. K_chnl_volt-dep_bsu_KCNE1.
[Graphical view]
PfamiPF02060. ISK_Channel. 1 hit.
[Graphical view]
PRINTSiPR01604. KCNE1CHANNEL.
PR00168. KCNECHANNEL.
ProtoNetiSearch...

Entry informationi

Entry nameiKCNE1_HUMAN
AccessioniPrimary (citable) accession number: P15382
Secondary accession number(s): A5H1P2, Q8N709, Q91Z94
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1990
Last modified: November 2, 2016
This is version 179 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.