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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 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).

GO - Molecular functioni

  • potassium channel regulator activity Source: UniProtKB
  • telethonin binding Source: BHF-UCL
  • voltage-gated potassium channel activity Source: InterPro

GO - Biological processi

  • 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
  • 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

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
ProteomesiUP000005640 Componenti: Chromosome 21

Organism-specific databases

HGNCiHGNC:6240. KCNE1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei44 – 6623HelicalSequence AnalysisAdd
BLAST
Topological domaini67 – 12963CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  • apical plasma membrane Source: BHF-UCL
  • cell surface Source: BHF-UCL
  • lysosome Source: UniProtKB
  • 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71T → I in JLNS2; impairs glycosylation at N-5. 2 Publications
Corresponds to variant rs28933384 [ dbSNP | Ensembl ].
VAR_008897
Natural varianti47 – 471V → F in JLNS2. 1 Publication
VAR_008898
Natural varianti51 – 511L → H in JLNS2. 1 Publication
VAR_008899
Natural varianti58 – 592TL → PP in JLNS2.
VAR_001559
Natural varianti76 – 761D → N in LQT5 and JLNS2; suppresses KCNQ1 currents markedly. 4 Publications
VAR_008901
Long QT syndrome 5 (LQT5)5 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321R → H in LQT5; uncertain pathological significance. 2 Publications
Corresponds to variant rs17857111 [ dbSNP | Ensembl ].
VAR_009906
Natural varianti74 – 741S → L in LQT5. 1 Publication
VAR_008900
Natural varianti76 – 761D → N in LQT5 and JLNS2; suppresses KCNQ1 currents markedly. 4 Publications
VAR_008901
Natural varianti85 – 851D → N Predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential compared to the wild-type channel. 3 Publications
Corresponds to variant rs1805128 [ dbSNP | Ensembl ].
VAR_008902
Natural varianti87 – 871W → R in LQT5. 1 Publication
VAR_008903
Natural varianti98 – 981R → W in LQT5. 1 Publication
VAR_009907
Natural varianti109 – 1091V → I in LQT5; mild phenotype; significantly reduced the wild-type I(KS) current amplitude. 1 Publication
VAR_012802
Natural varianti127 – 1271P → T in LQT5. 1 Publication
VAR_009908

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi5 – 51N → 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 Publication
Mutagenesisi6 – 61T → 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 Publication
Mutagenesisi7 – 71T → 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 Publication
Mutagenesisi28 – 281S → 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 Publication
Mutagenesisi69 – 691K → H: Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel. 1 Publication

Keywords - Diseasei

Deafness, Disease mutation, Long QT syndrome

Organism-specific databases

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

Chemistry

DrugBankiDB00808. Indapamide.

Polymorphism and mutation databases

BioMutaiKCNE1.
DMDMi116416.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 129129Potassium voltage-gated channel subfamily E member 1PRO_0000144278Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi5 – 51N-linked (GlcNAc...)2 Publications
Glycosylationi7 – 71O-linked (GalNAc...)1 Publication
Glycosylationi26 – 261N-linked (GlcNAc...)1 Publication
Modified residuei102 – 1021Phosphoserine; by PKCBy similarity

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

PhosphoSiteiP15382.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiP15382.
CleanExiHS_KCNE1.
ExpressionAtlasiP15382. baseline.
GenevisibleiP15382. HS.

Organism-specific databases

HPAiHPA013752.

Interactioni

Subunit structurei

Associates with KCNQ1/KVLQT1. Heteromultimer with KCNC2. Interacts with KCNC2 (By similarity). Associates with KCNH2/HERG (PubMed:9230439).By similarity1 Publication

Binary interactionsi

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

Protein-protein interaction databases

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

Structurei

Secondary structure

1
129
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi4 – 96Combined sources
Helixi13 – 2210Combined sources
Helixi30 – 323Combined sources
Helixi46 – 7126Combined sources
Turni77 – 815Combined sources
Turni84 – 863Combined sources
Helixi92 – 10514Combined sources
Beta strandi114 – 1163Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2K21NMR-A1-129[»]
ProteinModelPortaliP15382.
SMRiP15382. Positions 1-129.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP15382.

Family & Domainsi

Sequence similaritiesi

Belongs to the potassium channel KCNE family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG41824.
GeneTreeiENSGT00510000048994.
HOGENOMiHOG000113207.
HOVERGENiHBG052226.
InParanoidiP15382.
KOiK04894.
OMAiALYILMV.
OrthoDBiEOG7WMCMH.
PhylomeDBiP15382.
TreeFamiTF335976.

Family and domain databases

InterProiIPR000369. K_chnl_KCNE.
IPR005424. K_chnl_volt-dep_bsu_KCNE1.
[Graphical view]
PANTHERiPTHR17028. PTHR17028. 1 hit.
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 AAH36452.1 differs from that shown. Reason: Erroneous termination at position 106. Translated as Cys.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71T → I in JLNS2; impairs glycosylation at N-5. 2 Publications
Corresponds to variant rs28933384 [ dbSNP | Ensembl ].
VAR_008897
Natural varianti32 – 321R → H in LQT5; uncertain pathological significance. 2 Publications
Corresponds to variant rs17857111 [ dbSNP | Ensembl ].
VAR_009906
Natural varianti38 – 381S → G.3 Publications
Corresponds to variant rs1805127 [ dbSNP | Ensembl ].
VAR_001558
Natural varianti47 – 471V → F in JLNS2. 1 Publication
VAR_008898
Natural varianti51 – 511L → H in JLNS2. 1 Publication
VAR_008899
Natural varianti52 – 521G → A.
Corresponds to variant rs17173509 [ dbSNP | Ensembl ].
VAR_048024
Natural varianti58 – 592TL → PP in JLNS2.
VAR_001559
Natural varianti74 – 741S → L in LQT5. 1 Publication
VAR_008900
Natural varianti76 – 761D → N in LQT5 and JLNS2; suppresses KCNQ1 currents markedly. 4 Publications
VAR_008901
Natural varianti85 – 851D → N Predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential compared to the wild-type channel. 3 Publications
Corresponds to variant rs1805128 [ dbSNP | Ensembl ].
VAR_008902
Natural varianti87 – 871W → R in LQT5. 1 Publication
VAR_008903
Natural varianti98 – 981R → W in LQT5. 1 Publication
VAR_009907
Natural varianti109 – 1091V → I in LQT5; mild phenotype; significantly reduced the wild-type I(KS) current amplitude. 1 Publication
VAR_012802
Natural varianti127 – 1271P → T in LQT5. 1 Publication
VAR_009908

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.4. 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
EntryMethodResolution (Å)ChainPositionsPDBsum
2K21NMR-A1-129[»]
ProteinModelPortaliP15382.
SMRiP15382. Positions 1-129.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

Chemistry

BindingDBiP15382.
ChEMBLiCHEMBL4872.
DrugBankiDB00808. Indapamide.

PTM databases

PhosphoSiteiP15382.

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.4. human.

Organism-specific databases

CTDi3753.
GeneCardsiGC21M035818.
GeneReviewsiKCNE1.
HGNCiHGNC:6240. KCNE1.
HPAiHPA013752.
MIMi176261. gene.
612347. phenotype.
613695. phenotype.
neXtProtiNX_P15382.
Orphaneti334. Familial atrial fibrillation.
90647. Jervell and Lange-Nielsen syndrome.
101016. Romano-Ward syndrome.
PharmGKBiPA211.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG41824.
GeneTreeiENSGT00510000048994.
HOGENOMiHOG000113207.
HOVERGENiHBG052226.
InParanoidiP15382.
KOiK04894.
OMAiALYILMV.
OrthoDBiEOG7WMCMH.
PhylomeDBiP15382.
TreeFamiTF335976.

Miscellaneous databases

ChiTaRSiKCNE1. human.
EvolutionaryTraceiP15382.
GeneWikiiKCNE1.
GenomeRNAii3753.
NextBioi14697.
PROiP15382.
SOURCEiSearch...

Gene expression databases

BgeeiP15382.
CleanExiHS_KCNE1.
ExpressionAtlasiP15382. baseline.
GenevisibleiP15382. HS.

Family and domain databases

InterProiIPR000369. K_chnl_KCNE.
IPR005424. K_chnl_volt-dep_bsu_KCNE1.
[Graphical view]
PANTHERiPTHR17028. PTHR17028. 1 hit.
PfamiPF02060. ISK_Channel. 1 hit.
[Graphical view]
PRINTSiPR01604. KCNE1CHANNEL.
PR00168. KCNECHANNEL.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and sequence analysis of human genomic DNA encoding a novel membrane protein which exhibits a slowly activating potassium channel activity."
    Murai T., Kakizuka A., Takumi T., Ohkubo H., Nakanishi S.
    Biochem. Biophys. Res. Commun. 161:176-181(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  2. "Polymorphism of the gene encoding a human minimal potassium ion channel (minK)."
    Lai L.P., Deng C.L., Moss A.J., Kass R.S., Liang C.S.
    Gene 151:339-340(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLY-38.
    Tissue: Leukocyte.
  3. "Delayed rectifier potassium channel subunit from human cornea epithelium."
    Rae J.L.
    Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Cornea.
  4. NHLBI resequencing and genotyping service (RS&G)
    Submitted (JUN-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS HIS-32 AND GLY-38.
    Tissue: Testis.
  6. "Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias."
    Chouabe C., Neyroud N., Guicheney P., Lazdunski M., Romey G., Barhanin J.
    EMBO J. 16:5472-5479(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  7. "A minK-HERG complex regulates the cardiac potassium current I(Kr)."
    McDonald T.V., Yu Z., Ming Z., Palma E., Meyers M.B., Wang K.-W., Goldstein S.A.N., Fishman G.I.
    Nature 388:289-292(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH KCNH2.
  8. "Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism."
    Abbott G.W., Goldstein S.A.N.
    FASEB J. 16:390-400(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: MUTAGENESIS OF LYS-69.
  9. "Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane protein biogenesis and disease."
    Bas T., Gao G.Y., Lvov A., Chandrasekhar K.D., Gilmore R., Kobertz W.R.
    J. Biol. Chem. 286:28150-28159(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT ASN-5 AND ASN-26, CHARACTERIZATION OF VARIANT JLNS2 ILE-7.
  10. Cited for: GLYCOSYLATION AT ASN-5 AND THR-7, MUTAGENESIS OF ASN-5; THR-6; THR-7 AND SER-28.
  11. "Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel."
    Kang C., Tian C., Soennichsen F.D., Smith J.A., Meiler J., George A.L. Jr., Vanoye C.G., Kim H.J., Sanders C.R.
    Biochemistry 47:7999-8006(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR.
  12. "Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome."
    Tesson F., Donger C., Denjoy I., Berthet M., Bennaceur M., Petit C., Coumel P., Schwartz K., Guicheney P.
    J. Mol. Cell. Cardiol. 28:2051-2055(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASN-85.
  13. "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."
    Tyson J., Tranebjaerg L., Bellman S., Wren C., Taylor J.F.N., Bathen J., Aslaksen B., Soerland S.J., Lund O., Malcolm S., Pembrey M., Bhattacharya S., Bitner-Glindzicz M.
    Hum. Mol. Genet. 6:2179-2185(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT JLNS2 58-PRO-PRO-59.
  14. Cited for: VARIANTS JLNS2 ILE-7 AND ASN-76.
  15. "Mutations in the hminK gene cause long QT syndrome and suppress IKs function."
    Splawski I., Tristani-Firouzi M., Lehmann M.H., Sanguinetti M.C., Keating M.T.
    Nat. Genet. 17:338-340(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LQT5 LEU-74 AND ASN-76.
  16. "Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome."
    Duggal P., Vesely M.R., Wattanasirichaigoon D., Villafane J., Kaushik V., Beggs A.H.
    Circulation 97:142-146(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LQT5 ASN-76.
  17. "Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome."
    Bianchi L., Shen Z., Dennis A.T., Priori S.G., Napolitano C., Ronchetti E., Bryskin R., Schwartz P.J., Brown A.M.
    Hum. Mol. Genet. 8:1499-1507(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS JLNS2 PHE-47; HIS-51 AND ASN-76, VARIANT LQT5 ARG-87.
  18. Cited for: VARIANTS LQT5 HIS-32; TRP-98 AND THR-127.
  19. "A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype."
    Schulze-Bahr E., Schwarz M., Hauenschild S., Wedekind H., Funke H., Haverkamp W., Breithardt W., Pongs O., Isbrandt D., Breithardt G.
    J. Mol. Med. 79:504-509(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LQT5 ILE-109.
  20. "Compound mutations: a common cause of severe long-QT syndrome."
    Westenskow P., Splawski I., Timothy K.W., Keating M.T., Sanguinetti M.C.
    Circulation 109:1834-1841(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ASN-85.
  21. "The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss."
    Van Laer L., Carlsson P.-I., Ottschytsch N., Bondeson M.-L., Konings A., Vandevelde A., Dieltjens N., Fransen E., Snyders D., Borg E., Raes A., Van Camp G.
    Hum. Mutat. 27:786-795(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLY-38 AND ASN-85, CHARACTERIZATION OF VARIANT ASN-85.

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: June 24, 2015
This is version 165 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

External Data

Dasty 3

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 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.