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Entry version 201 (17 Jun 2020)
Sequence version 1 (01 Apr 1990)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei19Interacts with the scolopendra toxin SSD6091 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIon channel, Potassium channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5576890 Phase 3 - rapid repolarisation
R-HSA-5576893 Phase 2 - plateau phase

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P15382

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KCNE1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 21

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000180509.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6240 KCNE1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
176261 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P15382

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei44 – 66HelicalSequence analysisAdd BLAST23
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini67 – 129CytoplasmicSequence analysisAdd BLAST63

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Jervell and Lange-Nielsen syndrome 2 (JLNS2)4 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0088977T → I in JLNS2; impairs glycosylation at N-5. 2 PublicationsCorresponds to variant dbSNP:rs28933384EnsemblClinVar.1
Natural variantiVAR_00889847V → F in JLNS2. 1 PublicationCorresponds to variant dbSNP:rs199473353EnsemblClinVar.1
Natural variantiVAR_00889951L → H in JLNS2. 1 Publication1
Natural variantiVAR_00155958 – 59TL → PP in JLNS2. Corresponds to variant dbSNP:rs281865421Ensembl.2
Natural variantiVAR_00890176D → N in LQT5 and JLNS2; suppresses KCNQ1 currents markedly. 5 PublicationsCorresponds to variant dbSNP:rs74315445EnsemblClinVar.1
Long QT syndrome 5 (LQT5)8 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0749088A → V in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473348EnsemblClinVar.1
Natural variantiVAR_07490910T → M in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144917638EnsemblClinVar.1
Natural variantiVAR_07491028S → L in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473350EnsemblClinVar.1
Natural variantiVAR_00990632R → H in LQT5; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs17857111EnsemblClinVar.1
Natural variantiVAR_07491136R → H in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473351EnsemblClinVar.1
Natural variantiVAR_07491253F → S in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473355EnsemblClinVar.1
Natural variantiVAR_07491355G → S in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473644EnsemblClinVar.1
Natural variantiVAR_07491458T → P in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs147187721EnsemblClinVar.1
Natural variantiVAR_07491559L → P in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141813529EnsemblClinVar.1
Natural variantiVAR_07491667R → C in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473645EnsemblClinVar.1
Natural variantiVAR_07491767R → H in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs79654911EnsemblClinVar.1
Natural variantiVAR_07491870K → M in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473646EnsemblClinVar.1
Natural variantiVAR_00890074S → L in LQT5. 1 PublicationCorresponds to variant dbSNP:rs74315446EnsemblClinVar.1
Natural variantiVAR_00890176D → N in LQT5 and JLNS2; suppresses KCNQ1 currents markedly. 5 PublicationsCorresponds to variant dbSNP:rs74315445EnsemblClinVar.1
Natural variantiVAR_07491983E → K in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473360EnsemblClinVar.1
Natural variantiVAR_00890387W → R in LQT5. 1 PublicationCorresponds to variant dbSNP:rs199473361EnsemblClinVar.1
Natural variantiVAR_00990798R → W in LQT5. 1 PublicationCorresponds to variant dbSNP:rs199473362EnsemblClinVar.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 dbSNP:rs77442996EnsemblClinVar.1
Natural variantiVAR_074920125T → M in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142511345EnsemblClinVar.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 dbSNP:rs199473647EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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
Mutagenesisi15K → D: No change in inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609. 1 Publication1
Mutagenesisi19E → K: Loss inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609. 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
Mutagenesisi32R → D: Increase in inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609. 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

DisGeNET

More...
DisGeNETi
3753

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
KCNE1

MalaCards human disease database

More...
MalaCardsi
KCNE1
MIMi612347 phenotype
613695 phenotype

Open Targets

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OpenTargetsi
ENSG00000180509

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
334 Familial atrial fibrillation
90647 Jervell and Lange-Nielsen syndrome
101016 Romano-Ward syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA211

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
P15382 Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL4872

Drug and drug target database

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DrugBanki
DB04957 Azimilide

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KCNE1

Domain mapping of disease mutations (DMDM)

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DMDMi
116416

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001442781 – 129Potassium voltage-gated channel subfamily E member 1Add BLAST129

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi5N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi7O-linked (GalNAc...) threonine1 Publication1
Glycosylationi26N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei102Phosphoserine; by PKCBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P15382

PRoteomics IDEntifications database

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PRIDEi
P15382

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
53134

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P15382

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P15382

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000180509 Expressed in blood and 81 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P15382 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P15382 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000180509 Tissue enhanced (fallopian)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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). The complex KNCQ1-KNCE1 interacts with the scolopendra toxin SSD609 (PubMed:26307551).

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
109955, 23 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-3072 Voltage-gated potassium channel complex variant 1
CPX-3271 KCNQ1-KCNE1 I(Ks) channel complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P15382

Protein interaction database and analysis system

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IntActi
P15382, 4 interactors

Molecular INTeraction database

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MINTi
P15382

STRING: functional protein association networks

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STRINGi
9606.ENSP00000337255

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P15382

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P15382 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1129
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P15382

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P15382

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni109 – 129interaction with KCNQ1 C-terminus1 PublicationAdd BLAST21

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the potassium channel KCNE family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IY71 Eukaryota
ENOG410Y1SF LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154497

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_159026_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P15382

KEGG Orthology (KO)

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KOi
K04894

Identification of Orthologs from Complete Genome Data

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OMAi
ESCRACY

Database of Orthologous Groups

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OrthoDBi
1452030at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P15382

TreeFam database of animal gene trees

More...
TreeFami
TF335976

Family and domain databases

Database of protein disorder

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DisProti
DP00796

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000369 K_chnl_KCNE
IPR005424 K_chnl_volt-dep_bsu_KCNE1

The PANTHER Classification System

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PANTHERi
PTHR15282 PTHR15282, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02060 ISK_Channel, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01604 KCNE1CHANNEL
PR00168 KCNECHANNEL

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5442D70929D4E87E
GO

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH36452 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0088977T → I in JLNS2; impairs glycosylation at N-5. 2 PublicationsCorresponds to variant dbSNP:rs28933384EnsemblClinVar.1
Natural variantiVAR_0749088A → V in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473348EnsemblClinVar.1
Natural variantiVAR_07490910T → M in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144917638EnsemblClinVar.1
Natural variantiVAR_07491028S → L in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473350EnsemblClinVar.1
Natural variantiVAR_00990632R → H in LQT5; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs17857111EnsemblClinVar.1
Natural variantiVAR_07491136R → H in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473351EnsemblClinVar.1
Natural variantiVAR_00155838S → G3 PublicationsCorresponds to variant dbSNP:rs1805127EnsemblClinVar.1
Natural variantiVAR_00889847V → F in JLNS2. 1 PublicationCorresponds to variant dbSNP:rs199473353EnsemblClinVar.1
Natural variantiVAR_00889951L → H in JLNS2. 1 Publication1
Natural variantiVAR_04802452G → A. Corresponds to variant dbSNP:rs17173509EnsemblClinVar.1
Natural variantiVAR_07491253F → S in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473355EnsemblClinVar.1
Natural variantiVAR_07491355G → S in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473644EnsemblClinVar.1
Natural variantiVAR_00155958 – 59TL → PP in JLNS2. Corresponds to variant dbSNP:rs281865421Ensembl.2
Natural variantiVAR_07491458T → P in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs147187721EnsemblClinVar.1
Natural variantiVAR_07491559L → P in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs141813529EnsemblClinVar.1
Natural variantiVAR_07491667R → C in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473645EnsemblClinVar.1
Natural variantiVAR_07491767R → H in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs79654911EnsemblClinVar.1
Natural variantiVAR_07491870K → M in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473646EnsemblClinVar.1
Natural variantiVAR_00890074S → L in LQT5. 1 PublicationCorresponds to variant dbSNP:rs74315446EnsemblClinVar.1
Natural variantiVAR_00890176D → N in LQT5 and JLNS2; suppresses KCNQ1 currents markedly. 5 PublicationsCorresponds to variant dbSNP:rs74315445EnsemblClinVar.1
Natural variantiVAR_07491983E → K in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199473360EnsemblClinVar.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 dbSNP:rs1805128EnsemblClinVar.1
Natural variantiVAR_00890387W → R in LQT5. 1 PublicationCorresponds to variant dbSNP:rs199473361EnsemblClinVar.1
Natural variantiVAR_00990798R → W in LQT5. 1 PublicationCorresponds to variant dbSNP:rs199473362EnsemblClinVar.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 dbSNP:rs77442996EnsemblClinVar.1
Natural variantiVAR_074920125T → M in LQT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142511345EnsemblClinVar.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 dbSNP:rs199473647EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS13636.1

Protein sequence database of the Protein Information Resource

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PIRi
A32447

NCBI Reference Sequences

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RefSeqi
NP_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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000337385; ENSP00000337255; ENSG00000180509
ENST00000399284; ENSP00000382225; ENSG00000180509
ENST00000399286; ENSP00000382226; ENSG00000180509
ENST00000399289; ENSP00000382228; ENSG00000180509
ENST00000416357; ENSP00000416258; ENSG00000180509
ENST00000432085; ENSP00000412498; ENSG00000180509
ENST00000611936; ENSP00000478215; ENSG00000180509
ENST00000621601; ENSP00000483895; ENSG00000180509

Database of genes from NCBI RefSeq genomes

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GeneIDi
3753

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3753

UCSC genome browser

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UCSCi
uc002ytz.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2K21NMR-A1-129[»]
SMRiP15382
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109955, 23 interactors
ComplexPortaliCPX-3072 Voltage-gated potassium channel complex variant 1
CPX-3271 KCNQ1-KCNE1 I(Ks) channel complex
CORUMiP15382
IntActiP15382, 4 interactors
MINTiP15382
STRINGi9606.ENSP00000337255

Chemistry databases

BindingDBiP15382
ChEMBLiCHEMBL4872
DrugBankiDB04957 Azimilide

PTM databases

iPTMnetiP15382
PhosphoSitePlusiP15382

Polymorphism and mutation databases

BioMutaiKCNE1
DMDMi116416

Proteomic databases

PaxDbiP15382
PRIDEiP15382
ProteomicsDBi53134

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
22953 255 antibodies

The DNASU plasmid repository

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DNASUi
3753

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

Comparative Toxicogenomics Database

More...
CTDi
3753
DisGeNETi3753
EuPathDBiHostDB:ENSG00000180509.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KCNE1
GeneReviewsiKCNE1
HGNCiHGNC:6240 KCNE1
HPAiENSG00000180509 Tissue enhanced (fallopian)
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

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IY71 Eukaryota
ENOG410Y1SF LUCA
GeneTreeiENSGT00940000154497
HOGENOMiCLU_159026_0_0_1
InParanoidiP15382
KOiK04894
OMAiESCRACY
OrthoDBi1452030at2759
PhylomeDBiP15382
TreeFamiTF335976

Enzyme and pathway databases

ReactomeiR-HSA-5576890 Phase 3 - rapid repolarisation
R-HSA-5576893 Phase 2 - plateau phase
SIGNORiP15382

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
3753 2 hits in 787 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
KCNE1 human
EvolutionaryTraceiP15382

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
KCNE1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
3753
PharosiP15382 Tbio

Protein Ontology

More...
PROi
PR:P15382
RNActiP15382 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000180509 Expressed in blood and 81 other tissues
ExpressionAtlasiP15382 baseline and differential
GenevisibleiP15382 HS

Family and domain databases

DisProtiDP00796
InterProiView protein in InterPro
IPR000369 K_chnl_KCNE
IPR005424 K_chnl_volt-dep_bsu_KCNE1
PANTHERiPTHR15282 PTHR15282, 1 hit
PfamiView protein in Pfam
PF02060 ISK_Channel, 1 hit
PRINTSiPR01604 KCNE1CHANNEL
PR00168 KCNECHANNEL

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKCNE1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P15382
Secondary accession number(s): A5H1P2, Q8N709, Q91Z94
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: April 1, 1990
Last modified: June 17, 2020
This is version 201 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

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