P15382 · KCNE1_HUMAN
- ProteinPotassium voltage-gated channel subfamily E member 1
- GeneKCNE1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids129 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits. KCNE1 beta subunit modulates the gating kinetics and enhances stability of the channel complex (PubMed:19219384, PubMed:20533308, PubMed:9230439).
Alters the gating of the delayed rectifier Kv channel containing KCNB1 alpha subunit (PubMed:19219384).
Associates with KCNQ1/KVLQT1 alpha subunit to form the slowly activating delayed rectifier cardiac potassium (IKs) channel responsible for ventricular muscle action potential repolarization (PubMed:20533308).
The outward current reaches its steady state only after 50 seconds (Probable). Assembly with KCNH2/HERG alpha subunit Kv channel may regulate the rapidly activating component of the delayed rectifying potassium current (IKr) in heart (PubMed:9230439).
Alters the gating of the delayed rectifier Kv channel containing KCNB1 alpha subunit (PubMed:19219384).
Associates with KCNQ1/KVLQT1 alpha subunit to form the slowly activating delayed rectifier cardiac potassium (IKs) channel responsible for ventricular muscle action potential repolarization (PubMed:20533308).
The outward current reaches its steady state only after 50 seconds (Probable). Assembly with KCNH2/HERG alpha subunit Kv channel may regulate the rapidly activating component of the delayed rectifying potassium current (IKr) in heart (PubMed:9230439).
Features
Showing features for site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Site | 19 | Interacts with the scolopendra toxin SSD609 | ||||
Sequence: E |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended namePotassium voltage-gated channel subfamily E member 1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP15382
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Cell membrane ; Single-pass type I membrane protein
Note: Colocalizes with KCNB1 at the plasma membrane (By similarity).
Targets to the membrane raft when associated with KCNQ1 (PubMed:20533308).
Targets to the membrane raft when associated with KCNQ1 (PubMed:20533308).
Features
Showing features for transmembrane, topological domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transmembrane | 44-66 | Helical | ||||
Sequence: ALYVLMVLGFFGFFTLGIMLSYI | ||||||
Topological domain | 67-129 | Cytoplasmic | ||||
Sequence: RSKKLEHSNDPFNVYIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Jervell and Lange-Nielsen syndrome 2 (JLNS2)
- Note
- 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 alsoMIM:612347
Natural variants in JLNS2
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_008897 | 7 | T>I | in JLNS2; impairs glycosylation at N-5; dbSNP:rs28933384 | |
VAR_008898 | 47 | V>F | in JLNS2; dbSNP:rs199473353 | |
VAR_008899 | 51 | L>H | in JLNS2 | |
VAR_001559 | 58-59 | TL>PP | in JLNS2; dbSNP:rs281865421 | |
VAR_008901 | 76 | D>N | in LQT5 and JLNS2; suppresses KCNQ1 currents markedly; dbSNP:rs74315445 |
Long QT syndrome 5 (LQT5)
- Note
- 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 alsoMIM:613695
Natural variants in LQT5
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_074908 | 8 | A>V | in LQT5; uncertain significance; dbSNP:rs199473348 | |
VAR_074909 | 10 | T>M | in LQT5; uncertain significance; dbSNP:rs144917638 | |
VAR_074910 | 28 | S>L | in LQT5; uncertain significance; dbSNP:rs199473350 | |
VAR_009906 | 32 | R>H | in LQT5; uncertain significance; dbSNP:rs17857111 | |
VAR_074911 | 36 | R>H | in LQT5; uncertain significance; dbSNP:rs199473351 | |
VAR_074912 | 53 | F>S | in LQT5; uncertain significance; dbSNP:rs199473355 | |
VAR_074913 | 55 | G>S | in LQT5; uncertain significance; dbSNP:rs199473644 | |
VAR_074914 | 58 | T>P | in LQT5; uncertain significance; dbSNP:rs147187721 | |
VAR_074915 | 59 | L>P | in LQT5; uncertain significance; dbSNP:rs141813529 | |
VAR_074916 | 67 | R>C | in LQT5; uncertain significance; dbSNP:rs199473645 | |
VAR_074917 | 67 | R>H | in LQT5; uncertain significance; dbSNP:rs79654911 | |
VAR_074918 | 70 | K>M | in LQT5; uncertain significance; dbSNP:rs199473646 | |
VAR_008900 | 74 | S>L | in LQT5; dbSNP:rs74315446 | |
VAR_008901 | 76 | D>N | in LQT5 and JLNS2; suppresses KCNQ1 currents markedly; dbSNP:rs74315445 | |
VAR_074919 | 83 | E>K | in LQT5; uncertain significance; dbSNP:rs199473360 | |
VAR_008903 | 87 | W>R | in LQT5; dbSNP:rs199473361 | |
VAR_009907 | 98 | R>W | in LQT5; dbSNP:rs199473362 | |
VAR_012802 | 109 | V>I | in LQT5; uncertain significance; no effect on KCNQ1 C-terminus interaction; increases cAMP-mediated up-regulation of the I(KS) current; no effect on phosphorylation at S27; dbSNP:rs77442996 | |
VAR_074920 | 125 | T>M | in LQT5; uncertain significance; dbSNP:rs142511345 | |
VAR_009908 | 127 | P>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; dbSNP:rs199473647 |
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 5 | 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. | ||||
Sequence: N → Q | ||||||
Mutagenesis | 6 | No measurable effect on assembly with KCNQ1 or cell surface expression of the KCNE1/KCNQ1 channel complex. Loss of glycosylation at T-7. | ||||
Sequence: T → F | ||||||
Natural variant | VAR_008897 | 7 | in JLNS2; impairs glycosylation at N-5; dbSNP:rs28933384 | |||
Sequence: T → I | ||||||
Mutagenesis | 7 | 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. | ||||
Sequence: T → A | ||||||
Natural variant | VAR_074908 | 8 | in LQT5; uncertain significance; dbSNP:rs199473348 | |||
Sequence: A → V | ||||||
Natural variant | VAR_074909 | 10 | in LQT5; uncertain significance; dbSNP:rs144917638 | |||
Sequence: T → M | ||||||
Mutagenesis | 15 | No change in inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609. | ||||
Sequence: K → D | ||||||
Mutagenesis | 19 | Loss inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609. | ||||
Sequence: E → K | ||||||
Natural variant | VAR_074910 | 28 | in LQT5; uncertain significance; dbSNP:rs199473350 | |||
Sequence: S → L | ||||||
Mutagenesis | 28 | 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. | ||||
Sequence: S → T | ||||||
Natural variant | VAR_009906 | 32 | in LQT5; uncertain significance; dbSNP:rs17857111 | |||
Sequence: R → H | ||||||
Mutagenesis | 32 | Increase in inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609. | ||||
Sequence: R → D | ||||||
Natural variant | VAR_074911 | 36 | in LQT5; uncertain significance; dbSNP:rs199473351 | |||
Sequence: R → H | ||||||
Natural variant | VAR_001558 | 38 | in dbSNP:rs1805127 | |||
Sequence: S → G | ||||||
Natural variant | VAR_008898 | 47 | in JLNS2; dbSNP:rs199473353 | |||
Sequence: V → F | ||||||
Natural variant | VAR_008899 | 51 | in JLNS2 | |||
Sequence: L → H | ||||||
Natural variant | VAR_048024 | 52 | in dbSNP:rs17173509 | |||
Sequence: G → A | ||||||
Natural variant | VAR_074912 | 53 | in LQT5; uncertain significance; dbSNP:rs199473355 | |||
Sequence: F → S | ||||||
Natural variant | VAR_074913 | 55 | in LQT5; uncertain significance; dbSNP:rs199473644 | |||
Sequence: G → S | ||||||
Natural variant | VAR_074914 | 58 | in LQT5; uncertain significance; dbSNP:rs147187721 | |||
Sequence: T → P | ||||||
Natural variant | VAR_001559 | 58-59 | in JLNS2; dbSNP:rs281865421 | |||
Sequence: TL → PP | ||||||
Natural variant | VAR_074915 | 59 | in LQT5; uncertain significance; dbSNP:rs141813529 | |||
Sequence: L → P | ||||||
Natural variant | VAR_074916 | 67 | in LQT5; uncertain significance; dbSNP:rs199473645 | |||
Sequence: R → C | ||||||
Natural variant | VAR_074917 | 67 | in LQT5; uncertain significance; dbSNP:rs79654911 | |||
Sequence: R → H | ||||||
Mutagenesis | 69 | Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel. | ||||
Sequence: K → H | ||||||
Natural variant | VAR_074918 | 70 | in LQT5; uncertain significance; dbSNP:rs199473646 | |||
Sequence: K → M | ||||||
Natural variant | VAR_008900 | 74 | in LQT5; dbSNP:rs74315446 | |||
Sequence: S → L | ||||||
Natural variant | VAR_008901 | 76 | in LQT5 and JLNS2; suppresses KCNQ1 currents markedly; dbSNP:rs74315445 | |||
Sequence: D → N | ||||||
Natural variant | VAR_074919 | 83 | in LQT5; uncertain significance; dbSNP:rs199473360 | |||
Sequence: E → K | ||||||
Natural variant | VAR_008902 | 85 | predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential compared to the wild-type channel; dbSNP:rs1805128 | |||
Sequence: D → N | ||||||
Natural variant | VAR_008903 | 87 | in LQT5; dbSNP:rs199473361 | |||
Sequence: W → R | ||||||
Natural variant | VAR_009907 | 98 | in LQT5; dbSNP:rs199473362 | |||
Sequence: R → W | ||||||
Natural variant | VAR_012802 | 109 | in LQT5; uncertain significance; no effect on KCNQ1 C-terminus interaction; increases cAMP-mediated up-regulation of the I(KS) current; no effect on phosphorylation at S27; dbSNP:rs77442996 | |||
Sequence: V → I | ||||||
Mutagenesis | 109-129 | Totally suppressed interaction with KCNQ1 C-terminus. | ||||
Sequence: Missing | ||||||
Natural variant | VAR_074920 | 125 | in LQT5; uncertain significance; dbSNP:rs142511345 | |||
Sequence: T → M | ||||||
Natural variant | VAR_009908 | 127 | 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; dbSNP:rs199473647 | |||
Sequence: P → T |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 223 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for chain, glycosylation, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000144278 | 1-129 | Potassium voltage-gated channel subfamily E member 1 | |||
Sequence: MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNVYIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP | ||||||
Glycosylation | 5 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Glycosylation | 7 | O-linked (GalNAc...) threonine | ||||
Sequence: T | ||||||
Glycosylation | 26 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Modified residue | 102 | Phosphoserine; by PKC | ||||
Sequence: S |
Post-translational modification
Phosphorylation inhibits the potassium current.
N-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-5.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
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
Not detected in pancreas, spleen, prostate and colon. Restrictively localized in the apical membrane portion of epithelial cells
Gene expression databases
Organism-specific databases
Interaction
Subunit
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).
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).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P15382 | KCNQ1 P51787 | 4 | EBI-7043557, EBI-359667 | |
XENO | P15382 | Tcap A6HIS0 | 3 | EBI-7043557, EBI-8784724 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 109-129 | interaction with KCNQ1 C-terminus | ||||
Sequence: VENHLAIEQPNTHLPETKPSP |
Sequence similarities
Belongs to the potassium channel KCNE family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length129
- Mass (Da)14,675
- Last updated1990-04-01 v1
- Checksum5442D70929D4E87E
Sequence caution
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
M26685 EMBL· GenBank· DDBJ | AAA36129.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
L33815 EMBL· GenBank· DDBJ | AAA63905.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
L28168 EMBL· GenBank· DDBJ | AAA58418.1 EMBL· GenBank· DDBJ | mRNA | ||
AF135188 EMBL· GenBank· DDBJ | AAD25096.1 EMBL· GenBank· DDBJ | mRNA | ||
DQ784803 EMBL· GenBank· DDBJ | ABQ01238.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC036452 EMBL· GenBank· DDBJ | AAH36452.1 EMBL· GenBank· DDBJ | mRNA | Sequence problems. |