KCNE1
entrez
3753
canonical
uniprot
P15382
canonical
ensembl
ENSG00000180509
resolver
ensp
ENSP00000337255
resolver
ensp
ENSP00000382225
resolver
ensp
ENSP00000382226
resolver
ensp
ENSP00000382228
resolver
ensp
ENSP00000412498
resolver
ensp
ENSP00000416258
resolver
ensp
ENSP00000478215
resolver
ensp
ENSP00000483895
resolver
ensp
ENSP00000548267
resolver
ensp
ENSP00000548268
resolver
ensp
ENSP00000548269
resolver
ensp
ENSP00000548270
resolver
ensp
ENSP00000548271
resolver
ensp
ENSP00000612417
resolver
ensp
ENSP00000612418
resolver
enst
ENST00000337385
resolver
enst
ENST00000399284
resolver
enst
ENST00000399286
resolver
enst
ENST00000399289
resolver
enst
ENST00000416357
resolver
enst
ENST00000432085
resolver
enst
ENST00000611936
resolver
enst
ENST00000621601
resolver
enst
ENST00000878208
resolver
enst
ENST00000878209
resolver
enst
ENST00000878210
resolver
enst
ENST00000878211
resolver
enst
ENST00000878212
resolver
enst
ENST00000942358
resolver
enst
ENST00000942359
resolver
genesymbol
KCNE1
resolver
hgnc
HGNC:6240
resolver
uniprot
A5H1P2
resolver
uniprot
A7LFK2
resolver
uniprot
A7LFK4
resolver
uniprot
C7S316
resolver
uniprot
Q6FHJ6
resolver
uniprot
Q8N709
resolver
uniprot
Q91Z94
resolver
uniprot_entry
A7LFK2_HUMAN
resolver
uniprot_entry
A7LFK4_HUMAN
resolver
uniprot_entry
C7S316_HUMAN
resolver
uniprot_entry
KCNE1_HUMAN
resolver
uniprot_entry
Q6FHJ6_HUMAN
resolver
uniprot_sec
A5H1P2
resolver
uniprot_sec
Q8N709
resolver
uniprot_sec
Q91Z94
resolver
amino_acid_sequence
MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLGIMLSYIRSKKLEHSNDPFNVYIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNTHLPETKPSP
uniprot
proteins
disease_involvement
DISEASE: Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347]: An 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. {ECO:0000269|PubMed:10400998, ECO:0000269|PubMed:21676880, ECO:0000269|PubMed:9328483, ECO:0000269|PubMed:9354783}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Long QT syndrome 5 (LQT5) [MIM:613695]: A 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. {ECO:0000269|PubMed:10400998, ECO:0000269|PubMed:10973849, ECO:0000269|PubMed:11692163, ECO:0000269|PubMed:16414944, ECO:0000269|PubMed:19716085, ECO:0000269|PubMed:25037568, ECO:0000269|PubMed:9354802, ECO:0000269|PubMed:9445165}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
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). {ECO:0000269|PubMed:19219384, ECO:0000269|PubMed:20533308, ECO:0000269|PubMed:9230439, ECO:0000305}.
uniprot
proteins
mass_dalton
14675
uniprot
proteins
mutagenesis
MUTAGEN 5; /note="N->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."; /evidence="ECO:0000269|PubMed:21669976"; MUTAGEN 6; /note="T->F: No measurable effect on assembly with KCNQ1 or cell surface expression of the KCNE1/KCNQ1 channel complex. Loss of glycosylation at T-7."; /evidence="ECO:0000269|PubMed:21669976"; MUTAGEN 7; /note="T->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."; /evidence="ECO:0000269|PubMed:21669976"; MUTAGEN 15; /note="K->D: No change in inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609."; /evidence="ECO:0000269|PubMed:26307551"; MUTAGEN 19; /note="E->K: Loss inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609."; /evidence="ECO:0000269|PubMed:26307551"; MUTAGEN 28; /note="S->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."; /evidence="ECO:0000269|PubMed:21669976"; MUTAGEN 32; /note="R->D: Increase in inhibition of the complex KCNQ1-KCNE1 by the scolopendra toxin SSD609."; /evidence="ECO:0000269|PubMed:26307551"; MUTAGEN 69; /note="K->H: Lowers current 2-fold and leads to faster deactivation of KCNQ1/KCNE1 channel."; /evidence="ECO:0000269|PubMed:11874988"; MUTAGEN 109..129; /note="Missing: Totally suppressed interaction with KCNQ1 C-terminus."; /evidence="ECO:0000269|PubMed:25037568
uniprot
proteins
post_translational_modification
PTM: Phosphorylation inhibits the potassium current. {ECO:0000250}.; PTM: N-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-5. {ECO:0000269|PubMed:21669976, ECO:0000269|PubMed:21676880}.
uniprot
proteins
protein_family
Potassium channel KCNE family
uniprot
proteins
pubmed
10400998
uniprot
proteins
pubmed
10973849
uniprot
proteins
pubmed
11692163
uniprot
proteins
pubmed
11874988
uniprot
proteins
pubmed
15051636
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16414944
uniprot
proteins
pubmed
16823764
uniprot
proteins
pubmed
18611041
uniprot
proteins
pubmed
19219384
uniprot
proteins
pubmed
19716085
uniprot
proteins
pubmed
20533308
uniprot
proteins
pubmed
21669976
uniprot
proteins
pubmed
21676880
uniprot
proteins
pubmed
25037568
uniprot
proteins
pubmed
26307551
uniprot
proteins
pubmed
2730656
uniprot
proteins
pubmed
7828904
uniprot
proteins
pubmed
8899564
uniprot
proteins
pubmed
9230439
uniprot
proteins
pubmed
9312006
uniprot
proteins
pubmed
9328483
uniprot
proteins
pubmed
9354783
uniprot
proteins
pubmed
9354802
uniprot
proteins
pubmed
9445165
uniprot
proteins
sequence_length
129
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19219384}; Single-pass type I membrane protein {ECO:0000305}. Apical cell membrane {ECO:0000250|UniProtKB:P15383}. Membrane raft {ECO:0000269|PubMed:20533308}. Note=Colocalizes with KCNB1 at the plasma membrane (By similarity). Targets to the membrane raft when associated with KCNQ1 (PubMed:20533308). {ECO:0000250|UniProtKB:P15383, ECO:0000269|PubMed:20533308}.
uniprot
proteins
transmembrane_region
TRANSMEM 44..66; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins