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MGP001715

UniProt Annotations

Entry Information
Gene Namepotassium channel, voltage gated subfamily E regulatory beta subunit 1
Protein EntryKCNE1_HUMAN
UniProt IDP15382
SpeciesHuman
Comments
Comment typeDescription
DiseaseJervell 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:9328483, ECO:0000269|PubMed:9354783}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseLong 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:9354802, ECO:0000269|PubMed:9445165}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAncillary 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).
InteractionP51787:KCNQ1; NbExp=4; IntAct=EBI-7043557, EBI-359667; A6HIS0:Tcap (xeno); NbExp=3; IntAct=EBI-7043557, EBI-8784724;
PtmN-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-5. {ECO:0000269|PubMed:21669976, ECO:0000269|PubMed:21676880}.
PtmPhosphorylation inhibits the potassium current. {ECO:0000250}.
Sequence CautionSequence=AAH36452.1; Type=Erroneous termination; Positions=106; Note=Translated as Cys.; Evidence={ECO:0000305};
SimilarityBelongs to the potassium channel KCNE family. {ECO:0000305}.
Subcellular LocationMembrane; Single-pass type I membrane protein.
SubunitAssociates with KCNQ1/KVLQT1 and KCNH2/HERG.
Tissue SpecificityExpressed 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. {ECO:0000269|PubMed:9312006}.
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