KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1)

Gene

• Entrez ID: 3753
• Gene name: Potassium voltage-gated channel subfamily E regulatory subunit 1
• Gene symbol: KCNE1
• Synonyms: ISK, JLNS, JLNS2, LQT2/5, LQT5, MinK
• Chromosome: 21
• Chromosome location: 21q22.12
• Summary: The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1805128	C>T	Pathogenic, risk-factor, likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign, other	Missense variant, coding sequence variant
rs28933384	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs74315445	C>T	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs74315446	G>A,C	Pathogenic, uncertain-significance, not-provided	Missense variant, coding sequence variant
rs79654911	C>A,T	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs142511345	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, coding sequence variant
rs149338401	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs199473351	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, not-provided	Missense variant, coding sequence variant
rs199473362	G>A,C,T	Pathogenic, uncertain-significance, likely-pathogenic, not-provided	Synonymous variant, missense variant, coding sequence variant
rs199473645	G>A,C,T	Uncertain-significance, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs281865421	CAGGGT>AGGGGG	Pathogenic	Missense variant, coding sequence variant
rs747321794	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs750349088	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs758346045	G>A,T	Pathogenic, likely-benign	Synonymous variant, stop gained, coding sequence variant
rs779124360	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064793159	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691762	->A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1244688796	C>T	Pathogenic	Stop gained, coding sequence variant
rs1402178514	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555843953	TGGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1568835906	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1568836457	CAGGGTGAAGAAGCC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1601044831	->G	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002924	hsa-miR-1-3p	Luciferase reporter assay, Western blot, 5\'RACE, Real time RT-PCR	17443681
MIRT002924	hsa-miR-1-3p	qRT-PCR	21169019
MIRT038264	hsa-miR-361-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	17289006
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA	21873635
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	24269949
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	8900283, 9354802, 10400998, 11299204, 12522251, 19646991
GO:0005515	Function	Protein binding	IPI	11101505, 11697903, 19521339, 20196769, 20533308, 25037568
GO:0005764	Component	Lysosome	HDA	16780588
GO:0005886	Component	Plasma membrane	HDA	16780588
GO:0005886	Component	Plasma membrane	IDA	19219384
GO:0005886	Component	Plasma membrane	TAS
GO:0007605	Process	Sensory perception of sound	TAS	9020846
GO:0008076	Component	Voltage-gated potassium channel complex	IBA	21873635
GO:0008076	Component	Voltage-gated potassium channel complex	IC	8900283
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	17289006, 19646991
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	19219384
GO:0009986	Component	Cell surface	IDA	10400998
GO:0015459	Function	Potassium channel regulator activity	IBA	21873635
GO:0015459	Function	Potassium channel regulator activity	IDA	8900283, 10400998, 11220365, 12522251, 19219384
GO:0016324	Component	Apical plasma membrane	ISS
GO:0030018	Component	Z disc	ISS	11697903
GO:0031433	Function	Telethonin binding	IPI	11697903
GO:0044325	Function	Ion channel binding	IBA	21873635
GO:0045121	Component	Membrane raft	IEA
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IBA	21873635
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	9354802
GO:0061337	Process	Cardiac conduction	TAS
GO:0071320	Process	Cellular response to cAMP	IDA	11299204
GO:0071805	Process	Potassium ion transmembrane transport	IDA	8900283, 9354802, 11299204
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	10400998
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IBA	21873635
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	9354802
GO:0086008	Function	Voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IDA	10400998
GO:0086009	Process	Membrane repolarization	IDA	8900283
GO:0086011	Process	Membrane repolarization during action potential	IBA	21873635
GO:0086011	Process	Membrane repolarization during action potential	IDA	8900283, 11299204, 19646991
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	IDA	8900283
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	IMP	10400998
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IBA	21873635
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	10400998
GO:0090315	Process	Negative regulation of protein targeting to membrane	ISS
GO:0097623	Process	Potassium ion export across plasma membrane	IBA	21873635
GO:0097623	Process	Potassium ion export across plasma membrane	IDA	8900283, 10400998, 17289006
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IMP	9354802
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IDA	10400998
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IDA	8900283
GO:1902259	Process	Regulation of delayed rectifier potassium channel activity	IDA	10400998
GO:1902260	Process	Negative regulation of delayed rectifier potassium channel activity	IBA	21873635
GO:1902260	Process	Negative regulation of delayed rectifier potassium channel activity	IDA	19219384
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IBA	21873635
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP	9354802

Other IDs

• MIM: 176261
• HGNC: 6240
• e!Ensembl: ENSG00000180509

Protein

• UniProt ID: P15382
• Protein name: Potassium voltage-gated channel subfamily E member 1 (Delayed rectifier potassium channel subunit IsK) (IKs producing slow voltage-gated potassium channel subunit beta Mink) (Minimal potassium channel)
• Protein function: 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).
• PDB: 2K21
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02060	ISK_Channel	2 → 126	Slow voltage-gated potassium channel	Family

• Sequence:

  MILSNTTAVTPFLTKLWQETVQQGGNMSGLARRSPRSSDGKLEALYVLMVLGFFGFFTLG
  IMLSYIRSKKLEHSNDPFNVYIESDAWQEKDKAYVQARVLESYRSCYVVENHLAIEQPNT
  HLPETKPSP

• Sequence length: 129