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

Gene

3753

Potassium voltage-gated channel subfamily E regulatory subunit 1

KCNE1

ISK, JLNS, JLNS2, LQT2/5, LQT5, MinK

21q22.12

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

Show/Hide all(23)

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

Show/Hide all(113)

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	Luciferase reporter assay, Western blot, 5'RACE, Real time RT-PCR	17443681
MIRT002924	hsa-miR-1-3p	Luciferase reporter assay, Western blot, 5'RACE, Real time RT-PCR	17443681
MIRT002924	hsa-miR-1-3p	Luciferase reporter assay, Western blot, 5'RACE, Real time RT-PCR	17443681
MIRT002924	hsa-miR-1-3p	Luciferase reporter assay, Western blot	17443681
MIRT002924	hsa-miR-1-3p	Luciferase reporter assay, Western blot	17443681
MIRT002924	hsa-miR-1-3p	qRT-PCR	21169019
MIRT038264	hsa-miR-361-3p	CLASH	23622248
MIRT1080751	hsa-miR-1262	CLIP-seq
MIRT1080752	hsa-miR-1286	CLIP-seq
MIRT1080753	hsa-miR-1293	CLIP-seq
MIRT1080754	hsa-miR-2110	CLIP-seq
MIRT1080755	hsa-miR-2392	CLIP-seq
MIRT1080756	hsa-miR-3124-3p	CLIP-seq
MIRT1080757	hsa-miR-3148	CLIP-seq
MIRT1080758	hsa-miR-3159	CLIP-seq
MIRT1080759	hsa-miR-326	CLIP-seq
MIRT1080760	hsa-miR-330-5p	CLIP-seq
MIRT1080761	hsa-miR-3690	CLIP-seq
MIRT1080762	hsa-miR-3944-5p	CLIP-seq
MIRT1080763	hsa-miR-4254	CLIP-seq
MIRT1080764	hsa-miR-4270	CLIP-seq
MIRT1080765	hsa-miR-4271	CLIP-seq
MIRT1080766	hsa-miR-4441	CLIP-seq
MIRT1080767	hsa-miR-4460	CLIP-seq
MIRT1080768	hsa-miR-4462	CLIP-seq
MIRT1080769	hsa-miR-4483	CLIP-seq
MIRT1080770	hsa-miR-4638-3p	CLIP-seq
MIRT1080771	hsa-miR-4668-5p	CLIP-seq
MIRT1080772	hsa-miR-4701-3p	CLIP-seq
MIRT1080773	hsa-miR-4722-5p	CLIP-seq
MIRT1080774	hsa-miR-4725-3p	CLIP-seq
MIRT1080775	hsa-miR-4727-3p	CLIP-seq
MIRT1080776	hsa-miR-4742-5p	CLIP-seq
MIRT1080777	hsa-miR-4761-5p	CLIP-seq
MIRT1080778	hsa-miR-491-5p	CLIP-seq
MIRT1080779	hsa-miR-576-3p	CLIP-seq
MIRT1080780	hsa-miR-1181	CLIP-seq
MIRT1080781	hsa-miR-1183	CLIP-seq
MIRT1080782	hsa-miR-1202	CLIP-seq
MIRT1080783	hsa-miR-1265	CLIP-seq
MIRT1080752	hsa-miR-1286	CLIP-seq
MIRT1080784	hsa-miR-145	CLIP-seq
MIRT1080785	hsa-miR-146b-3p	CLIP-seq
MIRT1080786	hsa-miR-183	CLIP-seq
MIRT1080787	hsa-miR-198	CLIP-seq
MIRT1080788	hsa-miR-200b	CLIP-seq
MIRT1080789	hsa-miR-200c	CLIP-seq
MIRT1080790	hsa-miR-3140-3p	CLIP-seq
MIRT1080791	hsa-miR-323b-3p	CLIP-seq
MIRT1080792	hsa-miR-330-3p	CLIP-seq
MIRT1080793	hsa-miR-3622b-5p	CLIP-seq
MIRT1080794	hsa-miR-3657	CLIP-seq
MIRT1080795	hsa-miR-3909	CLIP-seq
MIRT1080796	hsa-miR-3972	CLIP-seq
MIRT1080797	hsa-miR-4252	CLIP-seq
MIRT1080798	hsa-miR-4279	CLIP-seq
MIRT1080799	hsa-miR-429	CLIP-seq
MIRT1080800	hsa-miR-4328	CLIP-seq
MIRT1080801	hsa-miR-4436a	CLIP-seq
MIRT1080802	hsa-miR-4514	CLIP-seq
MIRT1080803	hsa-miR-4645-5p	CLIP-seq
MIRT1080804	hsa-miR-4646-5p	CLIP-seq
MIRT1080805	hsa-miR-4669	CLIP-seq
MIRT1080806	hsa-miR-4673	CLIP-seq
MIRT1080807	hsa-miR-4690-3p	CLIP-seq
MIRT1080808	hsa-miR-4691-5p	CLIP-seq
MIRT1080809	hsa-miR-4692	CLIP-seq
MIRT1080810	hsa-miR-4733-5p	CLIP-seq
MIRT1080811	hsa-miR-4747-5p	CLIP-seq
MIRT1080812	hsa-miR-4755-3p	CLIP-seq
MIRT1080813	hsa-miR-4764-5p	CLIP-seq
MIRT1080814	hsa-miR-486-5p	CLIP-seq
MIRT1080815	hsa-miR-520d-5p	CLIP-seq
MIRT1080816	hsa-miR-524-5p	CLIP-seq
MIRT1080779	hsa-miR-576-3p	CLIP-seq
MIRT1080817	hsa-miR-586	CLIP-seq
MIRT1080818	hsa-miR-602	CLIP-seq
MIRT1080819	hsa-miR-940	CLIP-seq
MIRT2020018	hsa-miR-4446-5p	CLIP-seq
MIRT2020019	hsa-miR-4755-5p	CLIP-seq
MIRT2020020	hsa-miR-642a	CLIP-seq
MIRT2251872	hsa-miR-1	CLIP-seq
MIRT1080752	hsa-miR-1286	CLIP-seq
MIRT2251873	hsa-miR-206	CLIP-seq
MIRT2251874	hsa-miR-3125	CLIP-seq
MIRT2251875	hsa-miR-3916	CLIP-seq
MIRT1080797	hsa-miR-4252	CLIP-seq
MIRT1080801	hsa-miR-4436a	CLIP-seq
MIRT1080802	hsa-miR-4514	CLIP-seq
MIRT1080803	hsa-miR-4645-5p	CLIP-seq
MIRT1080804	hsa-miR-4646-5p	CLIP-seq
MIRT1080806	hsa-miR-4673	CLIP-seq
MIRT2251876	hsa-miR-4691-3p	CLIP-seq
MIRT1080809	hsa-miR-4692	CLIP-seq
MIRT2251877	hsa-miR-4712-3p	CLIP-seq
MIRT1080811	hsa-miR-4747-5p	CLIP-seq
MIRT2251878	hsa-miR-532-5p	CLIP-seq
MIRT2251879	hsa-miR-613	CLIP-seq
MIRT1080819	hsa-miR-940	CLIP-seq
MIRT2430221	hsa-miR-101	CLIP-seq
MIRT2430222	hsa-miR-153	CLIP-seq
MIRT2430223	hsa-miR-4773	CLIP-seq
MIRT2430224	hsa-miR-4802-3p	CLIP-seq
MIRT2430221	hsa-miR-101	CLIP-seq
MIRT2430222	hsa-miR-153	CLIP-seq
MIRT2430223	hsa-miR-4773	CLIP-seq
MIRT2430224	hsa-miR-4802-3p	CLIP-seq
MIRT1080808	hsa-miR-4691-5p	CLIP-seq
MIRT2430221	hsa-miR-101	CLIP-seq
MIRT2430222	hsa-miR-153	CLIP-seq
MIRT2430223	hsa-miR-4773	CLIP-seq
MIRT2430224	hsa-miR-4802-3p	CLIP-seq

Show/Hide all(49)

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

MIM	HGNC	e!Ensembl
176261	6240	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) (MinK)

Protein 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 gatin

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

Interactions

View interactions

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