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KCNE1 Gene

protein-coding GIFtS: 71

GC21M034743

potassium voltage-gated channel, Isk-related family, member 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase, and/or ⁹Nature:405,311-319 and CroW21)
About This Section

Aliases
FLJ18426 ^²
FLJ38123 ^²
FLJ94103 ^²
ISK ^¹, ²
JLNS ^², ⁵
JLNS2 ^¹, ², ⁵
LQT2/5 ^²
LQT5 ^², ⁵
MGC33114 ^²
MinK ^²
OTTHUMP00000108623 ^²
OTTHUMP00000108625 ^²
OTTHUMP00000108626 ^²
minK ^¹

Descriptions
Delayed rectifier potassium channel subunit IsK ^², ³
IKs producing slow voltage-gated potassium channel subunit beta Mink ^², ³
Minimal potassium channel ^², ³
cardiac delayed rectifier potassium channel protein ^²
human cardiac delayed rectifier potassium channel protein ⁹
potassium voltage-gated channel subfamily E member 1 ^²
potassium voltage-gated channel, Isk-related family, member 1 ^²
potassium voltage-gated channel, Isk-related subfamily, member 1 ^²
voltage gated potassiun channel accessory subunit ^²

External Ids
HGNC: 6240¹
Entrez Gene: 3753²
UniProtKB: P15382³
Ensembl: ENSG00000180509⁷

Search outside databases for aliases for KCNE1 gene

Previous GC identifers: GC21M032398 GC21M034739 GC21M034741

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for KCNE1:

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]

UniProtKB/Swiss-Prot: KCNE1_HUMAN, P15382

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 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)

Gene Wiki entry for KCNE1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.1-q22.2|21q22.12 Ensembl cytogenetic band: 21q22.12 HGNC cytogenetic band: 21q22.1-q22.2
Nature(405: 311-319) cytogenetic band: 21q22.12

KCNE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 21 GeneLoc Exon Structure

(about GC identifiers)

GC21M034743:	GeneLoc	Nature:405,311-319
Start:	34,740,858 bp from pter	21,398,192 bp from centromere
End:	34,806,443 bp from pter	21,398,599 bp from centromere
Size:	65,586 bases	408 bases
Orientation:	minus strand	minus strand

RefSeq DNA sequence:

NC_000021.7 NT_011512.10

Whole chromosome sequencing:
cDNA sequence:	L28168
genomic clones:	PPQ336B18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: KCNE1_HUMAN, P15382 (See protein sequence)

Recommended Name: Potassium voltage-gated channel subfamily E member 1

Size: 129 amino acids; 14675 Da

Subunit: Associates with KCNQ1/KVLQT1 and KCNH2/HERG

Subcellular location: Membrane; Single-pass type I membrane protein

Sequence caution: Sequence=AAH36452.1; Type=Erroneous termination; Positions=106; Note=Translated

as Cys;

PDB structures from and Proteopedia :

2K21 (3D)

Secondary accessions: A5H1P2 Q8N709 Q91Z94

Post-translational modifications:

Phosphorylation inhibits the potassium current (By similarity)¹

REFSEQ proteins (4 alternative transcripts):

NP_000210.2 NP_001121140.1 NP_001121141.1 NP_001121142.1

ENSEMBL proteins:

ENSP00000337255 ENSP00000382228 ENSP00000382225 ENSP00000382226

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (KCNE1)
	Human Recombinant Proteins from Abnova (KCNE1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005764	lysosome	IDA	16780588
GO:0005886	plasma membrane	IDA	16780588
GO:0008076	voltage-gated potassium channel complex	TAS	8900283
GO:0016021	integral to membrane	IEA	--
GO:0016324	apical plasma membrane	IEA	--

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Antibodies for KCNE1:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of KCNE1
	Sigma-Aldrich Antibodies for KCNE1
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for KCNE1
	Antibodies from Abcam (KCNE1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (KCNE1)
	Novus Biologicals Antibodies for KCNE1

Assays for KCNE1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P15382

ProtoNet protein and cluster: P15382

2 Blocks protein families:

IPB000369 KCNE voltage-gated K+ channel beta subunit family signature

IPB005424 KCNE voltage-gated K+ channel beta-1 subunit signature

UniProtKB/Swiss-Prot: KCNE1_HUMAN, P15382

Similarity: Belongs to the potassium channel KCNE family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (KCNE1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (KCNE1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_000219

Applied Biosystems Silencer® siRNAs for KCNE1

Sigma-Aldrich siRNA and siRNA Panels for KCNE1

Sigma-Aldrich shRNA Panels and shRNA for KCNE1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for KCNE1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_000219
Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_000219
untagged cDNA clones in CMV expression vector (see all 5): BC036452

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001127668

UniProtKB/Swiss-Prot: KCNE1_HUMAN, P15382

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 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)

Genatlas biochemistry entry for KCNE1:

potassium voltage-gated channel,Isk-related subfamily,member 1,widely expressed,associating with

KCNQ1 to generate the slow delayed IKS channel,also associating with KCNH2 (HERG) to modulate the

rapid delayed rectifier IKJ channel,central to the control of the heart rate and rhythm

7 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Kcne1):

	behavior/neurological	digestive/alimentary	hearing/vestibular/ear	hematopoietic system
homeostasis/metabolism	nervous system

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005244	voltage-gated ion channel activity	IEA	--
GO:0005251	delayed rectifier potassium channel activity	TAS	9354802
GO:0015459	potassium channel regulator activity	TAS	9230439
GO:0030955	potassium ion binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Gene Network Central^TM Interacting Genes and Proteins Network for KCNE1

5/55 Interacting proteins for KCNE1 (ENSP00000337255³) via UniProtKB, MINT, and/or STRING (see all 55 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KCNH2	ENSP00000262186³	STRING (score=.999)
KCNQ1	ENSP00000370153³	STRING (score=.999)
KCNQ2	ENSP00000359244³	STRING (score=.989)
KCNE1L	ENSP00000361173³	STRING (score=.987)
KCNA5	ENSP00000252321³	STRING (score=.978)

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5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002070	epithelial cell maturation	IEA	--
GO:0006811	ion transport	IEA	--
GO:0006813	potassium ion transport	TAS	8900283
GO:0006936	muscle contraction	TAS	9020846
GO:0007605	sensory perception of sound	TAS	9020846

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for KCNE1

Browse Small Molecules at Sigma-Aldrich

Compounds for KCNE1 available from Tocris Bioscience

Compound	Action	CAS number
AM 92016 hydrochloride	KV channel blocker	[178894-81-0]
KN-93	CaM kinase II inhibitor. Also K+ channel blocker (KV)	[139298-40-1]
SG 209	K+ channel opener	[83440-03-3]
4-Aminopyridine	K+ channel blocker	[504-24-5]

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5 Novoseek chemical compound relationships for KCNE1 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
potassium	75.62	58	9609707 (3), 9234960 (2), 10613047 (2), 9556090 (1) (see all 36)
sodium	42.01	18	10613047 (2), 11259355 (1), 9654228 (1), 10898405 (1) (see all 11)
nitric oxide	0.00	1	18056530 (1)
phospholipid	0.00	2	8973194 (1), 8204631 (1)
lipid	0.00	3	8204631 (2)

About this table

1 PharmGKB drug compound relationship for KCNE1 gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
antiarrhythmics	FA	8900282 8900283 11799244

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (KCNE1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (KCNE1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 5): NM_000219

Sigma-Aldrich siRNA and siRNA Panels for KCNE1

Sigma-Aldrich shRNA Panels and shRNA for KCNE1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000219 NM_001127668 NM_001127669 NM_001127670

REFSEQ mRNAs for KCNE1 gene (4 alternative transcripts):

NM_000219.3 NM_001127668.1 NM_001127669.1 NM_001127670.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000219 NM_001127668 NM_001127669 NM_001127670

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_000219
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_000219
                                 untagged cDNA clones in CMV expression vector (see all 5): BC036452

Additional cDNA sequence:

AF135188.1 AK304336.1 AK311384.1 AK313543.1 AY789479.1 AY789480.1 BC036452.1 BC046224.1

BC069055.1 CR541756.1 EU008568.1 EU008569.1 EU008570.1 L28168.1

10 DOTS entries:

DT.40213813 DT.306348 DT.121138332 DT.121138341 DT.100000080 DT.121138325 DT.121138338 DT.121138343

DT.121138345 DT.100000079

24/29 AceView cDNA sequences (see all 29 ):

BQ894021 AK095442 AF135188 BC069055 BM675496 BQ924286 BC036452 CB321701

BF593445 L28168 BM976359 CR541756 BC046224 CD370857 BM931425 AI273371

BX098634 NM_000219 CD695374 AI720140 AW772636 BI459541 CD709208 AI915357

highest scoring ESTs for KCNE1:

BC046224 BQ924286 L28168 AK095442 BC036452 BI459541 BM976359 BX098634 CB321701 CD370857

Unigene Cluster for KCNE1:

Potassium voltage-gated channel, Isk-related family, member 1

Hs.121495 [show with all ESTs]

Unigene Representative Sequence: NM_001127670

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for KCNE1 (see all 7 )

ExUns:	1a	·	1b	^	2a	·	2b	·	2c	·	2d	^	3	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	·	6c	·	6d	·	6e	·	6f
SP1:					-						-		-		-		-
SP2:											-		-		-		-		-
SP3:															-		-
SP4:
SP5:																			-

About this scheme

ECgene alternative splicing isoforms for KCNE1

4 Ensembl transcripts including schematic representations:

ENST00000337385 ENST00000399289 ENST00000399284 ENST00000399286

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

KCNE1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for KCNE1

¹ / ² / ³

6 probe-sets matching KCNE1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
32496_at²^{, 3}	U95-A	1	1.00	1.00	0.79	0.70	L28168	0.80	1.00	0.91	1
80771_at²^{, 3}	U95-D	1	1.00	1.00	0.94	1.30	R73518	0.60	1.00	0.82	1
208514_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000219	0.60	1.00	0.82	1
236407_at²^{, 3}	U133-B	1	1.00	1.00	--	--	R73518	0.60	1.00	0.82	1
208514_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
236407_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks KCNE1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TACTGTTCTA

SOURCE GeneReport for Unigene cluster: Hs.121495
Expression variation in blood from EXPOLDB for KCNE1
UniProtKB/Swiss-Prot: KCNE1_HUMAN, P15382
Tissue specificity: Expressed 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

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for KCNE1 gene from 5/6 species (see all 6 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	KCNE1¹	--	potassium voltage-gated channel, Isk-related family, more	84.78(n) 81.1(a)	487743 XM_544868.2 XP_544868.2
chimpanzee (Pan troglodytes)	KCNE1¹	--	potassium voltage-gated channel, Isk-related family, more	97.42(n) 96.9(a)	474097 XM_001167449.1 XP_001167449.1
cow (Bos taurus)	KCNE1¹	--	potassium voltage-gated channel, Isk-related family, more	80.99(n) 78.12(a)	528014 XM_001251534.1 XP_001251535.1
rat (Rattus norvegicus)	Kcne1¹	--	potassium voltage-gated channel, Isk-related subfamily, more	81.63(n) 77.95(a)	25471 NM_012973.1 NP_037105.1
mouse (Mus musculus)	Kcne1^{1, 5}	16 (64.40 cM)⁵	potassium voltage-gated channel, Isk-related subfamily, more^{1, 5}	81.89(n)¹ 77.17(a)¹	16509¹ NM_008424.3¹ NP_032450.1¹ AK008938⁵ AK028907⁵ (see all 7)

About this table Species with no ortholog for KCNE1

ENSEMBL Gene Tree for KCNE1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/498 NCBI SNPs in KCNE1 are shown (see all 498 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 152)

AB	SNP ID	Valid	Chr 21 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2834485^1,2	A,C,F,H,O	34740884(+)	`TTTTAA/GCGAAA`	4	--	ut3¹		18	NA NS EA EU WA	1169
	rs1805127^1,2	A,C,F,H	34743691(-)	`CAGCGA/GGTGAC`	4	/	mis¹		10	MN EU EA WA NA	850
	rs2070356^1,2	A,C,F,H	34742957(+)	`GCCCCG/ATTCTT`	4	--	ut3¹		13	EA EU WA NS	2466
	rs2070357^1,2	A,C,F,H	34743289(+)	`ACCCCT/CCACCC`	4	--	ut3¹ ese³		8	EU EA WA NS	788
	rs11702354^1,2	A,C,F,H	34806395(+)	`GAGAGG/AAAGGC`	1	--	ut5¹ ese³ trp³		16	EU EA WA NA NS	1576
	rs3453^1,2	A,C,F,H	34740933(+)	`ATGCAC/TAGAGT`	4	--	ut3¹		14	NA MN EA EU WA	1243
	rs2834502^1,2	C,F,H,O	34805359(+)	`AACTTC/TTCAGA`	1	--	ut5¹ ese³		17	NA EA EU WA NS	1443
	rs11909074^1,2	C,F,H	34742194(+)	`TGGTGC/TCCTCC`	4	--	ut3¹ ese³		8	EU EA WA NS	782
	rs4817670^1,2	C,F,H	34806282(+)	`CTCAGC/TCTTTA`	1	--	ut5¹ ese³		9	NA EU EA WA NS	744
	rs1805128^1,2	C,F,H	34743550(-)	`AGTCCG/AATGCC`	4	N/D	mis¹ ese³		11	EU EA WA NS	1780

About this table

HapMap Linkage Disequilibrium images for KCNE1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 176261

UniProtKB/Swiss-Prot: KCNE1_HUMAN, P15382

Defects in KCNE1 are the cause of Jervell and Lange-Nielsen syndrome type 2 (JLNS2)

[MIM:612347]. JLNS2 is 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

Defects in KCNE1 are the cause of long QT syndrome type 5 (LQT5) [MIM:176261]. Long QT

syndromes are heart disorders 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. KCNE1 mutants form channels that open slowly and close rapidly, thereby diminishing

potassium currents

10/18 Novoseek disease relationships for KCNE1 gene (see all 18 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
romano-ward syndrome	95.01	14	11216980 (1), 16929947 (1), 10898405 (1), 12388934 (1) (see all 13)
long qt syndrome	94.57	33	11289718 (1), 14760488 (1), 16987820 (1), 9852064 (1) (see all 25)
death sudden	80.04	9	11289718 (1), 10704188 (1), 8899564 (1), 14642002 (1) (see all 8)
torsades de pointes	77.05	1	14510661 (1)
congenital deafness	76.94	4	10704188 (1), 16929947 (1), 8899564 (1), 9341873 (1)
arrhythmia	72.72	19	18426444 (1), 10704188 (1), 16132053 (1), 18803136 (1) (see all 12)
death sudden cardiac	63.19	1	16132053 (1)
ventricular tachyarrhythmia	62.91	1	15924777 (1)
ventricular arrhythmia	60.37	4	18803136 (1), 16556865 (1), 11692163 (1), 14510661 (1)
bilateral deafness	59.26	1	11226272 (1)

About this table

1 PharmGKB disease relationship for KCNE1 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Long QT Syndrome	FA	8900282 8900283 11799244

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GeneTests: KCNE1

Romano-Ward Syndrome

Human Gene Mutation Database: KCNE1
Genetic Association Database: KCNE1
Human Genome Epidemiology Navigator: KCNE1 (34 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/226 PubMed articles for KCNE1 gene (see all 226 ):

A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype. (PubMed id 11692163)^{1, 3, 4, 6} Schulze-Bahr E.... Breithardt G. (2001)
Compound mutations: a common cause of severe long-QT syndrome. (PubMed id 15051636)^{3, 4, 6} Westenskow P....Sanguinetti M.C. (2004)
Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. (PubMed id 8900283)^{1, 3, 7} Sanguinetti M.C.... Keating M.T. (1996)
Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange- Nielsen syndrome. (PubMed id 8899564)^{1, 3, 4} Tesson F.... Guicheney P. (1996)
IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. (PubMed id 9328483)^{1, 3, 4} Tyson J.... Bitner-Glindzicz M. (1997)
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PubMed id 10973849)^{1, 3, 4} Splawski I....Keating M.T. (2000)
Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. (PubMed id 10400998)^{1, 3, 4} Bianchi L.... Brown A.M. (1999)
Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study. (PubMed id 15746444)^{1, 3, 6} Pfeufer A....Kaab S. (2005)
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. (PubMed id 14760488)^{1, 3, 6} Paulussen A.D....Aerssens J. (2004)
Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. (PubMed id 11874988)^{1, 3, 4} Abbott G.W. and Goldstein S.A.N. (2002)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 3753	HGNC: 6240	AceView: KCNE1	Ensembl:ENSG00000180509	euGenes: HUgn3753
ECgene: KCNE1	H-InvDB: KCNE1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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Name	Description
LQTSdb	http://www.ssi.dk/graphics/html/lqtsdb/kcne1.htm
GeneDis	http://www.tau.ac.il/lifesci/bioinfo/genedis/heart/long_qt.html
GeneReviews	http://www.genetests.org/query?gene=KCNE1

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
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Products for KCNE1:

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KCNE1 Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for KCNE1

Summaries
for KCNE1

Genomic Location
for KCNE1

Proteins
for KCNE1

Protein Domains/
Families
for KCNE1

Gene Function
for KCNE1

Pathways & Interactions
for KCNE1

Drugs & Compounds
for KCNE1

Transcripts
for KCNE1

Expression
for KCNE1

Orthologs
for KCNE1

Paralogs
for KCNE1

SNPs/Variants
for KCNE1

Disorders & Mutations
for KCNE1

Medical News
for KCNE1

Publications
for KCNE1

Search for KCNE1

Genome Databases showing KCNE1

Other Databases showing KCNE1

Specialized Databases showing KCNE1

Licensable Technologies
for KCNE1

Services
for KCNE1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

KCNE1 (Gene Symbol)
FLJ18426
FLJ38123
FLJ94103
ISK
JLNS
JLNS2
LQT2/5
LQT5
MGC33114
MinK
OTTHUMP00000108623
OTTHUMP00000108625
OTTHUMP00000108626
minK
Delayed rectifier potassium channel subunit IsK
IKs producing slow voltage-gated potassium channel subunit beta Mink
Minimal potassium channel
cardiac delayed rectifier potassium channel protein
human cardiac delayed rectifier potassium channel protein
potassium voltage-gated channel subfamily E member 1
potassium voltage-gated channel, Isk-related family, member 1
potassium voltage-gated channel, Isk-related subfamily, member 1
voltage gated potassiun channel accessory subunit

KCNE1 Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor KCNE1

Summariesfor KCNE1

Genomic Locationfor KCNE1

Proteinsfor KCNE1

Protein Domains/Familiesfor KCNE1

Gene Functionfor KCNE1

Pathways & Interactionsfor KCNE1

Drugs & Compoundsfor KCNE1

Transcriptsfor KCNE1

Expression for KCNE1

Orthologsfor KCNE1

Paralogsfor KCNE1

SNPs/Variantsfor KCNE1

Disorders & Mutationsfor KCNE1

Medical Newsfor KCNE1

Publicationsfor KCNE1

Search for KCNE1

Genome Databases showing KCNE1

Other Databases showing KCNE1

Specialized Databases showing KCNE1

Licensable Technologiesfor KCNE1

Servicesfor KCNE1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for KCNE1

Summaries
for KCNE1

Genomic Location
for KCNE1

Proteins
for KCNE1

Protein Domains/
Families
for KCNE1

Gene Function
for KCNE1

Pathways & Interactions
for KCNE1

Drugs & Compounds
for KCNE1

Transcripts
for KCNE1

Expression
for KCNE1

Orthologs
for KCNE1

Paralogs
for KCNE1

SNPs/Variants
for KCNE1

Disorders & Mutations
for KCNE1

Medical News
for KCNE1

Publications
for KCNE1

Licensable Technologies
for KCNE1

Services
for KCNE1