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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KCNE1 Gene

protein-coding GIFtS: 67
GCID: GC21M035818

potassium voltage-gated channel, Isk-related family, member...

Explore 21 diseases affiliated with
KCNE1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, and/or ¹¹Nature:405,311-319 and CroW21)
About This Section

Aliases
Potassium Voltage-Gated Channel, Isk-Related Family, Member 1¹ ²		MinK²
JLNS2¹ ² ⁵		Human Cardiac Delayed Rectifier Potassium Channel Protein11
LQT5¹ ² ⁵		LQT2/5²
ISK¹ ²		MinK²
Delayed Rectifier Potassium Channel Subunit IsK² ³		Cardiac Delayed Rectifier Potassium Channel Protein²
Minimal Potassium Channel² ³		Potassium Voltage-Gated Channel Subfamily E Member 1²
IKs Producing Slow Voltage-Gated Potassium Channel Subunit Beta Mink² ³		Potassium Voltage-Gated Channel, Isk-Related Subfamily, Member 1²
JLNS² ⁵		Voltage Gated Potassiun Channel Accessory Subunit²

External Ids:	HGNC: 6240¹	Entrez Gene: 3753²	Ensembl: ENSG00000180509⁷	OMIM: 176261⁵	UniProtKB: P15382³

Export aliases for KCNE1 gene to outside databases

Previous GC identifers: GC21M032398 GC21M034739 GC21M034741 GC21M034743 GC21M021297

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

Entrez Gene 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, Jul 2008)

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)

summary for KCNE1:

Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the

Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits

contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed

within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNE1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

RefSeq DNA sequence:

NC_000021.8 NC_018932.1 NT_011512.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KCNE1 gene promoter:
LHX3b/Lhx3b SRY AML1a Sp1 p300 Egr-1 LHX3a/Lhx3a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KCNE1 promoter sequence

Search SABiosciences Chromatin IP Primers for KCNE1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNE1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 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)
KCNE1 gene location

GeneLoc information about chromosome 21 GeneLoc Exon Structure

(about GC identifiers)

GC21M035818:	GeneLoc	Nature:405,311-319
Start:	35,818,988 bp from pter	21,398,192 bp from centromere
End:	35,884,573 bp from pter	21,398,599 bp from centromere
Size:	65,586 bases	408 bases
Orientation:	minus strand	minus strand

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

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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;

1 PDB 3D structure from and Proteopedia for KCNE1:

2K21 (3D)

Secondary accessions: A5H1P2 Q8N709 Q91Z94

Explore the universe of human proteins at neXtProt for KCNE1: NX_P15382

Post-translational modifications:

Phosphorylation inhibits the potassium current (By similarity)¹

N-glycosylation at Asn-26 occurs post-translationally, and requires prior cotranslational glycosylation at Asn-5¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P15382

KCNE1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (8 alternative transcripts):

NP_000210.2 NP_001121140.1 NP_001121141.1 NP_001121142.1 NP_001257331.1 NP_001257332.1 NP_001257333.1 NP_001257334.1

ENSEMBL proteins:

ENSP00000382228 ENSP00000382226 ENSP00000416258 ENSP00000382225 ENSP00000337255

ENSP00000412498

Human Recombinant Protein Products:

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	Novus Biologicals KCNE1 Proteins Novus Biologicals KCNE1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for KCNE1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

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	IDA	17289006
GO:0016324	apical plasma membrane	IEA	--
GO:0030018	Z disc	ISS	11697903

KCNE1 for ontologies About GeneDecksing

KCNE1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of KCNE1
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	Cell Signaling Technology (CST) Antibodies for KCNE1
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	GenScript Custom Superior Antibodies Services for KCNE1
	Novus Biologicals KCNE1 Antibodies
	Search for Antibodies for KCNE1 at Abcam
	Uscn Antibodies for KCNE1
	ThermoFisher Antibodies for KCNE1

Assay Products for KCNE1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for KCNE1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for KCNE1

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

KCNE1 for domains About GeneDecksing

2 InterPro domains/families:

IPR000369 K_chnl_volt-dep_bsu_KCNE

IPR005424 K_chnl_volt-dep_bsu_KCNE1

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 ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

miRNA Products:		miRTarBase miRNAs that target KCNE1: hsa-mir-1 (MIRT002924)

		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KCNE1
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate KCNE1:
		hsa-miR-676 hsa-miR-550a hsa-miR-193a-3p hsa-miR-2276 hsa-miR-636 hsa-miR-193b
		SwitchGear 3'UTR luciferase reporter plasmid: KCNE1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KCNE1 (see all 7) OriGene shRNA RFP: KCNE1 OriGene siRNA: KCNE1
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for KCNE1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 4): KCNE1 (NM_000219)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for KCNE1
		Search LifeMap BioReagents cell lines for KCNE1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNE1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005249	contributes to voltage-gated potassium channel activity	IDA	17289006
GO:0005251	contributes to delayed rectifier potassium channel activity	IDA	8900283
GO:0015459	potassium channel regulator activity	IDA	8900283
GO:0031433	telethonin binding	IPI	11697903

KCNE1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for KCNE1:

Increased cell number in G2M,

Animal Models:
Mouse knock-out Kcne1^tm1Sfh for KCNE1
7 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Kcne1):

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

KCNE1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Neuroscience

Neuroscience

1.00

Antiarrhythmic Pathway, Pharmacodynamics

Antiarrhythmic Pathway, Pharmacodynamics

1.00

Dopamine-DARPP32 Feedback onto cAMP Pathway

Dopamine-DARPP32 Feedback onto cAMP Pathway

1.00

Potassium transporters: inward current

Potassium transporters: inward current

1.00

Potassium Channels

Potassium transporters: outward current

0.42

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for KCNE1

	Potassium transporters- inward current
	Potassium transporters- outward current

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNE1

Dopamine-DARPP32 Feedback onto cAMP Pathway

1 Cell Signaling Technology (CST) Pathway for KCNE1

Neuroscience

1 PharmGKB Pathway for KCNE1

Antiarrhythmic Pathway, Pharmacodynamics

KCNE1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KCNE1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/6 Interacting proteins for KCNE1 (P15382^{2, 3} ENSP00000337255⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KCNQ1	P51787²^,³, ENSP00000155840⁴	MINT-7297878 MINT-7297906 MINT-7297829 MINT-7297854 MINT-7297812 I2D: score=3 STRING: ENSP00000155840
KCNH2	Q12809³, ENSP00000262186⁴	I2D: score=2 STRING: ENSP00000262186
CALM1	P62158², ENSP00000349467⁴	MINT-7297878 STRING: ENSP00000349467
PRKCA	P17252³, ENSP00000284384⁴	I2D: score=1 STRING: ENSP00000284384
CALM2	P62158²	MINT-7297878

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002070	epithelial cell maturation	IEA	--
GO:0006487	protein N-linked glycosylation	IDA	--
GO:0006493	protein O-linked glycosylation	IDA	--
GO:0006936	muscle contraction	TAS	9020846
GO:0007605	sensory perception of sound	TAS	9020846

KCNE1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

KCNE1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for KCNE1 available from Tocris Bioscience About this table

Compound	Action	CAS #
AM 92016 hydrochloride	KV channel blocker	[178894-81-0]
KN-93	CaM kinase II inhibitor. Also K+ channel blocker (KV)	[139298-40-1]
4-Aminopyridine	Non-selective KV channel blocker	[504-24-5]

1 HMDB Compound for KCNE1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Potassium	K+ (see all 16)	7440-09-7	--

1 DrugBank Compound for KCNE1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Indapamide	Indapamida [INN-Spanish] (see all 2)	26807-65-8	target	inhibitor	11804849

10 Novoseek chemical compound relationships for KCNE1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
potassium	75.9	62	9609707 (3), 9234960 (2), 10613047 (2), 9556090 (1) (see all 39)
chromanol	69.6	4	9396783 (2), 15947250 (1)
chromanol 293b	68.9	1	16909339 (1)
sodium	41.7	18	10613047 (2), 11259355 (1), 9654228 (1), 10898405 (1) (see all 11)
nitric oxide	0	1	18056530 (1)
phospholipid	0	2	8973194 (1), 8204631 (1)
lipid	0	3	8204631 (2)
arginine	0	2	14499862 (1)
adenylate	0	1	17276182 (1)
serine	0	2	19860128 (1)

Search CenterWatch for drugs/clinical trials and news about KCNE1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KCNE1 gene (8 alternative transcripts):

NM_000219.4 NM_001127668.2 NM_001127669.2 NM_001127670.2 NM_001270402.1 NM_001270403.1 NM_001270404.1 NM_001270405.1

Unigene Cluster for KCNE1:

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

Hs.121495 [show with all ESTs]

Unigene Representative Sequence: NM_000219

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000399289(uc010gmp.3 uc002ytz.3) ENST00000399286 ENST00000416357

ENST00000399284 ENST00000489175 ENST00000337385(uc010gmr.3 uc010gms.3 uc002yua.3)

ENST00000432085(uc010gmq.3)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KCNE1
		6 QIAGEN miScript miRNA Assays for microRNAs that regulate KCNE1:
		hsa-miR-676 hsa-miR-550a hsa-miR-193a-3p hsa-miR-2276 hsa-miR-636 hsa-miR-193b
		SwitchGear 3'UTR luciferase reporter plasmid: KCNE1 3' UTR sequence

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Additional cDNA sequence:

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

BC069055.1 CR541756.1 EF514882.1 EF514883.1 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):

BM675496 AK095442 BQ924286 BC069055 BQ894021 AF135188 NM_000219 BX098634

CD370857 BC046224 CR541756 BM976359 BC036452 BM931425 AI273371 L28168

BF593445 CB321701 BI459541 AW772636 CD695374 AI720140 AI915357 CD709208

GeneLoc Exon Structure

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

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

ECgene alternative splicing isoforms for KCNE1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KCNE1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACTGTTCTA

About this image
See KCNE1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCNE1

SOURCE GeneReport for Unigene cluster: Hs.121495

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

SABiosciences Custom PCR Arrays for KCNE1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KCNE1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNE1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for KCNE1 gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Kcne1^{1 , 5}	potassium voltage-gated channel, Isk-related subfamily, more^{1, 5}	81.89(n)¹ 77.17(a)¹		16 (53.57 cM)⁵ 16509¹ NM_008424.3¹ NP_032450.1¹ 92346001⁵
chicken (Gallus gallus)	Aves	KCNE1¹	potassium voltage-gated channel, Isk-related family, more	65.07(n) 47.2(a)		427980 XM_425550.2 XP_425550.2
lizard (Anolis carolinensis)	Reptilia	KCNE1⁶	--	47(a)	1 ↔ 1	3(142460692-142461075)
zebrafish (Danio rerio)	Actinopterygii	AL807829.1⁶	--	29(a)	1 ↔ 1	9(36920658-36921309)

ENSEMBL Gene Tree for KCNE1 (if available)
TreeFam Gene Tree for KCNE1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 21 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74315445^1,2	C	pathogenic	21300579(-)	`CGAACA/GACCCA`	16	N D	mis¹		0	--	--	--	--
rs74315446^1,2	C,	pathogenic	21300584(-)	`GCACTC/TGAACG`	16	S L	mis¹		0	--	--	--	--
rs28933384^1,2	C	pathogenic	21300785(-)	`CACCAC/TAGCGG`	16	T I	mis¹ ese³		2		NA	4
rs187686559^1,2	C,	probable-non-pathogenic	21300775(+)	`AAGGGA/C/TGTCAC`	24	T	syn¹		0	--	--	--	--
rs142511345^1,2	C	untested	21300431(+)	`GCTTCG/ATCTCA`	16	/T /M	mis¹		1		NA	4504
rs77442996^1,2	C	untested	21300480(+)	`TTCAAC/TGACAT`	16	I V	mis¹		1		--	752
rs199473362^1,2	C	untested	21300513(-)	`AGGCCC/TGGGTC`	16	R W	mis¹		1		EU	1323
rs199473359^1,2	C	untested	21300563(-)	`CGTCTA/G/TCATCG`	24	Y C F	mis¹		0	--	--	--	--
rs149338401^1,2	C	untested	21300599(+)	`GCTTCT/CTGGAG`	16	/K /R	mis¹		1		NA	4552
rs79654911^1,2	C	untested	21300605(+)	`TGGAGC/TGGATG`	16	H R	mis¹		1		--	752

HapMap Linkage Disequilibrium report for KCNE1 (35818988 - 35884573 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for KCNE1
1 CNV: 34534
Human Gene Mutation Database (HGMD): KCNE1

Locus Specific Mutation Databases (LSDB): KCNE1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KCNE1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

KCNE1 for disorders           About GeneDecksing

OMIM gene information: 176261
OMIM disorders: 612347  613695
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:613695]. 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

20/21 diseases for KCNE1 (see all 21): About MalaCards

long qt syndrome jervell-lange nielsen syndrome jervell and lange-nielsen syndrome 2 long qt syndrome 5

sudden infant death syndrome atrial fibrillation heart block congenital heart block

familial atrial fibrillation hearing loss brugada syndrome meniere's disease

menieres disease gastroparesis myocardial infarction syncope

down syndrome aldosteronism adenoma schizophrenia

5 diseases from the University of Copenhagen DISEASES database for KCNE1:

Long QT syndrome Familial atrial fibrillation Brugada syndrome Sensorineural hearing loss

Timothy syndrome

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

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
romano-ward syndrome	94.8	14	11216980 (1), 16929947 (1), 10898405 (1), 12388934 (1) (see all 13)
long qt syndrome	94.5	35	11289718 (1), 14760488 (1), 16987820 (1), 9852064 (1) (see all 26)
death sudden	79.3	9	11289718 (1), 10704188 (1), 8899564 (1), 14642002 (1) (see all 8)
torsades de pointes	76.7	1	14510661 (1)
congenital deafness	75.9	4	10704188 (1), 16929947 (1), 8899564 (1), 9341873 (1)
arrhythmia	72	19	18426444 (1), 10704188 (1), 16132053 (1), 18803136 (1) (see all 12)
ventricular tachyarrhythmia	63.8	2	19660109 (1), 15924777 (1)
death sudden cardiac	62.7	2	16132053 (1), 19660109 (1)
ventricular arrhythmia	58.8	4	18803136 (1), 16556865 (1), 11692163 (1), 14510661 (1)
bilateral deafness	57.4	1	11226272 (1)

GeneTests: KCNE1

Jervell and Lange-Nielsen Syndrome

Romano-Ward Syndrome

Genetic Association Database (GAD): KCNE1
Human Genome Epidemiology (HuGE) Navigator: KCNE1 (56 documents)

Export disorders for KCNE1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for KCNE1 gene, integrated from 9 sources (see all 284):
(articles sorted by number of sources associating them with KCNE1)

Utopia: connect your pdf to the dynamic
world of online information

A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype. (PubMed id 11692163)^{1, 2, 4, 9} Schulze-Bahr E.... Breithardt G. (2001)
Compound mutations: a common cause of severe long-QT syndrome. (PubMed id 15051636)^{1, 2, 4} Westenskow P....Sanguinetti M.C. (2004)
Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange- Nielsen syndrome. (PubMed id 8899564)^{1, 2, 9} 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, 2, 9} Tyson J.... Bitner-Glindzicz M. (1997)
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PubMed id 10973849)^{1, 2, 9} 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, 2, 9} 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, 4, 9} 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, 4, 9} 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, 2, 9} Abbott G.W. and Goldstein S.A.N. (2002)
Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. (PubMed id 16132053)^{1, 4, 9} Gouas L....Guicheney P. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, 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)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for KCNE1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNE1

Intellectual Property for KCNE1 gene
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Patent Information for KCNE1 gene:
Search GeneIP for patents involving KCNE1

GeneCards and IP:
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KCNE1 Gene

potassium voltage-gated channel, Isk-related family, member...

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