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KCNE1L Gene

protein-coding GIFtS: 49

GC0XM108673

KCNE1-like
(Previous names: potassium voltage-gated channel, Isk-related family, member 1-like )
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)
About This Section

Aliases
KCNE1-like ^²
KCNE5 ^²
OTTHUMP00000023845 ^²

Descriptions
AMME syndrome candidate gene 2 protein ^³
AMMECR2 protein ^², ³
cardiac voltage-gated potassium channel accessory subunit 5 ^²
potassium voltage-gated channel subfamily E member 1-like protein ^²
potassium voltage-gated channel, Isk-related family, member 1-like ^¹, ²
voltage-gated potassium channel accessory subunit 5 ^²

External Ids
HGNC: 6241¹
Entrez Gene: 23630²
UniProtKB: Q9UJ90³
Ensembl: ENSG00000176076⁷

Search outside databases for aliases for KCNE1L gene

Previous GC identifers: GC0XM104169 GC0XM106013 GC0XM106892 GC0XM107630

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

EntrezGene summary for KCNE1L:

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion

channels from both functional and structural standpoints. Their diverse functions include

regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability,

epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a

membrane protein which has sequence similarity to the KCNE1 gene product, a member of the

potassium channel, voltage-gated, isk-related subfamily. This intronless gene is deleted in AMME

contiguous gene syndrome and may be involved in the cardiac and neurologic abnormalities found in

the AMME contiguous gene syndrome. [provided by RefSeq]

(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)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the KCNE1L gene

Entrez Gene cytogenetic band: Xq22.3 Ensembl cytogenetic band: Xq22.3 HGNC cytogenetic band: Xq22.3

KCNE1L 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 X GeneLoc Exon Structure

GeneLoc location for GC0XM108673: (about GC identifiers)

Start:	108,753,585 bp from pter
End:	108,755,057 bp from pter
Size:	1,473 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000023.9 NT_011651.16

(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)
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UniProtKB/Swiss-Prot: KCE1L_HUMAN, Q9UJ90 (See protein sequence)

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

Size: 142 amino acids; 14993 Da

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

REFSEQ proteins: NP_036414.1

ENSEMBL proteins:

ENSP00000361173

Human Recombinant Proteins

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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008076	voltage-gated potassium channel complex	TAS	10493825
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

About this table

Antibodies for KCNE1L:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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	Browse R&D Systems for Antibodies
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for KCNE1L

Assays for KCNE1L:

	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)
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ProtoNet protein and cluster: Q9UJ90

UniProtKB/Swiss-Prot: KCE1L_HUMAN, Q9UJ90

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.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (KCNE1L)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_012282

Applied Biosystems Silencer® siRNAs for KCNE1L

Sigma-Aldrich siRNA and siRNA Panels for KCNE1L

Sigma-Aldrich shRNA for KCNE1L

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for KCNE1L
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_012282
Myc/DDK tagged cDNA clone in CMV expression vector: NM_012282
untagged cDNA clone in CMV expression vector: NM_012282

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_012282

Genatlas biochemistry entry for KCNE1L:

neuromuscular specific protein,expressed in heart,skeletal muscle,spinal cord and brain,gene

syndrome deleted with COL4A5,in the AMME contiguous and other genes

1 MGI phenotypic allele

for Kcne1l (no phenotypes)

(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 KCNE1L

5/41 Interacting proteins for KCNE1L (ENSP00000361173³) via UniProtKB, MINT, and/or STRING (see all 41 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KCNE1	ENSP00000337255³	STRING (score=.987)
KCNQ1	ENSP00000370153³	STRING (score=.979)
KCNE2	ENSP00000290310³	STRING (score=.975)
KCNH2	ENSP00000262186³	STRING (score=.961)
KCNIP2	ENSP00000347877³	STRING (score=.958)

About this table

2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007605	sensory perception of sound	IEA	--
GO:0008016	regulation of heart contraction	TAS	10493825

About this table

(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

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for KCNE1L

(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 (KCNE1L)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_012282

Sigma-Aldrich siRNA and siRNA Panels for KCNE1L

Sigma-Aldrich shRNA for KCNE1L

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_012282

REFSEQ mRNAs for KCNE1L gene:

NM_012282.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_012282

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_012282
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_012282
                                 untagged cDNA clone in CMV expression vector: NM_012282

Additional cDNA sequence:

AF086499.1 AJ012743.1 AK223306.1 AK314923.1 BC035330.1 DQ192294.1 EF535525.1

1 DOTS entry:

DT.411073

24/28 AceView cDNA sequences (see all 28 ):

AI380172 NM_012282 AA195994 AA047536 BC035330 BX282740 AA047636 AJ012743

AA977440 BE856206 BP367195 AI051276 BF112017 BI754381 AA195817 BI752621

AF086499 W90270 AI349409 AI094604 BE048423 W94014 BE048380 AL546854

highest scoring ESTs for KCNE1L:

AI094604 AJ012743 BC035330 BI752621 BI754381 BX282740 AA047536 AA047636 AA195817 AA195994

Unigene Cluster for KCNE1L:

KCNE1-like

Hs.522753 [show with all ESTs]

Unigene Representative Sequence: AK223306

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000372101

(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

KCNE1L expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for KCNE1L

¹ / ² / ³

3 probe-sets matching KCNE1L 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
51551_at²^{, 3}	U95-B	1	1.00	1.00	1.00	1.00	AI094604	0.80	1.00	0.91	1
220010_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_012282	0.60	1.00	0.82	1
220010_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks KCNE1L 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: ATCTTCTACG

SOURCE GeneReport for Unigene cluster: Hs.522753
UniProtKB/Swiss-Prot: KCE1L_HUMAN, Q9UJ90
Tissue specificity: Highly expressed in heart, skeletal muscle, brain, spinal cord and placenta

(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 KCNE1L gene from 4 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	KCNE1L¹	--	KCNE1-like	84.21(n) 84.21(a)	610432 XM_847940.1 XP_853033.1
cow (Bos taurus)	KCNE1L¹	--	KCNE1-like	88.03(n) 89.44(a)	508071 XM_001251649.1 XP_001251650.1
rat (Rattus norvegicus)	Kcne1l¹	--	potassium voltage-gated channel, Isk-related family, more	80.28(n) 79.58(a)	681190 XM_001060695.1 XP_001060695.1
mouse (Mus musculus)	Kcne1l^{1, 5}	X⁵	potassium voltage-gated channel, Isk-related family, more^{1, 5}	82.39(n)¹ 80.99(a)¹	66240¹ NM_021487.1¹ NP_067462.1¹ AJ131398⁵ AK005246⁵ (see all 7)

About this table Species with no ortholog for KCNE1L

ENSEMBL Gene Tree for KCNE1L

(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

10/32 NCBI SNPs in KCNE1L are shown (see all 32 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 16)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs697829^1,2	A,C,F,H,O	108753833(+)	`CATACA/GGTTGG`	1	--	ut3¹ ese³		12	MN EU EA WA NA NS	1312
	rs839377^1,2	A,C,F,H	108753958(-)	`TTCCCT/ACCCTC`	1	--	ut3¹ trp³		6	MN EU EA WA NS	694
--	rs7882360^1,2	A,F,H	108756840(+)	`tcagaA/Ggagct`	1	--	ng3¹		4	EU EA WA	420
--	rs839376^1,2	A,C,F	108755110(-)	`GGGAAA/GGGGAG`	1	--	ng3¹ trp³		1	EU	20
--	rs16985810^1,2	C,F	108754128(+)	`AGAATG/TCATTG`	1	--	ut3¹ ese³		5	EU NS	686
--	rs17003955^1,2	C,F	108754809(+)	`ACGAGG/AGCCAG`	1	S/P	mis¹ ese³		5	EU NS	1096
--	rs16985808^1,2	C,F	108754030(+)	`CTGCTG/ACAGTC`	1	--	ut3¹ ese³		3	EU NS	438
--	rs41313571^1,2	F	108755928(+)	`ATCTCG/AGGATC`	1	--	ng3¹		1	NS	94
--	rs41312937^1,2	F	108755040(+)	`TCTCCG/AGCGAG`	1	--	ut5¹		1	NS	79
--	rs41313563^1,2	F	108754219(+)	`CAAGAG/AAGCAG`	1	--	ut3¹		1	NS	92

About this table

HapMap Linkage Disequilibrium images for KCNE1L (up to first 250kb)

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

OMIM: 300328

UniProtKB/Swiss-Prot: KCE1L_HUMAN, Q9UJ90

Defects in KCNE1L may be a cause of AMME complex [MIM:300194]; also known as Alport

syndrome, mental retardation, midface hypoplasia and elliptocytosis, and of additional mild

abnormalities of the heart. The AMME complex is a contiguous gene deletion syndrome

Human Gene Mutation Database: KCNE1L
Genetic Association Database: KCNE1L
Human Genome Epidemiology Navigator: KCNE1L (3 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

10/15 PubMed articles for KCNE1L gene (see all 15 ):

KCNE1-like gene is deleted in AMME contiguous gene syndrome: Identification and characterization of the human and mouse homologs. (PubMed id 10493825)^{1, 2, 3, 4} Piccini M.... Renieri A. (1999)
Relation of 97T polymorphism in KCNE5 to risk of atrial fibrillation. (PubMed id 16054468)^{3, 6} Ravn L.S....Christiansen M. (2005)
Does KCNE5 play a role in long QT syndrome? (PubMed id 15193977)^{3, 6} Hofman-Bang J....Christiansen M. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation. (PubMed id 18313602)³ Ravn L.S....Antzelevitch C. (2008)
Expression and transcriptional control of human KCNE genes. (PubMed id 16303284)³ Lundquist A.L.... George A.L. Jr (2006)
Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. (PubMed id 15368194)³ Yang Y....Chen Y. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)³ Strausberg R.L....Marra M.A. (2002)
Construction and characterization of a full length-enriched and a 5'- end-enriched cDNA library. (PubMed id 9373149)³ Suzuki Y.... Sugano S. (1997)
Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)³ Maruyama K. and Sugano S. (1994)

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

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 23630	HGNC: 6241	AceView: KCNE1L	Ensembl:ENSG00000176076	euGenes: HUgn23630
ECgene: KCNE1L	H-InvDB: KCNE1L

(According to HUGE)
About This Section

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

Licensable Technologies for KCNE1L
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for KCNE1L:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for KCNE1L-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for KCNE1L		Browse antibodies at Sigma-Aldrich
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	Lentivirus-delivered shRNAs for KCNE1L		Browse small molecules at Sigma-Aldrich
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KCNE1L Gene

protein-coding GIFtS: 49

Aliases &
Descriptions
for KCNE1L

Summaries
for KCNE1L

Genomic Location
for KCNE1L

Proteins
for KCNE1L

Protein Domains/
Families
for KCNE1L

Gene Function
for KCNE1L

Pathways & Interactions
for KCNE1L

Drugs & Compounds
for KCNE1L

Transcripts
for KCNE1L

Expression
for KCNE1L

Orthologs
for KCNE1L

Paralogs
for KCNE1L

SNPs/Variants
for KCNE1L

Disorders & Mutations
for KCNE1L

Medical News
for KCNE1L

Publications
for KCNE1L

Search for KCNE1L

Genome Databases showing KCNE1L

Other Databases showing KCNE1L

Specialized Databases showing KCNE1L

Licensable Technologies
for KCNE1L

Services
for KCNE1L

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

KCNE1L Gene

protein-coding GIFtS: 49

Aliases & Descriptionsfor KCNE1L

Summariesfor KCNE1L

Genomic Locationfor KCNE1L

Proteinsfor KCNE1L

Protein Domains/Familiesfor KCNE1L

Gene Functionfor KCNE1L

Pathways & Interactionsfor KCNE1L

Drugs & Compoundsfor KCNE1L

Transcriptsfor KCNE1L

Expression for KCNE1L

Orthologsfor KCNE1L

Paralogsfor KCNE1L

SNPs/Variantsfor KCNE1L

Disorders & Mutationsfor KCNE1L

Medical Newsfor KCNE1L

Publicationsfor KCNE1L

Search for KCNE1L

Genome Databases showing KCNE1L

Other Databases showing KCNE1L

Specialized Databases showing KCNE1L

Licensable Technologiesfor KCNE1L

Servicesfor KCNE1L

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 KCNE1L

Summaries
for KCNE1L

Genomic Location
for KCNE1L

Proteins
for KCNE1L

Protein Domains/
Families
for KCNE1L

Gene Function
for KCNE1L

Pathways & Interactions
for KCNE1L

Drugs & Compounds
for KCNE1L

Transcripts
for KCNE1L

Expression
for KCNE1L

Orthologs
for KCNE1L

Paralogs
for KCNE1L

SNPs/Variants
for KCNE1L

Disorders & Mutations
for KCNE1L

Medical News
for KCNE1L

Publications
for KCNE1L

Licensable Technologies
for KCNE1L

Services
for KCNE1L