KCNE1L Gene
protein-coding GIFtS: 52
GCID: GC0XM108866
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KCNE1-like(Previous names: potassium voltage-gated channel, Isk-related family, member...)
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Aliases
for KCNE1L gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| KCNE1-Like1 | | AMMECR2 Protein2 | | Potassium Voltage-Gated Channel, Isk-Related Family, Member 1-Like1 2 | | Cardiac Voltage-Gated Potassium Channel Accessory Subunit 52 | | AMME Syndrome Candidate Gene 2 Protein2 3 | | Potassium Voltage-Gated Channel Subfamily E Member 1-Like Protein2 | | KCNE52 | | AMMECR23 |
Export aliases for KCNE1L gene to outside databasesPrevious GC identifers: GC0XM104169 GC0XM106013 GC0XM106892 GC0XM107630 GC0XM108673 GC0XM098489 |
Summaries
for KCNE1L gene(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 KCNE1L:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from bothfunctional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heartrate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cellvolume. This gene encodes a membrane protein which has sequence similarity to the KCNE1 gene product, a member of thepotassium channel, voltage-gated, isk-related subfamily. This intronless gene is deleted in AMME contiguous genesyndrome and may be involved in the cardiac and neurologic abnormalities found in the AMME contiguous gene syndrome.(provided by RefSeq, Jul 2008)
Gene Wiki entry for KCNE1L
|
Genomic Views
for KCNE1L gene
(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)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_011651.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KCNE1L gene promoter:
E2F-4 E2F-3a E2F-5 AP-1 E2F-2 RORalpha2 c-Ets-1 E2F E2F-1 FOXO1a
Other transcription factors
Search SABiosciences Chromatin IP Primers for KCNE1L
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNE1L |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xq22.3 Ensembl cytogenetic band: Xq23 HGNC cytogenetic band: Xq22.3KCNE1L Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM108866: view genomic region
(about GC identifiers)
Start:
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108,866,929 bp from pter |
End:
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108,868,393 bp from pter |
Size:
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1,465 bases |
Orientation:
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minus strand |
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Proteins
for KCNE1L gene
(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: 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 proteinExplore the universe of human proteins at neXtProt for KCNE1L: NX_Q9UJ90
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UJ90
KCNE1L Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_036414.1
ENSEMBL proteins: ENSP00000361173
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008076 | voltage-gated potassium channel complex |
TAS | 10493825 |
KCNE1L for ontologies About GeneDecksing
KCNE1L Antibody Products:
Assay Products for KCNE1L: |
Protein
Domains /
Families
for KCNE1L gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q9UJ90 UniProtKB/Swiss-Prot: KCE1L_HUMAN, Q9UJ90Similarity: Belongs to the potassium channel KCNE family |
Function
for KCNE1L gene
(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:
Genatlas biochemistry entry for KCNE1L:neuromuscular specific protein,expressed in heart,skeletal muscle,spinal cord and brain,gene syndrome deleted withCOL4A5,in the AMME contiguous and other genes
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KCNE1L (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KCNE1L
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNE1L |
1 GenomeRNAi human phenotype for KCNE1L:
Animal Models:
Mouse knock-out Kcne1ltm1Lex for KCNE1L
1 MGI phenotypic allele  for Kcne1l (no phenotypes)
KCNE1L for phenotypes About GeneDecksing
|
Pathways & Interactions
for KCNE1L gene
(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 |
|---|
| 1 | Antiarrhythmic Pathway, Pharmacodynamics | |
1  PharmGKB Pathway for KCNE1L
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNE1L
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008016 | regulation of heart contraction |
TAS | 10493825 |
KCNE1L for ontologies About GeneDecksing
|
Drugs & Compounds
for KCNE1L gene(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
|
 Browse Tocris compounds for KCNE1L
Search CenterWatch for drugs/clinical trials and news about KCNE1L / KCE1L
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Transcripts
for KCNE1L gene(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 KCNE1L gene: NM_012282.2 Unigene Cluster for KCNE1L: KCNE1-like Hs.522753 [show with all ESTs]Unigene Representative Sequence: AK2233061 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000372101(uc004eoh.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KCNE1L (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KCNE1L
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: KCNE1L (NM_012282) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KCNE1L | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCNE1L |
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): AA195994 BC035330 NM_012282 AI380172 BX282740 AA047536 W90270 AI094604 AA047636 BP367195 BI754381 BE048423 W94014 BI752621 AA977440 BF112017 AI051276 AA195817 AJ012743 AF086499 AI349409 BE856206 AI086317 BE048380
GeneLoc Exon Structure
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Expression
for KCNE1L gene
(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
| KCNE1L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATCTTCTACG
About this image
See KCNE1L Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCNE1L
SOURCE GeneReport for Unigene cluster: Hs.522753
UniProtKB/Swiss-Prot: KCE1L_HUMAN, Q9UJ90Tissue specificity: Highly expressed in heart, skeletal muscle, brain, spinal cord and placenta
SABiosciences Custom PCR Arrays for KCNE1L
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KCNE1L
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KCNE1L | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KCNE1L | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KCNE1L | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNE1L |
Orthologs
for KCNE1L gene
(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
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This gene was present in the common ancestor of chordates.
Orthologs for KCNE1L gene from 3/7 species (see all 7) About this table
ENSEMBL Gene Tree for KCNE1L (if available)
TreeFam Gene Tree for KCNE1L (if available) |
Paralogs
for KCNE1L gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for KCNE1L gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KCNE1L (108866929 - 108868393 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for KCNE1L
1 CNV: 4163
Human Gene Mutation Database (HGMD): KCNE1L
Locus Specific Mutation Databases (LSDB): KCNE1L
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KCNE1L |
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Disorders
/ Diseases
for KCNE1L gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
KCNE1L for disorders About GeneDecksing
OMIM gene information: 300328
OMIM disorders: --
UniProtKB/Swiss-Prot: KCE1L_HUMAN, Q9UJ90
Defects in KCNE1L are involved in Alport syndrome with mental retardation midface hypoplasia andelliptocytosis (ATS-MR) [MIM:300194]. A X-linked contiguous gene deletion syndrome characterized byglomerulonephritis, deafness, mental retardation, midface hypoplasia and elliptocytosis
8  diseases for KCNE1L: About MalaCardslong qt syndrome atrial fibrillation familial atrial fibrillation alport syndrome
elliptocytosis ventricular fibrillation quadriplegia neuronitis
2 diseases from the University of Copenhagen DISEASES database for KCNE1L:Brugada syndrome Long QT syndrome Genetic Association Database (GAD): KCNE1L
Human Genome Epidemiology (HuGE) Navigator: KCNE1L (3 documents)
Export disorders for KCNE1L gene to outside databases
|
Publications
for KCNE1L gene (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)
About This Section
|
PubMed articles for KCNE1L gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with KCNE1L) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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, 9 Piccini M.... Renieri A. (1999)
- Relation of 97T polymorphism in KCNE5 to risk of atrial fibrillation. (PubMed id 16054468)1, 4 Ravn L.S....Christiansen M. (2005)
- Does KCNE5 play a role in long QT syndrome? (PubMed id 15193977)1, 4 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)1, 2 Gerhard D.S....Malek J. (2004)
- KCNE5 polymorphism rs697829 is associated with QT inte rval and survival in acute coronary syndromes patients. (PubMed id 21985337)1 Palmer B.R....Cameron V.A. (2012)
- KCNE5 (KCNE1L) variants are novel modulators of Bruga da syndrome and idiopathic ventricular fibrillation. (PubMed id 21493962)1 Ohno S....Horie M. (2011)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- Novel expression and regulation of voltage-dependent potassium channels in placentas from women with preeclampsia. (PubMed id 21730298)1 Mistry H.D....Tribe R.M. (2011)
- Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation. (PubMed id 18313602)1 Ravn L.S....Antzelevitch C. (2008)
- Expression and transcriptional control of human KCNE genes. (PubMed id 16303284)1 Lundquist A.L.... George A.L. Jr (2006)
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External Searches for KCNE1L gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing KCNE1L gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KCNE1L gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KCNE1L gene(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 KCNE1L | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for KCNE1L gene:
Search GeneIP for patents involving KCNE1L
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KCNE1L gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for KCNE1L | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KCNE1L | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KCNE1L | | | OriGene Protein Over-expression Lysate for KCNE1L | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for KCNE1L | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KCNE1L | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KCNE1L | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for KCNE1L | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KCNE1L | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KCNE1L | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNE1L | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KCNE1L | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KCNE1L | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KCNE1L |
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| | | | Search Tocris compounds for KCNE1L |
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 | | | KCNE1L Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNE1L |
|  |  |  | | | | ThermoFisher Antibodies for KCNE1L |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCNE1L |
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