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Gene: KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1) Homo sapiens
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Symbol: KCNE1
Name: potassium voltage-gated channel subfamily E regulatory subunit 1
CRRD ID: 736969
Description: Exhibits delayed rectifier potassium channel activity; potassium channel regulator activity; and telethonin binding activity. Contributes to voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization. Involved in several processes, including cellular response to cAMP; ion transmembrane transport; and regulation of ion transmembrane transport. Localizes to cell surface and voltage-gated potassium channel complex. Implicated in Jervell-Lange Nielsen syndrome; atrial fibrillation; long QT syndrome; and long QT syndrome 5. Biomarker of congestive heart failure and seminoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cardiac delayed rectifier potassium channel protein; delayed rectifier potassium channel subunit IsK; FLJ18426; FLJ38123; FLJ94103; IKs producing slow voltage-gated potassium channel subunit beta Mink; ISK; JLNS; JLNS2; Long QT syndrome 5; LQT2/5; LQT5; MGC33114; minimal potassium channel; MinK; potassium channel, voltage gated subfamily E regulatory beta subunit 1; 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
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2134,446,688 - 34,512,210 (-)EnsemblGRCh38hg38GRCh38
GRCh382134,446,688 - 34,512,210 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372135,790,910 - 35,884,573 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362134,740,858 - 34,806,443 (-)NCBINCBI36hg18NCBI36
Build 342134,740,858 - 34,806,443NCBI
Celera2121,018,555 - 21,083,181 (-)NCBI
Cytogenetic Map21q22.12ENTREZGENE
HuRef2121,297,857 - 21,363,444 (-)NCBIHuRef
CHM1_12135,381,239 - 35,446,817 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on KCNE1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 736969
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-10-20
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.