KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1)

2007-02-01  

Identity

HGNC
KCNE1
LOCATION
21q22.12
LOCUSID
3753
ALIAS
ISK,JLNS,JLNS2,LQT2/5,LQT5,MinK
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3753
MIM: 176261
HGNC: 6240
Ensembl: ENSG00000180509

Variants:

dbSNP: 3753
ClinVar: 3753
TCGA: ENSG00000180509
COSMIC: KCNE1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000180509ENST00000337385P15382
ENSG00000180509ENST00000337385C7S316
ENSG00000180509ENST00000399284P15382
ENSG00000180509ENST00000399284C7S316
ENSG00000180509ENST00000399286P15382
ENSG00000180509ENST00000399286C7S316
ENSG00000180509ENST00000399289P15382
ENSG00000180509ENST00000399289C7S316
ENSG00000180509ENST00000416357P15382
ENSG00000180509ENST00000416357C7S316
ENSG00000180509ENST00000432085P15382
ENSG00000180509ENST00000432085C7S316
ENSG00000180509ENST00000611936P15382
ENSG00000180509ENST00000611936C7S316
ENSG00000180509ENST00000621601P15382
ENSG00000180509ENST00000621601C7S316

Expression (GTEx)

0
1
2
3
4
5
6
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Phase 2 - plateau phaseREACTOMER-HSA-5576893
Phase 3 - rapid repolarisationREACTOMER-HSA-5576890

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA151249535diureticsChemicalClinicalAnnotationassociatedPD
PA164712406AntibioticsChemicalClinicalAnnotationassociatedPD
PA447300Acquired Long QT Syndrome (aLQTS)DiseaseLiterature, MultilinkAnnotationassociated24561134
PA448383amiodaroneChemicalClinicalAnnotationassociatedPD
PA451209quinidineChemicalClinicalAnnotationassociatedPD
PA451457sotalolChemicalClinicalAnnotationassociatedPD
PA452233antipsychoticsChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
349588682022PKC-isoform specific regulation of receptor desensitization and KCNQ1/KCNE1 K(+) channel activity by mutant α(1B)-adrenergic receptors.0
349588682022PKC-isoform specific regulation of receptor desensitization and KCNQ1/KCNE1 K(+) channel activity by mutant α(1B)-adrenergic receptors.0
333735862021KCNE1 is an auxiliary subunit of two distinct ion channel superfamilies.13
335176682021Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.2
337638652021Elevation of propofol sensitivity of cardiac I(Ks) channel by KCNE1 polymorphism D85N.0
340030172021Development of a Patient-Specific p.D85N-Potassium Voltage-Gated Channel Subfamily E Member 1-Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for Drug-Induced Long QT Syndrome.1
341958852021Genetic predictors of sick sinus syndrome.0
342821012021Association Analysis of Candidate Gene Polymorphisms and Tinnitus in Young Musicians.2
342853402021A general mechanism of KCNE1 modulation of KCNQ1 channels involving non-canonical VSD-PD coupling.4
333735862021KCNE1 is an auxiliary subunit of two distinct ion channel superfamilies.13
335176682021Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.2
337638652021Elevation of propofol sensitivity of cardiac I(Ks) channel by KCNE1 polymorphism D85N.0
340030172021Development of a Patient-Specific p.D85N-Potassium Voltage-Gated Channel Subfamily E Member 1-Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for Drug-Induced Long QT Syndrome.1
341958852021Genetic predictors of sick sinus syndrome.0
342821012021Association Analysis of Candidate Gene Polymorphisms and Tinnitus in Young Musicians.2

Citation

Dessen P

KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46537/js/lib/all.min.js