KCNE1 From Wikipedia, the free encyclopedia PDBRecherche UniProt humaine: PDBe RCSB AliasKCNE1IDs externesOMIM: 176261 GeneCards: KCNE1 Chr.Chromosome 21 humain[1]KCNE1Structures disponiblesPDBRecherche UniProt humaine: PDBe RCSB Identifiants PDB2K21IdentifiantsAliasKCNE1IDs externesOMIM: 176261 GeneCards: KCNE1 Position du gène (humain)Chr.Chromosome 21 humain[1]Locus21q22.12Début34,446,688 bp[1]Fin34,512,214 bp[1]Expression géniqueBgeeHumainSouris (orthologue)Fortement exprimé danssangmonocyteolfactory zone of nasal mucosagranulocyteratepoumon droitupper lobe of left lungapex of heartcellule de la moelle osseusetrompes de Fallopen/aPlus de données d'expression de référenceBioGPSPlus de données d'expression de référenceGene OntologyFonction moléculaire potassium channel activity delayed rectifier potassium channel activity voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization voltage-gated ion channel activity telethonin binding potassium channel regulator activity liaison protéique voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization voltage-gated potassium channel activity transmembrane transporter binding Composant cellulaire membrane integral component of membrane voltage-gated potassium channel complex membrane plasmique surface cellulaire Z discdkac apical plasma membrane radeau lipidique lysosome Processus biologique regulation of ion transmembrane transport protein O-linked glycosylation ventricular cardiac muscle cell action potential cardiac muscle cell action potential involved in contraction ion transport ouïe potassium ion transport membrane repolarization negative regulation of protein targeting to membrane membrane repolarization during action potential regulation of delayed rectifier potassium channel activity cardiac conduction potassium ion transmembrane transport positive regulation of potassium ion transmembrane transport protein N-linked glycosylation membrane repolarization during cardiac muscle cell action potential regulation of heart rate by cardiac conduction regulation of potassium ion transmembrane transport negative regulation of delayed rectifier potassium channel activity cellular response to cAMP regulation of ventricular cardiac muscle cell membrane repolarization membrane repolarization during ventricular cardiac muscle cell action potential transport potassium ion export across plasma membrane Sources:Amigo / QuickGOOrthologuesEspècesHommeSourisEntrez3753n/aEnsemblENSG00000180509n/aUniProtP15382Q6FHJ6n/aRefSeq (mRNA)NM_000219NM_001127668NM_001127669NM_001127670NM_001270402NM_001270403NM_001270404NM_001270405n/aRefSeq (protéine)NP_000210NP_001121140NP_001121141NP_001121142NP_001257331NP_001257332NP_001257333NP_001257334NP_000210.2n/aLocalisation (UCSC)Chr 21: 34.45 – 34.51 Mbn/aPublication PubMed[2]n/aWikidataVoir/Editer Humain KCNE1 est un gène situé sur le chromosome 21 humain[3]. Syndrome du QT long congénital isolé associé à KCNE1[4] Syndrome de Jervell et Lange-Nielsen Notes et références 1 2 3 GRCh38: Ensembl release 89: ENSG00000180509 - Ensembl, May 2017 ↑ « Publications PubMed pour l'Homme », sur National Center for Biotechnology Information, U.S. National Library of Medicine ↑ « KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 [Homo sapiens (human)] - Gene - NCBI », sur www.ncbi.nlm.nih.gov (consulté le 4 avril 2026) ↑ « Orphanet: KCNE1-potassium voltage-gated channel subfamily E regulatory subunit 1 », sur www.orpha.net (consulté le 4 avril 2026) v · mChromosome 21 humain Gènes CBS COL6A1 COL6A2 COL18A1 KCNE1 Maladies liées Holoprosencéphalie Homocystinurie Maladie d'Unverricht-Lundborg Syndrome de Romano-Ward Syndrome de Jervell et Lange-Nielsen Syndrome d'Usher Trisomie 21 Portail de la biologie cellulaire et moléculaire Portail de la médecine Related Articles
