KCNE1

KCNE1 est un gène situé sur le chromosome 21 humain.

KCNE1
Structures disponibles PDB Recherche UniProt humaine: PDBe RCSB Identifiants PDB 2K21
Identifiants
Alias	KCNE1
IDs externes	OMIM: 176261 GeneCards: KCNE1
Position du gène (humain) Chr. Chromosome 21 humain Locus 21q22.12 Début 34,446,688 bp Fin 34,512,214 bp
Expression génique Bgee Humain Souris (orthologue) Fortement exprimé dans sang monocyte olfactory zone of nasal mucosa granulocyte rate poumon droit upper lobe of left lung apex of heart cellule de la moelle osseuse trompes de Fallope n/a Plus de données d'expression de référence BioGPS Plus de données d'expression de référence
Gene Ontology Fonction 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 / QuickGO
Orthologues Espèces Homme Souris Entrez 3753 n/a Ensembl ENSG00000180509 n/a UniProt P15382 Q6FHJ6 n/a RefSeq (mRNA) NM_000219 NM_001127668 NM_001127669 NM_001127670 NM_001270402 NM_001270403 NM_001270404 NM_001270405 n/a RefSeq (protéine) NP_000210 NP_001121140 NP_001121141 NP_001121142 NP_001257331 NP_001257332 NP_001257333 NP_001257334 NP_000210.2 n/a Localisation (UCSC) Chr 21: 34.45 – 34.51 Mb n/a Publication PubMed n/a
Wikidata
Voir/Editer Humain

Maladies liées

• Syndrome du QT long congénital isolé associé à KCNE1
• Syndrome de Jervell et Lange-Nielsen