KCNQ1

KCNQ1
Structures disponibles PDB Recherche d'orthologue : PDBe RCSB Identifiants PDB 3BJ4, 3HFC, 3HFE, 4UMO, 4V0C
Identifiants
Alias	KCNQ1
IDs externes	OMIM: 607542 MGI: 108083 HomoloGene: 85014 GeneCards: KCNQ1
Position du gène (humain) Chr. Chromosome 11 humain[1] Locus 11p15.5-p15.4 Début 2,444,684 bp[1] Fin 2,849,105 bp[1]
Position du gène (souris) Chr. Chromosome 7 (souris)[2] Locus 7 F5|7 88.12 cM Début 142,660,099 bp[2] Fin 142,980,779 bp[2]
Expression génique Bgee Humain Souris (orthologue) Fortement exprimé dans left adrenal cortex right adrenal cortex body of pancreas duodénum left lobe of thyroid gland right lobe of thyroid gland corps de l'estomac apex of heart monocyte ventricule gauche Fortement exprimé dans epithelium of stomach strie vasculaire crypt of lieberkuhn of small intestine antre du pylore myocardium of atrium cellule de Paneth ventricule droit mucous cell of stomach secondary oocyte myocardium of ventricle Plus de données d'expression de référence BioGPS Plus de données d'expression de référence
Gene Ontology Fonction moléculaire voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization scaffold protein binding protein kinase A regulatory subunit binding fixation de la calmoduline ion channel activity voltage-gated potassium channel activity transmembrane transporter binding outward rectifier potassium channel activity delayed rectifier potassium channel activity potassium channel activity liaison protéique phosphatidylinositol-4,5-bisphosphate binding protein kinase A catalytic subunit binding voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization protein phosphatase 1 binding voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization voltage-gated ion channel activity Composant cellulaire integral component of membrane vésicule cytoplasmique endosome membrane d'une vésicule cytoplasmique voltage-gated potassium channel complex membrane lysosome réticulum endoplasmique radeau lipidique basolateral plasma membrane membrane plasmique canal ionique cytoplasme late endosome early endosome Processus biologique regulation of ventricular cardiac muscle cell membrane repolarization negative regulation of delayed rectifier potassium channel activity absorption intestinale regulation of atrial cardiac muscle cell membrane repolarization positive regulation of cardiac muscle contraction cellular response to epinephrine stimulus positive regulation of potassium ion transmembrane transport renal absorption negative regulation of voltage-gated potassium channel activity inner ear development cardiac muscle contraction regulation of gene expression by genetic imprinting ouïe atrial cardiac muscle cell action potential regulation of heart rate by cardiac conduction cellular response to cAMP regulation of gastric acid secretion transport transmembranaire ventricular cardiac muscle cell action potential regulation of ion transmembrane transport regulation of membrane repolarization ion transport potassium ion export across plasma membrane positive regulation of heart rate potassium ion transmembrane transport membrane repolarization during cardiac muscle cell action potential potassium ion transport regulation of heart contraction membrane repolarization membrane repolarization during action potential membrane repolarization during ventricular cardiac muscle cell action potential membrane repolarization during atrial cardiac muscle cell action potential cardiac conduction Sources:Amigo / QuickGO
Orthologues Espèces Homme Souris Entrez 3784 16535 Ensembl ENSG00000282076 ENSG00000053918 ENSMUSG00000009545 UniProt P51787 P97414 RefSeq (mRNA) NM_181798 NM_000218 NM_181797 NM_008434 RefSeq (protéine) NP_000209 NP_861463 NP_032460 Localisation (UCSC) Chr 11: 2.44 – 2.85 Mb Chr 7: 142.66 – 142.98 Mb Publication PubMed [3] [4]
Wikidata
Voir/Editer Humain Voir/Editer Souris

KCNQ1 est un gène situé sur le chromosome 11 humain^[5].

• Syndrome du QT long congénital isolé associé à KCNQ1^[6]
• Syndrome de Jervell et Lange-Nielsen
• Fibrillation auriculaire héréditaire
• Syndrome du QT court congénital

• Portail de la biologie cellulaire et moléculaire
• Portail de la médecine