KvLQT1

KCNQ1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3BJ4, 3HFC, 3HFE, 4UMO, 4V0C
Identifiers
Aliases	KCNQ1, ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS, potassium voltage-gated channel subfamily Q member 1
External IDs	OMIM: 607542; MGI: 108083; HomoloGene: 85014; GeneCards: KCNQ1; OMA:KCNQ1 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11p15.5-p15.4 Start 2,444,684 bp[1] End 2,849,105 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 F5|7 88.12 cM Start 142,660,099 bp[2] End 142,980,779 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left adrenal cortex right adrenal cortex body of pancreas duodenum left lobe of thyroid gland right lobe of thyroid gland body of stomach apex of heart monocyte left ventricle Top expressed in epithelium of stomach stria vascularis crypt of lieberkuhn of small intestine pyloric antrum myocardium of atrium Paneth cell right ventricle mucous cell of stomach secondary oocyte myocardium of ventricle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization scaffold protein binding protein kinase A regulatory subunit binding calmodulin binding ion channel activity voltage-gated potassium channel activity transmembrane transporter binding outward rectifier potassium channel activity delayed rectifier potassium channel activity potassium channel activity protein binding 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 Cellular component integral component of membrane cytoplasmic vesicle endosome cytoplasmic vesicle membrane voltage-gated potassium channel complex membrane lysosome endoplasmic reticulum membrane raft basolateral plasma membrane plasma membrane ion channel complex cytoplasm late endosome early endosome Biological process regulation of ventricular cardiac muscle cell membrane repolarization negative regulation of delayed rectifier potassium channel activity intestinal absorption 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 hearing atrial cardiac muscle cell action potential regulation of heart rate by cardiac conduction cellular response to cAMP regulation of gastric acid secretion transmembrane transport 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
Orthologs Species Human Mouse Entrez 3784 16535 Ensembl ENSG00000282076 ENSG00000053918 ENSMUSG00000009545 UniProt P51787 P97414 RefSeq (mRNA) NM_181798 NM_000218 NM_181797 NM_008434 RefSeq (protein) NP_000209 NP_861463 NP_032460 Location (UCSC) Chr 11: 2.44 – 2.85 Mb Chr 7: 142.66 – 142.98 Mb PubMed search [3] [4]
Wikidata
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K_v7.1 (KvLQT1) is a potassium channel protein whose primary subunit in humans is encoded by the KCNQ1 gene.^[5] It's mutation causes Long QT syndrome, K_v7.1 is a voltage and lipid-gated potassium channel present in the cell membranes of cardiac tissue and in inner ear neurons among other tissues. In the cardiac cells, K_v7.1 mediates the I_Ks (or slow delayed rectifying K⁺) current that contributes to the repolarization of the cell, terminating the cardiac action potential and thereby the heart's contraction. It is a member of the KCNQ family of potassium channels.