Potassium Voltage-Gated Channel Subfamily KQT Member 1 (KCNQ1) ELISA Kit for Human

This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

Kv7.1: a voltage-gated potassium channel protein required for the repolarization phase of the cardiac action potential. Associates with KCNE1 (MinK) to form the I(Ks) cardiac potassium current. Elicits a rapidly activating, potassium-selective outward current. May associate also with KCNE3 (MiRP2) to form the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions, which is reduced in cystic fibrosis and pathologically stimulated in cholera and other forms of secretory diarrhea. Abundantly expressed in heart, pancreas, prostate, kidney, small intestine and peripheral blood leukocytes. Less abundant in placenta, lung, spleen, colon, thymus, testis and ovaries. Three alternatively spliced isoforms have been described.

Protein type: Channel, potassium; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 11p15.5-p15.4

Cellular Component: basolateral plasma membrane; cytoplasm; cytoplasmic vesicle membrane; early endosome; endoplasmic reticulum; ion channel complex; late endosome; lysosome; membrane raft; plasma membrane; voltage-gated potassium channel complex

Molecular Function: calmodulin binding; delayed rectifier potassium channel activity; ion channel binding; outward rectifier potassium channel activity; phosphatidylinositol-4,5-bisphosphate binding; protein binding; protein phosphatase 1 binding; voltage-gated potassium channel activity; voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization; voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization; voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization

Biological Process: atrial cardiac muscle cell action potential; cardiac muscle contraction; cardiovascular system development; cellular response to cAMP; cellular response to epinephrine stimulus; gene silencing; genetic imprinting; inner ear development; intestinal absorption; membrane repolarization during action potential; membrane repolarization during atrial cardiac muscle cell action potential; membrane repolarization during cardiac muscle cell action potential; membrane repolarization during ventricular cardiac muscle cell action potential; positive regulation of heart rate; positive regulation of potassium ion transmembrane transport; potassium ion export; potassium ion transmembrane transport; regulation of heart contraction; regulation of heart rate by cardiac conduction; renal absorption; sensory perception of sound; ventricular cardiac muscle cell action potential

Disease: Atrial Fibrillation, Familial, 3; Beckwith-wiedemann Syndrome; Jervell And Lange-nielsen Syndrome 1; Long Qt Syndrome 1; Short Qt Syndrome 2