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MGP001742

UniProt Annotations

Entry Information

Gene Name	potassium channel, voltage gated KQT-like subfamily Q, member 1
Protein Entry	KCNQ1_HUMAN
UniProt ID	P51787
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist.; Name=1; IsoId=P51787-1; Sequence=Displayed; Name=2; Synonyms=TKvLQT1; IsoId=P51787-2; Sequence=VSP_000981, VSP_000982; Note=Truncated isoform that is non-functional alone but modulatory when coexpressed with the full-length isoform 1.;
Disease	Atrial fibrillation, familial, 3 (ATFB3) [MIM:607554]: An autosomal dominant form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269\|PubMed:12522251}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269\|PubMed:18711366, ECO:0000269\|PubMed:18711367, ECO:0000269\|PubMed:24390345}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease	Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400]: An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. {ECO:0000269\|PubMed:10090886, ECO:0000269\|PubMed:10728423, ECO:0000269\|PubMed:9781056}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Long QT syndrome 1 (LQT1) [MIM:192500]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. {ECO:0000269\|PubMed:10024302, ECO:0000269\|PubMed:10220144, ECO:0000269\|PubMed:10220146, ECO:0000269\|PubMed:10367071, ECO:0000269\|PubMed:10482963, ECO:0000269\|PubMed:10728423, ECO:0000269\|PubMed:10973849, ECO:0000269\|PubMed:15840476, ECO:0000269\|PubMed:19540844, ECO:0000269\|PubMed:21241800, ECO:0000269\|PubMed:8528244, ECO:0000269\|PubMed:8818942, ECO:0000269\|PubMed:8872472, ECO:0000269\|PubMed:9024139, ECO:0000269\|PubMed:9272155, ECO:0000269\|PubMed:9302275, ECO:0000269\|PubMed:9386136, ECO:0000269\|PubMed:9482580, ECO:0000269\|PubMed:9570196, ECO:0000269\|PubMed:9641694, ECO:0000269\|PubMed:9693036, ECO:0000269\|PubMed:9702906, ECO:0000269\|PubMed:9799083, ECO:0000269\|PubMed:9927399, ECO:0000269\|Ref.21}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Short QT syndrome 2 (SQT2) [MIM:609621]: A heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It causes syncope and sudden death. {ECO:0000269\|PubMed:15159330}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	The coiled-coil domain mediates tetramerization.
Domain	The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
Function	Probably important in cardiac repolarization. Associates with KCNE1 (MinK) to form the I(Ks) cardiac potassium current. Elicits a rapidly activating, potassium-selective outward current. Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current in CHO cells in which cloned KCNQ1/KCNE1 channels were coexpressed with M1 muscarinic receptors. 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.
Interaction	P15382:KCNE1; NbExp=4; IntAct=EBI-359667, EBI-7043557;
Miscellaneous	Mutagenesis experiments were carried out by expressing in Xenopus oocytes or COS-7 cells KCNQ1 mutants either individually (homomultimers) or in combination with both wild-type KCNQ1 (mut/wt homomultimers) and minK (heteromultimers).
Sequence Caution	Sequence=BAA34739.1; Type=Frameshift; Positions=129, 159; Evidence={ECO:0000305};
Similarity	Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.1/KCNQ1 sub-subfamily. {ECO:0000305}.
Subcellular Location	Cell membrane {ECO:0000269\|PubMed:18165683}; Multi-pass membrane protein {ECO:0000269\|PubMed:18165683}. Cytoplasmic vesicle membrane {ECO:0000269\|PubMed:18165683}; Multi- pass membrane protein {ECO:0000269\|PubMed:18165683}.
Subunit	Heterotetramer with KCNE1 (MinK) or KCNE3 (MiRP2). Interacts with CALM. {ECO:0000269\|PubMed:18165683, ECO:0000269\|PubMed:19693805}.
Tissue Specificity	Abundantly expressed in heart, pancreas, prostate, kidney, small intestine and peripheral blood leukocytes. Less abundant in placenta, lung, spleen, colon, thymus, testis and ovaries.
Web Resource	Name=Wikipedia; Note=KvLQT1 entry; URL="http://en.wikipedia.org/wiki/KvLQT1";