KCNQ1 [The Human Chemical-Genetic Interaction Map Project]

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======= KCNQ1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: KCNQ1
  * **<color #00a2e8>Official Name</color>**: potassium voltage-gated channel subfamily Q member 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=3784|3784]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P51787|P51787]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=KCNQ1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20KCNQ1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607542|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (By similarity) (PubMed:10646604). Associates with KCNE beta subunits that modulates current kinetics (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:19687231). Induces a voltage-dependent by rapidly activating and slowly deactivating potassium-selective outward current (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Promotes also a delayed voltage activated potassium current showing outward rectification characteristic (By similarity). During beta- adrenergic receptor stimulation participates in cardiac repolarization by associating with KCNE1 to form the I(Ks) cardiac potassium current that increases the amplitude and slows down the activation kinetics of outward potassium current I(Ks) (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current (PubMed:10713961). When associated with KCNE3, forms the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (PubMed:10646604). This interaction with KCNE3 is reduced by 17beta-estradiol, resulting in the reduction of currents (By similarity). During conditions of increased substrate load, maintains the driving force for proximal tubular and intestinal sodium ions absorption, gastric acid secretion, and cAMP-induced jejunal chloride ions secretion (By similarity). Allows the provision of potassium ions to the luminal membrane of the secretory canaliculus in the resting state as well as during stimulated acid secretion (By similarity). When associated with KCNE2, forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505). When associated with KCNE4, inhibits voltage-gated potassium channel activity (PubMed:19687231). When associated with KCNE5, this complex only conducts current upon strong and continued depolarization (PubMed:12324418). Also forms a heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed:24855057). Binds with phosphatidylinositol 4,5- bisphosphate (PubMed:25037568). {ECO:0000250|UniProtKB:P97414, ECO:0000250|UniProtKB:Q9Z0N7, ECO:0000269|PubMed:10646604, ECO:0000269|PubMed:10713961, ECO:0000269|PubMed:11101505, ECO:0000269|PubMed:12324418, ECO:0000269|PubMed:19687231, ECO:0000269|PubMed:24855057, ECO:0000269|PubMed:25037568, ECO:0000269|PubMed:8900283, ECO:0000269|PubMed:9108097, ECO:0000269|PubMed:9312006}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|KCNQ channel|
|Ion trans|
|Ion trans 2|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization|
|atrial cardiac muscle cell membrane repolarization|
|membrane repolarization during atrial cardiac muscle cell action potential|
|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization|
|regulation of atrial cardiac muscle cell membrane repolarization|
|ion channel complex|
|positive regulation of cardiac muscle contraction|
|outward rectifier potassium channel activity|
|membrane repolarization during ventricular cardiac muscle cell action potential|
|regulation of gastric acid secretion|
|ventricular cardiac muscle cell membrane repolarization|
|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization|
|cellular response to epinephrine stimulus|
|protein kinase A catalytic subunit binding|
|atrial cardiac muscle cell action potential|
|renal absorption|
|atrial cardiac muscle cell to AV node cell signaling|
|positive regulation of striated muscle contraction|
|atrial cardiac muscle cell to AV node cell communication|
|potassium ion export across plasma membrane|
|response to epinephrine|
|regulation of gene expression by genetic imprinting|
|cardiac muscle cell membrane repolarization|
|membrane repolarization during cardiac muscle cell action potential|
|membrane repolarization during action potential|
|protein phosphatase 1 binding|
|protein kinase A regulatory subunit binding|
|ventricular cardiac muscle cell action potential|
|membrane repolarization|
|genetic imprinting|
|regulation of ventricular cardiac muscle cell membrane repolarization|
|positive regulation of heart rate|
|cell-cell signaling involved in cardiac conduction|
|regulation of cardiac muscle cell membrane repolarization|
|intestinal absorption|
|delayed rectifier potassium channel activity|
|regulation of membrane repolarization|
|regulation of heart rate by cardiac conduction|
|positive regulation of heart contraction|
|positive regulation of potassium ion transmembrane transport|
|cardiac muscle cell action potential involved in contraction|
|export across plasma membrane|
|regulation of digestive system process|
|cardiac muscle cell contraction|
|cell communication involved in cardiac conduction|
|positive regulation of potassium ion transport|
|positive regulation of muscle contraction|
|cardiac muscle cell action potential|
|cellular response to cAMP|
|scaffold protein binding|
|voltage-gated potassium channel activity|
|positive regulation of blood circulation|
|digestive system process|
|phosphatidylinositol-4,5-bisphosphate binding|
|regulation of cardiac muscle contraction|
|cardiac muscle contraction|
|regulation of potassium ion transmembrane transport|
|voltage-gated potassium channel complex|
|heart contraction|
|actin-mediated cell contraction|
|regulation of striated muscle contraction|
|cardiac conduction|
|action potential|
|regulation of potassium ion transport|
|regulation of heart rate|
|response to cAMP|
|heart process|
|cellular response to catecholamine stimulus|
|cellular response to monoamine stimulus|
|response to catecholamine|
|response to monoamine|
|striated muscle contraction|
|actin filament-based movement|
|renal system process|
|digestion|
|ion channel binding|
|late endosome|
|multicellular organismal signaling|
|response to organophosphorus|
|positive regulation of cation transmembrane transport|
|cytoplasmic vesicle membrane|
|sensory perception of sound|
|gene silencing|
|response to purine-containing compound|
|positive regulation of ion transmembrane transport|
|potassium ion transmembrane transport|
|regulation of muscle contraction|
|sensory perception of mechanical stimulus|
|potassium ion transport|
|inner ear development|
|basolateral plasma membrane|
|calmodulin binding|
|positive regulation of transmembrane transport|
|ear development|
|membrane raft|
|regulation of muscle system process|
|regulation of gene expression, epigenetic|
|regulation of heart contraction|
|muscle contraction|
|lysosome|
|early endosome|
|positive regulation of ion transport|
|regulation of blood circulation|
|muscle system process|
|regulation of cation transmembrane transport|
|regulation of metal ion transport|
|blood circulation|
|circulatory system process|
|monovalent inorganic cation transport|
|cellular response to drug|
|regulation of membrane potential|
|regulation of ion transmembrane transport|
|cardiovascular system development|
|cellular response to organic cyclic compound|
|sensory organ development|
|inorganic cation transmembrane transport|
|regulation of transmembrane transport|
|actin filament-based process|
|regulation of system process|
|cellular response to organonitrogen compound|
|cation transmembrane transport|
|metal ion transport|
|inorganic ion transmembrane transport|
|cellular response to nitrogen compound|
|regulation of ion transport|
|regulation of secretion|
|cation transport|
|circulatory system development|
|response to organic cyclic compound|
|ion transmembrane transport|
|sensory perception|
|positive regulation of transport|
|response to organonitrogen compound|
|endoplasmic reticulum|
|response to drug|
|export from cell|
|cellular response to oxygen-containing compound|
|response to nitrogen compound|
|cell-cell signaling|
|cellular response to endogenous stimulus|
|transmembrane transport|
|ion transport|
|nervous system process|
|response to endogenous stimulus|
|movement of cell or subcellular component|
|response to oxygen-containing compound|
|negative regulation of gene expression|
|positive regulation of multicellular organismal process|
|regulation of transport|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp72|LB-100 4.1μM R02 exp72]]|-1.95|
|[[:results:exp209|Deguelin 0.15μM R05 exp209]]|-1.85|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 16831
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -5.6 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='KCNQ1 Expression in NALM6 Cells: -5.6'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>