KvLQT1 information

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)
End	2,849,105 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	142,980,779 bp
RNA expression pattern
	Top expressed in
	body of pancreas; ; duodenum; ; left lobe of thyroid gland; ; right lobe of thyroid gland; ; body of stomach; ; monocyte; ; left ventricle; ; kidney; ; blood; ; gallbladder;
	Top expressed in
	epithelium of stomach; ; stria vascularis; ; crypt of lieberkuhn of small intestine; ; pyloric antrum; ; Paneth cell; ; right ventricle; ; mucous cell of stomach; ; secondary oocyte; ; myocardium of ventricle; ; colon;
	More reference expression data
	; ; ; ;
	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
	3784
	16535
	ENSG00000282076; ENSG00000053918
	ENSMUSG00000009545
	P51787
	P97414
	NM_181798; NM_000218; NM_181797
	NM_008434
	NP_000209; NP_861463
	NP_032460
	Wikidata
View/Edit Human	View/Edit Mouse

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.

^ ^a ^b ^c ENSG00000053918 GRCh38: Ensembl release 89: ENSG00000282076, ENSG00000053918 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000009545 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Jespersen T, Grunnet M, Olesen SP (2005). "The KCNQ1 potassium channel: from gene to physiological function". Physiology. 20 (6): 408–416. doi:10.1152/physiol.00031.2005. PMID 16287990.

[refGRCh38Ensembl-1] ENSG00000053918 GRCh38: Ensembl release 89: ENSG00000282076, ENSG00000053918 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000009545 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid16287990-5] Jespersen T, Grunnet M, Olesen SP (2005). "The KCNQ1 potassium channel: from gene to physiological function". Physiology. 20 (6): 408–416. doi:10.1152/physiol.00031.2005. PMID 16287990.

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