KCNQ1 Gene Summary [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]
Details
| Type | Protein Coding |
| Official Symbol | KCNQ1 |
| Official Name | potassium voltage-gated channel subfamily Q member 1 [Source:HGNC Symbol;Acc:HGNC:6294] |
| Ensembl ID | ENSG00000053918 |
| Bio databases IDs | |
| Aliases | potassium voltage-gated channel subfamily Q member 1, Jervell and Lange-Nielsen syndrome 1 |
| Synonyms | ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, Kv1.9, Kv7.1, KVLQT1, LQT, LQT1, potassium voltage-gated channel subfamily Q member 1, potassium voltage-gated channel, subfamily Q, member 1, RWS, SQT2, WRS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human KCNQ1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- potassium channel
- ubiquitin protein ligase binding
- outward rectifier potassium channel
- delayed rectifier potassium channel
- protein kinase A binding
- protein kinase binding
- Ion transport protein
- calmodulin binding
- leucine zipper domain
- protein binding
- pore domain
- identical protein binding
- ion channel
- voltage-gated potassium channel
- protein phosphatase 1 binding
- phosphatidylinositol-4,5-bisphosphate binding
- transmembrane domain
- ion channel binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cognitive impairment
- Parkinson disease
- non-insulin-dependent diabetes mellitus
- diabetes mellitus
- long-QT syndrome
- Jervell and Lange-Nielsen syndrome type 1
- metabolic syndrome X
- long QT syndrome 1
- ventricular fibrillation
- arrhythmia
role in cell
- differentiation
- proliferation
- apoptosis
- transmembrane potential
- degeneration
- repolarization
- response by
- assembly
- maturation in
- homeostasis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- apical compartment
- basolateral cell compartment
- cellular membrane
- lysosome
- Endoplasmic Reticulum
- cytosol
- apical membrane
- basolateral membrane
- zymogen granules
- neurites
- sarcolemma
- early endosomes
- late endosomes
- transport vesicles
- membrane rafts
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KCNQ1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of heart rate
- membrane repolarization involved in regulation of cardiac muscle cell action potential
- regulation of atrial cardiac muscle cell action potential
- membrane repolarization involved in regulation of action potential
- inner ear development
- potassium ion homeostasis
- regulation of membrane repolarization
- regulation of ventricular cardiomyocyte membrane repolarization
- cardiac muscle contraction
- glucose metabolic process
- sensory perception of sound
- heart development
- intestinal absorption
- response to insulin stimulus
- cellular response to epinephrine stimulus
- adrenergic receptor signaling pathway
- iodide transport
- corticosterone secretion
- regulation of action potential
- detection of mechanical stimulus involved in sensory perception of sound
- cellular chloride ion homeostasis
- social behavior
- cardiac muscle cell contraction
- positive regulation of cardiac muscle contraction
- regulation of gastric acid secretion
- potassium ion transmembrane transport
- cochlea development
- regulation of atrial cardiomyocyte membrane repolarization
- regulation of ventricular cardiac muscle cell action potential
- regulation of heart contraction
- regulation of blood pressure
- auditory receptor cell development
- rhythmic behavior
- renal sodium ion absorption
- gastrin-induced gastric acid secretion
- renal absorption
- erythrocyte differentiation
- inner ear morphogenesis
- cellular response to cAMP
- regulation of heart rate by cardiac conduction
- cellular response to xenobiotic stimulus
Cellular Component
Where in the cell the gene product is active
- voltage-gated potassium channel complex
- late endosome
- endoplasmic reticulum
- neuronal cell body
- neuron projection
- plasma membrane
- lysosome
- early endosome
- cytoplasmic vesicle membrane
- cytoplasm
- membrane raft
- membrane
- transport vesicle
- basolateral plasma membrane
- ion channel complex
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- voltage-gated potassium channel activity involved in atrial cardiomyocyte action potential repolarization
- delayed rectifier potassium channel activity
- outward rectifier potassium channel activity
- protein phosphatase 1 binding
- voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
- ion channel binding
- phosphatidylinositol-4,5-bisphosphate binding
- voltage-gated potassium channel activity
- scaffold protein binding
- calmodulin binding
- protein binding
- protein kinase A regulatory subunit binding
- protein kinase A catalytic subunit binding