Kcne1 Gene Summary [Mouse]
Enables potassium channel regulator activity. Involved in potassium ion transmembrane transport; secretory granule organization; and vestibular nucleus development. Acts upstream of or within epithelial cell maturation; heart contraction; and regulation of heart rate by cardiac conduction. Part of voltage-gated potassium channel complex. Is active in apical plasma membrane. Is expressed in several structures, including ear; embryo ectoderm; genitourinary system; great vessel of heart; and heart. Used to study Jervell-Lange Nielsen syndrome. Human ortholog(s) of this gene implicated in Jervell-Lange Nielsen syndrome; atrial fibrillation; long QT syndrome; and long QT syndrome 5. Orthologous to human KCNE1 (potassium voltage-gated channel subfamily E regulatory subunit 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Kcne1 |
| Official Name | potassium voltage-gated channel, Isk-related subfamily, member 1 [Source:MGI Symbol;Acc:MGI:96673] |
| Ensembl ID | ENSMUSG00000039639 |
| Bio databases IDs | |
| Aliases | potassium voltage-gated channel, Isk-related subfamily, member 1 |
| Synonyms | 1sk, ISK, JLNS, JLNS2, LQT2/5, LQT5, MinK, nmf190, potassium voltage-gated channel, Isk-related subfamily, member 1, potassium voltage-gated channel subfamily E regulatory subunit 1 |
| Species | Mouse, Mus musculus |
| 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 mouse Kcne1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Slow voltage-gated potassium channel
- delayed rectifier potassium channel
- voltage-gated potassium channel
- cytoskeletal protein binding
- binding protein
- potassium channel regulator
- ion channel binding
- intracellular domain
- protein binding
- ion channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- heart failure
- atrial fibrillation
- non-insulin-dependent diabetes mellitus
- renal impairment
- disorder of coronary artery
- unstable angina
- hypertension
- coronary disease
- angina pectoris
- cardiovascular disorder
phenotypes
- abnormal auditory brainstem response
- abnormal behavior
- abnormal gait
- abnormal locomotor behavior
- abnormal motor capabilities/coordination/movement
- abnormal startle reflex
- decreased anxiety-related response
- decreased bone mineral content
- decreased bone mineral density
- decreased grip strength
- decreased lymphocyte cell number
- decreased prepulse inhibition
- decreased startle reflex
- decreased thigmotaxis
- decreased total body fat amount
- decreased vertical activity
- head bobbing
- hyperactivity
- impaired righting response
- increased circulating alkaline phosphatase level
- increased lean body mass
- increased mean corpuscular hemoglobin
- increased mean corpuscular volume
- tremors
- trunk curl
- abnormal adipose tissue amount
- abnormal anxiety-related response
- abnormal bone mineral density
- abnormal bone mineralization
- abnormal circulating renin level
- abnormal cochlea morphology
- abnormal cochlear sensory epithelium morphology
- abnormal crista ampullaris morphology
- abnormal crista ampullaris neuroepithelium morphology
- abnormal digestive system physiology
- abnormal ear physiology
- abnormal feces composition
- abnormal inner ear morphology
- abnormal inner ear vestibule morphology
- abnormal locomotor activation
- abnormal myocardial fiber physiology
- abnormal otolith morphology
- abnormal posture
- abnormal prepulse inhibition
- abnormal reflex
- abnormal scala media morphology
- abnormal semicircular canal morphology
- abnormal stria vascularis morphology
- abnormal tectorial membrane morphology
- abnormal vestibular dark cell morphology
- abnormal vestibular system physiology
- absent cochlear hair cells
- absent cochlear inner hair cells
- absent cochlear outer hair cells
- absent linear vestibular evoked potential
- absent organ of Corti
- absent outer hair cell stereocilia
- absent pinna reflex
- absent startle reflex
- absent vestibuloocular reflex
- ataxia
- bidirectional circling
- circling
- cochlear ganglion degeneration
- cochlear hair cell degeneration
- collapsed Reissner membrane
- deafness
- dehydration
- head tilt
- head tossing
- hypokalemia
- impaired coordination
- impaired limb coordination
- impaired swimming
- increased blood osmolality
- increased circulating aldosterone level
- increased circulating chloride level
- increased circulating sodium level
- increased hematocrit
- increased or absent threshold for auditory brainstem response
- organ of Corti degeneration
- prolonged QT interval
- small scala media
- stereotypic behavior
- unidirectional circling
- utricular macular degeneration
- vestibular dark cell degeneration
- vestibular hair cell degeneration
- vestibular saccular macula degeneration
role in cell
- activation in
- abnormal morphology
- repolarization
- degeneration
- response by
- action potential
- maturation
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
- cell surface
- perinuclear region
- cellular membrane
- Endoplasmic Reticulum
- apical membrane
- trans face of the Golgi apparatus
- Z line
- cis Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Kcne1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cardiac muscle cell action potential involved in contraction
- negative regulation of protein targeting to membrane
- membrane repolarization involved in regulation of cardiac muscle cell action potential
- cardiac muscle cell contraction
- membrane repolarization involved in regulation of action potential
- potassium ion transmembrane transport
- male gonad development
- secretory granule organization
- epithelial cell maturation
- regulation of ventricular cardiac muscle cell action potential
- regulation of ventricular cardiomyocyte membrane repolarization
- membrane repolarization
- vestibular nucleus development
- cellular response to light stimulus
- sensory perception of sound
- cellular response to cAMP
- cellular response to acidity
- regulation of heart rate by cardiac conduction
Cellular Component
Where in the cell the gene product is active
- Z disc
- voltage-gated potassium channel complex
- membrane raft
- apical plasma membrane
- plasma membrane
- cell surface
- lysosome
Molecular Function
What the gene product does at the molecular level
- voltage-gated potassium channel activity
- protein binding
- delayed rectifier potassium channel activity
- voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization
- ion channel binding
- potassium channel regulator activity
- telethonin binding