KCNE1 Gene Summary [Human]
The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | KCNE1 |
| Official Name | potassium voltage-gated channel subfamily E regulatory subunit 1 [Source:HGNC Symbol;Acc:HGNC:6240] |
| Ensembl ID | ENSG00000180509 |
| Bio databases IDs | |
| Aliases | potassium voltage-gated channel subfamily E regulatory subunit 1, Jervell and Lange-Nielsen syndrome 2, Long QT syndrome 5 |
| 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 | 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 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
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 human 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