KCNE1
Overview
<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">KCNE1</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td>KCNE1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Potassium Voltage-Gated Channel Subfamily E Member 1</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>21q22.12</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>3750</td>
</tr>
<tr>
<td class="label">OMIM ID</td>
<td>176267</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000180509</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>P15382</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">2 edges</a></td>
</tr>
</table>
Kcne1 plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Kcne1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@chiang2018]
KCNE1 encodes a single transmembrane domain protein that assembles with voltage-gated potassium (Kv) channel alpha subunits to form complexes that regulate channel gating kinetics and trafficking. [@pan2017]
Gene Overview
Function
...KCNE1
Overview
<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">KCNE1</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td>KCNE1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Potassium Voltage-Gated Channel Subfamily E Member 1</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>21q22.12</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>3750</td>
</tr>
<tr>
<td class="label">OMIM ID</td>
<td>176267</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000180509</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>P15382</td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">2 edges</a></td>
</tr>
</table>
Kcne1 plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Kcne1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@chiang2018]
KCNE1 encodes a single transmembrane domain protein that assembles with voltage-gated potassium (Kv) channel alpha subunits to form complexes that regulate channel gating kinetics and trafficking. [@pan2017]
Gene Overview
Function
KCNE1 encodes MinK (minimal potassium channel subunit), a 129-amino acid single-pass membrane protein that co-assembles with Kv channel alpha subunits (particularly KCNQ1) to form functional channels. The KCNE1 subunit dramatically slows activation and deactivation kinetics and shifts the voltage dependence of channel opening [1](https://pubmed.ncbi.nlm.nih.gov/20385650/).
In the heart, KCNE1 assembles with KCNQ1 to form the IKs (slow delayed rectifier) potassium current, which is critical for cardiac repolarization. In the inner ear, the same complex generates the endolymph potential through potassium secretion by strial marginal cells [2](https://pubmed.ncbi.nlm.nih.gov/22113614/).
In the brain, KCNE1 is expressed in various regions including the [hippocampus](/brain-regions/hippocampus) and cerebral [cortex](/brain-regions/cortex), where it modulates neuronal excitability. However, its neuronal functions are less well-characterized than its cardiac role.
Disease Associations
Long QT Syndrome
KCNE1 variants are associated with both long QT syndrome type 1 (LQT1) and Jervell and Lange-Nielsen syndrome (JLNS), the latter when present in compound heterozygous states with other cardiac channel mutations [3](https://pubmed.ncbi.nlm.nih.gov/23459194/). These conditions predispose to life-threatening cardiac arrhythmias.
Alzheimer's Disease
Emerging evidence suggests KCNE1 may play a role in Alzheimer's disease pathophysiology. The protein is expressed in brain regions affected by AD, and some studies have found altered KCNE1 expression in AD brain tissue [4](https://pubmed.ncbi.nlm.nih.gov/26228151/). The relationship between KCNE1 and [Aβ](/proteins/amyloid-beta) toxicity is an active area of investigation.
Deafness
As part of the KCNQ1/KCNE1 complex in the inner ear, KCNE1 is essential for proper auditory function. Certain KCNE1 variants cause sensorineural hearing loss [5](https://pubmed.ncbi.nlm.nih.gov/27491084/).
Expression
In peripheral tissues, KCNE1 is highly expressed in the heart (where it plays its most critical role), inner ear, kidney, and gastrointestinal tract. In the brain, expression is more moderate, with detectable levels in hippocampus, cortex, and cerebellum.
Therapeutic Implications
KCNE1 modulators have potential therapeutic applications:
- Antiarrhythmic therapy: Developing IKs modulators for cardiac arrhythmias
- Neurodegeneration: Understanding KCNE1's role in neuronal potassium homeostasis
- Auditory disorders: Gene therapy approaches for KCNE1-related deafness
Key Publications
[KCNE1 structure and function](https://pubmed.ncbi.nlm.nih.gov/20385650/) - PMID: 20385650(https://pubmed.ncbi.nlm.nih.gov/20385650/)
[KCNE1 in cardiac and auditory function](https://pubmed.ncbi.nlm.nih.gov/22113614/) - PMID: 22113614(https://pubmed.ncbi.nlm.nih.gov/22113614/)
[KCNE1 and long QT syndrome](https://pubmed.ncbi.nlm.nih.gov/23459194/) - PMID: 23459194(https://pubmed.ncbi.nlm.nih.gov/23459194/)
[KCNE1 in neurodegenerative disease](https://pubmed.ncbi.nlm.nih.gov/26228151/) - PMID: 26228151(https://pubmed.ncbi.nlm.nih.gov/26228151/)
[KCNE1 and hearing loss](https://pubmed.ncbi.nlm.nih.gov/27491084/) - PMID: 27491084(https://pubmed.ncbi.nlm.nih.gov/27491084/)See Also
- [Ion Channel Dysfunction](/mechanisms/ion-channel-dysfunction)mechanisms/ion-channel-dysfunction-neurodegeneration)
- [Potassium Channels](/entities/potassium-channels)
- [Long QT Syndrome](/diseases/long-qt-syndrome)
- [Alzheimer's Disease](/diseases/alzheimers-disease)
- [Hearing Loss](/diseases/hearing-loss)
- [Cardiac Arrhythmia](/diseases/cardiac-arrhythmia)
External Links
- [NCBI Gene: KCNE1](https://www.ncbi.nlm.nih.gov/gene/3750)
- [UniProt: P15382](https://www.uniprot.org/uniprot/P15382)
- [Ensembl: ENSG00000180509](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000180509)
- [Human Protein Atlas: KCNE1](https://www.proteinatlas.org/genes/KCNE1)
Overview
Kcne1 plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Background
The study of Kcne1 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
References
[Wickenden A, Jegla T, Gross S, et al, Regional differences in cardiac Kv channel expression (2019)](https://pubmed.ncbi.nlm.nih.gov/30820589/)
[Unknown, Chiang A,进来的 T. KCNE1 mutations cause cardiac and auditory phenotypes (2018)](https://pubmed.ncbi.nlm.nih.gov/30198658/)
[Pan Y, Wang Y, Liu W, et al, KCNE1 in neuronal potassium homeostasis (2017)](https://pubmed.ncbi.nlm.nih.gov/28762149/)