KCNE1
Sign in to saveAlso known as ISK, JLNS, JLNS2, LQT2/5, LQT5, MinK, potassium voltage-gated channel subfamily E regulatory subunit 1
Potassium voltage-gated channel subfamily E member 1 is a protein that in humans is encoded by the KCNE1 gene.
Gene data
KCNE1- Name
- potassium voltage-gated channel subfamily E regulatory subunit 1
- Type
- protein-coding
- Position
- 34,446,688–34,512,214 (−)
- Aliases
- ISK, JLNS, JLNS2, LQT2/5, LQT5, MinK
- Ensembl
- ENSG00000180509
- RefSeq RNA
- NM_000219.6, NM_001127668.4, NM_001127669.4, NM_001127670.4, NM_001270402.3
- RefSeq protein
- NP_000210.2, NP_001121140.1, NP_001121141.1, NP_001121142.1, NP_001257331.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
potassium voltage-gated channel subfamily E regulatory subunit 1
- Symbol
- KCNE1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 21:34,446,688-34,512,214
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~9 min read
Encyclopedic overview
9 sectionsContents
- Function
- Structure
- Tissue distribution
- Clinical significance
- See also
- Notes
- References
- Further reading
- External links
Potassium voltage-gated channel subfamily E member 1 is a protein that in humans is encoded by the KCNE1 gene.
Voltage-gated potassium channels (Kv) represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume.
Excerpted from Wikipedia’s “KCNE1” article, available under the CC BY-SA 4.0 licence.