KCNH1
Sign in to saveAlso known as EAG, EAG1, Kv10.1, h-eag, TMBTS, ZLS1, hEAG1, potassium voltage-gated channel subfamily H member 1
Potassium voltage-gated channel subfamily H member 1 (KV10.1, EAG1) is an ion channel protein that in humans is encoded by the KCNH1 gene. Disease-causing (pathogenic) mutations in the KCNH1 gene cause KCNH1-related disorders, which can include symptoms such as mild-to-severe developmental delay, profound intellectual disability, neonatal hypotonia, myopathic facial appearance, and infantile-onset seizures. Aberrant overexpression of KCNH1 is associated with tumor progression.
Gene data
KCNH1- Name
- potassium voltage-gated channel subfamily H member 1
- Type
- protein-coding
- Position
- 210,676,823–211,134,183 (−)
- Aliases
- EAG, EAG1, K(V)10.1, Kv10.1, TMBTS, ZLS1, h-eag, hEAG, hEAG1
- Ensembl
- ENSG00000143473
- RefSeq RNA
- NM_002238.4, NM_172362.3, XM_017001246.2, XM_047419823.1, XM_047419829.1
- RefSeq protein
- NP_002229.1, NP_758872.1, XP_016856735.1, XP_047275779.1, XP_047275785.1
Voltage-gated potassium (Kv) channels 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. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
potassium voltage-gated channel subfamily H member 1
- Symbol
- KCNH1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:210,676,823-211,134,183
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~4 min read
Encyclopedic overview
9 sectionsContents
- Function
- Pathologies
- [[KCNH1-related disorders]]
- KCNH1 in cancer
- Interactions
- See also
- References
- Further reading
- External links
Potassium voltage-gated channel subfamily H member 1 (KV10.1, EAG1) is an ion channel protein that in humans is encoded by the KCNH1 gene. Disease-causing (pathogenic) mutations in the KCNH1 gene cause KCNH1-related disorders, which can include symptoms such as mild-to-severe developmental delay, profound intellectual disability, neonatal hypotonia, myopathic facial appearance, and infantile-onset seizures. Aberrant overexpression of KCNH1 is associated with tumor progression.
== Function == Expression of KCNH1 is predominantly restricted to the adult central nervous system. The KCNH1 gene encodes a homotetrameric highly-conserved voltage-gated potassium channel (KV10.1) thought to be responsible for reestablishing the membrane potential of excitatory neurons in response to high frequency firing.
Excerpted from Wikipedia’s “KCNH1” article, available under the CC BY-SA 4.0 licence.