KCNH1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
KCNH1
Official Name
potassium voltage-gated channel subfamily H member 1 [Source:HGNC Symbol;Acc:HGNC:6250]
Ensembl ID
ENSG00000143473
Bio databases IDs NCBI: 3756 Ensembl: ENSG00000143473
Aliases potassium voltage-gated channel subfamily H member 1, ether-a-go-go 1
Synonyms EAG, EAG1, hEAG, hEAG1, Hs.553187, K(V)10.1, Kv10.1, M-eag, mEAG1, potassium voltage-gated channel, subfamily H (eag-related), member 1, potassium voltage-gated channel subfamily H member 1, TMBTS, ZLS, ZLS1
Species
Human, Homo sapiens
OrthologiesMouseRat

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 KCNH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • delayed rectifier potassium channel
  • protein kinase binding
  • Ion transport protein
  • calmodulin binding
  • PAS domain S-box
  • PAS
  • protein binding
  • pore domain
  • identical protein binding
  • ion channel
  • PAS fold
  • Cyclic nucleotide-monophosphate binding domain
  • phosphatidylinositol binding
  • nucleotide-binding domain
  • Cyclic nucleotide-binding domain
  • binding protein
  • PAS domain
  • transmembrane domain
  • ion channel binding
  • C-terminal assembly domain
  • assembly domain
  • Motif C-terminal to PAS motifs (likely to contribute to PAS structural domain)
  • voltage-gated ion channel
  • CAP_ED

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • liver cancer
  • epithelial cancer
  • neoplasia
  • epithelial neoplasia
  • cancer
  • liver neoplasia
  • Zimmermann-Laband syndrome type 1
  • hereditary disorder
  • KCNH1 associated disorder
  • Temple-Baraitser syndrome
regulated by
regulates
  • K+
  • ion
  • cyclin D
  • cdc2
  • catecholamine
  • KCNH1
  • LY 97241
role in cell
  • growth
  • invasion by
  • migration
  • proliferation
  • formation
  • formation in
  • length
  • quantity
  • cell cycle progression
  • response by

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
  • intracellular membrane-bounded organelle
  • cell surface
  • perinuclear region
  • cellular membrane
  • primary cilia
  • presynaptic membrane
  • synaptic membrane
  • lateral plasma membrane
  • endosomal membrane
  • inner nuclear membrane
  • axonal membrane
  • transverse tubules
  • perikaryon
  • axons
  • dendrites
  • excitatory synapses

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human KCNH1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • potassium ion transport
  • regulation of membrane potential
  • potassium ion transmembrane transport
  • cellular response to calcium ion
  • myoblast fusion
  • regulation of cell proliferation

Cellular Component

Where in the cell the gene product is active
  • early endosome membrane
  • presynaptic membrane
  • dendrite
  • nuclear inner membrane
  • intracellular membrane-bounded organelle
  • voltage-gated potassium channel complex
  • perikaryon
  • axon
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • calmodulin binding
  • protein binding
  • delayed rectifier potassium channel activity
  • cyclic nucleotide binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.