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KCNH1

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For Research Use Only. Not For Clinical Use.


Background

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.
Protein class

Disease related genes, Human disease related genes, Potential drug targets, Transporters, Voltage-gated ion channels

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Excitatory neurons, Inhibitory neurons, Oligodendrocytes)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (LHCN-M2, RH-30, RPTEC TERT1, SH-SY5Y, SK-MEL-30, T-47d)

Interaction

The potassium channel is composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits. Heteromultimer with KCNH5/EAG2 (PubMed:11943152). Interacts with ALG10B (By similarity). Interacts with RABEP1 (By similarity). Interacts (via C-terminus) with CTTN (PubMed:23144454). Interacts (via C-terminal cytoplasmic region) with Ca(2+)-bound calmodulin (PubMed:10880439, PubMed:27325704, PubMed:27618660). Interacts with the spider kappa-theraphotoxin-Aa1a and mu/kappa-theraphotoxin-Ap1a (PubMed:30149017).

Molecular function

Calmodulin-binding, Ion channel, Potassium channel, Voltage-gated channel

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