KCNH1

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]

Description

Potassium voltage-gated channel subfamily H member 1

Tissue specificity

Group enriched (brain, choroid plexus)

Subcell location

Vesicles

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Transporters
Voltage-gated ion channels

Chromosome

1 (210676823 - 211134165)

Ensembl ID

ENSG00000143473  (ver. 103.38)

Orthologs

-

UniProt

O95259

neXtProt

NX_O95259

Human splice variants

Protein structure