KCNC1

Potassium channel, voltage gated Shaw related subfamily C, member 1
Identifiers
Symbols	KCNC1 ; EPM7; KV3.1; KV4; NGK2
External IDs	OMIM: 176258 MGI: 96667 HomoloGene: 68134 IUPHAR: 548 ChEMBL: 5529 GeneCards: KCNC1 Gene
Gene ontology Molecular function • voltage-gated potassium channel activity • delayed rectifier potassium channel activity • kinesin binding • ion channel binding Cellular component • plasma membrane • voltage-gated potassium channel complex • cell surface • integral component of membrane • dendrite • axolemma • dendrite membrane • neuronal cell body membrane Biological process • potassium ion transport • synaptic transmission • response to toxic substance • response to light intensity • response to auditory stimulus • response to amine • cerebellum development • globus pallidus development • cellular response to drug • response to potassium ion • protein homooligomerization • response to fibroblast growth factor • potassium ion transmembrane transport • positive regulation of potassium ion transmembrane transport • response to nerve growth factor Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3746	16502
Ensembl	ENSG00000129159	ENSMUSG00000058975
UniProt	P48547	P15388
RefSeq (mRNA)	NM_001112741	NM_001112739
RefSeq (protein)	NP_001106212	NP_001106210
Location (UCSC)	Chr 11: 17.73 – 17.78 Mb	Chr 7: 46.4 – 46.44 Mb
PubMed search	[1]	[2]

Potassium voltage-gated channel subfamily C member 1 is a protein that in humans is encoded by the KCNC1 gene.

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and comprises four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes.

Expression pattern

K_v3.1 and K_v3.2 channels are prominently expressed in neurons that fire at high frequency. K_v3.1 channels are prominently expressed in brain (cerebellum > globus pallidus, subthalamic nucleus, substantia nigra > reticular thalamic nuclei, cortical and hippocampal interneurons > inferior colliculi, cochlear and vestibular nuclei), and in retinal ganglion cells.

Physiological role

K_v3.1/K_v3.2 conductance is necessary and kinetically optimized for high-frequency action potential generation. K_v3.1 channels are important for the high-firing frequency of auditory and fast-spiking GABAergic interneurons, retinal ganglion cells; regulation of action potential duration in presynaptic terminals.

Pharmacological properties

K_v3.1 currents in heterologous systems are highly sensitive to external tetraethylammonium (TEA) or 4-aminopyridine (4-AP) (IC₅₀ values are 0.2 mM and 29 μM respectively). This can be useful in identifying native channels. The overlapping sensitivity of potassium current to both 0.5 mM TEA and 30 μM 4-AP strongly suggest an action on K_v3.1 subunits.

Transcript variants

There are two transcript variants of K_v3.1 gene: K_v3.1a and K_v3.1b. K_v3.1 isoforms differ only in their C-terminal sequence.

Clinical significance

A missense mutation c.959G>A (p.Arg320His) in KCNC1 causes progressive myoclonus epilepsy.

See also

• Voltage-gated potassium channel

External links

• Kv3.1 Potassium Channel at the US National Library of Medicine Medical Subject Headings (MeSH)
• KCNC1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.