KCNC1

Protein-coding gene in the species Homo sapiens

KCNC1

Identifiers

Aliases

KCNC1, KV3.1, KV4, NGK2, EPM7, potassium voltage-gated channel subfamily C member 1

External IDs

OMIM: 176258 MGI: 96667 HomoloGene: 68134 GeneCards: KCNC1

Gene location (Human)

Chr.	Chromosome 11 (human)^[1]

Band	11p15.1	Start	17,734,774 bp^[1]
Band	11p15.1	End	17,856,804 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 7 (mouse)^[2]

Band	7 B3\|7 30.1 cM	Start	46,045,921 bp^[2]
Band	7 B3\|7 30.1 cM	End	46,088,128 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

cerebellar vermis

Brodmann area 9

prefrontal cortex

Brodmann area 23

cingulate gyrus

postcentral gyrus

middle temporal gyrus

superior frontal gyrus

entorhinal cortex

hypothalamus

Top expressed in

cerebellar cortex

cerebellar vermis

substantia nigra

pontine nuclei

lateral geniculate nucleus

medial geniculate nucleus

medial vestibular nucleus

dorsal tegmental nucleus

globus pallidus

lateral hypothalamus

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	potassium channel activity transmembrane transporter binding voltage-gated ion channel activity ion channel activity voltage-gated potassium channel activity delayed rectifier potassium channel activity kinesin binding voltage-gated ion channel activity involved in regulation of presynaptic membrane potential
Cellular component	integral component of membrane membrane voltage-gated potassium channel complex plasma membrane neuronal cell body membrane cell surface neuronal cell body dendrite neuron projection membrane axolemma dendrite membrane calyx of Held integral component of postsynaptic membrane integral component of presynaptic membrane axon
Biological process	response to potassium ion response to nerve growth factor response to fibroblast growth factor regulation of ion transmembrane transport ion transport protein tetramerization globus pallidus development cerebellum development potassium ion transport brain development transmembrane transport potassium ion transmembrane transport response to amine positive regulation of potassium ion transmembrane transport response to auditory stimulus response to light intensity protein homooligomerization positive regulation of ion transmembrane transport response to toxic substance regulation of potassium ion transmembrane transport positive regulation of voltage-gated potassium channel activity regulation of presynaptic membrane potential
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


3746


16502

Ensembl


ENSG00000129159


ENSMUSG00000058975

UniProt


P48547


P15388

RefSeq (mRNA)


NM_001112741 NM_004976


NM_001112739 NM_008421

RefSeq (protein)


NP_001106212 NP_004967


NP_001106210 NP_032447

Location (UCSC)

Chr 11: 17.73 – 17.86 Mb

Chr 7: 46.05 – 46.09 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Potassium voltage-gated channel subfamily C member 1 is a protein that in humans is encoded by the KCNC1 gene.^[5]^[6]^[7]

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.^[7]

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.^[8]^[9]^[10]

Physiological role

K_v3.1/K_v3.2 conductance is necessary and kinetically optimized for high-frequency action potential generation.^[9]^[11] 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.^[8]^[10]

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).^[9]^[10] This can be useful in identifying native channels.^[9] 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.^[12]

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.^[13]

Clinical significance

A missense mutation c.959G>A (p.Arg320His) in KCNC1 causes progressive myoclonus epilepsy.^[14]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000129159 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000058975 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Ried T, Rudy B, Vega-Saenz de Miera E, Lau D, Ward DC, Sen K (Apr 1993). "Localization of a highly conserved human potassium channel gene (NGK2-KV4; KCNC1) to chromosome 11p15". Genomics. 15 (2): 405–11. doi:10.1006/geno.1993.1075. PMID 8449507.
^ Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stuhmer W, Wang X (Dec 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104. S2CID 219195192.
^ ^a ^b "Entrez Gene: KCNC1 potassium voltage-gated channel, Shaw-related subfamily, member 1".
^ ^a ^b Kolodin YO (2008-04-27). "Ionic conductances underlying excitability in tonically firing retinal ganglion cells of adult rat". Retrieved 2008-10-20.
^ ^a ^b ^c ^d Rudy B, McBain CJ (September 2001). "K_v3 channels: voltage-gated K⁺ channels designed for high-frequency repetitive firing". Trends in Neurosciences. 24 (9): 517–26. doi:10.1016/S0166-2236(00)01892-0. PMID 11506885. S2CID 36100588.
^ ^a ^b ^c Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stühmer W, Wang X (December 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacological Reviews. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104. S2CID 219195192.
^ Lien CC, Jonas P (March 2003). "K_v3 potassium conductance is necessary and kinetically optimized for high-frequency action potential generation in hippocampal interneurons". Journal of Neuroscience. 23 (6): 2058–68. doi:10.1523/JNEUROSCI.23-06-02058.2003. PMC 6742035. PMID 12657664.
^ Dallas ML, Atkinson L, Milligan CJ, Morris NP, Lewis DI, Deuchars SA, Deuchars J (February 2005). "Localization and function of the Kv3.1b subunit in the rat medulla oblongata: focus on the nucleus tractus solitarii". The Journal of Physiology. 562 (Pt 3): 655–72. doi:10.1113/jphysiol.2004.073338. PMC 1665536. PMID 15528247.
^ Rudy B, Chow A, Lau D, Amarillo Y, Ozaita A, Saganich M, Moreno H, Nadal MS, Hernandez-Pineda R, Hernandez-Cruz A, Erisir A, Leonard C, Vega-Saenz de Miera E (April 1999). "Contributions of K_v3 channels to neuronal excitability". Annals of the New York Academy of Sciences. 868 (1): 304–43. Bibcode:1999NYASA.868..304R. doi:10.1111/j.1749-6632.1999.tb11295.x. PMID 10414303. S2CID 25289187.
^ Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE (2015). "A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy". Nature Genetics. 47 (1): 39–46. doi:10.1038/ng.3144. PMC 4281260. PMID 25401298.

External links

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

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺: Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻: Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺: Proton channel	HVCN1
M⁺: CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺: TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+ solutes): Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm: Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin