KCNC1

Official Full Name

potassium voltage-gated channel subfamily C member 1

Organism

Homo sapiens

Gene ID

3746

Background

This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]

Synonyms

KV4; EPM7; NGK2; KV3.1

Cat.No.	Product Name	Price
CSC-RI0037	Human KCNC1 Stable Cell Line-CHO-K1	Inquiry
CSC-DC007932	Panoply™ Human KCNC1 Knockdown Stable Cell Line	Inquiry
CSC-SC007932	Panoply™ Human KCNC1 Over-expressing Stable Cell Line	Inquiry

Cat.No.	Product Name	Price
AD08388Z	Human KCNC1 adenoviral particles	Inquiry
LV15925L	human KCNC1 (NM_004976) lentivirus particles	Inquiry
LV15926L	human KCNC1 (NM_001112741) lentivirus particles	Inquiry

Cat.No.	Product Name	Price
SHH322831	shRNA set against Human KCNC1 (NM_004976.4)	Inquiry
SHH322835	shRNA set against Mouse KCNC1 (NM_008421.3)	Inquiry
SHH322839	shRNA set against Rat KCNC1 (NM_012856.1)	Inquiry
SHL188756	shRNA set against Rat Kcnc1(NM_012856.1)	Inquiry
SHL188774	shRNA set against Human KCNC1(NM_004976.4)	Inquiry
SHL188792	shRNA set against Mouse Kcnc1(NM_008421.3)	Inquiry

Cat.No.	Product Name	Price
CDCB195553	Rabbit KCNC1 ORF clone (XM_008275119.1)	Inquiry
CDFG019156	Mouse Kcnc1 cDNA Clone(NM_001112739.1)	Inquiry
CDFH009604	Human KCNC1 cDNA Clone(NM_001112741.1)	Inquiry
CDFR010712	Rat Kcnc1 cDNA Clone(NM_012856.1)	Inquiry
MiUTR1H-05100	KCNC1 miRNA 3'UTR clone	Inquiry
MiUTR1M-06207	KCNC1 miRNA 3'UTR clone	Inquiry
MiUTR1R-02795	KCNC1 miRNA 3'UTR clone	Inquiry
MiUTR3H-01795	KCNC1 miRNA 3'UTR clone	Inquiry
CDCL122829	Mouse KCNC1 ORF clone (NM_001112741.1)	Inquiry
CDCL122833	Mouse Kcnc1 ORF clone (NM_001112739.1)	Inquiry
CDCR245289	Mouse Kcnc1 ORF Clone(NM_008421.3)	Inquiry
CDCR377715	Rat Kcnc1 ORF Clone(NM_012856.1)	Inquiry
CDCS407632	Human KCNC1 ORF Clone (BC107129)	Inquiry

Detailed Information

Recent Research

Voltage-gated potassium (KCN) channels are a diverse group of channels and play a central role in neuronal excitability. They contribute to the determination of the resting membrane potential, shaping of action potentials, the modulation of transmitter release and pattern of action potential discharges, and the regulation of frequency. Channels formed by Shaw-like KCNC subunits activate rapidly at potentials positive to-10 mV.

KCNC1 encodes Kv3.1, which functions as a highly conserved potassium ion channel subunit of the Kv3 subfamily of voltage-gated tetrameric potassium ion channels, major determinants of high-frequency neuronal firing. Kv3.1 is expressed in cerebellar granule cells, the thalamic reticular nucleus, a subset of cells in cerebral cortex and hippocampus, and several brainstem nuclei involved in auditory signal processing. It appears that, with the exception of cerebellar granule cells, Kv3.1 channels are expressed in parvalbumin-containing, fast-spiking GABAergic neurons. Outside the central nervous system, Kv3.1 is expressed in skeletal muscle and in T-lymphocytes.

It has been reported that a recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy (PME). PME is one of the most destructive types of epilepsy. They are clinically and genetically heterogeneous, characterized by core features of action myoclonus, progressive neurological decline and tonic-clonic seizures. Most of the molecular characteristics of PMEs are inherited by autosomal recessive inheritance, with rare cases showing autosomal dominant or mitochondrial inheritance.

Computer simulations have suggested that the KCNC1 conductance improves postsynaptic temporal coding precisio by reducing the width of the action potential without compromising its amplitude. In the rat, alternative splicing of the KCNC1 gene gives rise to two proteins, KCNC1a and KCNC1b. Splicing varieties differ in their carboxyl termini. The in vivo expression of the two KCNC1 gene products in rat is temporally regulated during development such that KCNC1a is predominant in the embryonic and neonatal neurons, while levels of KCNC1b expression are up-regulated after postnatal day 10. In the chicken, a high threshold potassium current with kinetics similar to that of KCNC1 has been reported in developing neurons in vitro.

References:

Poirier K, et al. Loss of Function of KCNC1 is associated with intellectual disability without seizures. European Journal of Human Genetics, 2017, 25(5).
Muona M, et al. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nature Genetics, 2015, 47(1):39-46.

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