KCNC1 Membrane Protein Introduction

Introduction of KCNC1

KCNC1, also known as Kv3.1, is an integral membrane protein that belongs to the Kv3 subfamily of voltage-gated potassium channels. The Kv3 subfamily is composed of the subunits Kv3.1-3.4 that can be constructed as either homotetrameric potassium channels or heterotetrameric potassium channels. KCNC1 protein is encoded by the KCNC1 gene and has two transcript variants with the longer isoform and shorter isoform. It contains 6 transmembrane segments (S1-S6) with a voltage-sensor in S4.

Basic Information of KCNC1
Protein Name	Potassium voltage-gated channel subfamily C member 1
Gene Name	KCNC1
Aliases	Kv4, EPM7, NGK2, Kv3.1
Organism	Homo sapiens (Human)
UniProt ID	P48547
Transmembrane Times	6
Length (aa)	585
Sequence	MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHFDYDPRADEFFFDRHPGVFAHILNYYRTGKLHCPADVCGPLYEEELAFWGIDETDVEPCCWMTYRQHRDAEEALDSFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDSPDGRPGGFWRRWQPRIWALFEDPYSSRYARYVAFASLFFILVSITTFCLETHERFNPIVNKTEIENVRNGTQVRYYREAETEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPHHSTQSDTCPLAQEEILEINRADSKLNGEVAKAALANEDCPHIDQALTPDEGLPFTRSGTRERYGPCFLLSTGEYACPPGGGMRKDLCKESPVIAKYMPTEAVRVT

Function of KCNC1 Membrane Protein

KCNC1 is primarily expressed in the brain such as the cerebellum, globus pallidus, subthalamic nucleus, and substantia nigra and in retinal ganglion cells. It functions as a voltage-gated potassium channel that exerts an essential role in the rapid repolarization of fast-firing brain neurons. The channels can alter its opened or closed conformations in accordance with the voltage difference across the membrane thereby controlling potassium ions pass across the membrane. It has been shown that Kv3.1 conductance is required for the production of high-frequency action potential. And it may play an important role in the high-firing frequency of auditory and fast-spiking GABAergic interneurons. Furthermore, Kv3.1 also regulates the duration of action potential in presynaptic terminals. The dominant-negative mutations in KCNC1 have been shown an association with the progressive myoclonic childhood epilepsy in humans. And the mice with deficiency of Kv3.1/3.3 display the impaired thalamocortical oscillations and unstable slow-wave sleep.

Fig.1 Mutations (lightning bolts) in 13 unrelated cases hit the same DNA nucleotide in KCNC1 gene and disrupt the function of a potassium ion channel, which causes a severe form of epilepsy. (Muona, 2015)

Application of KCNC1 Membrane Protein in Literature

Oliver K.L., et al. Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K⁺ channel properties. Annals of Neurology. 2017, 81(5):677-689. PubMed ID: 28380698

The study shows that KCNC1 p.R320H mutation is associated with the syndrome of myoclonus epilepsy and ataxia and KCNC1 can be regarded as a potential therapeutic target for the syndrome.
Poirier K., et al. Loss of function of KCNC1 is associated with intellectual disability without seizures. European Journal of Human Genetics. 2017, 25(5):560-564. PubMed ID: 28145425

The study indicates that a loss-of-function variant c.1015C>T in the KCNC1 gene leads to intellectual disability without seizure and epilepsy.
Muona M., et al. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nature Genetics. 2015, 47(1):39-46. PubMed ID: 25401298

The findings show that a de novo mutation (Arg320His) in KCNC1 leads to a dominant-negative loss-of-function effect and results in progressive myoclonus epilepsy.
Nascimento F.A and Andrade D.M. Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. Epileptic Disorders. 2016, 18(s2):135-138. PubMed ID: 27629860

The study reports a de novo heterozygous mutation (c.959G>A, p.Arg320His) in the KCNC1 gene that causes myoclonus epilepsy and ataxia.
Labro A.J., et al. Kv3.1 uses a timely resurgent K⁺ current to secure action potential repolarization. Nature Communications. 2015, 6:10173. PubMed ID: 26673941

The study suggests that KCNC1 generates a resurgent current during repolarization to make sure the sufficient repolarizing energy to terminate each action potential.

KCNC1 Preparation Options

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Reference

Muona M, et al. (2015). A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nature Genetics. 47(1): 39-46.

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