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HighlightsIntroduction 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
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.
The study indicates that a loss-of-function variant c.1015C>T in the KCNC1 gene leads to intellectual disability without seizure and epilepsy.
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.
The study reports a de novo heterozygous mutation (c.959G>A, p.Arg320His) in the KCNC1 gene that causes myoclonus epilepsy and ataxia.
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
To obtain the soluble and functional target protein, the versatile Magic™ membrane protein production platform in Creative Biolabs enables many flexible options, from which you can always find a better match for your particular project. Aided by our versatile Magic™ anti-membrane protein antibody discovery platform, we also provide customized anti-KCNC1 antibody development services.
As a forward-looking research institute as well as a leading custom service provider in the field of membrane protein, Creative Biolabs has won good reputation among our worldwide customers for successfully accomplishing numerous challenging projects including generation of many functional membrane proteins. Please feel free to contact us for more information.
Reference
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