KCNC1
Domain
The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
The N-terminal cytoplasmic T1 domain is involved but not required for Zn(2+)-mediated tetramerization.
Function
Voltage-gated potassium channel that opens in response to the voltage difference across the membrane and through which potassium ions pass in accordance with their electrochemical gradient (PubMed:25401298, PubMed:35840580). The mechanism is time-dependent and inactivation is slow (By similarity). Plays an important role in the rapid repolarization of fast-firing brain neurons (By similarity). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well (By similarity). Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons (By similarity).
Involvement in disease
Epilepsy, progressive myoclonic 7
EPM7
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM7 is an autosomal dominant form characterized by myoclonic epilepsy apparent in the first or second decades of life. Cognitive function may decline in some patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-glycosylated; contains sialylated glycans.
Sequence Similarities
Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.1/KCNC1 sub-subfamily.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Cell projection
- Axon
- Presynaptic cell membrane
- Localizes in parallel fiber membranes, distributed on the perisynaptic and extrasynaptic membranes away from the active zones.
Alternative names
Voltage-gated potassium channel KCNC1, NGK2, Potassium voltage-gated channel subfamily C member 1, Voltage-gated potassium channel subunit Kv3.1, Voltage-gated potassium channel subunit Kv4, KCNC1