KCNC1

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".

potassium voltage-gated channel subfamily C member 1

Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient (PubMed:25401298).
Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNC2, and possibly other family members as well. Contributes to fire sustained trains of very brief action potentials at high frequency in pallidal neurons.

Cellular response to xenobiotic stimulusIEA:Ensembl
Cerebellum developmentIEA:Ensembl
Globus pallidus developmentIEA:Ensembl
Positive regulation of voltage-gated potassium channel activityIEA:Ensembl
Potassium ion transmembrane transportISS:UniProtKB
Potassium ion transportManual Assertion Based On ExperimentTAS:ProtInc
Protein homooligomerizationIEA:InterPro
Protein tetramerizationManual Assertion Based On ExperimentIDA:UniProtKB
Response to amineIEA:Ensembl
Response to auditory stimulusIEA:Ensembl
Response to fibroblast growth factorIEA:Ensembl
Response to light intensityIEA:Ensembl
Response to nerve growth factorIEA:Ensembl
Response to potassium ionIEA:Ensembl
Response to toxic substanceIEA:Ensembl

Cell membrane; Cell projection, axon; Cell junction, synapse, presynaptic cell membrane. Localizes in parallel fiber membranes, distributed on the perisynaptic and extrasynaptic membranes away from the active zones.

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.

Cytoplasmic: 1-190
Helical: 191-209
Extracellular: 248-267
Helical: 268-276
Cytoplasmic: 277-295
Helical: 309-331
Extracellular: 332-344
Helical: 345-366
Helical: 415-436
Cytoplasmic: 437-511

N-glycosylated; contains sialylated glycans.