KCNC1: Potassium Voltage-Gated Channel Subfamily C Member 1
A key gene encoding the Kv3.1 potassium channel, critical for high-frequency neuronal firing and implicated in epilepsy and ataxia.
Gene Information Card
| Symbol | KCNC1 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Subfamily C Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.1 |
| NCBI Gene ID | 3746 ncbi.nlm.nih.gov/gene/3746 |
| Ensembl ID | ENSG00000129159 |
| UniProt ID | P48547 |
| OMIM ID | 176258 |
| HGNC ID | 6233 |
| Aliases | Kv3.1, KSHIIIA, NGK2 |
Description
The KCNC1 gene encodes the Kv3.1 voltage-gated potassium channel, a member of the Shaw-related subfamily. This channel is characterized by rapid activation and deactivation kinetics, enabling neurons to fire action potentials at high frequencies. Kv3.1 is predominantly expressed in fast-spiking GABAergic interneurons and auditory brainstem nuclei. Mutations in KCNC1 are associated with progressive myoclonus epilepsy and spinocerebellar ataxia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Progressive Myoclonus Epilepsy (EPM7) | Missense mutations (e.g., p.Arg320His) reduce channel function, impairing high-frequency firing of inhibitory interneurons, leading to neuronal hyperexcitability and myoclonus. | ClinVar, OMIM #616187 |
| Spinocerebellar Ataxia Type 13 (SCA13) | Dominant-negative mutations alter channel gating, causing cerebellar Purkinje cell dysfunction and ataxia. | OMIM #605259, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.2 | High |
| Cerebellum | 35.1 | High |
| Cerebral Cortex | 22.5 | High |
| Testis | 6.3 | Medium |
| Heart | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.4 | Moderate expression |
| U-87 MG (glioblastoma) | 8.7 | Low expression |
| HEK 293 (embryonic kidney) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.959G>A (p.Arg320His) | Missense | Rare (founder in European populations) | Loss-of-function; reduced current density and altered voltage dependence |
| c.1262G>A (p.Arg421His) | Missense | Unknown | Dominant-negative; shifts activation to more depolarized potentials |
Mutation functional classification
Loss of Function (LOF)
p.Arg320His reduces channel conductance and alters gating, leading to haploinsufficiency in inhibitory neurons.
Gain of Function (GOF)
Not reported for KCNC1.
Dominant Negative (DN)
p.Arg421His co-assembles with wild-type subunits, impairing overall channel function.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity | • delayed rectifier potassium channel activity |
| • plasma membrane | • integral component of membrane |
| • potassium ion transmembrane transport | • action potential propagation |
| • neuronal action potential |
Pathways
• Voltage gated potassium channels
• Transmission across Chemical Synapses
• Potassium Channels
Protein Summary
The Kv3.1 protein (UniProt P48547) is a 585-amino acid voltage-gated potassium channel subunit. It forms tetrameric channels that mediate outward potassium currents, enabling rapid repolarization of action potentials. The channel is characterized by a conserved voltage-sensor domain (S1-S4) and a pore-forming loop (S5-S6). Kv3.1 is essential for high-frequency firing in fast-spiking interneurons and auditory neurons. Alternative splicing generates two isoforms (Kv3.1a and Kv3.1b) differing in the C-terminal domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNC1 Knockout HEK293 Cell Line | EDJ-KQ5036 | Human | 3746 | Details Get a Quote |
| KCNC1 Knockout HeLa Cell Line | EDJ-KQ53701 | Human | 3746 | Details Get a Quote |
| KCNC1 Knockout A-549 Cell Line | EDJ-KQ62179 | Human | 3746 | Details Get a Quote |
| KCNC1 Knockout HCT 116 Cell Line | EDJ-KQ70665 | Human | 3746 | Details Get a Quote |
| KCNC1 Knockout HAP1 Cell Line | EDC08179 | Human | 3746 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
