Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3746
MIM: 176258
HGNC: 6233
Ensembl: ENSG00000129159
Variants:
dbSNP: 3746
ClinVar: 3746
TCGA: ENSG00000129159
COSMIC: KCNC1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Neuronal System | REACTOME | R-HSA-112316 |
| Potassium Channels | REACTOME | R-HSA-1296071 |
| Voltage gated Potassium channels | REACTOME | R-HSA-1296072 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36419348 | 2023 | A KCNC1-related neurological disorder due to gain of Kv3.1 function. | 4 |
| 36419348 | 2023 | A KCNC1-related neurological disorder due to gain of Kv3.1 function. | 4 |
| 35840580 | 2022 | Cryo-EM structure of the human Kv3.1 channel reveals gating control by the cytoplasmic T1 domain. | 14 |
| 35840580 | 2022 | Cryo-EM structure of the human Kv3.1 channel reveals gating control by the cytoplasmic T1 domain. | 14 |
| 33349918 | 2021 | Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing. | 11 |
| 33735526 | 2021 | Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy. | 5 |
| 34105734 | 2021 | Methylation gene KCNC1 is associated with overall survival in patients with seminoma. | 3 |
| 34232791 | 2021 | A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation. | 3 |
| 34830172 | 2021 | Cross Pharmacological, Biochemical and Computational Studies of a Human Kv3.1b Inhibitor from Androctonus australis Venom. | 0 |
| 33349918 | 2021 | Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing. | 11 |
| 33735526 | 2021 | Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy. | 5 |
| 34105734 | 2021 | Methylation gene KCNC1 is associated with overall survival in patients with seminoma. | 3 |
| 34232791 | 2021 | A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation. | 3 |
| 34830172 | 2021 | Cross Pharmacological, Biochemical and Computational Studies of a Human Kv3.1b Inhibitor from Androctonus australis Venom. | 0 |
| 31732108 | 2020 | Mechanisms Underlying the Hyperexcitability of CA3 and Dentate Gyrus Hippocampal Neurons Derived From Patients With Bipolar Disorder. | 22 |
Citation
Dessen P
KCNC1 (potassium voltage-gated channel subfamily C member 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64766/kcnc1-(potassium-voltage-gated-channel-subfamily-c-member-1)
