Identity
HGNC
LOCATION
12p13.32
LOCUSID
ALIAS
AEMK,EA1,HBK1,HUK1,KV1.1,MBK1,MK1,RBK1
FUSION GENES
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: 3736
MIM: 176260
HGNC: 6218
Ensembl: ENSG00000111262
Variants:
dbSNP: 3736
ClinVar: 3736
TCGA: ENSG00000111262
COSMIC: KCNA1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000111262 | ENST00000382545 | Q09470 |
| ENSG00000111262 | ENST00000639306 | A0A1W2PRI2 |
| ENSG00000111262 | ENST00000639680 | A0A1W2PQM4 |
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 |
|---|---|---|---|
| 31586945 | 2020 | Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia. | 24 |
| 32217768 | 2020 | Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine. | 12 |
| 32316562 | 2020 | Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity. | 44 |
| 32705822 | 2020 | Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders. | 12 |
| 33059680 | 2020 | The mono-ADP-ribosyltransferase ARTD10 regulates the voltage-gated K(+) channel Kv1.1 through protein kinase C delta. | 5 |
| 33066705 | 2020 | A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel. | 3 |
| 33078631 | 2020 | Hypermethylated promoters of genes UNC5D and KCNA1 as potential novel diagnostic biomarkers in colorectal cancer. | 11 |
| 31586945 | 2020 | Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia. | 24 |
| 32217768 | 2020 | Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine. | 12 |
| 32316562 | 2020 | Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity. | 44 |
| 32705822 | 2020 | Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders. | 12 |
| 33059680 | 2020 | The mono-ADP-ribosyltransferase ARTD10 regulates the voltage-gated K(+) channel Kv1.1 through protein kinase C delta. | 5 |
| 33066705 | 2020 | A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel. | 3 |
| 33078631 | 2020 | Hypermethylated promoters of genes UNC5D and KCNA1 as potential novel diagnostic biomarkers in colorectal cancer. | 11 |
| 31250689 | 2019 | Kv1.1 channel subunits in the control of neurocardiac function. | 11 |
Citation
Dessen P
KCNA1 (potassium voltage-gated channel subfamily A member 1)
Atlas Genet Cytogenet Oncol Haematol. 2008-07-01
Online version: http://atlasgeneticsoncology.org/gene/50218/kcna1
