KCNG1: Potassium Voltage-Gated Channel Modifier Subfamily G Member 1
A regulatory subunit of voltage-gated potassium channels involved in neuronal and cardiac excitability.
Gene Information Card
| Symbol | KCNG1 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Modifier Subfamily G Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 3755 ncbi.nlm.nih.gov/gene/3755 |
| Ensembl ID | ENSG00000101210 |
| UniProt ID | Q9UIX4 |
| OMIM ID | 603788 |
| HGNC ID | 6248 |
| Aliases | Kv6.1, KCNG, K13 |
Description
KCNG1 encodes a voltage-gated potassium channel subunit (Kv6.1) that does not form functional homotetramers but modulates the gating and expression of other Kv channel subunits, particularly Kv2.1. It is primarily expressed in brain and heart, where it contributes to the regulation of neuronal excitability and cardiac repolarization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, idiopathic generalized | Altered neuronal potassium conductance due to KCNG1 variants may disrupt action potential repolarization | ClinVar; PMID: 25262649 |
| Cardiac arrhythmia | Modulation of Kv2.1 channels by KCNG1 affects cardiac repolarization reserve | UniProt; PMID: 10692449 |
| Seizures, early-onset | Loss-of-function variants in KCNG1 associated with epileptic encephalopathy | ClinVar; PMID: 29264392 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.3 | Medium |
| Heart (left ventricle) | 8.7 | Low |
| Skeletal muscle | 2.1 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HEK 293 (embryonic kidney) | 1.8 | Low expression |
| H9c2 (cardiomyoblast) | 9.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348Cys) | Missense | <0.01% | Reduced current amplitude; loss-of-function |
| c.137G>A (p.Gly46Asp) | Missense | <0.01% | Altered voltage dependence; gain-of-function |
| c.1660_1661del (p.Leu554fs) | Frameshift | <0.01% | Premature truncation; loss-of-function |
Mutation functional classification
Loss of Function (LOF)
p.Arg348Cys and p.Leu554fs reduce or abolish potassium current, linked to epilepsy.
Gain of Function (GOF)
p.Gly46Asp shifts activation to more negative voltages, potentially causing hyperexcitability.
Dominant Negative (DN)
Not reported for KCNG1.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity (GO:0005249) | • potassium ion transport (GO:0006813) |
| • integral component of membrane (GO:0016021) | • protein homooligomerization (GO:0051260) |
| • voltage-gated potassium channel complex (GO:0086008) |
Pathways
• KEGG hsa04010: MAPK signaling pathway
• Reactome R-HSA-1296072: Voltage gated potassium channels
• Reactome R-HSA-5576892: Cardiac conduction
Protein Summary
The KCNG1 protein (Kv6.1) is a 530-amino acid voltage-gated potassium channel subunit with six transmembrane domains. It does not form functional channels alone but co-assembles with Kv2.1 to create heterotetramers with altered gating properties. Expressed in brain and heart, it modulates neuronal firing and cardiac repolarization. Mutations are associated with epilepsy and arrhythmia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNG1 Knockout HEK293 Cell Line | EDJ-KQ5026 | Human | 3755 | Details Get a Quote |
| KCNG1 Knockout A-549 Cell Line | EDJ-KQ27937 | Human | 3755 | Details Get a Quote |
| KCNG1 Knockout HCT 116 Cell Line | EDJ-KQ27938 | Human | 3755 | Details Get a Quote |
| KCNG1 Knockout HeLa Cell Line | EDJ-KQ27939 | Human | 3755 | Details Get a Quote |
