KCNT1
Potassium Sodium-Activated Channel Subfamily T Member 1
Gene Information Card
| Symbol | KCNT1 |
|---|---|
| Full Name | Potassium Sodium-Activated Channel Subfamily T Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 57582 ncbi.nlm.nih.gov/gene/57582 |
| Ensembl ID | ENSG00000107147 |
| UniProt ID | Q5JUK3 |
| OMIM ID | 608167 |
| HGNC ID | 18865 |
| Aliases | KNa1.1, KCa4.1, ENaC, SLACK, bA100C15.2 |
Description
The KCNT1 gene encodes a sodium-activated potassium channel (KNa1.1) that is widely expressed in neurons and cardiac tissue. It plays a critical role in regulating neuronal excitability and action potential repolarization. Mutations in KCNT1 are associated with severe early-onset epileptic encephalopathies, including epilepsy of infancy with migrating focal seizures (EIMFS) and autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy of infancy with migrating focal seizures (EIMFS) | Gain-of-function mutations increase channel activity, leading to neuronal hyperexcitability | ClinVar, OMIM |
| Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) | Gain-of-function mutations alter channel gating and enhance potassium conductance | ClinVar, OMIM |
| Leukoencephalopathy with calcifications and cysts (LCC) | Loss-of-function mutations reduce channel expression or activity | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 6.8 | Medium |
| Kidney | 3.2 | Low |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.3 | Neuronal model |
| HEK293 | 2.1 | Low endogenous expression |
| U-87 MG | 4.5 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.862C>T (p.Arg288Trp) | Missense | Rare | Gain-of-function; associated with EIMFS |
| c.1283G>A (p.Arg428His) | Missense | Rare | Gain-of-function; associated with ADNFLE |
| c.2771C>T (p.Pro924Leu) | Missense | Rare | Loss-of-function; associated with LCC |
Mutation functional classification
Loss of Function (LOF)
Reduced channel expression or conductance; linked to leukoencephalopathy with calcifications and cysts.
Gain of Function (GOF)
Increased channel activity due to altered gating; linked to EIMFS and ADNFLE.
Dominant Negative (DN)
Not well documented for KCNT1.
View complete mutation data：
Gene Ontology (GO)
| • sodium-activated potassium channel activity | • voltage-gated potassium channel complex |
| • regulation of membrane potential | • neuronal action potential |
Pathways
• Potassium channels
• Neuronal system
Protein Summary
The KCNT1 protein (KNa1.1) is a 1,235-amino acid subunit that forms a homotetrameric sodium-activated potassium channel. It contains six transmembrane domains (S1–S6) with a pore loop between S5 and S6, and a large C-terminal domain that binds sodium ions. The channel is activated by intracellular sodium and contributes to the slow afterhyperpolarization (sAHP) in neurons, limiting repetitive firing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNT1 Knockout HEK293 Cell Line | EDJ-KQ13899 | Human | 57582 | Details Get a Quote |
| KCNT1 Knockout HeLa Cell Line | EDJ-KQ56875 | Human | 57582 | Details Get a Quote |
| KCNT1 Knockout A-549 Cell Line | EDJ-KQ65388 | Human | 57582 | Details Get a Quote |
| KCNT1 Knockout HCT 116 Cell Line | EDJ-KQ73825 | Human | 57582 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
