KCNN1: Potassium Calcium-Activated Channel Subfamily N Member 1
A key regulator of neuronal excitability and calcium signaling
Gene Information Card
| Symbol | KCNN1 |
|---|---|
| Full Name | Potassium Calcium-Activated Channel Subfamily N Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 3780 ncbi.nlm.nih.gov/gene/3780 |
| Ensembl ID | ENSG00000105679 |
| UniProt ID | Q92952 |
| OMIM ID | 602412 |
| HGNC ID | 6290 |
| Aliases | SK1, SKCa1, KCa2.1 |
Description
KCNN1 encodes a member of the calcium-activated potassium channel family, specifically the small conductance (SK) channel SK1. These channels are activated by intracellular calcium and play a critical role in regulating neuronal excitability, action potential firing, and neurotransmitter release. The protein forms homomeric or heteromeric complexes with other SK subunits and is widely expressed in the brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy | Altered SK channel function may disrupt neuronal firing patterns | ClinVar, literature |
| Schizophrenia | Genetic association studies implicate KCNN1 variants | OMIM, literature |
| Intellectual Disability | Rare variants in KCNN1 linked to neurodevelopmental phenotypes | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 3.2 | Low |
| Liver | 0.8 | Not detected |
| Kidney | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.9 | Neuronal model |
| HEK293 | 2.1 | Low expression |
| U-87 MG | 5.4 | Glioblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | <0.01% | Reduced channel activity |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Altered calcium sensitivity |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Arg358Trp reduce channel conductance.
Gain of Function (GOF)
Not well documented in KCNN1.
Dominant Negative (DN)
Heteromeric assembly with wild-type subunits may impair function.
View complete mutation data：
Gene Ontology (GO)
| • calcium-activated potassium channel activity | • voltage-gated potassium channel complex |
| • regulation of membrane potential | • neuronal action potential |
Pathways
• Calcium signaling pathway
• Potassium channels
Protein Summary
The SK1 protein (UniProt Q92952) is a 543-amino acid transmembrane protein with six membrane-spanning domains. It forms functional potassium channels that are activated by submicromolar intracellular calcium via calmodulin binding. SK1 channels contribute to the afterhyperpolarization (AHP) following action potentials, thereby modulating neuronal firing frequency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNN1 Knockout HEK293 Cell Line | EDJ-KQ5046 | Human | 3780 | Details Get a Quote |
| KCNN1 Knockout HeLa Cell Line | EDJ-KQ53723 | Human | 3780 | Details Get a Quote |
| KCNN1 Knockout A-549 Cell Line | EDJ-KQ62199 | Human | 3780 | Details Get a Quote |
| KCNN1 Knockout HCT 116 Cell Line | EDJ-KQ70688 | Human | 3780 | Details Get a Quote |
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