KCND1: Voltage-Gated Potassium Channel Kv4.1
Key regulator of neuronal excitability and cardiac repolarization
Gene Information Card
| Symbol | KCND1 |
|---|---|
| Full Name | Potassium voltage-gated channel subfamily D member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 3750 ncbi.nlm.nih.gov/gene/3750 |
| Ensembl ID | ENSG00000102057 |
| UniProt ID | Q9UK17 |
| OMIM ID | 300281 |
| HGNC ID | 6237 |
| Aliases | Kv4.1, KIAA1040 |
Description
KCND1 encodes the Kv4.1 voltage-gated potassium channel, a member of the Shal-related subfamily. This channel mediates A-type potassium currents that regulate neuronal firing frequency and cardiac action potential repolarization. It is predominantly expressed in brain and heart tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiac arrhythmia | Altered Kv4.1 expression affects repolarization reserve | ClinVar |
| Epilepsy | Dysregulation of A-type currents in neurons | OMIM |
| Intellectual disability | X-linked variants associated with neurodevelopmental phenotypes | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Heart (left ventricle) | 8.3 | 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 |
| HEK293 (embryonic kidney) | 1.8 | Low expression |
| H9c2 (cardiomyoblast) | 6.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112G>A (p.Gly38Arg) | Missense | <0.01% | Reduced current density |
| c.457C>T (p.Arg153Trp) | Missense | <0.01% | Altered inactivation kinetics |
| c.789delA (p.Lys263fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and missense variants reducing channel expression or current amplitude
Gain of Function (GOF)
Not reported in literature
Dominant Negative (DN)
Not reported in literature
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated potassium channel activity | • potassium ion transmembrane transport |
| • membrane depolarization | • regulation of action potential |
| • neuronal action potential |
Pathways
• Cardiac conduction
• Neuronal system (A-type potassium current)
Protein Summary
Kv4.1 is a 650-amino acid transmembrane protein with six membrane-spanning segments (S1-S6) and a pore-forming loop. It assembles as a tetramer to form functional A-type potassium channels. The protein is modulated by auxiliary subunits such as KChIPs and DPP6, which affect gating and surface expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCND1 Knockout HEK293 Cell Line | EDJ-KQ5037 | Human | 3750 | Details Get a Quote |
| KCND1 Knockout HCT 116 Cell Line | EDJ-KQ26724 | Human | 3750 | Details Get a Quote |
| KCND1 Knockout HeLa Cell Line | EDJ-KQ53704 | Human | 3750 | Details Get a Quote |
| KCND1 Knockout A-549 Cell Line | EDJ-KQ62182 | Human | 3750 | Details Get a Quote |
