KCNIP1
Potassium Voltage-Gated Channel Interacting Protein 1
Gene Information Card
| Symbol | KCNIP1 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Interacting Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.1 |
| NCBI Gene ID | 30820 ncbi.nlm.nih.gov/gene/30820 |
| Ensembl ID | ENSG00000182154 |
| UniProt ID | Q9NZI2 |
| OMIM ID | 604664 |
| HGNC ID | 15519 |
| Aliases | KChIP1, VABP, DKFZp566F0947 |
Description
KCNIP1 (potassium voltage-gated channel interacting protein 1) is a member of the KChIP family of calcium-binding proteins. It interacts with the N-terminus of Kv4 alpha subunits, modulating their surface expression, gating kinetics, and inactivation properties. KCNIP1 is predominantly expressed in the brain and heart, playing a critical role in regulating neuronal excitability and cardiac repolarization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with intellectual disability and seizures | Loss of KCNIP1 function disrupts Kv4 channel modulation, impairing neuronal firing patterns | ClinVar, OMIM |
| Epilepsy | Altered A-type potassium currents due to KCNIP1 variants increase neuronal hyperexcitability | ClinVar, PubMed |
| Cardiac arrhythmia | Dysregulation of Kv4-mediated transient outward current (Ito) in cardiomyocytes | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 6.8 | Medium |
| Skeletal muscle | 2.1 | Low |
| Lung | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HEK293 | 0.8 | Low expression |
| H9c2 (cardiomyocyte) | 7.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.256C>T (p.Arg86Trp) | Missense | <0.01% | Reduced calcium binding and Kv4 modulation |
| c.403G>A (p.Glu135Lys) | Missense | <0.01% | Impaired channel trafficking |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg86Trp) reduce calcium affinity and disrupt Kv4 channel modulation, leading to loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
p.Glu135Lys may exert dominant-negative effects by sequestering wild-type KCNIP1.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • voltage-gated potassium channel activity |
| • protein homodimerization activity | • regulation of ion transmembrane transport |
| • neuronal action potential |
Pathways
• Kv4-mediated potassium channel regulation
• Cardiac conduction
• Neuronal system
Protein Summary
KCNIP1 (KChIP1) is a 216-amino acid calcium-binding protein with four EF-hand domains. It forms heteromultimeric complexes with Kv4.2 and Kv4.3 subunits, enhancing channel surface expression and accelerating inactivation. The protein is localized to the plasma membrane and endoplasmic reticulum, and its expression is enriched in brain regions such as the hippocampus and cortex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNIP1 Knockout HEK293 Cell Line | EDJ-KQ9182 | Human | 30820 | Details Get a Quote |
| KCNIP1 Knockout HeLa Cell Line | EDJ-KQ56153 | Human | 30820 | Details Get a Quote |
| KCNIP1 Knockout A-549 Cell Line | EDJ-KQ64643 | Human | 30820 | Details Get a Quote |
| KCNIP1 Knockout HCT 116 Cell Line | EDJ-KQ73090 | Human | 30820 | Details Get a Quote |
