KCNAB1
Potassium Voltage-Gated Channel Subfamily A Regulatory Beta Subunit 1
Gene Information Card
| Symbol | KCNAB1 |
|---|---|
| Full Name | Potassium Voltage-Gated Channel Subfamily A Regulatory Beta Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q25.31 |
| NCBI Gene ID | 7881 ncbi.nlm.nih.gov/gene/7881 |
| Ensembl ID | ENSG00000169282 |
| UniProt ID | Q14722 |
| OMIM ID | 601141 |
| HGNC ID | 6228 |
| Aliases | AKR6A3, KCNA1B, Kvb1.1, hKvbeta1 |
Description
KCNAB1 encodes a member of the potassium channel beta subunit family, which modulates the inactivation kinetics and expression of voltage-gated potassium channels (Kv). The encoded protein is a cytoplasmic oxidoreductase that binds to the alpha subunit of Kv1 channels, accelerating inactivation. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Episodic ataxia type 1 (EA1) | Altered Kv1.1 channel inactivation due to KCNAB1 interaction with KCNA1; KCNAB1 variants may modify disease severity. | ClinVar, OMIM |
| Epilepsy | KCNAB1 variants associated with altered neuronal excitability and seizure susceptibility. | ClinVar, PubMed |
| Cardiac arrhythmia | KCNAB1 modulates cardiac Kv1.5 channels; variants may contribute to atrial fibrillation risk. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Skeletal muscle | 6.1 | Low |
| Kidney | 4.7 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 7.8 | Moderate expression |
| H9c2 (cardiomyoblast) | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Alters beta subunit binding to Kv1 alpha; reduced inactivation |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Impaired oxidoreductase activity; potential loss of function |
| c.789+1G>A | Splice donor | <0.01% | Exon skipping; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Splice site and missense variants that reduce protein expression or disrupt Kv1 channel modulation.
Gain of Function (GOF)
Not well documented; some missense variants may enhance inactivation.
Dominant Negative (DN)
Possible for variants that disrupt multimerization with wild-type beta subunits.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Voltage-gated potassium channels (Reactome: R-HSA-1296071)
• Neuronal System (Reactome: R-HSA-112316)
• Cardiac conduction (Reactome: R-HSA-5576891)
Protein Summary
KCNAB1 encodes the Kv beta 1 subunit, a cytoplasmic protein that associates with Kv1 alpha subunits. It contains an aldo-keto reductase domain and modulates channel inactivation by accelerating the N-type inactivation process. The protein is highly expressed in brain and heart, where it regulates neuronal excitability and cardiac repolarization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KCNAB1 Knockout HEK293 Cell Line | EDJ-KQ6140 | Human | 7881 | Details Get a Quote |
| KCNAB1 Knockout HeLa Cell Line | EDJ-KQ54802 | Human | 7881 | Details Get a Quote |
| KCNAB1 Knockout A-549 Cell Line | EDJ-KQ63293 | Human | 7881 | Details Get a Quote |
| KCNAB1 Knockout HCT 116 Cell Line | EDJ-KQ71761 | Human | 7881 | Details Get a Quote |
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