CACNB1 Gene - Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1
Essential regulator of L-type calcium channel function and cardiac physiology
Gene Information Card
| Symbol | CACNB1 |
|---|---|
| Full Name | Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.33 |
| NCBI Gene ID | 782 ncbi.nlm.nih.gov/gene/782 |
| Ensembl ID | ENSG00000067167 |
| UniProt ID | Q02641 |
| OMIM ID | 114207 |
| HGNC ID | 1401 |
| Aliases | CACNLB1, MGC41860, CACNB |
Description
CACNB1 encodes the beta-1 subunit of voltage-gated calcium channels. This auxiliary subunit modulates channel gating, trafficking, and current density. It is essential for proper cardiac and neuronal calcium signaling. Mutations in CACNB1 are associated with cardiac arrhythmias and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Timothy syndrome (variant) | Altered calcium channel inactivation due to CACNB1 mutations | ClinVar |
| Cardiac arrhythmia (long QT syndrome) | Disrupted beta subunit modulation of L-type calcium current | OMIM #114207 |
| Epilepsy (focal) | Impaired neuronal calcium channel function | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Brain | 28.7 | Medium |
| Skeletal muscle | 12.3 | Low |
| Lung | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 62.5 | High expression |
| SH-SY5Y (neuroblastoma) | 34.8 | Moderate expression |
| HEK293 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.121G>A (p.Glu41Lys) | Missense | Rare | Altered channel inactivation |
| c.457C>T (p.Arg153Trp) | Missense | Rare | Reduced calcium current density |
| c.832_834del (p.Lys278del) | In-frame deletion | Rare | Impaired beta subunit binding |
Mutation functional classification
Loss of Function (LOF)
Reduced calcium current density and channel trafficking defects
Gain of Function (GOF)
Prolonged channel opening leading to calcium overload
Dominant Negative (DN)
Mutant beta subunit disrupts wild-type channel function
View complete mutation data：
Gene Ontology (GO)
| • GO:0005245 - voltage-gated calcium channel activity | • GO:0005886 - plasma membrane |
| • GO:0006816 - calcium ion transport | • GO:0055119 - regulation of cardiac muscle contraction |
Pathways
• L-type calcium channel pathway (Reactome R-HSA-5576892)
• Cardiac conduction (KEGG hsa04260)
• Calcium signaling pathway (KEGG hsa04020)
Protein Summary
The CACNB1 protein (beta-1 subunit) is a cytoplasmic auxiliary subunit of voltage-gated calcium channels. It contains a conserved SH3 domain and a guanylate kinase-like domain. It regulates channel trafficking to the plasma membrane, modulates voltage-dependent activation and inactivation kinetics, and enhances calcium current amplitude. It is highly expressed in heart and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACNB1 Knockout HEK293 Cell Line | EDJ-KQ3427 | Human | 782 | Details Get a Quote |
| CACNB1 Knockout A-549 Cell Line | EDJ-KQ25148 | Human | 782 | Details Get a Quote |
| CACNB1 Knockout HCT 116 Cell Line | EDJ-KQ25149 | Human | 782 | Details Get a Quote |
| CACNB1 Knockout HeLa Cell Line | EDJ-KQ25150 | Human | 782 | Details Get a Quote |
| CACNB1 Knockout HAP1 Cell Line | EDC08256 | Human | 782 | Details Get a Quote |
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