CACNA1I
Calcium Voltage-Gated Channel Subunit Alpha1 I
Gene Information Card
| Symbol | CACNA1I |
|---|---|
| Full Name | Calcium Voltage-Gated Channel Subunit Alpha1 I |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 8911 ncbi.nlm.nih.gov/gene/8911 |
| Ensembl ID | ENSG00000100346 |
| UniProt ID | Q9P0X4 |
| OMIM ID | 608230 |
| HGNC ID | 1394 |
| Aliases | Cav3.3, CACNA1I, NBR13, KIAA1120 |
Description
CACNA1I encodes the alpha-1I subunit of a voltage-dependent T-type calcium channel (Cav3.3). This channel mediates low-voltage-activated calcium influx, playing key roles in neuronal pacemaking, thalamocortical oscillations, and hormone secretion. Mutations in CACNA1I are associated with neurological disorders including epilepsy and autism spectrum disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epilepsy, idiopathic generalized | Loss-of-function variants reduce T-type calcium current, altering neuronal excitability | ClinVar, PMID: 25620205 |
| Autism spectrum disorder | Missense variants impair channel gating and expression | ClinVar, PMID: 27453576 |
| Schizophrenia | Rare variants may disrupt thalamic oscillations | ClinVar, PMID: 25056061 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 1.2 | Low |
| Testis | 0.8 | Low |
| Kidney | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.5 | Neuronal model |
| HEK293 | 0.2 | Low endogenous expression |
| SK-N-SH | 6.1 | Neuroblastoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.4567G>A (p.Gly1523Arg) | Missense | <0.01% | Loss of function, reduced current density |
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Altered voltage dependence |
| c.7890delC | Frameshift | Rare | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Reduced calcium current amplitude or altered gating properties.
Gain of Function (GOF)
Not well documented; some variants may increase channel activity.
Dominant Negative (DN)
Possible for certain missense variants that co-assemble with wild-type subunits.
View complete mutation data：
Gene Ontology (GO)
| • voltage-gated calcium channel activity | • calcium ion transport |
| • membrane depolarization | • neuronal action potential |
| • thalamus development |
Pathways
• T-type calcium channel pathway
• Cardiac conduction
• Neuronal system
Protein Summary
The Cav3.3 protein (UniProt Q9P0X4) is a 2,223-amino acid transmembrane protein forming the pore of T-type calcium channels. It contains four homologous domains (I-IV) each with six transmembrane segments. The channel activates at low voltages and mediates transient calcium currents important for pacemaking and burst firing in neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACNA1I Knockout HEK293 Cell Line | EDJ-KQ620 | Human | 8911 | Details Get a Quote |
| CACNA1I Knockout HeLa Cell Line | EDJ-KQ55033 | Human | 8911 | Details Get a Quote |
| CACNA1I Knockout A-549 Cell Line | EDJ-KQ63518 | Human | 8911 | Details Get a Quote |
| CACNA1I Knockout HCT 116 Cell Line | EDJ-KQ71985 | Human | 8911 | Details Get a Quote |
