Cacna1a Gene Summary [Mouse]
Enables high voltage-gated calcium channel activity and voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels. Acts upstream of or within several processes, including G protein-coupled receptor signaling pathway; chemical synaptic transmission; and nervous system development. Located in dendrite and neuronal cell body. Part of voltage-gated calcium channel complex. Is active in glutamatergic synapse; postsynaptic membrane; and presynaptic active zone membrane. Is expressed in several structures, including central nervous system; dorsal root ganglion; heart; and trigeminal nerve. Used to study Lambert-Eaton myasthenic syndrome; brain disease (multiple); and episodic ataxia type 2. Human ortholog(s) of this gene implicated in brain disease (multiple) and episodic ataxia type 2. Orthologous to human CACNA1A (calcium voltage-gated channel subunit alpha1 A). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Cacna1a |
| Official Name | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit [Source:MGI Symbol;Acc:MGI:109482] |
| Ensembl ID | ENSMUSG00000034656 |
| Bio databases IDs | |
| Aliases | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit |
| Synonyms | Alpha1 2.1, alpha1A, APCA, BccA1, BI, Caca1a, Cach4, CACN3, CACNA1A RBA, CACNL1A4, calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, calcium channel, voltage-dependent, P/Q type, α 1A subunit, calcium voltage-gated channel subunit alpha1 A, CAV2.1, Ccha1a, DEE42, EA2, EIEE42, FHM, HPCA, la, LOC688360, MHP, MHP1, nmf352, rbA-1, rkr, SCA6, smrl, tg, Vdcc α 1a, α-1a calcium channel subunit |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Cacna1a often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Voltage-dependent L-type calcium channel, IQ-associated
- intracellular loop
- Ion transport protein
- calmodulin binding
- high voltage-gated calcium channel
- Proline-rich protein
- protein binding
- ion channel
- syntaxin binding
- voltage-gated calcium channel
- Voltage gated calcium channel IQ domain
- ankyrin binding domain
- calretinin binding domain
- cytoplasmic domain
- IQ-like motif
- polyglutamine repeat
- intracellular linker
- Polycystin cation channel
- DII/III loop domain
Pathways
Biological processes and signaling networks where the Cacna1a gene in mouse plays a role, providing insight into its function and relevance in health or disease.
- Amyotrophic Lateral Sclerosis Signaling
- Androgen Signaling
- Calcium Signaling
- Cardiac Hypertrophy Signaling
- Cardiac β-adrenergic Signaling
- CCR5 Signaling in Macrophages
- CDK5 Signaling
- Cellular Effects of Sildenafil (Viagra)
- Circadian Rhythm Signaling
- Corticotropin Releasing Hormone Signaling
- CREB Signaling in Neurons
- Dopamine-DARPP32 Feedback in cAMP Signaling
- Estrogen Receptor Signaling
- FcγRIIB Signaling in B Lymphocytes
- G Beta Gamma Signaling
- GABA Receptor Signaling
- GNRH Signaling
- GPCR-Mediated Nutrient Sensing in Enteroendocrine Cells
- Gustation Pathway
- Maturity Onset Diabetes of Young (MODY) Signaling
- Nitric Oxide Signaling in the Cardiovascular System
- nNOS Signaling in Skeletal Muscle Cells
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- endometriosis
- cancer
- HIV infection
- obesity
- episodic ataxia type 2
- chronic postoperative pain
- familial hemiplegic migraine type 1 with progressive cerebellar ataxia
- early infantile epileptic encephalopathy 42
- diabetes mellitus
- childhood epilepsy
phenotypes
- preweaning lethality incomplete penetrance
- Purkinje cell degeneration
- abnormal CNS synaptic transmission
- abnormal PNS synaptic transmission
- abnormal Purkinje cell dendrite morphology
- abnormal Purkinje cell innervation
- abnormal Purkinje cell morphology
- abnormal action potential
- abnormal axon morphology
- abnormal brain morphology
- abnormal brain wave pattern
- abnormal brainstem morphology
- abnormal cerebellar molecular layer
- abnormal cerebellum external granule cell layer morphology
- abnormal cerebellum morphology
- abnormal channel response
- abnormal excitatory postsynaptic currents
- abnormal excitatory postsynaptic potential
- abnormal gait
- abnormal glucose homeostasis
- abnormal inhibitory postsynaptic currents
- abnormal locomotor behavior
- abnormal locomotor coordination
- abnormal maternal nurturing
- abnormal metabolism
- abnormal miniature endplate potential
- abnormal miniature excitatory postsynaptic currents
- abnormal motor capabilities/coordination/movement
- abnormal motor coordination/ balance
- abnormal muscle electrophysiology
- abnormal nerve fiber response
- abnormal nervous system electrophysiology
- abnormal nervous system morphology
- abnormal nervous system physiology
- abnormal neuron morphology
- abnormal nursing
- abnormal paired-pulse inhibition
- abnormal physiological response to xenobiotic
- abnormal postnatal growth/weight/body size
- abnormal posture
- abnormal response/metabolism to endogenous compounds
- abnormal somatosensory cortex physiology
- abnormal spike wave discharge
- abnormal spleen red pulp morphology
- abnormal survival
- abnormal synapse morphology
- abnormal synaptic acetylcholine release
- abnormal synaptic transmission
- absence seizures
- ataxia
- cerebellum atrophy
- cerebellum hypoplasia
- circling
- clonic seizures
- decreased body size
- decreased body weight
- decreased bone marrow cell number
- decreased choline O-acetyltransferase activity
- decreased excitatory postsynaptic current amplitude
- decreased glutamic acid level
- decreased grip strength
- decreased litter size
- decreased nerve fiber response intensity
- decreased survivor rate
- decreased thermal nociceptive threshold
- decreased vertical activity
- disheveled coat
- dystonia
- enhanced behavioral response to xenobiotic
- enhanced paired-pulse facilitation
- hypoactivity
- hyporesponsive to tactile stimuli
- impaired balance
- impaired coordination
- impaired limb coordination
- impaired righting response
- impaired swimming
- increased apoptosis
- increased brain tyrosine 3-monooxygenase activity
- increased cerebellar granule cell number
- increased cerebral infarction size
- increased excitatory postsynaptic current amplitude
- increased glycine level
- increased noradrenaline level
- increased sensitivity to induced morbidity/mortality
- increased sensitivity to xenobiotic induced morbidity/mortality
- increased susceptibility to ischemic brain injury
- increased susceptibility to pharmacologically induced seizures
- increased taurine level
- infertility
- lethality at weaning complete penetrance
- limb grasping
- muscle spasm
- muscle weakness
- neonatal lethality incomplete penetrance
- no abnormal phenotype detected
- paralysis
- perinatal lethality incomplete penetrance
- postnatal lethality complete penetrance
- premature death
- preweaning lethality complete penetrance
- reduced female fertility
- reduced fertility
- reduced male fertility
- respiratory failure
- seizures
- short stride length
- small cerebellum
- sporadic seizures
- thin cerebellar molecular layer
- thymus atrophy
- tremors
- weakness
role in cell
- cell death
- depolarization
- expression in
- apoptosis
- formation
- loss
- quantity
- transmembrane potential
- binding
- degeneration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- glutaminergic synapse
- Cytoplasm
- cell surface
- postsynaptic region
- cellular membrane
- Nucleus
- apical cell surfaces
- intramembrane particles
- presynaptic membrane
- postsynaptic membrane
- synaptic vesicles
- neuromuscular junctions
- nerve ending
- synaptosomes
- cellular protrusions
- perikaryon
- dendrites
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cacna1a gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- calcium ion transmembrane transport
- regulation of synaptic transmission
- synaptic transmission
- elevation of cytosolic calcium ion concentration
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- membrane
- voltage-gated calcium channel complex
- neuronal cell body
- synapse
- cell projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- high voltage-gated calcium channel activity
- syntaxin binding
- metal ion binding
- voltage-gated calcium channel activity
- beta-amyloid binding