Cacna1s Gene Summary [Mouse]
Enables voltage-gated calcium channel activity. Acts upstream of or within several processes, including extraocular skeletal muscle development; myotube differentiation; and skeletal muscle adaptation. Located in T-tubule and sarcoplasmic reticulum. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and hindlimb musculature. Used to study hypokalemic periodic paralysis. Human ortholog(s) of this gene implicated in congenital myopathy 18; hypokalemic periodic paralysis; and malignant hyperthermia. Orthologous to human CACNA1S (calcium voltage-gated channel subunit alpha1 S). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Cacna1s |
| Official Name | calcium channel, voltage-dependent, L type, alpha 1S subunit [Source:MGI Symbol;Acc:MGI:88294] |
| Ensembl ID | ENSMUSG00000026407 |
| Bio databases IDs | |
| Aliases | calcium channel, voltage-dependent, L type, alpha 1S subunit |
| Synonyms | alpha 1 subunit of DHPR, Cach1, CACNL1A3, calcium channel, voltage-dependent, L type, alpha 1S subunit, calcium channel, voltage-dependent, L type, α 1S subunit, calcium voltage-gated channel subunit alpha1 S, Cav1.1, CCHL1A3, CMYO18, CMYP18, Dhpr, DHPR alpha 1.1, DHPR alpha1s, DHPRM, DHPR α 1.1, fmd, HOKPP, HOKPP1, hypoPP, mdg, MHS5, RGD1565743, sj, TTPP1, α 1 subunit of DHPR |
| 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 Cacna1s 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-gated calcium channel
- Voltage-dependent L-type calcium channel, IQ-associated
- Voltage gated calcium channel IQ domain
- Ion transport protein
- binding protein
- high voltage-gated calcium channel
- protein binding
- Voltage-gated calcium channel subunit alpha, C-term
- beta-interaction domain
- ion channel
- Polycystin cation channel
Pathways
Biological processes and signaling networks where the Cacna1s 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
- 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
- Mitochondrial Dysfunction
- 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.
binds
- NHERF4
- TNKS2
- CREB
- isradipine
- nifedipine
- nisoldipine
- nimodipine
- felodipine
- MEM-1003
- nitrendipine
disease
- infection
- COVID-19
- mania
- depressive disorder
- hypertension
- essential hypertension
- dementia
- susceptibility to thyrotoxic periodic paralysis type 1
- angina pectoris
- vasospastic angina pectoris
phenotypes
- abnormal auditory brainstem response
- abnormal embryo size
- abnormal facial morphology
- abnormal placenta vasculature
- preweaning lethality complete penetrance
- respiratory system phenotype
- abnormal Z line morphology
- abnormal axial skeleton morphology
- abnormal calcium ion homeostasis
- abnormal cartilage morphology
- abnormal cervical vertebrae morphology
- abnormal diaphragm morphology
- abnormal dorsal root ganglion morphology
- abnormal enzyme/coenzyme activity
- abnormal fetal size
- abnormal innervation pattern to muscle
- abnormal joint morphology
- abnormal mandible morphology
- abnormal mitochondrial physiology
- abnormal mitochondrion morphology
- abnormal muscle contractility
- abnormal muscle development
- abnormal muscle electrophysiology
- abnormal muscle fiber morphology
- abnormal muscle morphology
- abnormal muscle physiology
- abnormal phrenic nerve morphology
- abnormal rib morphology
- abnormal sarcomere morphology
- abnormal skeletal muscle fiber morphology
- abnormal skeletal muscle fiber type ratio
- abnormal spinal cord ventral horn morphology
- abnormal spine curvature
- abnormal sternebra morphology
- abnormal sternum morphology
- abnormal thoracic cavity morphology
- abnormal tongue morphology
- abnormal tongue muscle morphology
- abnormal vertebral column morphology
- absent deltoid tuberosity
- absent skeletal muscle
- centrally nucleated skeletal muscle fibers
- cervical vertebral fusion
- cleft secondary palate
- decreased aerobic running capacity
- decreased diameter of long bones
- decreased grip strength
- decreased mitochondria number
- decreased mitochondria size
- decreased skeletal muscle mass
- decreased tongue size
- dilated mitochondria
- dilated sarcoplasmic reticulum
- edema
- enlarged interparietal bone
- enlarged occipital bone
- extremity edema
- impaired muscle contractility
- impaired skeletal muscle contractility
- increased brown adipose tissue amount
- kyphosis
- limb grasping
- long ribs
- loose skin
- micrognathia
- muscle degeneration
- myopathy
- no spontaneous movement
- perinatal lethality complete penetrance
- short mandible
- short sternum
- shortened head
- small clavicle
- small mandibular condyloid process
- small mandibular coronoid process
- small scapula
- sternebra fusion
- thin diaphragm muscle
- thin ribs
- thoracic vertebral fusion
role in cell
- growth
- development
- fusion
- depletion in
- organization
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
- Cytoplasm
- postsynaptic region
- cellular membrane
- sarcoplasmic reticulum
- dendritic spine head
- I band
- sarcolemma
- transverse tubules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cacna1s gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- myoblast fusion
- extraocular skeletal muscle development
- endoplasmic reticulum organization
- striated muscle contraction
- positive regulation of muscle contraction
- skeletal muscle adaptation
- neuromuscular junction development
- skeletal system development
- skeletal muscle fiber development
- muscle contraction
- calcium ion transport
- calcium ion transmembrane transport
- release of sequestered calcium ion into cytosol
- cellular response to caffeine
Cellular Component
Where in the cell the gene product is active
- T-tubule
- cytoplasm
- sarcoplasmic reticulum
- voltage-gated calcium channel complex
- I band
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- calmodulin binding
- protein binding
- high voltage-gated calcium channel activity
- metal ion binding
- small molecule binding
- voltage-gated calcium channel activity