CACNA1S Gene Summary
This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CACNA1S |
| Official Name | calcium voltage-gated channel subunit alpha1 S [Source:HGNC Symbol;Acc:HGNC:1397] |
| Ensembl ID | ENSG00000081248 |
| Bio databases IDs | |
| Aliases | calcium voltage-gated channel subunit alpha1 S |
| 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 | Human, Homo sapiens |
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 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 plays a role, providing insight into its function and relevance in health or disease.
- Amyotrophic Lateral Sclerosis Signaling
- Androgen Signaling
- Calcium Signaling
- Cardiac β-adrenergic Signaling
- CCR5 Signaling in Macrophages
- Cellular Effects of Sildenafil (Viagra)
- Circadian Rhythm Signaling
- Corticotropin Releasing Hormone Signaling
- Dopamine-DARPP32 Feedback in cAMP 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
- Netrin Signaling
- Nitric Oxide Signaling in the Cardiovascular System
- nNOS Signaling in Skeletal Muscle Cells
- PKCθ Signaling in T Lymphocytes
- Type II Diabetes Mellitus Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infection
- COVID-19
- mania
- depressive disorder
- hypertension
- essential hypertension
- dementia
- susceptibility to thyrotoxic periodic paralysis type 1
- angina pectoris
- vasospastic angina pectoris
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 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