CACNA1C Gene Summary [Human]
This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
Details
| Type | Protein Coding |
| Official Symbol | CACNA1C |
| Official Name | calcium voltage-gated channel subunit alpha1 C [Source:HGNC Symbol;Acc:HGNC:1390] |
| Ensembl ID | ENSG00000151067 |
| Bio databases IDs | |
| Aliases | calcium voltage-gated channel subunit alpha1 C |
| Synonyms | Alpha1c L-type VDCC, CAC1C, Cacba1c, CACBR, CACH2, CACN2, CACNA1C-IT2, CACNL1A1, calcium channel, voltage-dependent, L type, alpha 1C subunit, calcium channel, voltage-dependent, L type, α 1C subunit, calcium voltage-gated channel subunit alpha1 C, Cardiac vdcc alpha1, CaV1.2, Cav1.2 alpha1, CCHL1A1, class c l type calcium channel α 1 subunit, D930026N18Rik, dihydropyridine receptor alpha 1S, cardiac isoform, dihydropyridine receptor α 1S, cardiac isoform, LOC283439, LQT8, L-type CALCIUM CHANNEL alpha1C, L-type voltage dependent calcium channel a1, L-type VOLTAGE DEPENDENT CALCIUM CHANNEL alpha 1.2, L-type VOLTAGE DEPENDENT CALCIUM CHANNEL α 1.2, L-VDCC alpha1, MBC, MELC-CC, NEDHLSS, RATIVS302, TS, TS. LQT8, α 1c |
| Species | Human, Homo sapiens |
| 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 human CACNA1C 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
- EF-Hand
- intracellular loop
- synprint domain
- Ion transport protein
- calmodulin binding
- high voltage-gated calcium channel
- protein phosphatase binding
- actinin binding
- enzyme binding
- protein domain specific binding
- protein binding
- Voltage-gated calcium channel subunit alpha, C-term
- ion channel
- phosphorylation site
- voltage-gated calcium channel
- Voltage gated calcium channel IQ domain
- cytoplasmic loop
- IQ domain
- ion channel binding
- loop domain
- Polycystin cation channel
Pathways
Biological processes and signaling networks where the CACNA1C gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- liver cancer
- pain
- congestive heart failure
- hypertension
- biliary tract cancer
- diabetic nephropathy
- essential hypertension
- fibrosis
- coronary disease
- long-QT syndrome
role in cell
- expression in
- loss
- apoptosis
- number
- quantity
- density
- formation
- binding
- exocytosis by
- elevation in
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
- short arm of lens fiber cell
- caveolae fraction
- membrane fraction
- glutaminergic synapse
- intracellular compartment
- cell pole
- Cytoplasm
- cilia
- cell surface
- cell periphery
- intracellular space
- perinuclear region
- membrane surface
- cellular membrane
- Nucleus
- flagella
- apical membrane
- presynaptic membrane
- somatic membrane
- postsynaptic membrane
- caveolae
- basolateral membrane
- nucleoplasm
- sperm head
- neurofilaments
- neurites
- nerve ending
- dendrite initial segments
- sarcolemma
- Z line
- transverse tubules
- cellular protrusions
- perikaryon
- axons
- dendrites
- postsynaptic density
- dendritic shafts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CACNA1C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of cardiac muscle cell action potential involved in contraction
- membrane depolarization involved in regulation of cardiac muscle cell action potential
- membrane depolarization involved in regulation of AV node cardiac muscle cell action potential
- positive regulation of adenylate cyclase activity
- positive regulation of muscle contraction
- calcium ion transport into cytosol
- cardiac conduction
- elevation of cytosolic calcium ion concentration
- immune system development
- heart development
- camera-type eye development
- calcium ion transmembrane transport
- regulation of heart rate by cardiac conduction
- cell communication by electrical coupling involved in cardiac conduction
- regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
- embryonic forelimb morphogenesis
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- dendrite
- Z disc
- cytoplasm
- membrane
- voltage-gated calcium channel complex
- perikaryon
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- calmodulin binding
- protein binding
- voltage-gated calcium channel activity involved in regulation of AV node cardiac muscle cell action potential
- high voltage-gated calcium channel activity
- voltage-gated calcium channel activity involved in regulation of cardiac muscle cell action potential
- metal ion binding
- alpha-actinin binding
- voltage-gated calcium channel activity