Cacna1d Gene Summary [Mouse]
This gene encodes a pore-forming subunit of the L-type, voltage-activated calcium channel family. These channels have been found to play a role in heart and smooth muscle contraction and in the transmission of auditory information. Homozygous knockout mice for this gene exhibit deafness and heart defects. These channels have also been linked to mitochondrial oxidative stress in a mouse model of Parkinson's disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
Details
| Type | Retained Intron |
| Official Symbol | Cacna1d |
| Official Name | calcium channel, voltage-dependent, L type, alpha 1D subunit [Source:MGI Symbol;Acc:MGI:88293] |
| Ensembl ID | ENSMUSG00000015968 |
| Bio databases IDs | |
| Aliases | calcium channel, voltage-dependent, L type, alpha 1D subunit |
| Synonyms | 8430418G19Rik, CACH3, CACN4, CACNL1A2, calcium channel, voltage-dependent, L type, alpha 1D subunit, calcium channel, voltage-dependent, L type, α 1D subunit, calcium voltage-gated channel subunit alpha1 D, Cav1.3, Cav1.3 alpha1, Cchl1a, CCHL1A2, D-LTCC, Ltcc cav1.3, L-type calcium channedl α 1d subunit, L type VOLTAGE DEPENDENT CALCIUM CHANNEL alpha 1.3, L type VOLTAGE DEPENDENT CALCIUM CHANNEL α 1.3, PASNA, SANDD, VDCC alpha 1D, VDCC α 1D |
| 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 Cacna1d 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
- synprint domain
- Ion transport protein
- calcium channel
- high voltage-gated calcium channel
- actinin binding
- protein binding
- Voltage-gated calcium channel subunit alpha, C-term
- ion channel
- PDZ-domain binding
- voltage-gated calcium channel
- Voltage gated calcium channel IQ domain
- ankyrin binding
- cytoplasmic loop
- Polycystin cation channel
Pathways
Biological processes and signaling networks where the Cacna1d 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
- GABBR2
- nisoldipine
- isradipine
- nicardipine
- amlodipine
- nitrendipine
- felodipine
- bepridil
- nifedipine
- verapamil
disease
- adenoma formation
- heart failure
- chronic kidney disease
- atrial fibrillation
- ischemic cardiomyopathy
- non-insulin-dependent diabetes mellitus
- dementia
- disorder of coronary artery
- acute coronary syndrome
- unstable angina
phenotypes
- abnormal action potential
- abnormal calcium ion homeostasis
- abnormal cochlear IHC afferent innervation pattern
- abnormal cochlear IHC efferent innervation pattern
- abnormal cochlear inner hair cell physiology
- abnormal cochlear nerve morphology
- abnormal cochlear outer hair cell physiology
- abnormal distortion product otoacoustic emission
- abnormal heart rate
- abnormal inner hair cell synaptic ribbon morphology
- abnormal myocardial fiber physiology
- abnormal pancreatic beta cell differentiation
- abnormal pancreatic beta cell physiology
- abnormal pancreatic islet morphology
- abnormal sinoatrial node conduction
- abnormal sinus arrhythmia
- absent active-zone-anchored inner hair cell synaptic ribbon
- absent distortion product otoacoustic emissions
- absent outer hair cell stereocilia
- absent pinna reflex
- atrial fibrillation
- atrioventricular block
- cochlear ganglion degeneration
- cochlear hair cell degeneration
- cochlear inner hair cell degeneration
- cochlear outer hair cell degeneration
- deafness
- decreased body weight
- decreased circulating insulin level
- decreased heart rate
- decreased insulin secretion
- decreased pancreatic beta cell mass
- decreased pancreatic beta cell number
- decreased pancreatic beta cell proliferation
- decreased pancreatic islet number
- heart block
- impaired glucose tolerance
- increased heart rate
- increased heart rate variability
- increased insulin sensitivity
- increased or absent threshold for auditory brainstem response
- increased pancreatic alpha cell number
- prolonged PR interval
- prolonged RR interval
- sensorineural hearing loss
- sinus bradycardia
role in cell
- proliferation
- migration
- activation in
- exocytosis by
- function
- differentiation
- abnormal morphology
- number
- degeneration
- disruption
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
- membrane fraction
- cell surface
- perinuclear region
- cellular membrane
- apical membrane
- presynaptic membrane
- somatic membrane
- postsynaptic membrane
- basolateral membrane
- neurofilaments
- nerve ending
- dendrite initial segments
- sarcolemma
- Z line
- perikaryon
- dendrites
- ribbon synapse
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cacna1d gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane depolarization involved in regulation of SA node cardiac muscle cell action potential
- regulation of cardiac muscle cell action potential involved in contraction
- calcium ion import
- membrane depolarization involved in regulation of cardiac muscle cell action potential
- regulation of atrial cardiomyocyte membrane repolarization
- positive regulation of calcium ion transport
- positive regulation of adenylate cyclase activity
- adenylate cyclase-modulating G-protein coupled receptor signaling pathway
- sensory perception of sound
- calcium ion transport
- calcium ion transmembrane transport
- regulation of heart rate by cardiac conduction
Cellular Component
Where in the cell the gene product is active
- Z disc
- voltage-gated calcium channel complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- high voltage-gated calcium channel activity
- voltage-gated calcium channel activity involved in regulation of cardiac muscle cell action potential
- ankyrin binding
- metal ion binding
- voltage-gated calcium channel activity involved in regulation of SA node cardiac muscle cell action potential
- calcium channel activity
- alpha-actinin binding
- voltage-gated calcium channel activity