CACNA1D Gene Summary [Human]

Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

Details

Type
Protein Coding
Official Symbol
CACNA1D
Official Name
calcium voltage-gated channel subunit alpha1 D [Source:HGNC Symbol;Acc:HGNC:1391]
Ensembl ID
ENSG00000157388
Bio databases IDs NCBI: 776 Ensembl: ENSG00000157388
Aliases calcium voltage-gated channel subunit alpha1 D
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
Human, Homo sapiens
OrthologiesMouseRat

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 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

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
regulated by
  • lipopolysaccharide
  • sirolimus
  • SERPINA6
  • 3,5-dihydroxyphenylglycine
  • SYNJ1
  • nicotine
  • OTOF
  • 2,3,4,7,8-pentachlorodibenzofuran
  • quinpirole
  • beta-estradiol
regulates
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 human 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

Gene-Specific Assays for Results You Can Trust

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