CACNA1E

CACNA1E Gene Summary

Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These 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, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]

Details

Type
Protein Coding
Official Symbol
CACNA1E
Official Name
calcium voltage-gated channel subunit alpha1 E [Source:HGNC Symbol;Acc:HGNC:1392]
Ensembl ID
ENSG00000198216
Bio databases IDs NCBI: 777 Ensembl: ENSG00000198216
Aliases calcium voltage-gated channel subunit alpha1 E
Synonyms
A430040I15,alpha1E,BII,Cac1e,CACH6,CACHA1E,CACNL1A6,Calcium Channel alpha1e,Calcium channel isoform alpha 1e7,Calcium channel isoform α 1e7,calcium channel, voltage-dependent, R type, alpha 1E subunit,calcium channel, voltage-dependent, R type, α 1E subunit,calcium voltage-gated channel subunit alpha1 E,Cav2.3,Cchra1,DEE69,EIEE69,gm139,LOC103690332,Vdcc α 1e
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
  • low voltage-gated calcium channel
  • protein binding
  • voltage-gated ion channel
  • ion channel
  • Polycystin cation channel
  • 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
  • STXBP1
  • YWHAB
  • YWHAE
  • GNB2
  • CALM1
  • CACNB4
  • NCKAP1
  • ANK1
  • RHOA
  • TRAPPC9
disease
  • acute myeloid leukemia
  • Ohtahara syndrome
  • hereditary disorder
  • amblyopia
  • Parkinson disease
  • neuroticism
  • developmental epileptic encephalopathy
  • early infantile epileptic encephalopathy type 69
  • Alzheimer disease
  • weight gain
regulated by
  • IL2
  • CYGB
  • THRA
  • SMARCA5
  • DRD2
  • SERPINB7
  • RSL3
  • SRC
  • Immunoglobulin
  • HNRNPU
regulates
  • D-glucose
  • GCG
  • insulin
  • L-glutamic acid
  • Ca2+
  • Ins1
role in cell
  • exocytosis
  • number
  • motility
  • function
  • transmission

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
  • inhibitory bouton
  • cell surface
  • postsynaptic region
  • cellular membrane
  • flagella
  • presynaptic membrane
  • postsynaptic membrane
  • synaptic membrane
  • sperm head
  • dendritic spines
  • synaptic vesicles
  • neuromuscular junctions
  • synapse
  • perikaryon
  • dendrites
  • postsynaptic density
  • presynaptic terminals

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the CACNA1E gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • synaptic transmission

CELLULAR COMPONENT

Where in the cell the gene product is active
  • voltage-gated calcium channel complex
  • neuronal cell body
  • synapse
  • plasma membrane

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • high voltage-gated calcium channel activity
  • calcium ion binding
  • voltage-gated cation channel activity
  • voltage-gated calcium channel activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.