Human Gene CACNA1E (ENST00000367570.6) from GENCODE V44
Description: Homo sapiens calcium voltage-gated channel subunit alpha1 E (CACNA1E), transcript variant 3, mRNA. (from RefSeq NM_000721) RefSeq Summary (NM_000721): 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]. Gencode Transcript: ENST00000367570.6 Gencode Gene: ENSG00000198216.14 Transcript (Including UTRs) Position: hg38 chr1:181,482,854-181,801,580 Size: 318,727 Total Exon Count: 47 Strand: + Coding Region Position: hg38 chr1:181,483,745-181,798,834 Size: 315,090 Coding Exon Count: 47
ID:CAC1E_HUMAN DESCRIPTION: RecName: Full=Voltage-dependent R-type calcium channel subunit alpha-1E; AltName: Full=Brain calcium channel II; Short=BII; AltName: Full=Calcium channel, L type, alpha-1 polypeptide, isoform 6; AltName: Full=Voltage-gated calcium channel subunit alpha Cav2.3; FUNCTION: Voltage-sensitive calcium channels (VSCC) 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. The isoform alpha-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel, and partially by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to dihydropyridines (DHP), omega- conotoxin-GVIA (omega-CTx-GVIA), and omega-agatoxin-IVA (omega- Aga-IVA). Calcium channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing. SUBUNIT: Interacts with EFHC1. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed in neuronal tissues and in kidney. DOMAIN: Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position. SIMILARITY: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1E subfamily. SIMILARITY: Contains 1 EF-hand domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q15878
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005216 ion channel activity GO:0005244 voltage-gated ion channel activity GO:0005245 voltage-gated calcium channel activity GO:0005262 calcium channel activity GO:0005509 calcium ion binding GO:0008331 high voltage-gated calcium channel activity GO:0046872 metal ion binding
Biological Process: GO:0006811 ion transport GO:0006816 calcium ion transport GO:0007268 chemical synaptic transmission GO:0034765 regulation of ion transmembrane transport GO:0050796 regulation of insulin secretion GO:0051899 membrane depolarization GO:0055085 transmembrane transport GO:0070588 calcium ion transmembrane transport GO:0086010 membrane depolarization during action potential