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Aliases for CACNA1E Gene

Aliases for CACNA1E Gene

  • Calcium Voltage-Gated Channel Subunit Alpha1 E 2 3
  • Calcium Channel, Voltage-Dependent, R Type, Alpha 1E Subunit 2 3 5
  • Calcium Voltage-Gated Channel Subunit Alpha1 Subunit E 2 3
  • Voltage-Gated Calcium Channel Subunit Alpha Cav2.3 3 4
  • Brain Calcium Channel II 3 4
  • CACNL1A6 3 4
  • CACH6 3 4
  • BII 3 4
  • Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 6 4
  • Calcium Channel, Voltage-Dependent, Alpha 1E Subunit 3
  • Voltage-Dependent Calcium Channel Alpha 1E Subunit 3
  • Voltage-Gated Calcium Channel Alpha Subunit Cav2.3 3
  • Voltage-Gated Calcium Channel Alpha 1E Subunit 3
  • Calcium Channel, L Type, Alpha-1 Polypeptide 3
  • Calcium Channel, R Type, Alpha-1 Polypeptide 3
  • Cav2.3 3

External Ids for CACNA1E Gene

Previous HGNC Symbols for CACNA1E Gene

  • CACNL1A6

Previous GeneCards Identifiers for CACNA1E Gene

  • GC01P178976
  • GC01P176881
  • GC01P177972
  • GC01P178692
  • GC01P178184
  • GC01P179648
  • GC01P179719
  • GC01P152684

Summaries for CACNA1E Gene

Entrez Gene Summary for CACNA1E Gene

  • 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]

GeneCards Summary for CACNA1E Gene

CACNA1E (Calcium Voltage-Gated Channel Subunit Alpha1 E) is a Protein Coding gene. Among its related pathways are Metabolism and Transmission across Chemical Synapses. GO annotations related to this gene include calcium ion binding and voltage-gated calcium channel activity. An important paralog of this gene is CACNA1A.

UniProtKB/Swiss-Prot for CACNA1E Gene

  • 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.

Tocris Summary for CACNA1E Gene

  • Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.

Gene Wiki entry for CACNA1E Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACNA1E Gene

Genomics for CACNA1E Gene

Regulatory Elements for CACNA1E Gene

Genomic Location for CACNA1E Gene

Chromosome:
1
Start:
181,413,102 bp from pter
End:
181,808,084 bp from pter
Size:
394,983 bases
Orientation:
Plus strand

Genomic View for CACNA1E Gene

Genes around CACNA1E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACNA1E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACNA1E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACNA1E Gene

Proteins for CACNA1E Gene

  • Protein details for CACNA1E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15878-CAC1E_HUMAN
    Recommended name:
    Voltage-dependent R-type calcium channel subunit alpha-1E
    Protein Accession:
    Q15878
    Secondary Accessions:
    • B1AM12
    • B1AM13
    • B1AM14
    • Q14580
    • Q14581

    Protein attributes for CACNA1E Gene

    Size:
    2313 amino acids
    Molecular mass:
    261731 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for CACNA1E Gene

    Alternative splice isoforms for CACNA1E Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACNA1E Gene

Proteomics data for CACNA1E Gene at MOPED

Post-translational modifications for CACNA1E Gene

  • Glycosylation at Asn 254, Asn 1566, and Asn 1571
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CACNA1E Gene

Domains & Families for CACNA1E Gene

Graphical View of Domain Structure for InterPro Entry

Q15878

UniProtKB/Swiss-Prot:

CAC1E_HUMAN :
  • 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.
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1E subfamily.
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.
  • Contains 1 EF-hand domain.
Family:
  • Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1E subfamily.
genes like me logo Genes that share domains with CACNA1E: view

Function for CACNA1E Gene

Molecular function for CACNA1E Gene

GENATLAS Biochemistry:
calcium voltage-gated channel (VDCC),R type,alpha 1E subunit,involved in the modulation of calcium mediated hormone secretion,isoform 6,abundantly expressed in neuronal tissue,and one form CACNEec specific for islets of Langerhans and kidney
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with CACNA1E: view

Animal Models for CACNA1E Gene

MGI Knock Outs for CACNA1E:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CACNA1E Gene

Localization for CACNA1E Gene

Subcellular locations from UniProtKB/Swiss-Prot for CACNA1E Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CACNA1E Gene COMPARTMENTS Subcellular localization image for CACNA1E gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for CACNA1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CACNA1E: view

Pathways & Interactions for CACNA1E Gene

genes like me logo Genes that share pathways with CACNA1E: view

Gene Ontology (GO) - Biological Process for CACNA1E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process TAS --
GO:0006811 ion transport IEA --
GO:0055085 transmembrane transport IEA --
GO:0070588 calcium ion transmembrane transport IEA --
GO:0086010 membrane depolarization during action potential IBA --
genes like me logo Genes that share ontologies with CACNA1E: view

No data available for SIGNOR curated interactions for CACNA1E Gene

Drugs & Compounds for CACNA1E Gene

(35) Drugs for CACNA1E Gene - From: IUPHAR, DGIdb, ApexBio, Novoseek, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amlodipine Approved Pharma Calcium channel blocker 449
Felodipine Approved, Investigational Pharma Potentiation, Activator 22
Nilvadipine Approved Pharma Syk kinase inhibitor; inhibits Abeta production 1
Nisoldipine Approved Pharma Gating inhibitor 5
Nitrendipine Approved Pharma Inhibition, Pore Blocker Calcium channel blocker 5

(4) Additional Compounds for CACNA1E Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Bay K 8644
71145-03-4
(S)-(-)-Bay K 8644
98625-26-4
Flunarizine dihydrochloride
30484-77-6
FPL 64176
120934-96-5
genes like me logo Genes that share compounds with CACNA1E: view

Transcripts for CACNA1E Gene

Unigene Clusters for CACNA1E Gene

Calcium channel, voltage-dependent, R type, alpha 1E subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CACNA1E Gene

No ASD Table

Relevant External Links for CACNA1E Gene

GeneLoc Exon Structure for
CACNA1E
ECgene alternative splicing isoforms for
CACNA1E

Expression for CACNA1E Gene

mRNA expression in normal human tissues for CACNA1E Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CACNA1E Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x8.8), Brain - Putamen (basal ganglia) (x5.9), Brain - Caudate (basal ganglia) (x5.8), Brain - Cortex (x4.6), Brain - Anterior cingulate cortex (BA24) (x4.4), and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for CACNA1E Gene

This gene is overexpressed in Serum (40.2), Frontal cortex (20.1), and Fetal Brain (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CACNA1E Gene



SOURCE GeneReport for Unigene cluster for CACNA1E Gene Hs.437444

mRNA Expression by UniProt/SwissProt for CACNA1E Gene

Q15878-CAC1E_HUMAN
Tissue specificity: Expressed in neuronal tissues and in kidney.
genes like me logo Genes that share expression patterns with CACNA1E: view

Protein tissue co-expression partners for CACNA1E Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for CACNA1E Gene

This gene was present in the common ancestor of animals.

Orthologs for CACNA1E Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACNA1E 35
  • 99.51 (n)
  • 99.7 (a)
CACNA1E 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CAV2.3 36
  • 97 (a)
OneToOne
CACNA1E 35
  • 92.26 (n)
  • 96.91 (a)
dog
(Canis familiaris)
Mammalia CACNA1E 35
  • 92.47 (n)
  • 96.8 (a)
CACNA1E 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cacna1e 36
  • 96 (a)
OneToOne
Cacna1e 16
Cacna1e 35
  • 90.44 (n)
  • 96.48 (a)
oppossum
(Monodelphis domestica)
Mammalia CACNA1E 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CACNA1E 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cacna1e 35
  • 90.23 (n)
  • 95.99 (a)
chicken
(Gallus gallus)
Aves CACNA1E 35
  • 81.3 (n)
  • 87.59 (a)
CACNA1E 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CACNA1E 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cacna1e 35
  • 73.34 (n)
  • 79.85 (a)
zebrafish
(Danio rerio)
Actinopterygii CACNA1E (2 of 2) 36
  • 63 (a)
OneToMany
cacna1r 36
  • 65 (a)
OneToMany
LOC564274 35
  • 70.95 (n)
  • 75.96 (a)
fruit fly
(Drosophila melanogaster)
Insecta cac 37
  • 60 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToMany
Species with no ortholog for CACNA1E:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CACNA1E Gene

ENSEMBL:
Gene Tree for CACNA1E (if available)
TreeFam:
Gene Tree for CACNA1E (if available)

Paralogs for CACNA1E Gene

Paralogs for CACNA1E Gene

Pseudogenes.org Pseudogenes for CACNA1E Gene

genes like me logo Genes that share paralogs with CACNA1E: view

Variants for CACNA1E Gene

Sequence variations from dbSNP and Humsavar for CACNA1E Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs35737760 - 181,732,663(+) GGGGA(A/T)GGAGG reference, missense
rs704326 - 181,790,521(-) ATCGG(C/T)GGGGT reference, missense
rs3678 -- 181,804,882(-) AAGAA(C/T)AGAGT utr-variant-3-prime
rs3681 -- 181,804,812(-) TCAAA(C/T)GCTTA utr-variant-3-prime
rs199910 -- 181,631,529(+) GAAGA(A/G)AGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CACNA1E Gene

Variant ID Type Subtype PubMed ID
esv2719984 CNV Deletion 23290073
nsv517925 CNV Loss 19592680
esv274432 CNV Insertion 20981092
esv269576 CNV Insertion 20981092
esv274609 CNV Insertion 20981092
esv271216 CNV Insertion 20981092
nsv516290 CNV Gain 19592680
esv2719995 CNV Deletion 23290073
esv2720006 CNV Deletion 23290073

Variation tolerance for CACNA1E Gene

Residual Variation Intolerance Score: 3.34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.83; 58.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CACNA1E Gene

HapMap Linkage Disequilibrium report
CACNA1E
Human Gene Mutation Database (HGMD)
CACNA1E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACNA1E Gene

Disorders for CACNA1E Gene

Relevant External Links for CACNA1E

Genetic Association Database (GAD)
CACNA1E
Human Genome Epidemiology (HuGE) Navigator
CACNA1E
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CACNA1E

No disorders were found for CACNA1E Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CACNA1E Gene

Publications for CACNA1E Gene

  1. Structure and functional characterization of neuronal alpha 1E calcium channel subtypes. (PMID: 8071363) Williams M.E. … Ellis S.B. (J. Biol. Chem. 1994) 3 4 23 67
  2. Muscarinic modulation of Cav2.3 (R-type) calcium channels is antagonized by RGS3 and RGS3T. (PMID: 16855219) Toro-Castillo C. … Meza U. (Am. J. Physiol., Cell Physiol. 2007) 3 23
  3. Neurokinin 1 receptors trigger overlapping stimulation and inhibition of CaV2.3 (R-type) calcium channels. (PMID: 17050807) Meza U. … Adams B.A. (Mol. Pharmacol. 2007) 3 23
  4. International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. (PMID: 16382099) Catterall W.A. … Striessnig J. (Pharmacol. Rev. 2005) 2 3
  5. Locations of human genes for alpha 1A, alpha 1B, and alpha 1E calcium channels determined by radiation hybrid mapping. (PMID: 9656471) Yamazaki K. … Tanaka I. (J. Hered. 1998) 3 23

Products for CACNA1E Gene

Sources for CACNA1E Gene

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