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CACNA1E calcium voltage-gated channel subunit alpha1 E [ Homo sapiens (human) ]

Gene ID: 777, updated on 3-Apr-2024

Summary

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Official Symbol
CACNA1Eprovided by HGNC
Official Full Name
calcium voltage-gated channel subunit alpha1 Eprovided by HGNC
Primary source
HGNC:HGNC:1392
See related
Ensembl:ENSG00000198216 MIM:601013; AllianceGenome:HGNC:1392
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BII; CACH6; DEE69; gm139; Cav2.3; EIEE69; CACNL1A6
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]
Expression
Biased expression in brain (RPKM 3.3), adrenal (RPKM 0.4) and 2 other tissues See more
Orthologs
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Genomic context

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See CACNA1E in Genome Data Viewer
Location:
1q25.3
Exon count:
52
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (181317699..181808084)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (180673125..181163498)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (181452653..181777219)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak492 silencer Neighboring gene long intergenic non-protein coding RNA 1699 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:181277357-181277857 Neighboring gene uncharacterized LOC107985454 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:181287535-181288165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2185 Neighboring gene uncharacterized LOC107985232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1611 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:181452360-181452884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:181450844-181451376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1612 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:181452885-181453408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2194 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:181598156-181598432 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:181737037-181738236 Neighboring gene RNA, 5S ribosomal pseudogene 70 Neighboring gene Sharpr-MPRA regulatory region 5358 Neighboring gene RN7SK pseudogene 229 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:181889418-181889626 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:181960367-181960534 Neighboring gene uncharacterized LOC105371640

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mutations and clinical significance of calcium voltage-gated channel subunit alpha 1E (CACNA1E) in non-small cell lung cancer. Gao SH, et al. Cell Calcium, 2022 Mar. PMID 35026540
  2. De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures. Royer-Bertrand B, et al. Mol Autism, 2021 Oct 26. PMID 34702355, Free PMC Article
  3. Cav2.3 R-type calcium channels: from its discovery to pathogenic de novo CACNA1E variants: a historical perspective. Schneider T, et al. Pflugers Arch, 2020 Jul. PMID 32529299, Free PMC Article
  4. Possible Involvement of the CACNA1E Gene in Migraine: A Search for Single Nucleotide Polymorphism in Different Clinical Phenotypes. Ambrosini A, et al. Headache, 2017 Jul. PMID 28573794
  5. Opposite Associations Between the rs3845446 Single-Nucleotide Polymorphism of the CACNA1E Gene and Postoperative Pain-Related Phenotypes in Gastrointestinal Surgery Versus Previously Reported Orthognathic Surgery. Amano K, et al. J Pain, 2016 Oct. PMID 27480382

See all (58) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.
    Title: Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.
  2. De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
    Title: De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
  3. Mutations and clinical significance of calcium voltage-gated channel subunit alpha 1E (CACNA1E) in non-small cell lung cancer.
    Title: Mutations and clinical significance of calcium voltage-gated channel subunit alpha 1E (CACNA1E) in non-small cell lung cancer.
  4. Direct inhibition of CaV2.3 by Gem is dynamin dependent and does not require a direct alfa/beta interaction.
    Title: Direct inhibition of Ca(V)2.3 by Gem is dynamin dependent and does not require a direct alfa/beta interaction.
  5. Cav2.3 R-type calcium channels: from its discovery to pathogenic de novo CACNA1E variants: a historical perspective.
    Title: Cav2.3 R-type calcium channels: from its discovery to pathogenic de novo CACNA1E variants: a historical perspective.
  6. F0F1 ATP synthase regulates extracellular calcium influx in human neutrophils by interacting with Cav2.3 and modulates neutrophil accumulation in the lipopolysaccharide-challenged lung.
    Title: F0F1 ATP synthase regulates extracellular calcium influx in human neutrophils by interacting with Ca(v)2.3 and modulates neutrophil accumulation in the lipopolysaccharide-challenged lung.
  7. The variants in CACNA1E as a cause of DEEs.
    Title: De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.
  8. This study identified a polymorphism in exon 20 of the CACNA1E gene (Asp859Glu - rs35737760) that is more prevalent in hemiplegic and brain stem aura migraine.
    Title: Possible Involvement of the CACNA1E Gene in Migraine: A Search for Single Nucleotide Polymorphism in Different Clinical Phenotypes.
  9. Carriers of the minor G allele of the rs3845446 SNP exhibited enhanced pain-related phenotypes after gastrointestinal surgery. The pain-related phenotypes of carriers of the minor allele of this SNP after gastrointestinal surgery were opposite to such phenotypes after orthognathic surgery.
    Title: Opposite Associations Between the rs3845446 Single-Nucleotide Polymorphism of the CACNA1E Gene and Postoperative Pain-Related Phenotypes in Gastrointestinal Surgery Versus Previously Reported Orthognathic Surgery.
  10. Data suggest that, in vascular smooth muscle cells, increase in cytosolic endothelin-1 (EDN1) induces sustained increase in nuclear Ca2+ via stimulation of R-type calcium channel (CACNA1E) present at the nuclear membrane.
    Title: Nuclear membrane R-type calcium channels mediate cytosolic ET-1-induced increase of nuclear calcium in human vascular smooth muscle cells.
Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 69
MedGen: C4748988 OMIM: 618285 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genetics of coronary artery calcification among African Americans, a meta-analysis.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables high voltage-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables voltage-gated calcium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables voltage-gated monoatomic cation channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in calcium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  
part_of voltage-gated calcium channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
voltage-dependent R-type calcium channel subunit alpha-1E
Names
brain calcium channel II
calcium channel, L type, alpha-1 polypeptide
calcium channel, R type, alpha-1 polypeptide
voltage-dependent calcium channel alpha 1E subunit
voltage-gated calcium channel alpha subunit Cav2.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050616.2 RefSeqGene

    Range
    170820..495387
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000721.4 → NP_000712.2  voltage-dependent R-type calcium channel subunit alpha-1E isoform 3

    See identical proteins and their annotated locations for NP_000712.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is missing an in-frame coding exon compared to variant 1. This results in a shorter isoform (3, also known as alpha-1E-3) missing an internal protein segment compared to isoform 1.
    Source sequence(s)
    AB209499, AK309070, AL160059, AL161734, BC037800, BP230397, KF510705, L29385
    Consensus CDS
    CCDS53443.1
    UniProtKB/TrEMBL
    F8W9Z1
    Related
    ENSP00000356542.1, ENST00000367570.6
    Conserved Domains (4) summary
    pfam17069
    Location:1958 → 2089
    RSRP; Arginine/Serine-Rich protein 1
    pfam00520
    Location:1477 → 1734
    Ion_trans; Ion transport protein
    pfam08763
    Location:1807 → 1881
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16905
    Location:1735 → 1805
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

  2. NM_001205293.3 → NP_001192222.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform 1

    See identical proteins and their annotated locations for NP_001192222.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (1, also known as alpha-1E).
    Source sequence(s)
    AL160059, AL161734, BP230397, BP230632, KF510705, L27745
    Consensus CDS
    CCDS55664.1
    UniProtKB/Swiss-Prot
    B1AM12, B1AM13, B1AM14, Q14580, Q14581, Q15878
    UniProtKB/TrEMBL
    F8W9Z1
    Related
    ENSP00000356545.2, ENST00000367573.7
    Conserved Domains (4) summary
    pfam00520
    Location:1477 → 1734
    Ion_trans; Ion transport protein
    pfam08763
    Location:1807 → 1881
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16905
    Location:1735 → 1805
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    cl28033
    Location:1978 → 2200
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region

  3. NM_001205294.2 → NP_001192223.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing two non-consecutive in-frame coding exons compared to variant 1. This results in a shorter isoform (2, also known as alpha-1E-1) missing two internal protein segments compared to isoform 1.
    Source sequence(s)
    AB209499, AK309070, AL160059, AL161734, BC037800, BP230397, KF510705, L29384
    Consensus CDS
    CCDS55665.1
    UniProtKB/TrEMBL
    F8W9Z1
    Related
    ENSP00000481619.1, ENST00000621791.4
    Conserved Domains (4) summary
    pfam17069
    Location:1939 → 2070
    RSRP; Arginine/Serine-Rich protein 1
    pfam00520
    Location:1458 → 1715
    Ion_trans; Ion transport protein
    pfam08763
    Location:1788 → 1862
    Ca_chan_IQ; Voltage gated calcium channel IQ domain
    pfam16905
    Location:1716 → 1786
    GPHH; Voltage-dependent L-type calcium channel, IQ-associated

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    181317699..181808084
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002244.2 → XP_016857733.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X2

    UniProtKB/TrEMBL
    F8W9Z1

  2. XM_017002243.2 → XP_016857732.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X1

    UniProtKB/TrEMBL
    F8W9Z1

  3. XM_017002249.2 → XP_016857738.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X8

    UniProtKB/TrEMBL
    F8W9Z1

  4. XM_017002248.2 → XP_016857737.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X6

    UniProtKB/TrEMBL
    F8W9Z1

  5. XM_017002246.2 → XP_016857735.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X4

    UniProtKB/TrEMBL
    F8W9Z1

  6. XM_017002245.2 → XP_016857734.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X3

    UniProtKB/TrEMBL
    F8W9Z1

  7. XM_017002247.2 → XP_016857736.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X5

    UniProtKB/TrEMBL
    F8W9Z1

  8. XM_017002250.2 → XP_016857739.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X9

    UniProtKB/TrEMBL
    F8W9Z1

  9. XM_047429979.1 → XP_047285935.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X7

  10. XM_047429980.1 → XP_047285936.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X10

  11. XM_017002251.1 → XP_016857740.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X1

    UniProtKB/TrEMBL
    F8W9Z1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    180673125..181163498
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338635.1 → XP_054194610.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X2

  2. XM_054338634.1 → XP_054194609.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X1

  3. XM_054338639.1 → XP_054194614.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X6

  4. XM_054338637.1 → XP_054194612.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X4

  5. XM_054338636.1 → XP_054194611.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X3

  6. XM_054338638.1 → XP_054194613.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X5

  7. XM_054338640.1 → XP_054194615.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X7

  8. XM_054338644.1 → XP_054194619.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X10

  9. XM_054338641.1 → XP_054194616.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X8

  10. XM_054338642.1 → XP_054194617.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X9

  11. XM_054338643.1 → XP_054194618.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15878.3 GenPept UniProtKB/Swiss-Prot:Q15878

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