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

    Gene ID: 777, updated on 17-Jun-2019

    Summary

    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
    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; 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

    Genomic context

    See CACNA1E in Genome Data Viewer
    Location:
    1q25.3
    Exon count:
    52
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (181317712..181808084)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (181452447..181775920)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1699 Neighboring gene uncharacterized LOC107985454 Neighboring gene uncharacterized LOC107985232 Neighboring gene RNA, 5S ribosomal pseudogene 70 Neighboring gene Sharpr-MPRA regulatory region 5358 Neighboring gene RN7SK pseudogene 229

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
    MedGen: CN258122 OMIM: 618285 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
      Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels, organism-specific biosystem (from REACTOME)
      Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels, organism-specific biosystemThe action potential travels down the axon and reaches the pre-synaptic terminal depolarizing the membrane in the pre-synaptic terminal. The depolarization causes the voltage-gated Ca2+ channels to ...
    • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
      Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Regulation of insulin secretion, organism-specific biosystem (from REACTOME)
      Regulation of insulin secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
    • Type II diabetes mellitus, organism-specific biosystem (from KEGG)
      Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    • Type II diabetes mellitus, conserved biosystem (from KEGG)
      Type II diabetes mellitus, conserved biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    voltage-gated cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    calcium ion import IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane depolarization TAS
    Traceable Author Statement
    more info
     
    regulation of insulin secretion TAS
    Traceable Author Statement
    more info
     
    regulation of ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    voltage-gated calcium channel complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    voltage-dependent R-type calcium channel subunit alpha-1E
    Names
    brain calcium channel II
    calcium channel, L type, alpha-1 polypeptide, isoform 6
    calcium channel, R type, alpha-1 polypeptide, isoform 6
    voltage-dependent calcium channel alpha 1E subunit
    voltage-gated calcium channel alpha subunit Cav2.3

    NCBI Reference Sequences (RefSeq)

    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_050616.1 RefSeqGene

      Range
      5207..328474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000721.4NP_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/Swiss-Prot
      Q15878
      UniProtKB/TrEMBL
      Q59FG1
      Related
      ENSP00000356542.1, ENST00000367570.5
      Conserved Domains (4) summary
      pfam17069
      Location:19582089
      RSRP; Arginine/Serine-Rich protein 1
      pfam00520
      Location:14771734
      Ion_trans; Ion transport protein
      pfam08763
      Location:18071881
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16905
      Location:17351805
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
    2. NM_001205293.3NP_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
      Q15878
      UniProtKB/TrEMBL
      Q59FG1
      Related
      ENSP00000356545.2, ENST00000367573.7
      Conserved Domains (4) summary
      pfam00520
      Location:14771734
      Ion_trans; Ion transport protein
      pfam08763
      Location:18071881
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16905
      Location:17351805
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated
      cl28033
      Location:19782200
      Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
    3. NM_001205294.2NP_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/Swiss-Prot
      Q15878
      UniProtKB/TrEMBL
      Q59FG1
      Related
      ENSP00000481619.1, ENST00000621791.4
      Conserved Domains (4) summary
      pfam17069
      Location:19392070
      RSRP; Arginine/Serine-Rich protein 1
      pfam00520
      Location:14581715
      Ion_trans; Ion transport protein
      pfam08763
      Location:17881862
      Ca_chan_IQ; Voltage gated calcium channel IQ domain
      pfam16905
      Location:17161786
      GPHH; Voltage-dependent L-type calcium channel, IQ-associated

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      181317712..181808084
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

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

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

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

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

    6. XM_017002249.1XP_016857738.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X7

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

    8. XM_017002250.1XP_016857739.1  voltage-dependent R-type calcium channel subunit alpha-1E isoform X8

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

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