Version: 8.0.0
Date: Tue Jan 28 2025
Ube3a
Drosophila melanogasterFB:FBgn0061469
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Ube3a

Species
Drosophila melanogaster
Symbol
Ube3a
Name
Ubiquitin protein ligase E3A
Synonyms
  • Angelman syndrome
  • AS
Biotype
protein coding gene
Automated Description
Enables ubiquitin protein ligase activity. Involved in several processes, including long-term memory; negative regulation of synaptic assembly at neuromuscular junction; and neuron development. Located in cytosol. Is expressed in several structures, including adult mushroom body; brain; embryonic cortex; gonad; and neuroblast of ventral nervous system. Used to study Angelman syndrome; autism spectrum disorder; chromosome 15q11.2 deletion syndrome; epilepsy; and intellectual disability. Human ortholog(s) of this gene implicated in Angelman syndrome. Orthologous to human UBE3A (ubiquitin protein ligase E3A).
FB Description
Ubiquitin protein ligase E3A (Ube3a) encodes the founding member of the HECT-type ubiquitin E3 ligase family of enzymes. It is involved in the final step of conjugation of ubiquitin to its target substrates. It regulates protein degradation by targeting modified proteins to the proteasome or by regulating the proteasome activity through ubiquitination of its subunits, which in turn affects many aspects of neuronal function, such as synaptic plasticity, long-term memory or dendritic development.
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45622
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    Gene
    Association
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    Disease
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
        Expressed components
        Knock-down targets
        Regulatory regions
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          Models

          Model name
          Experimental condition
          Associated Human Diseases
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            Sequence Feature Viewer

            Genome location
            Assembly version
            R6
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            Data currently unavailable; sequence viewer under construction

            Sequence Details

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            Expression

            Primary Sources
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            Ube3a molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
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              Genetic Interactions

              Ube3a role
              Ube3a genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
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