Version: 8.0.0
Date: Tue Jan 28 2025
Atp6v1e1
Mus musculusMGI:894326
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Atp6v1e1

Species
Mus musculus
Symbol
Atp6v1e1
Name
ATPase, H+ transporting, lysosomal V1 subunit E1
Synonyms
  • 2410029D23Rik
  • Atp6e
Biotype
protein coding gene
Automated Description
Enables proton-transporting ATPase activity, rotational mechanism. Involved in synaptic vesicle lumen acidification. Acts upstream of or within proton transmembrane transport. Located in several cellular components, including apical plasma membrane; endosome; and microvillus. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IIC. Orthologous to human ATP6V1E1 (ATPase H+ transporting V1 subunit E1).
MGI Description
Not Available
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45715
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
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    Gene
    Association
    Disease Qualifier
    Disease
    Evidence
    Source
    Based On
    References
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
      Has Phenotype Annotations
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        Transgenic Alleles

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

          Model name
          Experimental condition
          Associated Human Diseases
          Associated Phenotypes
          Modifier
          Source
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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCm39
            Viewer Help
            120.775M120.780M120.785M120.790M120.795M

            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

            Atp6v1e1 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
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              Genetic Interactions

              Atp6v1e1 role
              Atp6v1e1 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
              Reference
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