Version: 8.0.0
Date: Tue Jan 28 2025
ARV1
Saccharomyces cerevisiaeSGD:S000004232
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

ARV1

Species
Saccharomyces cerevisiae
Symbol
ARV1
Name
ARE2 Required for Viability
Synonyms
  • YLR242C
Biotype
protein coding gene
Automated Description
Predicted to enable zinc ion binding activity. Involved in several processes, including intracellular lipid transport; membrane lipid biosynthetic process; and regulation of plasma membrane sterol distribution. Located in Golgi apparatus and cortical endoplasmic reticulum. Used to study developmental and epileptic encephalopathy 38 and lipid storage disease. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 38. Orthologous to human ARV1 (ARV1 homolog, fatty acid homeostasis modulator).
SGD Description
Cortical ER protein; implicated in the membrane insertion of tail-anchored C-terminal single transmembrane domain proteins; may function in transport of glycosylphosphatidylinositol intermediates into the ER lumen; required for normal intracellular sterol distribution; human ARV1, required for normal cholesterol and bile acid homeostasis, can complement yeast arv1 null mutant; human variant causing early onset epileptic encephalopathy is unable to rescue the yeast null
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR14467:SF0
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
None
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
    No data available

    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
          R64-5-1
          Viewer Help
          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

          ARV1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            ARV1 role
            ARV1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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