Version: 8.0.0
Date: Tue Jan 28 2025
ABCA5
Homo sapiensHGNC:35
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

ABCA5

Species
Homo sapiens
Symbol
ABCA5
Name
ATP binding cassette subfamily A member 5
Synonyms
  • ABC13
  • ATP-binding cassette A5
Biotype
protein coding gene
Automated Description
Predicted to enable ATPase-coupled transmembrane transporter activity and lipid transporter activity. Involved in cholesterol homeostasis; cholesterol metabolic process; and regulation of cholesterol efflux. Predicted to be located in lysosome. Predicted to be active in late endosome.
RGD Description
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR19229
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
None
Other Sources
Phenotype Term
Annotation details
References
No records match query. Try removing filters.
Showing 0 - 0 of 0 rows
per page

    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
    No records match query. Try removing filters.
    Showing 0 - 0 of 0 rows
    per page

      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
      Has Phenotype Annotations
      No records match query. Try removing filters.
      Showing 0 - 0 of 0 rows
      per page
        Download all Alleles/Variants for all genes of the species

        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
        Expressed components
        Knock-down targets
        Regulatory regions
        Has Disease Annotations
        Has Phenotype Annotations
        No records match query. Try removing filters.
        Showing 0 - 0 of 0 rows
        per page

          Models

          Model name
          Experimental condition
          Associated Human Diseases
          Associated Phenotypes
          Modifier
          Source
          No records match query. Try removing filters.
          Showing 0 - 0 of 0 rows
          per page

            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
            Viewer Help
            69.25M69.26M69.27M69.28M69.29M69.30M69.31M69.32M

            Sequence Details

            Loading...

            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            ABCA5 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
            No records match query. Try removing filters.
            Showing 0 - 0 of 0 rows
            per page

              Genetic Interactions

              ABCA5 role
              ABCA5 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
              Reference
              No records match query. Try removing filters.
              Showing 0 - 0 of 0 rows
              per page