Version: 8.0.0
Date: Tue Jan 28 2025
Appl1
Mus musculusMGI:1920243
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Appl1

Species
Mus musculus
Symbol
Appl1
Name
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
Synonyms
  • 2900057D21Rik
  • 7330406P05Rik
Biotype
protein coding gene
Automated Description
Predicted to enable several functions, including beta-tubulin binding activity; phospholipid binding activity; and protein homodimerization activity. Involved in several processes, including cellular response to hepatocyte growth factor stimulus; positive regulation of cytokine production involved in inflammatory response; and regulation of endocytosis. Located in cytoplasmic vesicle and ruffle. Is expressed in several structures, including liver; muscle tissue; spleen; stomach; and testis. Human ortholog(s) of this gene implicated in maturity-onset diabetes of the young type 14. Orthologous to human APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1).
MGI Description
PHENOTYPE: Mice homozygous for a null allele exhibit decreased insulin-induced relaxation and increased insulin-induced ET-1-dependent vasoconstriction when fed a high fat diet. Homozygotes for a second null allele show increased hematocrit and T cell proliferation, and decreased fibroblast cell migration. Homozygotes for a third null allele show hyperactivity, increased body core temperature, and insulin resistance. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46415
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
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
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        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
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          Models

          Model name
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          Associated Human Diseases
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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCm39
            Viewer Help
            26.645M26.650M26.655M26.660M26.665M26.670M26.675M26.680M26.685M26.690M

            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

            Appl1 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
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              Genetic Interactions

              Appl1 role
              Appl1 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
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