Version: 8.0.0
Date: Tue Jan 28 2025
Aars1
Mus musculusMGI:2384560
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Aars1

Species
Mus musculus
Symbol
Aars1
Name
alanyl-tRNA synthetase 1
Synonyms
  • Aars
  • AI316495
Biotype
protein coding gene
Automated Description
Enables Ser-tRNA(Ala) hydrolase activity and alanine-tRNA ligase activity. Involved in alanyl-tRNA aminoacylation; regulation of cytoplasmic translational fidelity; and tRNA modification. Acts upstream of or within cerebellar Purkinje cell layer development; negative regulation of neuron apoptotic process; and neuromuscular process controlling balance. Predicted to be located in cytosol. Predicted to be active in mitochondrion and nucleus. Is expressed in several structures, including adrenal gland; alimentary system; nervous system; respiratory system; and urinary system. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2N; developmental and epileptic encephalopathy 29; leukodystrophy; and trichothiodystrophy. Orthologous to human AARS1 (alanyl-tRNA synthetase 1).
MGI Description
PHENOTYPE: Homozygotes for a spontaneous point mutation (A734E) exhibit a rough sticky coat, follicular dystrophy, patchy hair loss, progressive ataxia, and Purkinje cell degeneration. Homozygotes for a targeted point mutation (C723A) die by mid-gestation, while heterozygotes show mild Purkinje cell loss. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11777
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
    No data available

    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
        Associated Phenotypes
        Modifier
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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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

          Aars1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
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            Genetic Interactions

            Aars1 role
            Aars1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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