Version: 8.0.0
Date: Tue Jan 28 2025
Myo5a
Mus musculusMGI:105976
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Myo5a

Species
Mus musculus
Symbol
Myo5a
Name
myosin VA
Synonyms
  • 9630007J19Rik
  • AI413174
Biotype
protein coding gene
Automated Description
Enables several functions, including calmodulin binding activity; disordered domain specific binding activity; and small GTPase binding activity. Involved in several processes, including cellular response to insulin stimulus; establishment of endoplasmic reticulum localization to postsynapse; and regulation of postsynaptic cytosolic calcium ion concentration. Acts upstream of or within several processes, including melanosome transport; regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity; and secretion by cell. Located in several cellular components, including cytoplasmic vesicle; cytoskeleton; and photoreceptor outer segment. Part of unconventional myosin complex. Is active in glutamatergic synapse; postsynapse; and smooth endoplasmic reticulum. Is expressed in several structures, including central nervous system; peripheral nervous system ganglion; retina; secondary oocyte; and stomach. Used to study Griscelli syndrome type 1. Human ortholog(s) of this gene implicated in Griscelli syndrome type 1. Orthologous to human MYO5A (myosin VA).
MGI Description
PHENOTYPE: Mutations in this gene result in diluted coat color, behavioral deficits including opisthotonus, and postnatal or premature death. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13140
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
    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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      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
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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
          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

          Myo5a molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Myo5a role
            Myo5a genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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