Version: 8.0.0
Date: Tue Jan 28 2025
MYOZ1
Homo sapiensHGNC:13752
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

MYOZ1

Species
Homo sapiens
Symbol
MYOZ1
Name
myozenin 1
Synonyms
  • calsarcin-2
  • CS-2
Biotype
protein coding gene
Automated Description
Enables FATZ binding activity; actinin binding activity; and molecular condensate scaffold activity. Predicted to be involved in several processes, including negative regulation of calcineurin-NFAT signaling cascade; negative regulation of skeletal muscle tissue regeneration; and sarcomere organization. Predicted to act upstream of or within with a positive effect on skeletal muscle fiber adaptation. Predicted to be located in nucleus and pseudopodium. Predicted to be active in Z disc and actin cytoskeleton.
RGD Description
The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR15941
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
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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
    Evidence
    Source
    Based On
    References
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      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
            GRCh38
            Viewer Help
            73.632M73.633M73.634M73.635M73.636M73.637M73.638M73.639M73.640M73.641M

            Sequence Details

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            Expression

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

            Molecular Interactions

            MYOZ1 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
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              Genetic Interactions

              MYOZ1 role
              MYOZ1 genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
              Reference
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