Version: 8.0.0
Date: Tue Jan 28 2025
DAG1
Homo sapiensHGNC:2666
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

DAG1

Species
Homo sapiens
Symbol
DAG1
Name
dystroglycan 1
Synonyms
  • 156DAG
  • A3a
Biotype
protein coding gene
Automated Description
Enables SH2 domain binding activity; cytoskeletal protein binding activity; and virus receptor activity. A structural constituent of muscle. Involved in several processes, including membrane protein ectodomain proteolysis; negative regulation of intracellular signal transduction; and regulation of embryonic development. Located in several cellular components, including filopodium; focal adhesion; and lamellipodium. Part of dystrophin-associated glycoprotein complex. Implicated in bronchopulmonary dysplasia; inclusion body myositis; and muscular dystrophy (multiple). Biomarker of Duchenne muscular dystrophy and Fukuyama congenital muscular dystrophy.
RGD Description
This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR21559
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
    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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      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
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          Data currently unavailable; sequence viewer under construction

          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

          DAG1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            DAG1 role
            DAG1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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