Version: 8.0.0
Date: Tue Jan 28 2025
JAG1
Homo sapiensHGNC:6188
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

JAG1

Species
Homo sapiens
Symbol
JAG1
Name
jagged canonical Notch ligand 1
Synonyms
  • AGS
  • AGS1
Biotype
protein coding gene
Automated Description
Enables Notch binding activity; molecular adaptor activity; and phospholipid binding activity. Involved in several processes, including circulatory system development; negative regulation of cell adhesion; and neuronal stem cell population maintenance. Located in plasma membrane. Implicated in Alagille syndrome; Charcot-Marie-Tooth disease; congenital heart disease; multiple sclerosis; and tetralogy of Fallot. Biomarker of hepatocellular carcinoma; multiple sclerosis; osteoarthritis; and temporal arteritis.
RGD Description
The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24049
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
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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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      Has Phenotype Annotations
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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
          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

          JAG1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            JAG1 role
            JAG1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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