Version: 8.0.0
Date: Tue Jan 28 2025
Gmppa
Mus musculusMGI:1916330
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Gmppa

Species
Mus musculus
Symbol
Gmppa
Name
GDP-mannose pyrophosphorylase A
Synonyms
  • 1810012N01Rik
  • RIKEN cDNA 1810012N01 gene
Biotype
protein coding gene
Automated Description
Predicted to enable enzyme regulator activity and molecular sensor activity. Involved in negative regulation of metabolic process. Acts upstream of or within several processes, including GDP-mannose biosynthetic process; motor behavior; and protein glycosylation. Predicted to be part of GDP-mannose pyrophosphorylase complex. Predicted to be active in cytosol. Is expressed in several structures, including adrenal gland; alimentary system; central nervous system; eye; and gonad. Used to study alacrima, achalasia, and impaired intellectual development syndrome. Human ortholog(s) of this gene implicated in alacrima, achalasia, and impaired intellectual development syndrome. Orthologous to human GMPPA (GDP-mannose pyrophosphorylase A).
MGI Description
PHENOTYPE: Mice homozygous for a null allele exhibit cortical layer defects, progressive neuron loss, myopathic alterations, progressive muscle weakness, cognitive impairments, and increased serum mannose levels. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR22572
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
Other Sources
Phenotype Term
Annotation details
References
No records match query. Try removing filters.
Showing 0 - 0 of 0 rows
per page

    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
    No records match query. Try removing filters.
    Showing 0 - 0 of 0 rows
    per page

      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
      Has Phenotype Annotations
      No records match query. Try removing filters.
      Showing 0 - 0 of 0 rows
      per page
        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
        No records match query. Try removing filters.
        Showing 0 - 0 of 0 rows
        per page

          Models

          Model name
          Experimental condition
          Associated Human Diseases
          Associated Phenotypes
          Modifier
          Source
          No records match query. Try removing filters.
          Showing 0 - 0 of 0 rows
          per page

            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCm39
            Viewer Help
            75.413M75.414M75.415M75.416M75.417M75.418M75.419M

            Sequence Details

            Loading...

            Expression

            Primary Sources
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            Gmppa molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
            No records match query. Try removing filters.
            Showing 0 - 0 of 0 rows
            per page

              Genetic Interactions

              Gmppa role
              Gmppa genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
              Reference
              No records match query. Try removing filters.
              Showing 0 - 0 of 0 rows
              per page