Version: 8.0.0
Date: Tue Jan 28 2025
Pqbp1
Mus musculusMGI:1859638
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Pqbp1

Species
Mus musculus
Symbol
Pqbp1
Name
polyglutamine binding protein 1
Synonyms
  • scurfy candidate 2
  • Sfc2
Biotype
protein coding gene
Automated Description
Predicted to enable GTPase binding activity; double-stranded DNA binding activity; and ribonucleoprotein complex binding activity. Involved in alternative mRNA splicing, via spliceosome and neuron projection development. Acts upstream of or within regulation of dendrite morphogenesis. Located in cytoplasmic stress granule; neuronal ribonucleoprotein granule; and nuclear speck. Is expressed in several structures, including adrenal cortex; alimentary system; brain; eye; and skin. Used to study Renpenning syndrome. Human ortholog(s) of this gene implicated in Renpenning syndrome. Orthologous to human PQBP1 (polyglutamine binding protein 1).
MGI Description
Not Available
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR21737
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

          Pqbp1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Pqbp1 role
            Pqbp1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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