Version: 8.0.0
Date: Tue Jan 28 2025
TOPORS
Homo sapiensHGNC:21653
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

TOPORS

Species
Homo sapiens
Symbol
TOPORS
Name
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
Synonyms
  • E3 ubiquitin-protein ligase Topors
  • LUN
Biotype
protein coding gene
Automated Description
Enables several functions, including DNA topoisomerase binding activity; antigen binding activity; and ubiquitin-like protein transferase activity. Involved in several processes, including intrinsic apoptotic signaling pathway in response to DNA damage; maintenance of protein location in nucleus; and protein modification by small protein conjugation. Located in microtubule cytoskeleton; nuclear body; and photoreceptor connecting cilium. Part of gamma-tubulin complex and ubiquitin ligase complex. Implicated in retinitis pigmentosa 31.
RGD Description
This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46077
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

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

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