Version: 8.0.0
Date: Tue Jan 28 2025
PRKN
Homo sapiensHGNC:8607
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

PRKN

Species
Homo sapiens
Symbol
PRKN
Name
parkin RBR E3 ubiquitin protein ligase
Synonyms
  • AR-JP
  • E3 ubiquitin ligase
Biotype
protein coding gene
Automated Description
Enables several functions, including cytoskeletal protein binding activity; enzyme binding activity; and protein domain specific binding activity. Involved in several processes, including protein ubiquitination; regulation of macromolecule metabolic process; and regulation of signal transduction. Acts upstream of or within negative regulation of glucokinase activity and negative regulation of insulin secretion. Located in several cellular components, including aggresome; mitochondrion-derived vesicle; and nuclear speck. Part of Parkin-FBXW7-Cul1 ubiquitin ligase complex. Implicated in Parkinson's disease; Parkinson's disease 2; lung cancer; and ovarian cancer. Biomarker of Alzheimer's disease; Lewy body dementia; Parkinson's disease; cervical cancer; and multiple sclerosis.
RGD Description
The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11685
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

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

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