Version: 8.0.0
Date: Tue Jan 28 2025
CDK5R1
Homo sapiensHGNC:1775
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CDK5R1

Species
Homo sapiens
Symbol
CDK5R1
Name
cyclin dependent kinase 5 regulatory subunit 1
Synonyms
  • CDK5 activator 1
  • CDK5P35
Biotype
protein coding gene
Automated Description
Enables cyclin-dependent protein serine/threonine kinase activator activity and protein kinase binding activity. Involved in positive regulation of signaling receptor activity; protein phosphorylation; and regulation of macromolecule biosynthetic process. Located in nucleoplasm and perinuclear region of cytoplasm. Part of cyclin-dependent protein kinase holoenzyme complex and protein kinase 5 complex. Implicated in Alzheimer's disease. Biomarker of Alzheimer's disease.
RGD Description
The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23401
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
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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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        Models

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        Experimental condition
        Associated Human Diseases
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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

          CDK5R1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
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            Genetic Interactions

            CDK5R1 role
            CDK5R1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
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