Version: 8.0.0
Date: Tue Jan 28 2025
PAK1
Homo sapiensHGNC:8590
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

PAK1

Species
Homo sapiens
Symbol
PAK1
Name
p21 (RAC1) activated kinase 1
Synonyms
  • alpha-PAK
  • IDDMSSD
Biotype
protein coding gene
Automated Description
Enables several functions, including collagen binding activity; gamma-tubulin binding activity; and identical protein binding activity. Contributes to small GTPase binding activity. Involved in several processes, including hepatocyte growth factor receptor signaling pathway; positive regulation of protein phosphorylation; and positive regulation of supramolecular fiber organization. Acts upstream of or within cell migration. Located in several cellular components, including actin filament; nucleoplasm; and ruffle. Part of protein-containing complex. Implicated in breast cancer; renal cell carcinoma; and schizophrenia. Biomarker of Alzheimer's disease; breast cancer; carcinoma (multiple); and kidney cancer (multiple).
RGD Description
This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR48015
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
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
    No data available

    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
          GRCh38
          Viewer Help
          Data currently unavailable; sequence viewer under construction

          Sequence Details

          Loading...

          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          PAK1 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

            PAK1 role
            PAK1 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