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

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
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77.34M77.36M77.38M77.40M77.42M77.44M77.46M77.48M77.50M77.52M

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

Genetic Interactions