Pak1 - SNV Details



 Gene Information 
Gene Name Pak1
Old Gene Names for Pak1 Aw045634 , Paka
Gene Description p21 protein (Cdc42/Rac)-activated kinase 1 [Source:MGI Symbol;Acc:MGI:1339975]
MGI phenotype Mice homozygous for a knock-out allele display defects in allergen-induced mast cell migration and degranulation.
Uniprot Name
CCDS Name
Gene GO
negative regulation of cell proliferation involved in contact inhibition; branching morphogenesis of an epithelial tube; intracellular signal transduction; protein kinase activity; positive regulation of intracellular estrogen receptor signaling pathway; membrane; protein autophosphorylation; actin cytoskeleton organization; cytoplasm; positive regulation of protein phosphorylation; neuromuscular junction development; axonogenesis; response to organic substance; positive regulation of JUN kinase activity; actin cytoskeleton reorganization; dendrite development; positive regulation of peptidyl-serine phosphorylation; wound healing; transferase activity
transferring phosphorus-containing groups; response to hypoxia; protein complex; cell-cell junction; protein binding; ruffle; actin filament organization; nucleus; axon; regulation of actin cytoskeleton organization; intercalated disc; cytosol; Z disc; protein phosphorylation; growth cone; neuron projection morphogenesis; protein tyrosine kinase activity; ATP binding; plasma membrane; receptor signaling protein serine/threonine kinase activity; dendrite; receptor clustering; protein kinase binding; cellular response to insulin stimulus; focal adhesion; protein serine/threonine kinase activity; Golgi apparatus; positive regulation of stress fiber assembly; nuclear membrane; collagen binding; signal transduction by phosphorylation
Homolog in other species PAK1
Omim http://omim.org/entry/601032
Immgen Expression
LOW(HIGH IN MYELOID GOUP, DC8+.TH, DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030774
Chromosome 7
Coordinate 97,894,002     (Assembly: GRCm38)    
Ref Base A
Var Base C
Zygosity Heterozygous
Read Depth 30
Allele Frequency
A:R0.63
C:V0.37
Amino Acid Change T->P (Threonine -> Proline)
Sample ID IGL02678
Median Base Quality 40
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved