PAK5 Gene (p21 (RAC1) Activated Kinase 5)
PAK5: A Serine/Threonine Kinase Involved in Cytoskeletal Dynamics and Neuronal Development
Gene Information Card
| Symbol | PAK5 |
|---|---|
| Full Name | p21 (RAC1) Activated Kinase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p12.2 |
| NCBI Gene ID | 57144 ncbi.nlm.nih.gov/gene/57144 |
| Ensembl ID | ENSG00000101346 |
| UniProt ID | Q9P286 |
| OMIM ID | 608447 |
| HGNC ID | 15923 |
| Aliases | PAK7, KIAA1264 |
Description
PAK5 (p21 (RAC1) Activated Kinase 5), also known as PAK7, is a member of the group II p21-activated kinases (PAKs). These serine/threonine kinases are effectors of the small GTPases Rac1 and Cdc42. PAK5 plays a critical role in cytoskeletal reorganization, cell motility, and neuronal development. It is involved in regulating dendritic spine morphogenesis and synaptic function. PAK5 has been implicated in various cancers, where it can influence cell proliferation, invasion, and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | PAK5 overexpression or mutation can promote cell proliferation, migration, and invasion through activation of signaling pathways such as MAPK/ERK and JNK. | COSMIC, ClinVar, literature |
| Neurodevelopmental disorders | PAK5 is involved in neuronal development and synaptic plasticity; variants may contribute to intellectual disability or autism spectrum disorders. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Kidney | 5.1 | Low |
| Lung | 3.8 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| HeLa (cervical cancer) | 7.8 | Epithelial cancer |
| MCF7 (breast cancer) | 6.4 | Breast cancer |
| A549 (lung cancer) | 4.1 | Lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | 0.02% | Unknown; located in kinase domain |
| c.1456G>A (p.Glu486Lys) | Missense | 0.01% | Unknown; may affect kinase activity |
| c.1789_1791del (p.Lys597del) | In-frame deletion | 0.005% | Unknown; may alter protein structure |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Some missense mutations in the kinase domain are predicted to increase kinase activity, but functional validation is limited.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RAC1/PAK signaling pathway
• MAPK signaling pathway
• Regulation of actin cytoskeleton
• Axon guidance
Protein Summary
PAK5 is a 719-amino acid serine/threonine kinase with an N-terminal p21-binding domain (PBD) and a C-terminal kinase domain. It binds to and is activated by Rac1 and Cdc42. PAK5 regulates cytoskeletal dynamics by phosphorylating targets such as LIMK1 and myosin light chain. It is highly expressed in the brain and plays a role in dendritic spine formation and synaptic plasticity. PAK5 also localizes to mitochondria and can inhibit apoptosis by phosphorylating BAD.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PAK5 Knockout HEK293 Cell Line | EDJ-KQ1240 | Human | 57144 | Details Get a Quote |
| PAK5 Knockout HeLa Cell Line | EDJ-KQ56813 | Human | 57144 | Details Get a Quote |
| PAK5 Knockout A-549 Cell Line | EDJ-KQ65321 | Human | 57144 | Details Get a Quote |
| PAK5 Knockout HCT 116 Cell Line | EDJ-KQ73757 | Human | 57144 | Details Get a Quote |
