RAC3 Gene: Ras-Related C3 Botulinum Toxin Substrate 3
A Rho GTPase involved in cell signaling, cytoskeletal dynamics, and neurodevelopment
Gene Information Card
| Symbol | RAC3 |
|---|---|
| Full Name | Rac family small GTPase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 5881 ncbi.nlm.nih.gov/gene/5881 |
| Ensembl ID | ENSG00000169710 |
| UniProt ID | P60763 |
| OMIM ID | 602049 |
| HGNC ID | 9802 |
| Aliases | Rac3, MGC111543 |
Description
RAC3 is a member of the Rho family of small GTPases, which function as molecular switches regulating intracellular signaling pathways. It controls cytoskeletal reorganization, cell migration, adhesion, and gene expression. RAC3 is highly expressed in the brain and plays a critical role in neuronal development and synaptic plasticity. Mutations and dysregulation of RAC3 are implicated in neurodevelopmental disorders and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and structural brain anomalies | Gain-of-function mutations in RAC3 lead to altered GTPase activity and downstream signaling, disrupting neuronal migration and cortical development | ClinVar, OMIM |
| Breast cancer | RAC3 overexpression and hyperactivation promote cell proliferation, invasion, and metastasis via PI3K/AKT and MAPK pathways | COSMIC, NCBI |
| Lung cancer | RAC3 amplification and activating mutations contribute to tumor growth and resistance to therapy | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Heart | 12.8 | Medium |
| Liver | 3.1 | Low |
| Kidney | 8.5 | Medium |
| Lung | 6.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 32.1 | Embryonic kidney cells; high expression |
| SH-SY5Y | 58.4 | Neuroblastoma cells; very high expression |
| MCF7 | 22.3 | Breast cancer cells; moderate expression |
| A549 | 15.6 | Lung cancer cells; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.83C>T (p.Pro28Leu) | Missense | Rare | Gain-of-function; increased GTP binding and downstream signaling |
| c.151G>A (p.Glu51Lys) | Missense | Rare | Gain-of-function; altered effector interaction |
| c.191A>G (p.Tyr64Cys) | Missense | Rare | Gain-of-function; impaired GTP hydrolysis |
Mutation functional classification
Loss of Function (LOF)
Not commonly reported; loss-of-function variants are rare and may be associated with reduced cell motility.
Gain of Function (GOF)
Common in neurodevelopmental disorders and cancers; mutations increase GTP-bound active state, enhancing signaling through PAK, JNK, and NF-κB pathways.
Dominant Negative (DN)
Not well characterized for RAC3; dominant-negative mutants typically impair normal RAC3 function by sequestering upstream activators.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RAC3/PI3K/AKT signaling pathway
• RAC3/PAK/JNK signaling cascade
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Axon guidance (KEGG: hsa04360)
• Fc gamma R-mediated phagocytosis (KEGG: hsa04666)
Protein Summary
RAC3 is a 21.6 kDa protein (192 amino acids) belonging to the Rho family of small GTPases. It cycles between an inactive GDP-bound and active GTP-bound state. The active form interacts with multiple effectors such as PAK, PI3K, and WASP to regulate cytoskeletal dynamics, cell polarity, and gene transcription. RAC3 is highly expressed in the nervous system and is essential for proper brain development. Structural studies show a conserved GTPase domain with switch I and switch II regions critical for nucleotide binding and effector recognition.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RAC3 Knockout HEK293 Cell Line | EDJ-KQ1238 | Human | 5881 | Details Get a Quote |
| RAC3 Knockout HCT 116 Cell Line | EDJ-KQ20588 | Human | 5881 | Details Get a Quote |
| RAC3 Knockout HeLa Cell Line | EDJ-KQ20589 | Human | 5881 | Details Get a Quote |
| RAC3 Knockout A-549 Cell Line | EDJ-KQ62783 | Human | 5881 | Details Get a Quote |
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