BRK1 Gene - BRICK1 Subunit of SCAR/WAVE Actin Nucleation Complex
Essential regulator of actin cytoskeleton dynamics and cell motility
Gene Information Card
| Symbol | BRK1 |
|---|---|
| Full Name | BRICK1, SCAR/WAVE Actin Nucleation Complex Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 55845 ncbi.nlm.nih.gov/gene/55845 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q8WUW1 |
| OMIM ID | 611183 |
| HGNC ID | 24287 |
| Aliases | BRICK1, HSPC300, C3orf10, MDS027 |
Description
BRK1 encodes a component of the SCAR/WAVE actin nucleation complex, which regulates actin polymerization and cytoskeletal reorganization. The protein is essential for cell motility, morphogenesis, and vesicle trafficking. BRK1 interacts with WAVE1, WAVE2, and other complex subunits to activate the Arp2/3 complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and brain malformations | Loss-of-function mutations in BRK1 disrupt WAVE complex assembly, impairing neuronal migration and cortical development | ClinVar, OMIM |
| Cancer (various) | Altered BRK1 expression affects cell migration and invasion; somatic mutations reported in colorectal and lung cancers | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Moderate expression |
| A549 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.208C>T (p.Arg70Trp) | Missense | Rare | Impaired WAVE complex binding |
| c.334_335del (p.Leu112fs) | Frameshift | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated or absent BRK1 protein, disrupting WAVE complex integrity and actin nucleation.
Gain of Function (GOF)
Not reported for BRK1.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg70Trp) may produce a defective protein that interferes with WAVE complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • Actin cytoskeleton organization | • Arp2/3 complex-mediated actin nucleation |
| • Cell migration | • Regulation of cell shape |
| • WAVE complex |
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• WAVE complex pathway (Reactome: R-HSA-5663222)
Protein Summary
BRK1 is a 75-amino acid protein that forms a stable subcomplex with CYFIP1/2 and NCKAP1 within the SCAR/WAVE complex. It stabilizes the complex and is required for Rac1-induced actin polymerization. Loss of BRK1 leads to defective lamellipodia formation and impaired cell migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRK1 Knockout HEK293 Cell Line | EDJ-KQ2114 | Human | 55845 | Details Get a Quote |
| BRK1 Knockout A-549 Cell Line | EDJ-KQ22246 | Human | 55845 | Details Get a Quote |
| BRK1 Knockout HCT 116 Cell Line | EDJ-KQ22247 | Human | 55845 | Details Get a Quote |
| BRK1 Knockout HeLa Cell Line | EDJ-KQ22248 | Human | 55845 | Details Get a Quote |
