BRSK1 (BR Serine/Threonine Kinase 1)
A key regulator of neuronal polarization and cell cycle progression
Gene Information Card
| Symbol | BRSK1 |
|---|---|
| Full Name | BR serine/threonine kinase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 84446 ncbi.nlm.nih.gov/gene/84446 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | Q8TDC3 |
| OMIM ID | 609197 |
| HGNC ID | 18994 |
| Aliases | SAD1, SAD-B, hSAD1, KIAA1811 |
Description
BRSK1 (BR serine/threonine kinase 1) encodes a member of the AMPK-related family of serine/threonine kinases. The protein is essential for neuronal polarization, regulating axon formation and dendrite specification. It also plays roles in cell cycle control, centrosome duplication, and DNA damage response. BRSK1 is activated by phosphorylation via LKB1 and CaMKK2.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression and amplification; potential oncogenic role in cell cycle progression | COSMIC; NCBI Gene |
| Colorectal cancer | Somatic mutations and copy number alterations observed | COSMIC |
| Neurodevelopmental disorders | Impaired neuronal polarization due to loss-of-function variants | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 6.8 | Medium |
| Breast | 4.2 | Medium |
| Colon | 3.1 | Low |
| Liver | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| MCF7 (breast cancer) | 8.7 | Moderate expression |
| HEK293 (embryonic kidney) | 5.3 | Moderate expression |
| HCT116 (colorectal cancer) | 4.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.1789_1790insA (p.Thr597Asnfs*2) | Frameshift | <0.01% | Loss of function; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the kinase domain, impairing neuronal polarization and cell cycle regulation.
Gain of Function (GOF)
Not well characterized; some missense variants may increase kinase activity but evidence is limited.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • neuronal axonogenesis | • cell cycle |
| • centrosome duplication | • DNA damage response |
| • signal transduction |
Pathways
• LKB1 signaling
• AMPK-related kinase cascade
• Neuronal polarization pathway
Protein Summary
BRSK1 is a 778-amino-acid serine/threonine kinase with an N-terminal kinase domain and a C-terminal regulatory region. It is activated by LKB1-mediated phosphorylation at Thr189. The protein localizes to the cytoplasm and centrosomes, where it phosphorylates substrates involved in microtubule dynamics and cell polarity. BRSK1 is highly expressed in the brain and testis, with moderate levels in breast and colon tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRSK1 Knockout HEK293 Cell Line | EDJ-KQ2166 | Human | 84446 | Details Get a Quote |
| BRSK1 Knockout A-549 Cell Line | EDJ-KQ22373 | Human | 84446 | Details Get a Quote |
| BRSK1 Knockout HCT 116 Cell Line | EDJ-KQ22374 | Human | 84446 | Details Get a Quote |
| BRSK1 Knockout HeLa Cell Line | EDJ-KQ22375 | Human | 84446 | Details Get a Quote |
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