BRSK1
Serine/threonine-protein kinase BRSK1
Also known as: BRSK1_HUMAN, KIAA1811, SAD-B
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TDC3
- Gene
- BRSK1
- Ensembl
- ENSG00000160469
- Chromosome
- 19
- Canonical length
- 778 aa
- Protein class
- Enzymes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Cell Junctions
OverviewNCBI Gene
Enables magnesium ion binding activity and protein serine/threonine kinase activity. Involved in mitotic G2 DNA damage checkpoint signaling and protein phosphorylation. Acts upstream of or within G2/M transition of mitotic cell cycle; peptidyl-serine phosphorylation; and response to UV. Located in cell junction; cytoplasm; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
778 residues, UniProt reviewed canonical sequence.
>Q8TDC3|BRSK1
1 MSSGAKEGGG GSPAYHLPHP HPHPPQHAQY VGPYRLEKTL GKGQTGLVKL GVHCITGQKV
61 AIKIVNREKL SESVLMKVER EIAILKLIEH PHVLKLHDVY ENKKYLYLVL EHVSGGELFD
121 YLVKKGRLTP KEARKFFRQI VSALDFCHSY SICHRDLKPE NLLLDEKNNI RIADFGMASL
181 QVGDSLLETS CGSPHYACPE VIKGEKYDGR RADMWSCGVI LFALLVGALP FDDDNLRQLL
241 EKVKRGVFHM PHFIPPDCQS LLRGMIEVEP EKRLSLEQIQ KHPWYLGGKH EPDPCLEPAP
301 GRRVAMRSLP SNGELDPDVL ESMASLGCFR DRERLHRELR SEEENQEKMI YYLLLDRKER
361 YPSCEDQDLP PRNDVDPPRK RVDSPMLSRH GKRRPERKSM EVLSITDAGG GGSPVPTRRA
421 LEMAQHSQRS RSVSGASTGL SSSPLSSPRS PVFSFSPEPG AGDEARGGGS PTSKTQTLPS
481 RGPRGGGAGE QPPPPSARST PLPGPPGSPR SSGGTPLHSP LHTPRASPTG TPGTTPPPSP
541 GGGVGGAAWR SRLNSIRNSF LGSPRFHRRK MQVPTAEEMS SLTPESSPEL AKRSWFGNFI
601 SLDKEEQIFL VLKDKPLSSI KADIVHAFLS IPSLSHSVLS QTSFRAEYKA SGGPSVFQKP
661 VRFQVDISSS EGPEPSPRRD GSGGGGIYSV TFTLISGPSR RFKRVVETIQ AQLLSTHDQP
721 SVQALADEKN GAQTRPAGAP PRSLQPPPGR PDPELSSSPR RGPPKDKKLL ATNGTPLPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BRSK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 191 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 191 nTPM
- hippocampal formation: 150 nTPM
- amygdala: 125 nTPM
- cerebellum: 112 nTPM
- basal ganglia: 93 nTPM
- hypothalamus: 86 nTPM
Single-cell type
- oligodendrocytes: 62 nCPM
- brain inhibitory neurons: 46 nCPM
- brain excitatory neurons: 44 nCPM
- oligodendrocyte progenitor cells: 40 nCPM
- retinal amacrine cells: 38 nCPM
- other brain neurons: 32 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 337 nTPM
- hippocampal formation: 261 nTPM
- white matter: 259 nTPM
- basal ganglia: 199 nTPM
- thalamus: 198 nTPM
- amygdala: 196 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BRSK1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 91 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- BRSK1-associated neurodevelopmental disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.21
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.94
- DepMap mean gene effect
- 0.08
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- associative learning
- axonogenesis
- central nervous system neuron differentiation
- centrosome duplication
- DNA damage response
- establishment of cell polarity
- G2/M transition of mitotic cell cycle
- microtubule cytoskeleton organization involved in establishment of planar polarity
- mitotic G2 DNA damage checkpoint signaling
- neuron differentiation
- neurotransmitter secretion
- peptidyl-serine phosphorylation
- protein phosphorylation
- regulation of axonogenesis
- regulation of neuron projection development
- regulation of synaptic plasticity
- regulation of synaptic vesicle clustering
- regulation of synaptic vesicle priming
- response to UV
- synaptic vesicle cycle
Molecular functions
- ATP binding
- gamma-tubulin binding
- magnesium ion binding
- protein kinase binding
- protein serine kinase activity
- protein serine/threonine kinase activity
- tau protein binding
- tau-protein kinase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BRSK1 as an antibody target. Whether an autoantibody or antibody against BRSK1 could matter depends on whether native BRSK1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BRSK1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BRSK1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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