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Aliases for BRSK1 Gene

Aliases for BRSK1 Gene

  • BR Serine/Threonine Kinase 1 2 3 5
  • Brain-Specific Serine/Threonine-Protein Kinase 1 3 4
  • Synapses Of Amphids Defective Homolog 1 3 4
  • Serine/Threonine-Protein Kinase SAD-B 3 4
  • BR Serine/Threonine-Protein Kinase 1 3 4
  • Brain-Selective Kinase 1 3 4
  • SAD1 Homolog 3 4
  • EC 2.7.11.1 4 61
  • HSAD1 3 4
  • Serine/Threonine-Protein Kinase BRSK1 3
  • SadB Kinase Short Isoform 3
  • Protein Kinase SAD1A 3
  • EC 2.7.11.26 4
  • SAD1 Kinase 3
  • EC 2.7.11 61
  • KIAA1811 4
  • SAD1 4
  • SADB 4

External Ids for BRSK1 Gene

Previous GeneCards Identifiers for BRSK1 Gene

  • GC19P060383
  • GC19P060488
  • GC19P055795
  • GC19P052118

Summaries for BRSK1 Gene

GeneCards Summary for BRSK1 Gene

BRSK1 (BR Serine/Threonine Kinase 1) is a Protein Coding gene. Diseases associated with BRSK1 include Lung Large Cell Carcinoma. Among its related pathways are Neuroscience and DNA Damage. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is BRSK2.

UniProtKB/Swiss-Prot for BRSK1 Gene

  • Serine/threonine-protein kinase that plays a key role in polarization of neurons and centrosome duplication. Phosphorylates CDC25B, CDC25C, MAPT/TAU, RIMS1, TUBG1, TUBG2 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at Thr-529 and Ser-579. Also regulates neuron polarization by mediating phosphorylation of WEE1 at Ser-642 in post-mitotic neurons, leading to down-regulate WEE1 activity in polarized neurons. In neurons, localizes to synaptic vesicles and plays a role in neurotransmitter release, possibly by phosphorylating RIMS1. Also acts as a positive regulator of centrosome duplication by mediating phosphorylation of gamma-tubulin (TUBG1 and TUBG2) at Ser-131, leading to translocation of gamma-tubulin and its associated proteins to the centrosome. Involved in the UV-induced DNA damage checkpoint response, probably by inhibiting CDK1 activity through phosphorylation and activation of WEE1, and inhibition of CDC25B and CDC25C.

Gene Wiki entry for BRSK1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRSK1 Gene

Genomics for BRSK1 Gene

Regulatory Elements for BRSK1 Gene

Enhancers for BRSK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G055246 1.7 Ensembl ENCODE dbSUPER 12.4 -28.2 -28214 14.5 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC HSPBP1 TMEM86B NAT14 FIZ1 PPP6R1 BRSK1 TMEM238 RPL28 SYT5 UBE2S
GH19G055337 1.8 FANTOM5 ENCODE dbSUPER 11.2 +57.8 57756 4.0 MLX CREB3L1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 NFYC LENG8-AS1 ENSG00000235681 U2AF2 FAM71E2 KMT5C PPP6R1 ZNF628 TMEM238 IL11 TMEM190
GH19G055086 1.7 FANTOM5 ENCODE dbSUPER 10.2 -194.3 -194254 2.5 HNRNPUL1 HDGF PKNOX1 MLX AGO1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 EPS8L1 ZNF628 U2AF2 PRPF31 ZNF581 LENG8-AS1 PPP1R12C GP6 ENSG00000267523 ENSG00000235681
GH19G055215 1.5 ENCODE dbSUPER 11.5 -65.4 -65368 2.9 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 LENG8-AS1 U2AF2 ENSG00000235681 ENSG00000267523 ZNF580 NAT14 ZNF581 FIZ1 ENSG00000267096 ENSG00000267265
GH19G055519 1.6 FANTOM5 Ensembl ENCODE 10.5 +238.1 238138 1.0 HDGF ATF1 ZNF493 ZNF133 YBX1 GLI4 ZNF416 FOS ZNF548 SP3 FIZ1 ZNF471 NAT14 ZNF580 ZNF667 ZNF582-AS1 ZNF667-AS1 ZNF542P U2AF2 ZNF583
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BRSK1 on UCSC Golden Path with GeneCards custom track

Promoters for BRSK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000111619 -1972 1401 HDGF PKNOX1 CREB3L1 ARNT ZFP64 ARID4B SIN3A ZNF2 YY1 ZNF143

Genomic Location for BRSK1 Gene

Chromosome:
19
Start:
55,282,072 bp from pter
End:
55,312,562 bp from pter
Size:
30,491 bases
Orientation:
Plus strand

Genomic View for BRSK1 Gene

Genes around BRSK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRSK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRSK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BRSK1 Gene

Proteins for BRSK1 Gene

  • Protein details for BRSK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDC3-BRSK1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase BRSK1
    Protein Accession:
    Q8TDC3
    Secondary Accessions:
    • F1DG44
    • Q5J5B5
    • Q8NDD0
    • Q8NDR4
    • Q8TDC2
    • Q96AV4
    • Q96JL4

    Protein attributes for BRSK1 Gene

    Size:
    778 amino acids
    Molecular mass:
    85087 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH16681.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for BRSK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BRSK1 Gene

Selected DME Specific Peptides for BRSK1 Gene

Q8TDC3:
  • TSCGSPHYA
  • VSGGELFDY
  • KPENLLLDE
  • ALDFCHS
  • FRQIVSA
  • LKPENLL
  • RDLKPEN
  • HRDLKPENLLLD
  • WSCGVIL

Post-translational modifications for BRSK1 Gene

  • Phosphorylated at Thr-189 by STK11/LKB1 in complex with STE20-related adapter-alpha (STRADA) pseudo kinase and CAB39. Not phosphorylated at Thr-189 by CaMKK2. In contrast, it is phosphorylated and activated by CaMKK1. May be inactivated via dephosphorylation of Thr-189 by PP2C.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for BRSK1 Gene

Gene Families for BRSK1 Gene

Suggested Antigen Peptide Sequences for BRSK1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TDC3

UniProtKB/Swiss-Prot:

BRSK1_HUMAN :
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily.
genes like me logo Genes that share domains with BRSK1: view

Function for BRSK1 Gene

Molecular function for BRSK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [tau protein] = ADP + [tau protein] phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by phosphorylation on Thr-189 by STK11/LKB1.
UniProtKB/Swiss-Prot Function:
Serine/threonine-protein kinase that plays a key role in polarization of neurons and centrosome duplication. Phosphorylates CDC25B, CDC25C, MAPT/TAU, RIMS1, TUBG1, TUBG2 and WEE1. Following phosphorylation and activation by STK11/LKB1, acts as a key regulator of polarization of cortical neurons, probably by mediating phosphorylation of microtubule-associated proteins such as MAPT/TAU at Thr-529 and Ser-579. Also regulates neuron polarization by mediating phosphorylation of WEE1 at Ser-642 in post-mitotic neurons, leading to down-regulate WEE1 activity in polarized neurons. In neurons, localizes to synaptic vesicles and plays a role in neurotransmitter release, possibly by phosphorylating RIMS1. Also acts as a positive regulator of centrosome duplication by mediating phosphorylation of gamma-tubulin (TUBG1 and TUBG2) at Ser-131, leading to translocation of gamma-tubulin and its associated proteins to the centrosome. Involved in the UV-induced DNA damage checkpoint response, probably by inhibiting CDK1 activity through phosphorylation and activation of WEE1, and inhibition of CDC25B and CDC25C.

Enzyme Numbers (IUBMB) for BRSK1 Gene

Gene Ontology (GO) - Molecular Function for BRSK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 14976552
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IDA,IEA 15150265
GO:0005524 ATP binding IC 15150265
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with BRSK1: view
genes like me logo Genes that share phenotypes with BRSK1: view

Animal Models for BRSK1 Gene

MGI Knock Outs for BRSK1:

Animal Model Products

  • Taconic Biosciences Mouse Models for BRSK1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BRSK1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BRSK1 Gene

Localization for BRSK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRSK1 Gene

Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, synapse. Note=Localizes to synaptic vesicles in neurons (By similarity). Nuclear in the absence of DNA damage. Translocated to the nucleus in response to UV- or MMS-induced DNA damage. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BRSK1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 3
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BRSK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 15150265
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 15150265
GO:0005813 centrosome IBA,ISS --
GO:0005815 microtubule organizing center IEA --
genes like me logo Genes that share ontologies with BRSK1: view

Pathways & Interactions for BRSK1 Gene

genes like me logo Genes that share pathways with BRSK1: view

Pathways by source for BRSK1 Gene

3 Cell Signaling Technology pathways for BRSK1 Gene
1 BioSystems pathway for BRSK1 Gene

SIGNOR curated interactions for BRSK1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for BRSK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IDA 15150265
GO:0006974 cellular response to DNA damage stimulus IDA,IEA 15150265
GO:0007049 cell cycle IEA --
GO:0007269 neurotransmitter secretion ISS --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with BRSK1: view

Drugs & Compounds for BRSK1 Gene

(3) Drugs for BRSK1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sumatriptan Approved, Investigational Pharma Full agonist, Agonist 5-HT1 receptor agonist 101
Adenosine triphosphate Approved Nutra 0
Magnesium Nutra 0

(1) Additional Compounds for BRSK1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with BRSK1: view

Transcripts for BRSK1 Gene

Unigene Clusters for BRSK1 Gene

BR serine/threonine kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for BRSK1

Alternative Splicing Database (ASD) splice patterns (SP) for BRSK1 Gene

No ASD Table

Relevant External Links for BRSK1 Gene

GeneLoc Exon Structure for
BRSK1
ECgene alternative splicing isoforms for
BRSK1

Expression for BRSK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BRSK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BRSK1 Gene

This gene is overexpressed in Brain - Cortex (x6.3), Brain - Frontal Cortex (BA9) (x5.0), Brain - Anterior cingulate cortex (BA24) (x5.0), and Brain - Hippocampus (x4.4).

Protein differential expression in normal tissues from HIPED for BRSK1 Gene

This gene is overexpressed in Brain (44.0), Fetal Brain (6.8), and Serum (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BRSK1 Gene



Protein tissue co-expression partners for BRSK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BRSK1 Gene:

BRSK1

SOURCE GeneReport for Unigene cluster for BRSK1 Gene:

Hs.182081

mRNA Expression by UniProt/SwissProt for BRSK1 Gene:

Q8TDC3-BRSK1_HUMAN
Tissue specificity: Widely expressed, with highest levels in brain and testis. Protein levels remain constant throughout the cell cycle.

Evidence on tissue expression from TISSUES for BRSK1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with BRSK1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BRSK1 Gene

Orthologs for BRSK1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BRSK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BRSK1 35
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BRSK1 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BRSK1 34 35
  • 92.84 (n)
cow
(Bos Taurus)
Mammalia BRSK1 34 35
  • 92.77 (n)
mouse
(Mus musculus)
Mammalia Brsk1 34 16 35
  • 91.17 (n)
rat
(Rattus norvegicus)
Mammalia Brsk1 34
  • 90.96 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 25 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia BRSK1 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brsk1 34
  • 71.52 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC558390 34
  • 70.81 (n)
BRSK1 (1 of 2) 35
  • 67 (a)
OneToMany
BRSK1 (2 of 2) 35
  • 67 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta sff 35
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sad-1 35
  • 42 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KCC4 35
  • 21 (a)
ManyToMany
GIN4 35 37
  • 19 (a)
ManyToMany
HSL1 35
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToMany
Species where no ortholog for BRSK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BRSK1 Gene

ENSEMBL:
Gene Tree for BRSK1 (if available)
TreeFam:
Gene Tree for BRSK1 (if available)

Paralogs for BRSK1 Gene

Paralogs for BRSK1 Gene

genes like me logo Genes that share paralogs with BRSK1: view

Variants for BRSK1 Gene

Sequence variations from dbSNP and Humsavar for BRSK1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs144130246 A gastric adenocarcinoma sample 55,302,746(+) GCCGC(C/T)GGGTA nc-transcript-variant, reference, missense
VAR_040395 A lung large cell carcinoma sample
VAR_040396 A metastatic melanoma sample
rs1000039644 -- 55,290,791(+) CGCCC(A/G)CCACC intron-variant
rs1000166595 -- 55,304,602(+) CTCGA(G/T)GCGGG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for BRSK1 Gene

Variant ID Type Subtype PubMed ID
esv1551083 CNV insertion 17803354
esv3644838 CNV loss 21293372
nsv1136290 CNV deletion 24896259
nsv953624 CNV deletion 24416366

Variation tolerance for BRSK1 Gene

Residual Variation Intolerance Score: 5.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.83; 58.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BRSK1 Gene

Human Gene Mutation Database (HGMD)
BRSK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRSK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRSK1 Gene

Disorders for BRSK1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BRSK1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
lung large cell carcinoma
  • large cell carcinoma of lung
- elite association - COSMIC cancer census association via MalaCards
Search BRSK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BRSK1

Genetic Association Database (GAD)
BRSK1
Human Genome Epidemiology (HuGE) Navigator
BRSK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BRSK1
genes like me logo Genes that share disorders with BRSK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BRSK1 Gene

Publications for BRSK1 Gene

  1. LKB1 is a master kinase that activates 13 kinases of the AMPK subfamily, including MARK/PAR-1. (PMID: 14976552) Lizcano J.M. … Alessi D.R. (EMBO J. 2004) 2 3 4 64
  2. Human SAD1 kinase is involved in UV-induced DNA damage checkpoint function. (PMID: 15150265) Lu R. … Nakanishi M. (J. Biol. Chem. 2004) 3 4 22 64
  3. Phosphorylation of microtubule-associated protein tau by AMPK-related kinases. (PMID: 21985311) Yoshida H. … Goedert M. (J. Neurochem. 2012) 3 4 64
  4. Loci at chromosomes 13, 19 and 20 influence age at natural menopause. (PMID: 19448619) Stolk L. … Uitterlinden A.G. (Nat. Genet. 2009) 3 46 64
  5. Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. (PMID: 19448621) He C. … Chasman D.I. (Nat. Genet. 2009) 3 46 64

Products for BRSK1 Gene

  • Addgene plasmids for BRSK1

Sources for BRSK1 Gene

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