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BRSK1 Gene

protein-coding   GIFtS: 62
GCID: GC19P055795

BR Serine/Threonine Kinase 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BR Serine/Threonine Kinase 11 2     KIAA18113 5
Brain-Selective Kinase 12 3     Protein Kinase SAD1A2
Brain-Specific Serine/Threonine-Protein Kinase 12 3     SAD1 Kinase2
Serine/Threonine-Protein Kinase SAD-B2 3     SadB Kinase Short Isoform2
Synapses Of Amphids Defective Homolog 12 3     Serine/Threonine-Protein Kinase BRSK12
BR Serine/Threonine-Protein Kinase 12 3     EC 2.7.11.263
hSAD12 3     SAD13
SAD1 Homolog2 3     SADB3
EC 2.7.11.13 8     EC 2.7.118

External Ids:    HGNC: 189941   Entrez Gene: 844462   Ensembl: ENSG000001604697   OMIM: 6092355   UniProtKB: Q8TDC33   

Export aliases for BRSK1 gene to outside databases

Previous GC identifers: GC19P060383 GC19P060488 GC19P052118


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for BRSK1 Gene:
BRSK1 (BR serine/threonine kinase 1) is a protein-coding gene. GO annotations related to this gene include protein serine/threonine kinase activity and magnesium ion binding. An important paralog of this gene is MARK1.

UniProtKB/Swiss-Prot: BRSK1_HUMAN, Q8TDC3
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

Gene Wiki entry for BRSK1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BRSK1 gene promoter:
         Spz1   p300   MyoD   LUN-1   Arnt   Roaz   C/EBPalpha   PPAR-gamma1   Cart-1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): BRSK1 promoter sequence
   Search Chromatin IP Primers for BRSK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BRSK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.4   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.4

BRSK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BRSK1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P055795:  view genomic region     (about GC identifiers)

Start:
55,793,440 bp from pter      End:
55,823,930 bp from pter
Size:
30,491 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BRSK1_HUMAN, Q8TDC3 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase BRSK1  
Size: 778 amino acids; 85087 Da
Cofactor: Magnesium (By similarity)
Sequence caution: Sequence=AAH16681.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: F1DG44 Q5J5B5 Q8NDD0 Q8NDR4 Q8TDC2 Q96AV4 Q96JL4
Alternative splicing: 3 isoforms:  Q8TDC3-1   Q8TDC3-2   Q8TDC3-3   

Explore the universe of human proteins at neXtProt for BRSK1: NX_Q8TDC3

Explore proteomics data for BRSK1 at MOPED

Post-translational modifications: 

  • 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 PP2C1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BRSK1 (Q8TDC3) (see all 9)
     FRQIVSA  WSCGVIL  LKPENLL  RDLKPEN 


    See BRSK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115806.1  
    ENSEMBL proteins: 
     ENSP00000468190   ENSP00000466755   ENSP00000310649   ENSP00000467357   ENSP00000466380  
     ENSP00000320853  

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    antibodies-online proteins for BRSK1 (5 products) 

     
    antibodies-online peptides for BRSK1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: BR serine/threonine kinase 1
    BRSK subfamily

    Selected InterPro protein domains (see all 6):
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry Q8TDC3

    ProtoNet protein and cluster: Q8TDC3

    UniProtKB/Swiss-Prot: BRSK1_HUMAN, Q8TDC3
    Similarity: Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 1 UBA domain


    Find genes that share domains with BRSK1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BRSK1_HUMAN, Q8TDC3
    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
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Catalytic activity: ATP + [tau protein] = ADP + [tau protein] phosphate
    Enzyme regulation: Activated by phosphorylation on Thr-189 by STK11/LKB1

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112 EC 2.7.11.261

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA14976552
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA15150265
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding ----
         
    Find genes that share ontologies with BRSK1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for BRSK1:
     Decreased focal adhesion (FA)   Decreased substrate adherent c 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Brsk1):
     behavior/neurological  cellular  integument  mortality/aging  nervous system 
     normal 

    Find genes that share phenotypes with BRSK1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Brsk1tm1Jrs for BRSK1

       genOway: Develop your customized and physiologically relevant rodent model for BRSK1

    miRNA
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    miRTarBase miRNAs that target BRSK1:
    hsa-mir-339-5p (MIRT042770)

    Block miRNA regulation of human, mouse, rat BRSK1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BRSK1 (see all 22):
    hsa-miR-146b-3p hsa-miR-513a-5p hsa-miR-3678-5p hsa-miR-128 hsa-miR-339-5p hsa-miR-1205 hsa-miR-10b* hsa-miR-3121-3p
    SwitchGear 3'UTR luciferase reporter plasmidBRSK1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BRSK1

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    Addgene plasmids for BRSK1 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BRSK1_HUMAN, Q8TDC3: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome (By
    similarity). Cell junction, synapse (By similarity). 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    plasma membrane4
    cytosol3
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA15150265
    GO:0005813centrosome ISS--
    GO:0005886plasma membrane IDA--

    Find genes that share ontologies with BRSK1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BRSK1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    2Neuroscience
    Neuroscience
    3LKB1 signaling events
    LKB1 signaling events
    4Glucose / Energy Metabolism
    Glucose / Energy Metabolism


    Find genes that share SuperPaths with BRSK1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Cell Signaling Technology (CST) Pathways for BRSK1
        Cell Cycle / Checkpoint Control
    Neuroscience
    Glucose / Energy Metabolism

    1 BioSystems Pathway for BRSK1
        LKB1 signaling events



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BRSK1
    Interactions:

        Search GeneGlobe Interaction Network for BRSK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BRSK1 (Q8TDC32, 3 ENSP000003106494) via UniProtKB, MINT, STRING, and/or I2D (see all 170)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA1AP081073, ENSP000003648024I2D: score=1 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation IDA15150265
    GO:0006974cellular response to DNA damage stimulus IDA15150265
    GO:0007269neurotransmitter secretion ISS--
    GO:0007409axonogenesis ISS--
    GO:0009411response to UV IDA15150265

    Find genes that share ontologies with BRSK1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BRSK1

    4 HMDB Compounds for BRSK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    SumatriptanImigran (see all 4)103628-46-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BRSK1 gene: 
    NM_032430.1  

    Unigene Cluster for BRSK1:

    BR serine/threonine kinase 1
    Hs.182081  [show with all ESTs]
    Unigene Representative Sequence: AF479827
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000590333 ENST00000592539 ENST00000309383(uc002qkf.3 uc021vbs.1 uc002qkg.3 uc002qkh.3)
    ENST00000585418 ENST00000591774 ENST00000326848 ENST00000586626 ENST00000588584

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    hsa-miR-146b-3p hsa-miR-513a-5p hsa-miR-3678-5p hsa-miR-128 hsa-miR-339-5p hsa-miR-1205 hsa-miR-10b* hsa-miR-3121-3p
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      QuantiFast Probe-based Assays in human, mouse, rat BRSK1

    Additional mRNA sequence: 

    AB058714.1 AF479826.1 AF479827.1 AK124999.1 AL831945.1 AL834275.1 AY458602.1 AY505124.1 
    BC016681.1 HQ830199.1 

    4 DOTS entries:

    DT.100023087  DT.101965011  DT.92419440  DT.95156946 

    Selected AceView cDNA sequences (see all 43):

    BU742909 AL834275 BQ086295 CK819625 BM129669 AK124999 AF479826 AB058714 
    BM129382 AL831945 AF479827 BQ717903 CK819107 NM_032430 CN485185 CA432345 
    BF529743 BM675364 BU623793 BQ434571 AL133704 AA326737 AY458602 BE222941 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BRSK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCGGGAGGGG
    BRSK1 Expression
    About this image


    BRSK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    BRSK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BRSK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.182081

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

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRSK1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for BRSK1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Brsk11 , 5 BR serine/threonine kinase 11, 5 91.17(n)1
    99.1(a)1
      7 (2.71 cM)5
    3819791  NM_001003920.31  NP_001003920.21 
     46906045 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    25(a)
    many ↔ many
    11(1395107-1398551)
    lizard
    (Anolis carolinensis)
    Reptilia BRSK16
    BR serine/threonine kinase 1
    79(a)
    1 ↔ 1
    GL343329.1(1286258-1355025)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia brsk11 BR serine/threonine kinase 1 71.52(n)
    84(a)
      100491623  XM_004916308.1  XP_004916365.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5583901 serine/threonine-protein kinase BRSK2-like 70.81(n)
    81.29(a)
      558390  XM_003198131.2  XP_003198179.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta sff6
    sugar-free frosting
    48(a)
    1 → many
    3L(15893256-15917961)
    worm
    (Caenorhabditis elegans)
    Secernentea sad-16
    Protein SAD-1, isoform b (sad-1) mRNA, complete cd...
    42(a)
    1 → many
    X(13487872-13500650) WBGene00004719
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GIN4(YDR507C)4 Protein kinase involved in bud growth and assembly more   --   4(1465786-1462358) 852119  NP_010795.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BRSK1 gene
    MARK12  BRSK22  SNRK2  SIK32  SIK22  MARK22  NIM1K2  SIK12  
    MARK42  MARK32  
    Selected SIMAP similar genes for BRSK1 using alignment to 4 protein entries:     BRSK1_HUMAN (see all proteins) (see all similar genes):
    BRSK2    MARK2    MARK3    PRKAA1    PRKAA2    DAPK3
    CAMK2A    CAMK2B    CAMK1D    PNCK    AURKB    TSSK3
    CDK1    CAMK1    DAPK2    PRKACG    TSSK4    TSSK6

    Find genes that share paralogs with BRSK1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BRSK1 (see all 681)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0403944
    A gastric adenocarcinoma sample4--see VAR_0403942 R W mis40--------
    VAR_0403964
    A metastatic melanoma sample4--see VAR_0403962 G E mis40--------
    VAR_0403954
    A lung large cell carcinoma sample4--see VAR_0403952 V I mis40--------
    rs1143539871,2
    F--55793806(+) AAAGCC/TGGACG 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1450551971,2
    --55793904(+) CACCAA/TACATT 1 -- us2k10--------
    rs1166859091,2
    C,F--55793934(+) ATCATC/TTGTTT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs284307691,2
    C--55794031(+) GCTGAA/GATTTG 1 -- us2k10--------
    rs621263571,2
    C,F--55794266(+) ATGCCG/ACCATG 1 -- us2k13Minor allele frequency- A:0.40NA CSA 5
    rs284122791,2
    --55794293(+) AAAAAA/TTTTTG 1 -- us2k10--------
    rs1920156631,2
    --55794345(+) ACCTCC/TGTCTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BRSK1 (55793440 - 55823930 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for BRSK1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1551083CNV Insertion17803354
    nsv912457CNV Loss21882294
    nsv912459CNV Loss21882294
    dgv4016n71CNV Loss21882294
    nsv912458CNV Loss21882294
    nsv912460CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BRSK1
    DNA2.0 Custom Variant and Variant Library Synthesis for BRSK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 609235    OMIM disorders: --


    Find genes that share disorders with BRSK1           About GenesLikeMe

    Genetic Association Database (GAD): BRSK1
    Human Genome Epidemiology (HuGE) Navigator: BRSK1 (2 documents)

    Export disorders for BRSK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BRSK1 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with BRSK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. LKB1 is a master kinase that activates 13 kinases of the AMPK subfamily, including MARK/PAR-1. (PubMed id 14976552)1, 2, 3 Lizcano J.M....Alessi D.R. (EMBO J. 2004)
    2. Human SAD1 kinase is involved in UV-induced DNA damage checkpoint function. (PubMed id 15150265)1, 2, 9 Lu R.... Nakanishi M. (J. Biol. Chem. 2004)
    3. Loci at chromosomes 13, 19 and 20 influence age at natural menopause. (PubMed id 19448619)1, 4 Stolk L....Uitterlinden A.G. (Nat. Genet. 2009)
    4. SADB phosphorylation of gamma-tubulin regulates centrosome duplication. (PubMed id 19648910)1, 2 Alvarado-Kristensson M....Carrera A.C. (Nat. Cell Biol. 2009)
    5. Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. (PubMed id 19448621)1, 4 He C....Chasman D.I. (Nat. Genet. 2009)
    6. Investigating the regulation of brain-specific kinases 1 and 2 by phosphorylation. (PubMed id 18339622)1, 2 Bright N.J.... Thornton C. (J. Biol. Chem. 2008)
    7. SAD: a presynaptic kinase associated with synaptic vesicles and the active zone cytomatrix that regulates neurotransmitter release. (PubMed id 16630837)1, 2 Inoue E.... Takai Y. (Neuron 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2 Nagase T.... Ohara O. (DNA Res. 2001)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84446 HGNC: 18994 AceView: KIAA1811 Ensembl:ENSG00000160469 euGenes: HUgn84446
    ECgene: BRSK1 H-InvDB: BRSK1

    (According to HUGE)
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    HUGE: KIAA1811

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BRSK1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for BRSK1 gene:
    Search GeneIP for patents involving BRSK1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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