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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BRSK1 Gene

protein-coding   GIFtS: 62
GCID: GC19P055795

BR Serine/Threonine Kinase 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for BRSK1 Gene: 
BRSK1 (BR serine/threonine kinase 1) is a protein-coding gene. Diseases associated with BRSK1 include peutz-jeghers syndrome, and premature ovarian failure, and among its related super-pathways are DNA Damage. GO annotations related to this gene include protein serine/threonine kinase activity and magnesium ion binding. An important paralog of this gene is STK40.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for BRSK1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: 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
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:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8TDC3

  • 4/9 DME Specific Peptides for BRSK1 (Q8TDC3) (see all 9)
     FRQIVSA  WSCGVIL  LKPENLL  RDLKPEN 

    BRSK1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BRSK1 Protein Expression
    REFSEQ proteins: NP_115806.1  
    ENSEMBL proteins: 
     ENSP00000468190   ENSP00000466755   ENSP00000310649   ENSP00000467357   ENSP00000466380  
     ENSP00000320853  

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    Cloud-Clone Corp. Proteins for BRSK1 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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--

    BRSK1 for ontologies           About GeneDecksing



    BRSK1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: BR serine/threonine kinase 1 
    BRSK subfamily

    5/6 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
     IPR015940 UBA/transl_elong_EF1B_N_euk

    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


    BRSK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/10 molecular function terms (GO ID links to tree view) (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 ----
         
    BRSK1 for ontologies           About GeneDecksing


    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 

    BRSK1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Brsk1tm1Jrs for BRSK1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BRSK1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BRSK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BRSK1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BRSK1 

    miRNA
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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
    SwitchGear 3'UTR luciferase reporter plasmidBRSK1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRSK1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BRSK1 About                                                                                                See pathways by source

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

    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




    BRSK1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BRSK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/23 Interacting proteins for BRSK1 (Q8TDC32, 3 ENSP000003106494) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

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

    BRSK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about BRSK1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

    miRNA
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    8/22 QIAGEN miScript miRNA Assays for microRNAs that regulate BRSK1 (see all 22):
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    SwitchGear 3'UTR luciferase reporter plasmidBRSK1 3' UTR sequence
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    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 

    24/43 AceView cDNA sequences (see all 43):

    AL834275 NM_032430 CN485185 CK819625 AF479826 BQ717903 AL831945 BQ086295 
    CK819107 AF479827 AB058714 BU742909 BM129669 AK124999 BM129382 BE222941 
    AA326737 AY458602 BC016681 BQ434571 AL133704 BM675364 CK819624 BG715357 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BRSK1 expression in normal human tissues (normalized intensities)      BRSK1 embryonic expression: see
    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 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
             postcentral gyrus   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
     
     Stomach (Gastrointestinal Tract)    fully expand to see all 2 entries
             stomach, upper ; glandular cells   
     
     Lung (Respiratory System)
             lung ; macrophages   
     
     Pancreas (Endocrine System)
             Islets of Langerhans

    See BRSK1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BRSK1

    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)
    About This Section

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

    Orthologs for BRSK1 gene from 6/13 species (see all 13)    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 
    lizard
    (Anolis carolinensis)
    Reptilia BRSK16
    BR serine/threonine kinase 1
    78(a)
    1 ↔ 1
    GL343329.1(1286258-1355025)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5647011 BR serine/threonine-protein kinase 2-like 70.66(n)
    78.42(a)
      564701  XM_688031.3  XP_693123.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta sff1 sugar-free frosting 58(n)
    61.29(a)
      39732  NM_140557.4  NP_648814.3 
    worm
    (Caenorhabditis elegans)
    Secernentea sad-11 Protein SAD-1 52.02(n)
    57.37(a)
      181471  NM_001083291.1  NP_001076760.1 
    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)
    About This Section
    Paralogs for BRSK1 gene
    STK402  TRIB32  TRIB22  BRSK22  TRIB12  
    18/28 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

    BRSK1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/681 SNPs in BRSK1 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609235    OMIM disorders: --

    3 diseases for BRSK1:    About MalaCards
    peutz-jeghers syndrome    premature ovarian failure    neuronitis


    BRSK1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for BRSK1 gene, integrated from 9 sources (see all 22):
    (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. (2004)
    2. Human SAD1 kinase is involved in UV-induced DNA damage checkpoint function. (PubMed id 15150265)1, 2, 9 Lu R.... Nakanishi M. (2004)
    3. Loci at chromosomes 13, 19 and 20 influence age at na tural menopause. (PubMed id 19448619)1, 4 Stolk L....Uitterlinden A.G. (2009)
    4. SADB phosphorylation of gamma-tubulin regulates centr osome duplication. (PubMed id 19648910)1, 2 Alvarado-Kristensson M....Carrera A.C. (2009)
    5. Genome-wide association studies identify loci associa ted with age at menarche and age at natural menopause. (PubMed id 19448621)1, 4 He C....Chasman D.I. (2009)
    6. Investigating the regulation of brain-specific kinases 1 and 2 by phosphorylation. (PubMed id 18339622)1, 2 Bright N.J....Thornton C. (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. (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. (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. (2001)
    10. Phosphorylation of microtubule-associated protein tau by AMPK-related kinases. (PubMed id 21985311)2 Yoshida H. and Goedert M. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 84446 HGNC: 18994 AceView: KIAA1811 Ensembl:ENSG00000160469 euGenes: HUgn84446
    ECgene: BRSK1 H-InvDB: BRSK1

    (According to HUGE)
    About This Section
    HUGE: KIAA1811

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