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    BRSK1 BR serine/threonine kinase 1 [ Homo sapiens (human) ]

    Gene ID: 84446, updated on 14-May-2013
    Official Symbol
    BRSK1provided by HGNC
    Official Full Name
    BR serine/threonine kinase 1provided by HGNC
    Primary source
    HGNC:18994
    See related
    Ensembl:ENSG00000160469; HPRD:12533; MIM:609235; Vega:OTTHUMG00000180735
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hSAD1
    Location :
    19q13.4
    Sequence :
    Chromosome: 19; NC_000019.9 (55795534..55823930)
    See BRSK1 in Epigenomics, MapViewer

    Chromosome 19 - NC_000019.9Genomic Context describing neighboring genes Neighboring gene protein phosphatase 6, regulatory subunit 1 Neighboring gene HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 Neighboring gene transmembrane protein 150B Neighboring gene suppressor of variegation 4-20 homolog 2 (Drosophila)

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study. Chen CT, et al. Hum Mol Genet, 2012 Mar 15. PMID 22131368.
    2. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832.
    3. SADB phosphorylation of gamma-tubulin regulates centrosome duplication. Alvarado-Kristensson M, et al. Nat Cell Biol, 2009 Sep. PMID 19648910.
    4. Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. He C, et al. Nat Genet, 2009 Jun. PMID 19448621.
    5. Loci at chromosomes 13, 19 and 20 influence age at natural menopause. Stolk L, et al. Nat Genet, 2009 Jun. PMID 19448619.

    See all (16) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Single nucleotide polymorphism in BRSK1 is associated with the length of reproductive lifespan.
      Title: Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.
    3. SADB kinase activity controls centrosome homeostasis by regulating phosphorylation of gamma-tubulin.
      Title: SADB phosphorylation of gamma-tubulin regulates centrosome duplication.
    4. STRADalpha.MO25alpha complexes containing LKB1 variants were equally effective at phosphorylating and activating AMPK, BRSK1, and BRSK2
      Title: C-terminal phosphorylation of LKB1 is not required for regulation of AMP-activated protein kinase, BRSK1, BRSK2, or cell cycle arrest.
    5. protein phosphatase 2C is a likely candidate for catalyzing the dephosphorylation and inactivation of BRSK1/2.
      Title: Investigating the regulation of brain-specific kinases 1 and 2 by phosphorylation.
    6. acts as checkpoint kinase upon DNA damage induced by UV
      Title: Human SAD1 kinase is involved in UV-induced DNA damage checkpoint function.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    Q8TDC3 P30305 CDC25B    HPRD  PubMed  
    Q8TDC3 P30307 CDC25C    HPRD  PubMed  
    Q8TDC3 Heat shock 70 KD protein 1A HSPA1A    HPRD  PubMed  
    Q8TDC3 P30291 WEE1    HPRD  PubMed  
    BioGRID:124084 BioGRID:119563 HSD17B7    BioGRID  PubMed Two-hybrid 
    BioGRID:124084 BioGRID:111549 PRKAA1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124084 BioGRID:113164 UBC    BioGRID  PubMed Reconstituted Complex 

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ43009, KIAA1811

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IC
    Inferred by Curator
    more info
    		 PubMed 
    gamma-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    tau-protein kinase activity IDA
    Inferred from Direct Assay
    more info
    		  
    tau-protein kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    G2 DNA damage checkpoint IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    axonogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    centrosome duplication ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    establishment of cell polarity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    neurotransmitter secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    response to UV IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		  
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    synaptic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Preferred Names
    serine/threonine-protein kinase BRSK1
    Names
    serine/threonine-protein kinase BRSK1
    SAD1 kinase
    SAD1 homolog
    protein kinase SAD1A
    brain-selective kinase 1
    SadB kinase short isoform
    BR serine/threonine-protein kinase 1
    serine/threonine-protein kinase SAD-B
    synapses of Amphids Defective homolog 1
    brain-specific serine/threonine-protein kinase 1
    NP_115806.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_032430.1 → NP_115806.1  serine/threonine-protein kinase BRSK1

      Status: VALIDATED

      Source sequence(s)
      AF479827
      Consensus CDS
      CCDS12921.1
      UniProtKB/Swiss-Prot
      Q8TDC3
      Related
      ENSP00000310649, OTTHUMP00000265149, ENST00000309383, OTTHUMT00000452787
      Conserved Domains (2) summary
      cd00180
      Location:40 – 283
      Blast Score: 604
      PKc; Catalytic domain of Protein Kinases
      smart00220
      Location:34 – 284
      Blast Score: 826
      S_TKc; Serine/Threonine protein kinases, catalytic domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000019.9 Reference GRCh37.p10 Primary Assembly

      Range
      55795534..55823930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000151.1 Alternate HuRef

      Range
      52118294..52145956
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018930.1 Alternate CHM1_1.0

      Range
      55948585..55976708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01068109.1 (10762..29563) None
    genomic ABBA01068110.1 None
    genomic ABBA01068111.1 None
    genomic AC008974.7 (12892..21178) None
    genomic AC020922.9 (735..20844) None
    genomic AMYH01009990.1 None
    genomic AMYH01009991.1 None
    genomic CH471135.1 EAW72359.1
      EAW72360.1
      EAW72361.1
    mRNA AB058714.1 BAB47440.1
    mRNA AF479826.1 AAL87697.1
    mRNA AF479827.1 AAL87698.1
    mRNA AK124999.1 BAG54120.1
    mRNA AL831945.1 CAD38595.1
    mRNA AL834275.1 CAD38950.2
    mRNA AY458602.1 AAS10354.1
    mRNA AY505124.1 AAS86442.1
    mRNA BC016681.1 AAH16681.1
    mRNA HQ830199.1 ADX95745.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TDC3.2 GenPept UniProtKB/Swiss-Prot:Q8TDC3

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioAssay, by Gene target
        PubChem BioAssays done on the Gene target
      • BioAssay, by Protein Target
        BioAssay, by Protein Target
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

      General information

      Related sites

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