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    Atm ataxia telangiectasia mutated [ Mus musculus (house mouse) ]

    Gene ID: 11920, updated on 22-Aug-2017
    Official Symbol
    Atmprovided by MGI
    Official Full Name
    ataxia telangiectasia mutatedprovided by MGI
    Primary source
    MGI:MGI:107202
    See related
    Ensembl:ENSMUSG00000034218 Vega:OTTMUSG00000031707
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    AI256621; C030026E19Rik
    Orthologs
    Location:
    9 A5.3; 9 29.12 cM
    Exon count:
    64
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 9 NC_000075.6 (53437122..53536816, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (53245227..53344776, complement)

    Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930550C14 gene Neighboring gene KDEL (Lys-Asp-Glu-Leu) containing 2 Neighboring gene microRNA 130c Neighboring gene nuclear protein in the AT region Neighboring gene acetyl-Coenzyme A acetyltransferase 1

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    1-phosphatidylinositol-3-kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-dependent protein kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein N-terminus binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein dimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein kinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    DNA damage checkpoint IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    DNA damage induced protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    DNA repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    V(D)J recombination IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    brain development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    cell cycle arrest ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to DNA damage stimulus IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cellular response to DNA damage stimulus ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    cellular response to DNA damage stimulus TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to X-ray ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to gamma radiation ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to nitrosative stress ISO
    Inferred from Sequence Orthology
    more info
     
    chromosome organization involved in meiotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    determination of adult lifespan IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment of RNA localization to telomere ISO
    Inferred from Sequence Orthology
    more info
     
    female gamete generation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    female gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    female meiotic nuclear division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    histone mRNA catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    immune system process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    immunoglobulin production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to DNA damage IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    intrinsic apoptotic signaling pathway in response to DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lipoprotein catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    male meiotic nuclear division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    meiotic telomere clustering IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic spindle assembly checkpoint ISO
    Inferred from Sequence Orthology
    more info
     
    multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of B cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of TORC1 signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of TORC1 signaling ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of telomere capping ISO
    Inferred from Sequence Orthology
    more info
     
    neuron apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    oocyte development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ovarian follicle development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-serine autophosphorylation ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    peptidyl-serine phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of DNA catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of DNA damage response, signal transduction by p53 class mediator ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of histone phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of neuron apoptotic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of neuron apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of neuron death ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of response to DNA damage stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of telomerase catalytic core complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of telomere maintenance via telomerase IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of telomere maintenance via telomere lengthening ISO
    Inferred from Sequence Orthology
    more info
     
    post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    pre-B cell allelic exclusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein autophosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of autophagy ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of cell cycle ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of cellular response to gamma radiation ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of microglial cell activation ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of telomere maintenance via telomerase ISO
    Inferred from Sequence Orthology
    more info
     
    replicative senescence ISO
    Inferred from Sequence Orthology
    more info
     
    response to hypoxia ISO
    Inferred from Sequence Orthology
    more info
     
    response to ionizing radiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    response to ionizing radiation ISO
    Inferred from Sequence Orthology
    more info
     
    signal transduction involved in mitotic G2 DNA damage checkpoint ISO
    Inferred from Sequence Orthology
    more info
     
    somitogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    thymus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    DNA repair complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    colocalizes_with chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    serine-protein kinase ATM
    Names
    A-T mutated homolog
    ataxia telangiectasia gene mutated in human beings
    ataxia telangiectasia mutated homolog
    NP_031525.2
    XP_006510019.1
    XP_011240687.1
    XP_011240688.1

    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_007499.2NP_031525.2  serine-protein kinase ATM

      See identical proteins and their annotated locations for NP_031525.2

      Status: VALIDATED

      Source sequence(s)
      AC079869, AK021102, BY725995, CJ175223, U43678
      Consensus CDS
      CCDS40636.1
      UniProtKB/Swiss-Prot
      Q62388
      Related
      ENSMUSP00000113388.1, OTTMUSP00000041767, ENSMUST00000118282.7, OTTMUST00000078538
      Conserved Domains (4) summary
      cd05171
      Location:26932972
      PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
      pfam02259
      Location:21022499
      FAT; FAT domain
      pfam02260
      Location:30363065
      FATC; FATC domain
      pfam11640
      Location:11165
      TAN; Telomere-length maintenance and DNA damage repair

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000075.6 Reference GRCm38.p4 C57BL/6J

      Range
      53437122..53536816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011242385.2XP_011240687.1  serine-protein kinase ATM isoform X1

      Conserved Domains (4) summary
      cd05171
      Location:27042983
      PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
      pfam02259
      Location:21162510
      FAT; FAT domain
      pfam02260
      Location:30473076
      FATC; FATC domain
      pfam11640
      Location:11165
      TAN; Telomere-length maintenance and DNA damage repair
    2. XM_006509956.3XP_006510019.1  serine-protein kinase ATM isoform X2

      See identical proteins and their annotated locations for XP_006510019.1

      UniProtKB/TrEMBL
      B9EHX4
      Conserved Domains (4) summary
      cd05171
      Location:26902969
      PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
      pfam02259
      Location:21022496
      FAT; FAT domain
      pfam02260
      Location:30333062
      FATC; FATC domain
      pfam11640
      Location:11165
      TAN; Telomere-length maintenance and DNA damage repair
    3. XM_011242386.1XP_011240688.1  serine-protein kinase ATM isoform X3

      Conserved Domains (1) summary
      pfam11640
      Location:11165
      TAN; Telomere-length maintenance and DNA damage repair

    RNA

    1. XR_870525.1 RNA Sequence

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