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

    Gene ID: 11920, updated on 28-Jan-2025

    Summary

    Official Symbol
    Atmprovided by MGI
    Official Full Name
    ataxia telangiectasia mutatedprovided by MGI
    Primary source
    MGI:MGI:107202
    See related
    Ensembl:ENSMUSG00000034218 AllianceGenome:MGI:107202
    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
    C030026E19Rik
    Summary
    Enables histone H2AXS139 kinase activity. Involved in several processes, including cellular response to retinoic acid; negative regulation of TORC1 signaling; and regulation of macromolecule biosynthetic process. Acts upstream of or within several processes, including immune system development; intracellular signal transduction; and meiotic nuclear division. Located in cytoplasm; microtubule cytoskeleton; and nucleus. Is extrinsic component of synaptic vesicle membrane. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system; nervous system; and sensory organ. Used to study ataxia telangiectasia. Human ortholog(s) of this gene implicated in several diseases, including breast cancer (multiple); endocrine gland cancer (multiple); lung carcinoma (multiple); neurodegenerative disease (multiple); and senile cataract. Orthologous to human ATM (ATM serine/threonine kinase). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 3.8), CNS E14 (RPKM 2.7) and 24 other tissues See more
    Orthologs
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    Genomic context

    See Atm in Genome Data Viewer
    Location:
    9 A5.3; 9 29.12 cM
    Exon count:
    64
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (53348422..53448125, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (53437122..53536828, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene protein O-glucosyltransferase 3 Neighboring gene RIKEN cDNA 4930550C14 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:53213128-53213311 Neighboring gene microRNA 130c Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:53344652-53344897 Neighboring gene nuclear protein in the AT region Neighboring gene STARR-seq mESC enhancer starr_24146 Neighboring gene acetyl-Coenzyme A acetyltransferase 1 Neighboring gene STARR-positive B cell enhancer ABC_E1384

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (6) 
    • Endonuclease-mediated (3) 
    • Gene trapped (1) 
    • Targeted (18)  1 citation

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Items 1 - 25 of 36
    Function Evidence Code Pubs
    enables 1-phosphatidylinositol-3-kinase activity  
    enables 1-phosphatidylinositol-3-kinase activity  
    enables 3-phosphoinositide-dependent protein kinase activity  
    enables AMP-activated protein kinase activity  
    enables ATP binding  
    enables DNA binding  
    enables DNA-dependent protein kinase activity  
    enables DNA-dependent protein kinase activity  
    enables Rho-dependent protein serine/threonine kinase activity  
    enables eukaryotic translation initiation factor 2alpha kinase activity  
    enables histone H2AS1 kinase activity  
    enables histone H2AS121 kinase activity  
    enables histone H2AT120 kinase activity  
    enables histone H2AXS139 kinase activity PubMed 
    enables histone H2BS14 kinase activity  
    enables histone H2BS36 kinase activity  
    enables histone H3S10 kinase activity  
    enables histone H3S28 kinase activity  
    enables histone H3S57 kinase activity  
    enables histone H3T11 kinase activity  
    enables histone H3T3 kinase activity  
    enables histone H3T45 kinase activity  
    enables histone H3T6 kinase activity  
    enables histone H4S1 kinase activity  
    enables identical protein binding  
    enables identical protein binding  
    enables protein binding PubMed 
    enables protein kinase activity PubMed 
    enables protein kinase activity PubMed 
    enables protein serine kinase activity  
    enables protein serine/threonine kinase activity  
    enables protein serine/threonine kinase activity  
    enables protein serine/threonine kinase activity  
    enables protein-containing complex binding  
    enables protein-containing complex binding  
    enables ribosomal protein S6 kinase activity  
    Items 1 - 25 of 36
    Items 1 - 25 of 110
    Process Evidence Code Pubs
    involved_in DNA damage checkpoint signaling  
    acts_upstream_of_or_within DNA damage checkpoint signaling PubMed 
    involved_in DNA damage checkpoint signaling  
    acts_upstream_of_or_within DNA damage response PubMed 
    acts_upstream_of_or_within DNA damage response PubMed 
    involved_in DNA damage response  
    acts_upstream_of_or_within DNA damage response PubMed 
    involved_in DNA double-strand break processing  
    involved_in DNA double-strand break processing  
    acts_upstream_of_or_within DNA repair PubMed 
    acts_upstream_of_or_within DNA repair PubMed 
    acts_upstream_of_or_within V(D)J recombination PubMed 
    acts_upstream_of_or_within brain development PubMed 
    involved_in cellular response to X-ray  
    involved_in cellular response to X-ray  
    involved_in cellular response to gamma radiation  
    involved_in cellular response to gamma radiation  
    involved_in cellular response to ionizing radiation  
    involved_in cellular response to nitrosative stress  
    involved_in cellular response to nitrosative stress  
    involved_in cellular response to reactive oxygen species  
    involved_in cellular response to reactive oxygen species  
    involved_in cellular response to retinoic acid PubMed 
    involved_in chromatin remodeling  
    acts_upstream_of_or_within chromosome organization involved in meiotic cell cycle PubMed 
    acts_upstream_of_or_within determination of adult lifespan PubMed 
    involved_in double-strand break repair  
    involved_in double-strand break repair  
    involved_in double-strand break repair  
    acts_upstream_of_or_within double-strand break repair via homologous recombination PubMed 
    involved_in double-strand break repair via homologous recombination  
    involved_in establishment of RNA localization to telomere  
    involved_in establishment of RNA localization to telomere  
    involved_in establishment of protein-containing complex localization to telomere  
    involved_in establishment of protein-containing complex localization to telomere  
    acts_upstream_of_or_within female gamete generation PubMed 
    acts_upstream_of_or_within female gonad development PubMed 
    acts_upstream_of_or_within female meiotic nuclear division PubMed 
    acts_upstream_of_or_within heart development PubMed 
    involved_in histone mRNA catabolic process  
    involved_in histone mRNA catabolic process  
    acts_upstream_of_or_within immune system process PubMed 
    acts_upstream_of_or_within immunoglobulin production PubMed 
    involved_in intrinsic apoptotic signaling pathway in response to DNA damage  
    acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage PubMed 
    acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage PubMed 
    acts_upstream_of_or_within lipoprotein catabolic process PubMed 
    acts_upstream_of_or_within male meiotic nuclear division PubMed 
    acts_upstream_of_or_within meiotic telomere clustering PubMed 
    involved_in mitotic G2 DNA damage checkpoint signaling PubMed 
    involved_in mitotic spindle assembly checkpoint signaling  
    involved_in mitotic spindle assembly checkpoint signaling  
    acts_upstream_of_or_within multicellular organism growth PubMed 
    involved_in negative regulation of B cell proliferation  
    involved_in negative regulation of B cell proliferation  
    involved_in negative regulation of TORC1 signaling  
    involved_in negative regulation of TORC1 signaling PubMed 
    involved_in negative regulation of TORC1 signaling  
    involved_in negative regulation of telomere capping  
    involved_in negative regulation of telomere capping  
    acts_upstream_of neuron apoptotic process PubMed 
    acts_upstream_of_or_within neuron apoptotic process PubMed 
    acts_upstream_of_or_within oocyte development PubMed 
    acts_upstream_of_or_within ovarian follicle development PubMed 
    acts_upstream_of_or_within peptidyl-serine autophosphorylation PubMed 
    involved_in peptidyl-serine phosphorylation  
    involved_in pexophagy  
    involved_in pexophagy  
    involved_in phosphatidylinositol-3-phosphate biosynthetic process  
    involved_in positive regulation of DNA catabolic process  
    involved_in positive regulation of DNA catabolic process  
    involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator  
    involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator  
    involved_in positive regulation of apoptotic process  
    involved_in positive regulation of cell adhesion PubMed 
    involved_in positive regulation of cell migration  
    involved_in positive regulation of cell migration  
    involved_in positive regulation of gene expression  
    involved_in positive regulation of gene expression  
    acts_upstream_of_or_within positive regulation of neuron apoptotic process PubMed 
    involved_in positive regulation of neuron apoptotic process  
    involved_in positive regulation of telomerase catalytic core complex assembly  
    involved_in positive regulation of telomerase catalytic core complex assembly  
    involved_in positive regulation of telomere maintenance via telomerase PubMed 
    involved_in positive regulation of telomere maintenance via telomere lengthening  
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    acts_upstream_of_or_within post-embryonic development PubMed 
    involved_in pre-B cell allelic exclusion PubMed 
    involved_in protein autophosphorylation  
    involved_in protein autophosphorylation  
    acts_upstream_of_or_within protein phosphorylation PubMed 
    involved_in protein phosphorylation  
    involved_in regulation of autophagy PubMed 
    involved_in regulation of autophagy  
    involved_in regulation of cell cycle  
    involved_in regulation of microglial cell activation  
    involved_in regulation of microglial cell activation  
    involved_in regulation of telomere maintenance via telomerase  
    involved_in replicative senescence  
    involved_in replicative senescence  
    involved_in response to hypoxia  
    involved_in response to hypoxia  
    acts_upstream_of_or_within response to ionizing radiation PubMed 
    involved_in response to ionizing radiation  
    involved_in response to ionizing radiation  
    involved_in signal transduction in response to DNA damage  
    involved_in signal transduction in response to DNA damage  
    acts_upstream_of_or_within somitogenesis PubMed 
    involved_in telomere maintenance  
    acts_upstream_of_or_within thymus development PubMed 
    Items 1 - 25 of 110
    Items 1 - 20 of 22
    Component Evidence Code Pubs
    part_of DNA repair complex PubMed 
    located_in centrosome PubMed 
    is_active_in chromosome  
    located_in chromosome, telomeric region  
    colocalizes_with chromosome, telomeric region  
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    is_active_in extrinsic component of synaptic vesicle membrane PubMed 
    located_in intracellular membrane-bounded organelle  
    located_in nucleolus  
    located_in nucleolus  
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 
    located_in nucleus  
    located_in nucleus PubMed 
    is_active_in peroxisomal matrix  
    is_active_in peroxisomal matrix  
    is_active_in site of double-strand break  
    is_active_in site of double-strand break  
    located_in spindle PubMed 
    Items 1 - 20 of 22

    General protein information

    Preferred Names
    serine-protein kinase ATM
    Names
    A-T mutated homolog
    ataxia telangiectasia gene mutated in human beings
    ataxia telangiectasia mutated homolog
    NP_031525.3
    XP_011240687.1
    XP_036010467.1

    NCBI Reference Sequences (RefSeq)

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    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_007499.3NP_031525.3  serine-protein kinase ATM

      Status: VALIDATED

      Source sequence(s)
      AC079869, AC156640
      Consensus CDS
      CCDS40636.2
      UniProtKB/Swiss-Prot
      E9QNY7, Q62388
      UniProtKB/TrEMBL
      B9EHX4
      Related
      ENSMUSP00000113388.3, ENSMUST00000118282.9
      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:8165
      TAN; Telomere-length maintenance and DNA damage repair

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      53348422..53448125 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011242385.4XP_011240687.1  serine-protein kinase ATM isoform X1

      UniProtKB/Swiss-Prot
      E9QNY7, Q62388
      Conserved Domains (4) summary
      cd05171
      Location:27042983
      PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated
      pfam02259
      Location:21282510
      FAT; FAT domain
      pfam02260
      Location:30473076
      FATC; FATC domain
      pfam11640
      Location:8165
      TAN; Telomere-length maintenance and DNA damage repair
    2. XM_036154574.1XP_036010467.1  serine-protein kinase ATM isoform X2

      Conserved Domains (2) summary
      pfam02259
      Location:21162174
      FAT; FAT domain
      pfam11640
      Location:8165
      TAN; Telomere-length maintenance and DNA damage repair

    RNA

    1. XR_870525.3 RNA Sequence

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