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

Gene ID: 11920, updated on 8-Feb-2024

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 protein kinase activity. Involved in several processes, including cellular response to retinoic acid; negative regulation of TORC1 signaling; and positive regulation of macromolecule biosynthetic process. Acts upstream of or within several processes, including DNA recombination; animal organ development; and meiotic nuclear division. Located in cytoplasm; microtubule cytoskeleton; and nucleus. 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 colorectal cancer; endometrial cancer; lung carcinoma (multiple); neurodegenerative disease (multiple); and senile cataract. Orthologous to human ATM (ATM serine/threonine kinase). [provided by Alliance of Genome Resources, Apr 2022]
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)
  • Gene trapped (1) 
  • Targeted (18)  1 citation
  • Chemically induced (ENU) (6) 
  • Endonuclease-mediated (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 1-phosphatidylinositol-3-kinase activity ISO
Inferred from Sequence Orthology
more info
 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA binding IEA
Inferred from Electronic Annotation
more info
 
enables DNA-dependent protein kinase activity ISO
Inferred from Sequence Orthology
more info
 
enables histone H2AXS139 kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein kinase activity TAS
Traceable Author Statement
more info
PubMed 
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables protein serine/threonine kinase activity ISO
Inferred from Sequence Orthology
more info
 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in DNA damage checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in DNA damage checkpoint signaling ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within DNA damage response IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within DNA damage response ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in DNA damage response ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within DNA damage response TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within DNA repair IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within V(D)J recombination IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within brain development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within cell cycle IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to X-ray ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to gamma radiation ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to ionizing radiation ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to nitrosative stress ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to reactive oxygen species ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to retinoic acid IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within chromosome organization involved in meiotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within determination of adult lifespan IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in establishment of RNA localization to telomere ISO
Inferred from Sequence Orthology
more info
 
involved_in establishment of protein-containing complex localization to telomere ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within female gamete generation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within female gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within female meiotic nuclear division IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within heart development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in histone mRNA catabolic process ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within immune system process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within immunoglobulin production IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intrinsic apoptotic signaling pathway in response to DNA damage IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within lipoprotein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within male meiotic nuclear division IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within meiotic telomere clustering IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitotic G2 DNA damage checkpoint signaling ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in mitotic spindle assembly checkpoint signaling ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of B cell proliferation ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of TORC1 signaling IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of TORC1 signaling ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of telomere capping ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of neuron apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within neuron apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within oocyte development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within ovarian follicle development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within peptidyl-serine autophosphorylation ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in peptidyl-serine phosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in pexophagy ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA catabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell migration ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within positive regulation of neuron apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of neuron apoptotic process ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of telomerase catalytic core complex assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of telomere maintenance via telomerase IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of telomere maintenance via telomere lengthening ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within post-embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pre-B cell allelic exclusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein autophosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein phosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of autophagy ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of cell cycle ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of microglial cell activation ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of telomere maintenance via telomerase ISO
Inferred from Sequence Orthology
more info
 
involved_in replicative senescence ISO
Inferred from Sequence Orthology
more info
 
involved_in response to hypoxia ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within response to ionizing radiation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in response to ionizing radiation ISO
Inferred from Sequence Orthology
more info
 
involved_in signal transduction in response to DNA damage ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within somitogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in telomere maintenance IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within thymus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of DNA repair complex ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with chromosome, telomeric region ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus TAS
Traceable Author Statement
more info
PubMed 
is_active_in peroxisomal matrix ISO
Inferred from Sequence Orthology
more info
 
located_in peroxisome IEA
Inferred from Electronic Annotation
more info
 
located_in spindle IDA
Inferred from Direct Assay
more info
PubMed 

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)

NEW Try the new Transcript table

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