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

Gene ID: 11920, updated on 5-Nov-2024

Summary

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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, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 3.8), CNS E14 (RPKM 2.7) and 24 other tissues See more
Orthologs: human all
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Genomic context

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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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Age-related decline in the expression of BRG1, ATM and ATR are partially reversed by dietary restriction in the livers of female mice.
Title: Age-related decline in the expression of BRG1, ATM and ATR are partially reversed by dietary restriction in the livers of female mice.
Absence of ATM leads to altered NK cell function in mice.
Title: Absence of ATM leads to altered NK cell function in mice.
ATM and 53BP1 regulate alternative end joining-mediated V(D)J recombination.
Title: ATM and 53BP1 regulate alternative end joining-mediated V(D)J recombination.
Ataxia Telangiectasia Mutated Signaling Delays Skin Pigmentation upon UV Exposure by Mediating MITF Function toward DNA Repair Mode.
Title: Ataxia Telangiectasia Mutated Signaling Delays Skin Pigmentation upon UV Exposure by Mediating MITF Function toward DNA Repair Mode.
ATM orchestrates ferritinophagy and ferroptosis by phosphorylating NCOA4.
Title: ATM orchestrates ferritinophagy and ferroptosis by phosphorylating NCOA4.
ATM suppresses c-Myc overexpression in the mammary epithelium in response to estrogen.
Title: ATM suppresses c-Myc overexpression in the mammary epithelium in response to estrogen.
ATM deficiency aggravates the progression of liver fibrosis induced by carbon tetrachloride in mice.
Title: ATM deficiency aggravates the progression of liver fibrosis induced by carbon tetrachloride in mice.
ATM phosphorylates PP2A subunit A resulting in nuclear export and spatiotemporal regulation of the DNA damage response.
Title: ATM phosphorylates PP2A subunit A resulting in nuclear export and spatiotemporal regulation of the DNA damage response.
Ataxia-televangelist mutated (ATM)/ ATR serine/threonine kinase (ATR)-mediated RAD51 recombinase (RAD51) promotes osteogenic differentiation and inhibits osteoclastogenesis in osteoporosis.
Title: Ataxia-televangelist mutated (ATM)/ ATR serine/threonine kinase (ATR)-mediated RAD51 recombinase (RAD51) promotes osteogenic differentiation and inhibits osteoclastogenesis in osteoporosis.
ATM loss disrupts the autophagy-lysosomal pathway.
Title: ATM loss disrupts the autophagy-lysosomal pathway.

Submit: New GeneRIF Correction See all GeneRIFs (283)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (6)
Endonuclease-mediated (2)
Gene trapped (1)
Targeted (18) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

U43678 (e-PCR)
- UniSTS:125751

Atm (e-PCR), detects polymorphism
- UniSTS:506743

RH136054 (e-PCR)
- UniSTS:210049

U43678 (e-PCR)
- UniSTS:163459

PMC316723P1 (e-PCR)
- UniSTS:273042

PMC316723P2 (e-PCR)
- UniSTS:273043

PMC316856P3 (e-PCR)
- UniSTS:273055

Atm (e-PCR), detects polymorphism
- UniSTS:478945

AW557183 (e-PCR)
- UniSTS:208379

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 1-phosphatidylinositol-3-kinase activity	ISO Inferred from Sequence Orthology more info
enables 1-phosphatidylinositol-3-kinase activity	ISS Inferred from Sequence or Structural Similarity 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	IEA Inferred from Electronic Annotation more info
enables DNA-dependent protein kinase activity	ISO Inferred from Sequence Orthology more info
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H2AXS139 kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology 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 kinase activity	IEA Inferred from Electronic Annotation more info
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 serine/threonine kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology 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
involved_in DNA double-strand break processing	IEA Inferred from Electronic Annotation more info
involved_in DNA double-strand break processing	ISO Inferred from Sequence Orthology more info
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
involved_in cellular response to X-ray	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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
involved_in cellular response to nitrosative stress	ISO Inferred from Sequence Orthology more info
involved_in cellular response to reactive oxygen species	IEA Inferred from Electronic Annotation 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
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
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
involved_in double-strand break repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair	ISO Inferred from Sequence Orthology more info
involved_in double-strand break repair	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
involved_in establishment of RNA localization to telomere	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation 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
involved_in histone mRNA catabolic process	ISS Inferred from Sequence or Structural Similarity 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
involved_in mitotic spindle assembly checkpoint signaling	ISS Inferred from Sequence or Structural Similarity 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	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation 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
involved_in peptidyl-serine autophosphorylation	IEA Inferred from Electronic Annotation more info
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
involved_in pexophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in phosphatidylinositol-3-phosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA catabolic process	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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation 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 autophosphorylation	ISS Inferred from Sequence or Structural Similarity 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	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
involved_in replicative senescence	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation 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 response to ionizing radiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in signal transduction in response to DNA damage	ISO Inferred from Sequence Orthology more info
involved_in signal transduction in response to DNA damage	ISS Inferred from Sequence or Structural Similarity 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
located_in chromosome, telomeric region	IEA Inferred from Electronic Annotation more info
colocalizes_with chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in extrinsic component of synaptic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nucleolus	IEA Inferred from Electronic Annotation 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
is_active_in peroxisomal matrix	ISS Inferred from Sequence or Structural Similarity more info
is_active_in site of double-strand break	ISO Inferred from Sequence Orthology more info
is_active_in site of double-strand break	ISS Inferred from Sequence or Structural Similarity more info
located_in spindle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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

EC 2.7.11.1

XP_011240687.1

EC 2.7.11.1

XP_036010467.1

EC 2.7.11.1

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)

NM_007499.3 → NP_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:2690 → 2969

PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated

pfam02259
Location:2102 → 2496

FAT; FAT domain

pfam02260
Location:3033 → 3062

FATC; FATC domain

pfam11640
Location:8 → 165

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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

53348422..53448125 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

E9QNY7, Q62388

Conserved Domains (4) summary

cd05171
Location:2704 → 2983

PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated

pfam02259
Location:2128 → 2510

FAT; FAT domain

pfam02260
Location:3047 → 3076

FATC; FATC domain

pfam11640
Location:8 → 165

TAN; Telomere-length maintenance and DNA damage repair
XM_036154574.1 → XP_036010467.1 serine-protein kinase ATM isoform X2

Conserved Domains (2) summary

pfam02259
Location:2116 → 2174

FAT; FAT domain

pfam11640
Location:8 → 165

TAN; Telomere-length maintenance and DNA damage repair