Atm Gene Summary [Mouse]
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, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Atm |
| Official Name | ataxia telangiectasia mutated [Source:MGI Symbol;Acc:MGI:107202] |
| Ensembl ID | ENSMUSG00000034218 |
| Bio databases IDs | |
| Aliases | ataxia telangiectasia mutated |
| Synonyms | AT1, ATA, ataxia telangiectasia mutated, ATC, ATD, ATDC, ATE, ATM serine/threonine kinase, BRCATA, C030026E19RIK, TEL1, TELO1 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Atm often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PI3K binding domain
- DNA-dependent protein kinase
- protein serine/threonine kinase
- ATM/ATR homologous domain
- LZP domain
- protein kinase
- regulatory domain
- Phosphatidylinositol 3- and 4-kinase
- PI3K catalytic domain
- leucine zipper domain
- enzyme
- protein binding
- identical protein binding
- FATC domain
- Telomere-length maintenance and DNA damage repair
- kinase
- kinase domain
- ATP-binding pocket
- FAT domain
- Phosphoinositide 3-kinase, catalytic domain
- binding protein
- Protein Kinases, catalytic domain
- PI3K-like kinase domain
- peroxisome targeting signal
Pathways
Biological processes and signaling networks where the Atm gene in mouse plays a role, providing insight into its function and relevance in health or disease.
- Aryl Hydrocarbon Receptor Signaling
- ATM Signaling
- Autophagy
- Cyclins and Cell Cycle Regulation
- DNA damage-induced 14-3-3σ Signaling
- DNA Double-Strand Break Repair by Homologous Recombination
- DNA Double-Strand Break Repair by Non-Homologous End Joining
- GADD45 Signaling
- Hereditary Breast Cancer Signaling
- Hypoxia Signaling in the Cardiovascular System
- Molecular Mechanisms of Cancer
- p53 Signaling
- Role of BRCA1 in DNA Damage Response
- Role of CHK Proteins in Cell Cycle Checkpoint Control
- UVA-Induced MAPK Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- head and neck squamous cell carcinoma
- COVID-19
- rheumatoid arthritis
- atherosclerosis
- neoplasia
- insulin resistance
- breast cancer
- colorectal cancer
- familial breast cancer
- hereditary cancer-predisposing syndrome
phenotypes
- Purkinje cell degeneration
- abnormal CD4-positive T cell differentiation
- abnormal CD8-positive alpha-beta T cell differentiation
- abnormal DNA repair
- abnormal Purkinje cell dendrite morphology
- abnormal Purkinje cell morphology
- abnormal T cell differentiation
- abnormal T cell physiology
- abnormal adipose tissue distribution
- abnormal cell cycle
- abnormal cell cycle checkpoint function
- abnormal cerebellar granule cell morphology
- abnormal cerebellar molecular layer
- abnormal chromosome morphology
- abnormal class switch recombination
- abnormal fat cell differentiation
- abnormal female meiosis
- abnormal female reproductive system morphology
- abnormal gametogenesis
- abnormal immune system cell morphology
- abnormal immune system organ morphology
- abnormal lymphocyte morphology
- abnormal lysosome morphology
- abnormal male reproductive system morphology
- abnormal microglial cell physiology
- abnormal motor learning
- abnormal oogenesis
- abnormal reproductive system physiology
- abnormal seminiferous tubule morphology
- abnormal spermatid morphology
- abnormal spermatocyte morphology
- abnormal spermatogenesis
- abnormal testis development
- abnormal testis morphology
- abnormal tumor incidence
- abnormal uterus morphology
- absent estrous cycle
- absent estrus
- absent oocytes
- absent ovarian follicles
- altered tumor susceptibility
- arrest of male meiosis
- arrest of spermatogenesis
- ataxia
- azoospermia
- chromosomal instability
- chromosome breakage
- decreased CD4-positive alpha beta T cell number
- decreased CD8-positive alpha-beta T cell number
- decreased CD8-positive naive alpha-beta T cell number
- decreased IgG level
- decreased IgG2a level
- decreased IgG2b level
- decreased IgG3 level
- decreased T cell number
- decreased activated T cell number
- decreased body size
- decreased body weight
- decreased cell proliferation
- decreased cellular sensitivity to gamma-irradiation
- decreased cellular sensitivity to ionizing radiation
- decreased circulating adiponectin level
- decreased circulating leptin level
- decreased double-positive T cell number
- decreased fibroblast proliferation
- decreased immature B cell number
- decreased interleukin-1 beta secretion
- decreased lymphocyte cell number
- decreased pre-B cell number
- decreased response to antigen
- decreased sensitivity to induced cell death
- decreased single-positive T cell number
- decreased splenocyte number
- decreased subcutaneous adipose tissue amount
- decreased thymocyte number
- decreased vertical activity
- ectopic Purkinje cell
- embryonic lethality complete penetrance
- enlarged spleen
- female infertility
- hypoactivity
- impaired coordination
- impaired glucose tolerance
- impaired humoral immune response
- impaired macrophage phagocytosis
- increased B cell number
- increased B-1 B cell number
- increased B-1a cell number
- increased CD8-positive alpha-beta memory T cell number
- increased IgM level
- increased T cell derived lymphoma incidence
- increased adenoma incidence
- increased cellular sensitivity to gamma-irradiation
- increased cellular sensitivity to ionizing radiation
- increased central memory CD4-positive alpha-beta T cell number
- increased central memory CD8 positive alpha-beta T cell number
- increased double-negative T cell number
- increased double-positive T cell number
- increased effector memory CD4-positive alpha-beta T cell number
- increased food intake
- increased hepatocellular carcinoma incidence
- increased leukemia incidence
- increased lymphoma incidence
- increased macrophage cell number
- increased mortality induced by gamma-irradiation
- increased ovary tumor incidence
- increased sarcoma incidence
- increased single-positive T cell number
- increased thymoma incidence
- increased tumor incidence
- infertility
- insulin resistance
- lethality incomplete penetrance
- male infertility
- neuron degeneration
- ovary degeneration
- oxidative stress
- postnatal growth retardation
- premature death
- seminiferous tubule degeneration
- short stride length
- small lymph nodes
- small ovary
- small spleen
- small testis
- small thymus
- spontaneous chromosome breakage
- thin cerebellar molecular layer
- thymus cortex hypoplasia
role in cell
- expression in
- cell viability
- migration
- phosphorylation in
- proliferation
- survival
- cell cycle progression
- growth
- cell death
- production in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- microsomal fraction
- nuclear fraction
- low-density microsomal fraction
- detergent-insoluble fractions
- peroxisomal matrix
- intracellular membrane-bounded organelle
- spindle apparatus
- Cytoplasm
- cellular membrane
- Plasma Membrane
- vesicles
- centrosome
- cytosol
- nuclear foci
- nucleoplasm
- nucleoli
- nuclear matrix
- cytoplasmic vesicles
- endocytotic vesicle
- peroxisomes
- synaptonemal complexes
- telomeres
- chromatin
- detergent-soluble fraction
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Atm gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitotic cell cycle spindle assembly checkpoint
- mitotic cell cycle G2/M transition DNA damage checkpoint
- reciprocal meiotic recombination
- determination of adult lifespan
- post-embryonic development
- signal transduction in response to DNA damage
- phosphatidylinositol-3-phosphate biosynthetic process
- protein autophosphorylation
- response to hypoxia
- regulation of cell cycle
- neuron apoptotic process
- response to ionizing radiation
- positive regulation of DNA damage response, signal transduction by p53 class mediator
- female meiosis
- male meiosis
- DNA damage response, signal transduction resulting in induction of apoptosis
- regulation of apoptotic process
- macropexophagy
- brain development
- response to DNA damage stimulus
- pre-B cell allelic exclusion
- regulation of telomerase activity
- DNA damage checkpoint
- meiotic telomere clustering
- cellular response to gamma radiation
- cellular response to X-ray
- somitogenesis
- histone mRNA catabolic process
- positive regulation of gene expression
- regulation of autophagy
- peptidyl-serine phosphorylation
- cellular response to reactive oxygen species
- positive regulation of cell migration
- multicellular organism growth
- replicative senescence
- regulation of cellular response to heat
- cellular senescence
- positive regulation of cell adhesion
- positive regulation of transcription from RNA polymerase II promoter
- protein phosphorylation
- double-strand break repair via nonhomologous end joining
- lipoprotein catabolic process
- positive regulation of neuron apoptotic process
- thymus development
- double-strand break repair
- heart development
- chromatin remodeling
- DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
- negative regulation of B cell proliferation
- V(D)J recombination
- DNA double-strand break processing
- signal transduction
- double-strand break repair via homologous recombination
- telomere maintenance
- ovarian follicle development
- oocyte development
- cellular response to retinoic acid
- positive regulation of apoptotic process
- regulation of autophagic vacuole assembly
- positive regulation of telomere maintenance via telomerase
- regulation of telomere maintenance via telomerase
- cellular response to nitrosative stress
Cellular Component
Where in the cell the gene product is active
- site of double-strand break
- peroxisomal matrix
- nucleolus
- nucleoplasm
- chromosome, telomeric region
- nucleus
- centrosome
- cytoplasm
- intracellular membrane-bounded organelle
- spindle
- cytosol
- cytoplasmic vesicle
Molecular Function
What the gene product does at the molecular level
- DNA binding
- DNA-dependent protein kinase activity
- ATP binding
- identical protein binding
- protein binding
- histone kinase activity (H2A-S139 specific)
- protein serine/threonine kinase activity
- 1-phosphatidylinositol-3-kinase activity