ATM

ATM Gene Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]

Details

Type
Retained Intron
Official Symbol
ATM
Official Name
ATM serine/threonine kinase [Source:HGNC Symbol;Acc:HGNC:795]
Ensembl ID
ENSG00000149311
Bio databases IDs NCBI: 472 Ensembl: ENSG00000149311
Aliases ATM serine/threonine kinase, TEL1, telomere maintenance 1, homolog (S. cerevisiae)
Synonyms
AT1,ATA,ataxia telangiectasia mutated,ATC,ATD,ATDC,ATE,ATM serine/threonine kinase,BRCATA,C030026E19RIK,TEL1,TELO1
Species
Human, Homo sapiens

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 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

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • TOP1
  • AP3B2
  • ADGRG2
  • NBN
  • MRE11
  • RAD50
  • ATM
  • TP53
  • EP400
  • HTR6
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
regulated by
  • nilotinib
  • TLR4
  • TP53BP1
  • BRCA1
  • metformin
  • RGS6
  • MRN
  • TP53
  • SQSTM1
  • etoposide
regulates
  • CCND1
  • AKT
  • PI3K (complex)
  • triacylglycerol
  • TNF
  • cholesterol
  • MTOR
  • CDKN1A
  • HMOX1
  • VEGF
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 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

Gene-Specific Assays for Results You Can Trust

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