Ataxia telangiectasia mutated

ATM
Identifiers
Aliases	ATM, ATM serine/threonine kinase, AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1, ataxia-telangiectasia mutated
External IDs	OMIM: 607585 MGI: 107202 HomoloGene: 30952 GeneCards: ATM
Genetically Related Diseases
melanoma
Gene ontology Molecular function • transferase activity • DNA binding • nucleotide binding • protein kinase activity • DNA-dependent protein kinase activity • protein dimerization activity • protein N-terminus binding • protein complex binding • 1-phosphatidylinositol-3-kinase activity • kinase activity • protein serine/threonine kinase activity • protein binding • ATP binding Cellular component • cytoplasm • DNA repair complex • spindle • nucleoplasm • chromosome, telomeric region • nuclear chromosome, telomeric region • cytoplasmic vesicle • nucleus Biological process • somitogenesis • response to ionizing radiation • neuron apoptotic process • reciprocal meiotic recombination • DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest • response to hypoxia • telomere maintenance via telomerase • female gamete generation • determination of adult lifespan • phosphorylation • establishment of macromolecular complex localization to telomere • meiotic telomere clustering • peptidyl-serine autophosphorylation • DNA damage checkpoint • regulation of telomerase activity • positive regulation of telomerase catalytic core complex assembly • positive regulation of telomere maintenance via telomerase • positive regulation of neuron death • mitotic spindle assembly checkpoint • oocyte development • cellular response to DNA damage stimulus • lipoprotein catabolic process • regulation of cell cycle • protein phosphorylation • heart development • brain development • positive regulation of histone phosphorylation • positive regulation of neuron apoptotic process • negative regulation of telomere capping • positive regulation of telomere maintenance via telomere lengthening • peptidyl-serine phosphorylation • cell cycle arrest • cellular response to gamma radiation • intrinsic apoptotic signaling pathway in response to DNA damage • V(D)J recombination • positive regulation of apoptotic process • regulation of cellular response to heat • pre-B cell allelic exclusion • cell cycle • histone mRNA catabolic process • cellular response to nitrosative stress • positive regulation of DNA damage response, signal transduction by p53 class mediator • double-strand break repair via nonhomologous end joining • negative regulation of B cell proliferation • signal transduction involved in mitotic G2 DNA damage checkpoint • signal transduction • establishment of RNA localization to telomere • apoptotic process • DNA replication • DNA double-strand break processing • regulation of signal transduction by p53 class mediator • regulation of autophagy • phosphatidylinositol-3-phosphate biosynthetic process • cellular response to X-ray • double-strand break repair via homologous recombination • strand displacement • DNA synthesis involved in DNA repair • regulation of apoptotic process • negative regulation of TORC1 signaling • ovarian follicle development • immune system process • immunoglobulin production • DNA damage induced protein phosphorylation • male meiosis • female meiotic division • female gonad development • post-embryonic development • multicellular organism growth • protein autophosphorylation • thymus development • chromosome organization involved in meiotic cell cycle • replicative senescence • DNA repair Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	472	11920
Ensembl	ENSG00000149311	ENSMUSG00000034218
UniProt	Q13315	Q62388
RefSeq (mRNA)	NM_000051 NM_138292 NM_138293	NM_007499
RefSeq (protein)	NP_000042 NP_000042.3	NP_031525.2 NP_031525
Location (UCSC)	Chr 11: 108.22 – 108.37 Mb	Chr 9: 53.44 – 53.54 Mb
PubMed search

472

11920

ENSG00000149311

ENSMUSG00000034218

Q13315

Q62388

NM_000051
NM_138292
NM_138293

NM_007499

NP_000042
NP_000042.3

NP_031525.2
NP_031525

ATM serine/threonine kinase, symbol ATM, is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks. It phosphorylates several key proteins that initiate activation of the DNA damage checkpoint, leading to cell cycle arrest, DNA repair or apoptosis. Several of these targets, including p53, CHK2, BRCA1, NBS1 and H2AX are tumor suppressors.

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