ATM

ATM serine/threonine kinase, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 11:108223043-108369102

Previous symbols: [ "ATA", "ATDC", "ATC", "ATD" ]

Links

ENSG00000149311 ∙ NCBI:472 ∙ OMIM:607585 ∙ HGNC:795 ∙ Uniprot:Q13315 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• ataxia telangiectasia (Definitive), mode of inheritance: AR
• sarcoma (Moderate), mode of inheritance: AD
• ataxia telangiectasia (Strong), mode of inheritance: AR
• ataxia telangiectasia (Definitive), mode of inheritance: AR
• hereditary breast carcinoma (Definitive), mode of inheritance: AD
• ataxia telangiectasia (Definitive), mode of inheritance: AR
• ataxia telangiectasia (Supportive), mode of inheritance: AR
• prostate cancer (Limited), mode of inheritance: AD
• ataxia telangiectasia (Strong), mode of inheritance: AR
• familial ovarian cancer (Limited), mode of inheritance: AD
• hereditary nonpolyposis colon cancer (Moderate), mode of inheritance: AD
• hereditary breast carcinoma (Definitive), mode of inheritance: AD
• ataxia telangiectasia (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Breast cancer, susceptibility to; Ataxia-Telangiectasia	AD/AR	Allergy/Immunology/Infectious; Oncologic	For breast cancer, susceptibility to, awareness of the risk of malignancy may allow surveillance, preventive measures, and early diagnosis and treatment; In Ataxia-Telangiectasia, for infectious complications, prophylaxis and early and aggressive treatment of infections can be beneficial; Surveillance for malignancy can be beneficial; Precautions should be taken related to ionizing radiation and chemotherapeutic regimens (eg, related to dosage)	Allergy/Immunology/Infectious; Neurologic; Oncologic; Ophthalmologic	311128; 4515676; 4132004; 310962; 7124732; 3496017; 3785360; 3788973; 3574400; 2916583; 2136770; 2253179; 2005780; 1961222; 1304718; 1377828; 8365732; 7836845; 7792600; 8976369; 9054927; 9259193; 9054948; 9463314; 10571946; 10425038; 9887333; 10677309; 10980530; 11826028; 12226795; 12552559; 15942625; 16864838; 16832357; 19535770; 19440741; 20301790; 21429505; 23264026; 23612382; 23900766; 25186627; 25330149
Though the evidence is overall difficult to interpret, heterozygotes may be at increased risk of a number of types of malignancies

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ATM gene.

• Ataxia-telangiectasia syndrome (11378 variants)
• Hereditary cancer-predisposing syndrome (8962 variants)
• not provided (2606 variants)
• Familial cancer of breast (1579 variants)
• not specified (1561 variants)
• Breast and/or ovarian cancer (268 variants)
• Malignant tumor of breast (231 variants)
• Hereditary breast ovarian cancer syndrome (214 variants)
• Familial cancer of breast;Ataxia-telangiectasia syndrome (154 variants)
• Ataxia-telangiectasia syndrome;Familial cancer of breast (103 variants)
• ATM-related condition (100 variants)
• Gastric cancer (55 variants)
• Malignant tumor of urinary bladder (18 variants)
• Carcinoma of colon (17 variants)
• Ovarian cancer (16 variants)
• Breast carcinoma (15 variants)
• Hereditary cancer (13 variants)
• Abnormal central motor function (12 variants)
• Familial ovarian cancer (11 variants)
• Tip-toe gait (11 variants)
• Ataxia-telangiectasia syndrome;Malignant tumor of breast (10 variants)
• Inborn genetic diseases (9 variants)
• Breast cancer, susceptibility to;Ataxia-telangiectasia syndrome (8 variants)
• Familial pancreatic carcinoma (8 variants)
• Endometrial carcinoma (7 variants)
• Ataxia - telangiectasia variant (6 variants)
• Ataxia-telangiectasia syndrome;Breast cancer, susceptibility to (6 variants)
• Breast cancer, susceptibility to (6 variants)
• See cases (5 variants)
• ATM-related disorders (5 variants)
• Breast-ovarian cancer, familial, susceptibility to, 1 (4 variants)
• T-cell prolymphocytic leukemia (4 variants)
• Carcinoma of pancreas (4 variants)
• Malignant tumor of breast;Ataxia-telangiectasia syndrome (4 variants)
• Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome (3 variants)
• Familial prostate carcinoma (3 variants)
• Breast neoplasm (3 variants)
• Microcephaly (2 variants)
• Diffuse midline glioma, H3 K27-altered (2 variants)
• Ataxia telangiectasi (2 variants)
• Hepatoblastoma (2 variants)
• Malignant tumor of prostate (2 variants)
• Adenocarcinoma (1 variants)
• Ataxia-telangiectasia without immunodeficiency (1 variants)
• Colorectal cancer, susceptibility to, 1 (1 variants)
• Clear cell carcinoma of kidney (1 variants)
• B-cell non-Hodgkin lymphoma (1 variants)
• Triple-negative breast carcinoma (1 variants)
• Astroblastoma, MN1-altered (1 variants)
• Seizure (1 variants)
• Ataxia-telangiectasia syndrome;Hereditary cancer (1 variants)
• Uterine corpus cancer (1 variants)
• Malignant tumor of thyroid gland (1 variants)
• Cerebellar ataxia (1 variants)
• Bile duct cancer (1 variants)
• Cerebellar ataxia;Seizure (1 variants)
• ATM-related disorder (1 variants)
• Colonic neoplasm (1 variants)
• Hereditary cancer-predisposing syndrome;Ataxia-telangiectasia syndrome (1 variants)
• Breast cancer, early-onset (1 variants)
• Malignant neoplasm of brain (1 variants)
• CUP (carcinoma unknown primary) syndrome (1 variants)
• Bilateral breast carcinoma (1 variants)
• Multifocal breast carcinoma (1 variants)
• Ovarian carcinoma (1 variants)
• Glioblastoma (1 variants)
• Colorectal cancer (1 variants)
• Lynch syndrome 1 (1 variants)
• Astrocytoma IDH-mutant (1 variants)
• Malignant glioma (1 variants)
• ATM-related cancer predisposition syndrome (1 variants)
• Prostate neoplasm (1 variants)
• Cerebellar ataxia;Oculomotor apraxia;Conjunctival telangiectasia;Immunodeficiency (1 variants)
• Hereditary breast cancer (1 variants)
• Colorectal polyposis (1 variants)
• Diffuse hemispheric glioma, H3 G34-mutant (1 variants)
• Multiple endocrine neoplasia, type 1 (1 variants)
• ATM-related cancer susceptibility (1 variants)
• Mantle cell lymphoma (1 variants)
• Papillary thyroid carcinoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATM gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous		3	32	2336	4	2375
missense	9	53	6522	37	17	6638
nonsense	479	183	8	2		672
start loss	1	3				4
frameshift	1065	338	8			1411
inframe indel	2	6	179	1		188
splice donor/acceptor (+/-2bp)	83	347	17	7	3	457
splice region	4	30	356	372	9	771
non coding	4	16	190	1284	152	1646
Total	1643	949	6956	3667	176

Highest pathogenic variant AF is 0.000197

Variants in ATM

This is a list of pathogenic ClinVar variants found in the ATM region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-108223046-G-A		not specified	Uncertain significance (Jun 14, 2021)
11-108223070-T-C		not specified	Uncertain significance (Aug 14, 2019)
11-108223090-A-G		not specified	Uncertain significance (Sep 28, 2020)
11-108223106-G-A		Ataxia-telangiectasia syndrome	Benign (Jan 22, 2024)
11-108223106-GCG-AC		Ataxia-telangiectasia syndrome	Uncertain significance (Sep 18, 2017)
11-108223123-G-A		Ataxia-telangiectasia syndrome • not specified	Uncertain significance (Dec 03, 2021)
11-108223143-G-A		Ataxia-telangiectasia syndrome	Uncertain significance (Jan 13, 2018)
11-108223170-A-G		not specified	Likely benign (Aug 19, 2016)
11-108223174-T-G		not specified	Likely benign (May 04, 2016)
11-108223175-C-T		not specified	Likely benign (Sep 26, 2016)
11-108223183-A-G			Uncertain significance (Oct 07, 2016)
11-108223183-A-AGT		not specified	Uncertain significance (Jan 04, 2017)
11-108223190-G-C			Benign (Mar 03, 2015)
11-108223192-G-T		not specified	Likely benign (Feb 24, 2017)
11-108223192-G-GTGT		Hereditary cancer-predisposing syndrome	Likely benign (Jun 09, 2020)
11-108223194-C-T		not specified	Benign (Mar 09, 2015)
11-108223198-G-A		not specified	Likely benign (Apr 28, 2017)
11-108223424-G-A		not specified	Likely benign (Aug 15, 2023)
11-108223781-G-A		Ataxia-telangiectasia syndrome	Uncertain significance (Feb 09, 2017)
11-108224315-T-A		Hereditary cancer-predisposing syndrome	Likely benign (Dec 01, 2015)
11-108224321-C-T		Hereditary cancer-predisposing syndrome	Likely benign (Dec 01, 2015)
11-108224968-A-C		Hereditary cancer-predisposing syndrome	Likely benign (Dec 01, 2015)
11-108227415-C-T			Likely benign (Jun 18, 2018)
11-108227516-A-G			Benign (Jun 21, 2018)
11-108227542-A-C			Benign (Mar 03, 2015)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ATM	protein_coding	protein_coding	ENST00000278616	62	146619

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.59e-47	1.00	125385	0	363	125748	0.00144

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.10	1411	1.53e+3	0.921	0.0000775	20140
Missense in Polyphen		261	364.09	0.71686		4832
Synonymous	-0.864	555	530	1.05	0.0000264	5525
Loss of Function	4.82	103	171	0.603	0.00000911	2183

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00256	0.00256
Ashkenazi Jewish	0.000695	0.000695
East Asian	0.00158	0.00147
Finnish	0.000371	0.000370
European (Non-Finnish)	0.00172	0.00172
Middle Eastern	0.00158	0.00147
South Asian	0.00127	0.00124
Other	0.00197	0.00196

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Serine/threonine protein kinase which activates checkpoint signaling upon double strand breaks (DSBs), apoptosis and genotoxic stresses such as ionizing ultraviolet A light (UVA), thereby acting as a DNA damage sensor. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX at double strand breaks (DSBs), thereby regulating DNA damage response mechanism. Also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. After the introduction of DNA breaks by the RAG complex on one immunoglobulin allele, acts by mediating a repositioning of the second allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. Also involved in signal transduction and cell cycle control. May function as a tumor suppressor. Necessary for activation of ABL1 and SAPK. Phosphorylates DYRK2, CHEK2, p53/TP53, FANCD2, NFKBIA, BRCA1, CTIP, nibrin (NBN), TERF1, RAD9 and DCLRE1C. May play a role in vesicle and/or protein transport. Could play a role in T-cell development, gonad and neurological function. Plays a role in replication-dependent histone mRNA degradation. Binds DNA ends. Phosphorylation of DYRK2 in nucleus in response to genotoxic stress prevents its MDM2-mediated ubiquitination and subsequent proteasome degradation. Phosphorylates ATF2 which stimulates its function in DNA damage response. {ECO:0000269|PubMed:10973490, ECO:0000269|PubMed:12556884, ECO:0000269|PubMed:14871926, ECO:0000269|PubMed:15916964, ECO:0000269|PubMed:16086026, ECO:0000269|PubMed:16858402, ECO:0000269|PubMed:17923702, ECO:0000269|PubMed:19431188, ECO:0000269|PubMed:19965871}.
• Disease: DISEASE: Ataxia telangiectasia (AT) [MIM:208900]: A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation. {ECO:0000269|PubMed:10234507, ECO:0000269|PubMed:10425038, ECO:0000269|PubMed:10817650, ECO:0000269|PubMed:10873394, ECO:0000269|PubMed:19431188, ECO:0000269|PubMed:27664052, ECO:0000269|PubMed:7792600, ECO:0000269|PubMed:8589678, ECO:0000269|PubMed:8665503, ECO:0000269|PubMed:8698354, ECO:0000269|PubMed:8755918, ECO:0000269|PubMed:8789452, ECO:0000269|PubMed:8797579, ECO:0000269|PubMed:8808599, ECO:0000269|PubMed:8845835, ECO:0000269|PubMed:9043869, ECO:0000269|PubMed:9150358, ECO:0000269|PubMed:9443866, ECO:0000269|PubMed:9450874, ECO:0000269|PubMed:9463314, ECO:0000269|PubMed:9497252, ECO:0000269|PubMed:9521587, ECO:0000269|PubMed:9711876, ECO:0000269|PubMed:9792409, ECO:0000269|PubMed:9792410, ECO:0000269|PubMed:9872980, ECO:0000269|PubMed:9887333}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Note=Defects in ATM may contribute to T-cell acute lymphoblastic leukemia (TALL) and T-prolymphocytic leukemia (TPLL). TPLL is characterized by a high white blood cell count, with a predominance of prolymphocytes, marked splenomegaly, lymphadenopathy, skin lesions and serous effusion. The clinical course is highly aggressive, with poor response to chemotherapy and short survival time. TPLL occurs both in adults as a sporadic disease and in younger AT patients. {ECO:0000269|PubMed:9288106, ECO:0000269|PubMed:9334731, ECO:0000269|PubMed:9463314, ECO:0000269|PubMed:9488043, ECO:0000269|PubMed:9573030}.; DISEASE: Note=Defects in ATM may contribute to B-cell non-Hodgkin lymphomas (BNHL), including mantle cell lymphoma (MCL). {ECO:0000269|PubMed:10397742, ECO:0000269|PubMed:10706620, ECO:0000269|PubMed:9288106}.; DISEASE: Note=Defects in ATM may contribute to B-cell chronic lymphocytic leukemia (BCLL). BCLL is the commonest form of leukemia in the elderly. It is characterized by the accumulation of mature CD5+ B-lymphocytes, lymphadenopathy, immunodeficiency and bone marrow failure. {ECO:0000269|PubMed:10023947, ECO:0000269|PubMed:10397742, ECO:0000269|PubMed:9892178}.
• Pathway: Cell cycle - Homo sapiens (human);p53 signaling pathway - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Homologous recombination - Homo sapiens (human);MicroRNAs in cancer - Homo sapiens (human);Transcriptional misregulation in cancer - Homo sapiens (human);Apoptosis - Homo sapiens (human);NF-kappa B signaling pathway - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Metformin Pathway, Pharmacodynamic;Cell Cycle;miRNA Regulation of DNA Damage Response;miRNAs involved in DNA damage response;TP53 Network;Homologous recombination;Signaling Pathways in Glioblastoma;ATM Signaling Pathway;DDX1 as a regulatory component of the Drosha microprocessor;Ovarian Infertility Genes;Pathways Affected in Adenoid Cystic Carcinoma;Hematopoietic Stem Cell Gene Regulation by GABP alpha-beta Complex;TP53 Regulates Transcription of DNA Repair Genes;ATM Signaling Network in Development and Disease;DNA IR-Double Strand Breaks (DSBs) and cellular response via ATM;miRNA regulation of p53 pathway in prostate cancer;DNA IR-damage and cellular response via ATR;apoptotic signaling in response to dna damage;G1 to S cell cycle control;DNA Damage Response;DNA Damage Response (only ATM dependent);HDR through Single Strand Annealing (SSA);HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA);DNA Repair;Gene expression (Transcription);Nonhomologous End-Joining (NHEJ);DNA Double-Strand Break Repair;hypoxia and p53 in the cardiovascular system;role of brca1 brca2 and atr in cancer susceptibility;tumor suppressor arf inhibits ribosomal biogenesis;cdc25 and chk1 regulatory pathway in response to dna damage;cell cycle: g1/s check point;regulation of cell cycle progression by plk3;Generic Transcription Pathway;Regulation of HSF1-mediated heat shock response;DNA Damage/Telomere Stress Induced Senescence;Cellular Senescence;Homology Directed Repair;Cellular responses to stress;TP53 Regulates Transcription of Cell Death Genes;RNA Polymerase II Transcription;Autodegradation of the E3 ubiquitin ligase COP1;Stabilization of p53;p53-Dependent G1 DNA Damage Response;p53-Dependent G1/S DNA damage checkpoint;Ubiquitin Mediated Degradation of Phosphorylated Cdc25A;p53-Independent DNA Damage Response;p53-Independent G1/S DNA damage checkpoint;G1/S DNA Damage Checkpoints;G2/M DNA damage checkpoint;G2/M Checkpoints;Cell Cycle Checkpoints;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;cell cycle: g2/m checkpoint;TP53 Regulates Transcription of Caspase Activators and Caspases;Cellular responses to external stimuli;atm signaling pathway;TP53 Regulates Transcription of DNA Repair Genes;Fanconi anemia pathway;rb tumor suppressor/checkpoint signaling in response to dna damage;Regulation of TP53 Degradation;Regulation of TP53 Expression and Degradation;Cellular response to heat stress;Regulation of TP53 Activity through Phosphorylation;Regulation of TP53 Activity through Methylation;Regulation of TP53 Activity;Transcriptional Regulation by TP53;Sensing of DNA Double Strand Breaks;Cell Cycle;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;DNA Double Strand Break Response;Canonical NF-kappaB pathway;Regulation of Telomerase;Validated transcriptional targets of deltaNp63 isoforms;BARD1 signaling events;Processing of DNA double-strand break ends;p38 MAPK signaling pathway;ATM pathway;E2F transcription factor network;p53 pathway;Presynaptic phase of homologous DNA pairing and strand exchange;Homologous DNA Pairing and Strand Exchange;Resolution of D-loop Structures through Holliday Junction Intermediates;Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA);Resolution of D-Loop Structures;HDR through Homologous Recombination (HRR) (Consensus)

Recessive Scores

• pRec: 0.158

Intolerance Scores

• loftool: 0.782
• rvis_EVS: 1.53
• rvis_percentile_EVS: 95.51

Haploinsufficiency Scores

• pHI: 0.170
• hipred: Y
• hipred_score: 0.747
• ghis: 0.531

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• gene_indispensability_pred: E
• gene_indispensability_score: 0.915

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Atm
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); immune system phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); neoplasm; endocrine/exocrine gland phenotype; cellular phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype

Gene ontology

• Biological process: DNA damage checkpoint;telomere maintenance;DNA double-strand break processing;response to hypoxia;pre-B cell allelic exclusion;DNA replication;double-strand break repair via nonhomologous end joining;protein phosphorylation;cellular response to DNA damage stimulus;DNA damage induced protein phosphorylation;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;cell cycle arrest;mitotic spindle assembly checkpoint;reciprocal meiotic recombination;signal transduction;intrinsic apoptotic signaling pathway in response to DNA damage;response to ionizing radiation;regulation of autophagy;positive regulation of gene expression;histone phosphorylation;peptidyl-serine phosphorylation;positive regulation of cell migration;negative regulation of B cell proliferation;regulation of telomere maintenance via telomerase;positive regulation of telomere maintenance via telomerase;positive regulation of histone phosphorylation;phosphatidylinositol-3-phosphate biosynthetic process;peptidyl-serine autophosphorylation;regulation of apoptotic process;positive regulation of apoptotic process;positive regulation of DNA damage response, signal transduction by p53 class mediator;positive regulation of neuron apoptotic process;positive regulation of cell adhesion;positive regulation of transcription by RNA polymerase II;protein autophosphorylation;regulation of telomerase activity;histone mRNA catabolic process;cellular response to retinoic acid;cellular response to gamma radiation;cellular response to X-ray;cellular response to nitrosative stress;signal transduction involved in mitotic G2 DNA damage checkpoint;replicative senescence;establishment of RNA localization to telomere;establishment of protein-containing complex localization to telomere;regulation of cellular response to heat;regulation of signal transduction by p53 class mediator;positive regulation of DNA catabolic process;regulation of microglial cell activation;negative regulation of TORC1 signaling;negative regulation of telomere capping;positive regulation of telomere maintenance via telomere lengthening;positive regulation of telomerase catalytic core complex assembly;regulation of cellular response to gamma radiation
• Cellular component: chromosome, telomeric region;nuclear chromosome, telomeric region;nucleus;nucleoplasm;nucleolus;cytoplasmic vesicle;DNA repair complex
• Molecular function: DNA binding;protein serine/threonine kinase activity;DNA-dependent protein kinase activity;protein binding;ATP binding;1-phosphatidylinositol-3-kinase activity;protein-containing complex binding;protein dimerization activity;protein N-terminus binding