ATM and H2AX

Number of citations: 60 (PubMedID 22893124)
Data Source: BioGRID (affinity chromatography technology), HPRD (in vivo)

		ATM	H2AX
Name		ATM serine/threonine kinase	H2A.X variant histone
Structure
GO Annotations	Cellular Component	Chromosome, Telomeric Region Nucleus Nucleoplasm Chromosome Nucleolus Cytoplasm Peroxisome Peroxisomal Matrix Centrosome Spindle Cytosol Cytoskeleton Cytoplasmic Vesicle Site Of Double-strand Break Extrinsic Component Of Synaptic Vesicle Membrane DNA Repair Complex	Chromosome, Telomeric Region Chromatin Nucleosome Condensed Nuclear Chromosome Male Germ Cell Nucleus XY Body Nucleus Nucleoplasm Replication Fork Chromosome Centrosome Nuclear Speck Site Of Double-strand Break Extracellular Exosome Site Of DNA Damage
	Molecular Function	Nucleotide Binding DNA Binding Protein Kinase Activity Protein Serine/threonine Kinase Activity DNA-dependent Protein Kinase Activity Protein Binding ATP Binding Kinase Activity 1-phosphatidylinositol-3-kinase Activity Transferase Activity Histone H2AXS139 Kinase Activity Identical Protein Binding Protein-containing Complex Binding Protein Serine Kinase Activity	DNA Binding Damaged DNA Binding Protein Binding Enzyme Binding Structural Constituent Of Chromatin Histone Binding Protein Heterodimerization Activity Chromatin-protein Adaptor Activity
	Biological Process	Autophagosome Assembly DNA Damage Checkpoint Signaling Pexophagy Telomere Maintenance Double-strand Break Repair Via Homologous Recombination DNA Double-strand Break Processing Ovarian Follicle Development Somitogenesis Pre-B Cell Allelic Exclusion Immune System Process DNA Repair Double-strand Break Repair Double-strand Break Repair Via Nonhomologous End Joining Chromatin Remodeling Protein Phosphorylation Protein Monoubiquitination DNA Damage Response Response To Oxidative Stress Mitotic Spindle Assembly Checkpoint Signaling Mitotic G2 DNA Damage Checkpoint Signaling Meiosis I Reciprocal Meiotic Recombination Male Meiotic Nuclear Division Female Meiotic Nuclear Division Signal Transduction Female Gamete Generation Brain Development Heart Development Determination Of Adult Lifespan Female Gonad Development Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage Post-embryonic Development Response To Ionizing Radiation Regulation Of Gene Expression Regulation Of Autophagy Positive Regulation Of Macromolecule Biosynthetic Process Positive Regulation Of Gene Expression DNA Damage Response, Signal Transduction By P53 Class Mediator Positive Regulation Of Cell Migration Negative Regulation Of B Cell Proliferation SCF-dependent Proteasomal Ubiquitin-dependent Protein Catabolic Process Regulation Of Telomere Maintenance Via Telomerase Positive Regulation Of Telomere Maintenance Via Telomerase V(D)J Recombination Cellular Response To Stress Cellular Response To Reactive Oxygen Species Multicellular Organism Growth Phosphatidylinositol-3-phosphate Biosynthetic Process Peptidyl-serine Autophosphorylation Lipoprotein Catabolic Process Response To Starvation Signal Transduction In Response To DNA Damage Regulation Of Apoptotic Process Positive Regulation Of Apoptotic Process Proteasome-mediated Ubiquitin-dependent Protein Catabolic Process Positive Regulation Of DNA Damage Response, Signal Transduction By P53 Class Mediator Positive Regulation Of Neuron Apoptotic Process Meiotic Telomere Clustering Positive Regulation Of Cell Adhesion Positive Regulation Of Transcription By RNA Polymerase II Protein Autophosphorylation Thymus Development Oocyte Development Protein Stabilization Neuron Apoptotic Process Regulation Of Cell Cycle Chromosome Organization Involved In Meiotic Cell Cycle Protein K63-linked Ubiquitination Histone MRNA Catabolic Process Cellular Response To Retinoic Acid Cellular Response To Gamma Radiation Cellular Response To X-ray Cellular Response To Nitrosative Stress Regulation Of Cellular Response To Stress Cellular Senescence Replicative Senescence Establishment Of RNA Localization To Telomere Establishment Of Protein-containing Complex Localization To Telomere DNA Strand Resection Involved In Replication Fork Processing Regulation Of Cellular Response To Heat Cellular Response To Oxygen-containing Compound Regulation Of Signal Transduction By P53 Class Mediator Negative Regulation Of Signal Transduction By P53 Class Mediator 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 Positive Regulation Of Double-strand Break Repair Via Homologous Recombination Protein Localization To Site Of Double-strand Break Negative Regulation Of Double-strand Break Repair Via Homologous Recombination Positive Regulation Of Double-strand Break Repair Regulation Of Autophagosome Assembly Positive Regulation Of Autophagosome Assembly	DNA Damage Checkpoint Signaling Double-strand Break Repair Via Homologous Recombination DNA Repair Double-strand Break Repair DNA Recombination Nucleosome Assembly DNA Damage Response Spermatogenesis Response To Ionizing Radiation Heterochromatin Formation Positive Regulation Of DNA Repair Meiotic Cell Cycle Protein K63-linked Ubiquitination Positive Regulation Of Double-strand Break Repair Via Homologous Recombination Protein Localization To Site Of Double-strand Break
Pathways		DNA Damage/Telomere Stress Induced Senescence Regulation of HSF1-mediated heat shock response Autodegradation of the E3 ubiquitin ligase COP1 HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) Sensing of DNA Double Strand Breaks Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Resolution of D-loop Structures through Holliday Junction Intermediates Nonhomologous End-Joining (NHEJ) Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange TP53 Regulates Transcription of DNA Repair Genes TP53 Regulates Transcription of Genes Involved in Cytochrome C Release TP53 Regulates Transcription of Caspase Activators and Caspases Regulation of TP53 Activity through Phosphorylation Regulation of TP53 Degradation Regulation of TP53 Activity through Methylation G2/M DNA damage checkpoint Stabilization of p53 Meiotic recombination Pexophagy Defective homologous recombination repair (HRR) due to BRCA1 loss of function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Impaired BRCA2 binding to RAD51 Impaired BRCA2 binding to PALB2	Recognition and association of DNA glycosylase with site containing an affected pyrimidine Cleavage of the damaged pyrimidine Recognition and association of DNA glycosylase with site containing an affected purine Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Cleavage of the damaged purine Meiotic synapsis Packaging Of Telomere Ends Pre-NOTCH Transcription and Translation Formation of the beta-catenin:TCF transactivating complex Formation of the beta-catenin:TCF transactivating complex PRC2 methylates histones and DNA Condensation of Prophase Chromosomes Oxidative Stress Induced Senescence Senescence-Associated Secretory Phenotype (SASP) DNA Damage/Telomere Stress Induced Senescence RMTs methylate histone arginines SIRT1 negatively regulates rRNA expression ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression NoRC negatively regulates rRNA expression NoRC negatively regulates rRNA expression B-WICH complex positively regulates rRNA expression DNA methylation Transcriptional regulation by small RNAs Activation of anterior HOX genes in hindbrain development during early embryogenesis Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Nonhomologous End-Joining (NHEJ) Processing of DNA double-strand break ends Deposition of new CENPA-containing nucleosomes at the centromere Assembly of the ORC complex at the origin of replication G2/M DNA damage checkpoint RNA Polymerase I Promoter Opening RNA Polymerase I Promoter Escape RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs Estrogen-dependent gene expression Meiotic recombination Transcriptional regulation of granulopoiesis Inhibition of DNA recombination at telomere Defective pyroptosis Negative Regulation of CDH1 Gene Transcription Amyloid fiber formation Chromatin modifications during the maternal to zygotic transition (MZT) Replacement of protamines by nucleosomes in the male pronucleus MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Regulation of endogenous retroelements by KRAB-ZFP proteins Regulation of endogenous retroelements by KRAB-ZFP proteins Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) Regulation of PD-L1(CD274) transcription
Drugs		Caffeine	None
Diseases		Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome Chronic lymphocytic leukemia (CLL) Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2) DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome	None
GWAS		Alzheimer's disease (late onset) ( 28714976 ) Cutaneous malignant melanoma ( 32341527 ) Eosinophil count ( 27863252 32888494 ) Eosinophil percentage of white cells ( 27863252 32888494 ) Gastric adenocarcinoma (histologically verified) ( 26098866 ) Gastric cancer ( 26098866 ) Leukocyte telomere length ( 32109421 31171785 ) Lymphocyte count ( 32888494 ) Mean reticulocyte volume ( 32888494 ) Melanoma ( 21983787 28212542 ) Myeloproliferative neoplasms ( 33057200 ) Nevus count or cutaneous melanoma ( 30429480 32341527 ) Nonunion in individuals with fractures ( 30680360 ) Prostate cancer ( 29892016 ) Red blood cell count ( 29403010 ) Refractive error ( 32231278 ) Renal cell carcinoma ( 28598434 ) Response to metformin in type 2 diabetes (glycemic) ( 21186350 ) Rheumatoid arthritis ( 30423114 24390342 ) Sum eosinophil basophil counts ( 27863252 ) Uterine fibroids ( 30194396 )	No GWAS studies recorded
Interacting Genes		135 interacting genes: AATF ABL1 ACTL6B AP1B1 AP2B1 AP3B1 AP3B2 APBB1 ATR BCAS3 BCL10 BRCA1 CDC6 CDKN2C CDX2 CHD4 CHEK1 CHEK2 CHUK COPS5 CREB1 CRX CSNK1A1 CSNK1D CTTN CXXC5 CYREN DAXX DCAF1 DCK DCLRE1C DDX1 DYRK2 E2F1 E4F1 EEF1E1 EIF3E EIF4EBP1 EP400 EPHA5 ERRFI1 ESRRG EXO1 FANCD2 FECH FUS H1-2 H2AX HIF1A HMGA1 HSPA8 IL24 KAT5 KAT8 KPNA1 KPNA3 KPNA5 LCOR LIG4 MAP1S MAPK1 MAPK14 MAPK8 MCM2 MCPH1 MDC1 MDM2 MDM4 MRE11 MT-ND4 MTA3 MUC1 NBN NFE2L2 NHEJ1 NPM1 NR4A1 NREP NSD3 OSGIN1 PAN2 PARP1 PCNA PEX5 PIDD1 POLL POLR2A PPP2R1A PPP2R5C PRKAA1 PRKDC PTCH1 PTEN RAD17 RAD50 RAD51 RAD9A RANBP9 RASSF1 RBBP8 RHEB RNF20 RNF40 RPA1 RPA2 RPS6KA1 RPS6KA3 SIN3A SMARCA4 SMC1A SPOP SPSB1 STK11 TCL1A TERF1 TERF2 TFF1 TIPARP TOP1 TOP2A TOPBP1 TP53 TP53BP1 TRAF6 TREX1 TRIM29 TTI1 UCHL3 USP37 VAC14 WRN XPA XRCC5 ZEB1 ZNF821	47 interacting genes: A2M ACTB ALG9 ATM ATR BAZ1B BMI1 BRCA1 BRCA2 BRD1 CALM1 COPG1 CTBP1 DDX21 EYA1 GRB2 HDAC6 HUWE1 KAT5 MAPK8 MASP1 MDC1 MRE11 MUC1 NBN NCL NGFR OTUB1 PAXIP1 PBK PPP1CA PRKDC PTEN PTPA QARS1 RNF8 RPS6KA3 SMARCA4 SUPT5H TAF1C TAF5L TERF2 TIAM2 TP53BP1 TRAF6 TSSK6 WRN
Entrez ID		472	3014
HPRD ID		06347	03465
Ensembl ID		ENSG00000149311	ENSG00000188486
Uniprot IDs		A0AAQ5BH18 Q13315 Q6P7P1	P16104
PDB IDs		5NP0 5NP1 6HKA 6K9K 6K9L 7NI4 7NI5 7NI6 7SIC 7SID 8OXM 8OXO 8OXP 8OXQ	1YDP 2AZM 2D31 2DYP 3SHV 3SQD 3SZM 3U3Z 6K1I 6K1J 6K1K 6ZWK 7YQK
GO Terms Enriched among Interactors		DNA Damage Response Nucleoplasm DNA Metabolic Process Cellular Response To Stress Nucleus DNA Repair Regulation Of Cell Cycle Signal Transduction In Response To DNA Damage Regulation Of Primary Metabolic Process Double-strand Break Repair Response To Ionizing Radiation Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Cell Cycle Phase Transition Regulation Of Macromolecule Metabolic Process Regulation Of Cell Cycle Process Negative Regulation Of Cell Cycle Process DNA Damage Checkpoint Signaling Response To Radiation Response To Stress Negative Regulation Of Cell Cycle Positive Regulation Of Nucleobase-containing Compound Metabolic Process Regulation Of Metabolic Process Nucleic Acid Metabolic Process Regulation Of Mitotic Cell Cycle Negative Regulation Of Cell Cycle Phase Transition Intracellular Signal Transduction Positive Regulation Of Macromolecule Metabolic Process Regulation Of DNA Metabolic Process DNA Recombination Chromosome Organization Chromosome, Telomeric Region Regulation Of Cellular Response To Stress Response To Gamma Radiation Site Of Double-strand Break Chromosome Nucleobase-containing Compound Metabolic Process Protein Localization To Site Of Double-strand Break Mitotic DNA Integrity Checkpoint Signaling Positive Regulation Of Metabolic Process Protein Localization To Organelle Enzyme Binding Macromolecule Metabolic Process Mitotic DNA Damage Checkpoint Signaling Regulation Of Double-strand Break Repair Chromatin Organization Regulation Of DNA Repair DNA Binding Negative Regulation Of Mitotic Cell Cycle Recombinational Repair Negative Regulation Of Nucleobase-containing Compound Metabolic Process	Regulation Of Cellular Response To Stress Regulation Of DNA Repair DNA Damage Response Signal Transduction In Response To DNA Damage Positive Regulation Of DNA Metabolic Process Positive Regulation Of Nucleobase-containing Compound Metabolic Process Chromatin Organization Chromatin Remodeling Regulation Of DNA Metabolic Process DNA Repair Double-strand Break Repair Protein Localization To Site Of Double-strand Break Response To Ionizing Radiation Regulation Of Double-strand Break Repair Nucleoplasm Positive Regulation Of Metabolic Process Regulation Of Nucleobase-containing Compound Metabolic Process DNA Metabolic Process Cellular Response To Stress Positive Regulation Of Macromolecule Metabolic Process Positive Regulation Of DNA Repair Regulation Of Cell Cycle Process Protein Localization To Chromosome Response To Radiation DNA Strand Resection Involved In Replication Fork Processing Chromosome, Telomeric Region Regulation Of Primary Metabolic Process Intracellular Signal Transduction Double-strand Break Repair Via Nonhomologous End Joining Regulation Of DNA Recombination Nucleic Acid Metabolic Process Positive Regulation Of Double-strand Break Repair DNA Damage Checkpoint Signaling Telomere Maintenance Regulation Of Cell Cycle Phase Transition Negative Regulation Of Cell Cycle Process Regulation Of Cell Cycle Chromosome Positive Regulation Of DNA Recombination Positive Regulation Of RNA Metabolic Process Regulation Of Macromolecule Metabolic Process Response To Stress Telomere Organization Positive Regulation Of DNA-templated Transcription Positive Regulation Of RNA Biosynthetic Process Regulation Of Metabolic Process Negative Regulation Of Cell Cycle Nucleus Negative Regulation Of Cell Cycle Phase Transition Mitotic DNA Damage Checkpoint Signaling