TREX1 and ATM

Data Source:
HPRD (in vivo)

		TREX1	ATM
Description		three prime repair exonuclease 1	ATM serine/threonine kinase
Image		No pdb structure
GO Annotations	Cellular Component	Nuclear Envelope Cytoplasm Endoplasmic Reticulum Membrane Cytosol Oligosaccharyltransferase Complex Protein-DNA Complex Nuclear Replication Fork	Chromosome, Telomeric Region Nucleus Nucleoplasm Nucleolus Cytoplasm Spindle Cytoplasmic Vesicle Intracellular Membrane-bounded Organelle DNA Repair Complex
	Molecular Function	Magnesium Ion Binding Double-stranded DNA Binding Single-stranded DNA Binding 3'-5'-exodeoxyribonuclease Activity DNA Binding, Bending 3'-5' Exonuclease Activity Exodeoxyribonuclease III Activity MutLalpha Complex Binding MutSalpha Complex Binding Adenyl Deoxyribonucleotide Binding Protein Homodimerization Activity Metal Ion Binding WW Domain Binding	DNA Binding Protein Serine/threonine Kinase Activity DNA-dependent Protein Kinase Activity Protein Binding ATP Binding 1-phosphatidylinositol-3-kinase Activity Identical Protein Binding Protein-containing Complex Binding Protein N-terminus Binding Protein Serine Kinase Activity Protein Threonine Kinase Activity
	Biological Process	DNA Catabolic Process, Exonucleolytic Blood Vessel Development Kidney Development Activation Of Immune Response Macrophage Activation Involved In Immune Response Lymphoid Progenitor Cell Differentiation Immune Response In Brain Or Nervous System Inflammatory Response To Antigenic Stimulus T Cell Antigen Processing And Presentation Regulation Of Immunoglobulin Production Heart Morphogenesis Heart Process Atrial Cardiac Muscle Tissue Development Generation Of Precursor Metabolites And Energy Regulation Of Glycolytic Process DNA Metabolic Process DNA Replication DNA Repair Mismatch Repair DNA Modification DNA Recombination Determination Of Adult Lifespan Regulation Of Fatty Acid Metabolic Process Transposition, RNA-mediated Regulation Of Type I Interferon Production DNA Duplex Unwinding Regulation Of Tumor Necrosis Factor Production Cellular Response To Reactive Oxygen Species Cellular Response To Interferon-beta CD86 Biosynthetic Process Apoptotic Cell Clearance Regulation Of Cellular Respiration Establishment Of Protein Localization Regulation Of Lipid Biosynthetic Process Regulation Of Inflammatory Response Regulation Of Catalytic Activity Protein Stabilization Regulation Of T Cell Activation Defense Response To Virus Type I Interferon Signaling Pathway Negative Regulation Of Type I Interferon-mediated Signaling Pathway Regulation Of Protein Complex Stability Cellular Response To Gamma Radiation Detection Of Stimulus Involved In Cell Cycle Checkpoint Detection Of DNA Damage Stimulus Involved In DNA Damage Checkpoint Signal Transduction Involved In DNA Damage Checkpoint Cellular Response To Hydroxyurea Immune Complex Formation DNA Synthesis Involved In UV-damage Excision Repair Regulation Of Lysosome Organization	DNA Damage Checkpoint Telomere Maintenance Double-strand Break Repair Via Homologous Recombination DNA Double-strand Break Processing Ovarian Follicle Development Response To Hypoxia Somitogenesis 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 Male Meiotic Nuclear Division Female Meiotic Nuclear Division Signal Transduction Brain Development Heart Development Determination Of Adult Lifespan Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage Post-embryonic Development 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 V(D)J Recombination Multicellular Organism Growth Phosphatidylinositol-3-phosphate Biosynthetic Process Peptidyl-serine Autophosphorylation Lipoprotein Catabolic Process 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 Meiotic Telomere Clustering Positive Regulation Of Cell Adhesion Positive Regulation Of Transcription By RNA Polymerase II Protein Autophosphorylation Thymus Development Oocyte Development Neuron Apoptotic Process 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
Pathways		Regulation by TREX1 IRF3-mediated induction of type I IFN	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
Drugs			Caffeine
Diseases		Familial chilblain lupus (FCL); Chilblain lupus erythematosus (CHLE) Aicardi-Goutieres Syndrome (AGS) Retinal vasculopathy with cerebral leukodystrophy (RVCL)	Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome 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 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) Chronic lymphocytic leukemia (CLL)
GWAS		Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (MOSTest) ( 32665545) Crohn's disease ( 28067908) Inflammatory bowel disease ( 28067908) Mosaic loss of chromosome Y (Y chromosome dosage) ( 31624269) Obesity-related traits ( 23251661) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545) Ulcerative colitis ( 28067908)	Alzheimer's disease (late onset) ( 28714976) Cutaneous malignant melanoma ( 32341527) Eosinophil counts ( 32888494 27863252) Eosinophil percentage of white cells ( 32888494 27863252) Gastric adenocarcinoma (histologically verified) ( 26098866) Gastric cancer ( 26098866) Leukocyte telomere length ( 32109421 31171785) Lymphocyte counts ( 32888494) Mean reticulocyte volume ( 32888494) Melanoma ( 21983787 28212542) Monocyte count ( 32888494) Myeloproliferative neoplasms ( 33057200) Nevus count or cutaneous melanoma ( 32341527 30429480) 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)
Interacting Genes		46 interacting genes: AQP6 ATM ATR CD81 CHCHD2 CLDN22 CRB3 CYB561 CYSRT1 EBP ELOVL4 FAM174A FFAR3 FNDC9 GJA5 GKN1 GPR42 HSD17B13 IFNGR2 IFT20 JAGN1 KRTAP10-7 MCM7 MFSD14B MSH2 NBN PEX12 PRKDC PRND RELL1 RIBC2 RNASEK RPA1 SEC11C SET SLC10A6 SLC22A2 SLC7A14 TM4SF18 TMEM205 TMEM207 TMEM45B TMEM86B TMX2 UBQLN1 VKORC1	98 interacting genes: AATF ABL1 ACTL6B AP1B1 AP2B1 AP3B1 AP3B2 ATR BCAS3 BCL10 BRCA1 BRCA2 CDC6 CDKN2C CHD4 CHEK1 CHEK2 COPS5 CREB1 CRX CSNK1D CXXC5 DAXX DCAF1 DCLRE1C DDX1 DYRK2 E2F1 E4F1 EEF1E1 EIF3E EIF4EBP1 ERRFI1 ESRRG EXO1 FANCD2 FECH FOXO3 H2AX HIF1A HSPA8 IL24 KAT5 KAT8 LIG4 MAP1S MCM2 MCPH1 MDC1 MDM2 MDM4 MRE11 MT-ND4 MTA3 NBN NR4A1 NREP NSD3 OSGIN1 PARP1 PEX5 POLR2A PPP2R5C PRKDC PTCH1 RAD17 RAD51 RAD9A RANBP9 RASSF1 RBBP8 RHEB RNF20 RNF40 RPA1 RPA2 SMC1A SPSB1 STK11 TCL1A TELO2 TERF1 TERF2 TFF1 TIPARP TOP1 TOPBP1 TP53 TP53BP1 TRAF6 TREX1 TRIM29 UCHL3 WRN XPA XRCC5 ZEB1 ZNF821
Entrez ID		11277	472
HPRD ID		09423	06347
Ensembl ID		ENSG00000213689	ENSG00000149311
Uniprot IDs		Q5TZT0 Q9NSU2	A0A024R3C7 Q13315
PDB IDs			5NP0 5NP1 6HKA 6K9K 6K9L
Enriched GO Terms of Interacting Partners?
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