ATM and CRYAB

		ATM	CRYAB
Description		ATM serine/threonine kinase	crystallin alpha B
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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	Extracellular Region Nucleus Nucleoplasm Cytoplasm Mitochondrion Lysosome Cytosol Plasma Membrane Cell Surface Z Disc Axon M Band I Band Actin Filament Bundle Protein-containing Complex Dendritic Spine Perikaryon Contractile Muscle Fiber Extracellular Exosome Synaptic Membrane Cardiac Myofibril
	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	Amyloid-beta Binding Structural Molecule Activity Structural Constituent Of Eye Lens Protein Binding Microtubule Binding Cytoskeletal Protein Binding Identical Protein Binding Protein Homodimerization Activity Protein-containing Complex Binding Metal Ion Binding Unfolded Protein Binding
	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	Response To Hypoxia Lens Development In Camera-type Eye Protein Folding Muscle Contraction Tubulin Complex Assembly Muscle Organ Development Response To Heat Negative Regulation Of Metabolic Process Negative Regulation Of Gene Expression Negative Regulation Of Cell Growth Microtubule Polymerization Or Depolymerization Negative Regulation Of Protein-containing Complex Assembly Response To Estradiol Negative Regulation Of Intracellular Transport Protein Refolding Response To Hydrogen Peroxide Camera-type Eye Development Negative Regulation Of Apoptotic Process Regulation Of Programmed Cell Death Negative Regulation Of DNA-templated Transcription Protein Stabilization Stress-activated MAPK Cascade Apoptotic Process Involved In Morphogenesis Cellular Response To Gamma Radiation Negative Regulation Of Amyloid Fibril Formation Negative Regulation Of Reactive Oxygen Species Metabolic Process
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	HSF1-dependent transactivation
Drugs		Caffeine
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	Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM)
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)	Birth weight ( 31043758) Hip circumference adjusted for BMI ( 34021172) PR interval ( 32439900)
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	57 interacting genes: - ACOT7 APOC2 APP AVP B2M BAG3 BCL2L1 BMPR2 CAPN3 CASP3 CCL22 CCND1 CRYAA CRYBA1 CRYBB2 CRYGC CRYGD CRYGS CS DDX20 DES EPB41 FCGR2A FGF2 GFAP GORASP2 HBA1 HSPB1 HSPB2 HSPB6 HSPB8 INS KRTAP19-5 KRTAP6-1 KRTAP8-1 LALBA LBH MDH2 MIP MRPL11 NGF PRKAG3 PRNP PSMA3 RBM11 SCN5A SLC13A1 SNCA SOD1 SQSTM1 TIAM1 TNPO2 TRAPPC6A TTN UBE2D1 VEGFA
Entrez ID		472	1410
HPRD ID		06347	00428
Ensembl ID		ENSG00000149311	ENSG00000109846
Uniprot IDs		A0AAQ5BH18 Q13315 Q6P7P1	A0A024R3B9 P02511 V9HW27
PDB IDs		5NP0 5NP1 6HKA 6K9K 6K9L 7NI4 7NI5 7NI6 7SIC 7SID 8OXM 8OXO 8OXP 8OXQ	2KLR 2N0K 2WJ7 2Y1Y 2Y1Z 2Y22 2YGD 3J07 3L1G 3SGM 3SGN 3SGO 3SGP 3SGR 3SGS 4M5S 4M5T 5VVV 6BP9 7ROJ 9BEE
Enriched GO Terms of Interacting Partners?		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	Structural Constituent Of Eye Lens Lens Development In Camera-type Eye Regulation Of Apoptotic Process Regulation Of Programmed Cell Death Response To Stress Negative Regulation Of Programmed Cell Death Regulation Of Neuron Apoptotic Process Negative Regulation Of Apoptotic Process Identical Protein Binding System Process Protein Refolding Regulation Of Transport Response To Metal Ion Regulation Of Autophagy Response To Heat Sensory Perception Regulation Of Multicellular Organismal Process Nervous System Process Apoptotic Process Programmed Cell Death Cellular Response To Metal Ion Positive Regulation Of Growth Cell Death Response To Oxidative Stress Visual Perception Sensory Perception Of Light Stimulus Regulation Of Growth Response To Copper Ion Regulation Of Cell Population Proliferation Positive Regulation Of Multicellular Organismal Process Z Disc Neuron Projection Maintenance Regulation Of Dendritic Spine Maintenance Cellular Response To Stress Response To Unfolded Protein Positive Regulation Of Apoptotic Process Response To Temperature Stimulus Positive Regulation Of Endothelial Cell Chemotaxis Regulation Of Long-term Synaptic Potentiation Regulation Of Protein Localization To Cell Periphery Positive Regulation Of Programmed Cell Death Positive Regulation Of Small Molecule Metabolic Process Positive Regulation Of Endocytosis Cytosol Positive Regulation Of Transport Positive Regulation Of Protein Localization Response To Reactive Oxygen Species Positive Regulation Of Cell Growth Regulation Of Oxidative Stress-induced Intrinsic Apoptotic Signaling Pathway Ovarian Follicle Development
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