MCPH1 and ATM

Data Source:
BioGRID (enzymatic study, imaging technique)

		MCPH1	ATM
Description		microcephalin 1	ATM serine/threonine kinase
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GO Annotations	Cellular Component	Nucleoplasm Cytoplasm Microtubule Organizing Center	Chromosome, Telomeric Region Nucleus Nucleoplasm Nucleolus Cytoplasm Spindle Cytoplasmic Vesicle Intracellular Membrane-bounded Organelle DNA Repair Complex
	Molecular Function	Protein Binding Identical Protein 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	Negative Regulation Of Transcription By RNA Polymerase II Establishment Of Mitotic Spindle Orientation Mitotic Cell Cycle Cerebral Cortex Development Regulation Of Kinase Activity Regulation Of Centrosome Cycle Regulation Of Inflammatory Response Bone Development Regulation Of Chromosome Condensation Protein Localization To Centrosome Mitotic Cell Cycle Arrest Neuronal Stem Cell Population Maintenance	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		Condensation of Prophase Chromosomes	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		Primary microcephaly (MCPH)	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		Alcoholic chronic pancreatitis ( 28754779) Birth weight ( 31043758) Carotid intima media thickness ( 30510157) Carotid intima media thickness (mean) ( 31801372) Cytomegalovirus antibody response ( 21993531) Diastolic blood pressure ( 30224653) Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Epirubicin-induced leukopenia ( 21799462) Estimated glomerular filtration rate ( 31152163) Gut microbiota relative abundance (Faecalibacterium) ( 33208821) Heel bone mineral density ( 30598549) Intraocular pressure ( 29785010) Metabolite levels ( 23823483) Post bronchodilator FEV1/FVC ratio ( 26634245) Venlafaxine response in generalised anxiety disorder (remitters vs non-remitters after 24 weeks) ( 28437668)	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		68 interacting genes: ABCC2 ACTG1 AKIP1 AKR7A2 ATM ATR B3GALT6 CCDC77 CCT5 CHEK1 COL1A1 COL27A1 COPB2 COPS3 CTSL DNAJA3 DNAJC19 EIF3F EIF4A2 EMG1 ENO1 FBLN1 FLNA GABARAPL2 HNRNPA2B1 HSPD1 KAT5 KDM1A LAMTOR5 LGALS3 MCM2 MCM5 MITD1 MRPL46 MT2A NCCRP1 NMI NR2F1 OBSL1 PHF11 PMVK POLD1 POLR2G PPA1 PPRC1 RACK1 RBM39 RSL24D1 RUVBL2 S100A16 SMARCB1 SMARCC2 SMOX SUPT6H TADA2A TAF1D THAP11 TPT1 TRAP1 TSEN54 UXT VIM WDR53 WDR61 WDR73 WDR75 WNT10B ZMIZ2	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		79648	472
HPRD ID		06174	06347
Ensembl ID		ENSG00000147316	ENSG00000149311
Uniprot IDs		Q8NEM0	A0A024R3C7 Q13315
PDB IDs		2WT8 3KTF 3PA6 3SHT 3SHV 3SZM 3T1N 3U3Z 7C5D	5NP0 5NP1 6HKA 6K9K 6K9L
Enriched GO Terms of Interacting Partners?
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