PTCH1 and ATM

Data Source:
BioGRID (enzymatic study)

		PTCH1	ATM
Description		patched 1	ATM serine/threonine kinase
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GO Annotations	Cellular Component	Nucleus Golgi Apparatus Plasma Membrane Caveola Postsynaptic Density Integral Component Of Membrane Midbody Endocytic Vesicle Membrane Intracellular Membrane-bounded Organelle Dendritic Growth Cone Axonal Growth Cone Apical Part Of Cell Perinuclear Region Of Cytoplasm Ciliary Membrane	Chromosome, Telomeric Region Nucleus Nucleoplasm Nucleolus Cytoplasm Spindle Cytoplasmic Vesicle Intracellular Membrane-bounded Organelle DNA Repair Complex
	Molecular Function	Patched Binding Smoothened Binding Protein Binding Hedgehog Receptor Activity Heparin Binding Cholesterol Binding Cyclin Binding Protein-containing Complex Binding Hedgehog Family 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 Branching Involved In Ureteric Bud Morphogenesis In Utero Embryonic Development Cell Fate Determination Neural Tube Closure Heart Morphogenesis Smoothened Signaling Pathway Regulation Of Mitotic Cell Cycle Brain Development Regulation Of Smoothened Signaling Pathway Response To Mechanical Stimulus Animal Organ Morphogenesis Dorsal/ventral Pattern Formation Epidermal Cell Fate Specification Response To Chlorate Positive Regulation Of Cholesterol Efflux Protein Processing Spinal Cord Motor Neuron Differentiation Neural Tube Patterning Neural Plate Axis Specification Embryonic Limb Morphogenesis Prostate Gland Development Response To Estradiol Response To Retinoic Acid Regulation Of Protein Localization Limb Morphogenesis Hindlimb Morphogenesis Negative Regulation Of Multicellular Organism Growth Response To Drug Glucose Homeostasis Negative Regulation Of DNA-binding Transcription Factor Activity Keratinocyte Proliferation Positive Regulation Of Epidermal Cell Differentiation Negative Regulation Of Osteoblast Differentiation Negative Regulation Of Smoothened Signaling Pathway Positive Regulation Of Transcription, DNA-templated Embryonic Organ Development Smooth Muscle Tissue Development Negative Regulation Of Epithelial Cell Proliferation Negative Regulation Of Cell Division Pharyngeal System Development Mammary Gland Duct Morphogenesis Mammary Gland Epithelial Cell Differentiation Smoothened Signaling Pathway Involved In Dorsal/ventral Neural Tube Patterning Cell Differentiation Involved In Kidney Development Somite Development Cellular Response To Cholesterol Commissural Neuron Axon Guidance Cell Proliferation Involved In Metanephros Development Metanephric Collecting Duct Development Protein Localization To Plasma Membrane Liver Regeneration	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		Class B/2 (Secretin family receptors) Hedgehog 'off' state Ligand-receptor interactions Ligand-receptor interactions Hedgehog 'on' state Hedgehog 'on' state Activation of SMO	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		Basal cell nevus syndrome; Nevoid basal cell carcinoma syndrome; Gorlin syndrome Holoprosencephaly (HPE) Basal cell carcinoma	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		3-month functional outcome in ischaemic stroke (modified Rankin score) ( 30796134) Adventurousness ( 30643258) Birth weight ( 31043758 27680694) Bone mineral density (hip) ( 26733130) Bone mineral density (spine) ( 26733130) Brain morphology (MOSTest) ( 32665545) Cortical surface area (visual PC2) ( 32198502) Dental caries (decayed, missing and filled teeth) ( 31533690) Feeling hurt ( 29500382) Feeling worry ( 29500382) Heel bone mineral density ( 30598549 28869591) Height ( 28552196 25282103 25429064 31562340 18391952) Hip circumference adjusted for BMI ( 25673412) Infant length ( 25281659) Lung function (FEV1/FVC) ( 30804560) Lung function (FVC) ( 30804560) Macular thickness ( 30535121) Monobrow ( 27182965) Neurociticism ( 29500382) Nonsyndromic cleft lip with cleft palate ( 28232668) Offspring birth weight ( 31043758) Optic disc size ( 31809533) Pulmonary function ( 20010835) Pulmonary function (smoking interaction) ( 23284291) Thiopurine-induced pancreatitis in inflammatory bowel disease ( 29923122) Type 2 diabetes ( 32499647) Waist circumference adjusted for BMI (adjusted for smoking behaviour) ( 28443625) Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) ( 28448500) Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) ( 28443625) Waist circumference adjusted for BMI in active individuals ( 28448500) Waist circumference adjusted for BMI in non-smokers ( 28443625) Waist circumference adjusted for body mass index ( 25673412 28448500)	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		21 interacting genes: APPBP2 ATG101 ATM CCNB1 CD200R1 CD74 CD79A CDK1 CREB3 DHH FAM209A HIBADH HIPK2 IHH SHH SIGLEC12 SMO STOM TMPRSS2 TSPAN8 YAP1	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		5727	472
HPRD ID		03200	06347
Ensembl ID		ENSG00000185920	ENSG00000149311
Uniprot IDs		Q13635	A0A024R3C7 Q13315
PDB IDs		6DMB 6DMO 6DMY 6E1H 6N7G 6N7H 6N7K 6OEU 6OEV 6RMG 6RTW 6RTX 6RTY 6RVC 6RVD	5NP0 5NP1 6HKA 6K9K 6K9L
Enriched GO Terms of Interacting Partners?
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