NOTCH1 and TOR1A

		NOTCH1	TOR1A
Description		notch receptor 1	torsin family 1 member A
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GO Annotations	Cellular Component	Golgi Membrane Acrosomal Vesicle MAML1-RBP-Jkappa- ICN1 Complex Extracellular Region Nucleus Nucleoplasm Endoplasmic Reticulum Membrane Cytosol Plasma Membrane Adherens Junction Cell Surface Integral Component Of Membrane Apical Plasma Membrane Receptor Complex	Nuclear Envelope Endoplasmic Reticulum Endoplasmic Reticulum Lumen Cytosol Cytoskeleton Synaptic Vesicle Membrane Secretory Granule Growth Cone Cytoplasmic Vesicle Membrane Nuclear Membrane Extrinsic Component Of Endoplasmic Reticulum Membrane Intracellular Membrane-bounded Organelle Extracellular Exosome
	Molecular Function	Transcription Coactivator Activity Enzyme Inhibitor Activity Transmembrane Signaling Receptor Activity Notch Binding Calcium Ion Binding Protein Binding Enzyme Binding Chromatin DNA Binding Identical Protein Binding	Protein Binding ATP Binding Cytoskeletal Protein Binding ATP Hydrolysis Activity Kinesin Binding Identical Protein Binding Unfolded Protein Binding Misfolded Protein Binding
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II In Utero Embryonic Development Cell Fate Specification Epithelial To Mesenchymal Transition Liver Development Heart Looping Sprouting Angiogenesis Positive Regulation Of Neuroblast Proliferation Inflammatory Response To Antigenic Stimulus Outflow Tract Morphogenesis Endocardium Development Endocardium Morphogenesis Atrioventricular Node Development Coronary Vein Morphogenesis Aortic Valve Morphogenesis Atrioventricular Valve Morphogenesis Coronary Sinus Valve Morphogenesis Pulmonary Valve Morphogenesis Mitral Valve Formation Epithelial To Mesenchymal Transition Involved In Endocardial Cushion Formation Endocardial Cushion Morphogenesis Cardiac Chamber Formation Cardiac Ventricle Morphogenesis Cardiac Atrium Morphogenesis Cardiac Right Atrium Morphogenesis Cardiac Left Ventricle Morphogenesis Cardiac Right Ventricle Formation Ventricular Trabecula Myocardium Morphogenesis Growth Involved In Heart Morphogenesis Negative Regulation Of Cell Proliferation Involved In Heart Valve Morphogenesis Regulation Of Transcription From RNA Polymerase II Promoter Involved In Myocardial Precursor Cell Differentiation Notch Signaling Pathway Involved In Regulation Of Secondary Heart Field Cardioblast Proliferation Cell Migration Involved In Endocardial Cushion Formation Negative Regulation Of Extracellular Matrix Constituent Secretion Pericardium Morphogenesis Regulation Of Transcription, DNA-templated Protein Import Into Nucleus Immune Response Humoral Immune Response Notch Signaling Pathway Positive Regulation Of Transcription Of Notch Receptor Target Spermatogenesis Determination Of Left/right Symmetry Compartment Pattern Specification Axon Guidance Foregut Morphogenesis Endoderm Development Heart Development Positive Regulation Of Cell Population Proliferation Negative Regulation Of Cell Population Proliferation Auditory Receptor Cell Fate Commitment Gene Expression Negative Regulation Of Cardiac Muscle Hypertrophy Positive Regulation Of Gene Expression Negative Regulation Of Gene Expression Negative Regulation Of Cell-substrate Adhesion Negative Regulation Of Myotube Differentiation Mesenchymal Cell Development Regulation Of Somitogenesis Cell Differentiation In Spinal Cord Neural Tube Development Protein Catabolic Process Keratinocyte Differentiation Negative Regulation Of Ossification Lung Development Positive Regulation Of Cell Migration Positive Regulation Of BMP Signaling Pathway Negative Regulation Of BMP Signaling Pathway Forebrain Development Hair Follicle Morphogenesis Animal Organ Regeneration Response To Corticosteroid Response To Muramyl Dipeptide Response To Lipopolysaccharide Embryonic Hindlimb Morphogenesis Tube Formation Skeletal Muscle Cell Differentiation Cellular Response To Vascular Endothelial Growth Factor Stimulus Tissue Regeneration Negative Regulation Of Catalytic Activity Positive Regulation Of Viral Genome Replication Positive Regulation Of Endothelial Cell Differentiation Negative Regulation Of Inner Ear Auditory Receptor Cell Differentiation Positive Regulation Of Keratinocyte Differentiation Negative Regulation Of Myoblast Differentiation Negative Regulation Of Osteoblast Differentiation Positive Regulation Of Notch Signaling Pathway Negative Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Negative Regulation Of Calcium Ion-dependent Exocytosis Negative Regulation Of Growth Rate Positive Regulation Of Receptor Signaling Pathway Via JAK-STAT Negative Regulation Of Photoreceptor Cell Differentiation Positive Regulation Of Ras Protein Signal Transduction Somatic Stem Cell Division Astrocyte Differentiation Oligodendrocyte Differentiation Positive Regulation Of Astrocyte Differentiation Negative Regulation Of Oligodendrocyte Differentiation Branching Morphogenesis Of An Epithelial Tube Homeostasis Of Number Of Cells Within A Tissue Positive Regulation Of Epithelial Cell Proliferation Negative Regulation Of Neurogenesis Regulation Of Cell Cycle Cardiac Muscle Tissue Morphogenesis Cardiac Muscle Cell Proliferation Positive Regulation Of Cardiac Muscle Cell Proliferation Negative Regulation Of Glial Cell Proliferation Cilium Assembly Cardiac Epithelial To Mesenchymal Transition Negative Regulation Of Cell Adhesion Molecule Production Cardiac Septum Morphogenesis Ventricular Septum Morphogenesis Secretory Columnal Luminar Epithelial Cell Differentiation Involved In Prostate Glandular Acinus Development Prostate Gland Epithelium Morphogenesis Regulation Of Epithelial Cell Proliferation Involved In Prostate Gland Development Arterial Endothelial Cell Differentiation Venous Endothelial Cell Differentiation Cardiac Vascular Smooth Muscle Cell Development Endocardial Cell Differentiation Vasculogenesis Involved In Coronary Vascular Morphogenesis Coronary Artery Morphogenesis Notch Signaling Involved In Heart Development Heart Trabecula Morphogenesis Positive Regulation Of Transcription From RNA Polymerase II Promoter In Response To Hypoxia Positive Regulation Of Cardiac Epithelial To Mesenchymal Transition Negative Regulation Of Biomineral Tissue Development Positive Regulation Of ERK1 And ERK2 Cascade Left/right Axis Specification Cellular Response To Follicle-stimulating Hormone Stimulus Distal Tubule Development Collecting Duct Development Glomerular Mesangial Cell Development T-helper 17 Type Immune Response Negative Regulation Of Cell Migration Involved In Sprouting Angiogenesis Negative Regulation Of Canonical Wnt Signaling Pathway Neuronal Stem Cell Population Maintenance Interleukin-17-mediated Signaling Pathway Negative Regulation Of Cold-induced Thermogenesis Regulation Of Extracellular Matrix Assembly Apoptotic Process Involved In Embryonic Digit Morphogenesis Positive Regulation Of Apoptotic Process Involved In Morphogenesis Positive Regulation Of Aorta Morphogenesis Negative Regulation Of Cell-cell Adhesion Mediated By Cadherin Negative Regulation Of Stem Cell Differentiation Negative Regulation Of Anoikis Negative Regulation Of Pro-B Cell Differentiation Negative Regulation Of Endothelial Cell Chemotaxis	Protein Deneddylation Response To Oxidative Stress Organelle Organization Nuclear Envelope Organization Cell Adhesion Neuron Projection Development Protein Localization To Nucleus Wound Healing, Spreading Of Cells Intermediate Filament Cytoskeleton Organization Synaptic Vesicle Transport Synaptic Vesicle Membrane Organization Chaperone Cofactor-dependent Protein Refolding Regulation Of Dopamine Uptake Involved In Synaptic Transmission Chaperone-mediated Protein Folding ER-associated Misfolded Protein Catabolic Process Nuclear Membrane Organization Positive Regulation Of Synaptic Vesicle Endocytosis Regulation Of Protein Localization To Cell Surface
Pathways		Pre-NOTCH Processing in the Endoplasmic Reticulum Pre-NOTCH Transcription and Translation Pre-NOTCH Transcription and Translation Pre-NOTCH Processing in Golgi Pre-NOTCH Processing in Golgi Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells NOTCH1 Intracellular Domain Regulates Transcription NOTCH1 Intracellular Domain Regulates Transcription Activated NOTCH1 Transmits Signal to the Nucleus Activated NOTCH1 Transmits Signal to the Nucleus Constitutive Signaling by NOTCH1 PEST Domain Mutants Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant Constitutive Signaling by NOTCH1 HD Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants Notch-HLH transcription pathway Defective LFNG causes SCDO3 RUNX3 regulates NOTCH signaling RUNX3 regulates NOTCH signaling NOTCH3 Intracellular Domain Regulates Transcription NOTCH3 Intracellular Domain Regulates Transcription NOTCH4 Intracellular Domain Regulates Transcription	Cargo recognition for clathrin-mediated endocytosis
Drugs
Diseases
GWAS		Chronic inflammatory diseases (ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) ( 26974007) Coronary artery calcified atherosclerotic plaque (130 HU threshold) in type 2 diabetes ( 29221444) Crohn's disease ( 28067908) Eosinophil counts ( 32888494) Inflammatory bowel disease ( 28067908) Length of menstrual cycle ( 26732621) Mean corpuscular hemoglobin ( 32888494) Red cell distribution width ( 28957414) Serum alkaline phosphatase levels ( 33547301) Triglyceride levels ( 32203549) Ulcerative colitis ( 28067908)	Prostate cancer ( 29892016) Prostate cancer (advanced) ( 29892016) Prostate cancer (early onset) ( 29892016)
Interacting Genes		87 interacting genes: ADAM17 AKT1 APBA1 ARL6IP5 B3GALT4 BLOC1S1 CACNA1A CAMK4 CASR CBL CCN3 CEP57L1 CNTN1 COL4A6 CTNNB1 DAZAP2 DLL1 DLL4 DTX1 DTX2 EGFL7 EP300 EXT1 FAM185A FBP1 FBXW7 FURIN GFI1B GOLGA2 GOPC GSK3B HMGN5 HOXA1 ILK ITCH JAG1 JAG2 KAT2A KAT2B KIAA1191 LCK LEF1 LFNG LINC00260 LINC02907 LNX2 MAGEA1 MAGED1 MAML1 MAML2 MAML3 MAP3K1 MBD1 MDM2 MEF2C MFNG NFKB1 NUMB NUMBL PIK3CG POFUT1 POU2AF1 PRKCD PSEN1 PSEN2 RBP3 RBPJ REL RELA RHOA RUNX3 SHANK3 SMAD3 SNAI1 SNW1 STC1 TLE3 TOR1A USP10 USP12 USP2 USP7 WDR12 WWP1 XIAP XRCC6 YY1	10 interacting genes: ENPP2 KRTAP10-7 LMNA LRRC7 MDFI NOTCH1 PAEP SNCA TOR1AIP2 TOR1B
Entrez ID		4851	1861
HPRD ID		01827	06897
Ensembl ID		ENSG00000148400	ENSG00000136827
Uniprot IDs		P46531	B3KPA1 O14656
PDB IDs		1PB5 1TOZ 1YYH 2F8X 2F8Y 2HE0 2VJ3 3ETO 3I08 3L95 3NBN 3V79 4CUD 4CUE 4CUF 4D0E 4D0F 5FM9 5FMA 5KZO 5L0R 5UB5 6IDF 6PY8	5J1S 5J1T 6OIF
Enriched GO Terms of Interacting Partners?
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