NF1

Description		neurofibromin 1
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GO Annotations	Cellular Component	Nucleus Nucleolus Cytoplasm Cytosol Membrane Axon Dendrite Presynapse
	Molecular Function	GTPase Activator Activity Protein Binding Phosphatidylethanolamine Binding Phosphatidylcholine Binding
	Biological Process	MAPK Cascade Osteoblast Differentiation Metanephros Development Response To Hypoxia Liver Development Negative Regulation Of Endothelial Cell Proliferation Positive Regulation Of Endothelial Cell Proliferation Regulation Of Cell-matrix Adhesion Negative Regulation Of Cell-matrix Adhesion Negative Regulation Of Protein Kinase Activity Cell Communication Ras Protein Signal Transduction Negative Regulation Of Neuroblast Proliferation Brain Development Peripheral Nervous System Development Heart Development Skeletal Muscle Tissue Development Visual Learning Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors Regulation Of Gene Expression Schwann Cell Development Phosphatidylinositol 3-kinase Signaling Negative Regulation Of Angiogenesis Spinal Cord Development Amygdala Development Forebrain Astrocyte Development Neural Tube Development Cerebral Cortex Development Myelination In Peripheral Nervous System Actin Cytoskeleton Organization Extracellular Matrix Organization Collagen Fibril Organization Adrenal Gland Development Negative Regulation Of Cell Migration Regulation Of Synaptic Transmission, GABAergic Cellular Response To Heat Negative Regulation Of Rac Protein Signal Transduction Wound Healing Negative Regulation Of Protein Import Into Nucleus Positive Regulation Of Apoptotic Process Regulation Of GTPase Activity Negative Regulation Of MAP Kinase Activity Negative Regulation Of MAPK Cascade Pigmentation Positive Regulation Of Neuron Apoptotic Process Regulation Of Blood Vessel Endothelial Cell Migration Positive Regulation Of GTPase Activity Regulation Of Bone Resorption Negative Regulation Of Osteoclast Differentiation Regulation Of Glial Cell Differentiation Positive Regulation Of Adenylate Cyclase Activity Regulation Of Angiogenesis Negative Regulation Of Neurotransmitter Secretion Negative Regulation Of Fibroblast Proliferation Regulation Of Long-term Neuronal Synaptic Plasticity Sympathetic Nervous System Development Camera-type Eye Morphogenesis Negative Regulation Of Astrocyte Differentiation Negative Regulation Of Oligodendrocyte Differentiation Smooth Muscle Tissue Development Hair Follicle Maturation Artery Morphogenesis Forebrain Morphogenesis Cognition Gamma-aminobutyric Acid Secretion, Neurotransmission Glutamate Secretion, Neurotransmission Observational Learning Regulation Of Long-term Synaptic Potentiation Positive Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand
Pathways		Regulation of RAS by GAPs RAS signaling downstream of NF1 loss-of-function variants
Drugs
Diseases		Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)
GWAS		Adventurousness ( 30643258) Bitter alcoholic beverage consumption ( 31046077) Endometrial cancer ( 30093612) Endometrial cancer (endometrioid histology) ( 30093612) Familial squamous cell lung carcinoma ( 29924316) Feeling nervous ( 29500382) General risk tolerance (MTAG) ( 30643258) Hip circumference ( 25673412) Hip circumference adjusted for BMI ( 28552196) Total cholesterol levels ( 29083408) Type 2 diabetes ( 30297969)
Interacting Genes		16 interacting genes: AKT1 APP CLK1 DNAJC7 EPHA2 GRIN1 GRIN2D HRAS HTR6 LIMK2 MAP2K3 RAF1 SDC2 SOX4 TBPL1 VCP
Entrez ID		4763
HPRD ID		01203
Ensembl ID		ENSG00000196712
Uniprot IDs		P21359
PDB IDs		1NF1 2D4Q 2E2X 3P7Z 3PEG 3PG7 6OB2 6OB3
Enriched GO Terms of Interacting Partners?
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