NF1

Name	neurofibromin 1
Structure
Novel Interactors	1 novel interactors: CRYBA1
Interactors	17 interactors: AKT1 APP CLK1 DNAJC7 EFS EPHA2 GRIN1 GRIN2D HRAS HTR6 LIMK2 MAP2K3 RAF1 SDC2 SOX4 TBPL1 VCP
GO Annotations	Cellular Component	Nucleus Nucleoplasm Nucleolus Cytoplasm Cytosol Plasma Membrane Membrane Axon Dendrite Presynapse Glutamatergic Synapse
	Molecular Function	GTPase Activator Activity Protein Binding Lipid Binding Phosphatidylethanolamine Binding Phosphatidylcholine Binding
	Biological Process	MAPK Cascade Angiogenesis Osteoblast Differentiation Metanephros Development Response To Hypoxia Liver Development Endothelial Cell Proliferation 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 Leukocyte Migration Protein Import Into Nucleus Apoptotic Process Cell Communication Ras Protein Signal Transduction Neurotransmitter Secretion Neuroblast Proliferation Negative Regulation Of Neuroblast Proliferation Brain Development Peripheral Nervous System Development Heart Development Skeletal Muscle Tissue Development Cell Population Proliferation Negative Regulation Of Cell Population Proliferation Visual Learning Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors Regulation Of Gene Expression Negative Regulation Of Schwann Cell Proliferation Glial Cell Proliferation Schwann Cell Proliferation Schwann Cell Development Cell Migration Negative Regulation Of Angiogenesis Rac Protein Signal Transduction 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 Osteoclast Differentiation Adrenal Gland Development Negative Regulation Of Cell Migration Regulation Of Synaptic Transmission, GABAergic Mast Cell Apoptotic Process Positive Regulation Of Mast Cell Apoptotic Process Myeloid Cell Apoptotic Process Positive Regulation Of Myeloid Cell Apoptotic Process Cellular Response To Heat Negative Regulation Of Rac Protein Signal Transduction Schwann Cell Migration Wound Healing Regulation Of Cell Population Proliferation Negative Regulation Of Protein Import Into Nucleus Positive Regulation Of Apoptotic Process Regulation Of MAPK Cascade Negative Regulation Of MAPK Cascade Pigmentation Phosphatidylinositol 3-kinase/protein Kinase B Signal Transduction 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 Regulation Of Angiogenesis Negative Regulation Of Ras Protein Signal Transduction Negative Regulation Of Neurotransmitter Secretion Fibroblast Proliferation Negative Regulation Of Fibroblast Proliferation Regulation Of Long-term Neuronal Synaptic Plasticity Sympathetic Nervous System Development Camera-type Eye Morphogenesis Astrocyte Differentiation Oligodendrocyte Differentiation Negative Regulation Of Astrocyte Differentiation Negative Regulation Of Oligodendrocyte Differentiation Smooth Muscle Tissue Development Hair Follicle Maturation Artery Morphogenesis Forebrain Morphogenesis Regulation Of Developmental Process Cognition Neuron Apoptotic Process Negative Regulation Of Glial Cell Proliferation Long-term Synaptic Potentiation Gamma-aminobutyric Acid Secretion, Neurotransmission Glutamate Secretion, Neurotransmission Regulation Of ERK1 And ERK2 Cascade Mast Cell Proliferation Negative Regulation Of Mast Cell Proliferation Leukocyte Apoptotic Process Stem Cell Proliferation Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand Myeloid Leukocyte Migration Observational Learning Regulation Of Postsynapse Organization Negative Regulation Of Schwann Cell Migration Regulation Of Long-term Synaptic Potentiation Regulation Of Intracellular Signal Transduction Positive Regulation Of Vascular Associated Smooth Muscle Cell Proliferation Vascular Associated Smooth Muscle Cell Migration Negative Regulation Of Vascular Associated Smooth Muscle Cell Migration Vascular Associated Smooth Muscle Cell Proliferation Positive Regulation Of Leukocyte Apoptotic Process Negative Regulation Of Stem Cell Proliferation 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
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 ) Apolipoprotein B levels ( 32203549 ) Appendicular lean mass ( 33097823 ) Aspartate aminotransferase levels ( 33547301 ) Bitter alcoholic beverage consumption ( 31046077 ) Body size at age 10 ( 32376654 ) Brain morphology (MOSTest) ( 32665545 ) Endometrial cancer ( 30093612 ) Endometrial cancer (endometrioid histology) ( 30093612 ) Familial squamous cell lung carcinoma ( 29924316 ) Feeling nervous ( 29500382 ) General risk tolerance (MTAG) ( 30643258 ) Haemorrhoidal disease ( 33888516 ) Hip circumference ( 25673412 ) Hip circumference adjusted for BMI ( 28552196 34021172 ) LDL cholesterol levels ( 32203549 ) Low density lipoprotein cholesterol levels ( 32154731 ) Monocyte count ( 32888494 ) Monocyte percentage of white cells ( 32888494 ) Oily fish consumption ( 32066663 ) Platelet count ( 32888494 ) Plateletcrit ( 32888494 ) Pork consumption ( 32066663 ) Total cholesterol levels ( 29083408 ) Type 2 diabetes ( 32499647 30297969 )
Entrez ID	4763
HPRD ID	01203
Ensembl ID	ENSG00000196712
Uniprot IDs	P21359
PDB IDs	1NF1 2D4Q 2E2X 3P7Z 3PEG 3PG7 6OB2 6OB3 6V65 6V6F 7MOC 7MP5 7MP6 7PGP 7PGQ 7PGR 7PGS 7PGT 7PGU 7R03 7R04 8E20 8EDL 8EDM 8EDN 8EDO
GO Terms Enriched among Interactors ?	Intracellular Signaling Cassette Positive Regulation Of Signal Transduction Regulation Of Neuronal Synaptic Plasticity Glial Cell Development Intracellular Signal Transduction Positive Regulation Of Cell Communication Positive Regulation Of Signaling Ionotropic Glutamate Receptor Signaling Pathway Positive Regulation Of Excitatory Postsynaptic Potential Regulation Of Signal Transduction Protein Kinase Activity Regulation Of Intracellular Signal Transduction Ligand-gated Ion Channel Signaling Pathway Positive Regulation Of Phosphate Metabolic Process Cellular Response To Oxygen-containing Compound Modulation Of Excitatory Postsynaptic Potential Regulation Of Protein Localization Glutamate Receptor Signaling Pathway NMDA Glutamate Receptor Activity Glutamate Binding Protein Serine Kinase Activity Regulation Of Cell Communication Regulation Of Signaling Kinase Activity Regulation Of Plasma Membrane Bounded Cell Projection Organization Excitatory Postsynaptic Potential NMDA Selective Glutamate Receptor Complex Glutamate-gated Calcium Ion Channel Activity Regulation Of MAPK Cascade Regulation Of Cell Projection Organization Protein Serine/threonine Kinase Activity Excitatory Chemical Synaptic Transmission Regulation Of Synaptic Plasticity Regulation Of Membrane Potential Positive Regulation Of Protein Localization Response To Radiation Insulin Receptor Signaling Pathway Cell Surface Receptor Protein Tyrosine Kinase Signaling Pathway Regulation Of Cell Projection Assembly Positive Regulation Of Intracellular Signal Transduction Regulation Of Postsynaptic Membrane Potential Nucleotide Binding Schwann Cell Development Cell Development Regulation Of ERK1 And ERK2 Cascade Positive Regulation Of Cell Migration Developmental Process Regulation Of Phosphorus Metabolic Process Regulation Of Blood Vessel Endothelial Cell Migration Positive Regulation Of Peptidyl-serine Phosphorylation