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NF1 a Ras-GAP, highly expressed in developing neural cells. Possesses tumor suppressor activity, presumably by virtue of its GTPase activating domain. Neurofibromin is phosphorylated in response to EGF in CNS cells and cell lines. Defects in NF1 are the cause of type 1 neurofibromatosis (NF1), Watson syndrome, and familial spinal neurofibromatosis. NF1 is one of the most frequent autosomal dominant diseases. Four alternatively spliced isoforms have been described. Note: This description may include information from UniProtKB.
Protein type: GAP; GAP, Ras; Motility/polarity/chemotaxis; Nucleolus; Tumor suppressor
Chromosomal Location of Human Ortholog: 17q11.2
Cellular Component: axon; cytoplasm; cytosol; dendrite; membrane; nucleolus; nucleus
Molecular Function: GTPase activator activity; phosphatidylcholine binding; phosphatidylethanolamine binding; protein binding
Biological Process: actin cytoskeleton organization; adrenal gland development; amygdala development; artery morphogenesis; brain development; camera-type eye morphogenesis; cell communication; cerebral cortex development; cognition; collagen fibril organization; extracellular matrix organization; forebrain astrocyte development; forebrain morphogenesis; hair follicle maturation; heart development; induction of apoptosis via death domain receptors; liver development; MAPK cascade; metanephros development; myelination in the peripheral nervous system; negative regulation of angiogenesis; negative regulation of astrocyte differentiation; negative regulation of cell migration; negative regulation of cell-matrix adhesion; negative regulation of endothelial cell proliferation; negative regulation of fibroblast proliferation; negative regulation of MAP kinase activity; negative regulation of MAPKKK cascade; negative regulation of neuroblast proliferation; negative regulation of neurotransmitter secretion; negative regulation of oligodendrocyte differentiation; negative regulation of osteoclast differentiation; negative regulation of protein kinase activity; negative regulation of Rac protein signal transduction; negative regulation of Ras protein signal transduction; negative regulation of transcription factor import into nucleus; neural tube development; osteoblast differentiation; peripheral nervous system development; phosphoinositide 3-kinase cascade; pigmentation; positive regulation of adenylate cyclase activity; positive regulation of apoptosis; positive regulation of endothelial cell proliferation; positive regulation of GTPase activity; positive regulation of neuron apoptotic process; Ras protein signal transduction; regulation of angiogenesis; regulation of blood vessel endothelial cell migration; regulation of bone resorption; regulation of cell-matrix adhesion; regulation of gene expression; regulation of glial cell differentiation; regulation of GTPase activity; regulation of long-term neuronal synaptic plasticity; regulation of synaptic transmission, GABAergic; response to hypoxia; Schwann cell development; skeletal muscle tissue development; smooth muscle development; spinal cord development; sympathetic nervous system development; visual learning; wound healing
Disease: Juvenile Myelomonocytic Leukemia; Neurofibromatosis, Familial Spinal; Neurofibromatosis, Type I; Neurofibromatosis-noonan Syndrome; Watson Syndrome
Reference #:  P21359 (UniProtKB)
Alt. Names/Synonyms: DKFZp686J1293; FLJ21220; neurofibromatosis-related protein NF-1; neurofibromin; neurofibromin 1; neurofibromin truncated; NF1; NFNS; VRNF; WSS
Gene Symbols: NF1
Molecular weight: 319,372 Da
Basal Isoelectric point: 7.1  Predict pI for various phosphorylation states
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