NF1 Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. Detected in brain, peripheral nerve, lung, colon and muscle. 2 alternatively spliced human isoforms have been reported. 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; nucleolus; nucleus; presynapse
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; cellular response to heat; cerebral cortex development; cognition; collagen fibril organization; extracellular matrix organization; extrinsic apoptotic signaling pathway via death domain receptors; forebrain astrocyte development; forebrain morphogenesis; gamma-aminobutyric acid secretion, neurotransmission; glutamate secretion, neurotransmission; hair follicle maturation; heart development; liver development; MAPK cascade; metanephros development; myelination in 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 MAPK 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 import into nucleus; negative regulation of protein kinase activity; negative regulation of Rac protein signal transduction; neural tube development; observational learning; osteoblast differentiation; peripheral nervous system development; phosphatidylinositol 3-kinase signaling; pigmentation; positive regulation of adenylate cyclase activity; positive regulation of apoptotic process; positive regulation of endothelial cell proliferation; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand; 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 long-term synaptic potentiation; regulation of synaptic transmission, GABAergic; response to hypoxia; Schwann cell development; skeletal muscle tissue development; smooth muscle tissue 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 1; neurofibromatosis-related protein NF-1; Neurofibromin; neurofibromin 1; neurofibromin truncated; NF1; NFNS; truncated neurofibromin 1; VRNF; WSS
Gene Symbols: NF1
Molecular weight: 319,372 Da
Basal Isoelectric point: 7.1  Predict pI for various phosphorylation states
Select Structure to View Below

NF1

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  cBioPortal  |  CCLE  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho3D  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein