Neurofibromin

NF1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2D4Q, 2E2X, 3P7Z, 3PEG, 3PG7
Identifiers
Aliases	NF1, NFNS, VRNF, WSS, neurofibromin 1
External IDs	OMIM: 613113; MGI: 97306; HomoloGene: 141252; GeneCards: NF1; OMA:NF1 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	31,382,116 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	79,472,438 bp
RNA expression pattern
	Top expressed in
	epithelium of colon; ; Achilles tendon; ; secondary oocyte; ; ventricular zone; ; buccal mucosa cell; ; sural nerve; ; ganglionic eminence; ; testicle; ; corpus callosum; ; corpus epididymis;
	Top expressed in
	spermatocyte; ; spermatid; ; tail of embryo; ; genital tubercle; ; lumbar subsegment of spinal cord; ; neural layer of retina; ; superior frontal gyrus; ; dentate gyrus of hippocampal formation granule cell; ; ventricular zone; ; primary visual cortex;
	More reference expression data
	n/a
Gene ontology
Molecular function	phosphatidylcholine binding; protein binding; phosphatidylethanolamine binding; lipid binding; GTPase activator activity;
Cellular component	cytosol; membrane; intrinsic component of the cytoplasmic side of the plasma membrane; nucleolus; axon; dendrite; presynapse; cytoplasm; nucleus;
Biological process	cellular response to heat; regulation of angiogenesis; negative regulation of cell-matrix adhesion; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand; observational learning; negative regulation of cell population proliferation; negative regulation of astrocyte differentiation; regulation of long-term neuronal synaptic plasticity; regulation of MAPK cascade; regulation of GTPase activity; glutamate secretion, neurotransmission; amygdala development; negative regulation of Rac protein signal transduction; neural tube development; cognition; negative regulation of cell migration; regulation of gene expression; positive regulation of extrinsic apoptotic signaling pathway via death domain receptors; negative regulation of neurotransmitter secretion; positive regulation of endothelial cell proliferation; gamma-aminobutyric acid secretion, neurotransmission; negative regulation of osteoclast differentiation; negative regulation of endothelial cell proliferation; regulation of blood vessel endothelial cell migration; regulation of cell population proliferation; regulation of long-term synaptic potentiation; negative regulation of angiogenesis; skeletal muscle tissue development; regulation of synaptic transmission, GABAergic; extrinsic apoptotic signaling pathway via death domain receptors; signal transduction; positive regulation of GTPase activity; Schwann cell development; adrenal gland development; spinal cord development; MAPK cascade; phosphatidylinositol 3-kinase signaling; heart development; positive regulation of neuron apoptotic process; peripheral nervous system development; wound healing; sympathetic nervous system development; osteoblast differentiation; positive regulation of apoptotic process; negative regulation of fibroblast proliferation; forebrain astrocyte development; metanephros development; negative regulation of MAP kinase activity; pigmentation; liver development; visual learning; regulation of glial cell differentiation; artery morphogenesis; positive regulation of adenylate cyclase activity; negative regulation of Ras protein signal transduction; regulation of bone resorption; extracellular matrix organization; actin cytoskeleton organization; cerebral cortex development; negative regulation of protein kinase activity; Ras protein signal transduction; forebrain morphogenesis; negative regulation of oligodendrocyte differentiation; regulation of cell-matrix adhesion; smooth muscle tissue development; brain development; collagen fibril organization; myelination in peripheral nervous system; camera-type eye morphogenesis; cell communication; response to hypoxia; negative regulation of neuroblast proliferation; negative regulation of MAPK cascade; hair follicle maturation; negative regulation of protein import into nucleus;
	Sources:Amigo / QuickGO
Orthologs
	4763
	18015
	ENSG00000196712
	ENSMUSG00000020716
	P21359
	Q04690
	NM_000267; NM_001042492; NM_001128147
	NM_010897
	NP_000258; NP_001035957; NP_001121619
	NP_035027
	Wikidata
View/Edit Human	View/Edit Mouse

Neurofibromin (NF-1) is a protein that is encoded in humans, in the NF1 gene. NF1 is located on chromosome 17. Neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras-bound GTP. NF1 has a high mutation rate and mutations can alter cellular growth control, and neural development, resulting in various presentations (depending on the specific allele expressed) such as Watson syndrome and neurofibromatosis type 1 (NF1, also known as von Recklinghausen syndrome). Symptoms of NF1 include disfiguring cutaneous neurofibromas (CNF), café au lait pigment spots, plexiform neurofibromas (PN), skeletal defects, optic nerve gliomas, life-threatening malignant peripheral nerve sheath tumors (MPNST), pheochromocytoma, attention deficits, learning deficits and other cognitive disabilities.