Neurofibromine 1

NF1
Structures disponibles
PDB	Recherche d'orthologue : PDBe RCSB
Identifiants PDB
	2D4Q, 2E2X, 3P7Z, 3PEG, 3PG7
Identifiants
Alias	NF1
IDs externes	OMIM: 613113 MGI: 97306 HomoloGene: 141252 GeneCards: NF1
Position du gène (humain)
Chr.	Chromosome 17 humain
Fin	31,382,116 bp
Position du gène (souris)
Chr.	Chromosome 11 (souris)
Fin	79,472,438 bp
Expression génique
	Fortement exprimé dans
	epithelium of colon; ; tendon calcanéen; ; secondary oocyte; ; ventricular zone; ; buccal mucosa cell; ; nerf sural; ; éminence ganglionnaire; ; testicule; ; corps calleux; ; corpus epididymis;
	Fortement exprimé dans
	spermatocyte; ; spermatide; ; tail of embryo; ; tubercule génital; ; lumbar subsegment of spinal cord; ; neural layer of retina; ; gyrus frontal supérieur; ; dentate gyrus of hippocampal formation granule cell; ; ventricular zone; ; primary visual cortex;
	Plus de données d'expression de référence
	n/a
Gene Ontology
Fonction moléculaire	phosphatidylcholine binding; liaison protéique; phosphatidylethanolamine binding; liaison lipidique; GTPase activator activity;
Composant cellulaire	cytosol; membrane; intrinsic component of the cytoplasmic side of the plasma membrane; nucléole; axone; dendrite; présynapse; cytoplasme; noyau;
Processus biologique	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; régulation de l'expression des gènes; 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; transduction de signal; positive regulation of GTPase activity; Schwann cell development; adrenal gland development; spinal cord development; MAPK cascade; phosphatidylinositol 3-kinase signaling; développement du cœur; positive regulation of neuron apoptotic process; peripheral nervous system development; cicatrisation; 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; développement du cortex cérébral; 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; développement cérébral; collagen fibril organization; myelination in peripheral nervous system; camera-type eye morphogenesis; communication cellulaire; 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
Orthologues
	4763
	18015
	ENSG00000196712
	ENSMUSG00000020716
	P21359
	Q04690
	NM_000267; NM_001042492; NM_001128147
	NM_010897
	NP_000258; NP_001035957; NP_001121619
	NP_035027
	Wikidata
Voir/Editer Humain	Voir/Editer Souris