Neurofibromine 1

NF1
Structures disponibles PDB Recherche d'orthologue: PDBe RCSB Identifiants PDB 2D4Q, 2E2X, 3P7Z, 3PEG, 3PG7
Identifiants
Aliases	NF1
IDs externes	OMIM: 613113 MGI: 97306 HomoloGene: 141252 GeneCards: NF1
Position du gène (Homme) Chr. Chromosome 17 humain[1] Locus 17q11.2 Début 31,094,927 bp[1] Fin 31,382,116 bp[1]
Position du gène (Souris) Chr. Chromosome 11 (souris)[2] Locus 11 B5|11 46.74 cM Début 79,230,519 bp[2] Fin 79,472,438 bp[2]
Expression génétique Bgee Humain Souris (orthologue) 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 BioGPS 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 Espèces Homme Souris Entrez 4763 18015 Ensembl ENSG00000196712 ENSMUSG00000020716 UniProt P21359 Q04690 RefSeq (mRNA) NM_000267 NM_001042492 NM_001128147 NM_010897 RefSeq (protéine) NP_000258 NP_001035957 NP_001121619 NP_035027 Localisation (UCSC) Chr 17: 31.09 – 31.38 Mb Chr 11: 79.23 – 79.47 Mb Publication PubMed [3] [4]
Wikidata
Voir/Editer Humain Voir/Editer Souris

La neurofibromine 1 est une protéine dont le gène, NF1, est situé sur le chromosome 17 humain.

Rôles

Elle a un rôle de suppresseur de tumeurs^[5]. Elle agit en inhibant la voie des protéine RAS^[6].

En médecine

La mutation de son gène est associée à la neurofibromatose de type I et au syndrome de Watson.

Notes et références

• Portail de la médecine
• Portail de la biologie cellulaire et moléculaire