Neurofibromin 1

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	MGI: 97306 HomoloGene: 141252 GeneCards: NF1
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 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 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 • negative regulation of transcription factor import into nucleus • 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 Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4763	18015
Ensembl	ENSG00000196712	ENSMUSG00000020716
UniProt	P21359	Q04690
RefSeq (mRNA)	NM_000267 NM_001042492 NM_001128147	NM_010897
RefSeq (protein)	NP_000258 NP_001035957 NP_001121619	NP_035027.1 NP_035027
Location (UCSC)	Chr 17: 31.09 – 31.38 Mb	Chr 11: 79.34 – 79.58 Mb
PubMed search

2D4Q, 2E2X, 3P7Z, 3PEG, 3PG7

4763

18015

ENSG00000196712

ENSMUSG00000020716

P21359

Q04690

NM_000267
NM_001042492
NM_001128147

NM_010897

NP_000258
NP_001035957
NP_001121619

NP_035027.1
NP_035027

Neurofibromin 1 also known as neurofibromatosis-related protein NF-1 is a protein that in humans is encoded by the NF1 gene. Mutations in the NF1 gene are associated with neurofibromatosis type I (also known as von Recklinghausen disease) and Watson syndrome.

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Wikipedia