NF1


Summary: This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
neurofibromin 1MIM:613113Ensembl:ENSG00000196712HGNC:HGNC:7765PA3157217q11.2

GO terms in NF1


Term TypeEvidence TypeGO Term IDGO Des.
CCISSGO:0005634nucleus
CCIEAGO:0005730nucleolus
CCISSGO:0005737cytoplasm
CCTASGO:0005829cytosol
CCHDAGO:0016020membrane
CCIDAGO:0030424axon
CCIDAGO:0030425dendrite
CCIEAGO:0098793presynapse
BPISSGO:0000165MAPK cascade
BPTASGO:0000165MAPK cascade
BPISSGO:0001649osteoblast differentiation
BPISSGO:0001656metanephros development
BPISSGO:0001666response to hypoxia
BPISSGO:0001889liver development
BPIMPGO:0001937negative regulation of endothelial cell proliferation
BPIEAGO:0001938positive regulation of endothelial cell proliferation
BPISSGO:0001952regulation of cell-matrix adhesion
BPIEAGO:0001953negative regulation of cell-matrix adhesion
BPISSGO:0006469negative regulation of protein kinase activity
BPISSGO:0007154cell communication
BPISSGO:0007265Ras protein signal transduction
BPISSGO:0007406negative regulation of neuroblast proliferation
BPISSGO:0007420brain development
BPISSGO:0007422peripheral nervous system development
BPISSGO:0007507heart development
BPIEAGO:0007519skeletal muscle tissue development
BPISSGO:0008542visual learning
BPIEAGO:0008625extrinsic apoptotic signaling pathway via death domain receptors
BPIEAGO:0010468regulation of gene expression
BPISSGO:0014044Schwann cell development
BPISSGO:0014065phosphatidylinositol 3-kinase signaling
BPIEAGO:0016525negative regulation of angiogenesis
BPISSGO:0021510spinal cord development
BPIEAGO:0021764amygdala development
BPISSGO:0021897forebrain astrocyte development
BPIEAGO:0021915neural tube development
BPISSGO:0021987cerebral cortex development
BPISSGO:0022011myelination in peripheral nervous system
BPISSGO:0030036actin cytoskeleton organization
BPISSGO:0030198extracellular matrix organization
BPISSGO:0030199collagen fibril organization
BPISSGO:0030325adrenal gland development
BPIMPGO:0030336negative regulation of cell migration
BPIEAGO:0032228regulation of synaptic transmission, GABAergic
BPIEAGO:0034605cellular response to heat
BPIEAGO:0035021negative regulation of Rac protein signal transduction
BPISSGO:0042060wound healing
BPIEAGO:0042308negative regulation of protein import into nucleus
BPISSGO:0043065positive regulation of apoptotic process
BPIMPGO:0043087regulation of GTPase activity
BPISSGO:0043407negative regulation of MAP kinase activity
BPIMPGO:0043409negative regulation of MAPK cascade
BPISSGO:0043409negative regulation of MAPK cascade
BPISSGO:0043473pigmentation
BPISSGO:0043525positive regulation of neuron apoptotic process
BPIMPGO:0043535regulation of blood vessel endothelial cell migration
BPIDAGO:0043547positive regulation of GTPase activity
BPIMPGO:0043547positive regulation of GTPase activity
BPISSGO:0043547positive regulation of GTPase activity
BPISSGO:0045124regulation of bone resorption
BPIEAGO:0045671negative regulation of osteoclast differentiation
BPISSGO:0045685regulation of glial cell differentiation
BPISSGO:0045762positive regulation of adenylate cyclase activity
BPIMPGO:0045765regulation of angiogenesis
BPIEAGO:0046929negative regulation of neurotransmitter secretion
BPISSGO:0048147negative regulation of fibroblast proliferation
BPIEAGO:0048169regulation of long-term neuronal synaptic plasticity
BPISSGO:0048485sympathetic nervous system development
BPISSGO:0048593camera-type eye morphogenesis
BPIEAGO:0048712negative regulation of astrocyte differentiation
BPISSGO:0048715negative regulation of oligodendrocyte differentiation
BPISSGO:0048745smooth muscle tissue development
BPIEAGO:0048820hair follicle maturation
BPISSGO:0048844artery morphogenesis
BPISSGO:0048853forebrain morphogenesis
BPIMPGO:0050890cognition
BPIEAGO:0061534gamma-aminobutyric acid secretion, neurotransmission
BPIEAGO:0061535glutamate secretion, neurotransmission
BPIEAGO:0098597observational learning
BPIEAGO:1900271regulation of long-term synaptic potentiation
BPIEAGO:1902043positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
BPIEAGO:2001241positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
MFIDAGO:0005096GTPase activator activity
MFIPIGO:0005515protein binding
MFIDAGO:0008429phosphatidylethanolamine binding
MFIDAGO:0031210phosphatidylcholine binding

Gene expression in normal tissue: NF1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in NF1


DatabasePathway IDPathway Des.
biocartahswisnfpathwaychromatin remodeling by hswi/snf atp-dependent complexes
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-1643685Disease
reactomeR-HSA-5658442Regulation of RAS by GAPs
reactomeR-HSA-5663202Diseases of signal transduction
reactomeR-HSA-5673001RAF/MAP kinase cascade
reactomeR-HSA-5683057MAPK family signaling cascades
reactomeR-HSA-5684996MAPK1/MAPK3 signaling
reactomeR-HSA-6802949Signaling by RAS mutants
reactomeR-HSA-6802953RAS signaling downstream of NF1 loss-of-function variants
reactomeR-HSA-6802957Oncogenic MAPK signaling
wikipathwaysWP2253Pilocytic astrocytoma
wikipathwaysWP2261Signaling Pathways in Glioblastoma
wikipathwaysWP2586Aryl Hydrocarbon Receptor
wikipathwaysWP3584MECP2 and Associated Rett Syndrome
wikipathwaysWP382MAPK Signaling Pathway
wikipathwaysWP4223Ras Signaling
kegghsa04010MAPK signaling pathway - Homo sapiens (human)
kegghsa04014Ras signaling pathway - Homo sapiens (human)
pidatf2_pathwayATF-2 transcription factor network
pidhnf3bpathwayFOXA2 and FOXA3 transcription factor networks
pidras_pathwayRegulation of Ras family activation
pidsyndecan_2_pathwaySyndecan-2-mediated signaling events

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD888Compound 444
iGMDRD133Lapatinib1
iGMDRD356PNU-746543
iGMDRD23Gossypol3
iGMDRD568SCHEMBL150055121
iGMDRD260FQI-22
iGMDRD920HSP90 inhibitor4
iGMDRD226ML0064
iGMDRD468AZ6281
iGMDRD187BRD98762
iGMDRD639YK 4-2792
iGMDRD748PHA-6657521
iGMDRD470Trametinib14
iGMDRD466Chaetocin3
iGMDRD679Bistramide A1
iGMDRD778SCHEMBL135867081
iGMDRD76Simvastatin3
iGMDRD409Saracatinib1
iGMDRD433Lexibulin2
iGMDRD397Pazopanib2
iGMDRD670ML 2102
iGMDRD662JQ-11
iGMDRD840BRAF inhibitors in BRAF mutant tumor2
iGMDRD367Ro 28-16751
iGMDRD871BRD63687
iGMDRD322FK 8661
iGMDRD552AZD-17751
iGMDRD949mTOR inhibitor37
iGMDRD121GMX17782
iGMDRD137Indisulam3
iGMDRD158NSC1415402
iGMDRD202Curcumin3
iGMDRD77Itraconazole5
iGMDRD221Tamoxifen2
iGMDRD352PD-03259012
iGMDRD237ABT-7511
iGMDRD406Binimetinib2
iGMDRD1002rTRAIL1
iGMDRD154NSC237662
iGMDRD123Isoevodiamine1
iGMDRD522ML-0301
iGMDRD100Zebularine1
iGMDRD887Compound 23 citrate4
iGMDRD444Tivantinib3
iGMDRD134Sorafenib3
iGMDRD138PX 124
iGMDRD30917AAG1
iGMDRD446LY 21832401
iGMDRD253Vincaleukoblastine4
iGMDRD359OSW-12
iGMDRD375GW-4058335
iGMDRD776QL-XI-921
iGMDRD297Austocystin D5
iGMDRD579PF7501
iGMDRD462OSI-906 (Linsitinib)2
iGMDRD269Purmorphamine1
iGMDRD837Bevacizumab8
iGMDRD695FR-1802041
iGMDRD886Compound 1541A1
iGMDRD310Everolimus22
iGMDRD481Dactolisib3
iGMDRD333MEK Inhibitor14
iGMDRD267Oligomycin A1
iGMDRD434BMS-5369243
iGMDRD536PLX-47201
iGMDRD132(-)-gallocatechin-3-O-gallate1
iGMDRD211(1S,3R)-RSL33
iGMDRD177Teniposide4
iGMDRD410Ko-1431
iGMDRD512nutlin 31
iGMDRD84Lovastatin acid3
iGMDRD116CD4373
iGMDRD125BIRB-7961
iGMDRD424Tamatinib2
iGMDRD506Fedratinib2
iGMDRD780PP-302
iGMDRD399Selumetinib8
iGMDRD41Imatinib2
iGMDRD874BRD89582
iGMDRD460VTX-11e1
iGMDRD190Nilotinib7
iGMDRD369TGX-1151
iGMDRD64Parbendazole4
iGMDRD513BML-2592
iGMDRD593CX-54611
iGMDRD52Rotenone4
iGMDRD284Palbociclib1
iGMDRD316N9-Isopropyl-olomoucine1
iGMDRD152179324-69-71
iGMDRD107Valdecoxib2
iGMDRD394BX-7954
iGMDRD420Leucascandrolide A6
iGMDRD126Tipifarnib6
iGMDRD151CHM-12
iGMDRD974PD1 blockade1
iGMDRD781Sirolimus9
iGMDRD779PRL-3 Inhibitor I4
iGMDRD427ABT7372
iGMDRD329Merck603
iGMDRD968Pan-RAF inhibitor2
iGMDRD366PI-1033
iGMDRD868BRD4 inhibitor2
iGMDRD705Nakiterpiosin2
iGMDRD289Parthenolide3
iGMDRD383Cediranib2
iGMDRD165Tretinoin2
iGMDRD341Triacsin c3
iGMDRD945ML2142
iGMDRD523Cyanoquinoline, 114
iGMDRD150RITA3
iGMDRD532Olaparib3
iGMDRD312Pelitinib1
iGMDRD596Vemurafenib7
iGMDRD131Erlotinib8
iGMDRD60Quinoclamine7
iGMDRD344AZD75451
iGMDRD255SB2250022
iGMDRD669PDK1 inhibitor1
iGMDRD916Genentech Cpd 101
iGMDRD491TAE-6841
iGMDRD885Compound 1101
iGMDRD388YM2016361
iGMDRD441TW 371
iGMDRD318PAC-13
iGMDRD870BRD636106
iGMDRD973PD1 Ab inhibitor2
iGMDRD578PLX33974
iGMDRD193Fqi13
iGMDRD201SKI II2
iGMDRD828AURK inhibitor2
iGMDRD401Afatinib1
iGMDRD387CHIR-990212
iGMDRD112Methotrexate1
iGMDRD136Nutlin-31
iGMDRD239Dasatinib2
iGMDRD414MST-3123
iGMDRD872BRD71373
iGMDRD938KIT inhibitor2
iGMDRD646PHA-7938871
iGMDRD82Quiflapon4
iGMDRD505Pevonedistat4
iGMDRD300Tozasertib1
iGMDRD68Paclitaxel1
iGMDRD351GW843682X3
iGMDRD347Y-399831
iGMDRD382CEP-7011
iGMDRD701NVP-AUY9222
iGMDRD456Crizotinib1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in NF1

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