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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].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
neurofibromin 1	MIM:613113	Ensembl:ENSG00000196712	HGNC:HGNC:7765	PA31572	17q11.2

Gene Categories:

KINASE SERINE THREONINE KINASE CLINICALLY ACTIONABLE

GO terms in NF1

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

Gene expression in normal tissue: NF1

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in NF1

Database	Pathway ID	Pathway Des.
biocarta	hswisnfpathway	chromatin remodeling by hswi/snf atp-dependent complexes
reactome	R-HSA-162582	Signal Transduction
reactome	R-HSA-1643685	Disease
reactome	R-HSA-5658442	Regulation of RAS by GAPs
reactome	R-HSA-5663202	Diseases of signal transduction
reactome	R-HSA-5673001	RAF/MAP kinase cascade
reactome	R-HSA-5683057	MAPK family signaling cascades
reactome	R-HSA-5684996	MAPK1/MAPK3 signaling
reactome	R-HSA-6802949	Signaling by RAS mutants
reactome	R-HSA-6802953	RAS signaling downstream of NF1 loss-of-function variants
reactome	R-HSA-6802957	Oncogenic MAPK signaling
wikipathways	WP2253	Pilocytic astrocytoma
wikipathways	WP2261	Signaling Pathways in Glioblastoma
wikipathways	WP2586	Aryl Hydrocarbon Receptor
wikipathways	WP3584	MECP2 and Associated Rett Syndrome
wikipathways	WP382	MAPK Signaling Pathway
wikipathways	WP4223	Ras Signaling
kegg	hsa04010	MAPK signaling pathway - Homo sapiens (human)
kegg	hsa04014	Ras signaling pathway - Homo sapiens (human)
pid	atf2_pathway	ATF-2 transcription factor network
pid	hnf3bpathway	FOXA2 and FOXA3 transcription factor networks
pid	ras_pathway	Regulation of Ras family activation
pid	syndecan_2_pathway	Syndecan-2-mediated signaling events

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD888	Compound 44	4
iGMDRD133	Lapatinib	1
iGMDRD356	PNU-74654	3
iGMDRD23	Gossypol	3
iGMDRD568	SCHEMBL15005512	1
iGMDRD260	FQI-2	2
iGMDRD920	HSP90 inhibitor	4
iGMDRD226	ML006	4
iGMDRD468	AZ628	1
iGMDRD187	BRD9876	2
iGMDRD639	YK 4-279	2
iGMDRD748	PHA-665752	1
iGMDRD470	Trametinib	14
iGMDRD466	Chaetocin	3
iGMDRD679	Bistramide A	1
iGMDRD778	SCHEMBL13586708	1
iGMDRD76	Simvastatin	3
iGMDRD409	Saracatinib	1
iGMDRD433	Lexibulin	2
iGMDRD397	Pazopanib	2
iGMDRD670	ML 210	2
iGMDRD662	JQ-1	1
iGMDRD840	BRAF inhibitors in BRAF mutant tumor	2
iGMDRD367	Ro 28-1675	1
iGMDRD871	BRD6368	7
iGMDRD322	FK 866	1
iGMDRD552	AZD-1775	1
iGMDRD949	mTOR inhibitor	37
iGMDRD121	GMX1778	2
iGMDRD137	Indisulam	3
iGMDRD158	NSC141540	2
iGMDRD202	Curcumin	3
iGMDRD77	Itraconazole	5
iGMDRD221	Tamoxifen	2
iGMDRD352	PD-0325901	2
iGMDRD237	ABT-751	1
iGMDRD406	Binimetinib	2
iGMDRD1002	rTRAIL	1
iGMDRD154	NSC23766	2
iGMDRD123	Isoevodiamine	1
iGMDRD522	ML-030	1
iGMDRD100	Zebularine	1
iGMDRD887	Compound 23 citrate	4
iGMDRD444	Tivantinib	3
iGMDRD134	Sorafenib	3
iGMDRD138	PX 12	4
iGMDRD309	17AAG	1
iGMDRD446	LY 2183240	1
iGMDRD253	Vincaleukoblastine	4
iGMDRD359	OSW-1	2
iGMDRD375	GW-405833	5
iGMDRD776	QL-XI-92	1
iGMDRD297	Austocystin D	5
iGMDRD579	PF750	1
iGMDRD462	OSI-906 (Linsitinib)	2
iGMDRD269	Purmorphamine	1
iGMDRD837	Bevacizumab	8
iGMDRD695	FR-180204	1
iGMDRD886	Compound 1541A	1
iGMDRD310	Everolimus	22
iGMDRD481	Dactolisib	3
iGMDRD333	MEK Inhibitor	14
iGMDRD267	Oligomycin A	1
iGMDRD434	BMS-536924	3
iGMDRD536	PLX-4720	1
iGMDRD132	(-)-gallocatechin-3-O-gallate	1
iGMDRD211	(1S,3R)-RSL3	3
iGMDRD177	Teniposide	4
iGMDRD410	Ko-143	1
iGMDRD512	nutlin 3	1
iGMDRD84	Lovastatin acid	3
iGMDRD116	CD437	3
iGMDRD125	BIRB-796	1
iGMDRD424	Tamatinib	2
iGMDRD506	Fedratinib	2
iGMDRD780	PP-30	2
iGMDRD399	Selumetinib	8
iGMDRD41	Imatinib	2
iGMDRD874	BRD8958	2
iGMDRD460	VTX-11e	1
iGMDRD190	Nilotinib	7
iGMDRD369	TGX-115	1
iGMDRD64	Parbendazole	4
iGMDRD513	BML-259	2
iGMDRD593	CX-5461	1
iGMDRD52	Rotenone	4
iGMDRD284	Palbociclib	1
iGMDRD316	N9-Isopropyl-olomoucine	1
iGMDRD152	179324-69-7	1
iGMDRD107	Valdecoxib	2
iGMDRD394	BX-795	4
iGMDRD420	Leucascandrolide A	6
iGMDRD126	Tipifarnib	6
iGMDRD151	CHM-1	2
iGMDRD974	PD1 blockade	1
iGMDRD781	Sirolimus	9
iGMDRD779	PRL-3 Inhibitor I	4
iGMDRD427	ABT737	2
iGMDRD329	Merck60	3
iGMDRD968	Pan-RAF inhibitor	2
iGMDRD366	PI-103	3
iGMDRD868	BRD4 inhibitor	2
iGMDRD705	Nakiterpiosin	2
iGMDRD289	Parthenolide	3
iGMDRD383	Cediranib	2
iGMDRD165	Tretinoin	2
iGMDRD341	Triacsin c	3
iGMDRD945	ML214	2
iGMDRD523	Cyanoquinoline, 11	4
iGMDRD150	RITA	3
iGMDRD532	Olaparib	3
iGMDRD312	Pelitinib	1
iGMDRD596	Vemurafenib	7
iGMDRD131	Erlotinib	8
iGMDRD60	Quinoclamine	7
iGMDRD344	AZD7545	1
iGMDRD255	SB225002	2
iGMDRD669	PDK1 inhibitor	1
iGMDRD916	Genentech Cpd 10	1
iGMDRD491	TAE-684	1
iGMDRD885	Compound 110	1
iGMDRD388	YM201636	1
iGMDRD441	TW 37	1
iGMDRD318	PAC-1	3
iGMDRD870	BRD63610	6
iGMDRD973	PD1 Ab inhibitor	2
iGMDRD578	PLX3397	4
iGMDRD193	Fqi1	3
iGMDRD201	SKI II	2
iGMDRD828	AURK inhibitor	2
iGMDRD401	Afatinib	1
iGMDRD387	CHIR-99021	2
iGMDRD112	Methotrexate	1
iGMDRD136	Nutlin-3	1
iGMDRD239	Dasatinib	2
iGMDRD414	MST-312	3
iGMDRD872	BRD7137	3
iGMDRD938	KIT inhibitor	2
iGMDRD646	PHA-793887	1
iGMDRD82	Quiflapon	4
iGMDRD505	Pevonedistat	4
iGMDRD300	Tozasertib	1
iGMDRD68	Paclitaxel	1
iGMDRD351	GW843682X	3
iGMDRD347	Y-39983	1
iGMDRD382	CEP-701	1
iGMDRD701	NVP-AUY922	2
iGMDRD456	Crizotinib	1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in NF1

SITE

DATATYPES

CLASSFICATION

Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.