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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].

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Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
Nameneurofibromin 1 OMIM IDMIM:613113 Ensembl IDEnsembl:ENSG00000196712 HGNC IDHGNC:HGNC:7765 PHARMGKB IDPA31572 Map Location17q11.2

Gene Categories:

KINASE SERINE THREONINE KINASE CLINICALLY ACTIONABLE

GO terms in NF1

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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

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Gene expression in normal tissue: NF1

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in NF1

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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

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Gene-Drug: Aster Plot

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Drug ID	Drug Name	Model Num.
iGMDRD888	Compound 44	4
iGMDRD133	Lapatinib	1
iGMDRD356	PNU-74654	3
iGMDRD23	Gossypol	3

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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in NF1

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	Model	Level	Reference ID	Tissue	Cancer	Drug	Clinical Response	Source
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