• Gene id: 4763

Gene Summary

• Gene Symbol: NF1   Gene   UCSC   Ensembl
• Aliases: NFNS, VRNF, WSS
• Gene name: neurofibromin 1
• Alternate names: neurofibromin, neurofibromatosis 1, neurofibromatosis-related protein NF-1, truncated neurofibromin 1,
• Gene location: 17q11.2 (31094926: 31377676)     Exons: 58     NC_000017.11
• Gene summary(Entrez): 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 subj
• OMIM: 612328

Protein Summary

• Protein general information: P21359  
  • Name: Neurofibromin (Neurofibromatosis related protein NF 1) [Cleaved into: Neurofibromin truncated]
  • Length: 2839  
  • Mass: 319372
  • Tissue specificity: Detected in brain, peripheral nerve, lung, colon and muscle. {ECO
• Sequence:

  MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTTILKNVNNMRIFGEAA
  EKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNF
  NAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVE
  NYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLILCPEIIQDISKDVVDENNMNKKLFL
  DSLRKALAGHGGSRQLTESAAIACVKLCKASTYINWEDNSVIFLLVQSMVVDLKNLLFNPSKPFSRGSQPADVDL
  MIDCLVSCFRISPHNNQHFKICLAQNSPSTFHYVLVNSLHRIITNSALDWWPKIDAVYCHSVELRNMFGETLHKA
  VQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYKYLLLSMVKLIHADPKLLLCNPRKQGPETQGSTAEL
  ITGLVQLVPQSHMPEIAQEAMEALLVLHQLDSIDLWNPDAPVETFWEISSQMLFYICKKLTSHQMLSSTEILKWL
  REILICRNKFLLKNKQADRSSCHFLLFYGVGCDIPSSGNTSQMSMDHEELLRTPGASLRKGKGNSSMDSAAGCSG
  TPPICRQAQTKLEVALYMFLWNPDTEAVLVAMSCFRHLCEEADIRCGVDEVSVHNLLPNYNTFMEFASVSNMMST
  GRAALQKRVMALLRRIEHPTAGNTEAWEDTHAKWEQATKLILNYPKAKMEDGQAAESLHKTIVKRRMSHVSGGGS
  IDLSDTDSLQEWINMTGFLCALGGVCLQQRSNSGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLS
  LMVCNHEKVGLQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDSQGQVLLTDTNTQFVEQTIAIMKNLLDNH
  TEGSSEHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLCQLVEVMMARRDDLSFCQEMKFRNKMVEYLTDWVM
  GTSNQAADDDVKCLTRDLDQASMEAVVSLLAGLPLQPEEGDGVELMEAKSQLFLKYFTLFMNLLNDCSEVEDESA
  QTGGRKRGMSRRLASLRHCTVLAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQGTEFDTLAETV
  LADRFERLVELVTMMGDQGELPIAMALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNMFSKEVELADSMQTLF
  RGNSLASKIMTFCFKVYGATYLQKLLDPLLRIVITSSDWQHVSFEVDPTRLEPSESLEENQRNLLQMTEKFFHAI
  ISSSSEFPPQLRSVCHCLYQATCHSLLNKATVKEKKENKKSVVSQRFPQNSIGAVGSAMFLRFINPAIVSPYEAG
  ILDKKPPPRIERGLKLMSKILQSIANHVLFTKEEHMRPFNDFVKSNFDAARRFFLDIASDCPTSDAVNHSLSFIS
  DGNVLALHRLLWNNQEKIGQYLSSNRDHKAVGRRPFDKMATLLAYLGPPEHKPVADTHWSSLNLTSSKFEEFMTR
  HQVHEKEEFKALKTLSIFYQAGTSKAGNPIFYYVARRFKTGQINGDLLIYHVLLTLKPYYAKPYEIVVDLTHTGP
  SNRFKTDFLSKWFVVFPGFAYDNVSAVYIYNCNSWVREYTKYHERLLTGLKGSKRLVFIDCPGKLAEHIEHEQQK
  LPAATLALEEDLKVFHNALKLAHKDTKVSIKVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFT
  LTIANQGTPLTFMHQECEAIVQSIIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALLNLGSSDPSLRSAAYN
  LLCALTCTFNLKIEGQLLETSGLCIPANNTLFIVSISKTLAANEPHLTLEFLEECISGFSKSSIELKHLCLEYMT
  PWLSNLVRFCKHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSLGQITDLLDVVLDSFIKTSATGGLGS
  IKAEVMADTAVALASGNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHL
  PYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPKFYLLFGISKVKSAAV
  IAFRSSYRDRSFSPGSYERETFALTSLETVTEALLEIMEACMRDIPTCKWLDQWTELAQRFAFQYNPSLQPRALV
  VFGCISKRVSHGQIKQIIRILSKALESCLKGPDTYNSQVLIEATVIALTKLQPLLNKDSPLHKALFWVAVAVLQL
  DEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAIRNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRH
  PSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVRSRCSLKHRKSLLLTDISMENVPMDT
  YPIHHGDPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARKSMSLDMGQPSQANTKKLLGTRKSFDHLISD
  TKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLAT
  LVKYTTDEFDQRILYEYLAEASVVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQT
  SYLQSFGFNGLWRFAGPFSKQTQIPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITAN
  LNLSNSMTSLATSQHSPGIDKENVELSPTTGHCNSGRTRHGSASQVQKQRSAGSFKRNSIKKIV

• Structural information:
  • Protein Domains: (1235..145-)
    (/note="Ras-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00167-)
    (1580..173-)
    (/note="CRAL-TRIO-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00056"-)
  • Interpro: IPR016024  IPR001251  IPR036865  IPR011993  IPR039360   IPR023152  IPR001936  IPR008936  
  • Prosite: PS50191 PS00509 PS50018
  • CDD: cd00170
  • PDB: 1NF1 2D4Q 2E2X 3P7Z 3PEG 3PG7 6OB2 6OB3
  • PDBsum: 1NF1 2D4Q 2E2X 3P7Z 3PEG 3PG7 6OB2 6OB3
  • STRING: ENSP00000351015
• Other Databases: GeneCards:  NF1  Malacards:  NF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007265	Ras protein signal transduction	ISS	biological process
GO:0007154	cell communication	ISS	biological process
GO:0007507	heart development	ISS	biological process
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0006469	negative regulation of protein kinase activity	ISS	biological process
GO:0007406	negative regulation of neuroblast proliferation	ISS	biological process
GO:0007420	brain development	ISS	biological process
GO:0007422	peripheral nervous system development	ISS	biological process
GO:0030424	axon	IDA	cellular component
GO:0030425	dendrite	IDA	cellular component
GO:0008542	visual learning	ISS	biological process
GO:0021510	spinal cord development	ISS	biological process
GO:0001649	osteoblast differentiation	ISS	biological process
GO:0001656	metanephros development	ISS	biological process
GO:0001937	negative regulation of endothelial cell proliferation	IMP	biological process
GO:0042060	wound healing	ISS	biological process
GO:0048745	smooth muscle tissue development	ISS	biological process
GO:0043407	negative regulation of MAP kinase activity	ISS	biological process
GO:0043409	negative regulation of MAPK cascade	ISS	biological process
GO:0014044	Schwann cell development	ISS	biological process
GO:0014065	phosphatidylinositol 3-kinase signaling	ISS	biological process
GO:0001666	response to hypoxia	ISS	biological process
GO:0045762	positive regulation of adenylate cyclase activity	ISS	biological process
GO:0048715	negative regulation of oligodendrocyte differentiation	ISS	biological process
GO:0030036	actin cytoskeleton organization	ISS	biological process
GO:0030325	adrenal gland development	ISS	biological process
GO:0043547	positive regulation of GTPase activity	ISS	biological process
GO:0045124	regulation of bone resorption	ISS	biological process
GO:0043065	positive regulation of apoptotic process	ISS	biological process
GO:0043087	regulation of GTPase activity	IMP	biological process
GO:0043473	pigmentation	ISS	biological process
GO:0043525	positive regulation of neuron apoptotic process	ISS	biological process
GO:0043535	regulation of blood vessel endothelial cell migration	IMP	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0048485	sympathetic nervous system development	ISS	biological process
GO:0048844	artery morphogenesis	ISS	biological process
GO:0050890	cognition	IMP	biological process
GO:0021987	cerebral cortex development	ISS	biological process
GO:0030198	extracellular matrix organization	ISS	biological process
GO:0000165	MAPK cascade	ISS	biological process
GO:0001889	liver development	ISS	biological process
GO:0001952	regulation of cell-matrix adhesion	ISS	biological process
GO:0045685	regulation of glial cell differentiation	ISS	biological process
GO:0045765	regulation of angiogenesis	IMP	biological process
GO:0048593	camera-type eye morphogenesis	ISS	biological process
GO:0048853	forebrain morphogenesis	ISS	biological process
GO:0021897	forebrain astrocyte development	ISS	biological process
GO:0022011	myelination in peripheral nervous system	ISS	biological process
GO:0030199	collagen fibril organization	ISS	biological process
GO:0031210	phosphatidylcholine binding	IDA	molecular function
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0008429	phosphatidylethanolamine binding	IDA	molecular function
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048147	negative regulation of fibroblast proliferation	ISS	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0030336	negative regulation of cell migration	IMP	biological process
GO:0001937	negative regulation of endothelial cell proliferation	IMP	biological process
GO:0043547	positive regulation of GTPase activity	IMP	biological process
GO:0043409	negative regulation of MAPK cascade	IMP	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2001241	positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA	biological process
GO:1900271	regulation of long-term synaptic potentiation	IEA	biological process
GO:0061535	glutamate secretion, neurotransmission	IEA	biological process
GO:0061534	gamma-aminobutyric acid secretion, neurotransmission	IEA	biological process
GO:0048745	smooth muscle tissue development	IEA	biological process
GO:0048715	negative regulation of oligodendrocyte differentiation	IEA	biological process
GO:0048712	negative regulation of astrocyte differentiation	IEA	biological process
GO:0045762	positive regulation of adenylate cyclase activity	IEA	biological process
GO:0045671	negative regulation of osteoclast differentiation	IEA	biological process
GO:0043408	regulation of MAPK cascade	IEA	biological process
GO:0042308	negative regulation of protein import into nucleus	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0042060	wound healing	IEA	biological process
GO:0035021	negative regulation of Rac protein signal transduction	IEA	biological process
GO:0034605	cellular response to heat	IEA	biological process
GO:0032228	regulation of synaptic transmission, GABAergic	IEA	biological process
GO:0030336	negative regulation of cell migration	IEA	biological process
GO:0030325	adrenal gland development	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0021915	neural tube development	IEA	biological process
GO:0021510	spinal cord development	IEA	biological process
GO:0016525	negative regulation of angiogenesis	IEA	biological process
GO:0014065	phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0014044	Schwann cell development	IEA	biological process
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0007265	Ras protein signal transduction	IEA	biological process
GO:0007154	cell communication	IEA	biological process
GO:0001953	negative regulation of cell-matrix adhesion	IEA	biological process
GO:0001937	negative regulation of endothelial cell proliferation	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0001656	metanephros development	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0098597	observational learning	IEA	biological process
GO:0048853	forebrain morphogenesis	IEA	biological process
GO:0048844	artery morphogenesis	IEA	biological process
GO:0048820	hair follicle maturation	IEA	biological process
GO:0048593	camera-type eye morphogenesis	IEA	biological process
GO:0048485	sympathetic nervous system development	IEA	biological process
GO:0048169	regulation of long-term neuronal synaptic plasticity	IEA	biological process
GO:0048147	negative regulation of fibroblast proliferation	IEA	biological process
GO:0046929	negative regulation of neurotransmitter secretion	IEA	biological process
GO:0046580	negative regulation of Ras protein signal transduction	IEA	biological process
GO:0045765	regulation of angiogenesis	IEA	biological process
GO:0045685	regulation of glial cell differentiation	IEA	biological process
GO:0045124	regulation of bone resorption	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043525	positive regulation of neuron apoptotic process	IEA	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0043409	negative regulation of MAPK cascade	IEA	biological process
GO:0043407	negative regulation of MAP kinase activity	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0030199	collagen fibril organization	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0022011	myelination in peripheral nervous system	IEA	biological process
GO:0021987	cerebral cortex development	IEA	biological process
GO:0021897	forebrain astrocyte development	IEA	biological process
GO:0021764	amygdala development	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0008542	visual learning	IEA	biological process
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007422	peripheral nervous system development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007406	negative regulation of neuroblast proliferation	IEA	biological process
GO:0006469	negative regulation of protein kinase activity	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0001952	regulation of cell-matrix adhesion	IEA	biological process
GO:0001938	positive regulation of endothelial cell proliferation	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0000165	MAPK cascade	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa04014	Ras signaling pathway
hsa01521	EGFR tyrosine kinase inhibitor resistance

Diseases

Associated diseases	References
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Noonan syndrome and related disorders	KEGG:H00523
Malignant paraganglioma	KEGG:H01510
Neurofibromatosis type 1	KEGG:H01437
Watson syndrome	KEGG:H02188
Neurofibromatosis-Noonan syndrome	KEGG:H02189
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Noonan syndrome and related disorders	KEGG:H00523
Malignant paraganglioma	KEGG:H01510
Neurofibromatosis type 1	KEGG:H01437
Watson syndrome	KEGG:H02188
Neurofibromatosis-Noonan syndrome	KEGG:H02189
Neurofibromatosis	PMID:2134734
autistic disorder	PMID:15389774
Astrocytoma	PMID:10931370
Malignant glioma	PMID:26190195
Optic nerve glioma	PMID:21278392
acute myeloid leukemia	PMID:12518368
acute myeloid leukemia	PMID:23460398
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray