Names & Taxonomy

Uniprot ID:
P21359
Entry Name:
NF1_HUMAN
Status:
reviewed
Protein Names:
Neurofibromin (Neurofibromatosis-related protein NF-1) [Cleaved into: Neurofibromin truncated]
Gene Names:
NF1
Gene Names Primary:
NF1
Organism:
Homo sapiens (Human)

Structure

Length:
2839
Sequence:
MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTTILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHFLHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELLQYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQTDMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLILCPEIIQDISKDVVDENNMNKKLFLDSLRKALAGHGGSRQLTESAAIACVKLCKASTYINWEDNSVIFLLVQSMVVDLKNLLFNPSKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLAQNSPSTFHYVLVNSLHRIITNSALDWWPKIDAVYCHSVELRNMFGETLHKAVQGCGAHPAIRMAPSLTFKEKVTSLKFKEKPTDLETRSYKYLLLSMVKLIHADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPEIAQEAMEALLVLHQLDSIDLWNPDAPVETFWEISSQMLFYICKKLTSHQMLSSTEILKWLREILICRNKFLLKNKQADRSSCHFLLFYGVGCDIPSSGNTSQMSMDHEELLRTPGASLRKGKGNSSMDSAAGCSGTPPICRQAQTKLEVALYMFLWNPDTEAVLVAMSCFRHLCEEADIRCGVDEVSVHNLLPNYNTFMEFASVSNMMSTGRAALQKRVMALLRRIEHPTAGNTEAWEDTHAKWEQATKLILNYPKAKMEDGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINMTGFLCALGGVCLQQRSNSGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLSLMVCNHEKVGLQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDSQGQVLLTDTNTQFVEQTIAIMKNLLDNHTEGSSEHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLCQLVEVMMARRDDLSFCQEMKFRNKMVEYLTDWVMGTSNQAADDDVKCLTRDLDQASMEAVVSLLAGLPLQPEEGDGVELMEAKSQLFLKYFTLFMNLLNDCSEVEDESAQTGGRKRGMSRRLASLRHCTVLAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQGTEFDTLAETVLADRFERLVELVTMMGDQGELPIAMALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNMFSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKLLDPLLRIVITSSDWQHVSFEVDPTRLEPSESLEENQRNLLQMTEKFFHAIISSSSEFPPQLRSVCHCLYQATCHSLLNKATVKEKKENKKSVVSQRFPQNSIGAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLKLMSKILQSIANHVLFTKEEHMRPFNDFVKSNFDAARRFFLDIASDCPTSDAVNHSLSFISDGNVLALHRLLWNNQEKIGQYLSSNRDHKAVGRRPFDKMATLLAYLGPPEHKPVADTHWSSLNLTSSKFEEFMTRHQVHEKEEFKALKTLSIFYQAGTSKAGNPIFYYVARRFKTGQINGDLLIYHVLLTLKPYYAKPYEIVVDLTHTGPSNRFKTDFLSKWFVVFPGFAYDNVSAVYIYNCNSWVREYTKYHERLLTGLKGSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVFHNALKLAHKDTKVSIKVGSTAVQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFTLTIANQGTPLTFMHQECEAIVQSIIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALLNLGSSDPSLRSAAYNLLCALTCTFNLKIEGQLLETSGLCIPANNTLFIVSISKTLAANEPHLTLEFLEECISGFSKSSIELKHLCLEYMTPWLSNLVRFCKHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSLGQITDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALASGNVKLVSSKVIGRMCKIIDKTCLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHLPYLFHVVTFLVATGPLSLRASTHGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPKFYLLFGISKVKSAAVIAFRSSYRDRSFSPGSYERETFALTSLETVTEALLEIMEACMRDIPTCKWLDQWTELAQRFAFQYNPSLQPRALVVFGCISKRVSHGQIKQIIRILSKALESCLKGPDTYNSQVLIEATVIALTKLQPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFMAIRNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRHPSPAIVARTVRILHTLLTLVNKHRNCDKFEVNTQSVAYLAALLTVSEEVRSRCSLKHRKSLLLTDISMENVPMDTYPIHHGDPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARKSMSLDMGQPSQANTKKLLGTRKSFDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSESNVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILYEYLAEASVVFPKVFPVVHNLLDSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQTQIPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNSMTSLATSQHSPGIDKENVELSPTTGHCNSGRTRHGSASQVQKQRSAGSFKRNSIKKIV
Proteomes:
UP000005640

Subcellular location

Subcellular Location:
Nucleus

Function

Function:
Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.
Gene Ontology Go:
axon
cytoplasm
cytosol
dendrite
intrinsic component of the cytoplasmic side of the plasma membrane
membrane
nucleolus
nucleus
presynapse
GTPase activator activity
phosphatidylcholine binding
phosphatidylethanolamine binding
actin cytoskeleton organization
activation of MAPKK activity
adrenal gland development
amygdala development
artery morphogenesis
axon guidance
brain development
camera-type eye morphogenesis
cell communication
cellular response to heat
cerebral cortex development
cognition
collagen fibril organization
epidermal growth factor receptor signaling pathway
extracellular matrix organization
extrinsic apoptotic signaling pathway via death domain receptors
Fc-epsilon receptor signaling pathway
fibroblast growth factor receptor signaling pathway
forebrain astrocyte development
forebrain morphogenesis
gamma-aminobutyric acid secretion, neurotransmission
glutamate secretion, neurotransmission
heart development
innate immune response
insulin receptor signaling pathway
liver development
MAPK cascade
metanephros development
myelination in peripheral nervous system
negative regulation of angiogenesis
negative regulation of astrocyte differentiation
negative regulation of cell migration
negative regulation of cell-matrix adhesion
negative regulation of endothelial cell proliferation
negative regulation of fibroblast proliferation
negative regulation of MAP kinase activity
negative regulation of MAPK cascade
negative regulation of neuroblast proliferation
negative regulation of neurotransmitter secretion
negative regulation of oligodendrocyte differentiation
negative regulation of osteoclast differentiation
negative regulation of protein kinase activity
negative regulation of Rac protein signal transduction
negative regulation of Ras protein signal transduction
negative regulation of transcription factor import into nucleus
neural tube development
neurotrophin TRK receptor signaling pathway
observational learning
osteoblast differentiation
peripheral nervous system development
phosphatidylinositol 3-kinase signaling
pigmentation
positive regulation of adenylate cyclase activity
positive regulation of apoptotic process
positive regulation of endothelial cell proliferation
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
positive regulation of GTPase activity
positive regulation of neuron apoptotic process
Ras protein signal transduction
regulation of angiogenesis
regulation of blood vessel endothelial cell migration
regulation of bone resorption
regulation of cell-matrix adhesion
regulation of gene expression
regulation of glial cell differentiation
regulation of GTPase activity
regulation of long-term neuronal synaptic plasticity
regulation of long-term synaptic potentiation
regulation of synaptic transmission, GABAergic
response to hypoxia
Schwann cell development
skeletal muscle tissue development
small GTPase mediated signal transduction
smooth muscle tissue development
spinal cord development
sympathetic nervous system development
vascular endothelial growth factor receptor signaling pathway
visual learning
wound healing
Gene Ontology Biological Process:
actin cytoskeleton organization
activation of MAPKK activity
adrenal gland development
amygdala development
artery morphogenesis
axon guidance
brain development
camera-type eye morphogenesis
cell communication
cellular response to heat
cerebral cortex development
cognition
collagen fibril organization
epidermal growth factor receptor signaling pathway
extracellular matrix organization
extrinsic apoptotic signaling pathway via death domain receptors
Fc-epsilon receptor signaling pathway
fibroblast growth factor receptor signaling pathway
forebrain astrocyte development
forebrain morphogenesis
gamma-aminobutyric acid secretion, neurotransmission
glutamate secretion, neurotransmission
heart development
innate immune response
insulin receptor signaling pathway
liver development
MAPK cascade
metanephros development
myelination in peripheral nervous system
negative regulation of angiogenesis
negative regulation of astrocyte differentiation
negative regulation of cell-matrix adhesion
negative regulation of cell migration
negative regulation of endothelial cell proliferation
negative regulation of fibroblast proliferation
negative regulation of MAPK cascade
negative regulation of MAP kinase activity
negative regulation of neuroblast proliferation
negative regulation of neurotransmitter secretion
negative regulation of oligodendrocyte differentiation
negative regulation of osteoclast differentiation
negative regulation of protein kinase activity
negative regulation of Rac protein signal transduction
negative regulation of Ras protein signal transduction
negative regulation of transcription factor import into nucleus
neural tube development
neurotrophin TRK receptor signaling pathway
observational learning
osteoblast differentiation
peripheral nervous system development
phosphatidylinositol 3-kinase signaling
pigmentation
positive regulation of adenylate cyclase activity
positive regulation of apoptotic process
positive regulation of endothelial cell proliferation
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
positive regulation of extrinsic apoptotic signaling pathway via death domain receptors
positive regulation of GTPase activity
positive regulation of neuron apoptotic process
Ras protein signal transduction
regulation of angiogenesis
regulation of blood vessel endothelial cell migration
regulation of bone resorption
regulation of cell-matrix adhesion
regulation of gene expression
regulation of glial cell differentiation
regulation of GTPase activity
regulation of long-term neuronal synaptic plasticity
regulation of long-term synaptic potentiation
regulation of synaptic transmission, GABAergic
response to hypoxia
Schwann cell development
skeletal muscle tissue development
small GTPase mediated signal transduction
smooth muscle tissue development
spinal cord development
sympathetic nervous system development
vascular endothelial growth factor receptor signaling pathway
visual learning
wound healing
Gene Ontology Molecular Function:
GTPase activator activity
phosphatidylcholine binding
phosphatidylethanolamine binding
Gene Ontology Cellular Component:
axon
cytoplasm
cytosol
dendrite
intrinsic component of the cytoplasmic side of the plasma membrane
membrane
nucleolus
nucleus
presynapse
Keywords:
3D-structure
Acetylation
Alternative splicing
Complete proteome
Disease mutation
GTPase activation
Lipid-binding
Nucleus
Phosphoprotein
Polymorphism
RNA editing
Reference proteome
Tumor suppressor
Interacts With:
P05067; P34741

Publication

PubMed ID:
1457041 2134734 1783401 1339276 7570581 16625196 2114220 2116237 9002664 7774960 2121370 1923522 8417346 1662505 2121371 8602361 11727199 7981724 8825042 14988005 18220336 18691976 18669648 19413330 19369195 19690332 20068231 21269460 21406692 23027611 24275569 9687500 16397625 17187824 21089070 1568247 1302608 8317503 7904209 7981679 8081387 8544190 8834249 8807336 9003501 9150739 9101300 9298829 9668168 10336779 11258625 10220149 10712197 10607834 10980545 11704931 11735023 11857752 12707950 12522551 12552569 12746402 15523642 15146469 15060124 15520408 15948193 16380919 16959974 17160901 19845691 21838856 22108604 23758643 24413922