HCSGD entry for NF1

1. General information

Official gene symbolNF1
Entrez ID4763
Gene full nameneurofibromin 1
Other gene symbolsNFNS VRNF WSS
Links to Entrez GeneLinks to Entrez Gene

2. Neighbors in the network

color bar
This gene isn't in PPI subnetwork.

3. Gene ontology annotation

GO ID

GO term

Evidence

Category

GO:0000165MAPK cascadeIEA ISSbiological_process
GO:0001649Osteoblast differentiationIEA ISSbiological_process
GO:0001656Metanephros developmentIEA ISSbiological_process
GO:0001666Response to hypoxiaIEA ISSbiological_process
GO:0001889Liver developmentIEA ISSbiological_process
GO:0001937Negative regulation of endothelial cell proliferationIEA IMPbiological_process
GO:0001938Positive regulation of endothelial cell proliferationIEAbiological_process
GO:0001952Regulation of cell-matrix adhesionISSbiological_process
GO:0001953Negative regulation of cell-matrix adhesionIEAbiological_process
GO:0005099Ras GTPase activator activityIDA IEAmolecular_function
GO:0005515Protein bindingIPImolecular_function
GO:0005622IntracellularIEAcellular_component
GO:0005634NucleusISScellular_component
GO:0005737CytoplasmIBA IEA ISScellular_component
GO:0006469Negative regulation of protein kinase activityISSbiological_process
GO:0007154Cell communicationISSbiological_process
GO:0007165Signal transductionIEAbiological_process
GO:0007265Ras protein signal transductionIEA ISSbiological_process
GO:0007406Negative regulation of neuroblast proliferationIEA ISSbiological_process
GO:0007420Brain developmentISSbiological_process
GO:0007422Peripheral nervous system developmentISSbiological_process
GO:0007507Heart developmentIEA ISSbiological_process
GO:0007519Skeletal muscle tissue developmentIEAbiological_process
GO:0008429Phosphatidylethanolamine bindingIDAmolecular_function
GO:0008542Visual learningIEA ISSbiological_process
GO:0008625Extrinsic apoptotic signaling pathway via death domain receptorsIEAbiological_process
GO:0014044Schwann cell developmentISSbiological_process
GO:0014065Phosphatidylinositol 3-kinase signalingIEA ISSbiological_process
GO:0016525Negative regulation of angiogenesisIEAbiological_process
GO:0021510Spinal cord developmentIEA ISSbiological_process
GO:0021897Forebrain astrocyte developmentIEA ISSbiological_process
GO:0021915Neural tube developmentIEAbiological_process
GO:0021987Cerebral cortex developmentIEA ISSbiological_process
GO:0022011Myelination in peripheral nervous systemIEA ISSbiological_process
GO:0030036Actin cytoskeleton organizationIEA ISSbiological_process
GO:0030198Extracellular matrix organizationISSbiological_process
GO:0030199Collagen fibril organizationIEA ISSbiological_process
GO:0030325Adrenal gland developmentIEA ISSbiological_process
GO:0030336Negative regulation of cell migrationIEA IMPbiological_process
GO:0030424AxonIDAcellular_component
GO:0030425DendriteIDAcellular_component
GO:0031210Phosphatidylcholine bindingIDAmolecular_function
GO:0031235Intrinsic component of the cytoplasmic side of the plasma membraneIBAcellular_component
GO:0032228Regulation of synaptic transmission, GABAergicIEAbiological_process
GO:0032318Regulation of Ras GTPase activityIMPbiological_process
GO:0032320Positive regulation of Ras GTPase activityIDA IMP ISSbiological_process
GO:0035021Negative regulation of Rac protein signal transductionIEAbiological_process
GO:0042060Wound healingIEA ISSbiological_process
GO:0042992Negative regulation of transcription factor import into nucleusIEA ISSbiological_process
GO:0043065Positive regulation of apoptotic processISSbiological_process
GO:0043407Negative regulation of MAP kinase activityIEA ISSbiological_process
GO:0043409Negative regulation of MAPK cascadeIMP ISSbiological_process
GO:0043473PigmentationIEA ISSbiological_process
GO:0043525Positive regulation of neuron apoptotic processIEA ISSbiological_process
GO:0043535Regulation of blood vessel endothelial cell migrationIMPbiological_process
GO:0045124Regulation of bone resorptionIEA ISSbiological_process
GO:0045671Negative regulation of osteoclast differentiationIEAbiological_process
GO:0045685Regulation of glial cell differentiationISSbiological_process
GO:0045762Positive regulation of adenylate cyclase activityIEA ISSbiological_process
GO:0045765Regulation of angiogenesisIMPbiological_process
GO:0046580Negative regulation of Ras protein signal transductionIBA IEAbiological_process
GO:0046929Negative regulation of neurotransmitter secretionIEAbiological_process
GO:0048147Negative regulation of fibroblast proliferationIEA ISSbiological_process
GO:0048169Regulation of long-term neuronal synaptic plasticityIEAbiological_process
GO:0048485Sympathetic nervous system developmentIEA ISSbiological_process
GO:0048593Camera-type eye morphogenesisIEA ISSbiological_process
GO:0048712Negative regulation of astrocyte differentiationIEAbiological_process
GO:0048715Negative regulation of oligodendrocyte differentiationIEA ISSbiological_process
GO:0048745Smooth muscle tissue developmentIEA ISSbiological_process
GO:0048844Artery morphogenesisIEA ISSbiological_process
GO:0048853Forebrain morphogenesisIEA ISSbiological_process
GO:0050890CognitionIMPbiological_process
GO:1902043Positive regulation of extrinsic apoptotic signaling pathway via death domain receptorsIEAbiological_process
GO:2001241Positive regulation of extrinsic apoptotic signaling pathway in absence of ligandIEAbiological_process
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4. Expression levels in datasets

  • Meta-analysis result

p-value upp-value downFDR upFDR down
0.35699854110.95113803050.99999024731.0000000000

  • Individual experiment result
    ( "-" represent NA in the specific microarray platform )

Data sourceUp or downLog fold change
GSE11954Down-0.1043154227
GSE13712_SHEARUp0.1632581706
GSE13712_STATICUp0.1472447427
GSE19018Up0.1728364874
GSE19899_A1Up0.0747465454
GSE19899_A2Up0.1764948561
PubMed_21979375_A1Up0.1712939725
PubMed_21979375_A2Up0.2657988237
GSE35957Up0.0369049036
GSE36640Down-0.0415005985
GSE54402Up0.2073816077
GSE9593Up0.0520915023
GSE43922Up0.0071825622
GSE24585Up0.0888339838
GSE37065Up0.1087005409
GSE28863_A1Up0.1259975745
GSE28863_A2Down-0.0619604124
GSE28863_A3Down-0.1378590592
GSE28863_A4Up0.0572051703
GSE48662Up0.1836893861

5. Regulation relationships with compounds/drugs/microRNAs

  • Compounds

Not regulated by compounds

  • Drugs

Not regulated by drugs

  • MicroRNAs

    • mirTarBase

MiRNA_name

mirBase ID

miRTarBase ID

Experiment

Support type

References (Pubmed ID)

hsa-miR-10b-5pMIMAT0000254MIRT005504GFP reporter assay//Luciferase reporter assay//Microarray//qRT-PCRFunctional MTI20550523
hsa-miR-370-3pMIMAT0000722MIRT007052Luciferase reporter assayFunctional MTI23077663
hsa-miR-20a-3pMIMAT0004493MIRT038968CLASHFunctional MTI (Weak)23622248
hsa-miR-193b-3pMIMAT0002819MIRT041324CLASHFunctional MTI (Weak)23622248
hsa-let-7e-5pMIMAT0000066MIRT051457CLASHFunctional MTI (Weak)23622248
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    • mirRecord
No target information from mirRecord

6. Text-mining results about the gene

Gene occurances in abstracts of cellular senescence-associated articles: 4 abstracts the gene occurs.


PubMed ID of the article

Sentenece the gene occurs

25220407TGF-beta/NF1/Smad4-mediated suppression of ANT2 contributes to oxidative stress in cellular senescence
25220407We previously reported formation of novel NF1/Smad transcription repressor complexes in growth-arrested fibroblasts
25220407Mechanistically, binding of the NF1/Smad complexes to the NF1-dependent repressor elements in the ANT2 gene promoter repressed ANT2 expression
25220407Together, our data show that TGF-beta-mediated suppression of ANT2 through NF1/Smad4 complexes contributes to oxidative stress and DNA damage during induction of cellular senescence
23145129Loss of NF1 expression in human endothelial cells promotes autonomous proliferation and altered vascular morphogenesis
23145129The loss of NFl from the endothelium is embryonically lethal in mouse developmental models, however little is known regarding the molecular regulation by NF1 in endothelium
23145129We investigated the consequences of losing NF1 expression on the function of endothelial cells using shRNA
23145129The loss of NF1 was sufficient to elevate levels of active Ras under non-stimulated conditions
23145129Cells knocked down in NF1 expression exhibited no cellular senescence
23145129We find the changes induced by the loss of NF1 could be mitigated by co-expression of the GAP-related domain of NF1 implicating Ras regulation in these effects
23145129Using doxycycline-inducible shRNA, targeting NF1, we find that the morphogenic changes are reversible
23145129Similarly, in fully differentiated and stable vascular-like structures, the silencing of NF1 results in the appearance of abnormal vascular structures
23145129These data provide a detailed analysis of the molecular and functional consequences of NF1 loss in human endothelial cells
16893911Neurofibromin plays a critical role in modulating osteoblast differentiation of mesenchymal stem/progenitor cells
16893911Mutations in the NF1 tumor suppressor gene cause neurofibromatosis type 1, a pandemic autosomal dominant genetic disorder with an incidence of 1:3000
16893911Individuals with NF1 have a variety of malignant and non-malignant manifestations, including skeletal manifestations, such as osteoporosis, scoliosis and short statures
16893911However, the mechanism(s) underlying the osseous manifestations in NF1 are poorly understood
16893911In the present study, utilizing Nf1 haploinsufficient (+/-) mice, we demonstrate that Nf1+/- mesenchymal stem/progenitor cells (MSPC) have increased proliferation and colony forming unit-fibroblast (CFU-F) capacity compared with wild-type (WT) MSPC
16893911Nf1+/- MSPC also have fewer senescent cells and have a significantly higher telomerase activity compared with WT MSPC
16893911Nf1+/- MSPC have impaired osteoblast differentiation as determined by alkaline phosphatase staining, and confirmed by single CFU-F replating assays
16893911The impaired osteoblast differentiation in Nf1+/- MSPC is consistent with the reduced expression of osteoblast markers at the mRNA level, including osteocalcin and osteonectin
16893911Importantly, re-expression of the full-length NF1 GTPase activating related domain (NF1 GAP-related domain) is sufficient to restore the impaired osteoblast differentiation in Nf1+/- MSPC
16893911Taken together, our results suggest that neurofibromin plays a crucial role in modulating MSPC differentiation into osteoblasts, and the defect in osteoblast differentiation may contribute at least in part to the osseous abnormalities seen in individuals with NF1
11213969OBJECT: Patients with neurofibromatosis Type 1 (NF1) have a predisposition to development of a variety of benign and malignant tumors including neurofibromas, astrocytomas, pheochromocytomas, and malignant peripheral nerve sheath tumors
11213969The availability of an astrocytoma cell line derived from NF1 would be useful in studies in which sporadic astrocytomas could be compared with NF1-derived astrocytomas
11213969In this article the authors describe a novel astrocytoma cell line, TM-31, that they established from a tumor removed in a 42-year-old woman with NF1
11213969The TM-31 cells display little neurofibromin expression when subjected to immunoblotting, indicating that there is an NF1 gene mutation
11213969CONCLUSIONS: The TM-31 cell line is an immortalized astrocytoma cell line derived from a tumor obtained in a patient with NF1
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