Summary | |
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Symbol | NF1 |
Name | neurofibromin 1 |
Aliases | neurofibromatosis; von Recklinghausen disease; Watson disease; NFNS; VRNF; neurofibromatosis-related protein ...... |
Chromosomal Location | 17q11.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Basic function annotation. > Subcellular Location, Domain and Function > Gene Ontology > KEGG and Reactome Pathway |
Subcellular Location | Nucleus Nucleus, nucleolus |
Domain |
PF13716 Divergent CRAL/TRIO domain PF00616 GTPase-activator protein for Ras-like GTPase |
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. |
Biological Process |
GO:0001503 ossification GO:0001505 regulation of neurotransmitter levels GO:0001525 angiogenesis GO:0001649 osteoblast differentiation GO:0001654 eye development GO:0001655 urogenital system development GO:0001656 metanephros development GO:0001666 response to hypoxia GO:0001667 ameboidal-type cell migration GO:0001822 kidney development GO:0001889 liver development GO:0001894 tissue homeostasis GO:0001933 negative regulation of protein phosphorylation GO:0001935 endothelial cell proliferation GO:0001936 regulation of endothelial cell proliferation GO:0001937 negative regulation of endothelial cell proliferation GO:0001938 positive regulation of endothelial cell proliferation GO:0001952 regulation of cell-matrix adhesion GO:0001953 negative regulation of cell-matrix adhesion GO:0002521 leukocyte differentiation GO:0002573 myeloid leukocyte differentiation GO:0002683 negative regulation of immune system process GO:0002761 regulation of myeloid leukocyte differentiation GO:0002762 negative regulation of myeloid leukocyte differentiation GO:0006140 regulation of nucleotide metabolic process GO:0006164 purine nucleotide biosynthetic process GO:0006171 cAMP biosynthetic process GO:0006469 negative regulation of protein kinase activity GO:0006606 protein import into nucleus GO:0006820 anion transport GO:0006835 dicarboxylic acid transport GO:0006836 neurotransmitter transport GO:0006913 nucleocytoplasmic transport GO:0007160 cell-matrix adhesion GO:0007162 negative regulation of cell adhesion GO:0007265 Ras protein signal transduction GO:0007269 neurotransmitter secretion GO:0007270 neuron-neuron synaptic transmission GO:0007272 ensheathment of neurons GO:0007405 neuroblast proliferation GO:0007406 negative regulation of neuroblast proliferation GO:0007422 peripheral nervous system development GO:0007423 sensory organ development GO:0007507 heart development GO:0007517 muscle organ development GO:0007519 skeletal muscle tissue development GO:0007611 learning or memory GO:0007612 learning GO:0007632 visual behavior GO:0008306 associative learning GO:0008366 axon ensheathment GO:0008542 visual learning GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors GO:0009150 purine ribonucleotide metabolic process GO:0009152 purine ribonucleotide biosynthetic process GO:0009165 nucleotide biosynthetic process GO:0009187 cyclic nucleotide metabolic process GO:0009190 cyclic nucleotide biosynthetic process GO:0009260 ribonucleotide biosynthetic process GO:0009266 response to temperature stimulus GO:0009314 response to radiation GO:0009408 response to heat GO:0009416 response to light stimulus GO:0010001 glial cell differentiation GO:0010594 regulation of endothelial cell migration GO:0010631 epithelial cell migration GO:0010632 regulation of epithelial cell migration GO:0010721 negative regulation of cell development GO:0010810 regulation of cell-substrate adhesion GO:0010812 negative regulation of cell-substrate adhesion GO:0014002 astrocyte development GO:0014013 regulation of gliogenesis GO:0014014 negative regulation of gliogenesis GO:0014037 Schwann cell differentiation GO:0014044 Schwann cell development GO:0014047 glutamate secretion GO:0014051 gamma-aminobutyric acid secretion GO:0014065 phosphatidylinositol 3-kinase signaling GO:0014706 striated muscle tissue development GO:0015711 organic anion transport GO:0015812 gamma-aminobutyric acid transport GO:0016525 negative regulation of angiogenesis GO:0016601 Rac protein signal transduction GO:0017038 protein import GO:0021510 spinal cord development GO:0021537 telencephalon development GO:0021543 pallium development GO:0021761 limbic system development GO:0021764 amygdala development GO:0021782 glial cell development GO:0021896 forebrain astrocyte differentiation GO:0021897 forebrain astrocyte development GO:0021915 neural tube development GO:0021987 cerebral cortex development GO:0022011 myelination in peripheral nervous system GO:0023061 signal release GO:0030099 myeloid cell differentiation GO:0030198 extracellular matrix organization GO:0030199 collagen fibril organization GO:0030316 osteoclast differentiation GO:0030325 adrenal gland development GO:0030336 negative regulation of cell migration GO:0030799 regulation of cyclic nucleotide metabolic process GO:0030801 positive regulation of cyclic nucleotide metabolic process GO:0030802 regulation of cyclic nucleotide biosynthetic process GO:0030804 positive regulation of cyclic nucleotide biosynthetic process GO:0030808 regulation of nucleotide biosynthetic process GO:0030810 positive regulation of nucleotide biosynthetic process GO:0030814 regulation of cAMP metabolic process GO:0030816 positive regulation of cAMP metabolic process GO:0030817 regulation of cAMP biosynthetic process GO:0030819 positive regulation of cAMP biosynthetic process GO:0030900 forebrain development GO:0031279 regulation of cyclase activity GO:0031281 positive regulation of cyclase activity GO:0031589 cell-substrate adhesion GO:0032228 regulation of synaptic transmission, GABAergic GO:0032292 peripheral nervous system axon ensheathment GO:0032386 regulation of intracellular transport GO:0032387 negative regulation of intracellular transport GO:0032844 regulation of homeostatic process GO:0033157 regulation of intracellular protein transport GO:0033673 negative regulation of kinase activity GO:0034103 regulation of tissue remodeling GO:0034504 protein localization to nucleus GO:0034605 cellular response to heat GO:0035020 regulation of Rac protein signal transduction GO:0035021 negative regulation of Rac protein signal transduction GO:0035249 synaptic transmission, glutamatergic GO:0035270 endocrine system development GO:0036293 response to decreased oxygen levels GO:0038034 signal transduction in absence of ligand GO:0040013 negative regulation of locomotion GO:0042063 gliogenesis GO:0042306 regulation of protein import into nucleus GO:0042308 negative regulation of protein import into nucleus GO:0042326 negative regulation of phosphorylation GO:0042552 myelination GO:0042990 regulation of transcription factor import into nucleus GO:0042991 transcription factor import into nucleus GO:0042992 negative regulation of transcription factor import into nucleus GO:0043010 camera-type eye development GO:0043062 extracellular structure organization GO:0043405 regulation of MAP kinase activity GO:0043407 negative regulation of MAP kinase activity GO:0043409 negative regulation of MAPK cascade GO:0043473 pigmentation GO:0043523 regulation of neuron apoptotic process GO:0043525 positive regulation of neuron apoptotic process GO:0043534 blood vessel endothelial cell migration GO:0043535 regulation of blood vessel endothelial cell migration GO:0043542 endothelial cell migration GO:0044708 single-organism behavior GO:0044744 protein targeting to nucleus GO:0045124 regulation of bone resorption GO:0045453 bone resorption GO:0045637 regulation of myeloid cell differentiation GO:0045638 negative regulation of myeloid cell differentiation GO:0045670 regulation of osteoclast differentiation GO:0045671 negative regulation of osteoclast differentiation GO:0045685 regulation of glial cell differentiation GO:0045686 negative regulation of glial cell differentiation GO:0045761 regulation of adenylate cyclase activity GO:0045762 positive regulation of adenylate cyclase activity GO:0045765 regulation of angiogenesis GO:0045981 positive regulation of nucleotide metabolic process GO:0046058 cAMP metabolic process GO:0046390 ribose phosphate biosynthetic process GO:0046578 regulation of Ras protein signal transduction GO:0046580 negative regulation of Ras protein signal transduction GO:0046717 acid secretion GO:0046822 regulation of nucleocytoplasmic transport GO:0046823 negative regulation of nucleocytoplasmic transport GO:0046849 bone remodeling GO:0046850 regulation of bone remodeling GO:0046928 regulation of neurotransmitter secretion GO:0046929 negative regulation of neurotransmitter secretion GO:0046942 carboxylic acid transport GO:0048015 phosphatidylinositol-mediated signaling GO:0048017 inositol lipid-mediated signaling GO:0048144 fibroblast proliferation GO:0048145 regulation of fibroblast proliferation GO:0048147 negative regulation of fibroblast proliferation GO:0048167 regulation of synaptic plasticity GO:0048168 regulation of neuronal synaptic plasticity GO:0048169 regulation of long-term neuronal synaptic plasticity GO:0048483 autonomic nervous system development GO:0048485 sympathetic nervous system development GO:0048514 blood vessel morphogenesis GO:0048592 eye morphogenesis GO:0048593 camera-type eye morphogenesis GO:0048708 astrocyte differentiation GO:0048709 oligodendrocyte differentiation GO:0048710 regulation of astrocyte differentiation GO:0048712 negative regulation of astrocyte differentiation GO:0048713 regulation of oligodendrocyte differentiation GO:0048715 negative regulation of oligodendrocyte differentiation GO:0048732 gland development GO:0048745 smooth muscle tissue development GO:0048771 tissue remodeling GO:0048844 artery morphogenesis GO:0048853 forebrain morphogenesis GO:0048854 brain morphogenesis GO:0048871 multicellular organismal homeostasis GO:0050673 epithelial cell proliferation GO:0050678 regulation of epithelial cell proliferation GO:0050679 positive regulation of epithelial cell proliferation GO:0050680 negative regulation of epithelial cell proliferation GO:0050768 negative regulation of neurogenesis GO:0050804 modulation of synaptic transmission GO:0050805 negative regulation of synaptic transmission GO:0050806 positive regulation of synaptic transmission GO:0050890 cognition GO:0051048 negative regulation of secretion GO:0051051 negative regulation of transport GO:0051056 regulation of small GTPase mediated signal transduction GO:0051058 negative regulation of small GTPase mediated signal transduction GO:0051169 nuclear transport GO:0051170 nuclear import GO:0051224 negative regulation of protein transport GO:0051271 negative regulation of cellular component movement GO:0051339 regulation of lyase activity GO:0051348 negative regulation of transferase activity GO:0051349 positive regulation of lyase activity GO:0051402 neuron apoptotic process GO:0051588 regulation of neurotransmitter transport GO:0051589 negative regulation of neurotransmitter transport GO:0051932 synaptic transmission, GABAergic GO:0051961 negative regulation of nervous system development GO:0052652 cyclic purine nucleotide metabolic process GO:0060249 anatomical structure homeostasis GO:0060291 long-term synaptic potentiation GO:0060537 muscle tissue development GO:0060538 skeletal muscle organ development GO:0060840 artery development GO:0061008 hepaticobiliary system development GO:0061351 neural precursor cell proliferation GO:0061534 gamma-aminobutyric acid secretion, neurotransmission GO:0061535 glutamate secretion, neurotransmission GO:0070482 response to oxygen levels GO:0070997 neuron death GO:0071900 regulation of protein serine/threonine kinase activity GO:0071901 negative regulation of protein serine/threonine kinase activity GO:0072001 renal system development GO:0072089 stem cell proliferation GO:0072091 regulation of stem cell proliferation GO:0072522 purine-containing compound biosynthetic process GO:0090130 tissue migration GO:0090132 epithelium migration GO:0090317 negative regulation of intracellular protein transport GO:0090596 sensory organ morphogenesis GO:0097191 extrinsic apoptotic signaling pathway GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand GO:0098597 observational learning GO:0099531 presynaptic process involved in chemical synaptic transmission GO:0099643 signal release from synapse GO:1900180 regulation of protein localization to nucleus GO:1900181 negative regulation of protein localization to nucleus GO:1900271 regulation of long-term synaptic potentiation GO:1900371 regulation of purine nucleotide biosynthetic process GO:1900373 positive regulation of purine nucleotide biosynthetic process GO:1900542 regulation of purine nucleotide metabolic process GO:1900544 positive regulation of purine nucleotide metabolic process GO:1901214 regulation of neuron death GO:1901216 positive regulation of neuron death GO:1901293 nucleoside phosphate biosynthetic process GO:1901342 regulation of vasculature development GO:1901343 negative regulation of vasculature development GO:1902041 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902043 positive regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902105 regulation of leukocyte differentiation GO:1902106 negative regulation of leukocyte differentiation GO:1902532 negative regulation of intracellular signal transduction GO:1902593 single-organism nuclear import GO:1902692 regulation of neuroblast proliferation GO:1903531 negative regulation of secretion by cell GO:1903533 regulation of protein targeting GO:1903706 regulation of hemopoiesis GO:1903707 negative regulation of hemopoiesis GO:1903828 negative regulation of cellular protein localization GO:1904589 regulation of protein import GO:1904590 negative regulation of protein import GO:1904950 negative regulation of establishment of protein localization GO:2000146 negative regulation of cell motility GO:2000177 regulation of neural precursor cell proliferation GO:2000178 negative regulation of neural precursor cell proliferation GO:2000181 negative regulation of blood vessel morphogenesis GO:2000647 negative regulation of stem cell proliferation GO:2001233 regulation of apoptotic signaling pathway GO:2001235 positive regulation of apoptotic signaling pathway GO:2001236 regulation of extrinsic apoptotic signaling pathway GO:2001238 positive regulation of extrinsic apoptotic signaling pathway GO:2001239 regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand |
Molecular Function |
GO:0005096 GTPase activator activity GO:0005543 phospholipid binding GO:0008047 enzyme activator activity GO:0008429 phosphatidylethanolamine binding GO:0030695 GTPase regulator activity GO:0031210 phosphatidylcholine binding GO:0060589 nucleoside-triphosphatase regulator activity GO:0070405 ammonium ion binding |
Cellular Component |
GO:0009898 cytoplasmic side of plasma membrane GO:0030424 axon GO:0030425 dendrite GO:0031235 intrinsic component of the cytoplasmic side of the plasma membrane GO:0098552 side of membrane GO:0098562 cytoplasmic side of membrane GO:0098793 presynapse |
KEGG |
hsa04010 MAPK signaling pathway hsa04014 Ras signaling pathway |
Reactome |
R-HSA-170984: ARMS-mediated activation R-HSA-422475: Axon guidance R-HSA-1280215: Cytokine Signaling in Immune system R-HSA-2172127: DAP12 interactions R-HSA-2424491: DAP12 signaling R-HSA-1266738: Developmental Biology R-HSA-1643685: Disease R-HSA-5663202: Diseases of signal transduction R-HSA-186763: Downstream signal transduction R-HSA-2871796: FCERI mediated MAPK activation R-HSA-2454202: Fc epsilon receptor (FCERI) signaling R-HSA-170968: Frs2-mediated activation R-HSA-179812: GRB2 events in EGFR signaling R-HSA-881907: Gastrin-CREB signalling pathway via PKC and MAPK R-HSA-2428924: IGF1R signaling cascade R-HSA-112399: IRS-mediated signalling R-HSA-2428928: IRS-related events triggered by IGF1R R-HSA-168256: Immune System R-HSA-168249: Innate Immune System R-HSA-74751: Insulin receptor signalling cascade R-HSA-912526: Interleukin receptor SHC signaling R-HSA-451927: Interleukin-2 signaling R-HSA-512988: Interleukin-3, 5 and GM-CSF signaling R-HSA-5683057: MAPK family signaling cascades R-HSA-5684996: MAPK1/MAPK3 signaling R-HSA-375165: NCAM signaling for neurite out-growth R-HSA-187037: NGF signalling via TRKA from the plasma membrane R-HSA-6802957: Oncogenic MAPK signaling R-HSA-8849471: PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases R-HSA-169893: Prolonged ERK activation events R-HSA-5673001: RAF/MAP kinase cascade R-HSA-6802953: RAS signaling downstream of NF1 loss-of-function variants R-HSA-8853659: RET signaling R-HSA-5658442: Regulation of RAS by GAPs R-HSA-180336: SHC1 events in EGFR signaling R-HSA-112412: SOS-mediated signalling R-HSA-162582: Signal Transduction R-HSA-177929: Signaling by EGFR R-HSA-372790: Signaling by GPCR R-HSA-74752: Signaling by Insulin receptor R-HSA-449147: Signaling by Interleukins R-HSA-2586552: Signaling by Leptin R-HSA-186797: Signaling by PDGF R-HSA-8848021: Signaling by PTK6 R-HSA-6802949: Signaling by RAS mutants R-HSA-1433557: Signaling by SCF-KIT R-HSA-2404192: Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) R-HSA-194138: Signaling by VEGF R-HSA-166520: Signalling by NGF R-HSA-187687: Signalling to ERKs R-HSA-167044: Signalling to RAS R-HSA-187706: Signalling to p38 via RIT and RIN R-HSA-4420097: VEGFA-VEGFR2 Pathway R-HSA-5218921: VEGFR2 mediated cell proliferation |
Summary | |
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Symbol | NF1 |
Name | neurofibromin 1 |
Aliases | neurofibromatosis; von Recklinghausen disease; Watson disease; NFNS; VRNF; neurofibromatosis-related protein ...... |
Chromosomal Location | 17q11.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Literatures that report relations between NF1 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells. |
There is no record. |
Summary | |
---|---|
Symbol | NF1 |
Name | neurofibromin 1 |
Aliases | neurofibromatosis; von Recklinghausen disease; Watson disease; NFNS; VRNF; neurofibromatosis-related protein ...... |
Chromosomal Location | 17q11.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets. |
> High-throughput Screening
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Statistical results of NF1 in screening data sets for detecting immune reponses.
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Summary | |
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Symbol | NF1 |
Name | neurofibromin 1 |
Aliases | neurofibromatosis; von Recklinghausen disease; Watson disease; NFNS; VRNF; neurofibromatosis-related protein ...... |
Chromosomal Location | 17q11.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets. > Expression difference between responders and non-responders > Mutation difference between responders and non-responders |
Points in the above scatter plot represent the expression difference of NF1 in various data sets.
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Points in the above scatter plot represent the mutation difference of NF1 in various data sets.
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Summary | |
---|---|
Symbol | NF1 |
Name | neurofibromin 1 |
Aliases | neurofibromatosis; von Recklinghausen disease; Watson disease; NFNS; VRNF; neurofibromatosis-related protein ...... |
Chromosomal Location | 17q11.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of NF1. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene. |
Summary | |
---|---|
Symbol | NF1 |
Name | neurofibromin 1 |
Aliases | neurofibromatosis; von Recklinghausen disease; Watson disease; NFNS; VRNF; neurofibromatosis-related protein ...... |
Chromosomal Location | 17q11.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of NF1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by NF1. > Immunoinhibitor > Immunostimulator > MHC molecule |
Summary | |
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Symbol | NF1 |
Name | neurofibromin 1 |
Aliases | neurofibromatosis; von Recklinghausen disease; Watson disease; NFNS; VRNF; neurofibromatosis-related protein ...... |
Chromosomal Location | 17q11.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of NF1. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene. > Chemokine > Receptor |
Summary | |
---|---|
Symbol | NF1 |
Name | neurofibromin 1 |
Aliases | neurofibromatosis; von Recklinghausen disease; Watson disease; NFNS; VRNF; neurofibromatosis-related protein ...... |
Chromosomal Location | 17q11.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Distribution of NF1 expression across immune and molecular subtypes. > Immune subtype > Molecular subtype |
Summary | |
---|---|
Symbol | NF1 |
Name | neurofibromin 1 |
Aliases | neurofibromatosis; von Recklinghausen disease; Watson disease; NFNS; VRNF; neurofibromatosis-related protein ...... |
Chromosomal Location | 17q11.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content |
Associations between NF1 and clinical features. > Overall survival analysis > Cancer stage > Tumor grade |
Summary | |
---|---|
Symbol | NF1 |
Name | neurofibromin 1 |
Aliases | neurofibromatosis; von Recklinghausen disease; Watson disease; NFNS; VRNF; neurofibromatosis-related protein ...... |
Chromosomal Location | 17q11.2 |
External Links | HGNC, NCBI, Ensembl, Uniprot, GeneCards |
Content | Drugs targeting NF1 collected from DrugBank database. |
There is no record. |