NF1
Gene Information
- Official Symbol: NF1
- Official Name: neurofibromin 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 4763
- UniProt: P21359
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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].
- UniProt Summary: Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. {ECO:0000269|PubMed:2121371, ECO:0000269|PubMed:8417346}.
Pfam Domains GO Terms
Pfam Domains
| RasGAP |
GO Terms
| gamma-aminobutyric acid secretion, neurotransmission |
| glutamate secretion, neurotransmission |
| forebrain astrocyte differentiation |
| forebrain astrocyte development |
| gamma-aminobutyric acid secretion |
| negative regulation of Rac protein signal transduction |
| amygdala development |
| negative regulation of neuroblast proliferation |
| hair follicle maturation |
| gamma-aminobutyric acid transport |
| observational learning |
| positive regulation of adenylate cyclase activity |
| phosphatidylethanolamine binding |
| positive regulation of extrinsic apoptotic signaling pathway in absence of ligand |
| forebrain morphogenesis |
| negative regulation of astrocyte differentiation |
| negative regulation of protein import into nucleus |
| negative regulation of neurotransmitter secretion |
| negative regulation of protein import |
| negative regulation of oligodendrocyte differentiation |
| negative regulation of stem cell proliferation |
| synaptic transmission, GABAergic |
| regulation of Rac protein signal transduction |
| smooth muscle tissue development |
| negative regulation of nucleocytoplasmic transport |
| sympathetic nervous system development |
| positive regulation of cyclase activity |
| positive regulation of lyase activity |
| negative regulation of neurotransmitter transport |
| negative regulation of neural precursor cell proliferation |
| adrenal gland development |
| negative regulation of glial cell differentiation |
| peripheral nervous system axon ensheathment |
| myelination in peripheral nervous system |
| regulation of astrocyte differentiation |
| regulation of long-term neuronal synaptic plasticity |
| negative regulation of osteoclast differentiation |
| regulation of adenylate cyclase activity |
| phosphatidylcholine binding |
| negative regulation of fibroblast proliferation |
| synaptic transmission, glutamatergic |
| negative regulation of protein localization to nucleus |
| glutamate secretion |
| Schwann cell development |
| regulation of synaptic transmission, GABAergic |
| regulation of neuroblast proliferation |
| phosphatidylinositol 3-kinase signaling |
| brain morphogenesis |
| extrinsic apoptotic signaling pathway via death domain receptors |
| Schwann cell differentiation |
| astrocyte development |
| negative regulation of endothelial cell proliferation |
| negative regulation of cell-matrix adhesion |
| regulation of oligodendrocyte differentiation |
| regulation of bone resorption |
| negative regulation of gliogenesis |
| negative regulation of intracellular protein transport |
| regulation of cyclase activity |
| regulation of long-term synaptic potentiation |
| regulation of lyase activity |
| autonomic nervous system development |
| negative regulation of myeloid leukocyte differentiation |
| regulation of extrinsic apoptotic signaling pathway in absence of ligand |
| collagen fibril organization |
| acidic amino acid transport |
| visual learning |
| regulation of bone remodeling |
| positive regulation of extrinsic apoptotic signaling pathway |
| negative regulation of Ras protein signal transduction |
| astrocyte differentiation |
| visual behavior |
| regulation of neuronal synaptic plasticity |
| positive regulation of neuron apoptotic process |
| regulation of protein import into nucleus |
| regulation of protein import |
| negative regulation of small GTPase mediated signal transduction |
| negative regulation of intracellular transport |
| negative regulation of synaptic transmission |
| artery morphogenesis |
| negative regulation of cell-substrate adhesion |
| regulation of osteoclast differentiation |
| regulation of stem cell proliferation |
| regulation of glial cell differentiation |
| cellular response to heat |
| hair follicle development |
| phosphatidylinositol-mediated signaling |
| regulation of tissue remodeling |
| peripheral nervous system development |
| skin epidermis development |
| molting cycle process |
| inositol lipid-mediated signaling |
| hair cycle process |
| negative regulation of MAP kinase activity |
| negative regulation of myeloid cell differentiation |
| associative learning |
| dicarboxylic acid transport |
| acid secretion |
| regulation of fibroblast proliferation |
| metanephros development |
| artery development |
| regulation of neural precursor cell proliferation |
| regulation of blood vessel endothelial cell migration |
| positive regulation of neuron death |
| molting cycle |
| hair cycle |
| pigmentation |
| positive regulation of endothelial cell proliferation |
| presynapse |
| extrinsic apoptotic signaling pathway |
| negative regulation of leukocyte differentiation |
| signal release from synapse |
| neurotransmitter secretion |
| negative regulation of angiogenesis |
| regulation of neurotransmitter secretion |
| negative regulation of blood vessel morphogenesis |
| myelination |
| regulation of nucleocytoplasmic transport |
| spinal cord development |
| glial cell development |
| axon ensheathment |
| ensheathment of neurons |
| limbic system development |
| response to heat |
| negative regulation of cellular protein localization |
| camera-type eye morphogenesis |
| regulation of cell-matrix adhesion |
| regulation of gliogenesis |
| regulation of myeloid leukocyte differentiation |
| negative regulation of vasculature development |
| cerebral cortex development |
| regulation of protein localization to nucleus |
| amino acid transport |
| endocrine system development |
| skeletal muscle tissue development |
| negative regulation of epithelial cell proliferation |
| liver development |
| osteoblast differentiation |
| regulation of endothelial cell proliferation |
| hepaticobiliary system development |
| skeletal muscle organ development |
| negative regulation of protein serine/threonine kinase activity |
| anatomical structure maturation |
| monocarboxylic acid transport |
| negative regulation of hemopoiesis |
| regulation of neurotransmitter transport |
| learning |
| eye morphogenesis |
| regulation of extrinsic apoptotic signaling pathway |
| regulation of endothelial cell migration |
| neural tube development |
| negative regulation of MAPK cascade |
| signal release |
| glial cell differentiation |
| pallium development |
| positive regulation of apoptotic signaling pathway |
| response to temperature stimulus |
| neurotransmitter transport |
| negative regulation of protein transport |
| negative regulation of establishment of protein localization |
| positive regulation of epithelial cell proliferation |
| regulation of synaptic plasticity |
| negative regulation of secretion by cell |
| regulation of neuron apoptotic process |
| regulation of cell-substrate adhesion |
| gliogenesis |
| regulation of epithelial cell migration |
| regulation of myeloid cell differentiation |
| negative regulation of protein kinase activity |
| regulation of intracellular protein transport |
| negative regulation of secretion |
| developmental maturation |
| regulation of Ras protein signal transduction |
| negative regulation of kinase activity |
| Ras protein signal transduction |
| sensory organ morphogenesis |
| telencephalon development |
| negative regulation of cell migration |
| learning or memory |
| ossification |
| kidney development |
| negative regulation of cell adhesion |
| regulation of leukocyte differentiation |
| negative regulation of cell motility |
| negative regulation of transferase activity |
| GTPase activator activity |
| apoptotic signaling pathway |
| striated muscle tissue development |
| renal system development |
| regulation of angiogenesis |
| negative regulation of neurogenesis |
| carboxylic acid transport |
| organic acid transport |
| axon |
| muscle organ development |
| muscle tissue development |
| cognition |
| response to light stimulus |
| negative regulation of cellular component movement |
| regulation of neuron death |
| negative regulation of nervous system development |
| camera-type eye development |
| urogenital system development |
| small GTPase mediated signal transduction |
| regulation of vasculature development |
| negative regulation of locomotion |
| regulation of epithelial cell proliferation |
| negative regulation of cell development |
| extracellular matrix organization |
| regulation of MAP kinase activity |
| response to hypoxia |
| regulation of small GTPase mediated signal transduction |
| regulation of intracellular transport |
| regulation of neurotransmitter levels |
| response to decreased oxygen levels |
| eye development |
| visual system development |
| sensory system development |
| MAPK cascade |
| response to oxygen levels |
| skin development |
| extracellular structure organization |
| forebrain development |
| signal transduction by protein phosphorylation |
| regulation of apoptotic signaling pathway |
| negative regulation of protein phosphorylation |
| blood vessel morphogenesis |
| gland development |
| positive regulation of GTPase activity |
| epidermis development |
| anterograde trans-synaptic signaling |
| dendrite |
| chemical synaptic transmission |
| trans-synaptic signaling |
| response to radiation |
| negative regulation of immune system process |
| modulation of chemical synaptic transmission |
| regulation of trans-synaptic signaling |
| negative regulation of phosphorylation |
| regulation of hemopoiesis |
| supramolecular fiber organization |
| organic anion transport |
| synaptic signaling |
| muscle structure development |
| wound healing |
| regulation of GTPase activity |
| negative regulation of transport |
| blood vessel development |
| actin cytoskeleton organization |
| negative regulation of intracellular signal transduction |
| vasculature development |
| regulation of protein serine/threonine kinase activity |
| cardiovascular system development |
| heart development |
| regulation of cellular protein localization |
| sensory organ development |
| negative regulation of phosphate metabolic process |
| negative regulation of phosphorus metabolic process |
| actin filament-based process |
| response to wounding |
| behavior |
| anion transport |
| negative regulation of protein modification process |
| chordate embryonic development |
| positive regulation of apoptotic process |
| positive regulation of programmed cell death |
| embryo development ending in birth or egg hatching |
| tube morphogenesis |
| negative regulation of cell population proliferation |
| regulation of cell adhesion |
| positive regulation of cell death |
| regulation of protein transport |
| negative regulation of cell differentiation |
| regulation of peptide transport |
| brain development |
| regulation of establishment of protein localization |
| regulation of secretion by cell |
| regulation of MAPK cascade |
| positive regulation of hydrolase activity |
| head development |
| negative regulation of catalytic activity |
| regulation of protein kinase activity |
| regulation of secretion |
| regulation of neurogenesis |
| tube development |
| regulation of cell migration |
| nucleolus |
| circulatory system development |
| regulation of kinase activity |
| regulation of cell motility |
| positive regulation of cell population proliferation |
| regulation of cellular localization |
| apoptotic process |
| regulation of nervous system development |
| regulation of cell development |
| negative regulation of developmental process |
| animal organ morphogenesis |
| protein phosphorylation |
| embryo development |
| regulation of transferase activity |
| central nervous system development |
| regulation of locomotion |
| regulation of cellular component movement |
| secretion by cell |
| regulation of protein localization |
| negative regulation of cellular protein metabolic process |
| export from cell |
| programmed cell death |
| regulation of anatomical structure morphogenesis |
| cell death |
| negative regulation of protein metabolic process |
| cytoskeleton organization |
| epithelium development |
| cell-cell signaling |
| secretion |
| negative regulation of molecular function |
| response to abiotic stimulus |
| negative regulation of multicellular organismal process |
| negative regulation of signal transduction |
| regulation of hydrolase activity |
| phosphorylation |
| negative regulation of cell communication |
| negative regulation of signaling |
| ion transport |
| nervous system process |
| positive regulation of catalytic activity |
| regulation of protein phosphorylation |
| generation of neurons |
| regulation of apoptotic process |
| regulation of programmed cell death |
| regulation of phosphorylation |
| regulation of cell population proliferation |
| negative regulation of response to stimulus |
| neurogenesis |
| cell development |
| regulation of immune system process |
| positive regulation of signal transduction |
| regulation of cell death |
| intracellular signal transduction |
| cellular response to stress |
| tissue development |
| positive regulation of molecular function |
| regulation of phosphate metabolic process |
| regulation of phosphorus metabolic process |
| regulation of cell differentiation |
| positive regulation of cell communication |
| positive regulation of signaling |
| regulation of intracellular signal transduction |
| establishment of localization in cell |
| nitrogen compound transport |
| regulation of protein modification process |
| protein-containing complex subunit organization |
| regulation of transport |
| system process |
| membrane |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 0/739
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 0/28 |
| blood | 0/28 |
| bone | 0/26 |
| breast | 0/33 |
| central nervous system | 0/56 |
| cervix | 0/4 |
| colorectal | 0/17 |
| esophagus | 0/13 |
| fibroblast | 0/1 |
| gastric | 0/16 |
| kidney | 0/21 |
| liver | 0/20 |
| lung | 0/75 |
| lymphocyte | 0/16 |
| ovary | 0/26 |
| pancreas | 0/24 |
| peripheral nervous system | 0/16 |
| plasma cell | 0/15 |
| prostate | 0/1 |
| skin | 0/24 |
| soft tissue | 0/9 |
| thyroid | 0/2 |
| upper aerodigestive | 0/22 |
| urinary tract | 0/29 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 3669
- Expression level (log2 read counts): 6.71
Expression Distribution
NF1 Expression in NALM6 Cells: 6.71
