NF1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | NF1 |
| Official Name | neurofibromin 1 [Source:HGNC Symbol;Acc:HGNC:7765] |
| Ensembl ID | ENSG00000196712 |
| Bio databases IDs | |
| Aliases | neurofibromin 1, neurofibromatosis, von Recklinghausen disease, Watson disease |
| Synonyms | Dsk9, E030030H24RIK, LOC646021, Mhdadsk9, Neurofibromatosis 1, NEUROFIBROMIN, neurofibromin 1, NF1-GAP, NFNS, VRNF, WSS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain in homologues of a S
- phospholipid binding
- catalytic domain
- phosphatidylethanolamine binding
- GTPase activating domain
- GTPase activator
- protein binding
- Pleckstrin homology-like domain
- syndecan binding
- PPQY motif
- Ras GTPase Activating Domain
- microtubule binding
- GTPase-activator protein for Ras-like GTPases
- binding protein
- Divergent CRAL/TRIO domain
- GTPase-activator protein for Ras-like GTPase
Pathways
Biological processes and signaling networks where the NF1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- neoplasia
- tumorigenesis
- myelodysplastic syndrome
- cancer
- hyperplasia
- precursor B-cell acute lymphoblastic leukemia
- psoriasis
- colorectal carcinomagenesis
- epithelial cancer
role in cell
- proliferation
- activation in
- phosphorylation in
- expression in
- growth
- cell death
- signaling in
- apoptosis
- migration
- colony formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- nuclear fraction
- soluble fraction
- membrane fraction
- glutaminergic synapse
- cytoskeleton
- Nucleus
- Plasma Membrane
- cytosol
- nucleoplasm
- neurites
- synapse
- neurite branches
- cytoplasmic vesicles
- perikaryon
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural tube development
- Rac protein signal transduction
- negative regulation of angiogenesis
- Schwann cell migration
- regulation of angiogenesis
- negative regulation of astrocyte differentiation
- visual learning
- regulation of glial cell differentiation
- regulation of bone resorption
- positive regulation of adenylate cyclase activity
- induction of apoptosis via death domain receptors
- positive regulation of GTPase activity
- negative regulation of oligodendrocyte differentiation
- spinal cord development
- sympathetic nervous system development
- wound healing
- neuroblast proliferation
- myelination in peripheral nervous system
- negative regulation of Ras protein signal transduction
- response to hypoxia
- negative regulation of neuroblast proliferation
- regulation of long-term neuronal synaptic plasticity
- pigmentation
- long-term synaptic potentiation
- neuron apoptotic process
- negative regulation of protein import into nucleus
- peripheral nervous system development
- artery morphogenesis
- negative regulation of Schwann cell migration
- Ras protein signal transduction
- cerebral cortex development
- brain development
- negative regulation of leukocyte migration
- regulation of cell-matrix adhesion
- negative regulation of cell-matrix adhesion
- negative regulation of Schwann cell proliferation
- negative regulation of stem cell proliferation
- protein import into nucleus
- regulation of GTPase activity
- regulation of gene expression
- negative regulation of cell migration
- negative regulation of MAP kinase activity
- regulation of long-term synaptic potentiation
- Schwann cell development
- cell communication
- negative regulation of MAPK cascade
- negative regulation of Rac protein signal transduction
- forebrain astrocyte development
- extrinsic apoptotic signaling pathway in absence of ligand
- forebrain morphogenesis
- negative regulation of protein kinase activity
- positive regulation of neuron apoptotic process
- fibroblast proliferation
- MAPK cascade
- heart development
- protein kinase B signaling cascade
- cellular response to heat
- cognition
- angiogenesis
- mast cell proliferation
- negative regulation of fibroblast proliferation
- liver development
- negative regulation of osteoclast differentiation
- stem cell proliferation
- osteoblast differentiation
- regulation of synaptic transmission, GABAergic
- adrenal gland development
- negative regulation of mast cell proliferation
- oligodendrocyte differentiation
- positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
- Schwann cell proliferation
- negative regulation of neurotransmitter secretion
- amygdala development
- smooth muscle tissue development
- hair follicle maturation
- regulation of blood vessel endothelial cell migration
- osteoclast differentiation
- regulation of ERK1 and ERK2 cascade
- camera-type eye morphogenesis
- metanephros development
- skeletal muscle tissue development
- positive regulation of apoptotic process
- extracellular matrix organization
- endothelial cell proliferation
- positive regulation of mast cell apoptotic process
- negative regulation of endothelial cell proliferation
- positive regulation of endothelial cell proliferation
- collagen fibril organization
- mast cell apoptotic process
- actin cytoskeleton organization
Cellular Component
Where in the cell the gene product is active
- nucleus
- dendrite
- cytoplasm
- membrane
- cytosol
- nucleolus
- plasma membrane
- axon
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- phosphatidylethanolamine binding
- protein binding
- GTPase activator activity
- phosphatidylcholine binding