NF1

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]

Neurofibromin 1

Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.

Actin cytoskeleton organization Source: HGNC-UCL
Adrenal gland development Source: HGNC-UCL
Amygdala development Source: Ensembl
Artery morphogenesis Source: HGNC-UCL
Brain development Source: HGNC-UCL
Camera-type eye morphogenesis Source: HGNC-UCL
Cell communication Source: HGNC-UCL
Cellular response to heat Source: Ensembl
Cerebral cortex development Source: HGNC-UCL
Cognition Source: HGNC-UCL
Collagen fibril organization Source: HGNC-UCL
Extracellular matrix organization Source: HGNC-UCL
Extrinsic apoptotic signaling pathway via death domain receptors Source: Ensembl
Forebrain astrocyte development Source: HGNC-UCL
Forebrain morphogenesis Source: HGNC-UCL
Gamma-aminobutyric acid secretion, neurotransmission Source: Ensembl
Glutamate secretion, neurotransmission Source: Ensembl
Hair follicle maturation Source: Ensembl
Heart development Source: HGNC-UCL
Liver development Source: HGNC-UCL
MAPK cascade Source: HGNC-UCL
Metanephros development Source: HGNC-UCL
Myelination in peripheral nervous system Source: HGNC-UCL
Negative regulation of angiogenesis Source: Ensembl
Negative regulation of astrocyte differentiation Source: Ensembl
Negative regulation of cell-matrix adhesion Source: Ensembl
Negative regulation of cell migration Source: MGI
Negative regulation of endothelial cell proliferation Source: HGNC-UCL
Negative regulation of fibroblast proliferation Source: UniProtKB
Negative regulation of MAPK cascade Source: MGI
Negative regulation of MAP kinase activity Source: HGNC-UCL
Negative regulation of neuroblast proliferation Source: HGNC-UCL
Negative regulation of neurotransmitter secretion Source: Ensembl
Negative regulation of oligodendrocyte differentiation Source: HGNC-UCL
Negative regulation of osteoclast differentiation Source: Ensembl
Negative regulation of protein import into nucleus Source: Ensembl
Negative regulation of protein kinase activity Source: HGNC-UCL
Negative regulation of Rac protein signal transduction Source: Ensembl
Neural tube development Source: Ensembl
Observational learning Source: Ensembl
Osteoblast differentiation Source: HGNC-UCL
Peripheral nervous system development Source: HGNC-UCL
Phosphatidylinositol 3-kinase signaling Source: HGNC-UCL
Pigmentation Source: HGNC-UCL
Positive regulation of adenylate cyclase activity Source: HGNC-UCL
Positive regulation of apoptotic process Source: HGNC-UCL
Positive regulation of endothelial cell proliferation Source: Ensembl
Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand Source: Ensembl
Positive regulation of GTPase activity Source: UniProtKB
Positive regulation of neuron apoptotic process Source: HGNC-UCL
Ras protein signal transduction Source: HGNC-UCL
Regulation of angiogenesis Source: HGNC-UCL
Regulation of blood vessel endothelial cell migration Source: HGNC-UCL
Regulation of bone resorption Source: HGNC-UCL
Regulation of cell-matrix adhesion Source: HGNC-UCL
Regulation of gene expression Source: Ensembl
Regulation of glial cell differentiation Source: HGNC-UCL
Regulation of GTPase activity Source: HGNC-UCL
Regulation of long-term neuronal synaptic plasticity Source: Ensembl
Regulation of long-term synaptic potentiation Source: Ensembl
Regulation of synaptic transmission, GABAergic Source: Ensembl
Response to hypoxia Source: HGNC-UCL
Schwann cell development Source: HGNC-UCL
Skeletal muscle tissue development Source: Ensembl
Smooth muscle tissue development Source: HGNC-UCL
Spinal cord development Source: HGNC-UCL
Sympathetic nervous system development Source: HGNC-UCL
Visual learning Source: HGNC-UCL
Wound healing Source: HGNC-UCL

Nucleus
nucleolus

Neurofibromatosis 1 (NF1):
A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors.
Leukemia, juvenile myelomonocytic (JMML):
An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.
Watson syndrome (WTSN):
A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis.
Familial spinal neurofibromatosis (FSNF):
Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors.
Neurofibromatosis-Noonan syndrome (NFNS):
Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis.
Colorectal cancer (CRC):
A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.