Gene Cluster: NF1

Organism: Homo sapiens

Synonymous: DKFZp686J1293|NFNS|VRNF|WSS

neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)

Link to Entrez Gene

Map: 17q11.2

GO:0001649 osteoblast differentiation
GO:0001656 metanephros development
GO:0001666 response to hypoxia
GO:0001889 liver development
GO:0001937 negative regulation of endothelial cell proliferation
GO:0001952 regulation of cell-matrix adhesion
GO:0003674 molecular_function
GO:0005096 GTPase activator activity
GO:0005099 Ras GTPase activator activity
GO:0005515 protein binding
GO:0005575 cellular_component
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0007165 signal transduction
GO:0007265 Ras protein signal transduction
GO:0007406 negative regulation of neuroblast proliferation
GO:0007420 brain development
GO:0007422 peripheral nervous system development
GO:0007507 heart development
GO:0008150 biological_process
GO:0008542 visual learning
GO:0014065 phosphoinositide 3-kinase cascade
GO:0021510 spinal cord development
GO:0021897 forebrain astrocyte development
GO:0021987 cerebral cortex development
GO:0022011 myelination in the peripheral nervous system
GO:0030036 actin cytoskeleton organization
GO:0030199 collagen fibril organization
GO:0030325 adrenal gland development
GO:0030336 negative regulation of cell migration
GO:0030424 axon
GO:0030425 dendrite
GO:0032320 positive regulation of Ras GTPase activity
GO:0042060 wound healing
GO:0042992 negative regulation of transcription factor import into nucleus
GO:0043407 negative regulation of MAP kinase activity
GO:0043409 negative regulation of MAPKKK cascade
GO:0043473 pigmentation
GO:0043525 positive regulation of neuron apoptosis
GO:0043535 regulation of blood vessel endothelial cell migration
GO:0045124 regulation of bone resorption
GO:0045685 regulation of glial cell differentiation
GO:0045762 positive regulation of adenylate cyclase activity
GO:0045765 regulation of angiogenesis
GO:0045786 negative regulation of cell cycle
GO:0048485 sympathetic nervous system development
GO:0048593 camera-type eye morphogenesis
GO:0048715 negative regulation of oligodendrocyte differentiation
GO:0048745 smooth muscle development
GO:0048844 artery morphogenesis
GO:0048853 forebrain morphogenesis
GO:0050890 cognition
GO:0051056 regulation of small GTPase mediated signal transduction

Reference Sequence: NM_000267.1

8959bp CDS 212..8668

Homologous cDNA sequence in the JCRB Genebank

NF1 (5:5'UTR, C:CDS, 3:3'UTR, N:Unknown)