AutismKB 2.0

Annotation Details for NF1


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Basic Information Top
Gene Symbol:NF1 ( DKFZp686J1293,FLJ21220,NFNS,VRNF,WSS )
Gene Full Name: neurofibromin 1
Band: 17q11.2
Quick LinksEntrez ID:4763; OMIM: 613113; Uniprot ID:NF1_HUMAN; ENSEMBL ID: ENSG00000196712; HGNC ID: 7765
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634ISS-nucleus1550670
GO:0005730IEA-nucleolus-
GO:0005737IBA-cytoplasm-
GO:0005737ISS-cytoplasm1550670
GO:0005829TAS-cytosol-
GO:0016020IDA-membrane19946888
GO:0030424IDA-axon1550670
GO:0030425IDA-dendrite1550670
GO:0031235IBA-intrinsic component of the cytoplasmic side of the plasma membrane-
GO:0098793IEA-presynapse-
GO ID Evidence Qualifier GO_term References
GO:0005096IDA-GTPase activator activity1568247
GO:0005515IPI-protein binding11356864
GO:0008429IDA-phosphatidylethanolamine binding17187824
GO:0031210IDA-phosphatidylcholine binding17187824
GO ID Evidence Qualifier GO_term References
GO:0000165ISS-MAPK cascade-
GO:0000165TAS-MAPK cascade-
GO:0001649ISS-osteoblast differentiation-
GO:0001656ISS-metanephros development-
GO:0001666ISS-response to hypoxia-
GO:0001889ISS-liver development-
GO:0001937IMP-negative regulation of endothelial cell proliferation16648142
GO:0001938IEA-positive regulation of endothelial cell proliferation-
GO:0001952ISS-regulation of cell-matrix adhesion-
GO:0001953IEA-negative regulation of cell-matrix adhesion-
GO:0006469ISS-negative regulation of protein kinase activity-
GO:0007154ISS-cell communication-
GO:0007265ISS-Ras protein signal transduction-
GO:0007406ISS-negative regulation of neuroblast proliferation-
GO:0007420ISS-brain development-
GO:0007422ISS-peripheral nervous system development-
GO:0007507ISS-heart development-
GO:0007519IEA-skeletal muscle tissue development-
GO:0008542ISS-visual learning-
GO:0008625IEA-extrinsic apoptotic signaling pathway via death domain receptors-
GO:0010468IEA-regulation of gene expression-
GO:0014044ISS-Schwann cell development-
GO:0014065ISS-phosphatidylinositol 3-kinase signaling-
GO:0016525IEA-negative regulation of angiogenesis-
GO:0021510ISS-spinal cord development-
GO:0021764IEA-amygdala development-
GO:0021897ISS-forebrain astrocyte development-
GO:0021915IEA-neural tube development-
GO:0021987ISS-cerebral cortex development-
GO:0022011ISS-myelination in peripheral nervous system-
GO:0030036ISS-actin cytoskeleton organization-
GO:0030198ISS-extracellular matrix organization-
GO:0030199ISS-collagen fibril organization-
GO:0030325ISS-adrenal gland development-
GO:0030336IMP-negative regulation of cell migration16648142
GO:0032228IEA-regulation of synaptic transmission, GABAergic-
GO:0034605IEA-cellular response to heat-
GO:0035021IEA-negative regulation of Rac protein signal transduction-
GO:0042060ISS-wound healing-
GO:0042992ISS-negative regulation of transcription factor import into nucleus-
GO:0043065ISS-positive regulation of apoptotic process-
GO:0043087IMP-regulation of GTPase activity1570015
GO:0043407ISS-negative regulation of MAP kinase activity-
GO:0043409IMP-negative regulation of MAPK cascade16648142
GO:0043409ISS-negative regulation of MAPK cascade-
GO:0043473ISS-pigmentation-
GO:0043525ISS-positive regulation of neuron apoptotic process-
GO:0043535IMP-regulation of blood vessel endothelial cell migration17404841
GO:0043547IDA-positive regulation of GTPase activity2121371
GO:0043547IMP-positive regulation of GTPase activity16648142
GO:0043547ISS-positive regulation of GTPase activity-
GO:0045124ISS-regulation of bone resorption-
GO:0045671IEA-negative regulation of osteoclast differentiation-
GO:0045685ISS-regulation of glial cell differentiation-
GO:0045762ISS-positive regulation of adenylate cyclase activity-
GO:0045765IMP-regulation of angiogenesis17404841
GO:0046580IBA-negative regulation of Ras protein signal transduction-
GO:0046929IEA-negative regulation of neurotransmitter secretion-
GO:0048147ISS-negative regulation of fibroblast proliferation-
GO:0048169IEA-regulation of long-term neuronal synaptic plasticity-
GO:0048485ISS-sympathetic nervous system development-
GO:0048593ISS-camera-type eye morphogenesis-
GO:0048712IEA-negative regulation of astrocyte differentiation-
GO:0048715ISS-negative regulation of oligodendrocyte differentiation-
GO:0048745ISS-smooth muscle tissue development-
GO:0048820IEA-hair follicle maturation-
GO:0048844ISS-artery morphogenesis-
GO:0048853ISS-forebrain morphogenesis-
GO:0050890IMP-cognition17299016
GO:0061534IEA-gamma-aminobutyric acid secretion, neurotransmission-
GO:0061535IEA-glutamate secretion, neurotransmission-
GO:0098597IEA-observational learning-
GO:1900271IEA-regulation of long-term synaptic potentiation-
GO:1902043IEA-positive regulation of extrinsic apoptotic signaling pathway via death domain receptors-
GO:2001241IEA-positive regulation of extrinsic apoptotic signaling pathway in absence of ligand-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
NF1HRAS1095018628317 Two-hybrid
NF1HRAS1108368628317 Two-hybrid
NF1SMAD211026218215124 Reconstituted Complex
NF1SMAD211083618215124 Reconstituted Complex
NF1SMAD311026318215124 Reconstituted Complex
NF1SMAD311083618215124 Reconstituted Complex
NF1SMAD411026418215124 Affinity Capture-Western; Reconstituted Complex
NF1SMAD411083618215124 Affinity Capture-Western; Reconstituted Complex
NF1MYOG1107391329097 Reconstituted Complex
NF1MYOG1108361329097 Reconstituted Complex
POLR2ANF111142615999204 Affinity Capture-Western
POLR2ANF111083615999204 Affinity Capture-Western
SMARCA4NF111248115999204 Affinity Capture-Western
SMARCA4NF111083615999204 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:97306
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-030131-4907'