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    NF1 neurofibromin 1 [ Homo sapiens (human) ]

    Gene ID: 4763, updated on 13-Aug-2016
    Official Symbol
    NF1provided by HGNC
    Official Full Name
    neurofibromin 1provided by HGNC
    Primary source
    HGNC:HGNC:7765
    See related
    Ensembl:ENSG00000196712 HPRD:01203; MIM:613113; Vega:OTTHUMG00000132871
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WSS; NFNS; VRNF
    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]
    Orthologs
    Location:
    17q11.2
    Exon count:
    62
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (31094927..31377677)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (29421945..29704695)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371722 Neighboring gene microRNA 4733 Neighboring gene uncharacterized LOC101927057 Neighboring gene ecotropic viral integration site 2B Neighboring gene oligodendrocyte myelin glycoprotein Neighboring gene ecotropic viral integration site 2A Neighboring gene adenylate kinase 4 pseudogene 1 Neighboring gene RAB11 family interacting protein 4 Neighboring gene uncharacterized LOC105371725 Neighboring gene RNA, 7SL, cytoplasmic 79, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Cafe-au-lait macules with pulmonary stenosis
    MedGen: C0553586 OMIM: 193520 GeneReviews: Not available
    Compare labs
    Juvenile myelomonocytic leukemia
    MedGen: C0349639 OMIM: 607785 GeneReviews: Not available
    Compare labs
    Neurofibromatosis, familial spinal
    MedGen: C1834235 OMIM: 162210 GeneReviews: Not available
    Compare labs
    Neurofibromatosis, type 1
    MedGen: C0027831 OMIM: 162200 GeneReviews: Neurofibromatosis 1
    Compare labs
    Neurofibromatosis-Noonan syndrome
    MedGen: C2931482 OMIM: 601321 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-07-12)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-12)

    ClinGen Genome Curation PagePubMed
    • ARMS-mediated activation, organism-specific biosystem (from REACTOME)
      ARMS-mediated activation, organism-specific biosystemARMS (Ankyrin-Rich Membrane Spanning/Kidins 220) is a 220kD tetraspanning adaptor protein which becomes rapidly tyrosine phosphorylated by active Trk receptors. ARMS is another adaptor protein which ...
    • ATF-2 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      ATF-2 transcription factor network, organism-specific biosystem
      ATF-2 transcription factor network
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • DAP12 interactions, organism-specific biosystem (from REACTOME)
      DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
    • DAP12 signaling, organism-specific biosystem (from REACTOME)
      DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Downstream signal transduction, organism-specific biosystem (from REACTOME)
      Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
    • Downstream signaling of activated FGFR1, organism-specific biosystem (from REACTOME)
      Downstream signaling of activated FGFR1, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
    • Downstream signaling of activated FGFR2, organism-specific biosystem (from REACTOME)
      Downstream signaling of activated FGFR2, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
    • Downstream signaling of activated FGFR3, organism-specific biosystem (from REACTOME)
      Downstream signaling of activated FGFR3, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
    • Downstream signaling of activated FGFR4, organism-specific biosystem (from REACTOME)
      Downstream signaling of activated FGFR4, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
    • FCERI mediated MAPK activation, organism-specific biosystem (from REACTOME)
      FCERI mediated MAPK activation, organism-specific biosystemFormation of the LAT signaling complex leads to activation of MAPK and production of cytokines. The sequence of events that leads from LAT to cytokine production has not been as clearly defined as th...
    • FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem (from Pathway Interaction Database)
      FOXA2 and FOXA3 transcription factor networks, organism-specific biosystem
      FOXA2 and FOXA3 transcription factor networks
    • FRS-mediated FGFR1 signaling, organism-specific biosystem (from REACTOME)
      FRS-mediated FGFR1 signaling, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2 (also known as FRS2 alpha) and FRS3 (also known as FRS2beta or SNT-2). Activation of FGFR tyrosine kinase allows FRS proteins to ...
    • FRS-mediated FGFR2 signaling, organism-specific biosystem (from REACTOME)
      FRS-mediated FGFR2 signaling, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2 (also known as FRS2 alpha) and FRS3 (also known as FRS2beta or SNT-2). Activation of FGFR tyrosine kinase allows FRS proteins to ...
    • FRS-mediated FGFR3 signaling, organism-specific biosystem (from REACTOME)
      FRS-mediated FGFR3 signaling, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2 (also known as FRS2 alpha) and FRS3 (also known as FRS2beta or SNT-2). Activation of FGFR tyrosine kinase allows FRS proteins to ...
    • FRS-mediated FGFR4 signaling, organism-specific biosystem (from REACTOME)
      FRS-mediated FGFR4 signaling, organism-specific biosystemThe FRS family of scaffolding adaptor proteins has two members, FRS2 (also known as FRS2 alpha) and FRS3 (also known as FRS2beta or SNT-2). Activation of FGFR tyrosine kinase allows FRS proteins to ...
    • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
      Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
    • Frs2-mediated activation, organism-specific biosystem (from REACTOME)
      Frs2-mediated activation, organism-specific biosystemThe adaptor protein Frs2 (Fibroblast growth factor receptor substrate 2) can mediate the prolonged activation of the MAPK (ERK) cascade.
    • GRB2 events in EGFR signaling, organism-specific biosystem (from REACTOME)
      GRB2 events in EGFR signaling, organism-specific biosystemAutophosphorylated EGFR tyrosine residues are docking sites for many downstream effectors in EGFR signaling. The adaptor protein GRB2 binds to phosphotyrosine residues in the C-tail of EGFR through i...
    • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
      Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
    • IGF1R signaling cascade, organism-specific biosystem (from REACTOME)
      IGF1R signaling cascade, organism-specific biosystemAfter autophosphorylation the type 1 insulin-like growth factor receptor (IGF1R) binds and phosphorylates scaffold proteins, IRS1/2/4 and SHC1, which in turn bind effectors possessing enzymatic activ...
    • IRS-mediated signalling, organism-specific biosystem (from REACTOME)
      IRS-mediated signalling, organism-specific biosystemRelease of phospho-IRS from the insulin receptor triggers a cascade of signalling events via PI3K, SOS, RAF and the MAP kinases.
    • IRS-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
      IRS-related events triggered by IGF1R, organism-specific biosystemThe phosphorylated type 1 insulin-like growth factor receptor phosphorylates IR1, IRS2, IRS4 and possibly other IRS/DOK family members (reviewed in Pavelic et al. 2007, Chitnis et al. 2008, Maki et a...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Insulin receptor signalling cascade, organism-specific biosystem (from REACTOME)
      Insulin receptor signalling cascade, organism-specific biosystemAutophosphorylation of the insulin receptor triggers a series of signalling events, mediated by SHC or IRS, and resulting in activation of the Ras/RAF and MAP kinase cascades. A second effect of the ...
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Interleukin receptor SHC signaling, organism-specific biosystem (from REACTOME)
      Interleukin receptor SHC signaling, organism-specific biosystemPhosphorylation of Shc at three tyrosine residues, 239, 240 (Gotoh et al. 1996) and 317 (Salcini et al. 1994) involves unidentified tyrosine kinases presumed to be part of the activated receptor comp...
    • Interleukin-2 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-2 signaling, organism-specific biosystemInterleukin-2 (IL-2) is a cytokine that is produced by T cells in response to antigen stimulation. Originally, IL-2 was discovered because of its potent growth factor activity on activated T cells in...
    • Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystem (from REACTOME)
      Interleukin-3, 5 and GM-CSF signaling, organism-specific biosystemThe Interleukin-3 (IL-3), IL-5 and Granulocyte-macrophage colony stimulating factor (GM-CSF) receptors form a family of heterodimeric receptors that have specific alpha chains but share a common beta...
    • MAPK family signaling cascades, organism-specific biosystem (from REACTOME)
      MAPK family signaling cascades, organism-specific biosystemThe mitogen activated protein kinases (MAPKs) are a family of conserved protein serine threonine kinases that respond to varied extracellular stimuli to activate intracellular processes including gen...
    • MAPK signaling pathway, organism-specific biosystem (from WikiPathways)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK1/MAPK3 signaling, organism-specific biosystem (from REACTOME)
      MAPK1/MAPK3 signaling, organism-specific biosystemThe extracellular signal regulated kinases (ERKs) 1 and 2, also known as MAPK3 and MAPK1, are phosphorylated by the MAP2Ks 1 and 2 in response to a wide range of extracellular stimuli to promote diff...
    • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
      NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
    • NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
      NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
    • PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases, organism-specific biosystem (from REACTOME)
      PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases, organism-specific biosystemPTK6 promotes cell motility and migration by regulating the activity of RHO GTPases RAC1 (Chen et al. 2004) and RHOA (Shen et al. 2008). PTK6 inhibits RAS GTPase activating protein RASA1 (Shen et al....
    • Prolonged ERK activation events, organism-specific biosystem (from REACTOME)
      Prolonged ERK activation events, organism-specific biosystemAfter NGF binding, activated Trk receptors provide multiple docking sites for adaptor proteins and enzymes. Two docking proteins, the Ankyrin-Rich Membrane Spanning protein (ARMS/Kidins220) and Fibro...
    • RAF/MAP kinase cascade, organism-specific biosystem (from REACTOME)
      RAF/MAP kinase cascade, organism-specific biosystemThe RAS-RAF-MEK-ERK pathway regulates processes such as proliferation, differentiation, survival, senescence and cell motility in response to growth factors, hormones and cytokines, among others. Bin...
    • Ras signaling pathway, organism-specific biosystem (from KEGG)
      Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
    • Regulation of RAS by GAPs, organism-specific biosystem (from REACTOME)
      Regulation of RAS by GAPs, organism-specific biosystemThe intrinsic GTPase activity of RAS proteins is stimulated by the GAP proteins, of which there are at least 10 in the human genome (reviewed in King et al, 2013).
    • SHC1 events in EGFR signaling, organism-specific biosystem (from REACTOME)
      SHC1 events in EGFR signaling, organism-specific biosystemGRB2 can bind EGFR directly or through another SH2-containing protein, SHC1. This association leads to RAS activation.
    • SHC1 events in ERBB4 signaling, organism-specific biosystem (from REACTOME)
      SHC1 events in ERBB4 signaling, organism-specific biosystemAll splicing isoforms of ERBB4 possess two tyrosine residues in the C-tail that serve as docking sites for SHC1 (Kaushansky et al. 2008, Pinkas-Kramarski et al. 1996, Cohen et al. 1996). Once bound t...
    • SOS-mediated signalling, organism-specific biosystem (from REACTOME)
      SOS-mediated signalling, organism-specific biosystemSOS is recruited to the plasma membrane and mediates activation of Ras.
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
      Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
    • Signaling by EGFR, organism-specific biosystem (from REACTOME)
      Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
    • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
      Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
    • Signaling by FGFR, organism-specific biosystem (from REACTOME)
      Signaling by FGFR, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR1, organism-specific biosystem (from REACTOME)
      Signaling by FGFR1, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR2, organism-specific biosystem (from REACTOME)
      Signaling by FGFR2, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR3, organism-specific biosystem (from REACTOME)
      Signaling by FGFR3, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by FGFR4, organism-specific biosystem (from REACTOME)
      Signaling by FGFR4, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
      Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Signaling by Leptin, organism-specific biosystem (from REACTOME)
      Signaling by Leptin, organism-specific biosystemLeptin (LEP, OB, OBS), a circulating adipokine, and its receptor LEPR (DB, OBR) control food intake and energy balance and are implicated in obesity-related diseases (recently reviewed in Amitani et ...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
    • Signaling by PTK6, organism-specific biosystem (from REACTOME)
      Signaling by PTK6, organism-specific biosystemPTK6 (BRK) is an oncogenic non-receptor tyrosine kinase that functions downstream of ERBB2 (HER2) (Xiang et al. 2008, Peng et al. 2015) and other receptor tyrosine kinases, such as EGFR (Kamalati et ...
    • Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
      Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
    • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
      Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...
    • Signaling by VEGF, organism-specific biosystem (from REACTOME)
      Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • Signalling to ERKs, organism-specific biosystem (from REACTOME)
      Signalling to ERKs, organism-specific biosystemNeurotrophins utilize multiple pathways to activate ERKs (ERK1 and ERK2), a subgroup of the large MAP kinase (MAPK) family, from the plasma membrane. The major signalling pathways to ERKs are via RAS...
    • Signalling to RAS, organism-specific biosystem (from REACTOME)
      Signalling to RAS, organism-specific biosystemSignalling through Shc adaptor proteins appears to be identical for both NGF and EGF. It leads to a fast, but transient, MAPK/ERK activation, which is insufficient to explain the prolonged activation...
    • Signalling to p38 via RIT and RIN, organism-specific biosystem (from REACTOME)
      Signalling to p38 via RIT and RIN, organism-specific biosystemRIT and RIN are two small guanine nucleotide binding proteins that share more than 50% sequence identity with RAS, including highly conserved core effector domains. Unlike RAS, the C termini of RIT a...
    • Syndecan-2-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      Syndecan-2-mediated signaling events, organism-specific biosystem
      Syndecan-2-mediated signaling events
    • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
      VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...
    • VEGFR2 mediated cell proliferation, organism-specific biosystem (from REACTOME)
      VEGFR2 mediated cell proliferation, organism-specific biosystemVEGFR2 stimulates ERK not via GRB2-SOS-RAS, but via pY1175-dependent phosphorylation of PLC gamma and subsequent activation of PKCs. PKC plays an important mediatory role in the proliferative Ras/Raf...
    • pilocytic astrocytoma, organism-specific biosystem (from WikiPathways)
      pilocytic astrocytoma, organism-specific biosystemIn this pathway shows the signaling in the development and behavior of the disease. receptor tyrosine kinase(rtk) is expressed in tumor endothelial cells of adult glioblastomas.NF1 and BRAF genes in...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ21220, DKFZp686J1293

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylcholine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylethanolamine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    MAPK cascade TAS
    Traceable Author Statement
    more info
     
    Ras protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Schwann cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    adrenal gland development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    amygdala development IEA
    Inferred from Electronic Annotation
    more info
     
    artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    brain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    camera-type eye morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell communication ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to heat IEA
    Inferred from Electronic Annotation
    more info
     
    cerebral cortex development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    collagen fibril organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular matrix organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extrinsic apoptotic signaling pathway via death domain receptors IEA
    Inferred from Electronic Annotation
    more info
     
    forebrain astrocyte development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    forebrain morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    gamma-aminobutyric acid secretion, neurotransmission IEA
    Inferred from Electronic Annotation
    more info
     
    glutamate secretion, neurotransmission IEA
    Inferred from Electronic Annotation
    more info
     
    heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    liver development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    metanephros development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    myelination in peripheral nervous system ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of MAP kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of MAPK cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of Rac protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell-matrix adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endothelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of fibroblast proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of neuroblast proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of neurotransmitter secretion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of oligodendrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of osteoclast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of transcription factor import into nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neural tube development IEA
    Inferred from Electronic Annotation
    more info
     
    observational learning IEA
    Inferred from Electronic Annotation
    more info
     
    osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    peripheral nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    phosphatidylinositol 3-kinase signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pigmentation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of adenylate cyclase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of extrinsic apoptotic signaling pathway via death domain receptors IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of neuron apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of blood vessel endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of bone resorption ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cell-matrix adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of glial cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of long-term neuronal synaptic plasticity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of long-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of synaptic transmission, GABAergic IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    smooth muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    spinal cord development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sympathetic nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    visual learning ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    wound healing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intrinsic component of the cytoplasmic side of the plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    neurofibromin
    Names
    neurofibromatosis 1
    neurofibromatosis-related protein NF-1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009018.1 RefSeqGene

      Range
      4951..287701
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_214

    mRNA and Protein(s)

    1. NM_000267.3NP_000258.1  neurofibromin isoform 2

      See identical proteins and their annotated locations for NP_000258.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to transcript variant 1, resulting in a shorter isoform (2) missing an internal 21 aa segment, compared to isoform 1.
      Source sequence(s)
      AC135724, AK026658, CN415204, D12625, M82814
      Consensus CDS
      CCDS11264.1
      UniProtKB/Swiss-Prot
      P21359
      Related
      ENSP00000348498, OTTHUMP00000163772, ENST00000356175, OTTHUMT00000256352
      Conserved Domains (4) summary
      cd05130
      Location:11981530
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11871536
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15601707
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
      cd13313
      Location:17071816
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    2. NM_001042492.2NP_001035957.1  neurofibromin isoform 1

      See identical proteins and their annotated locations for NP_001035957.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), with an additional in-frame coding exon, represents the longest transcript and encodes the longest isoform (1). Studies suggest preferential C->U RNA editing of transcripts containing this exon.
      Source sequence(s)
      AC135724, AK026658, BP271334, BX391799, D12625, M89914
      Consensus CDS
      CCDS42292.1
      UniProtKB/Swiss-Prot
      P21359
      Related
      ENSP00000351015, OTTHUMP00000163771, ENST00000358273, OTTHUMT00000256351
      Conserved Domains (4) summary
      cd05130
      Location:11981551
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11871557
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15811728
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
      cd13313
      Location:17281837
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    3. NM_001128147.2NP_001121619.1  neurofibromin isoform 3

      See identical proteins and their annotated locations for NP_001121619.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks multiple 3' exons and has an alternate 3' end, as compared to variant 1. The resulting isoform (3) has a much shorter and different C-terminus, and lacks ras-GTPase activating domain and SEC14 domain, compared to isoform 1.
      Source sequence(s)
      D12625, D42072, M82814
      Consensus CDS
      CCDS45645.1
      UniProtKB/Swiss-Prot
      P21359
      Related
      ENSP00000412921, OTTHUMP00000261007, ENST00000431387, OTTHUMT00000256353

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      31094927..31377677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721922.2XP_006721985.1  

      Conserved Domains (4) summary
      cd05130
      Location:12081561
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11971567
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15911738
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
      cd13313
      Location:17381847
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    2. XM_006721924.2XP_006721987.1  

      Conserved Domains (4) summary
      cd05130
      Location:12081561
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11971567
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15911738
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
      cd13313
      Location:17381847
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    3. XM_011524857.2XP_011523159.1  

      Conserved Domains (4) summary
      cd05130
      Location:12081561
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11971567
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15911738
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
      cd13313
      Location:17381847
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    4. XM_006721925.2XP_006721988.1  

      Conserved Domains (4) summary
      cd05130
      Location:12081540
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11971546
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15701717
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
      cd13313
      Location:17171826
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    5. XM_017024689.1XP_016880178.1  

    6. XM_011524852.2XP_011523154.1  

      Conserved Domains (4) summary
      cd05130
      Location:12071560
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11961566
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15901737
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
      cd13313
      Location:17371846
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    7. XM_005257983.2XP_005258040.1  

      Conserved Domains (4) summary
      cd05130
      Location:11981551
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11871557
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15811728
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
      cd13313
      Location:17281837
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    8. XM_005257984.2XP_005258041.1  

      Related
      ENSP00000389907, OTTHUMP00000166089, ENST00000456735, OTTHUMT00000259458
      Conserved Domains (4) summary
      cd05130
      Location:11981530
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11871536
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15601707
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
      cd13313
      Location:17071816
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    9. XM_006721926.3XP_006721989.1  

      See identical proteins and their annotated locations for XP_006721989.1

      Conserved Domains (4) summary
      cd05130
      Location:12081561
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11971567
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15911738
      SEC14; Sec14p-like lipid-binding domain. Found in secretory proteins, such as S. cerevisiae phosphatidylinositol transfer protein (Sec14p), and in lipid regulated proteins such as RhoGAPs, RhoGEFs and neurofibromin (NF1). SEC14 domain of Dbl is known to ...
      cd13313
      Location:17381847
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    10. XM_017024690.1XP_016880179.1  

      Related
      ENSP00000462408, OTTHUMP00000261008, ENST00000579081, OTTHUMT00000259463

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      29485166..29767533
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)