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    Nf1 neurofibromatosis 1 [ Mus musculus (house mouse) ]

    Gene ID: 18015, updated on 12-Apr-2016
    Official Symbol
    Nf1provided by MGI
    Official Full Name
    neurofibromatosis 1provided by MGI
    Primary source
    MGI:MGI:97306
    See related
    Ensembl:ENSMUSG00000020716 Vega:OTTMUSG00000000164
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Dsk9; Nf-1; AW494271; Mhdadsk9; E030030H24Rik
    Orthologs
    Location:
    11 46.74 cM; 11 B4-5
    Exon count:
    59
    Annotation release Status Assembly Chr Location
    105 current GRCm38.p3 (GCF_000001635.23) 11 NC_000077.6 (79335988..79581609)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (79153394..79395111)

    Chromosome 11 - NC_000077.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 30470 Neighboring gene WD repeat and SOCS box-containing 1 Neighboring gene predicted gene, 30561 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene predicted gene, 30664 Neighboring gene expressed sequence AU040972 Neighboring gene predicted gene 21975 Neighboring gene ecotropic viral integration site 2b Neighboring gene oligodendrocyte myelin glycoprotein Neighboring gene ecotropic viral integration site 2a Neighboring gene RAB11 family interacting protein 4 (class II), opposite strand 1 Neighboring gene RAB11 family interacting protein 4 (class II) Neighboring gene predicted gene, 30718

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
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    • 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...
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by MGI

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

    mRNA and Protein(s)

    1. NM_010897.2NP_035027.1  neurofibromin

      See identical proteins and their annotated locations for NP_035027.1

      Status: VALIDATED

      Source sequence(s)
      AL591126, AL591174
      Consensus CDS
      CCDS25119.1
      UniProtKB/Swiss-Prot
      Q04690
      Related
      ENSMUSP00000071289, OTTMUSP00000000223, ENSMUST00000071325, OTTMUST00000000504
      Conserved Domains (4) summary
      cd05130
      Location:12001553
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11891559
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15831730
      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:17301839
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105 details...

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

    Reference GRCm38.p3 C57BL/6J

    Genomic

    1. NC_000077.6 Reference GRCm38.p3 C57BL/6J

      Range
      79335988..79581609
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006532442.2XP_006532505.1  

      Conserved Domains (4) summary
      cd05130
      Location:12101563
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11991569
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15931740
      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:17401849
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    2. XM_006532436.2XP_006532499.1  

      Conserved Domains (4) summary
      cd05130
      Location:12101563
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11991569
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15931740
      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:17401849
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    3. XM_006532438.2XP_006532501.1  

      Conserved Domains (4) summary
      cd05130
      Location:12101563
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11991569
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15931740
      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:17401849
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    4. XM_006532437.2XP_006532500.1  

      Conserved Domains (4) summary
      cd05130
      Location:12091562
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11981568
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15921739
      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:17391848
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    5. XM_006532440.2XP_006532503.1  

      Conserved Domains (4) summary
      cd05130
      Location:12101542
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11991548
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15721719
      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:17191828
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    6. XM_006532439.2XP_006532502.1  

      Conserved Domains (4) summary
      cd05130
      Location:12001553
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11891559
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15831730
      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:17301839
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
    7. XM_006532441.2XP_006532504.1  

      UniProtKB/Swiss-Prot
      Q04690
      Related
      ENSMUSP00000103886, OTTMUSP00000000224, ENSMUST00000108251, OTTMUST00000000506
      Conserved Domains (4) summary
      cd05130
      Location:12001532
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      smart00323
      Location:11891538
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd00170
      Location:15621709
      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:17091818
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain

    Alternate Mm_Celera

    Genomic

    1. AC_000033.1 Alternate Mm_Celera

      Range
      89016599..89214295
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)