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    Nf1 neurofibromin 1 [ Mus musculus (house mouse) ]

    Gene ID: 18015, updated on 16-Aug-2021

    Summary

    Official Symbol
    Nf1provided by MGI
    Official Full Name
    neurofibromin 1provided by MGI
    Primary source
    MGI:MGI:97306
    See related
    Ensembl:ENSMUSG00000020716
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Dsk; Nf-; Dsk9; Nf-1; Mhdads; AW494271; Mhdadsk9; E030030H24Rik
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 6.5), whole brain E14.5 (RPKM 6.4) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Nf1 in Genome Data Viewer
    Location:
    11 B5; 11 46.74 cM
    Exon count:
    59
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (79223541..79472435)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (79339590..79581609)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 11 NC_000077.5 (79153394..79395111)

    Chromosome 11 - NC_000077.7Genomic 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 expressed sequence AU040972 Neighboring gene ecotropic viral integration site 2b Neighboring gene oligodendrocyte myelin glycoprotein Neighboring gene ecotropic viral integration site 2 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, 23293

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

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

    General protein information

    Preferred Names
    neurofibromin
    Names
    neurofibromatosis 1
    neurofibromatosis-related protein NF-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      ENSMUSP00000071289.3, ENSMUST00000071325.9
      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
      cd13313
      Location:17301839
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
      pfam13716
      Location:16041730
      CRAL_TRIO_2; Divergent CRAL/TRIO domain

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      79223541..79472435
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006532436.5XP_006532499.1  neurofibromin isoform X1

      Conserved Domains (3) summary
      cd05130
      Location:12101563
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd13313
      Location:17401849
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
      pfam13716
      Location:16141748
      CRAL_TRIO_2; Divergent CRAL/TRIO domain
    2. XM_006532442.5XP_006532505.1  neurofibromin isoform X9

      Conserved Domains (3) summary
      cd05130
      Location:12101563
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd13313
      Location:17401849
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
      pfam13716
      Location:16141748
      CRAL_TRIO_2; Divergent CRAL/TRIO domain
    3. XM_006532438.5XP_006532501.1  neurofibromin isoform X3

      Conserved Domains (3) summary
      cd05130
      Location:12101563
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd13313
      Location:17401849
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
      pfam13716
      Location:16141748
      CRAL_TRIO_2; Divergent CRAL/TRIO domain
    4. XM_006532440.5XP_006532503.1  neurofibromin isoform X6

      Conserved Domains (3) summary
      cd05130
      Location:12101542
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd13313
      Location:17191828
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
      pfam13716
      Location:15931727
      CRAL_TRIO_2; Divergent CRAL/TRIO domain
    5. XM_006532437.5XP_006532500.1  neurofibromin isoform X2

      Conserved Domains (3) summary
      cd05130
      Location:12091562
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd13313
      Location:17391848
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
      pfam13716
      Location:16131747
      CRAL_TRIO_2; Divergent CRAL/TRIO domain
    6. XM_006532439.5XP_006532502.1  neurofibromin isoform X4

      Conserved Domains (3) summary
      cd05130
      Location:12001553
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd13313
      Location:17301839
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
      pfam13716
      Location:16041738
      CRAL_TRIO_2; Divergent CRAL/TRIO domain
    7. XM_036156400.1XP_036012293.1  neurofibromin isoform X7

      Conserved Domains (3) summary
      cd05130
      Location:12001532
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd13313
      Location:17091818
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
      pfam13716
      Location:15831717
      CRAL_TRIO_2; Divergent CRAL/TRIO domain
    8. XM_030245644.2XP_030101504.1  neurofibromin isoform X5

      Conserved Domains (3) summary
      cd05130
      Location:11991552
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd13313
      Location:17291838
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
      pfam13716
      Location:16031737
      CRAL_TRIO_2; Divergent CRAL/TRIO domain
    9. XM_006532441.5XP_006532504.1  neurofibromin isoform X8

      UniProtKB/Swiss-Prot
      Q04690
      Related
      ENSMUSP00000103886.3, ENSMUST00000108251.9
      Conserved Domains (3) summary
      cd05130
      Location:12001532
      RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
      cd13313
      Location:17091818
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
      pfam13716
      Location:15831717
      CRAL_TRIO_2; Divergent CRAL/TRIO domain
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