U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

    Nf1 neurofibromin 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 24592, updated on 9-Dec-2024

    Summary

    Official Symbol
    Nf1provided by RGD
    Official Full Name
    neurofibromin 1provided by RGD
    Primary source
    RGD:3168
    See related
    EnsemblRapid:ENSRNOG00000013780 AllianceGenome:RGD:3168
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Enables microtubule binding activity and syndecan binding activity. Involved in several processes, including Schwann cell differentiation; cellular response to dexamethasone stimulus; and regulation of modification of postsynaptic structure. Located in several cellular components, including axon; dendrite; and nucleus. Part of protein-containing complex. Is active in glutamatergic synapse. Biomarker of sciatic neuropathy and transient cerebral ischemia. Human ortholog(s) of this gene implicated in several diseases, including Watson syndrome; autistic disorder; hematologic cancer (multiple); neurofibromatosis 1 (multiple); and peripheral nervous system neoplasm (multiple). Orthologous to human NF1 (neurofibromin 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Brain (RPKM 240.4), Adrenal (RPKM 189.7) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Nf1 in Genome Data Viewer
    Location:
    10q25
    Exon count:
    60
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 10 NC_086028.1 (64803986..65037086)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 10 NC_051345.1 (64306027..64539112)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 10 NC_005109.4 (66732460..66928706)

    Chromosome 10 - NC_086028.1Genomic Context describing neighboring genes Neighboring gene FAU ubiquitin like and ribosomal protein S30 fusion like 2 Neighboring gene uncharacterized LOC120095152 Neighboring gene uncharacterized LOC102552371 Neighboring gene ecotropic viral integration site 2B Neighboring gene oligodendrocyte-myelin glycoprotein Neighboring gene U6 spliceosomal RNA Neighboring gene ecotropic viral integration site 2A Neighboring gene uncharacterized LOC134480704 Neighboring gene RAB11 family interacting protein 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables GTPase activator activity  
    enables GTPase activator activity PubMed 
    enables GTPase activator activity  
    enables GTPase activator activity  
    enables microtubule binding PubMed 
    enables phosphatidylcholine binding  
    enables phosphatidylcholine binding  
    enables phosphatidylethanolamine binding  
    enables phosphatidylethanolamine binding  
    enables protein binding PubMed 
    enables syndecan binding PubMed 
    Items 1 - 25 of 250
    Process Evidence Code Pubs
    involved_in MAPK cascade  
    acts_upstream_of MAPK cascade  
    acts_upstream_of_or_within MAPK cascade  
    involved_in MAPK cascade  
    involved_in Rac protein signal transduction  
    acts_upstream_of Rac protein signal transduction  
    involved_in Ras protein signal transduction  
    acts_upstream_of Ras protein signal transduction  
    acts_upstream_of_or_within Ras protein signal transduction  
    involved_in Ras protein signal transduction  
    acts_upstream_of_or_within Schwann cell development  
    involved_in Schwann cell development  
    involved_in Schwann cell differentiation PubMed 
    involved_in Schwann cell migration  
    acts_upstream_of Schwann cell migration  
    involved_in Schwann cell proliferation  
    acts_upstream_of Schwann cell proliferation  
    involved_in actin cytoskeleton organization  
    acts_upstream_of_or_within actin cytoskeleton organization  
    involved_in actin cytoskeleton organization  
    involved_in adrenal gland development  
    acts_upstream_of_or_within adrenal gland development  
    involved_in adrenal gland development  
    involved_in amygdala development  
    acts_upstream_of_or_within amygdala development  
    involved_in angiogenesis  
    acts_upstream_of angiogenesis  
    acts_upstream_of apoptotic process  
    involved_in artery morphogenesis  
    acts_upstream_of_or_within artery morphogenesis  
    involved_in artery morphogenesis  
    acts_upstream_of astrocyte differentiation  
    acts_upstream_of_or_within brain development  
    involved_in brain development  
    involved_in camera-type eye morphogenesis  
    acts_upstream_of_or_within camera-type eye morphogenesis  
    involved_in camera-type eye morphogenesis  
    acts_upstream_of_or_within cell communication  
    involved_in cell communication  
    acts_upstream_of cell migration  
    acts_upstream_of cell population proliferation  
    involved_in cellular response to dexamethasone stimulus PubMed 
    involved_in cellular response to heat  
    acts_upstream_of_or_within cellular response to heat  
    involved_in cellular response to nerve growth factor stimulus PubMed 
    involved_in cerebral cortex development  
    acts_upstream_of_or_within cerebral cortex development  
    involved_in cerebral cortex development  
    involved_in cognition  
    involved_in collagen fibril organization  
    acts_upstream_of_or_within collagen fibril organization  
    involved_in collagen fibril organization  
    involved_in endothelial cell proliferation  
    acts_upstream_of endothelial cell proliferation  
    acts_upstream_of_or_within extracellular matrix organization  
    involved_in extracellular matrix organization  
    involved_in extrinsic apoptotic signaling pathway in absence of ligand  
    acts_upstream_of extrinsic apoptotic signaling pathway in absence of ligand  
    involved_in extrinsic apoptotic signaling pathway via death domain receptors  
    acts_upstream_of_or_within extrinsic apoptotic signaling pathway via death domain receptors  
    involved_in fibroblast proliferation  
    acts_upstream_of fibroblast proliferation  
    involved_in forebrain astrocyte development  
    acts_upstream_of_or_within forebrain astrocyte development  
    involved_in forebrain astrocyte development  
    involved_in forebrain morphogenesis  
    acts_upstream_of_or_within forebrain morphogenesis  
    involved_in forebrain morphogenesis  
    involved_in gamma-aminobutyric acid secretion, neurotransmission  
    acts_upstream_of_or_within gamma-aminobutyric acid secretion, neurotransmission  
    acts_upstream_of glial cell proliferation  
    involved_in glutamate secretion, neurotransmission  
    acts_upstream_of_or_within glutamate secretion, neurotransmission  
    involved_in hair follicle maturation  
    acts_upstream_of_or_within hair follicle maturation  
    involved_in heart development  
    acts_upstream_of_or_within heart development  
    involved_in heart development  
    acts_upstream_of leukocyte apoptotic process  
    involved_in liver development  
    acts_upstream_of_or_within liver development  
    involved_in liver development  
    involved_in long-term synaptic potentiation  
    acts_upstream_of_or_within long-term synaptic potentiation  
    involved_in mast cell apoptotic process  
    acts_upstream_of mast cell apoptotic process  
    involved_in mast cell proliferation  
    acts_upstream_of mast cell proliferation  
    involved_in metanephros development  
    acts_upstream_of_or_within metanephros development  
    involved_in metanephros development  
    involved_in myelination in peripheral nervous system  
    acts_upstream_of_or_within myelination in peripheral nervous system  
    involved_in myelination in peripheral nervous system  
    acts_upstream_of myeloid cell apoptotic process  
    involved_in myeloid leukocyte migration  
    acts_upstream_of myeloid leukocyte migration  
    acts_upstream_of_or_within negative regulation of MAP kinase activity  
    involved_in negative regulation of MAPK cascade  
    acts_upstream_of_or_within negative regulation of MAPK cascade  
    involved_in negative regulation of MAPK cascade  
    involved_in negative regulation of Rac protein signal transduction  
    acts_upstream_of_or_within negative regulation of Rac protein signal transduction  
    involved_in negative regulation of Ras protein signal transduction  
    acts_upstream_of_or_within negative regulation of Ras protein signal transduction  
    involved_in negative regulation of Schwann cell migration  
    acts_upstream_of_or_within negative regulation of Schwann cell migration  
    involved_in negative regulation of Schwann cell proliferation  
    acts_upstream_of_or_within negative regulation of Schwann cell proliferation  
    involved_in negative regulation of angiogenesis  
    acts_upstream_of_or_within negative regulation of angiogenesis  
    involved_in negative regulation of astrocyte differentiation  
    acts_upstream_of_or_within negative regulation of astrocyte differentiation  
    acts_upstream_of_or_within negative regulation of cell migration  
    acts_upstream_of_or_within negative regulation of cell population proliferation  
    involved_in negative regulation of cell-matrix adhesion  
    acts_upstream_of_or_within negative regulation of cell-matrix adhesion  
    involved_in negative regulation of endothelial cell proliferation  
    acts_upstream_of_or_within negative regulation of endothelial cell proliferation  
    involved_in negative regulation of endothelial cell proliferation  
    involved_in negative regulation of fibroblast proliferation  
    acts_upstream_of_or_within negative regulation of fibroblast proliferation  
    involved_in negative regulation of fibroblast proliferation  
    involved_in negative regulation of fibroblast proliferation  
    acts_upstream_of_or_within negative regulation of glial cell proliferation  
    involved_in negative regulation of leukocyte migration  
    acts_upstream_of_or_within negative regulation of leukocyte migration  
    involved_in negative regulation of mast cell proliferation  
    acts_upstream_of_or_within negative regulation of mast cell proliferation  
    involved_in negative regulation of neuroblast proliferation  
    acts_upstream_of_or_within negative regulation of neuroblast proliferation  
    involved_in negative regulation of neuroblast proliferation  
    involved_in negative regulation of neurotransmitter secretion  
    acts_upstream_of_or_within negative regulation of neurotransmitter secretion  
    involved_in negative regulation of oligodendrocyte differentiation  
    acts_upstream_of_or_within negative regulation of oligodendrocyte differentiation  
    involved_in negative regulation of oligodendrocyte differentiation  
    involved_in negative regulation of osteoclast differentiation  
    acts_upstream_of_or_within negative regulation of osteoclast differentiation  
    involved_in negative regulation of protein import into nucleus  
    acts_upstream_of_or_within negative regulation of protein import into nucleus  
    acts_upstream_of_or_within negative regulation of protein kinase activity  
    involved_in negative regulation of stem cell proliferation  
    acts_upstream_of_or_within negative regulation of stem cell proliferation  
    involved_in negative regulation of vascular associated smooth muscle cell migration  
    acts_upstream_of_or_within negative regulation of vascular associated smooth muscle cell migration  
    involved_in neural tube development  
    acts_upstream_of_or_within neural tube development  
    involved_in neuroblast proliferation  
    acts_upstream_of neuroblast proliferation  
    involved_in neuron apoptotic process  
    acts_upstream_of neuron apoptotic process  
    acts_upstream_of neurotransmitter secretion  
    involved_in observational learning  
    acts_upstream_of_or_within observational learning  
    involved_in oligodendrocyte differentiation  
    acts_upstream_of oligodendrocyte differentiation  
    involved_in osteoblast differentiation  
    acts_upstream_of_or_within osteoblast differentiation  
    involved_in osteoblast differentiation  
    involved_in osteoclast differentiation  
    acts_upstream_of osteoclast differentiation  
    acts_upstream_of_or_within peripheral nervous system development  
    involved_in peripheral nervous system development  
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction  
    acts_upstream_of_or_within phosphatidylinositol 3-kinase/protein kinase B signal transduction  
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction  
    involved_in pigmentation  
    acts_upstream_of_or_within pigmentation  
    involved_in pigmentation  
    acts_upstream_of_or_within positive regulation of GTPase activity  
    involved_in positive regulation of GTPase activity  
    involved_in positive regulation of GTPase activity  
    acts_upstream_of_or_within positive regulation of adenylate cyclase activity  
    acts_upstream_of_or_within positive regulation of apoptotic process  
    involved_in positive regulation of apoptotic process  
    involved_in positive regulation of endothelial cell proliferation  
    acts_upstream_of_or_within positive regulation of endothelial cell proliferation  
    involved_in positive regulation of extrinsic apoptotic signaling pathway in absence of ligand  
    acts_upstream_of_or_within positive regulation of extrinsic apoptotic signaling pathway in absence of ligand  
    acts_upstream_of_or_within positive regulation of leukocyte apoptotic process  
    involved_in positive regulation of mast cell apoptotic process  
    acts_upstream_of_or_within positive regulation of mast cell apoptotic process  
    acts_upstream_of_or_within positive regulation of myeloid cell apoptotic process  
    involved_in positive regulation of neuron apoptotic process  
    acts_upstream_of_or_within positive regulation of neuron apoptotic process  
    involved_in positive regulation of neuron apoptotic process  
    involved_in positive regulation of neuron projection development PubMed 
    involved_in positive regulation of vascular associated smooth muscle cell proliferation  
    acts_upstream_of_or_within positive regulation of vascular associated smooth muscle cell proliferation  
    involved_in postsynaptic signal transduction PubMed 
    involved_in postsynaptic signal transduction PubMed 
    involved_in postsynaptic signal transduction PubMed 
    involved_in protein import into nucleus  
    acts_upstream_of protein import into nucleus  
    involved_in regulation of ERK1 and ERK2 cascade  
    acts_upstream_of_or_within regulation of ERK1 and ERK2 cascade  
    acts_upstream_of_or_within regulation of MAPK cascade  
    acts_upstream_of_or_within regulation of angiogenesis  
    involved_in regulation of angiogenesis  
    involved_in regulation of angiogenesis  
    involved_in regulation of blood vessel endothelial cell migration  
    involved_in regulation of bone resorption  
    acts_upstream_of_or_within regulation of bone resorption  
    involved_in regulation of bone resorption  
    acts_upstream_of_or_within regulation of cell population proliferation  
    acts_upstream_of_or_within regulation of cell-matrix adhesion  
    involved_in regulation of cell-matrix adhesion  
    involved_in regulation of gene expression  
    acts_upstream_of_or_within regulation of gene expression  
    acts_upstream_of_or_within regulation of glial cell differentiation  
    involved_in regulation of glial cell differentiation  
    involved_in regulation of long-term neuronal synaptic plasticity  
    acts_upstream_of_or_within regulation of long-term neuronal synaptic plasticity  
    involved_in regulation of long-term synaptic potentiation  
    acts_upstream_of_or_within regulation of long-term synaptic potentiation  
    involved_in regulation of modification of postsynaptic structure PubMed 
    involved_in regulation of modification of postsynaptic structure PubMed 
    involved_in regulation of modification of postsynaptic structure PubMed 
    involved_in regulation of neuron differentiation PubMed 
    involved_in regulation of postsynapse organization  
    involved_in regulation of postsynapse organization  
    involved_in regulation of synaptic transmission, GABAergic  
    acts_upstream_of_or_within regulation of synaptic transmission, GABAergic  
    involved_in response to hypoxia  
    acts_upstream_of_or_within response to hypoxia  
    involved_in response to hypoxia  
    involved_in skeletal muscle tissue development  
    acts_upstream_of_or_within skeletal muscle tissue development  
    involved_in smooth muscle tissue development  
    acts_upstream_of_or_within smooth muscle tissue development  
    involved_in smooth muscle tissue development  
    involved_in spinal cord development  
    acts_upstream_of_or_within spinal cord development  
    involved_in spinal cord development  
    involved_in stem cell proliferation  
    acts_upstream_of stem cell proliferation  
    involved_in sympathetic nervous system development  
    acts_upstream_of_or_within sympathetic nervous system development  
    involved_in sympathetic nervous system development  
    involved_in vascular associated smooth muscle cell migration  
    acts_upstream_of vascular associated smooth muscle cell migration  
    involved_in vascular associated smooth muscle cell proliferation  
    acts_upstream_of vascular associated smooth muscle cell proliferation  
    involved_in visual learning  
    acts_upstream_of_or_within visual learning  
    involved_in visual learning  
    involved_in wound healing  
    acts_upstream_of_or_within wound healing  
    involved_in wound healing  
    Items 1 - 25 of 250
    Component Evidence Code Pubs
    located_in axon PubMed 
    located_in axon  
    located_in cytoplasm PubMed 
    located_in cytoplasm  
    located_in cytoplasm  
    located_in dendrite PubMed 
    located_in dendrite  
    is_active_in glutamatergic synapse PubMed 
    is_active_in glutamatergic synapse PubMed 
    located_in glutamatergic synapse  
    is_active_in glutamatergic synapse PubMed 
    is_active_in glutamatergic synapse  
    located_in nucleolus  
    located_in nucleoplasm  
    located_in nucleus PubMed 
    located_in plasma membrane  
    located_in plasma membrane  
    located_in presynapse  
    part_of protein-containing complex PubMed 

    General protein information

    Preferred Names
    neurofibromin
    Names
    Neurofibromatosis type 1
    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_012609.1NP_036741.1  neurofibromin

      See identical proteins and their annotated locations for NP_036741.1

      Status: PROVISIONAL

      Source sequence(s)
      D45201
      UniProtKB/Swiss-Prot
      P97526
      UniProtKB/TrEMBL
      F1LM28
      Related
      ENSRNOP00000050393.4, ENSRNOT00000046262.6
      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
      cd13313
      Location:17091818
      PH_NF1; Neurofibromin-1 Pleckstrin homology-like domain
      pfam13716
      Location:15831709
      CRAL_TRIO_2; Divergent CRAL/TRIO domain

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086028.1 Reference GRCr8

      Range
      64803986..65037086
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063268411.1XP_063124481.1  neurofibromin isoform X3

    2. XM_039085200.2XP_038941128.1  neurofibromin isoform X1

      UniProtKB/TrEMBL
      F1LM28
      Related
      ENSRNOP00000069925.3, ENSRNOT00000089538.3
      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_039085201.2XP_038941129.1  neurofibromin isoform X2

      UniProtKB/TrEMBL
      A0A0G2JWL3, F1LM28
      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
    External link. Please review our privacy policy.