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Nf1 neurofibromatosis 1 [ Mus musculus (house mouse) ]

Gene ID: 18015, updated on 8-Dec-2014
Official Symbol
Nf1provided by MGI
Official Full Name
neurofibromatosis 1provided by MGI
Primary source
MGI:MGI:97306
Locus tag
RP23-188A3.1
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
Nf-1; AW494271; E030030H24Rik
Location:
11 B4-5; 11 46.74 cM
Exon count:
59
Annotation release Status Assembly Chr Location
104 current GRCm38.p2 (GCF_000001635.22) 11 NC_000077.6 (79336638..79581609)

Chromosome 11 - NC_000077.6Genomic Context describing neighboring genes 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?

  • 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
Ras GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Ras GTPase activator activity IGI
Inferred from Genetic Interaction
more info
PubMed 
Ras 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 
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 
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 
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 
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 Ras GTPase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of Ras GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of Ras 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 Ras GTPase activity ISO
Inferred from Sequence Orthology
more info
 
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 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 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
 
intracellular IGI
Inferred from Genetic Interaction
more info
PubMed 
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
neurofibromin
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 proteins identical to 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 (3) summary
    cd05130
    Location:12001553
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    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 104

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

Reference GRCm38.p2 C57BL/6J

Genomic

  1. NC_000077.6 

    Range
    79336638..79581609
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006532436.1XP_006532499.1  

    Conserved Domains (3) summary
    cd05130
    Location:12101563
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    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_006532442.1XP_006532505.1  

    Conserved Domains (3) summary
    cd05130
    Location:12101563
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    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_006532438.1XP_006532501.1  

    Conserved Domains (3) summary
    cd05130
    Location:12101563
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    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_006532440.1XP_006532503.1  

    Conserved Domains (3) summary
    cd05130
    Location:12101542
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    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
  5. XM_006532437.1XP_006532500.1  

    Conserved Domains (3) summary
    cd05130
    Location:12091562
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    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
  6. XM_006532439.1XP_006532502.1  

    Conserved Domains (3) summary
    cd05130
    Location:12001553
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    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_006532441.1XP_006532504.1  

    UniProtKB/Swiss-Prot
    Q04690
    Conserved Domains (3) summary
    cd05130
    Location:12001532
    RasGAP_Neurofibromin; Ras-GTPase Activating Domain of neurofibromin
    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 

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