About   Help   FAQ
Nf1 Gene Detail
Summary
  • Symbol
    Nf1
  • Name
    neurofibromin 1
  • Synonyms
    Dsk9, Mhdadsk9, neurofibromin, Nf-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97306
    NCBI Gene: 18015
  • Gene Overview
    MyGene.info: NF1
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:79339693-79581612 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 46.74 cM, cytoband B4-5
  • Mapping Data
    23 experiments
Strain
Comparison
more
  • SNPs within 2kb
    972 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97306
protein coding gene Chr11:79338389-79581612 (.)
129S1/SvImJ MGP_129S1SvImJ_G0018796
protein coding gene Chr11:80429546-80692585 (+)
A/J MGP_AJ_G0018763
protein coding gene Chr11:77340864-77587860 (+)
AKR/J MGP_AKRJ_G0018733
protein coding gene Chr11:79663342-79913507 (+)
BALB/cJ MGP_BALBcJ_G0018736
protein coding gene Chr11:77748513-77995706 (+)
C3H/HeJ MGP_C3HHeJ_G0018550
protein coding gene Chr11:79714285-79975287 (+)
C57BL/6NJ MGP_C57BL6NJ_G0019188
protein coding gene Chr11:82906041-83171309 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016822
protein coding gene Chr11:74282104-74533326 (+)
CAST/EiJ MGP_CASTEiJ_G0018105
protein coding gene Chr11:80186386-80442164 (+)
CBA/J MGP_CBAJ_G0018521
protein coding gene Chr11:86528446-86788093 (+)
DBA/2J MGP_DBA2J_G0018629
protein coding gene Chr11:76894190-77138948 (+)
FVB/NJ MGP_FVBNJ_G0018618
protein coding gene Chr11:76492506-76737013 (+)
LP/J MGP_LPJ_G0018699
protein coding gene Chr11:80937529-81203488 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018645
protein coding gene Chr11:86837387-87087571 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0019228
protein coding gene Chr11:79922983-80175956 (+)
PWK/PhJ MGP_PWKPhJ_G0017875
protein coding gene Chr11:77705581-77956387 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017666
protein coding gene Chr11:79527157-79780949 (+)
WSB/EiJ MGP_WSBEiJ_G0018157
protein coding gene Chr11:79746357-80000579 (+)



Homology
more
  • Human Ortholog
    NF1, neurofibromin 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NF1, neurofibromin 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    NFNS, VRNF, WSS
  • Links
    NCBI Gene ID: 4763
    neXtProt AC: NX_P21359
    UniProt: P21359

  • Chr Location
    17q11.2; chr17:31094927-31377677 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 226
    1 human;1 mouse;1 rat;1 chimpanzee;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: NF1
  • Gene Tree
    Nf1
Human Diseases
more
  • Diseases
    2 with Nf1 mouse models; 2 with human NF1 associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 14 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    20 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    167 phenotypes from 8 alleles in 24 genetic backgrounds
    96 phenotypes from multigenic genotypes
    1 images
    255 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous embryos die by day 14.5 with enlarged head and chest, pale liver, microphthalmia, cardiac defects and delayed organ development. Heterozygotes have elevated astrocyte number, predisposition to multiple tumor types and learning/memory deficits.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020716 Ensembl Gene Model | MGI Sequence Detail 241920 C57BL/6J ±  kb
    transcript ENSMUST00000071325 Ensembl | MGI Sequence Detail 11917 Not Applicable  
    polypeptide ENSMUSP00000071289 Ensembl | MGI Sequence Detail 2841 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 57
      Genomic 15
      cDNA 33
      Primer pair 5
      Other 4

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-12821, MGD-MRK-12822, MGI:2144546, MGI:2450693
    References
    more
    • Summaries
      All 379
      Developmental Gene Expression 26
      Diseases 20
      Gene Ontology 55
      Phenotypes 255
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:265441 Liao CP, et al., Contributions of inflammation and tumor microenvironment to neurofibroma tumorigenesis. J Clin Invest. 2018 Jul 2;128(7):2848-2861

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    12/11/2018
    MGI 6.13
    The Jackson Laboratory