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

    Mouse Genome Browser

  • Download
    Sequence
      241920 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 46.74 cM, cytoband B4-5
  • Mapping Data
    23 experiments
Homology
more
  • Human Ortholog
    NF1, neurofibromin 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NF1, neurofibromin 1
    Orthology source: HomoloGene
  • Synonyms
    NFNS, VRNF, WSS
  • Links
    NCBI Gene ID: 4763
    neXtProt AC: NX_P21359

  • Chr Location
    17q11.2; chr17:31007873-31377677 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 226
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: NF1
  • Gene Tree
    Nf1
Human Diseases
more
  • Diseases
    2 with Nf1 mouse models; 5 with human NF1 associations

Human Disease Mouse Models
       Juvenile Myelomonocytic Leukemia; JMML   OMIM: 607785 View 2 models
Neurofibromatosis, Type I; NF1   OMIM: 162200 View 14 models
       Neurofibromatosis, Familial Spinal   OMIM: 162210
Neurofibromatosis-Noonan Syndrome; NFNS   OMIM: 601321
Watson Syndrome; WTSN   OMIM: 193520
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    28 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    166 phenotypes from 8 alleles in 24 genetic backgrounds
    92 phenotypes from multigenic genotypes
    235 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    27
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    15
  • Targeted
    10
  • Genomic Mutations
    2 involving Nf1
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000000164 VEGA Gene Model | MGI Sequence Detail 241920 C57BL/6J ±  kb
transcript OTTMUST00000000504 VEGA | MGI Sequence Detail 11917 Not Applicable  
polypeptide OTTMUSP00000000223 VEGA | MGI Sequence Detail 2841 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    972 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 56
    Genomic 15
    cDNA 32
    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 328
    Developmental Gene Expression 22
    Diseases 28
    Gene Ontology 55
    Phenotypes 235
  • Earliest
    J:10738 Buchberg AM, et al., Sequence homology shared by neurofibromatosis type-1 gene and IRA-1 and IRA-2 negative regulators of the RAS cyclic AMP pathway [see comments]. Nature. 1990 Sep 20;347(6290):291-4
  • Latest
    J:233023 Toonen JA, et al., NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1. Hum Mol Genet. 2016 May 1;25(9):1703-13

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
08/17/2016
MGI 6.05
The Jackson Laboratory