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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
  • Alliance
    gene page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:79230519-79472438 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 46.74 cM, cytoband B4-5
  • Mapping Data
    23 experiments
Strain
Comparison
more
  • SNPs within 2kb
    4961 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 Chr11:79223541-79472438 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NF1, neurofibromin 1
  • Synonyms
    NFNS, VRNF, WSS
  • Links
    NCBI Gene ID: 4763
    neXtProt AC: NX_P21359
    UniProt: P21359

  • Chr Location
    17q11.2; chr17:31094927-31382116 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Nf1 mouse models; 10 with human NF1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 17 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    22 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    189 phenotypes from 12 alleles in 29 genetic backgrounds
    97 phenotypes from multigenic genotypes
    1 images
    347 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.
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
    241
  • GO References
    58
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    981
  • Tissues
    129
  • cDNA Data
    27
  • Literature Summary
    33
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 60
      Genomic 15
      cDNA 33
      Primer pair 8
      Other 4

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-12821, MGD-MRK-12822, MGI:2144546, MGI:2450693
    References
    more
    • Summaries
      All 482
      Developmental Gene Expression 33
      Diseases 22
      Gene Ontology 58
      Phenotypes 347
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:357394 Patritti-Cram J, et al., NF1-dependent disruption of the blood-nerve-barrier is improved by blockade of P2RY14. iScience. 2024 Jul 19;27(7):110294
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory