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Nf1
Gene Detail
 Symbol
Name
ID
Nf1
neurofibromatosis 1
MGI:97306
Synonyms neurofibromin, Nf-1
Feature Type protein coding gene
Genetic Map
Chromosome 11
46.74 cM, cytoband B4-5
Detailed Genetic Map ± 1 cM


Mapping data(22)
Sequence Map
Chr11:79339693-79581612 bp, + strand
From VEGA annotation of GRCm38

  241920 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:226  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Nf1

Human
homologs
Human Homolog NF1, neurofibromin 1
NCBI Gene ID 4763
neXtProt AC  NX_P21359
Human Synonyms  NFNS, VRNF, WSS
Human Chr (Location)  17q11.2; chr17:31045488-31377677 (+)  GRCh38
Disease Associations  (5) Diseases Associated with Human NF1
Mutations,
alleles, and
phenotypes
All mutations/alleles(23) : Gene trapped(15) Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Nf1 (2)    Alleles Annotated to Human Diseases(4)   
Interactions
Nf1 interacts with 460 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (140 annotations)
Process actin cytoskeleton organization, adrenal gland development, ...
Component axon, cytoplasm, ...
Function GTPase activator activity, lipid binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (19 records)
Data Summary: Results (219)    Tissues (116)    Images (53)
Theiler Stages: 12, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 28
Assay TypeResults
Immunohistochemistry 60
RNA in situ 50
Northern blot 27
Western blot 19
RT-PCR 63
cDNA source data(26)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(55) Genomic(15) cDNA(32) Primer pair(5) Other(3)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000000164 (Evidence)
Ensembl Gene ModelENSMUSG00000020716 (Evidence)
Entrez Gene18015 (Evidence)
DFCITC1597014, TC1597700, TC1619609, TC1666374
DoTSDT.530303, DT.91337095, DT.94205971, DT.94387138
NIA Mouse Gene IndexU013036
Consensus CDS ProjectCCDS25119.1
International Mouse Knockout Project StatusNf1
Sequences
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 sequences
All sequences(70) RefSeq(16) UniProt(5)
Polymorphisms SNPs within 2kb(969 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011989 Armadillo-like helical
InterPro IPR016024 Armadillo-type fold
InterPro IPR001251 CRAL-TRIO domain
InterPro IPR001936 Ras GTPase-activating protein
InterPro IPR023152 Ras GTPase-activating protein, conserved site
InterPro IPR008936 Rho GTPase activation protein
Protein Ontology PR:000011160 neurofibromin
References (Earliest) J:32338 Julien JP, et al., Cloning of a cDNA encoding the smallest neurofilament protein from the rat. Biochim Biophys Acta. 1985 Aug 21;825(4):398-404
(Latest) J:210619 Duan JH, et al., N-type calcium current, Cav2.2, is enhanced in small-diameter sensory neurons isolated from Nf1+/- mice. Neuroscience. 2014 Jun 13;270:192-202
All references(293)
Disease annotation references (18)
Other
accession IDs
MGD-MRK-12821, MGD-MRK-12822, MGI:2144546

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory