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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

HCOP human homology predictions: NF1
Gene Tree: Nf1

Human
homologs
NF1, neurofibromin 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4763
neXtProt AC: NX_P21359

Human Synonyms: NFNS, VRNF, WSS

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

Disease Associations: (5) Diseases Associated with Human NF1

Mutations,
alleles, and
phenotypes
All mutations/alleles(25) : Gene trapped(15) Targeted(10)
Genomic Mutations involving Nf1 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Nf1 (2)    Mutations Annotated to Human Diseases (4)   
Interactions
Nf1 interacts with 459 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (147 annotations)
Process actin cytoskeleton organization, adrenal gland development, ...
Component axon, cell, ...
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)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 60
RNA in situ 50
Northern blot 27
Western blot 19
RT-PCR 63
cDNA source data(26)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase nf1 ; ZFIN nf1a, nf1b    NEW 
Molecular
reagents
All nucleic(55) Genomic(15) cDNA(32) Primer pair(5) Other(3)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000000164 (Evidence)
Ensembl Gene Model ENSMUSG00000020716 (Evidence)
Entrez Gene 18015 (Evidence)
DFCI TC1597014, TC1597700, TC1619609, TC1666374
DoTS DT.530303, DT.91337095, DT.94205971, DT.94387138
NIA Mouse Gene Index U013036
Consensus CDS Project CCDS25119.1
International Mouse Phenotyping Consortium Status Nf1
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: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:221342 Anastasaki C, et al., Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning. Hum Mol Genet. 2015 Jun 15;24(12):3518-28
All references(305)
Disease annotation references (20)
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
07/21/2015
MGI 5.22
The Jackson Laboratory