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 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; chr17:29421945-29704695 (+)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human NF1

Alleles and phenotypes

All alleles(23) : Targeted(8) Gene trapped(15)
 

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 (1)    Alleles Annotated to Human Diseases(4)   

Gene Ontology (GO) classifications

All GO classifications: (132 annotations)

Process	actin cytoskeleton organization, adrenal gland development, ...
Component	axon, cytoplasm, ...
Function	GTPase activator activity, microtubule 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 (52)
Theiler Stages: 12, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 28

Assay Type	Results
Immunohistochemistry	60
RNA in situ	50
Northern blot	27
Western blot	19
RT-PCR	63

cDNA source data(26)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Nf1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000000164	VEGA Gene Model | MGI Sequence Detail	241920	C57BL/6J
transcript	OTTMUST00000000504	VEGA | MGI Sequence Detail	11917	Not Applicable
polypeptide	OTTMUSP00000000223	VEGA | MGI Sequence Detail	2841	Not Applicable

All sequences(57) RefSeq(2) UniProt(6)

Polymorphisms

SNPs(466 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:192569 Stansfield BK, et al., Heterozygous inactivation of the Nf1 gene in myeloid cells enhances neointima formation via a rosuvastatin-sensitive cellular pathway. Hum Mol Genet. 2013 Mar 1;22(5):977-88
All references(266)

Other accession IDs

MGD-MRK-12821, MGD-MRK-12822, MGI:2144546