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Aliases for NF1 Gene

Aliases for NF1 Gene

  • Neurofibromin 1 2 3
  • Neurofibromatosis-Related Protein NF-1 3 4
  • NFNS 3 6
  • VRNF 3 6
  • WSS 3 6
  • Von Recklinghausen Disease 2
  • Neurofibromatosis 2
  • Watson Disease 2
  • Neurofibromin 3

External Ids for NF1 Gene

Previous GeneCards Identifiers for NF1 Gene

  • GC17M029610
  • GC17P031329
  • GC17P029271
  • GC17P029567
  • GC17P026446
  • GC17P029421
  • GC17P025632

Summaries for NF1 Gene

Entrez Gene Summary for NF1 Gene

  • This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for NF1 Gene

NF1 (Neurofibromin 1) is a Protein Coding gene. Diseases associated with NF1 include neurofibromatosis and neurofibromatosis, familial spinal. Among its related pathways are MAPK signaling pathway and Ras signaling pathway.

UniProtKB/Swiss-Prot for NF1 Gene

  • Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.

Gene Wiki entry for NF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NF1 Gene

Genomics for NF1 Gene

Regulatory Elements for NF1 Gene

Transcription factor binding sites by QIAGEN in the NF1 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NF1 Gene

31,045,488 bp from pter
31,382,116 bp from pter
336,629 bases
Plus strand

Genomic View for NF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NF1 Gene

Proteins for NF1 Gene

  • Protein details for NF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • O00662
    • Q14284
    • Q14930
    • Q14931
    • Q9UMK3

    Protein attributes for NF1 Gene

    2839 amino acids
    Molecular mass:
    319372 Da
    Quaternary structure:
    • Interacts with HTR6 (PubMed:23027611).
    • Sequence=AAA59923.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NF1 Gene

    Alternative splice isoforms for NF1 Gene

neXtProt entry for NF1 Gene

Proteomics data for NF1 Gene at MOPED

Post-translational modifications for NF1 Gene

  • Ubiquitination at Lys1517
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for NF1 Gene

Domains for NF1 Gene

Graphical View of Domain Structure for InterPro Entry



  • P21359
  • Binds phospholipids via its C-terminal CRAL-TRIO domain. Binds primarily glycerophospholipids with monounsaturated C18:1 and/or C16:1 fatty acid moieties and a phosphatidylethanolamine or phosphatidylcholine headgroup. Has lesser affinity for lipids containing phosphatidylserine and phosphatidylinositol.
  • Contains 1 CRAL-TRIO domain.
  • Contains 1 Ras-GAP domain.
genes like me logo Genes that share domains with NF1: view

No data available for Gene Families for NF1 Gene

Function for NF1 Gene

Molecular function for NF1 Gene

GENATLAS Biochemistry:
neurofibromin,Ras GTPase activating protein related (280kDa),signal transduction),with at least four alternatively spliced transcripts,with a developmental and tissue specific regulation of expression,also a mRNA editing site in exon 23 creating an in-frame codon stop,putatively involved in suppression of NF1 tumor and in juvenile myelomonocytic leukemia
UniProtKB/Swiss-Prot Function:
Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity.

Gene Ontology (GO) - Molecular Function for NF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA 1568247
GO:0005488 binding --
GO:0005515 protein binding IPI 11356864
GO:0008429 phosphatidylethanolamine binding IDA 17187824
GO:0031210 phosphatidylcholine binding IDA 17187824
genes like me logo Genes that share ontologies with NF1: view
genes like me logo Genes that share phenotypes with NF1: view

Animal Models for NF1 Gene

MGI Knock Outs for NF1:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NF1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NF1 Gene

Localization for NF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NF1 Gene

Nucleus. Nucleus, nucleolus.

Subcellular locations from

Jensen Localization Image for NF1 Gene COMPARTMENTS Subcellular localization image for NF1 gene
Compartment Confidence
cytosol 3
nucleus 3
plasma membrane 3
cytoskeleton 2
extracellular 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for NF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005634 nucleus ISS 1550670
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm ISS 1550670
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with NF1: view

Pathways for NF1 Gene

genes like me logo Genes that share pathways with NF1: view

PCR Array Products

Gene Ontology (GO) - Biological Process for NF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade ISS --
GO:0001649 osteoblast differentiation ISS --
GO:0001656 metanephros development ISS --
GO:0001666 response to hypoxia ISS --
GO:0001889 liver development ISS --
genes like me logo Genes that share ontologies with NF1: view

Compounds for NF1 Gene

(35) Novoseek inferred chemical compound relationships for NF1 Gene

Compound -log(P) Hits PubMed IDs
mantgtp 61.7 1
gtp 58.7 25
gdp 38.3 6
guanosine 34.3 8
rapamycin 24.3 4
genes like me logo Genes that share compounds with NF1: view

Transcripts for NF1 Gene

Unigene Clusters for NF1 Gene

Neurofibromin 1:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NF1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: - -
SP3: -
SP4: -

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32

Relevant External Links for NF1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NF1 Gene

mRNA expression in normal human tissues for NF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for NF1 Gene

This gene is overexpressed in Liver (27.9) and Frontal cortex (11.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NF1 Gene

SOURCE GeneReport for Unigene cluster for NF1 Gene Hs.113577

mRNA Expression by UniProt/SwissProt for NF1 Gene

Tissue specificity: Detected in brain, peripheral nerve, lung, colon and muscle.
genes like me logo Genes that share expressions with NF1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Expression partners for NF1 Gene

Orthologs for NF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NF1 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia NF1 35
  • 94.97 (n)
  • 99.43 (a)
NF1 36
  • 99 (a)
(Mus musculus)
Mammalia Nf1 35
  • 91.58 (n)
  • 98.49 (a)
Nf1 16
Nf1 36
  • 98 (a)
(Pan troglodytes)
Mammalia NF1 35
  • 99.81 (n)
  • 99.96 (a)
NF1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Nf1 35
  • 91.33 (n)
  • 98.62 (a)
(Bos Taurus)
Mammalia NF1 36
  • 97 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 93 (a)
-- 36
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia NF1 36
  • 80 (a)
(Gallus gallus)
Aves NF1 35
  • 83.83 (n)
  • 95.52 (a)
NF1 36
  • 95 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 94 (a)
-- 36
  • 84 (a)
-- 36
  • 93 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia nf1 35
  • 79.61 (n)
  • 92.09 (a)
(Danio rerio)
Actinopterygii nf1b 35
  • 74.7 (n)
  • 88.36 (a)
wufe06d03 35
nf1a 36
  • 86 (a)
nf1b 36
  • 88 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nf1 37
  • 55 (a)
Nf1 35
  • 58.13 (n)
  • 60.43 (a)
Nf1 36
  • 56 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003140 35
  • 57.42 (n)
  • 61.45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IRA1 36
  • 14 (a)
IRA2 36
  • 14 (a)
IRA2 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
-- 36
  • 43 (a)
Species with no ortholog for NF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NF1 Gene

Gene Tree for NF1 (if available)
Gene Tree for NF1 (if available)

Paralogs for NF1 Gene

genes like me logo Genes that share paralogs with NF1: view

No data available for Paralogs for NF1 Gene

Variants for NF1 Gene

Sequence variations from dbSNP and Humsavar for NF1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs9844 -- 31,377,450(-) GGCCC(A/G)GATGG utr-variant-3-prime
rs490617 -- 31,045,680(+) AACCC(C/T)ATGCC intron-variant
rs509463 -- 31,043,973(+) AAGGA(C/T)AGAAA upstream-variant-2KB
rs511244 -- 31,044,162(+) CTGAC(A/G)ATACA upstream-variant-2KB
rs580648 -- 31,346,109(-) GTCTC(C/T)GTTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NF1 Gene

Variant ID Type Subtype PubMed ID
nsv908057 CNV Gain 21882294
dgv3141n71 CNV Loss 21882294
nsv908059 CNV Loss 21882294
nsv522495 CNV Loss 19592680
esv21835 CNV Loss 19812545
nsv833413 CNV Gain+Loss 17160897
nsv514834 CNV Complex 21397061
esv1000588 CNV Loss 20482838
nsv827944 CNV Loss 20364138
esv1001800 CNV Loss 20482838
esv25044 CNV Gain 19812545
nsv827945 CNV Gain 20364138
nsv514835 CNV Complex 21397061
esv990886 CNV Loss 20482838
esv29223 CNV Loss 19812545
nsv512483 CNV Loss 21212237
esv2715817 CNV Deletion 23290073
esv3891 CNV Deletion 18987735
esv991002 CNV Deletion 20482838
esv2665363 CNV Deletion 23128226
esv8375 CNV Loss 19470904
esv2743057 CNV Deletion 23290073

Relevant External Links for NF1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

PCR Panel Products

  • Copy Number PCR Panels: for NF1
  • Site Specific Cancer Mutation PCR Panels

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NF1 Gene

Disorders for NF1 Gene

(5) OMIM Diseases for NF1 Gene (613113)


  • Neurofibromatosis 1 (NF1) [MIM:162200]: A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. {ECO:0000269 PubMed:10220149, ECO:0000269 PubMed:10336779, ECO:0000269 PubMed:10607834, ECO:0000269 PubMed:10712197, ECO:0000269 PubMed:10980545, ECO:0000269 PubMed:11258625, ECO:0000269 PubMed:11735023, ECO:0000269 PubMed:11857752, ECO:0000269 PubMed:12522551, ECO:0000269 PubMed:12552569, ECO:0000269 PubMed:12746402, ECO:0000269 PubMed:1302608, ECO:0000269 PubMed:15060124, ECO:0000269 PubMed:15146469, ECO:0000269 PubMed:15520408, ECO:0000269 PubMed:15523642, ECO:0000269 PubMed:15948193, ECO:0000269 PubMed:17160901, ECO:0000269 PubMed:2114220, ECO:0000269 PubMed:21838856, ECO:0000269 PubMed:23758643, ECO:0000269 PubMed:24413922, ECO:0000269 PubMed:7981679, ECO:0000269 PubMed:8081387, ECO:0000269 PubMed:8544190, ECO:0000269 PubMed:8807336, ECO:0000269 PubMed:8834249, ECO:0000269 PubMed:9003501, ECO:0000269 PubMed:9101300, ECO:0000269 PubMed:9150739, ECO:0000269 PubMed:9298829, ECO:0000269 PubMed:9668168}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Watson syndrome (WS) [MIM:193520]: A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. It is considered as an atypical form of neurofibromatosis. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Familial spinal neurofibromatosis (FSNF) [MIM:162210]: Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors. {ECO:0000269 PubMed:11704931}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]: Characterized by manifestations of both NF1 and Noonan syndrome (NS). NS is a disorder characterized by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay, and a bleeding diathesis. {ECO:0000269 PubMed:12707950, ECO:0000269 PubMed:16380919, ECO:0000269 PubMed:19845691}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene represented in this entry may be involved in disease pathogenesis.

(92) Novoseek inferred disease relationships for NF1 Gene

Disease -log(P) Hits PubMed IDs
neurofibromatosis type 1 97.1 120
neurofibroma 91 65
neurofibromatosis 89.5 48
neurofibroma plexiform 83.5 6
cafe-au-lait spots 83.1 6

Genatlas disease for NF1 Gene

neurofibromatosis 1 (von Recklinghausen disease),characterized by cafe au lait spots,axillary freckling,Lisch nodules of the iris,multiple neurofibromas,tibial pseudarthrosis and a predisposition to certain benign and malignant tumors of the central and peripheral nervous system,with a variable expression even among relatives with the same mutation and apparently an earlier onset or a more severe form associated with deletions,including neurofibrosarcoma (see TSG17C),Watson disease (cafe au lait spots with pulmonic stenosis)

Relevant External Links for NF1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with NF1: view

Publications for NF1 Gene

  1. NF1 gene analysis based on DHPLC. (PMID: 12552569) De Luca A. … Dallapiccola B. (Hum. Mutat. 2003) 3 4 23 48
  2. Evaluation of NF2 and NF1 tumor suppressor genes in distinctive gastrointestinal nerve sheath tumors traditionally diagnosed as benign schwannomas: s study of 20 cases. (PMID: 13679444) Lasota J. … Miettinen M. (Lab. Invest. 2003) 3 23 48
  3. Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1). (PMID: 9668168) Klose A. … Nuernberg P. (Hum. Mol. Genet. 1998) 3 4 23
  4. NF1 mutations and clinical spectrum in patients with spinal neurofibromas. (PMID: 12746402) Kluwe L. … Mautner V.F. (J. Med. Genet. 2003) 3 4 23
  5. Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience. (PMID: 17102080) Korpershoek E. … Dinjens W.N. (Ann. N. Y. Acad. Sci. 2006) 3 23 48

Products for NF1 Gene

Sources for NF1 Gene

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