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Aliases for NF1 Gene

Aliases for NF1 Gene

  • Neurofibromin 1 2 3 5
  • Neurofibromatosis-Related Protein NF-1 3 4
  • Von Recklinghausen Disease 2
  • Neurofibromatosis 2
  • Watson Disease 2
  • NFNS 3
  • VRNF 3
  • WSS 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-noonan syndrome and neurofibromatosis, type 1. Among its related pathways are MAPK signaling pathway and Ras signaling pathway. GO annotations related to this gene include binding and phosphatidylcholine binding.

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

Enhancers for NF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NF1 on UCSC Golden Path with GeneCards custom track

Promoters for NF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NF1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for NF1 Gene

Chromosome:
17
Start:
31,007,873 bp from pter
End:
31,382,116 bp from pter
Size:
374,244 bases
Orientation:
Plus strand

Genomic View for NF1 Gene

Genes around NF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P21359-NF1_HUMAN
    Recommended name:
    Neurofibromin
    Protein Accession:
    P21359
    Secondary Accessions:
    • O00662
    • Q14284
    • Q14930
    • Q14931
    • Q9UMK3

    Protein attributes for NF1 Gene

    Size:
    2839 amino acids
    Molecular mass:
    319372 Da
    Quaternary structure:
    • Interacts with HTR6 (PubMed:23027611).
    SequenceCaution:
    • 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 Lys 1517
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NF1 Gene

Domains & Families for NF1 Gene

Graphical View of Domain Structure for InterPro Entry

P21359

UniProtKB/Swiss-Prot:

NF1_HUMAN :
  • 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.
Domain:
  • 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.
genes like me logo Genes that share phenotypes with NF1: view

Human Phenotype Ontology for NF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NF1 Gene

MGI Knock Outs for NF1:

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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

COMPARTMENTS
Jensen Localization Image for NF1 Gene COMPARTMENTS Subcellular localization image for NF1 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 4
mitochondrion 3
cytoskeleton 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for NF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030425 dendrite IDA 1550670
genes like me logo Genes that share ontologies with NF1: view

Pathways & Interactions for NF1 Gene

SuperPathways for NF1 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 MAPK signaling pathway
3 Developmental Biology
4 Immune System
5 Signaling by PTK6
genes like me logo Genes that share pathways with NF1: view

SIGNOR curated interactions for NF1 Gene

Gene Ontology (GO) - Biological Process for NF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0001649 osteoblast differentiation ISS --
GO:0001656 metanephros development ISS --
GO:0001666 response to hypoxia ISS --
genes like me logo Genes that share ontologies with NF1: view

Drugs & Compounds for NF1 Gene

(77) Drugs for NF1 Gene - From: ClinicalTrials, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aminolevulinic acid Approved Pharma 149
Chlorhexidine Approved Pharma 438
Everolimus Approved Pharma mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1835
Lamotrigine Approved, Investigational Pharma 5-HT inhibitor 181
Lovastatin Approved, Investigational Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor 59

(15) Additional Compounds for NF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NF1: view

Transcripts for NF1 Gene

Unigene Clusters for NF1 Gene

Neurofibromin 1:
Representative Sequences:

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: - -
SP2:
SP3: -
SP4: -
SP5:

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for NF1 Gene

GeneLoc Exon Structure for
NF1
ECgene alternative splicing isoforms for
NF1

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 from HIPED for NF1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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

P21359-NF1_HUMAN
Tissue specificity: Detected in brain, peripheral nerve, lung, colon and muscle.
genes like me logo Genes that share expression patterns with NF1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-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
dog
(Canis familiaris)
Mammalia NF1 35
  • 94.97 (n)
  • 99.43 (a)
NF1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nf1 35
  • 91.58 (n)
  • 98.49 (a)
Nf1 16
Nf1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NF1 35
  • 99.81 (n)
  • 99.96 (a)
NF1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nf1 35
  • 91.33 (n)
  • 98.62 (a)
cow
(Bos Taurus)
Mammalia NF1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 93 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia NF1 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NF1 35
  • 83.83 (n)
  • 95.52 (a)
NF1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 94 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nf1 35
  • 79.61 (n)
  • 92.09 (a)
zebrafish
(Danio rerio)
Actinopterygii nf1b 35
  • 74.7 (n)
  • 88.36 (a)
wufe06d03 35
nf1a 36
  • 86 (a)
OneToMany
nf1b 36
  • 88 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nf1 37
  • 55 (a)
Nf1 35
  • 58.13 (n)
  • 60.43 (a)
Nf1 36
  • 56 (a)
OneToOne
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)
OneToMany
IRA2 36
  • 14 (a)
OneToMany
IRA2 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
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

ENSEMBL:
Gene Tree for NF1 (if available)
TreeFam:
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
rs199474738 Neurofibromatosis 1 (NF1) 31,225,134(+) TTTAC(A/G)GGGTA reference, missense
rs137854566 Neurofibromatosis 1 (NF1), Neurofibromatosis 1 (NF1) 31,229,146(+) CTTCC(C/G/T)TTGTG reference, missense
rs199474786 Neurofibromatosis 1 (NF1) 31,229,308(+) TCGGC(C/T)GTTGT reference, missense
rs137854553 Neurofibromatosis 1 (NF1) 31,230,373(+) AGAGA(G/T)GAAAT reference, missense
rs199474788 Neurofibromatosis 1 (NF1) 31,258,489(+) CTTGA(A/G)GTTAA reference, missense

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

Variation tolerance for NF1 Gene

Residual Variation Intolerance Score: 0.205% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.04; 50.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NF1 Gene

HapMap Linkage Disequilibrium report
NF1
Human Gene Mutation Database (HGMD)
NF1

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

Disorders for NF1 Gene

MalaCards: The human disease database

(100) MalaCards diseases for NF1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neurofibromatosis-noonan syndrome
  • neurofibromatosis with noonan phenotype
neurofibromatosis, type 1
  • neurofibromatosis 1
neurofibromatosis, familial spinal
  • familial spinal neurofibromatosis
watson syndrome
  • cafe-au-lait spots with pulmonic stenosis
leukemia, acute myelomonocytic, somatic, somatic
  • leukemia, juvenile myelomonocytic, somatic
- elite association - COSMIC cancer census association via MalaCards
Search NF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NF1_HUMAN
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Watson syndrome (WTSN) [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.

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)
NF1
Human Genome Epidemiology (HuGE) Navigator
NF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NF1
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 67
  2. Characterisation of the interaction between syndecan-2, neurofibromin and CASK: dependence of interaction on syndecan dimerization. (PMID: 20006588) Volta M. … Roberts R.G. (Biochem. Biophys. Res. Commun. 2010) 3 23
  3. The RasGAP proteins Ira2 and neurofibromin are negatively regulated by Gpb1 in yeast and ETEA in humans. (PMID: 20160012) Phan V.T. … McCormick F. (Mol. Cell. Biol. 2010) 3 23
  4. A retroviral mutagenesis screen reveals strong cooperation between Bcl11a overexpression and loss of the Nf1 tumor suppressor gene. (PMID: 18948576) Yin B. … Largaespada D.A. (Blood 2009) 3 23
  5. Neurofibromatosis type 1 (NF1) tumor suppressor, neurofibromin, regulates the neuronal differentiation of PC12 cells via its associating protein, CRMP-2. (PMID: 18218617) Patrakitkomjorn S. … Araki N. (J. Biol. Chem. 2008) 3 23

Products for NF1 Gene

Sources for NF1 Gene

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