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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
  • Truncated Neurofibromin 1 3
  • Neurofibromatosis 1 3
  • Neurofibromatosis 2
  • Watson Disease 2
  • Neurofibromin 3
  • 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]

CIViC summary for NF1 Gene

GeneCards Summary for NF1 Gene

NF1 (Neurofibromin 1) is a Protein Coding gene. Diseases associated with NF1 include Neurofibromatosis, Type 1 and Neurofibromatosis-Noonan Syndrome. Among its related pathways are RET signaling and G-protein signaling TC21 regulation 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

Additional gene information 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H031548 1.6 Ensembl ENCODE dbSUPER 20.6 +541.9 541928 2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5 ZNF143 FOS UTP6 SUZ12 ZNF207 ENSG00000266490 ATAD5 NF1 LRRC37BP1 SUZ12P1 SH3GL1P2 ENSG00000263990
GH17H030706 1.3 ENCODE dbSUPER 21.5 -299.1 -299082 5 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF207 SP3 SUZ12P1 GOSR1 ATAD5 ENSG00000266490 TEFM NF1 LRRC37BP1 SH3GL1P2 SMURF2P1 ENSG00000265791
GH17H030905 1.2 ENCODE 21.6 -101.4 -101350 2 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A SSRP1 UTP6 SUZ12P1 NF1 GOSR1 NSRP1 ENSG00000266490 RNF135 ATAD5 ENSG00000264456 LRRC37BP1
GH17H030476 1.1 ENCODE 21.8 -530.3 -530304 1 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 NF1 GOSR1 ATAD5 SUZ12P1 RNF135 SH3GL1P2 ENSG00000264456 CORO6 CPD LRRC37BP1
GH17H030697 1.5 Ensembl ENCODE dbSUPER 11.1 -309.8 -309779 1 ARID4B SIN3A GLI4 ZNF2 GTF3C2 ZNF121 ZNF143 ATF7 SP3 REST SUZ12P1 ENSG00000266490 SH3GL1P2 ATAD5 ENSG00000265791 NF1 GOSR1 DPRXP4 RNF135 ENSG00000264456
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000093050 1227 1801 HDGF PKNOX1 SIN3A FEZF1 GLI4 ZNF2 ZNF121 GLIS2 RUNX3 SP3

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

Post-translational modifications for NF1 Gene

  • Ubiquitination at Lys1517
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NF1 (NF1)

No data available for DME Specific Peptides for NF1 Gene

Domains & Families for NF1 Gene

Gene Families for NF1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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.
genes like me logo Genes that share domains with NF1: view

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.

Phenotypes From GWAS Catalog for NF1 Gene

Gene Ontology (GO) - Molecular Function for NF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA,IDA 1568247
GO:0005515 protein binding IPI 11356864
GO:0008289 lipid binding IEA --
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

Human Phenotype Ontology for NF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NF1 Gene

MGI Knock Outs for NF1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NF1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
mitochondrion 3
extracellular 2
cytoskeleton 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS 1550670
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm ISS 1550670
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA,IEA 19946888
genes like me logo Genes that share ontologies with NF1: view

Pathways & Interactions for NF1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Signaling by PTK6
3 Endometrial cancer
4 MAPK signaling pathway
5 Developmental Biology
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: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

Drugs & Compounds for NF1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aminolevulinic acid Approved Pharma 169
Chlorhexidine Approved, Vet_approved Pharma 517
Everolimus Approved Pharma mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1977
Lamotrigine Approved, Investigational Pharma 5-HT inhibitor 187
Lovastatin Approved, Investigational Pharma Competitive, Inhibitor HMG-CoA reductase inhibitor, Potent HMG-CoA reductase inhibitor 67

(14) 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:

CRISPR Products

Inhibitory RNA 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: - -
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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of NF1 Gene:

NF1

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.

Evidence on tissue expression from TISSUES for NF1 Gene

  • Kidney(4.6)
  • Liver(4.6)
  • Nervous system(4.6)
  • Pancreas(3.9)
  • Eye(3.4)
  • Intestine(3.1)
  • Heart(2.9)
  • Muscle(2.8)
  • Skin(2.8)
  • Adrenal gland(2.5)
  • Lung(2.3)
  • Stomach(2.3)
  • Blood(2.2)
  • Bone(2.2)
  • Thyroid gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • parathyroid
  • scalp
  • skull
  • thyroid
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with NF1: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia NF1 33 34
  • 99.81 (n)
cow
(Bos Taurus)
Mammalia NF1 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NF1 33 34
  • 94.97 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Nf1 33 16 34
  • 91.58 (n)
rat
(Rattus norvegicus)
Mammalia Nf1 33
  • 91.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NF1 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NF1 33 34
  • 83.83 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 94 (a)
OneToMany
-- 34
  • 93 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nf1 33
  • 79.61 (n)
zebrafish
(Danio rerio)
Actinopterygii nf1a 34
  • 86 (a)
OneToMany
nf1b 33 34
  • 74.7 (n)
wufe06d03 33
fruit fly
(Drosophila melanogaster)
Insecta Nf1 35 33 34
  • 58.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003140 33
  • 57.42 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IRA1 34
  • 14 (a)
OneToMany
IRA2 34 36
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToMany
-- 34
  • 41 (a)
OneToMany
Species where no ortholog for NF1 was found in the sources mined by GeneCards:
  • 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

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
rs137854550 Pathogenic, Neurofibromatosis 1 (NF1) [MIM:162200], Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] 31,258,500(+) TGTCA(A/G)AGGTG reference, missense
rs137854551 Pathogenic, Neurofibromatosis 1 (NF1) [MIM:162200] 31,337,430(+) ACTTG(A/C)TGTTT reference, missense
rs137854553 Pathogenic, Neurofibromatosis 1 (NF1) [MIM:162200] 31,230,373(+) AGAGA(G/T)GAAAT reference, missense
rs137854554 Pathogenic, Neurofibromatosis 1 (NF1) [MIM:162200] 31,258,406(+) CTCAG(A/T)TTTAT reference, missense
rs137854556 Pathogenic, Neurofibromatosis 1 (NF1) [MIM:162200], Mismatch repair deficient cancer cells, Neurofibromatosis 1 (NF1) [MIM:162200] 31,235,729(+) CTTCC(A/C/G)AGGCA reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1455n106 CNV deletion 24896259
dgv5520n54 CNV loss 21841781
esv1000588 CNV loss 20482838
esv1001800 CNV loss 20482838
esv21835 CNV loss 19812545
esv25044 CNV gain 19812545
esv2665363 CNV deletion 23128226
esv2715817 CNV deletion 23290073
esv2743057 CNV deletion 23290073
esv29223 CNV loss 19812545
esv3326282 CNV insertion 20981092
esv3554310 CNV deletion 23714750
esv3572542 CNV gain 25503493
esv3640360 CNV loss 21293372
esv3640362 CNV loss 21293372
esv3891 CNV loss 18987735
esv8375 CNV loss 19470904
esv990886 CNV loss 20482838
esv991002 CNV deletion 20482838
nsv1061870 CNV loss 25217958
nsv1070822 CNV deletion 25765185
nsv1151043 CNV deletion 26484159
nsv512483 CNV loss 21212237
nsv514834 CNV gain 21397061
nsv514835 CNV gain 21397061
nsv522495 CNV loss 19592680
nsv574667 CNV loss 21841781
nsv574668 CNV loss 21841781
nsv574669 CNV loss 21841781
nsv574670 CNV gain 21841781
nsv574671 CNV gain 21841781
nsv827944 CNV loss 20364138
nsv827945 CNV gain 20364138
nsv833413 CNV gain+loss 17160897
nsv953876 CNV duplication 24416366
nsv960089 CNV duplication 23825009
nsv960460 CNV duplication 23825009
nsv960461 CNV duplication 23825009
nsv960462 CNV duplication 23825009
nsv962306 CNV duplication 23825009
nsv962307 CNV duplication 23825009
nsv978407 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
NF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NF1

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

Disorders for NF1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
neurofibromatosis, type 1
  • neurofibromatosis
neurofibromatosis-noonan syndrome
  • neurofibromatosis with noonan phenotype
neurofibromatosis, familial spinal
  • familial spinal neurofibromatosis
watson syndrome
  • cafe-au-lait spots with pulmonic stenosis
juvenile myelomonocytic leukemia
  • 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:21089070, 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 (Human mutation 2003) 3 4 22 45 60
  2. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. (PMID: 17160901) Upadhyaya M … Messiaen L (American journal of human genetics 2007) 3 4 22 60
  3. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. (PMID: 16380919) De Luca A … Dallapiccola B (American journal of human genetics 2005) 3 4 45 60
  4. Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. (PMID: 15146469) De Luca A … Dallapiccola B (Human mutation 2004) 3 4 45 60
  5. 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 (Laboratory investigation; a journal of technical methods and pathology 2003) 3 22 45 60

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