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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NF1 Gene

protein-coding   GIFtS: 69
GCID: GC17P029421

Neurofibromin 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Neurofibromin 11 2     neurofibromatosis1
Neurofibromatosis-Related Protein NF-12 3     Von Recklinghausen Disease1
NFNS2 5     Watson Disease1
VRNF2 5     neurofibromin2
WSS2 5     

External Ids:    HGNC: 77651   Entrez Gene: 47632   Ensembl: ENSG000001967127   OMIM: 6131135   UniProtKB: P213593   

Export aliases for NF1 gene to outside databases

Previous GC identifers: GC17M029610 GC17P031329 GC17P029271 GC17P029567 GC17P026446 GC17P025632


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 neurofibroma, and among its related super-pathways are MAPK signaling pathway and Development VEGF signaling via VEGFR2 - generic cascades. GO annotations related to this gene include protein binding and Ras GTPase activator activity.

UniProtKB/Swiss-Prot: NF1_HUMAN, P21359
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 Wiki entry for NF1 (Neurofibromin 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010799.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NF1 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q11.2   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17q11.2

NF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NF1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P029421:  view genomic region     (about GC identifiers)

Start:
29,421,945 bp from pter      End:
29,709,134 bp from pter
Size:
287,190 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NF1_HUMAN, P21359 (See protein sequence)
Recommended Name: Neurofibromin  
Size: 2839 amino acids; 319372 Da
Rna editing: Modified_positions=1306; Note=The stop codon (UGA) at position 1306 is created by RNA editing.
Various levels of RNA editing occurs in peripheral nerve-sheath tumor samples (PNSTs) from patients with NF1.
Preferentially observed in transcripts containing exon 23A
Caution: Was originally (PubMed:8807336) thought to be associated with LEOPARD (LS), an autosomal dominant
syndrome
Sequence caution: Sequence=AAA59923.1; Type=Erroneous initiation;
6 PDB 3D structures from and Proteopedia for NF1:
1NF1 (3D)        2D4Q (3D)        2E2X (3D)        3P7Z (3D)        3PEG (3D)        3PG7 (3D)    
Secondary accessions: O00662 Q14284 Q14930 Q14931 Q9UMK3
Alternative splicing: 5 isoforms:  P21359-1   P21359-2   P21359-3   P21359-4   P21359-5   

Explore the universe of human proteins at neXtProt for NF1: NX_P21359

Explore proteomics data for NF1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P21359

  • NF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NF1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000258.1  NP_001035957.1  NP_001121619.1  

    ENSEMBL proteins: 
     ENSP00000351015   ENSP00000348498   ENSP00000412921   ENSP00000462408   ENSP00000467284  
     ENSP00000463682   ENSP00000389907   ENSP00000463819   ENSP00000462157   ENSP00000467080  
     ENSP00000462700   ENSP00000464678   ENSP00000464702   ENSP00000465138   ENSP00000396481  
     ENSP00000398991  

    Human Recombinant Protein Products for NF1: 
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    Novus Biologicals NF1 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NF1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ISS1550670
    GO:0005737cytoplasm ISS1550670
    GO:0030424axon IDA1550670
    GO:0030425dendrite IDA1550670

    NF1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for NF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR001936 RasGAP
     IPR011989 ARM-like
     IPR008936 Rho_GTPase_activation_prot
     IPR001251 CRAL-TRIO_dom
     IPR023152 RasGAP_CS

    Graphical View of Domain Structure for InterPro Entry P21359

    ProtoNet protein and cluster: P21359

    2 Blocks protein domains:
    IPB001251 Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)
    IPB001936 Ras GTPase-activating protein


    UniProtKB/Swiss-Prot: NF1_HUMAN, P21359
    Similarity: Contains 1 CRAL-TRIO domain
    Similarity: Contains 1 Ras-GAP domain


    NF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NF1_HUMAN, P21359
    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

         Genatlas biochemistry entry for NF1:
    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

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity ----
    GO:0005099Ras GTPase activator activity IDA1568247
    GO:0005488binding ----
    GO:0005515protein binding IPI11356864
         
    NF1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for NF1:
     Decreased sensitivity to pacli  Increased cell number in G1, s  Stronger migration  Synthetic lethal with Ras 

         15/24 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Nf1) (see all 24):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 

    NF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NF1: Nf1tm1Fcr Nf1tm2Tyj Nf1tm1Cbr Nf1tm1Tyj Nf1tm1.1Par

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NF1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NF1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NF1 

    miRNA
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    miRTarBase miRNAs that target NF1:
    hsa-mir-10b (MIRT005504)

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    8/100 QIAGEN miScript miRNA Assays for microRNAs that regulate NF1 (see all 100):
    hsa-miR-411* hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-15a hsa-miR-128 hsa-miR-3074-3p hsa-miR-30d hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidNF1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NF1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NF1 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50
    2Development VEGF signaling via VEGFR2 - generic cascades
    Development VEGF signaling via VEGFR2 - generic cascades0.75
    Development VEGF signaling and activation0.75
    3G-protein signaling TC21 regulation pathway
    G-protein signaling M-RAS regulation pathway0.71
    G-protein signaling TC21 regulation pathway0.71
    4Rho Family GTPases
    Molecular Mechanisms of Cancer0.51
    5Glioma
    Signaling Pathways in Glioblastoma0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 EMD Millipore Pathways for NF1
        Development VEGF signaling and activation
    G-protein signaling M-RAS regulation pathway
    G-protein signaling TC21 regulation pathway
    Development VEGF signaling via VEGFR2 - generic cascades

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NF1
        Molecular Mechanisms of Cancer
    Glioblastoma Multiforme

    4 GeneGo (Thomson Reuters) Pathways for NF1
        G-protein signaling TC21 regulation pathway
    G-protein signaling M-RAS regulation pathway
    Development VEGF signaling via VEGFR2 - generic cascades
    Development VEGF signaling and activation

    5/7 BioSystems Pathways for NF1 (see all 7)
        MAPK signaling pathway
    Integrated Breast Cancer Pathway
    Signaling Pathways in Glioblastoma
    pilocytic astrocytoma
    ATF-2 transcription factor network


    1         Kegg Pathway  (Kegg details for NF1):
        MAPK signaling pathway


    NF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/575 Interacting proteins for NF1 (P213591, 2, 3 ENSP000003510154) via UniProtKB, MINT, STRING, and/or I2D (see all 575)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050671, 3, ENSP000002849814EBI-1172917,EBI-77613 I2D: score=3 STRING: ENSP00000284981
    YWHAEP622582, 3MINT-7947479 I2D: score=1 
    SUMO1P631652, 3, ENSP000003760764MINT-3380416 MINT-7947479 I2D: score=1 STRING: ENSP00000376076
    SDC2P347411, 3, ENSP000003070464EBI-1172917,EBI-1172957 I2D: score=3 STRING: ENSP00000307046
    GRIN1Q055863, ENSP000003606164I2D: score=3 STRING: ENSP00000360616
    About this table

    Gene Ontology (GO): 5/65 biological process terms (GO ID links to tree view) (see all 65):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade ISS--
    GO:0001649osteoblast differentiation ISS--
    GO:0001656metanephros development ISS--
    GO:0001666response to hypoxia ISS--
    GO:0001889liver development ISS--

    NF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NF1

    10/35 Novoseek inferred chemical compound relationships for NF1 gene (see all 35)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mantgtp 61.7 1 12667087 (1)
    gtp 58.7 34 8262937 (2), 12667087 (2), 8626511 (2), 8437847 (2) (see all 21)
    gdp 38.3 9 8437847 (2), 8658179 (1), 10555980 (1), 12667087 (1) (see all 5)
    guanosine 34.3 10 1496380 (1), 8658179 (1), 9589427 (1), 8302341 (1) (see all 8)
    rapamycin 24.3 7 19634141 (1), 20154675 (1), 16267007 (1), 18316617 (1)
    succinate 13.7 1 17102089 (1)
    retinoic acid 12.3 3 9619634 (2), 7576949 (1)
    phosphatidylinositol 11.4 2 18271718 (1), 10398103 (1)
    tyrosine 7.37 9 16914719 (3), 15467451 (1), 17348023 (1), 16467864 (1) (see all 7)
    nacl 5.61 2 8262937 (1), 7887472 (1)

    Search CenterWatch for drugs/clinical trials and news about NF1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NF1 gene (3 alternative transcripts): 
    NM_000267.3  NM_001042492.2  NM_001128147.2  

    Unigene Cluster for NF1:

    Neurofibromin 1
    Hs.113577  [show with all ESTs]
    Unigene Representative Sequence: NM_001042492
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000487476(uc002hge.2) ENST00000358273(uc002hgg.3) ENST00000356175(uc002hgh.3 uc010cso.3)
    ENST00000431387(uc002hgf.2) ENST00000579081 ENST00000489712 ENST00000495910(uc010csn.2)
    ENST00000490416 ENST00000456735 ENST00000493220(uc002hgi.1) ENST00000466819
    ENST00000479614 ENST00000581113 ENST00000479536 ENST00000584328 ENST00000581790
    ENST00000471572 ENST00000582892
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    Additional mRNA sequence: 

    AB209336.1 AF055023.1 AF086346.1 AK026658.1 AK289936.1 AK301970.1 AK302063.1 BC144643.1 
    BX648717.1 D12625.1 D42072.1 M38106.1 M38107.1 M60496.1 M60915.1 M61213.1 
    M82814.1 M89914.1 

    24/26 DOTS entries (see all 26):

    DT.91768398  DT.100752198  DT.318104  DT.100752196  DT.97799977  DT.65285211  DT.100752195  DT.100664689 
    DT.91965143  DT.101975503  DT.95286460  DT.97791842  DT.100749793  DT.414179  DT.97771427  DT.120972573 
    DT.120973050  DT.414180  DT.100739552  DT.100749794  DT.75174633  DT.95286423  DT.97796593  DT.75120933 

    24/299 AceView cDNA sequences (see all 299):

    AW082977 BX508304 F03464 D42072 BM142255 AK024873 BG198030 BM013806 
    AI273054 D12625 AW470031 CD244261 M82814 F07187 AA018741 BM479881 
    M38106 BU685798 AI082796 BQ576296 AA534609 BQ013943 AA769233 AA770360 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NF1    About this scheme

    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:                                                


    ECgene alternative splicing isoforms for NF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NF1 expression in normal human tissues (normalized intensities)      NF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NF1 Expression
    About this image


    NF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Spinal Ventral Columns
     
     Heart (Cardiovascular System)
             Atrioventricular Valve Cells Atrioventricular Valves
     
     Breast (Uncategorized)
             breast epithelium   
     
     Epithelium
             breast epithelium   

    See NF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NF1

    SOURCE GeneReport for Unigene cluster: Hs.113577
        SABiosciences Expression via Pathway-Focused PCR Arrays including NF1 (see all 6): 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Oncogenes & Tumor Suppressor Genes in human mouse rat
              Neurogenesis in human mouse rat
              Lung Cancer in human mouse rat
              Neurotrophins & Receptors in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for NF1 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nf11 , 5 neurofibromatosis 11, 5 91.58(n)1
    98.49(a)1
      11 (46.74 cM)5
    180151  NM_010897.21  NP_035027.11 
     793396935 
    chicken
    (Gallus gallus)
    Aves NF11 neurofibromin 1 83.83(n)
    95.52(a)
      396085  XM_415914.3  XP_415914.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    94(a)
    94(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    GL343543.1(186580-194510)
    GL343543.1(78532-97063)
    zebrafish
    (Danio rerio)
    Actinopterygii wufe06d032 Transcribed sequence with moderate similarity to protein more 75.63(n)    57060183 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nf11 , 3 cAMP-mediated signaling RAS GTPase
    activator3
    Neurofibromin 11
    55(a)3
    57.97(n)1
    60.35(a)1
      96F93
    431491  NM_170253.21  NP_733132.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IRA2(YOL081W)4 GTPase-activating protein that negatively regulates more   --   15(171070-180309) 854073  NP_014560.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NF1 gene
    2 SIMAP similar genes for NF1 using alignment to 17 protein entries:     NF1_HUMAN (see all proteins):
    DKFZp686J1293    NF1 gene homologue

    NF1 for paralogs           About GeneDecksing


    9 Pseudogenes.org Pseudogenes for NF1 (see first 5)
    PGOHUM00000239411 PGOHUM00000247700 PGOHUM00000258760 PGOHUM00000246630 PGOHUM00000246642
    PGOHUM00000234871 PGOHUM00000239141 PGOHUM00000246366 PGOHUM00000240308


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5447 SNPs in NF1 are shown (see all 5447)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0355434
    A colorectal cancer sample4--see VAR_0355432 L I mis40--------
    VAR_0324674
    Neurofibromatosis 1 (NF1)4--see VAR_0324672 S R mis40--------
    VAR_0324614
    Neurofibromatosis 1 (NF1)4--see VAR_0324612 D V mis40--------
    VAR_0026654
    Neurofibromatosis 1 (NF1)4--see VAR_0026652 Y N mis40--------
    VAR_0355454
    A breast cancer sample4--see VAR_0355452 G R mis40--------
    VAR_0355444
    A colorectal cancer sample4--see VAR_0355442 P L mis40--------
    VAR_0324744
    Neurofibromatosis 1 (NF1)4--see VAR_0324742 K E mis40--------
    VAR_0026604
    Neurofibromatosis 1 (NF1)4--see VAR_0026602 R W mis40--------
    rs1378545571,2,4
    CNeurofibromatosis 1 (NF1)4 pathogenic129603554(+) AAGCTA/GTAAGT 6 Y C mis10--------
    rs1427127511,2,4
    C,FNeurofibromatosis 1 (NF1)4 untested129612562(+) AAATAC/G/TTGATC 4 V L mis12NA EU 5397

    HapMap Linkage Disequilibrium report for NF1 (29421945 - 29671945 bp, first 250kb of NF1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/22 variations for NF1 (see all 22):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv3891CNV Deletion18987735
    esv2665363CNV Deletion23128226
    esv991002CNV Deletion20482838
    esv2715817CNV Deletion23290073
    esv2743057CNV Deletion23290073
    nsv827944CNV Loss20364138
    esv8375CNV Loss19470904
    esv990886CNV Loss20482838
    nsv512483CNV Loss21212237
    esv21835CNV Loss19812545


    Human Gene Mutation Database (HGMD): NF1

    Locus Specific Mutation Databases (LSDB): NF1
    5/15 SABiosciences Cancer Mutation PCR Assays for NF1 (see all 15):
    Cosmic IdAA Change
    24576p.K1444E
    24444p.R816*
    24443p.R1362*
    24486p.R304*
    24495p.Q514fs*43
    1 SABiosciences Cancer Mutation PCR Array containing NF1:
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    SeqTarget long-range PCR primers for resequencing NF1
    DNA2.0 Custom Variant and Variant Library Synthesis for NF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613113   
    OMIM disorders: 162200  607785  162210  601321  193520  
    UniProtKB/Swiss-Prot: NF1_HUMAN, P21359
  • 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. 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. 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. 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

  • 20/113 diseases for NF1 (see all 113):    About MalaCards
    neurofibromatosis    neurofibroma    plexiform neurofibroma    neurofibromatosis-noonan syndrome
    familial spinal neurofibromatosis    optic pathway glioma    watson syndrome    ring chromosome 22
    familial segmental neurofibromatosis    17q11 microdeletion syndrome    17q11.2 microduplication syndrome    atypical neurofibroma
    legius syndrome    neurofibrosarcoma    juvenile myelomonocytic leukemia    cellular schwannoma
    wdha syndrome    optic nerve glioma    multiple endocrine neoplasia    benign schwannoma

    16 diseases from the University of Copenhagen DISEASES database for NF1:
    Neurofibromatosis     Neurofibroma     Malignant peripheral nerve sheath tumor     Neurilemmoma
    Malignant glioma     Optic nerve glioma     Genetic disorder     Juvenile myelomonocytic leukemia
    Noonan syndrome     Paraganglioma     Meningocele     Gastrointestinal stromal tumor
    Hemangioma     Learning disability     Moyamoya disease     Hydrocephalus

    NF1 for disorders           About GeneDecksing

    10/92 Novoseek inferred disease relationships for NF1 gene (see all 92)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neurofibromatosis type 1 97.1 238 7614817 (3), 9639526 (2), 9713168 (2), 10863097 (2) (see all 99)
    neurofibroma 91 80 15986446 (5), 11159187 (3), 10629698 (3), 17236191 (2) (see all 48)
    neurofibromatosis 89.5 57 8516298 (3), 1293176 (2), 8328449 (2), 9132486 (2) (see all 43)
    neurofibroma plexiform 83.5 7 19414372 (1), 16536802 (1), 17215493 (1), 17551851 (1) (see all 6)
    cafe-au-lait spots 83.1 6 10629698 (2), 8989459 (1), 15947937 (1), 8456833 (1) (see all 5)
    neurofibrosarcoma 81.9 8 8755348 (1), 7519874 (1), 8637706 (1), 10029430 (1) (see all 6)
    mpnst 81.3 26 19414372 (4), 12152785 (4), 11406645 (2), 10812008 (1) (see all 15)
    juvenile myelomonocytic leukemia 81 8 9639526 (2), 17353900 (2), 12393498 (1), 20015894 (1) (see all 8)
    malignant peripheral nerve sheath tumors 80.4 11 10534774 (1), 17348023 (1), 19414372 (1), 9354454 (1) (see all 10)
    watson syndrome 78.1 1 1770531 (1)

    Genatlas disease: NF1
    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)

    GeneTests: NF1
    GeneReviews: NF1
    Genetic Association Database (GAD): NF1
    Human Genome Epidemiology (HuGE) Navigator: NF1 (38 documents)

    Export disorders for NF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NF1 gene, integrated from 9 sources (see all 768):
    (articles sorted by number of sources associating them with NF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NF1 gene analysis based on DHPLC. (PubMed id 12552569)1, 2, 4, 9 De Luca A.... Dallapiccola B. (2003)
    2. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. (PubMed id 16380919)1, 2, 4 De Luca A.... Dallapiccola B. (2005)
    3. Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. (PubMed id 15146469)1, 2, 4 De Luca A.... Dallapiccola B. (2004)
    4. Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. (PubMed id 11258625)1, 2, 4 Messiaen L.M.... Wallace M.R. (1999)
    5. Genomic organization of the neurofibromatosis 1 gene (NF1). (PubMed id 7774960)1, 2, 9 Li Y.... Viskochil D. (1995)
    6. Evaluation of NF2 and NF1 tumor suppressor genes in distinctive gastrointestinal nerve sheath tumors traditionally diagnosed as benign schwannomas: s study of 20 cases. (PubMed id 13679444)1, 4, 9 Lasota J....Miettinen M. (2003)
    7. Evidence for the presence of two amino-terminal isoforms of neurofibromin, a gene product responsible for neurofibromatosis type 1. (PubMed id 7570581)1, 2, 9 Suzuki H.... Shibahara S. (1995)
    8. Somatic mutations in the neurofibromatosis 1 gene in human tumors. (PubMed id 1568247)1, 2, 9 Li Y.... Cawthon R.M. (1992)
    9. Genome wide molecular analysis of minimally different iated acute myeloid leukemia. (PubMed id 19773259)1, 4, 9 Silva F.P....Giphart-Gassler M. (2009)
    10. Denaturing High Performance Liquid Chromatography Detection of SDHB, SDHD, and VHL Germline Mutations in Pheochromocytoma. (PubMed id 19215943)1, 4, 9 Meyer-Rochow G.Y....Benn D.E. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4763 HGNC: 7765 AceView: NF1 Ensembl:ENSG00000196712 euGenes: HUgn4763
    ECgene: NF1 Kegg: 4763 H-InvDB: NF1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NF1 Genetics and Cytogenetics in Oncology and Haematology
    NF1 Genetic Mutation Analysis Consortiumhttp://www.upmc.edu/Neurofibro/NNFFconsortium.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NF1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/nf1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NF1 gene:
    Search GeneIP for patents involving NF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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