NF1 Gene
protein-coding GIFtS : 68
GCID: GC17 P029421
neurofibromin 1
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Aliasesfor NF1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Neurofibromin 1 1 2 Neurofibromatosis-Related Protein NF-12 3 NFNS2 5 VRNF2 5 WSS2 5 Neurofibromin1
Export aliases for NF1 gene to outside databases Previous GC identifers: GC17M029610 GC17P031329 GC17P029271 GC17P029567 GC17P026446 GC17P025632
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Summariesfor NF1 gene (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 : 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) 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)
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Genomic Viewsfor NF1 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 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000017.10 NC_018928.1 NT_010799.15 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the NF1 gene promoter: AML1a Other transcription factors 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) 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
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Proteinsfor NF1 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
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
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
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. Variouslevels 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 Q9UMK3Alternative 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 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P21359 NF1 Protein expression data from MOPED and PaxDb : About this image
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: Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6 ): About this table
NF1 for ontologies About GeneDecksing NF1 Antibody Products: Assay Products for NF1:
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Protein
Domains / Familiesfor NF1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
NF1 for domains About GeneDecksing 5/6 InterPro domains/families (see all 6 ):
Graphical View of Domain Structure for InterPro Entry P21359 ProtoNet protein and cluster: P21359
2 Blocks protein families : 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 domainSimilarity : Contains 1 Ras-GAP domain
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Functionfor NF1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
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 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: 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
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 Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for NF1 (see all 5 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for NF1 (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: NF1 (NM_002236 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NF1 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NF1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NF1
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view) : About this table
NF1 for ontologies About GeneDecksing 4 GenomeRNAi human phenotypes for NF1 :Animal Models: Mouse knock-outs for NF1: Nf1 tm1Fcr Nf1 tm2Tyj Nf1 tm1Cbr Nf1 tm1Tyj Nf1 tm1.1Par 15/23 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Nf1) (see all 23 ):
NF1 for phenotypes About GeneDecksing
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Pathways & Interactionsfor NF1 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/11 super-pathways (see all 11 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 G-protein signaling TC21 regulation pathway 2 Development VEGF signaling via VEGFR2 - generic cascades 3 MAPK signaling pathway 4 pilocytic astrocytoma 5 Integrated Breast Cancer Pathway
Pathway sources See GeneCards unified pathways Show all pathways 4 EMD Millipore Pathways for NF1 2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for NF1 4 GeneGo (Thomson Reuters) Pathways for NF1 5/7 BioSystems Pathways for NF1 (see all 7 ) 1
Kegg Pathway (Kegg details for NF1) :
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)548 Interacting proteins for NF1 (P21359 1 , 2 , 3 ENSP00000351015 4 ) via UniProtKB, MINT, STRING , and/or I2D (see top 5 )Interactant Interaction Details GeneCard External ID(s) APP P05067 1 , 3 , ENSP00000284981 4 EBI-1172917,EBI-77613 I2D:
score=3 STRING: ENSP00000284981 YWHAE P62258 2 , 3 MINT-7947479 I2D:
score=1 SUMO1 P63165 2 , 3 , ENSP00000376076 4 MINT-3380416 MINT-7947479 I2D:
score=1 STRING: ENSP00000376076 SDC2 P34741 1 , 3 , ENSP00000307046 4 EBI-1172917,EBI-1172957 I2D:
score=3 STRING: ENSP00000307046 GRIN1 Q05586 3 , ENSP00000360616 4 I2D:
score=3 STRING: ENSP00000360616 DNAJC7 Q99615 3 , ENSP00000406463 4 I2D:
score=2 STRING: ENSP00000406463 SMARCA4 P51532 3 , ENSP00000350720 4 I2D:
score=2 STRING: ENSP00000350720 TBPL1 P62380 3 , ENSP00000237264 4 I2D:
score=2 STRING: ENSP00000237264 GRIN2B Q13224 3 , ENSP00000279593 4 I2D:
score=1 STRING: ENSP00000279593 GRIN2D O15399 3 , ENSP00000263269 4 I2D:
score=1 STRING: ENSP00000263269 SDC3 O75056 3 , ENSP00000344468 4 I2D:
score=1 STRING: ENSP00000344468 SMAD2 Q15796 3 , ENSP00000262160 4 I2D:
score=1 STRING: ENSP00000262160 SMAD3 P84022 3 , ENSP00000332973 4 I2D:
score=1 STRING: ENSP00000332973 TIRAP P58753 3 , ENSP00000376445 4 I2D:
score=1 STRING: ENSP00000376445 POLR2A P24928 3 , ENSP00000314949 4 I2D:
score=2 STRING: ENSP00000314949 HRAS P01112 3 , ENSP00000309845 4 I2D:
score=4 STRING: ENSP00000309845 MYOG P15173 3 , ENSP00000241651 4 I2D:
score=1 STRING: ENSP00000241651 SMAD4 Q13485 3 , ENSP00000341551 4 I2D:
score=1 STRING: ENSP00000341551 CASK O14936 3 , ENSP00000367408 4 I2D:
score=1 STRING: ENSP00000367408 CDC5L Q99459 2 , ENSP00000360532 4 MINT-7947479 STRING: ENSP00000360532 MAPK3 P27361 3 I2D:
score=1 YWHAB P31946 3 I2D:
score=1 ABCF1 Q8NE71 2 MINT-7947479 ABCF3 Q9NUQ8 2 MINT-7947479 ACTB P60709 2 MINT-7947479 ACTL6A O96019 2 MINT-7947479 ACTR1A P61163 2 MINT-7947479 ACTR2 P61160 2 MINT-7947479 ADNP Q9H2P0 2 MINT-7947479 AHNAK Q09666 2 MINT-7947479 AKAP8 O43823 2 MINT-7947479 ANAPC1 Q9H1A4 2 MINT-7947479 ANAPC2 Q9UJX6 2 MINT-7947479 ANAPC7 Q9UJX3 2 MINT-7947479 ANLN Q9NQW6 2 MINT-7947479 ANXA11 P50995 2 MINT-7947479 AP1B1 Q10567 2 MINT-7947479 ARCN1 P48444 2 MINT-7947479 ARGLU1 Q9NWB6 2 MINT-7947479 ARHGEF1 Q92888 2 MINT-7947479 ARHGEF2 Q92974 2 MINT-7947479 ARID1A O14497 2 MINT-7947479 AURKB Q96GD4 2 MINT-7947479 BAZ1A Q9NRL2 2 MINT-7947479 BCAS2 O75934 2 MINT-7947479 BCLAF1 Q9NYF8 2 MINT-7947479 BID P55957 2 MINT-7947479 BRD2 P25440 2 MINT-7947479 BRD4 O60885 2 MINT-7947479 BRD7 Q9NPI1 2 MINT-7947479 BRD8 Q9H0E9 2 MINT-7947479 BTAF1 O14981 2 MINT-7947479 BUB1 O43683 2 MINT-7947479 BUB1B O60566 2 MINT-7947479 BUB3 O43684 2 MINT-7947479 BZW1 Q7L1Q6 2 MINT-7947479 C22orf28 Q9Y3I0 2 MINT-7947479 C7orf13 Q8NI28 2 MINT-7947479 CAPG P40121 2 MINT-7947479 CAPZA1 P52907 2 MINT-7947479 CARD10 Q9BWT7 2 MINT-7947479 CASC5 Q8NG31 2 MINT-7947479 CCNB1 P14635 2 MINT-7947479 CCT2 P78371 2 MINT-7947479 CCT3 P49368 2 MINT-7947479 CCT4 P50991 2 MINT-7947479 CCT5 P48643 2 MINT-7947479 CCT6A P40227 2 MINT-7947479 CCT7 Q99832 2 MINT-7947479 CCT8 P50990 2 MINT-7947479 CDC16 Q13042 2 MINT-7947479 CDC20 Q12834 2 MINT-7947479 CDC23 Q9UJX2 2 MINT-7947479 CDC27 P30260 2 MINT-7947479 CDC73 Q6P1J9 2 MINT-7947479 CDK9 P50750 2 MINT-7947479 CDKN2AIP Q9NXV6 2 MINT-7947479 CHD1L Q86WJ1 2 MINT-7947479 CHD8 Q9HCK8 2 MINT-7947479 CHEK1 O14757 2 MINT-7947479 CKAP5 Q14008 2 MINT-7947479 CLASP1 Q7Z460 2 MINT-7947479 CLINT1 Q14677 2 MINT-7947479 CNOT10 Q9H9A5 2 MINT-7947479 CNOT3 O75175 2 MINT-7947479 COPA P53621 2 MINT-7947479 COPB1 P53618 2 MINT-7947479 COPB2 P35606 2 MINT-7947479 COPG1 Q9Y678 2 MINT-7947479 COPG2 Q9UBF2 2 MINT-7947479 COPS5 Q92905 2 MINT-7947479 CPSF2 Q9P2I0 2 MINT-7947479 CPSF3 Q9UKF6 2 MINT-7947479 CPSF7 Q8N684 2 MINT-7947479 CSE1L P55060 2 MINT-7947479 CSTF3 Q12996 2 MINT-7947479 CTNND1 O60716 2 MINT-7947479 CUL1 Q13616 2 MINT-7947479 CWC15 Q9P013 2 MINT-7947479 DCTN2 Q13561 2 MINT-7947479 DDB1 Q16531 2 MINT-7947479 DDX17 Q92841 2 MINT-7947479 DDX19A Q9NUU7 2 MINT-7947479 DDX19B Q9UMR2 2 MINT-7947479 DDX39A O00148 2 MINT-7947479 DDX39B Q13838 2 MINT-7947479 DDX3X O00571 2 MINT-7947479 DDX41 Q9UJV9 2 MINT-7947479 DDX42 Q86XP3 2 MINT-7947479 DDX47 Q9H0S4 2 MINT-7947479 DDX5 P17844 2 MINT-7947479 DDX6 P26196 2 MINT-7947479 DEPDC7 Q96QD5 2 MINT-7947479 DFNA5 O60443 2 MINT-7947479 DIAPH1 O60610 2 MINT-7947479 DIDO1 Q9BTC0 2 MINT-7947479 DMAP1 Q9NPF5 2 MINT-7947479 DNAJA1 P31689 2 MINT-7947479 DNM1L O00429 2 MINT-7947479 DNM2 P50570 2 MINT-7947479 DOCK5 Q9H7D0 2 MINT-7947479 DOCK8 Q8NF50 2 MINT-7947479 DRG1 Q9Y295 2 MINT-7947479 DSP P15924 2 MINT-7947479 DTYMK P23919 2 MINT-7947479 DYNC1H1 Q14204 2 MINT-7947479 DYNC1LI1 Q9Y6G9 2 MINT-7947479 DYNC1LI2 O43237 2 MINT-7947479 ECT2 Q9H8V3 2 MINT-7947479 EDC4 Q6P2E9 2 MINT-7947479 EEF1A1 P68104 2 MINT-7947479 EFTUD2 Q15029 2 MINT-7947479 EHD1 Q9H4M9 2 MINT-7947479 EHD4 Q9H223 2 MINT-7947479 EHMT1 Q9H9B1 2 MINT-7947479 EIF2B4 Q9UI10 2 MINT-7947479 EIF2D P41214 2 MINT-7947479 EIF2S3 P41091 2 MINT-7947479 EIF3B P55884 2 MINT-7947479 EIF3G O75821 2 MINT-7947479 EIF3I Q13347 2 MINT-7947479 EIF4A1 P60842 2 MINT-7947479 EIF4A2 Q14240 2 MINT-7947479 EIF4A3 P38919 2 MINT-7947479 EIF4G2 P78344 2 MINT-7947479 EIF5B O60841 2 MINT-7947479 ELAVL1 Q15717 2 MINT-7947479 ELF2 Q15723 2 MINT-7947479 ENAH Q8N8S7 2 MINT-7947479 ENSG00000266714 Q96JP2 2 MINT-7947479 EPB41L3 Q9Y2J2 2 MINT-7947479 EPPK1 P58107 2 MINT-7947479 EPS8L2 Q9H6S3 2 MINT-7947479 ERAL1 O75616 2 MINT-7947479 ERCC1 P07992 2 MINT-7947479 ERCC6L Q2NKX8 2 MINT-7947479 ETF1 P62495 2 MINT-7947479 ETV6 P41212 2 MINT-7947479 EWSR1 Q01844 2 MINT-7947479 EXOC2 Q96KP1 2 MINT-7947479 EXOC4 Q96A65 2 MINT-7947479 EXOC5 O00471 2 MINT-7947479 EXOC7 Q9UPT5 2 MINT-7947479 EXOSC10 Q01780 2 MINT-7947479 FAF1 Q9UNN5 2 MINT-7947479 FAM129B Q96TA1 2 MINT-7947479 FANCD2 Q9BXW9 2 MINT-7947479 FANCI Q9NVI1 2 MINT-7947479 FASN P49327 2 MINT-7947479 FEN1 P39748 2 MINT-7947479 FERMT1 Q9BQL6 2 MINT-7947479 FHOD1 Q9Y613 2 MINT-7947479 FUS P35637 2 MINT-7947479 GAPDH P04406 2 MINT-7947479 GATAD2A Q86YP4 2 MINT-7947479 GCN1L1 Q92616 2 MINT-7947479 GEMIN4 P57678 2 MINT-7947479 GEMIN6 Q8WXD5 2 MINT-7947479 GMPS P49915 2 MINT-7947479 GNAS P63092 2 MINT-7947479 GNB3 P16520 2 MINT-7947479 GOLGB1 Q14789 2 MINT-7947479 GPS2 Q13227 2 MINT-7947479 GTF2I P78347 2 MINT-7947479 GTF3C2 Q8WUA4 2 MINT-7947479 GTF3C5 Q9Y5Q8 2 MINT-7947479 GTPBP1 O00178 2 MINT-7947479 GULP1 Q9UBP9 2 MINT-7947479 HAUS7 Q99871 2 MINT-7947479 HBS1L Q9Y450 2 MINT-7947479 HDAC1 Q13547 2 MINT-7947479 HDAC2 Q92769 2 MINT-7947479 HDLBP Q00341 2 MINT-7947479 HELLS Q9NRZ9 2 MINT-7947479 HIC2 Q96JB3 2 MINT-7947479 HIP1R O75146 2 MINT-7947479 HIRA P54198 2 MINT-7947479 HLTF Q14527 2 MINT-7947479 HNRNPA2B1 P22626 2 MINT-7947479 HNRNPC P07910 2 MINT-7947479 HNRNPF P52597 2 MINT-7947479 HNRNPH1 P31943 2 MINT-7947479 HNRNPK P61978 2 MINT-7947479 HNRNPM P52272 2 MINT-7947479 HNRNPU Q00839 2 MINT-7947479 HSP90AA1 P07900 2 MINT-7947479 HSP90AB1 P08238 2 MINT-7947479 HSP90B1 P14625 2 MINT-7947479 HSPA12A O43301 2 MINT-7947479 HSPA5 P11021 2 MINT-7947479 HSPA6 P17066 2 MINT-7947479 HSPA8 P11142 2 MINT-7947479 HSPB1 P04792 2 MINT-7947479 HSPD1 P10809 2 MINT-7947479 HUWE1 Q7Z6Z7 2 MINT-7947479 IKBKAP O95163 2 MINT-7947479 ILF2 Q12905 2 MINT-7947479 INTS1 Q8N201 2 MINT-7947479 INTS3 Q68E01 2 MINT-7947479 INTS6 Q9UL03 2 MINT-7947479 INTS8 Q75QN2 2 MINT-7947479 IPO5 O00410 2 MINT-7947479 IPO7 O95373 2 MINT-7947479 IPO9 Q96P70 2 MINT-7947479 IQGAP1 P46940 2 MINT-7947479 ITPK1 Q13572 2 MINT-7947479 KANSL1 Q7Z3B3 2 MINT-7947479 KDM1A O60341 2 MINT-7947479 KHDRBS1 Q07666 2 MINT-7947479 KIF11 P52732 2 MINT-7947479 KIF21A Q7Z4S6 2 MINT-7947479 KIF2C Q99661 2 MINT-7947479 KIF4A O95239 2 MINT-7947479 KPNA2 P52292 2 MINT-7947479 KPNB1 Q14974 2 MINT-7947479 LAS1L Q9Y4W2 2 MINT-7947479 LENG9 Q96B70 2 MINT-7947479 LIMS1 P48059 2 MINT-7947479 LMNA P02545 2 MINT-7947479 LMO7 Q8WWI1 2 MINT-7947479 LRRC1 Q9BTT6 2 MINT-7947479 LRRC40 Q9H9A6 2 MINT-7947479 LRWD1 Q9UFC0 2 MINT-7947479 MAD1L1 Q9Y6D9 2 MINT-7947479 MAGEE2 Q8TD90 2 MINT-7947479 MAP2K4 P45985 2 MINT-7947479 MAP2K7 O14733 2 MINT-7947479 MAP7 Q14244 2 MINT-7947479 MARK2 Q7KZI7 2 MINT-7947479 MATR3 P43243 2 MINT-7947479 MDN1 Q9NU22 2 MINT-7947479 MED12 Q93074 2 MINT-7947479 MED12L Q86YW9 2 MINT-7947479 MED16 Q9Y2X0 2 MINT-7947479 MED4 Q9NPJ6 2 MINT-7947479 MELK Q14680 2 MINT-7947479 MPP2 Q14168 2 MINT-7947479 MRE11A P49959 2 MINT-7947479 MSH2 P43246 2 MINT-7947479 MSH6 P52701 2 MINT-7947479 MTA2 O94776 2 MINT-7947479 MTA3 Q9BTC8 2 MINT-7947479 MVP Q14764 2 MINT-7947479 MYBBP1A Q9BQG0 2 MINT-7947479 MYH9 P35579 2 MINT-7947479 MYO15B Q96JP2 2 MINT-7947479 NACC1 Q96RE7 2 MINT-7947479 NAT10 Q9H0A0 2 MINT-7947479 NBN O60934 2 MINT-7947479 NCAPD2 Q15021 2 MINT-7947479 NCAPH Q15003 2 MINT-7947479 NCOR1 O75376 2 MINT-7947479 NDC80 O14777 2 MINT-7947479 NELFB Q8WX92 2 MINT-7947479 NIPBL Q6KC79 2 MINT-7947479 NONO Q15233 2 MINT-7947479 NPM1 P06748 2 MINT-7947479 NRG1 Q02297 2 MINT-7947479 NSF P46459 2 MINT-7947479 NSUN5 Q96P11 2 MINT-7947479 NUDC Q9Y266 2 MINT-7947479 NUDT21 O43809 2 MINT-7947479 NUF2 Q9BZD4 2 MINT-7947479 NUP107 P57740 2 MINT-7947479 NUP155 O75694 2 MINT-7947479 NUP93 Q8N1F7 2 MINT-7947479 ORC2 Q13416 2 MINT-7947479 ORC3 Q9UBD5 2 MINT-7947479 OXSR1 O95747 2 MINT-7947479 PAK4 O96013 2 MINT-7947479 PARP1 P09874 2 MINT-7947479 PARVA Q9NVD7 2 MINT-7947479 PARVB Q9HBI1 2 MINT-7947479 PCBP1 Q15365 2 MINT-7947479 PCBP2 Q15366 2 MINT-7947479 PCNT O95613 2 MINT-7947479 PDLIM7 Q9NR12 2 MINT-7947479 PELO Q9BRX2 2 MINT-7947479 PFKM P08237 2 MINT-7947479 PFKP Q01813 2 MINT-7947479 PHGDH O43175 2 MINT-7947479 PICALM Q13492 2 MINT-7947479 PKN2 Q16513 2 MINT-7947479 PLEC Q15149 2 MINT-7947479 PLK1 P53350 2 MINT-7947479 PLRG1 O43660 2 MINT-7947479 PNN Q9H307 2 MINT-7947479 POLD1 P28340 2 MINT-7947479 POLR1C O15160 2 MINT-7947479 POLR3D P05423 2 MINT-7947479 POLR3E Q9NVU0 2 MINT-7947479 PPFIA1 Q13136 2 MINT-7947479 PPM1D O15297 2 MINT-7947479 PPP1CA P62136 2 MINT-7947479 PPP2R1A P30153 2 MINT-7947479 PRCC Q92733 2 MINT-7947479 PRKDC P78527 2 MINT-7947479 PRPF19 Q9UMS4 2 MINT-7947479 PRPF3 O43395 2 MINT-7947479 PRPF4B Q13523 2 MINT-7947479 PRPF6 O94906 2 MINT-7947479 PRPF8 Q6P2Q9 2 MINT-7947479 PSMC1 P62191 2 MINT-7947479 PSMC2 P35998 2 MINT-7947479 PSMC3 P17980 2 MINT-7947479 PSMC4 P43686 2 MINT-7947479 PSMC5 P62195 2 MINT-7947479 PSMC6 P62333 2 MINT-7947479 PSMD1 Q99460 2 MINT-7947479 PSMD11 O00231 2 MINT-7947479 PSMD12 O00232 2 MINT-7947479 PSMD13 Q9UNM6 2 MINT-7947479 PSMD2 Q13200 2 MINT-7947479 PSMD3 O43242 2 MINT-7947479 PSTPIP2 Q9H939 2 MINT-7947479 PTBP1 P26599 2 MINT-7947479 PTBP2 Q9UKA9 2 MINT-7947479 PTBP3 O95758 2 MINT-7947479 PUM1 Q14671 2 MINT-7947479 RACGAP1 Q9H0H5 2 MINT-7947479 RAD18 Q9NS91 2 MINT-7947479 RAD50 Q92878 2 MINT-7947479 RALY Q9UKM9 2 MINT-7947479 RANBP2 P49792 2 MINT-7947479 RANGAP1 P46060 2 MINT-7947479 RAVER1 Q8IY67 2 MINT-7947479 RBBP4 Q09028 2 MINT-7947479 RBBP5 Q15291 2 MINT-7947479 RBBP7 Q16576 2 MINT-7947479 RBM17 Q96I25 2 MINT-7947479 RBM39 Q14498 2 MINT-7947479 RBM4 Q9BWF3 2 MINT-7947479 RBM45 Q8IUH3 2 MINT-7947479 RBM7 Q9Y580 2 MINT-7947479 RBMX P38159 2 MINT-7947479 RCOR1 Q9UKL0 2 MINT-7947479 RFC2 P35250 2 MINT-7947479 RFC3 P40938 2 MINT-7947479 RFC4 P35249 2 MINT-7947479 RFC5 P40937 2 MINT-7947479 RFX1 P22670 2 MINT-7947479 RFX5 P48382 2 MINT-7947479 RIF1 Q5UIP0 2 MINT-7947479 RNF130 Q86XS8 2 MINT-7947479 RNF17 Q9BXT8 2 MINT-7947479 ROCK2 O75116 2 MINT-7947479 RPL13 P26373 2 MINT-7947479 RPL22 P35268 2 MINT-7947479 RPL24 P83731 2 MINT-7947479 RPL31 P62899 2 MINT-7947479 RPLP0 P05388 2 MINT-7947479 RPS13 P62277 2 MINT-7947479 RPS6KA4 O75676 2 MINT-7947479 RPS6KB2 Q9UBS0 2 MINT-7947479 RUVBL1 Q9Y265 2 MINT-7947479 RUVBL2 Q9Y230 2 MINT-7947479 RXRB P28702 2 MINT-7947479 SART1 O43290 2 MINT-7947479 SCAF8 Q9UPN6 2 MINT-7947479 SCRIB Q14160 2 MINT-7947479 SCYL2 Q6P3W7 2 MINT-7947479 SEC23A Q15436 2 MINT-7947479 SEC24C P53992 2 MINT-7947479 SEH1L Q96EE3 2 MINT-7947479 SENP3 Q9H4L4 2 MINT-7947479 SEPT9 Q9UHD8 2 MINT-7947479 SETX Q7Z333 2 MINT-7947479 SF3A1 Q15459 2 MINT-7947479 SF3A2 Q15428 2 MINT-7947479 SF3A3 Q12874 2 MINT-7947479 SF3B1 O75533 2 MINT-7947479 SF3B14 Q9Y3B4 2 MINT-7947479 SF3B2 Q13435 2 MINT-7947479 SF3B3 Q15393 2 MINT-7947479 SFPQ P23246 2 MINT-7947479 SHC1 P29353 2 MINT-7947479 SHROOM3 Q8TF72 2 MINT-7947479 SIN3A Q96ST3 2 MINT-7947479 SKIV2L2 P42285 2 MINT-7947479 SMARCA5 O60264 2 MINT-7947479 SMARCAD1 Q9H4L7 2 MINT-7947479 SMARCB1 Q12824 2 MINT-7947479 SMARCC1 Q92922 2 MINT-7947479 SMARCC2 Q8TAQ2 2 MINT-7947479 SMARCD1 Q96GM5 2 MINT-7947479 SMARCE1 Q969G3 2 MINT-7947479 SMC1A Q14683 2 MINT-7947479 SMC2 O95347 2 MINT-7947479 SMC3 Q9UQE7 2 MINT-7947479 SMC4 Q9NTJ3 2 MINT-7947479 SMCHD1 A6NHR9 2 MINT-7947479 SMN1 Q16637 2 MINT-7947479 SMN2 Q16637 2 MINT-7947479 SNAPC4 Q5SXM2 2 MINT-7947479 SNRNP200 O75643 2 MINT-7947479 SNRNP40 Q96DI7 2 MINT-7947479 SNRNP70 P08621 2 MINT-7947479 SNRPA P09012 2 MINT-7947479 SNRPA1 P09661 2 MINT-7947479 SNRPD1 P62314 2 MINT-7947479 SNRPD3 P62318 2 MINT-7947479 SNRPE P62304 2 MINT-7947479 SNW1 Q13573 2 MINT-7947479 SNX12 Q9UMY4 2 MINT-7947479 SNX2 O60749 2 MINT-7947479 SOGA2 Q9Y4B5 2 MINT-7947479 SPATA5 Q8NB90 2 MINT-7947479 SPEN Q96T58 2 MINT-7947479 SPTAN1 Q13813 2 MINT-7947479 SPTBN1 Q01082 2 MINT-7947479 SREK1 Q8WXA9 2 MINT-7947479 SRP54 P61011 2 MINT-7947479 SRP68 Q9UHB9 2 MINT-7947479 SRP72 O76094 2 MINT-7947479 SRRM1 Q8IYB3 2 MINT-7947479 SRSF1 Q07955 2 MINT-7947479 SRSF4 Q08170 2 MINT-7947479 SRSF7 Q16629 2 MINT-7947479 SSUH2 Q9Y2M2 2 MINT-7947479 STAB1 Q9NY15 2 MINT-7947479 STAG2 Q8N3U4 2 MINT-7947479 STAT3 P40763 2 MINT-7947479 STK24 Q9Y6E0 2 MINT-7947479 SUGT1 Q9Y2Z0 2 MINT-7947479 SUPT16H Q9Y5B9 2 MINT-7947479 SYMPK Q92797 2 MINT-7947479 TAF15 Q92804 2 MINT-7947479 TAF5L O75529 2 MINT-7947479 TANC2 Q9HCD6 2 MINT-7947479 TARDBP Q13148 2 MINT-7947479 TBL1XR1 Q9BZK7 2 MINT-7947479 TCP1 P17987 2 MINT-7947479 THAP1 Q9NVV9 2 MINT-7947479 THRAP3 Q9Y2W1 2 MINT-7947479 TIAL1 Q01085 2 MINT-7947479 TLN1 Q9Y490 2 MINT-7947479 TLN2 Q9Y4G6 2 MINT-7947479 TMOD3 Q9NYL9 2 MINT-7947479 TMPO P42166 2 MINT-7947479 TNFAIP2 Q03169 2 MINT-7947479 TNKS1BP1 Q9C0C2 2 MINT-7947479 TNPO1 Q92973 2 MINT-7947479 TPR P12270 2 MINT-7947479 TPX2 Q9ULW0 2 MINT-7947479 TRAP1 Q12931 2 MINT-7947479 TRIM21 P19474 2 MINT-7947479 TRIM28 Q13263 2 MINT-7947479 TRIP13 Q15645 2 MINT-7947479 TRMT1L Q7Z2T5 2 MINT-7947479 TRRAP Q9Y4A5 2 MINT-7947479 TRUB1 Q8WWH5 2 MINT-7947479 TSG101 Q99816 2 MINT-7947479 TUBA1C Q9BQE3 2 MINT-7947479 TUBA4A P68366 2 MINT-7947479 TUBB P07437 2 MINT-7947479 TUBB4B P68371 2 MINT-7947479 TUBG1 P23258 2 MINT-7947479 TUBGCP2 Q9BSJ2 2 MINT-7947479 TUBGCP3 Q96CW5 2 MINT-7947479 TUBGCP4 Q9UGJ1 2 MINT-7947479 TWF1 Q12792 2 MINT-7947479 U2AF1 Q01081 2 MINT-7947479 U2AF2 P26368 2 MINT-7947479 U2SURP O15042 2 MINT-7947479 UBA5 Q9GZZ9 2 MINT-7947479 UBE2M P61081 2 MINT-7947479 UBE2N P61088 2 MINT-7947479 UBE2S Q16763 2 MINT-7947479 UBL4A P11441 2 MINT-7947479 UBN1 Q9NPG3 2 MINT-7947479 UCHL5 Q9Y5K5 2 MINT-7947479 UMPS P11172 2 MINT-7947479 UNC45A Q9H3U1 2 MINT-7947479 UPF1 Q92900 2 MINT-7947479 UPF2 Q9HAU5 2 MINT-7947479 USO1 O60763 2 MINT-7947479 USP10 Q14694 2 MINT-7947479 USP24 Q9UPU5 2 MINT-7947479 USP39 Q53GS9 2 MINT-7947479 VIM P08670 2 MINT-7947479 VPS33A Q96AX1 2 MINT-7947479 VPS33B Q9H267 2 MINT-7947479 VPS36 Q86VN1 2 MINT-7947479 VPS51 Q9UID3 2 MINT-7947479 WDR18 Q9BV38 2 MINT-7947479 WDR33 Q9C0J8 2 MINT-7947479 WRNIP1 Q96S55 2 MINT-7947479 XPO5 Q9HAV4 2 MINT-7947479 XRN2 Q9H0D6 2 MINT-7947479 YEATS4 O95619 2 MINT-7947479 YLPM1 P49750 2 MINT-7947479 ZBTB7C A1YPR0 2 MINT-7947479 ZC3HC1 Q86WB0 2 MINT-7947479 ZNF638 Q14966 2 MINT-7947479 UBR4 ENSP00000364403 4 STRING: ENSP00000364403 SIRT7 ENSP00000329466 4 STRING: ENSP00000329466 UBC ENSP00000344818 4 STRING: ENSP00000344818 -- C9JW42 2 MINT-7947479 -- Q8WU30 2 MINT-7947479 -- O95766 2 MINT-7947479 -- Q13051 2 MINT-7947479 -- Q7Z48 M 2 MINT-7947479 -- Q8TEF1 2 MINT-7947479 -- ENSP00000323063 4 MINT-7947479 STRING: ENSP00000323063 -- O60289 2 MINT-7947479 -- Q9NVY6 2 MINT-7947479 -- Q9NXK9 2 MINT-7947479 -- Q86TR8 2 MINT-7947479 -- Q7Z6R0 2 MINT-7947479 -- Q13344 2 MINT-7947479 -- ENSP00000277916 4 MINT-7947479 STRING: ENSP00000277916 -- Q8N8M9 2 MINT-7947479 -- Q9H6S7 2 MINT-7947479 -- XP_290345 2 MINT-7947479 -- Q13727 2 MINT-7947479 -- Q9UNL7 2 MINT-7947479 -- O43209 2 MINT-7947479 -- Q8N1C0 2 MINT-7947479 -- A8K9D9 2 MINT-7947479 -- Q8N274 2 MINT-7947479 -- Q8N5H6 2 MINT-7947479 -- XP_039702 2 MINT-7947479 -- Q96PK2 2 MINT-7947479 -- Q9HBD4 2 MINT-7947479 -- Q9NXD3 2 MINT-7947479 -- Q9Y2L0 2 MINT-7947479 -- Q1424 E 2 MINT-7947479 -- Q9BTU2 2 MINT-7947479
About this table Gene Ontology (GO): 5/64 biological process terms (GO ID links to tree view) (see all 64 ): About this table
NF1 for ontologies About GeneDecksing
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Drugs & Compoundsfor NF1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , 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 Tocris compounds for NF1 10/35 Novoseek 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
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Transcriptsfor NF1 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
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 ,
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 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for NF1 (see all 5 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for NF1 (see all 3 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: NF1 (NM_002236 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NF1 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NF1
Additional cDNA 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 ):
AL120050 AI244300 AA885527 BX118883 M82814 AI273054 D42072 BM013806 AA770360 BM683129 AW173779 T81221 CD244261 M60915 AA749036 CB243676 D12625 AA917437 M38107 BQ007653 BM504583 BP350476 AA744370 BU619171 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
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Expression for NF1 gene
(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) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image NF1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Heart Atrioventricular Valves Atrioventricular Valve Cells Endocardium, Myocardium Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
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 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for NF1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat NF1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat NF1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat NF1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NF1
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Orthologsfor NF1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for NF1 gene from 3/21 species (see all 21 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
NF11
neurofibromin 1
83.83(n) 95.52(a)
 
396085 XM_415914.3 XP_415914.2
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 43149 1 NM_170253.2 1 NP_733132.2 1
ENSEMBL Gene Tree for NF1 (if available)TreeFam Gene Tree for NF1 (if available)
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Paralogsfor NF1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.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 5/9 Pseudogenes.org Pseudogenes for NF1 (see all 9 )PGOHUM00000239411 PGOHUM00000247700 PGOHUM00000258760 PGOHUM00000246630 PGOHUM00000246642
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Genomic Variantsfor NF1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , 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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 17 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for NF1 (29421945 - 29671945 bp, first 250kb of NF1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 8 variations for NF1 4 CNVs : 72861 4999 72862 72860 4 Indels : 40176 42474 61566 34310 Human Gene Mutation Database (HGMD) : NF1 Locus Specific Mutation Databases (LSDB): NF1 5/15 SABiosciences Cancer Mutation PCR Assays for NF1 (see all 15 ):
1 SABiosciences Cancer Mutation PCR Array containing NF1 :
1 SABiosciences qBiomarker Copy Number PCR Array containing NF1 :
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing NF1
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Disorders
/ Diseasesfor NF1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
NF1 for disorders About GeneDecksing OMIM gene information: 613113 OMIM disorders : 162200 607785 162210 601321 193520 UniProtKB/Swiss-Prot: NF1_HUMAN, P21359
Defects in NF1 are the cause of neurofibromatosis type 1 (NF1) [MIM:162200]; also known as von Recklinghausen syndrome. 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 Defects in NF1 are a cause of juvenile myelomonocytic leukemia (JMML) [MIM:607785]. JMML is a pediatric myelodysplastic syndrome that constitutes approximately 30% of childhood cases of myelodysplastic syndrome (MDS) and 2% of leukemia. Germline mutations of NF1 account for the association of JMML with type 1 neurofibromatosis (NF1) Defects in NF1 are the cause of Watson syndrome (WS) [MIM:193520]. WS is characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation. WS is considered as an atypical form of NF1 Defects in NF1 are a cause of familial spinal neurofibromatosis (FSNF) [MIM:162210]. Familial spinal NF is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors Defects in NF1 are a cause of neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321]. NFNS is 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 Defects in NF1 may be a cause of colorectal cancer (CRC) [MIM:114500] 20/110 diseases for NF1 (see all 110 ): About MalaCards cafe-au-lait spots neurofibromatosis juvenile myelomonocytic leukemia watson syndrome myelomonocytic leukemia von hippel-lindau disease li-fraumeni syndrome malignant peripheral nerve sheath tumor familial spinal neurofibromatosis melanoma, desmoplastic neurotrophic multiple endocrine neoplasia neurofibromatosis-noonan syndrome ring chromosome 22 multiple endocrine neoplasia type 2a leukemia optic pathway glioma dental enamel hypoplasia ring chromosomes retinol binding protein tenosynovial giant cell tumor 15 diseases from the University of Copenhagen DISEASES database for NF1 :Neurofibromatosis Neurofibroma Malignant peripheral nerve sheath tumor Malignant glioma Neurilemmoma Optic nerve glioma Genetic disorder Juvenile myelomonocytic leukemia Noonan syndrome Paraganglioma Meningocele Hemangioma Meningioma Learning disability Hydrocephalus 10/92 Novoseek 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 Neurofibromatosis 1 Genetic Association Database (GAD): NF1 Human Genome Epidemiology (HuGE) Navigator: NF1 (38 documents) Export disorders for NF1 gene to outside databases
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Publicationsfor NF1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for NF1 gene, integrated from 9 sources (see all 745 ): (articles sorted by number of sources associating them with NF1) Utopia : connect your pdf to the dynamic world of online information
NF1 gene analysis based on DHPLC. (PubMed id 12552569) 1 , 2 , 4, 9 De Luca A.... Dallapiccola B. (2003) NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. (PubMed id 16380919) 1 , 2 , 4 De Luca A.... Dallapiccola B. (2005) 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) 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) Genomic organization of the neurofibromatosis 1 gene (NF1). (PubMed id 7774960) 1 , 2 , 9 Li Y.... Viskochil D. (1995) 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) 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) Somatic mutations in the neurofibromatosis 1 gene in human tumors. (PubMed id 1568247) 1 , 2 , 9 Li Y.... Cawthon R.M. (1992) NF1 mutations and clinical spectrum in patients with spinal neurofibromas. (PubMed id 12746402) 1 , 2 , 9 Kluwe L.... Mautner V.F. (2003) Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1). (PubMed id 9668168) 1 , 2 , 9 Klose A....Nuernberg P. (1998)
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External Searches for NF1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing NF1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing NF1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing NF1 gene (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
Name Description
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 Consortium http://www.upmc.edu/Neurofibro/NNFFconsortium.htm GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NF1 NIEHS-SNPs http://egp.gs.washington.edu/data/nf1/
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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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Productsfor NF1 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for NF1 OriGene shRNA RFP for NF1 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for NF1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for NF1 OriGene Protein Over-expression Lysate for NF1 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for NF1 OriGene 3'-UTR Clone for NF1 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for NF1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for NF1 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for NF1 OriGene Custom Protein Services for NF1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NF1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing NF1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat NF1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat NF1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat NF1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat NF1
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NF1 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NF1
ThermoFisher Antibody for NF1
Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NF1
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