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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
NF1 4763 neurofibromin 1  17- 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
24475022   2014Cell line : -

Source : Croatian Tumour Bank and Human Tumour Bank.

Sample Type : CRC tumor and normal tissue

No. of Sample : 92

Stage : -

MSI analysis,Methylation-specific PCR,Comparative genomic hybridization,Amplification/Deletion mutation- The most amplified markers were CD248, ERCC6, ERGIC3, GNAS, MMP2, NF1, P2RX7, SFRS6, SLC29A1 and TBX22 and Most deletions were noted for ADAM29, CHL1, CSMD3, FBXW7, GALNS, MMP2, NF1, PRKD1, SMAD4 and TP53.

18592002   2008Cell line : -

Source : Seven hospitals in the Southeast region of Norway.

Sample Type : CRC tumor and normal tissue

No. of Sample : 65

Stage : -

 DNA Amplification and Denaturing HPLC Analysis,Sequencing,Methylation-Specific PCRAmplification/Mutation--

15840687   2005Cell line : -

Source : Shiraz University Hospital, Shiraz, Iran.

Sample Type : CRC tumor and normal tissue

No. of Sample : 27

Stage : TNM Stage I-III

PCR,RFLP analysis,VNTR and LOH analysis,real time RT-PCR,ImmunohistochemistryUp-regulation-NF1 gene may play a role in the development and progression of colon cancer and the NF1 gene may be a potential tumour marker and a new potential target for colon cancer therapy.


Gene Details



NC_000017.10 (29421945..29704695)

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Gene Type protein coding
Gene Family -
Description 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]  
Chromosome 17
Location 17q11.2
Start 29421945  
End 29704695  
Strand +  
Gene Sequence

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Length 282751  
OMIM ID 613113   
HGNC ID HGNC:7765   
Unigene ID Hs.113577   
Ensembl ID ENSG00000196712   
PharmGKB ID PA31572   

mRNA Information


mRNA ID XM_011524853.1
Exon join(1..931,9023..9131,13177..13290,14038..14170, 15734..15888,16505..16554,24554..24634,37538..37677, 64040..64177,148111..148254,151138..151221,155314..155504, 162019..162125,173550..173617,173838..173913, 174636..174793,192550..192723,193165..193287, 193539..193613,195230..195259,198368..198499, 206579..206713,211133..211246,213978..214057, 215572..215695,217223..217378,218563..218812, 219346..219419,219651..219734,221153..221593, 221963..222102,222388..222510,222970..223053, 224201..224317,224828..225009,225130..225341, 227739..227900,228046..228149,241112..241247, 245066..245128,250472..250630,251160..251257, 252497..252643,253839..253985,257357..257467, 317948..318380,319627..319967,322424..  
mRNA Sequence

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Length 13915  



CDS Information


   
Location1831..10395
CDS Sequence

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CCDS ID CCDS11264.1



Protein Information


      
Protein IDXP_011523155.1
Protein Nameneurofibromin 1
Molecular Wt. (Da)68959
Protein Sequence

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Length 2854  
Uniprot IDQ9P2Y5
Ensembl Protein ID ENSP00000348455  



Post-translational Modification Information (Source : HPRD)


Residue Type site
SPhosphorylation2515
SPhosphorylation864
SPhosphorylation2494
SPhosphorylation864
SPhosphorylation2829
SPhosphorylation2808
SPhosphorylation2188
SPhosphorylation2167
SPhosphorylation2515;-
SPhosphorylation2494;-
SPhosphorylation2515;-
YPhosphorylation2476;-
YPhosphorylation2455;-
YPhosphorylation2476;-
SPhosphorylation864
SPhosphorylation2188
SPhosphorylation2495
TPhosphorylation2514
SPhosphorylation2474
TPhosphorylation2493
SPhosphorylation2495
TPhosphorylation2514
SPhosphorylation2496
SPhosphorylation2475
SPhosphorylation2496
SPhosphorylation2521
SPhosphorylation2500
SPhosphorylation2521
SPhosphorylation2523
SPhosphorylation2502
SPhosphorylation2523
SPhosphorylation2543
SPhosphorylation2522
SPhosphorylation2543
SPhosphorylation2597
SPhosphorylation2576
SPhosphorylation2597
YPhosphorylation2577
YPhosphorylation2556
YPhosphorylation2577
KAcetylation1581
KAcetylation1560
KAcetylation1581
SPhosphorylation2817
SPhosphorylation2796
SPhosphorylation2817
TPhosphorylation1456
TPhosphorylation1435
TPhosphorylation1456
TPhosphorylation2507
YPhosphorylation2508
TPhosphorylation2510
TPhosphorylation2486
YPhosphorylation2487
TPhosphorylation2489
TPhosphorylation2507
YPhosphorylation2508
TPhosphorylation2510
SPhosphorylation56
TPhosphorylation59
TPhosphorylation60
SPhosphorylation56
TPhosphorylation59
TPhosphorylation60
SPhosphorylation56
TPhosphorylation59
TPhosphorylation60
SPhosphorylation2819
SPhosphorylation2798
SPhosphorylation2819
SPhosphorylation2802
SPhosphorylation2781
SPhosphorylation2802

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                             
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
351APP100NP_000475.1in vivo16374483   
6383SDC2803NP_002989.2in vitro;in vivo;yeast 2-hybrid11356864   
9519TBPL19272NP_004856.1in vivo15767669   


Pathway Information


            
Pathway Name Pathway ID
MAPK signaling pathway hsa04010
Ras signaling pathway hsa04014


Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd051301198-1551  RasGAP_Neurofibromin
cl025691198-1551  RasGAP superfamily
cd133131728-1837  PH_NF1
cl171711728-1837  PH-like superfamily
cd001701581-1728  SEC14
cl157871581-1728  SEC14 superfamily
cd045191210-1484  RasGAP
cd053921203-1524  RasGAP_Neurofibromin_like
pfam006161256-1451  RasGAP
cd051361237-1513  RasGAP_DAB2IP
cd051281237-1485  RasGAP_GAP1_like
cd051371273-1484  RasGAP_CLA2_BUD2
pfam137161592-1725  CRAL_TRIO_2
cd053911203-1510  RasGAP_p120GAP
cd051321239-1549  RasGAP_GAPA
cd051341202-1484  RasGAP_RASA3
smart005161583-1727  SEC14
cd053941264-1457  RasGAP_RASA2
cd051351208-1481  RasGAP_RASAL
cd051271256-1518  RasGAP_IQGAP_like
cd053951233-1478  RasGAP_RASA4
cd122071242-1562  RasGAP_IQGAP3
cd051331242-1519  RasGAP_IQGAP1
cd051311242-1518  RasGAP_IQGAP2
cd051291239-1473  RasGAP_RAP6
smart003231187-1557  RasGAP
COG52611251-1469  IQG1


Ontology Information


   
HPRD ID1284
Molecular ClassGTPase activating protein
Molecular FunctionGuanyl-nucleotide exchange factor activity (GO:0005085)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO