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Tbio
NF1
Neurofibromin

Protein Summary
Description
Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000356175
  • ENSP00000348498
  • ENSG00000196712
  • ENST00000358273
  • ENSP00000351015
  • ENST00000431387
  • ENSP00000412921
  • ENST00000487476
  • ENSP00000491589

Symbol
  • WSS
  • NFNS
  • VRNF
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
1
interacting protein
0.98
transcription factor perturbation
0.94
protein domain
0.92
co-expressed gene
0.89


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 5681.9   (req: < 5)
Gene RIFs: 327   (req: <= 3)
Antibodies: 430   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 5681.9   (req: >= 5)
Gene RIFs: 327   (req: > 3)
Antibodies: 430   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 73
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (19)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
sex hormone-binding globulin measurement
6
3
6
98.9
testosterone measurement
2
2
2
94
3
3
2
1.1
92.4
total cholesterol measurement
2
2
2
86
alcohol consumption measurement
4
3
4
85.7
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
sex hormone-binding globulin measurement
6
98.9
testosterone measurement
2
94
2
1.1
92.4
total cholesterol measurement
2
86
alcohol consumption measurement
4
85.7
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
neurofibromin 1
VGNC:9472
454566
Macaque
neurofibromin 1
712911
Mouse
MGI:97306
18015
Rat
RGD:3168
24592
Dog
neurofibromin 1
VGNC:43761
480618
Species
Name
OMA
EggNOG
Inparanoid
Chimp
neurofibromin 1
Macaque
neurofibromin 1
Mouse
Rat
Dog
neurofibromin 1
Protein Structure (6 Structures, 9 AlphaFold Models)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 6
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (32)
Cytokine Signaling in Immune system (R-HSA-1280215)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 15
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cytokine Signaling in Immune system
Reactome
Disease
Reactome
Diseases of signal transduction
Reactome
FLT3 Signaling
Reactome
Immune System
Name
Explore in Pharos
Explore in Source
Cytokine Signaling in Immune system
Disease
Diseases of signal transduction
FLT3 Signaling
Immune System
Protein-Protein Interactions (361)
1 – 10 of 361
OPALIN
Tdark
Novelty: 0.08221612
p_int: 0.99993708
p_ni: 0.00006292
Data Source: BioPlex
CD79B
Tclin
Novelty: 0.00227414
p_int: 0.999902981
p_ni: 0.000097019
Score: 0.167
Data Source: BioPlex,STRINGDB
PTGES2
Tchem
Family: Enzyme
Novelty: 0.01415352
p_int: 0.999751202
p_ni: 0.000248798
Data Source: BioPlex
CA14
Tclin
Family: Enzyme
Novelty: 0.00864764
p_int: 0.999361013
p_ni: 0.000638985
p_wrong: 2e-9
Data Source: BioPlex
TNFSF13B
Tclin
Novelty: 0.00069885
p_int: 0.999269281
p_ni: 0.000730719
p_wrong: 1e-9
Data Source: BioPlex
P4HA3
Tbio
Family: Enzyme
Novelty: 0.03832564
p_int: 0.999090804
p_ni: 0.000909196
Data Source: BioPlex
TPST2
Tbio
Family: Enzyme
Novelty: 0.02551048
p_int: 0.998571395
p_ni: 0.001428605
Data Source: BioPlex
CD226
Tbio
Novelty: 0.00374102
p_int: 0.998083753
p_ni: 0.001916246
p_wrong: 1e-9
Data Source: BioPlex
SCN3B
Tbio
Family: IC
Novelty: 0.0438123
p_int: 0.996896423
p_ni: 0.003103574
p_wrong: 3e-9
Data Source: BioPlex
VSIG1
Tbio
Novelty: 0.15442611
p_int: 0.996681031
p_ni: 0.003318969
Data Source: BioPlex
Publication Statistics
PubMed Score  5681.90

PubMed score by year
PubTator Score  5319.5

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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