Protein Summary
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]
- ENST00000356175
- ENSP00000348498
- ENSG00000196712
- ENST00000358273
- ENSP00000351015
- ENST00000431387
- ENSP00000412921
- ENST00000487476
- ENSP00000491589
- WSS
- NFNS
- VRNF
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 | ||
Protein Classes
IDG Development Level Summary
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: 5876.21 (req: < 5)
Gene RIFs: 327 (req: <= 3)
Antibodies: 430 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 5876.21 (req: >= 5)
Gene RIFs: 327 (req: > 3)
Antibodies: 430 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 73
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Expression Data (0 Tissues)
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
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 is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (361)
CD79B
Novelty: 0.00227414
p_int: 0.999902981
p_ni: 0.000097019
Score: 0.167
Data Source: BioPlex,STRINGDB
PTGES2
Family: Enzyme
Novelty: 0.01415352
p_int: 0.999751202
p_ni: 0.000248798
Data Source: BioPlex
CA14
Family: Enzyme
Novelty: 0.00864764
p_int: 0.999361013
p_ni: 0.000638985
p_wrong: 2e-9
Data Source: BioPlex
TNFSF13B
Novelty: 0.00069885
p_int: 0.999269281
p_ni: 0.000730719
p_wrong: 1e-9
Data Source: BioPlex
P4HA3
Family: Enzyme
Novelty: 0.03832564
p_int: 0.999090804
p_ni: 0.000909196
Data Source: BioPlex
TPST2
Family: Enzyme
Novelty: 0.02551048
p_int: 0.998571395
p_ni: 0.001428605
Data Source: BioPlex
CD226
Novelty: 0.00374102
p_int: 0.998083753
p_ni: 0.001916246
p_wrong: 1e-9
Data Source: BioPlex
SCN3B
Family: IC
Novelty: 0.0438123
p_int: 0.996896423
p_ni: 0.003103574
p_wrong: 3e-9
Data Source: BioPlex
Nearest Tclin Targets (4)
Downstream (4)
1 – 4 of 4
Pathways (32)
Reactome (15)
KEGG (3)
PathwayCommons (5)
WikiPathways (9)
Click on a row in the table to change the structure displayed.
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 | ||||
Viral Interactions (0)
Gene Ontology Terms (81)
Functions (3)
Components (8)
Processes (70)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Direct Assay (IDA) | UniProtKB | |||
Disease Associations (null)
GWAS Traits (24)
Items per page:
1 – 5 of 24
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 | 92.8 | |||||
risk-taking behaviour | 2 | 3 | 3 | 87.5 | |||||
testosterone measurement | 2 | 2 | 2 | 83 | |||||
4 | 4 | 2 | 1.1 | 81.5 | |||||
apolipoprotein B measurement | 2 | 2 | 2 | 81 | |||||
Items per page:
1 – 5 of 24
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
sex hormone-binding globulin measurement | 6 | 92.8 | |||||
risk-taking behaviour | 3 | 87.5 | |||||
testosterone measurement | 2 | 83 | |||||
2 | 1.1 | 81.5 | |||||
apolipoprotein B measurement | 2 | 81 | |||||
Find similar targets by:
IDG Resources
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 | |||||
Publication Statistics
PubMed Score 5876.21
PubMed score by year
PubTator Score 5319.50
PubTator score by year
Related Publications
Text Mined References (423)
GeneRif Annotations (327)
Items per page:
0 of 0
PMID | Year | Title |
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