The gene information section lists the gene name (HUGO Gene Nomenclature Committee (HGNC) name if available), any approved gene synonyms, Ensembl gene description, and the Entrez gene summary from the National Center for Biotechnology Information.
The chromosomal and cytoband location of the gene according to Ensembl is reported together with the Ensembl gene identifier and Ensembl database version. The Entrez gene identifier for the gene is also given. If any of the protein products of the gene is linked to a UniProt KB/SWISS-PROT entry, links to the UniProt and the neXtProt databases for these proteins are displayed.
Gene name
NF1
Synonyms
Description
Neurofibromin 1 (HGNC Symbol)
Entrez gene summary
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]
The protein view displays protein features. The tabs at the top of the protein view section can be used to switch between the different splice variants encoded by this gene. The mouse over function displays additional data for the features in the protein view.
At the top of the protein view, the maximum percent sequence identity of the protein to all other proteins from other human genes is shown, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50) (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0 and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Common (purple) and unique (grey) regions between alternative processed transcripts from the same gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
The protein information section displays the alternative protein-coding transcripts (splice variants) encoded by this gene, according to the Ensembl database.
The ENSP identifier links to the Ensembl website for that protein, and the ENST identifier links to the Ensembl website for that transcript. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes to which this protein has been assigned are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column.
The length of the protein (amino acid residues) (according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0 and Phobius and predicted transmembrane region(s) (according to MDM) are also reported.
COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Other Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Other Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Other Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
SCAMPI predicted membrane proteins COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations MEMSAT-SVM predicted membrane proteins Plasma proteins RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Other Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Other Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Other Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Other Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Other Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Other Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Other Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
COSMIC Frameshift Mutations COSMIC Germline Mutations COSMIC Large Deletions COSMIC Missense Mutations COSMIC Nonsense Mutations COSMIC Other Mutations COSMIC Somatic Mutations COSMIC Splicing Mutations RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
