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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins RAS pathway related proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
17
Cytoband
q11.2
Chromosome location (bp)
31094927 - 31382116
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
GTPase activation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Lipid-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein 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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of endocrine organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000165[MAPK cascade] GO:0001649[osteoblast differentiation] GO:0001656[metanephros development] GO:0001666[response to hypoxia] GO:0001889[liver development] GO:0001937[negative regulation of endothelial cell proliferation] GO:0001952[regulation of cell-matrix adhesion] GO:0005096[GTPase activator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006469[negative regulation of protein kinase activity] GO:0007154[cell communication] GO:0007165[signal transduction] GO:0007265[Ras protein signal transduction] GO:0007406[negative regulation of neuroblast proliferation] GO:0007420[brain development] GO:0007422[peripheral nervous system development] GO:0007507[heart development] GO:0008289[lipid binding] GO:0008429[phosphatidylethanolamine binding] GO:0008542[visual learning] GO:0014044[Schwann cell development] GO:0014065[phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0021510[spinal cord development] GO:0021897[forebrain astrocyte development] GO:0021987[cerebral cortex development] GO:0022011[myelination in peripheral nervous system] GO:0030036[actin cytoskeleton organization] GO:0030198[extracellular matrix organization] GO:0030199[collagen fibril organization] GO:0030325[adrenal gland development] GO:0030336[negative regulation of cell migration] GO:0030424[axon] GO:0030425[dendrite] GO:0031210[phosphatidylcholine binding] GO:0042060[wound healing] GO:0043065[positive regulation of apoptotic process] GO:0043087[regulation of GTPase activity] GO:0043407[negative regulation of MAP kinase activity] GO:0043409[negative regulation of MAPK cascade] GO:0043473[pigmentation] GO:0043525[positive regulation of neuron apoptotic process] GO:0043535[regulation of blood vessel endothelial cell migration] GO:0043547[positive regulation of GTPase activity] GO:0045124[regulation of bone resorption] GO:0045685[regulation of glial cell differentiation] GO:0045762[positive regulation of adenylate cyclase activity] GO:0045765[regulation of angiogenesis] GO:0048147[negative regulation of fibroblast proliferation] GO:0048485[sympathetic nervous system development] GO:0048593[camera-type eye morphogenesis] GO:0048715[negative regulation of oligodendrocyte differentiation] GO:0048745[smooth muscle tissue development] GO:0048844[artery morphogenesis] GO:0048853[forebrain morphogenesis] GO:0050890[cognition] GO:0098793[presynapse] GO:1902531[regulation of intracellular signal transduction]
MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of endocrine organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000165[MAPK cascade] GO:0001525[angiogenesis] GO:0001649[osteoblast differentiation] GO:0001656[metanephros development] GO:0001666[response to hypoxia] GO:0001889[liver development] GO:0001935[endothelial cell proliferation] GO:0001937[negative regulation of endothelial cell proliferation] GO:0001938[positive regulation of endothelial cell proliferation] GO:0001952[regulation of cell-matrix adhesion] GO:0001953[negative regulation of cell-matrix adhesion] GO:0002686[negative regulation of leukocyte migration] GO:0005096[GTPase activator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006469[negative regulation of protein kinase activity] GO:0006606[protein import into nucleus] GO:0006915[apoptotic process] GO:0007154[cell communication] GO:0007165[signal transduction] GO:0007265[Ras protein signal transduction] GO:0007269[neurotransmitter secretion] GO:0007405[neuroblast proliferation] GO:0007406[negative regulation of neuroblast proliferation] GO:0007420[brain development] GO:0007422[peripheral nervous system development] GO:0007507[heart development] GO:0007519[skeletal muscle tissue development] GO:0008283[cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0008289[lipid binding] GO:0008429[phosphatidylethanolamine binding] GO:0008542[visual learning] GO:0008625[extrinsic apoptotic signaling pathway via death domain receptors] GO:0010468[regulation of gene expression] GO:0010626[negative regulation of Schwann cell proliferation] GO:0014009[glial cell proliferation] GO:0014010[Schwann cell proliferation] GO:0014044[Schwann cell development] GO:0014065[phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016477[cell migration] GO:0016525[negative regulation of angiogenesis] GO:0016601[Rac protein signal transduction] GO:0021510[spinal cord development] GO:0021764[amygdala development] GO:0021897[forebrain astrocyte development] GO:0021915[neural tube development] GO:0021987[cerebral cortex development] GO:0022011[myelination in peripheral nervous system] GO:0030036[actin cytoskeleton organization] GO:0030198[extracellular matrix organization] GO:0030199[collagen fibril organization] GO:0030316[osteoclast differentiation] GO:0030325[adrenal gland development] GO:0030336[negative regulation of cell migration] GO:0030424[axon] GO:0030425[dendrite] GO:0031210[phosphatidylcholine binding] GO:0032228[regulation of synaptic transmission, GABAergic] GO:0033024[mast cell apoptotic process] GO:0033027[positive regulation of mast cell apoptotic process] GO:0033028[myeloid cell apoptotic process] GO:0033034[positive regulation of myeloid cell apoptotic process] GO:0034605[cellular response to heat] GO:0035021[negative regulation of Rac protein signal transduction] GO:0036135[Schwann cell migration] GO:0042060[wound healing] GO:0042127[regulation of cell population proliferation] GO:0042308[negative regulation of protein import into nucleus] GO:0043065[positive regulation of apoptotic process] GO:0043087[regulation of GTPase activity] GO:0043407[negative regulation of MAP kinase activity] GO:0043408[regulation of MAPK cascade] GO:0043409[negative regulation of MAPK cascade] GO:0043473[pigmentation] GO:0043525[positive regulation of neuron apoptotic process] GO:0043535[regulation of blood vessel endothelial cell migration] GO:0043547[positive regulation of GTPase activity] GO:0045124[regulation of bone resorption] GO:0045671[negative regulation of osteoclast differentiation] GO:0045685[regulation of glial cell differentiation] GO:0045762[positive regulation of adenylate cyclase activity] GO:0045765[regulation of angiogenesis] GO:0046580[negative regulation of Ras protein signal transduction] GO:0046929[negative regulation of neurotransmitter secretion] GO:0048144[fibroblast proliferation] GO:0048147[negative regulation of fibroblast proliferation] GO:0048169[regulation of long-term neuronal synaptic plasticity] GO:0048485[sympathetic nervous system development] GO:0048593[camera-type eye morphogenesis] GO:0048708[astrocyte differentiation] GO:0048709[oligodendrocyte differentiation] GO:0048712[negative regulation of astrocyte differentiation] GO:0048715[negative regulation of oligodendrocyte differentiation] GO:0048745[smooth muscle tissue development] GO:0048820[hair follicle maturation] GO:0048844[artery morphogenesis] GO:0048853[forebrain morphogenesis] GO:0050890[cognition] GO:0051402[neuron apoptotic process] GO:0060253[negative regulation of glial cell proliferation] GO:0061534[gamma-aminobutyric acid secretion, neurotransmission] GO:0061535[glutamate secretion, neurotransmission] GO:0070662[mast cell proliferation] GO:0070667[negative regulation of mast cell proliferation] GO:0071887[leukocyte apoptotic process] GO:0072089[stem cell proliferation] GO:0097192[extrinsic apoptotic signaling pathway in absence of ligand] GO:0097529[myeloid leukocyte migration] GO:0098597[observational learning] GO:0098793[presynapse] GO:0098978[glutamatergic synapse] GO:0099175[regulation of postsynapse organization] GO:1900148[negative regulation of Schwann cell migration] GO:1900271[regulation of long-term synaptic potentiation] GO:1902531[regulation of intracellular signal transduction] GO:1904707[positive regulation of vascular associated smooth muscle cell proliferation] GO:1904738[vascular associated smooth muscle cell migration] GO:1904753[negative regulation of vascular associated smooth muscle cell migration] GO:1990874[vascular associated smooth muscle cell proliferation] GO:2000108[positive regulation of leukocyte apoptotic process] GO:2000647[negative regulation of stem cell proliferation] GO:2001241[positive regulation of extrinsic apoptotic signaling pathway in absence of ligand]
MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of endocrine organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000165[MAPK cascade] GO:0001649[osteoblast differentiation] GO:0001656[metanephros development] GO:0001666[response to hypoxia] GO:0001889[liver development] GO:0001937[negative regulation of endothelial cell proliferation] GO:0001952[regulation of cell-matrix adhesion] GO:0005096[GTPase activator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006469[negative regulation of protein kinase activity] GO:0007154[cell communication] GO:0007265[Ras protein signal transduction] GO:0007406[negative regulation of neuroblast proliferation] GO:0007420[brain development] GO:0007422[peripheral nervous system development] GO:0007507[heart development] GO:0008289[lipid binding] GO:0008429[phosphatidylethanolamine binding] GO:0008542[visual learning] GO:0014044[Schwann cell development] GO:0014065[phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0021510[spinal cord development] GO:0021897[forebrain astrocyte development] GO:0021987[cerebral cortex development] GO:0022011[myelination in peripheral nervous system] GO:0030036[actin cytoskeleton organization] GO:0030198[extracellular matrix organization] GO:0030199[collagen fibril organization] GO:0030325[adrenal gland development] GO:0030336[negative regulation of cell migration] GO:0030424[axon] GO:0030425[dendrite] GO:0031210[phosphatidylcholine binding] GO:0042060[wound healing] GO:0043065[positive regulation of apoptotic process] GO:0043087[regulation of GTPase activity] GO:0043407[negative regulation of MAP kinase activity] GO:0043409[negative regulation of MAPK cascade] GO:0043473[pigmentation] GO:0043525[positive regulation of neuron apoptotic process] GO:0043535[regulation of blood vessel endothelial cell migration] GO:0043547[positive regulation of GTPase activity] GO:0045124[regulation of bone resorption] GO:0045685[regulation of glial cell differentiation] GO:0045762[positive regulation of adenylate cyclase activity] GO:0045765[regulation of angiogenesis] GO:0048147[negative regulation of fibroblast proliferation] GO:0048485[sympathetic nervous system development] GO:0048593[camera-type eye morphogenesis] GO:0048715[negative regulation of oligodendrocyte differentiation] GO:0048745[smooth muscle tissue development] GO:0048844[artery morphogenesis] GO:0048853[forebrain morphogenesis] GO:0050890[cognition] GO:0098793[presynapse] GO:1902531[regulation of intracellular signal transduction]
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of endocrine organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096[GTPase activator activity] GO:0007165[signal transduction] GO:0043087[regulation of GTPase activity] GO:1902531[regulation of intracellular signal transduction]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of endocrine organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of endocrine organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000165[MAPK cascade] GO:0001649[osteoblast differentiation] GO:0001656[metanephros development] GO:0001666[response to hypoxia] GO:0001889[liver development] GO:0001937[negative regulation of endothelial cell proliferation] GO:0001952[regulation of cell-matrix adhesion] GO:0005096[GTPase activator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006469[negative regulation of protein kinase activity] GO:0007154[cell communication] GO:0007265[Ras protein signal transduction] GO:0007406[negative regulation of neuroblast proliferation] GO:0007420[brain development] GO:0007422[peripheral nervous system development] GO:0007507[heart development] GO:0008285[negative regulation of cell population proliferation] GO:0008289[lipid binding] GO:0008429[phosphatidylethanolamine binding] GO:0008542[visual learning] GO:0014044[Schwann cell development] GO:0014065[phosphatidylinositol 3-kinase signaling] GO:0016020[membrane] GO:0016525[negative regulation of angiogenesis] GO:0021510[spinal cord development] GO:0021897[forebrain astrocyte development] GO:0021987[cerebral cortex development] GO:0022011[myelination in peripheral nervous system] GO:0030036[actin cytoskeleton organization] GO:0030198[extracellular matrix organization] GO:0030199[collagen fibril organization] GO:0030325[adrenal gland development] GO:0030336[negative regulation of cell migration] GO:0030424[axon] GO:0030425[dendrite] GO:0030948[negative regulation of vascular endothelial growth factor receptor signaling pathway] GO:0031210[phosphatidylcholine binding] GO:0038026[reelin-mediated signaling pathway] GO:0042060[wound healing] GO:0043065[positive regulation of apoptotic process] GO:0043087[regulation of GTPase activity] GO:0043407[negative regulation of MAP kinase activity] GO:0043409[negative regulation of MAPK cascade] GO:0043473[pigmentation] GO:0043525[positive regulation of neuron apoptotic process] GO:0043535[regulation of blood vessel endothelial cell migration] GO:0043547[positive regulation of GTPase activity] GO:0045124[regulation of bone resorption] GO:0045685[regulation of glial cell differentiation] GO:0045762[positive regulation of adenylate cyclase activity] GO:0045765[regulation of angiogenesis] GO:0048147[negative regulation of fibroblast proliferation] GO:0048485[sympathetic nervous system development] GO:0048593[camera-type eye morphogenesis] GO:0048715[negative regulation of oligodendrocyte differentiation] GO:0048745[smooth muscle tissue development] GO:0048844[artery morphogenesis] GO:0048853[forebrain morphogenesis] GO:0050890[cognition] GO:0098793[presynapse] GO:1902531[regulation of intracellular signal transduction]
MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of endocrine organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of endocrine organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Other Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of endocrine organs Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096[GTPase activator activity] GO:0007165[signal transduction] GO:0043087[regulation of GTPase activity] GO:1902531[regulation of intracellular signal transduction]
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