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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 Enzymes Human disease related genes Plasma proteins Potential drug targets 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
11
Cytoband
p15.5
Chromosome location (bp)
532242 - 537321
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in the activation of Ras protein signal transduction 1. Ras proteins bind GDP/GTP and possess intrinsic GTPase activity 2,3,4....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
GTP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified 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.
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Cancers Skin cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cancers of male genital organs Cancers of the urinary system Cancers of endocrine organs Congenital malformations Congenital malformations of skin Other congenital malformations Musculoskeletal diseases Skeletal diseases 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:0000139[Golgi membrane] GO:0000165[MAPK cascade] GO:0000166[nucleotide binding] GO:0001934[positive regulation of protein phosphorylation] GO:0003924[GTPase activity] GO:0003925[G protein activity] GO:0005515[protein binding] GO:0005525[GTP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006897[endocytosis] GO:0006935[chemotaxis] GO:0007165[signal transduction] GO:0007166[cell surface receptor signaling pathway] GO:0007264[small GTPase mediated signal transduction] GO:0007265[Ras protein signal transduction] GO:0008022[protein C-terminus binding] GO:0008284[positive regulation of cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0008286[insulin receptor signaling pathway] GO:0009887[animal organ morphogenesis] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0010863[positive regulation of phospholipase C activity] GO:0016020[membrane] GO:0016787[hydrolase activity] GO:0019003[GDP binding] GO:0030335[positive regulation of cell migration] GO:0032729[positive regulation of interferon-gamma production] GO:0034260[negative regulation of GTPase activity] GO:0042088[T-helper 1 type immune response] GO:0042127[regulation of cell population proliferation] GO:0042832[defense response to protozoan] GO:0043405[regulation of MAP kinase activity] GO:0043406[positive regulation of MAP kinase activity] GO:0043410[positive regulation of MAPK cascade] GO:0043495[protein-membrane adaptor activity] GO:0043524[negative regulation of neuron apoptotic process] GO:0043539[protein serine/threonine kinase activator activity] GO:0043547[positive regulation of GTPase activity] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046330[positive regulation of JNK cascade] GO:0048144[fibroblast proliferation] GO:0048146[positive regulation of fibroblast proliferation] GO:0048169[regulation of long-term neuronal synaptic plasticity] GO:0048471[perinuclear region of cytoplasm] GO:0050679[positive regulation of epithelial cell proliferation] GO:0050852[T cell receptor signaling pathway] GO:0051402[neuron apoptotic process] GO:0051726[regulation of cell cycle] GO:0060612[adipose tissue development] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0071480[cellular response to gamma radiation] GO:0090303[positive regulation of wound healing] GO:0090314[positive regulation of protein targeting to membrane] GO:0090398[cellular senescence] GO:0097193[intrinsic apoptotic signaling pathway] GO:0098696[regulation of neurotransmitter receptor localization to postsynaptic specialization membrane] GO:0098978[glutamatergic synapse] GO:1900029[positive regulation of ruffle assembly] GO:1905360[GTPase complex] GO:2000251[positive regulation of actin cytoskeleton reorganization] GO:2000630[positive regulation of miRNA metabolic process]
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 Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Skin cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cancers of male genital organs Cancers of the urinary system Cancers of endocrine organs Congenital malformations Congenital malformations of skin Other congenital malformations Musculoskeletal diseases Skeletal diseases Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Cancers Skin cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cancers of male genital organs Cancers of the urinary system Cancers of endocrine organs Congenital malformations Congenital malformations of skin Other congenital malformations Musculoskeletal diseases Skeletal diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000139[Golgi membrane] GO:0000165[MAPK cascade] GO:0000166[nucleotide binding] GO:0001934[positive regulation of protein phosphorylation] GO:0003924[GTPase activity] GO:0003925[G protein activity] GO:0005515[protein binding] GO:0005525[GTP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006935[chemotaxis] GO:0007165[signal transduction] GO:0007166[cell surface receptor signaling pathway] GO:0007265[Ras protein signal transduction] GO:0008022[protein C-terminus binding] GO:0008284[positive regulation of cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0009887[animal organ morphogenesis] GO:0010629[negative regulation of gene expression] GO:0010863[positive regulation of phospholipase C activity] GO:0016020[membrane] GO:0016787[hydrolase activity] GO:0019003[GDP binding] GO:0030335[positive regulation of cell migration] GO:0034260[negative regulation of GTPase activity] GO:0042127[regulation of cell population proliferation] GO:0043405[regulation of MAP kinase activity] GO:0043406[positive regulation of MAP kinase activity] GO:0043410[positive regulation of MAPK cascade] GO:0043547[positive regulation of GTPase activity] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046330[positive regulation of JNK cascade] GO:0048471[perinuclear region of cytoplasm] GO:0050679[positive regulation of epithelial cell proliferation] GO:0051726[regulation of cell cycle] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0071480[cellular response to gamma radiation] GO:0090303[positive regulation of wound healing] GO:0090314[positive regulation of protein targeting to membrane] GO:0090398[cellular senescence] GO:0098696[regulation of neurotransmitter receptor localization to postsynaptic specialization membrane] GO:0098978[glutamatergic synapse] GO:1900029[positive regulation of ruffle assembly] GO:1905360[GTPase complex] GO:2000251[positive regulation of actin cytoskeleton reorganization] GO:2000630[positive regulation of miRNA metabolic process]
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Cancers Skin cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cancers of male genital organs Cancers of the urinary system Cancers of endocrine organs Congenital malformations Congenital malformations of skin Other congenital malformations Musculoskeletal diseases Skeletal diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139[Golgi membrane] GO:0000165[MAPK cascade] GO:0000166[nucleotide binding] GO:0001934[positive regulation of protein phosphorylation] GO:0003924[GTPase activity] GO:0003925[G protein activity] GO:0005515[protein binding] GO:0005525[GTP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006935[chemotaxis] GO:0007165[signal transduction] GO:0007166[cell surface receptor signaling pathway] GO:0007265[Ras protein signal transduction] GO:0008022[protein C-terminus binding] GO:0008284[positive regulation of cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0009887[animal organ morphogenesis] GO:0010629[negative regulation of gene expression] GO:0010863[positive regulation of phospholipase C activity] GO:0016020[membrane] GO:0016787[hydrolase activity] GO:0019003[GDP binding] GO:0030335[positive regulation of cell migration] GO:0034260[negative regulation of GTPase activity] GO:0042127[regulation of cell population proliferation] GO:0043405[regulation of MAP kinase activity] GO:0043406[positive regulation of MAP kinase activity] GO:0043410[positive regulation of MAPK cascade] GO:0043547[positive regulation of GTPase activity] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046330[positive regulation of JNK cascade] GO:0048471[perinuclear region of cytoplasm] GO:0050679[positive regulation of epithelial cell proliferation] GO:0051726[regulation of cell cycle] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0071480[cellular response to gamma radiation] GO:0090303[positive regulation of wound healing] GO:0090314[positive regulation of protein targeting to membrane] GO:0090398[cellular senescence] GO:0098696[regulation of neurotransmitter receptor localization to postsynaptic specialization membrane] GO:0098978[glutamatergic synapse] GO:1900029[positive regulation of ruffle assembly] GO:1905360[GTPase complex] GO:2000251[positive regulation of actin cytoskeleton reorganization] GO:2000630[positive regulation of miRNA metabolic process]
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Human disease related genes Cancers Skin cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cancers of male genital organs Cancers of the urinary system Cancers of endocrine organs Congenital malformations Congenital malformations of skin Other congenital malformations Musculoskeletal diseases Skeletal diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000139[Golgi membrane] GO:0000165[MAPK cascade] GO:0000166[nucleotide binding] GO:0001934[positive regulation of protein phosphorylation] GO:0003924[GTPase activity] GO:0003925[G protein activity] GO:0005515[protein binding] GO:0005525[GTP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006935[chemotaxis] GO:0007165[signal transduction] GO:0007166[cell surface receptor signaling pathway] GO:0007265[Ras protein signal transduction] GO:0008022[protein C-terminus binding] GO:0008284[positive regulation of cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0009887[animal organ morphogenesis] GO:0010629[negative regulation of gene expression] GO:0010863[positive regulation of phospholipase C activity] GO:0016020[membrane] GO:0016787[hydrolase activity] GO:0019003[GDP binding] GO:0030335[positive regulation of cell migration] GO:0034260[negative regulation of GTPase activity] GO:0042127[regulation of cell population proliferation] GO:0043405[regulation of MAP kinase activity] GO:0043406[positive regulation of MAP kinase activity] GO:0043410[positive regulation of MAPK cascade] GO:0043547[positive regulation of GTPase activity] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046330[positive regulation of JNK cascade] GO:0048471[perinuclear region of cytoplasm] GO:0050679[positive regulation of epithelial cell proliferation] GO:0051726[regulation of cell cycle] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0071480[cellular response to gamma radiation] GO:0090303[positive regulation of wound healing] GO:0090314[positive regulation of protein targeting to membrane] GO:0090398[cellular senescence] GO:0098696[regulation of neurotransmitter receptor localization to postsynaptic specialization membrane] GO:0098978[glutamatergic synapse] GO:1900029[positive regulation of ruffle assembly] GO:1905360[GTPase complex] GO:2000251[positive regulation of actin cytoskeleton reorganization] GO:2000630[positive regulation of miRNA metabolic process]
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 Somatic Mutations COSMIC Missense Mutations COSMIC Germline Mutations Human disease related genes Cancers Skin cancers Cancers of soft tissues and bone Cancers of the breast and female genital organs Cancers of male genital organs Cancers of the urinary system Cancers of endocrine organs Congenital malformations Congenital malformations of skin Other congenital malformations Musculoskeletal diseases Skeletal diseases Protein evidence (Ezkurdia et al 2014)
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