We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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 FDA approved drug targets Human disease related genes Plasma 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
1
Cytoband
p36.22
Chromosome location (bp)
11106535 - 11262556
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Serine/threonine protein kinase which is a central regulator of cellular metabolism, growth and survival in response to hormones, growth factors, nutrients, energy and stress signals 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27. MTOR directly or indirectly regulates the phosphorylation of at least 800 proteins 28,29,30,31,32,33,34,35,36,37,38,39. Functions as part of 2 structurally and functionally distinct signaling complexes mTORC1 and mTORC2 (mTOR complex 1 and 2) 40,41,42,43,44,45,46,47. In response to nutrients, growth factors or amino acids, mTORC1 is recruited to the lysosome membrane and promotes protein, lipid and nucleotide synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis 48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71. This includes phosphorylation of EIF4EBP1 and release of its inhibition toward the elongation initiation factor 4E (eiF4E) 72,73. Moreover, phosphorylates and activates RPS6KB1 and RPS6KB2 that promote protein synthesis by modulating the activity of their downstream targets including ribosomal protein S6, eukaryotic translation initiation factor EIF4B, and the inhibitor of translation initiation PDCD4 74,75,76,77,78. Stimulates the pyrimidine biosynthesis pathway, both by acute regulation through RPS6KB1-mediated phosphorylation of the biosynthetic enzyme CAD, and delayed regulation, through transcriptional enhancement of the pentose phosphate pathway which produces 5-phosphoribosyl-1-pyrophosphate (PRPP), an allosteric activator of CAD at a later step in synthesis, this function is dependent on the mTORC1 complex 79,80. Regulates ribosome synthesis by activating RNA polymerase III-dependent transcription through phosphorylation and inhibition of MAF1 an RNA polymerase III-repressor 81. Activates dormant ribosomes by mediating phosphorylation of SERBP1, leading to SERBP1 inactivation and reactivation of translation 82. In parallel to protein synthesis, also regulates lipid synthesis through SREBF1/SREBP1 and LPIN1 83. To maintain energy homeostasis mTORC1 may also regulate mitochondrial biogenesis through regulation of PPARGC1A (By similarity). In the same time, mTORC1 inhibits catabolic pathways: negatively regulates autophagy through phosphorylation of ULK1 84. Under nutrient sufficiency, phosphorylates ULK1 at 'Ser-758', disrupting the interaction with AMPK and preventing activation of ULK1 85. Also prevents autophagy through phosphorylation of the autophagy inhibitor DAP 86. Also prevents autophagy by phosphorylating RUBCNL/Pacer under nutrient-rich conditions 87. Prevents autophagy by mediating phosphorylation of AMBRA1, thereby inhibiting AMBRA1 ability to mediate ubiquitination of ULK1 and interaction between AMBRA1 and PPP2CA 88,89. mTORC1 exerts a feedback control on upstream growth factor signaling that includes phosphorylation and activation of GRB10 a INSR-dependent signaling suppressor 90. Among other potential targets mTORC1 may phosphorylate CLIP1 and regulate microtubules 91. The mTORC1 complex is inhibited in response to starvation and amino acid depletion 92,93,94,95. The non-canonical mTORC1 complex, which acts independently of RHEB, specifically mediates phosphorylation of MiT/TFE factors MITF, TFEB and TFE3 in the presence of nutrients, promoting their cytosolic retention and inactivation 96,97,98,99,100,101,102. Upon starvation or lysosomal stress, inhibition of mTORC1 induces dephosphorylation and nuclear translocation of TFEB and TFE3, promoting their transcription factor activity 103,104,105,106,107,108. The mTORC1 complex regulates pyroptosis in macrophages by promoting GSDMD oligomerization 109. MTOR phosphorylates RPTOR which in turn inhibits mTORC1 (By similarity). As part of the mTORC2 complex MTOR may regulate other cellular processes including survival and organization of the cytoskeleton 110,111. mTORC2 plays a critical role in the phosphorylation at 'Ser-473' of AKT1, a pro-survival effector of phosphoinositide 3-kinase, facilitating its activation by PDK1 112. mTORC2 may regulate the actin cytoskeleton, through phosphorylation of PRKCA, PXN and activation of the Rho-type guanine nucleotide exchange factors RHOA and RAC1A or RAC1B 113. mTORC2 also regulates the phosphorylation of SGK1 at 'Ser-422' 114. Regulates osteoclastogenesis by adjusting the expression of CEBPB isoforms (By similarity). Plays an important regulatory role in the circadian clock function; regulates period length and rhythm amplitude of the suprachiasmatic nucleus (SCN) and liver clocks (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Biological rhythms
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This kinase is a component of two distinct complexes, mTORC1, which controls protein synthesis, cell growth and proliferation, and mTORC2, which is a regulator of the actin cytoskeleton, and promotes cell survival and cell cycle progression. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. Inhibitors of mTOR are used in organ transplants as immunosuppressants, and are being evaluated for their therapeutic potential in SARS-CoV-2 infections. Mutations in this gene are associated with Smith-Kingsmore syndrome and somatic focal cortical dysplasia type II. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Aug 2020]...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 Transferases Kinases Atypical kinases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Congenital malformations Congenital malformations of the nervous system 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:0000139[Golgi membrane] GO:0000166[nucleotide binding] GO:0001002[RNA polymerase III type 1 promoter sequence-specific DNA binding] GO:0001003[RNA polymerase III type 2 promoter sequence-specific DNA binding] GO:0001006[RNA polymerase III type 3 promoter sequence-specific DNA binding] GO:0001156[TFIIIC-class transcription factor complex binding] GO:0001558[regulation of cell growth] GO:0001932[regulation of protein phosphorylation] GO:0001934[positive regulation of protein phosphorylation] GO:0002296[T-helper 1 cell lineage commitment] GO:0003007[heart morphogenesis] GO:0003179[heart valve morphogenesis] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005635[nuclear envelope] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005829[cytosol] GO:0006112[energy reserve metabolic process] GO:0006207['de novo' pyrimidine nucleobase biosynthetic process] GO:0006468[protein phosphorylation] GO:0006950[response to stress] GO:0006954[inflammatory response] GO:0006974[cellular response to DNA damage stimulus] GO:0007010[cytoskeleton organization] GO:0007040[lysosome organization] GO:0007281[germ cell development] GO:0007584[response to nutrient] GO:0008361[regulation of cell size] GO:0009267[cellular response to starvation] GO:0009408[response to heat] GO:0009791[post-embryonic development] GO:0010506[regulation of autophagy] GO:0010507[negative regulation of autophagy] GO:0010592[positive regulation of lamellipodium assembly] GO:0010628[positive regulation of gene expression] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010831[positive regulation of myotube differentiation] GO:0012505[endomembrane system] GO:0016020[membrane] GO:0016236[macroautophagy] GO:0016241[regulation of macroautophagy] GO:0016242[negative regulation of macroautophagy] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016605[PML body] GO:0016740[transferase activity] GO:0018105[peptidyl-serine phosphorylation] GO:0018107[peptidyl-threonine phosphorylation] GO:0019219[regulation of nucleobase-containing compound metabolic process] GO:0019228[neuronal action potential] GO:0030030[cell projection organization] GO:0030163[protein catabolic process] GO:0030307[positive regulation of cell growth] GO:0030425[dendrite] GO:0030838[positive regulation of actin filament polymerization] GO:0031410[cytoplasmic vesicle] GO:0031529[ruffle organization] GO:0031641[regulation of myelination] GO:0031667[response to nutrient levels] GO:0031669[cellular response to nutrient levels] GO:0031929[TOR signaling] GO:0031931[TORC1 complex] GO:0031932[TORC2 complex] GO:0032148[activation of protein kinase B activity] GO:0032516[positive regulation of phosphoprotein phosphatase activity] GO:0032868[response to insulin] GO:0032956[regulation of actin cytoskeleton organization] GO:0033173[calcineurin-NFAT signaling cascade] GO:0034198[cellular response to amino acid starvation] GO:0035264[multicellular organism growth] GO:0038202[TORC1 signaling] GO:0042221[response to chemical] GO:0042752[regulation of circadian rhythm] GO:0042802[identical protein binding] GO:0043022[ribosome binding] GO:0043066[negative regulation of apoptotic process] GO:0043087[regulation of GTPase activity] GO:0043200[response to amino acid] GO:0043231[intracellular membrane-bounded organelle] GO:0043276[anoikis] GO:0044877[protein-containing complex binding] GO:0045335[phagocytic vesicle] GO:0045670[regulation of osteoclast differentiation] GO:0045727[positive regulation of translation] GO:0045792[negative regulation of cell size] GO:0045821[positive regulation of glycolytic process] GO:0045859[regulation of protein kinase activity] GO:0045945[positive regulation of transcription by RNA polymerase III] GO:0046777[protein autophosphorylation] GO:0046889[positive regulation of lipid biosynthetic process] GO:0048266[behavioral response to pain] GO:0048511[rhythmic process] GO:0048584[positive regulation of response to stimulus] GO:0048709[oligodendrocyte differentiation] GO:0048714[positive regulation of oligodendrocyte differentiation] GO:0048738[cardiac muscle tissue development] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0050882[voluntary musculoskeletal movement] GO:0051128[regulation of cellular component organization] GO:0051219[phosphoprotein binding] GO:0051247[positive regulation of protein metabolic process] GO:0051496[positive regulation of stress fiber assembly] GO:0051549[positive regulation of keratinocyte migration] GO:0051647[nucleus localization] GO:0051896[regulation of protein kinase B signaling] GO:0055006[cardiac cell development] GO:0055013[cardiac muscle cell development] GO:0060048[cardiac muscle contraction] GO:0070885[negative regulation of calcineurin-NFAT signaling cascade] GO:0071230[cellular response to amino acid stimulus] GO:0071233[cellular response to leucine] GO:0071456[cellular response to hypoxia] GO:0071470[cellular response to osmotic stress] GO:0080135[regulation of cellular response to stress] GO:0090559[regulation of membrane permeability] GO:0106310[protein serine kinase activity] GO:1900034[regulation of cellular response to heat] GO:1901796[regulation of signal transduction by p53 class mediator] GO:1901838[positive regulation of transcription of nucleolar large rRNA by RNA polymerase I] GO:1903691[positive regulation of wound healing, spreading of epidermal cells] GO:1904059[regulation of locomotor rhythm] GO:1904690[positive regulation of cytoplasmic translational initiation] GO:1905857[positive regulation of pentose-phosphate shunt] GO:1990253[cellular response to leucine starvation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Human disease related genes Congenital malformations Congenital malformations of the nervous system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations Human disease related genes Congenital malformations Congenital malformations of the nervous system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
