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 protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [prov... See more...

Aliases for MTOR Gene

Aliases for MTOR Gene

  • Mechanistic Target Of Rapamycin Kinase 2 3 5
  • Rapamycin And FKBP12 Target 1 2 3 4
  • Mammalian Target Of Rapamycin 2 3 4
  • RAFT1 2 3 4
  • RAPT1 2 3 4
  • FK506-Binding Protein 12-Rapamycin Complex-Associated Protein 1 3 4
  • Mechanistic Target Of Rapamycin (Serine/Threonine Kinase) 2 3
  • FK506 Binding Protein 12-Rapamycin Associated Protein 2 2 3
  • FKBP12-Rapamycin Complex-Associated Protein 1 2 3
  • Serine/Threonine-Protein Kinase MTOR 3 4
  • Rapamycin Associated Protein FRAP2 2 3
  • FKBP-Rapamycin Associated Protein 2 3
  • Mechanistic Target Of Rapamycin 2 4
  • Rapamycin Target Protein 1 3 4
  • FRAP1 3 4
  • FRAP2 3 4
  • FRAP 3 4
  • MTOR 4 5
  • DJ576K7.1 (FK506 Binding Protein 12-Rapamycin Associated Protein 1) 2
  • FK506 Binding Protein 12-Rapamycin Associated Protein 1 2
  • FKBP12-Rapamycin Complex-Associated Protein 4
  • Rapamycin Target Protein 2
  • EC 2.7.11.1 4
  • FLJ44809 2
  • SKS 3

External Ids for MTOR Gene

Previous HGNC Symbols for MTOR Gene

  • FRAP
  • FRAP2
  • FRAP1

Previous GeneCards Identifiers for MTOR Gene

  • GC01M011089
  • GC01M011166
  • GC01M010317

Summaries for MTOR Gene

Entrez Gene Summary for MTOR Gene

  • 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 protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008]

CIViC Summary for MTOR Gene

  • mTOR deregulation has been observed in many cancer types. As a part of the PI3K/Akt pathway, there is a broad interest in mTOR biology across cancer types. mTOR inhibition has been investigated for nearly a decade. Everolimus, temsirolimus and zotarolimus are three of the more commonly used mTOR inhibitors used in clinical treatment today, with modest success.

GeneCards Summary for MTOR Gene

MTOR (Mechanistic Target Of Rapamycin Kinase) is a Protein Coding gene. Diseases associated with MTOR include Smith-Kingsmore Syndrome and Focal Cortical Dysplasia, Type Ii. Among its related pathways are Translation Translation regulation by Alpha-1 adrenergic receptors and RET signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein serine/threonine kinase activity. An important paralog of this gene is SMG1.

UniProtKB/Swiss-Prot Summary for MTOR Gene

  • 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 (PubMed:12087098, PubMed:12150925, PubMed:12150926, PubMed:12231510, PubMed:12718876, PubMed:14651849, PubMed:15268862, PubMed:15467718, PubMed:15545625, PubMed:15718470, PubMed:18497260, PubMed:18762023, PubMed:18925875, PubMed:20516213, PubMed:20537536, PubMed:21659604, PubMed:23429703, PubMed:23429704, PubMed:25799227, PubMed:26018084). MTOR directly or indirectly regulates the phosphorylation of at least 800 proteins. Functions as part of 2 structurally and functionally distinct signaling complexes mTORC1 and mTORC2 (mTOR complex 1 and 2) (PubMed:15268862, PubMed:15467718, PubMed:18925875, PubMed:18497260, PubMed:20516213, PubMed:21576368, PubMed:21659604, PubMed:23429704). Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis (PubMed:12087098, PubMed:12150925, PubMed:12150926, PubMed:12231510, PubMed:12718876, PubMed:14651849, PubMed:15268862, PubMed:15467718, PubMed:15545625, PubMed:15718470, PubMed:18497260, PubMed:18762023, PubMed:18925875, PubMed:20516213, PubMed:20537536, PubMed:21659604, PubMed:23429703, PubMed:23429704, PubMed:25799227, PubMed:26018084). This includes phosphorylation of EIF4EBP1 and release of its inhibition toward the elongation initiation factor 4E (eiF4E) (By similarity). 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 (PubMed:12150925, PubMed:12087098, PubMed:18925875). This also includes mTORC1 signaling cascade controlling the MiT/TFE factors TFEB and TFE3: in the presence of nutrients, mediates phosphorylation of TFEB and TFE3, promoting their cytosolic retention and inactivation (PubMed:22576015, PubMed:22343943, PubMed:22692423). Upon starvation or lysosomal stress, inhibition of mTORC1 induces dephosphorylation and nuclear translocation of TFEB and TFE3, promoting their transcription factor activity (PubMed:22576015, PubMed:22343943, PubMed:22692423). 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 (PubMed:23429704, PubMed:23429703). Regulates ribosome synthesis by activating RNA polymerase III-dependent transcription through phosphorylation and inhibition of MAF1 an RNA polymerase III-repressor (PubMed:20516213). In parallel to protein synthesis, also regulates lipid synthesis through SREBF1/SREBP1 and LPIN1 (By similarity). To maintain energy homeostasis mTORC1 may also regulate mitochondrial biogenesis through regulation of PPARGC1A (By similarity). mTORC1 also negatively regulates autophagy through phosphorylation of ULK1 (By similarity). Under nutrient sufficiency, phosphorylates ULK1 at 'Ser-758', disrupting the interaction with AMPK and preventing activation of ULK1 (By similarity). Also prevents autophagy through phosphorylation of the autophagy inhibitor DAP (PubMed:20537536). Also prevents autophagy by phosphorylating RUBCNL/Pacer under nutrient-rich conditions (PubMed:30704899). mTORC1 exerts a feedback control on upstream growth factor signaling that includes phosphorylation and activation of GRB10 a INSR-dependent signaling suppressor (PubMed:21659604). Among other potential targets mTORC1 may phosphorylate CLIP1 and regulate microtubules (PubMed:12231510). As part of the mTORC2 complex MTOR may regulate other cellular processes including survival and organization of the cytoskeleton (PubMed:15268862, PubMed:15467718). 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 (PubMed:15718470). 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 (PubMed:15268862). mTORC2 also regulates the phosphorylation of SGK1 at 'Ser-422' (PubMed:18925875). 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). Phosphorylates SQSTM1, promoting interaction between SQSTM1 and KEAP1 and subsequent inactivation of the BCR(KEAP1) complex (By similarity).

Gene Wiki entry for MTOR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTOR Gene

Genomics for MTOR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTOR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTOR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTOR

Genomic Locations for MTOR Gene

Genomic Locations for MTOR Gene
chr1:11,106,535-11,273,497
(GRCh38/hg38)
Size:
166,963 bases
Orientation:
Minus strand
chr1:11,166,588-11,322,608
(GRCh37/hg19)
Size:
156,021 bases
Orientation:
Minus strand

Genomic View for MTOR Gene

Genes around MTOR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTOR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTOR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTOR Gene

Proteins for MTOR Gene

  • Protein details for MTOR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P42345-MTOR_HUMAN
    Recommended name:
    Serine/threonine-protein kinase mTOR
    Protein Accession:
    P42345
    Secondary Accessions:
    • Q4LE76
    • Q5TER1
    • Q6LE87
    • Q96QG3
    • Q9Y4I3

    Protein attributes for MTOR Gene

    Size:
    2549 amino acids
    Molecular mass:
    288892 Da
    Quaternary structure:
    • Part of the mammalian target of rapamycin complex 1 (mTORC1) which contains MTOR, MLST8, RPTOR, AKT1S1/PRAS40 and DEPTOR. The mTORC1 complex is a 1 Md obligate dimer of two stoichiometric heterotetramers with overall dimensions of 290 A x 210 A x 135 A. It has a rhomboid shape and a central cavity, the dimeric interfaces are formed by interlocking interactions between the two MTOR and the two RPTOR subunits. The MLST8 subunit forms distal foot-like protuberances, and contacts only one MTOR within the complex, while the small PRAS40 localizes to the midsection of the central core, in close proximity to RPTOR. Part of the mammalian target of rapamycin complex 2 (mTORC2) which contains MTOR, MLST8, PRR5, RICTOR, MAPKAP1 and DEPTOR. Interacts with PLPP7 and PML. Interacts with PRR5 and RICTOR; the interaction is direct within the mTORC2 complex. Interacts with WAC; WAC positively regulates MTOR activity by promoting the assembly of the TTT complex composed of TELO2, TTI1 and TTI2 and the RUVBL complex composed of RUVBL1 and RUVBL2 into the TTT-RUVBL complex which leads to the dimerization of the mTORC1 complex and its subsequent activation (PubMed:26812014). Interacts with UBQLN1. Interacts with TTI1 and TELO2. Interacts with CLIP1; phosphorylates and regulates CLIP1. Interacts with NBN. Interacts with HTR6 (PubMed:23027611). Interacts with BRAT1. Interacts with MEAK7 (via C-terminal domain); the interaction increases upon nutrient stimulation (PubMed:29750193). Interacts with TM4SF5; the interaction is positively regulated by arginine and is negatively regulated by leucine (PubMed:30956113). Interacts with GPR137B (PubMed:31036939).
    SequenceCaution:
    • Sequence=AAC39933.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAE06077.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MTOR Gene

neXtProt entry for MTOR Gene

Post-translational modifications for MTOR Gene

  • Autophosphorylates when part of mTORC1 or mTORC2. Phosphorylation at Ser-1261, Ser-2159 and Thr-2164 promotes autophosphorylation. Phosphorylation in the kinase domain modulates the interactions of MTOR with RPTOR and PRAS40 and leads to increased intrinsic mTORC1 kinase activity. Phosphorylation at Thr-2173 in the ATP-binding region by AKT1 strongly reduces kinase activity.
  • Ubiquitination at Lys309, Lys616, Lys1293, Lys1635, Lys1655, and Lys2166
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for MTOR

No data available for DME Specific Peptides for MTOR Gene

Domains & Families for MTOR Gene

Gene Families for MTOR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MTOR Gene

Suggested Antigen Peptide Sequences for MTOR Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60991, highly similar to FKBP12-rapamycin complex-associated protein (B4DZD5_HUMAN)
  • Rapamycin target protein 1 (MTOR_HUMAN)
  • DJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1) (Q96QW8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P42345

UniProtKB/Swiss-Prot:

MTOR_HUMAN :
  • The kinase domain (PI3K/PI4K) is intrinsically active but has a highly restricted catalytic center.
  • Belongs to the PI3/PI4-kinase family.
Domain:
  • The kinase domain (PI3K/PI4K) is intrinsically active but has a highly restricted catalytic center.
  • The FAT domain forms three discontinuous subdomains of alpha-helical TPR repeats plus a single subdomain of HEAT repeats. The four domains pack sequentially to form a C-shaped a-solenoid that clamps onto the kinase domain (PubMed:23636326).
Family:
  • Belongs to the PI3/PI4-kinase family.
genes like me logo Genes that share domains with MTOR: view

Function for MTOR Gene

Molecular function for MTOR Gene

UniProtKB/Swiss-Prot Function:
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 (PubMed:12087098, PubMed:12150925, PubMed:12150926, PubMed:12231510, PubMed:12718876, PubMed:14651849, PubMed:15268862, PubMed:15467718, PubMed:15545625, PubMed:15718470, PubMed:18497260, PubMed:18762023, PubMed:18925875, PubMed:20516213, PubMed:20537536, PubMed:21659604, PubMed:23429703, PubMed:23429704, PubMed:25799227, PubMed:26018084). MTOR directly or indirectly regulates the phosphorylation of at least 800 proteins. Functions as part of 2 structurally and functionally distinct signaling complexes mTORC1 and mTORC2 (mTOR complex 1 and 2) (PubMed:15268862, PubMed:15467718, PubMed:18925875, PubMed:18497260, PubMed:20516213, PubMed:21576368, PubMed:21659604, PubMed:23429704). Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis (PubMed:12087098, PubMed:12150925, PubMed:12150926, PubMed:12231510, PubMed:12718876, PubMed:14651849, PubMed:15268862, PubMed:15467718, PubMed:15545625, PubMed:15718470, PubMed:18497260, PubMed:18762023, PubMed:18925875, PubMed:20516213, PubMed:20537536, PubMed:21659604, PubMed:23429703, PubMed:23429704, PubMed:25799227, PubMed:26018084). This includes phosphorylation of EIF4EBP1 and release of its inhibition toward the elongation initiation factor 4E (eiF4E) (By similarity). 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 (PubMed:12150925, PubMed:12087098, PubMed:18925875). This also includes mTORC1 signaling cascade controlling the MiT/TFE factors TFEB and TFE3: in the presence of nutrients, mediates phosphorylation of TFEB and TFE3, promoting their cytosolic retention and inactivation (PubMed:22576015, PubMed:22343943, PubMed:22692423). Upon starvation or lysosomal stress, inhibition of mTORC1 induces dephosphorylation and nuclear translocation of TFEB and TFE3, promoting their transcription factor activity (PubMed:22576015, PubMed:22343943, PubMed:22692423). 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 (PubMed:23429704, PubMed:23429703). Regulates ribosome synthesis by activating RNA polymerase III-dependent transcription through phosphorylation and inhibition of MAF1 an RNA polymerase III-repressor (PubMed:20516213). In parallel to protein synthesis, also regulates lipid synthesis through SREBF1/SREBP1 and LPIN1 (By similarity). To maintain energy homeostasis mTORC1 may also regulate mitochondrial biogenesis through regulation of PPARGC1A (By similarity). mTORC1 also negatively regulates autophagy through phosphorylation of ULK1 (By similarity). Under nutrient sufficiency, phosphorylates ULK1 at 'Ser-758', disrupting the interaction with AMPK and preventing activation of ULK1 (By similarity). Also prevents autophagy through phosphorylation of the autophagy inhibitor DAP (PubMed:20537536). Also prevents autophagy by phosphorylating RUBCNL/Pacer under nutrient-rich conditions (PubMed:30704899). mTORC1 exerts a feedback control on upstream growth factor signaling that includes phosphorylation and activation of GRB10 a INSR-dependent signaling suppressor (PubMed:21659604). Among other potential targets mTORC1 may phosphorylate CLIP1 and regulate microtubules (PubMed:12231510). As part of the mTORC2 complex MTOR may regulate other cellular processes including survival and organization of the cytoskeleton (PubMed:15268862, PubMed:15467718). 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 (PubMed:15718470). 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 (PubMed:15268862). mTORC2 also regulates the phosphorylation of SGK1 at 'Ser-422' (PubMed:18925875). 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). Phosphorylates SQSTM1, promoting interaction between SQSTM1 and KEAP1 and subsequent inactivation of the BCR(KEAP1) complex (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:12087098, ECO:0000269|PubMed:12150925, ECO:0000269|PubMed:12231510, ECO:0000269|PubMed:15268862, ECO:0000269|PubMed:15467718, ECO:0000269|PubMed:15718470, ECO:0000269|PubMed:18925875, ECO:0000269|PubMed:20516213, ECO:0000269|PubMed:20537536, ECO:0000269|PubMed:21659604, ECO:0000269|PubMed:22343943, ECO:0000269|PubMed:22576015, ECO:0000269|PubMed:22692423};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269|PubMed:12087098, ECO:0000269|PubMed:12150925, ECO:0000269|PubMed:12231510, ECO:0000269|PubMed:15268862, ECO:0000269|PubMed:15467718, ECO:0000269|PubMed:15718470, ECO:0000269|PubMed:18925875, ECO:0000269|PubMed:20516213, ECO:0000269|PubMed:20537536, ECO:0000269|PubMed:21659604};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activation of mTORC1 by growth factors such as insulin involves AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase a potent activator of the protein kinase activity of mTORC1. Insulin-stimulated and amino acid-dependent phosphorylation at Ser-1261 promotes autophosphorylation and the activation of mTORC1. Activation by amino acids requires relocalization of the mTORC1 complex to lysosomes that is mediated by the Ragulator complex, SLC38A9, and the Rag GTPases RRAGA, RRAGB, RRAGC and RRAGD (PubMed:18497260, PubMed:20381137, PubMed:25561175, PubMed:25567906). On the other hand, low cellular energy levels can inhibit mTORC1 through activation of PRKAA1 while hypoxia inhibits mTORC1 through a REDD1-dependent mechanism which may also require PRKAA1. The kinase activity of MTOR within the mTORC1 complex is positively regulated by MLST8 and negatively regulated by DEPTOR and AKT1S1. MTOR phosphorylates RPTOR which in turn inhibits mTORC1. MTOR is the target of the immunosuppressive and anti-cancer drug rapamycin which acts in complex with FKBP1A/FKBP12, and specifically inhibits its kinase activity. mTORC2 is also activated by growth factors, but seems to be nutrient-insensitive. It may be regulated by RHEB but in an indirect manner through the PI3K signaling pathway.

Enzyme Numbers (IUBMB) for MTOR Gene

Phenotypes From GWAS Catalog for MTOR Gene

Gene Ontology (GO) - Molecular Function for MTOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001002 RNA polymerase III type 1 promoter sequence-specific DNA binding IDA 20233713
GO:0001003 RNA polymerase III type 2 promoter sequence-specific DNA binding IDA 20233713
GO:0001006 RNA polymerase III type 3 promoter sequence-specific DNA binding IDA 20233713
GO:0001030 RNA polymerase III type 1 promoter DNA binding IDA --
genes like me logo Genes that share ontologies with MTOR: view

Phenotypes for MTOR Gene

MGI mutant phenotypes for MTOR:
inferred from 16 alleles
GenomeRNAi human phenotypes for MTOR:
genes like me logo Genes that share phenotypes with MTOR: view

Human Phenotype Ontology for MTOR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MTOR Gene

MGI Knock Outs for MTOR:
  • Mtor Mtor<tm1.1Koz>
  • Mtor Mtor<tm1.2Seq>
  • Mtor Mtor<tm1Yam>
  • Mtor Mtor<tm1.1Clyn>
  • Mtor Mtor<tm1a(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for MTOR

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTOR

No data available for Transcription Factor Targets and HOMER Transcription for MTOR Gene

Localization for MTOR Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTOR Gene

Endoplasmic reticulum membrane. Peripheral membrane protein. Cytoplasmic side. Golgi apparatus membrane. Peripheral membrane protein. Cytoplasmic side. Mitochondrion outer membrane. Peripheral membrane protein. Cytoplasmic side. Lysosome. Cytoplasm. Nucleus, PML body. Microsome membrane. Lysosome membrane. Note=Shuttles between cytoplasm and nucleus. Accumulates in the nucleus in response to hypoxia (By similarity). Targeting to lysosomes depends on amino acid availability and RRAGA and RRAGB (PubMed:18497260, PubMed:20381137). Lysosome targeting also depends on interaction with MEAK7. Translocates to the lysosome membrane in the presence of TM4SF5 (PubMed:30956113). {ECO:0000250 UniProtKB:Q9JLN9, ECO:0000269 PubMed:18497260, ECO:0000269 PubMed:20381137, ECO:0000269 PubMed:29750193, ECO:0000269 PubMed:30956113}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTOR gene
Compartment Confidence
nucleus 5
cytosol 5
lysosome 5
plasma membrane 4
mitochondrion 4
endoplasmic reticulum 4
golgi apparatus 4
extracellular 3
cytoskeleton 3
endosome 3
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus IBA 21873635
GO:0005635 nuclear envelope IDA 25294810
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 11853878
genes like me logo Genes that share ontologies with MTOR: view

Pathways & Interactions for MTOR Gene

PathCards logo

SuperPathways for MTOR Gene

SuperPathway Contained pathways
1 RET signaling
2 Regulation of lipid metabolism Insulin signaling-generic cascades
.59
.59
.51
.44
.43
.34
3 mTOR signalling
4 Endometrial cancer
.44
5 GAB1 signalosome
genes like me logo Genes that share pathways with MTOR: view

Pathways by source for MTOR Gene

14 GeneGo (Thomson Reuters) pathways for MTOR Gene
  • Development CNTF receptor signaling
  • Development Endothelin-1/EDNRA transactivation of EGFR
  • Development Growth hormone signaling via PI3K/AKT and MAPK cascades
  • Development IGF-1 receptor signaling
  • Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
4 Tocris pathways for MTOR Gene
18 Qiagen pathways for MTOR Gene
  • Akt Signaling
  • AMPK Enzyme Complex Pathway
  • cAMP Pathway
  • ErbB Family Pathway
  • FLT3 Signaling
1 Cell Signaling Technology pathway for MTOR Gene
2 GeneTex pathways for MTOR Gene

SIGNOR curated interactions for MTOR Gene

Gene Ontology (GO) - Biological Process for MTOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth IDA 18762023
GO:0001932 regulation of protein phosphorylation IEA --
GO:0001933 negative regulation of protein phosphorylation IEA --
GO:0001934 positive regulation of protein phosphorylation IEA,IDA 20233713
GO:0001938 positive regulation of endothelial cell proliferation IEA --
genes like me logo Genes that share ontologies with MTOR: view

Drugs & Compounds for MTOR Gene

(106) Drugs for MTOR Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Temsirolimus Approved Pharma Target, inhibitor, Inhibition, Biomarker MTOR inhibitor, mTOR inhibitor; antitumor, mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 0
Everolimus Approved Pharma Target, inhibitor, Biomarker mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1037
Pimecrolimus Approved, Investigational Pharma Target, potentiator, inhibitor 66
Sirolimus Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1377
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0

(18) Additional Compounds for MTOR Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
WYE 687 dihydrochloride
1062161-90-3

(4) Tocris Compounds for MTOR Gene

Compound Action Cas Number
Rapamycin mTOR inhibitor; immunosuppressant 53123-88-9
Temsirolimus mTOR inhibitor; antitumor 162635-04-3
Torin 1 Potent and selective mTOR inhibitor 1222998-36-8
WYE 687 dihydrochloride Potent and selective mTOR inhibitor 1062161-90-3

(37) ApexBio Compounds for MTOR Gene

Compound Action Cas Number
AZD2014 Novel mTOR inhibitor 1009298-59-2
AZD8055 MTOR inhibitor 1009298-09-2
BEZ235 (NVP-BEZ235) PI3K/mTOR inhibitor,ATP-competitve 915019-65-7
BEZ235 Tosylate MTOR/P13K inhibitor 1028385-32-1
Everolimus (RAD001) MTOR inhibitor 159351-69-6
GDC-0349 MTOR inhibitor 1207360-89-1
GDC-0980 (RG7422) Class I PI3K inhibitor for PI3Kα/β/δ/γ 1032754-93-0
GDC-mTOR inhibitor MTOR inhibitor 1207358-59-5
GNE-477 dual PI3K/mTOR inhibitor 1032754-81-6
GNE-493 Pan-PI3K/mTOR inhibitor 1033735-94-2
GSK1059615 PI3K and mTOR inhibitor,potent and reversible 958852-01-2
GSK2126458 PI3K/mTOR inhibitor 1086062-66-9
INK 128 (MLN0128) MTOR(TORC-1/-2) inhibitor,potent and selective 1224844-38-5
KU-0063794 MTORC1 and mTORC2 inhibitor 938440-64-3
LY 303511 MTOR inhibitor 154447-38-8
MHY1485 mTOR activator, autophage inhibitor 326914-06-1
Nordihydroguaiaretic acid Anti-tumor agent;lipoxygenase inhibitor 500-38-9
NVP-BGT226 PI3K/mTOR inhibitor,selective and novel 1245537-68-1
OSI-027 MTORC1/ mTORC2 inhibitor 936890-98-1
Palomid 529 PI3K/Akt/mTOR inhibitor 914913-88-5
PF-04691502 PI3K/mTOR (FRAP) inhibitor 1013101-36-4
PF-05212384 (PKI-587) PI3Kα, PI3Kγ and mTOR inhibitor 1197160-78-3
PI-103 Class I PI3K, mTOR and DNA-PK inhibitor 371935-74-9
PP121 Dual inhibitor of tyrosine and phosphoinositide kinases 1092788-83-4
PP242 MTOR inhibitor, selective and ATP-competitive 1092351-67-1
Rapamycin (Sirolimus) Original antifungal antibiotic 53123-88-9
Ridaforolimus (Deforolimus, MK-8669) MTOR inhibitor 572924-54-0
SAR245409 (XL765) mTOR/PI3K inhibitor 1349796-36-6
Temsirolimus MTOR inhibitor 162635-04-3
Torin 1 MTOR inhibitor,potent and selective 1222998-36-8
Torin 2 MTOR inhibitor,highly potent and selective 1223001-51-1
VS-5584 (SB2343) MTOR/P13K inhibitor,potent and selective 1246560-33-7
WAY-600 MTOR inhibitor 1062159-35-6
WYE-125132 (WYE-132) ATP-competitive mTOR inhibitor, highly potent 1144068-46-1
WYE-354 MTOR inhibitor,potent,ATP-competitive and cell-permeable 1062169-56-5
WYE-687 MTOR inhibitor,ATP-competitive and selective 1062161-90-3
XL388 MTOR inhibitor,highly potent and selective 1251156-08-7
genes like me logo Genes that share compounds with MTOR: view

Drug Products

Transcripts for MTOR Gene

mRNA/cDNA for MTOR Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTOR

Alternative Splicing Database (ASD) splice patterns (SP) for MTOR Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1: - - -
SP2: -
SP3:
SP4:
SP5:

Relevant External Links for MTOR Gene

GeneLoc Exon Structure for
MTOR

Expression for MTOR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTOR Gene

Protein differential expression in normal tissues from HIPED for MTOR Gene

This gene is overexpressed in Nasal epithelium (32.3) and Bone (23.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTOR Gene



Protein tissue co-expression partners for MTOR Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTOR

SOURCE GeneReport for Unigene cluster for MTOR Gene:

Hs.338207

mRNA Expression by UniProt/SwissProt for MTOR Gene:

P42345-MTOR_HUMAN
Tissue specificity: Expressed in numerous tissues, with highest levels in testis.

Evidence on tissue expression from TISSUES for MTOR Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Skin(4.1)
  • Blood(4.1)
  • Muscle(3.7)
  • Kidney(3.6)
  • Intestine(3.5)
  • Heart(3.5)
  • Eye(3.3)
  • Lymph node(3.2)
  • Pancreas(3.2)
  • Lung(3.1)
  • Spleen(3.1)
  • Bone marrow(3)
  • Adrenal gland(2.9)
  • Thyroid gland(2.8)
  • Stomach(2.8)
  • Bone(2.6)
  • Urine(2.2)
  • Gall bladder(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MTOR Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • head
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with MTOR: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MTOR Gene

Orthologs for MTOR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTOR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MTOR 30 31
  • 99.32 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTOR 31
  • 97 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 97 (a)
OneToMany
-- 31
  • 93 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia MTOR 30 31
  • 92.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MTOR 30 31
  • 92.04 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtor 30
  • 90.94 (n)
Mouse
(Mus musculus)
Mammalia Mtor 30 17 31
  • 90.38 (n)
OneToOne
Chicken
(Gallus gallus)
Aves MTOR 30 31
  • 82.3 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTOR 31
  • 95 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtor 30
  • 76.4 (n)
Str.15506 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.9731 30
Zebrafish
(Danio rerio)
Actinopterygii mtor 30 31
  • 78.59 (n)
OneToOne
wufc22h08 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3686 30
Fruit Fly
(Drosophila melanogaster)
Insecta Tor 30 31
  • 57.96 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007873 30
  • 57.39 (n)
Worm
(Caenorhabditis elegans)
Secernentea let-363 31
  • 35 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR420W 30
  • 52.43 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13948g 30
  • 51.4 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOR2 30 31
  • 50.55 (n)
OneToMany
TOR1 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons TOR 30
  • 51.91 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11338 30
Rice
(Oryza sativa)
Liliopsida Os05g0235300 30
  • 55.24 (n)
Os.17756 30
Barley
(Hordeum vulgare)
Liliopsida Hv.1352 30
Wheat
(Triticum aestivum)
Liliopsida Ta.7658 30
Bread mold
(Neurospora crassa)
Ascomycetes NCU05608 30
  • 53.97 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tor2 30
  • 51.97 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4144 30
Species where no ortholog for MTOR was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MTOR Gene

ENSEMBL:
Gene Tree for MTOR (if available)
TreeFam:
Gene Tree for MTOR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTOR: view image

Paralogs for MTOR Gene

Paralogs for MTOR Gene

(3) SIMAP similar genes for MTOR Gene using alignment to 3 proteins:

  • MTOR_HUMAN
  • B1AKP8_HUMAN
  • B1AKQ2_HUMAN
genes like me logo Genes that share paralogs with MTOR: view

Variants for MTOR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTOR Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
638965 Likely Benign: not provided 11,257,022(-) T/C MISSENSE_VARIANT
639135 Uncertain Significance: not provided 11,256,087(-) C/T MISSENSE_VARIANT
639249 Uncertain Significance: not provided 11,204,711(-) C/A INTRON_VARIANT
639469 Uncertain Significance: not provided 11,157,177(-) G/C MISSENSE_VARIANT
639616 Uncertain Significance: not provided 11,204,649(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MTOR Gene

Structural Variations from Database of Genomic Variants (DGV) for MTOR Gene

Variant ID Type Subtype PubMed ID
esv2658000 CNV deletion 23128226
esv3303581 CNV mobile element insertion 20981092
esv3427172 CNV insertion 20981092
esv3585215 CNV loss 21293372
nsv1122297 CNV deletion 24896259
nsv474152 CNV novel sequence insertion 20440878
nsv545407 CNV gain 21841781
nsv945769 CNV duplication 23825009

Variation tolerance for MTOR Gene

Residual Variation Intolerance Score: 0.0904% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.15; 39.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTOR Gene

Human Gene Mutation Database (HGMD)
MTOR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTOR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTOR Gene

Disorders for MTOR Gene

MalaCards: The human disease database

(153) MalaCards diseases for MTOR Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
smith-kingsmore syndrome
  • sks
focal cortical dysplasia, type ii
  • fcord2
kidney cancer
  • renal cell carcinoma
hemimegalencephaly
  • macrencephaly
glioblastoma multiforme
  • adult glioblastoma multiforme
- elite association - COSMIC cancer census association via MalaCards
Search MTOR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MTOR_HUMAN
  • Smith-Kingsmore syndrome (SKS) [MIM:616638]: An autosomal dominant syndrome characterized by intellectual disability, macrocephaly, seizures, umbilical hernia, and facial dysmorphic features. {ECO:0000269 PubMed:25851998, ECO:0000269 PubMed:26542245, ECO:0000269 PubMed:27830187}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Focal cortical dysplasia 2 (FCORD2) [MIM:607341]: A form of focal cortical dysplasia, a malformation of cortical development that results in medically refractory epilepsy in the pediatric population and in adults. FCORD2 is a severe form, with onset usually in childhood, characterized by disrupted cortical lamination and specific cytological abnormalities. It is classified in 2 subtypes: type IIA characterized by dysmorphic neurons and lack of balloon cells; type IIB with dysmorphic neurons and balloon cells. {ECO:0000269 PubMed:25799227, ECO:0000269 PubMed:25878179, ECO:0000269 PubMed:26018084, ECO:0000269 PubMed:27830187}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MTOR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MTOR: view

No data available for Genatlas for MTOR Gene

Publications for MTOR Gene

  1. A mammalian protein targeted by G1-arresting rapamycin-receptor complex. (PMID: 8008069) Brown EJ … Schreiber SL (Nature 1994) 2 3 4 23
  2. Dissecting the role of mTOR: lessons from mTOR inhibitors. (PMID: 20005306) Dowling RJ … Sonenberg N (Biochimica et biophysica acta 2010) 3 23 26
  3. Site-specific mTOR phosphorylation promotes mTORC1-mediated signaling and cell growth. (PMID: 19487463) Acosta-Jaquez HA … Fingar DC (Molecular and cellular biology 2009) 3 4 23
  4. Genetic variations in the PI3K/PTEN/AKT/mTOR pathway are associated with clinical outcomes in esophageal cancer patients treated with chemoradiotherapy. (PMID: 19164214) Hildebrandt MA … Wu X (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009) 3 23 41
  5. mTOR complex 2 (mTORC2) controls hydrophobic motif phosphorylation and activation of serum- and glucocorticoid-induced protein kinase 1 (SGK1). (PMID: 18925875) García-Martínez JM … Alessi DR (The Biochemical journal 2008) 3 4 23

Products for MTOR Gene