Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

serine/threonine-protein kinase mTOR

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]

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Smith-Kingsmore syndrome
MTOR
Isolated focal cortical dysplasia type 2
MTOR
TSC1
TSC2

References:

1.

Cinà DP et al. (2012) Inhibition of MTOR disrupts autophagic flux in podocytes.

external link
2.

Bar-Peled L et al. (2013) A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1.

external link
3.

Yang H et al. (2013) mTOR kinase structure, mechanism and regulation.

external link
4.

Robitaille AM et al. (2013) Quantitative phosphoproteomics reveal mTORC1 activates de novo pyrimidine synthesis.

external link
5.

Ben-Sahra I et al. (2013) Stimulation of de novo pyrimidine synthesis by growth signaling through mTOR and S6K1.

external link
6.

Efeyan A et al. (2013) Regulation of mTORC1 by the Rag GTPases is necessary for neonatal autophagy and survival.

external link
7.

Fetalvero KM et al. (2013) Defective autophagy and mTORC1 signaling in myotubularin null mice.

external link
8.

Lee JH et al. (2012) De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

external link
9.

Yilmaz ÖH et al. (2012) mTORC1 in the Paneth cell niche couples intestinal stem-cell function to calorie intake.

external link
10.

Thoreen CC et al. (2012) A unifying model for mTORC1-mediated regulation of mRNA translation.

external link
11.

Lamming DW et al. (2012) Rapamycin-induced insulin resistance is mediated by mTORC2 loss and uncoupled from longevity.

external link
12.

Hsieh AC et al. (2012) The translational landscape of mTOR signalling steers cancer initiation and metastasis.

external link
13.

Zeng H et al. (2013) mTORC1 couples immune signals and metabolic programming to establish T(reg)-cell function.

external link
14.

Zoncu R et al. (2011) mTORC1 senses lysosomal amino acids through an inside-out mechanism that requires the vacuolar H(+)-ATPase.

external link
15.

Yu Y et al. (2011) Phosphoproteomic analysis identifies Grb10 as an mTORC1 substrate that negatively regulates insulin signaling.

external link
16.

Hsu PP et al. (2011) The mTOR-regulated phosphoproteome reveals a mechanism of mTORC1-mediated inhibition of growth factor signaling.

external link
17.

Lucanic M et al. (2011) N-acylethanolamine signalling mediates the effect of diet on lifespan in Caenorhabditis elegans.

external link
18.

Narita M et al. (2011) Spatial coupling of mTOR and autophagy augments secretory phenotypes.

external link
19.

Jiao Y et al. (2011) DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors.

external link
20.

Sengupta S et al. (2010) mTORC1 controls fasting-induced ketogenesis and its modulation by ageing.

external link
21.

Sathaliyawala T et al. (2010) Mammalian target of rapamycin controls dendritic cell development downstream of Flt3 ligand signaling.

external link
22.

Li N et al. (2010) mTOR-dependent synapse formation underlies the rapid antidepressant effects of NMDA antagonists.

external link
23.

Yu L et al. (2010) Termination of autophagy and reformation of lysosomes regulated by mTOR.

external link
24.

Dowling RJ et al. (2010) mTORC1-mediated cell proliferation, but not cell growth, controlled by the 4E-BPs.

external link
25.

Mroske C et al. (2015) Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.

external link
26.

Terenzio M et al. (2018) Locally translated mTOR controls axonal local translation in nerve injury.

external link
27.

Gu X et al. (2017) {'i': ['S'], 'content': 'SAMTOR is an -adenosylmethionine sensor for the mTORC1 pathway.'}

external link
28.

Prouteau M et al. (2017) TORC1 organized in inhibited domains (TOROIDs) regulate TORC1 activity.

external link
29.

Di Malta C et al. (2017) Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth.

external link
30.

Castellano BM et al. (2017) Lysosomal cholesterol activates mTORC1 via an SLC38A9-Niemann-Pick C1 signaling complex.

external link
31.

Møller RS et al. (2016) Germline and somatic mutations in the gene in focal cortical dysplasia and epilepsy.

external link
32.

Moosa S et al. (2017) Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism.

external link
33.

Mirzaa GM et al. (2016) Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

external link
34.

Chantranupong L et al. (2016) The CASTOR Proteins Are Arginine Sensors for the mTORC1 Pathway.

external link
35.

Ben-Sahra I et al. (2016) mTORC1 induces purine synthesis through control of the mitochondrial tetrahydrofolate cycle.

external link
36.

Aylett CH et al. (2016) Architecture of human mTOR complex 1.

external link
37.

Heublein S et al. (2010) Proton-assisted amino-acid transporters are conserved regulators of proliferation and amino-acid-dependent mTORC1 activation.

external link
38.

Schweitzer LD et al. (2015) Disruption of the Rag-Ragulator Complex by c17orf59 Inhibits mTORC1.

external link
39.

Nakashima M et al. (2015) Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

external link
40.

Leventer RJ et al. (2015) Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

external link
41.

Baynam G et al. (2015) A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces.

external link
42.

Lim JS et al. (2015) Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.

external link
43.

Jewell JL et al. (2015) Metabolism. Differential regulation of mTORC1 by leucine and glutamine.

external link
44.

Wang S et al. (2015) Metabolism. Lysosomal amino acid transporter SLC38A9 signals arginine sufficiency to mTORC1.

external link
45.

Rebsamen M et al. (2015) SLC38A9 is a component of the lysosomal amino acid sensing machinery that controls mTORC1.

external link
46.

Liang N et al. (2014) Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex.

external link
47.

Kye MJ et al. (2014) SMN regulates axonal local translation via miR-183/mTOR pathway.

external link
48.

Thedieck K et al. (2013) Inhibition of mTORC1 by astrin and stress granules prevents apoptosis in cancer cells.

external link
49.

Kim DH et al. (2002) mTOR interacts with raptor to form a nutrient-sensitive complex that signals to the cell growth machinery.

external link
50.

Gangloff YG et al. (2004) Disruption of the mouse mTOR gene leads to early postimplantation lethality and prohibits embryonic stem cell development.

external link
51.

Jacinto E et al. (2004) Mammalian TOR complex 2 controls the actin cytoskeleton and is rapamycin insensitive.

external link
52.

Hay N et al. (2004) Upstream and downstream of mTOR.

external link
53.

Scott RC et al. (2004) Role and regulation of starvation-induced autophagy in the Drosophila fat body.

external link
54.

Sarbassov DD et al. (2004) Rictor, a novel binding partner of mTOR, defines a rapamycin-insensitive and raptor-independent pathway that regulates the cytoskeleton.

external link
55.

Murakami M et al. (2004) mTOR is essential for growth and proliferation in early mouse embryos and embryonic stem cells.

external link
56.

Ravikumar B et al. (2004) Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease.

external link
57.

Vellai T et al. (2003) Genetics: influence of TOR kinase on lifespan in C. elegans.

external link
58.

Kwon CH et al. (2003) mTor is required for hypertrophy of Pten-deficient neuronal soma in vivo.

external link
59.

Kim DH et al. (2003) GbetaL, a positive regulator of the rapamycin-sensitive pathway required for the nutrient-sensitive interaction between raptor and mTOR.

external link
60.

Hara K et al. (2002) Raptor, a binding partner of target of rapamycin (TOR), mediates TOR action.

external link
61.

Brugarolas J et al. (2004) Regulation of mTOR function in response to hypoxia by REDD1 and the TSC1/TSC2 tumor suppressor complex.

external link
62.

Fingar DC et al. (2002) Mammalian cell size is controlled by mTOR and its downstream targets S6K1 and 4EBP1/eIF4E.

external link
63.

Fang Y et al. (2001) Phosphatidic acid-mediated mitogenic activation of mTOR signaling.

external link
64.

Dennis PB et al. (2001) Mammalian TOR: a homeostatic ATP sensor.

external link
65.

Castedo M et al. (2001) Human immunodeficiency virus 1 envelope glycoprotein complex-induced apoptosis involves mammalian target of rapamycin/FKBP12-rapamycin-associated protein-mediated p53 phosphorylation.

external link
66.

Onyango P et al. (1998) Molecular cloning and expression analysis of five novel genes in chromosome 1p36.

external link
67.

Lench NJ et al. (1997) The human gene encoding FKBP-rapamycin associated protein (FRAP) maps to chromosomal band 1p36.2.

external link
68.

Moore PA et al. (1996) Assignment of the human FKBP12-rapamycin-associated protein (FRAP) gene to chromosome 1p36 by fluorescence in situ hybridization.

external link
69.

Brown EJ et al. (1994) A mammalian protein targeted by G1-arresting rapamycin-receptor complex.

external link
70.

Sabatini DM et al. (1994) RAFT1: a mammalian protein that binds to FKBP12 in a rapamycin-dependent fashion and is homologous to yeast TORs.

external link
71.

Zhang Y et al. (2014) Coordinated regulation of protein synthesis and degradation by mTORC1.

external link
72.

Raab-Graham KF et al. (2006) Activity- and mTOR-dependent suppression of Kv1.1 channel mRNA translation in dendrites.

external link
73.

None (2008) Rapamycin and tuberous sclerosis complex: from Easter Island to epilepsy.

external link
74.

Lee JH et al. (2010) Sestrin as a feedback inhibitor of TOR that prevents age-related pathologies.

external link
75.

Rao RR et al. (2010) The mTOR kinase determines effector versus memory CD8+ T cell fate by regulating the expression of transcription factors T-bet and Eomesodermin.

external link
76.

Harrison DE et al. (2009) Rapamycin fed late in life extends lifespan in genetically heterogeneous mice.

external link
77.

Scott KL et al. (2009) GOLPH3 modulates mTOR signalling and rapamycin sensitivity in cancer.

external link
78.

Araki K et al. (2009) mTOR regulates memory CD8 T-cell differentiation.

external link
79.

Delgoffe GM et al. (2009) The mTOR kinase differentially regulates effector and regulatory T cell lineage commitment.

external link
80.

Rosner M et al. (2009) Functional interaction of mammalian target of rapamycin complexes in regulating mammalian cell size and cell cycle.

external link
81.

DiBella LM et al. (2009) Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway.

external link
82.

Park KK et al. (2008) Promoting axon regeneration in the adult CNS by modulation of the PTEN/mTOR pathway.

external link
83.

Mao JH et al. (2008) FBXW7 targets mTOR for degradation and cooperates with PTEN in tumor suppression.

external link
84.

Sancak Y et al. (2008) The Rag GTPases bind raptor and mediate amino acid signaling to mTORC1.

external link
85.

Rodgers JT et al. (2014) mTORC1 controls the adaptive transition of quiescent stem cells from G0 to G(Alert).

external link
86.

Cunningham JT et al. (2007) mTOR controls mitochondrial oxidative function through a YY1-PGC-1alpha transcriptional complex.

external link
87.

Bai X et al. (2007) Rheb activates mTOR by antagonizing its endogenous inhibitor, FKBP38.

external link
88.

Høyer-Hansen M et al. (2007) Control of macroautophagy by calcium, calmodulin-dependent kinase kinase-beta, and Bcl-2.

external link
89.

Laviano A et al. (2006) Role of leucine in regulating food intake.

external link
90.

Bernardi R et al. (2006) PML inhibits HIF-1alpha translation and neoangiogenesis through repression of mTOR.

external link
91.

Li H et al. (2006) Nutrient regulates Tor1 nuclear localization and association with rDNA promoter.

external link
92.

Cota D et al. (2006) Hypothalamic mTOR signaling regulates food intake.

external link
93.

Holz MK et al. (2005) mTOR and S6K1 mediate assembly of the translation preinitiation complex through dynamic protein interchange and ordered phosphorylation events.

external link
94.

Beuvink I et al. (2005) The mTOR inhibitor RAD001 sensitizes tumor cells to DNA-damaged induced apoptosis through inhibition of p21 translation.

external link
95.

Sarbassov DD et al. (2005) Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex.

external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues