ENSG00000198793


Homo sapiens

Features
Gene ID: ENSG00000198793
  
Biological name :MTOR
  
Synonyms : mechanistic target of rapamycin kinase / MTOR / P42345
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p36.22
Gene start: 11106535
Gene end: 11262507
  
Corresponding Affymetrix probe sets: 202288_at (Human Genome U133 Plus 2.0 Array)   215381_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000354558
Ensembl peptide - ENSP00000398745
Ensembl peptide - ENSP00000366034
NCBI entrez gene - 2475     See in Manteia.
OMIM - 601231
RefSeq - XM_005263438
RefSeq - XM_017000901
RefSeq - NM_004958
RefSeq - XM_017000900
RefSeq Peptide - NP_004949
swissprot - P42345
swissprot - B1AKQ2
swissprot - B1AKP8
Ensembl - ENSG00000198793
  
Related genetic diseases (OMIM): 607341 - Focal cortical dysplasia, type II, somatic, 607341
  616638 - Smith-Kingsmore syndrome, 616638
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mtorENSDARG00000053196Danio rerio
 MTORENSGALG00000003339Gallus gallus
 MtorENSMUSG00000028991Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SMG1 / Q96Q15 / SMG1, nonsense mediated mRNA decay associated PI3K related kinaseENSG0000015710617


Protein motifs (from Interpro)
Interpro ID Name
 IPR000403  Phosphatidylinositol 3-/4-kinase, catalytic domain
 IPR003151  PIK-related kinase, FAT
 IPR003152  FATC domain
 IPR009076  FKBP12-rapamycin binding domain
 IPR011009  Protein kinase-like domain superfamily
 IPR011989  Armadillo-like helical
 IPR014009  PIK-related kinase
 IPR016024  Armadillo-type fold
 IPR018936  Phosphatidylinositol 3/4-kinase, conserved site
 IPR024585  Domain of unknown function DUF3385, target of rapamycin protein
 IPR026683  Serine/threonine-protein kinase TOR
 IPR036738  FKBP12-rapamycin binding domain superfamily
 IPR036940  Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001558 regulation of cell growth IDA
 biological_processGO:0001932 regulation of protein phosphorylation IEA
 biological_processGO:0001933 negative regulation of protein phosphorylation IEA
 biological_processGO:0001934 positive regulation of protein phosphorylation IEA
 biological_processGO:0001938 positive regulation of endothelial cell proliferation IEA
 biological_processGO:0003007 heart morphogenesis IEA
 biological_processGO:0003179 heart valve morphogenesis IEA
 biological_processGO:0005979 regulation of glycogen biosynthetic process IEA
 biological_processGO:0006109 regulation of carbohydrate metabolic process IEA
 biological_processGO:0006112 energy reserve metabolic process IEA
 biological_processGO:0006207 "de novo" pyrimidine nucleobase biosynthetic process IEA
 biological_processGO:0006281 DNA repair IBA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0007050 cell cycle arrest TAS
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0007281 germ cell development IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007569 cell aging IEA
 biological_processGO:0007584 response to nutrient NAS
 biological_processGO:0007616 long-term memory IEA
 biological_processGO:0008361 regulation of cell size IMP
 biological_processGO:0008542 visual learning IEA
 biological_processGO:0009267 cellular response to starvation IDA
 biological_processGO:0009791 post-embryonic development IEA
 biological_processGO:0010507 negative regulation of autophagy IMP
 biological_processGO:0010592 positive regulation of lamellipodium assembly IEA
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0010718 positive regulation of epithelial to mesenchymal transition IMP
 biological_processGO:0010831 positive regulation of myotube differentiation IEA
 biological_processGO:0010942 positive regulation of cell death IEA
 biological_processGO:0010976 positive regulation of neuron projection development IEA
 biological_processGO:0014042 positive regulation of neuron maturation IEA
 biological_processGO:0014736 negative regulation of muscle atrophy IEA
 biological_processGO:0016241 regulation of macroautophagy TAS
 biological_processGO:0016242 negative regulation of macroautophagy IDA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0018105 peptidyl-serine phosphorylation IEA
 biological_processGO:0018107 peptidyl-threonine phosphorylation IEA
 biological_processGO:0021510 spinal cord development IEA
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0030163 protein catabolic process TAS
 biological_processGO:0030838 positive regulation of actin filament polymerization IEA
 biological_processGO:0031397 negative regulation of protein ubiquitination IEA
 biological_processGO:0031529 ruffle organization IEA
 biological_processGO:0031641 regulation of myelination IEA
 biological_processGO:0031669 cellular response to nutrient levels IEA
 biological_processGO:0031929 TOR signaling IEA
 biological_processGO:0031998 regulation of fatty acid beta-oxidation IEA
 biological_processGO:0032095 regulation of response to food IEA
 biological_processGO:0032148 activation of protein kinase B activity TAS
 biological_processGO:0032516 positive regulation of phosphoprotein phosphatase activity TAS
 biological_processGO:0032868 response to insulin IEA
 biological_processGO:0032956 regulation of actin cytoskeleton organization IMP
 biological_processGO:0034198 cellular response to amino acid starvation IDA
 biological_processGO:0035176 social behavior IEA
 biological_processGO:0035264 multicellular organism growth IEA
 biological_processGO:0038202 TORC1 signaling IDA
 biological_processGO:0040007 growth NAS
 biological_processGO:0042060 wound healing IEA
 biological_processGO:0042220 response to cocaine IEA
 biological_processGO:0043087 regulation of GTPase activity IEA
 biological_processGO:0043200 response to amino acid IDA
 biological_processGO:0043276 anoikis NAS
 biological_processGO:0043278 response to morphine IEA
 biological_processGO:0043610 regulation of carbohydrate utilization IEA
 biological_processGO:0045429 positive regulation of nitric oxide biosynthetic process IEA
 biological_processGO:0045670 regulation of osteoclast differentiation IEA
 biological_processGO:0045727 positive regulation of translation IEA
 biological_processGO:0045792 negative regulation of cell size IEA
 biological_processGO:0045859 regulation of protein kinase activity IEA
 biological_processGO:0045945 positive regulation of transcription by RNA polymerase III IMP
 biological_processGO:0046777 protein autophosphorylation IDA
 biological_processGO:0046889 positive regulation of lipid biosynthetic process IMP
 biological_processGO:0048255 mRNA stabilization IEA
 biological_processGO:0048661 positive regulation of smooth muscle cell proliferation IEA
 biological_processGO:0048714 positive regulation of oligodendrocyte differentiation IEA
 biological_processGO:0048738 cardiac muscle tissue development IEA
 biological_processGO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0050769 positive regulation of neurogenesis IEA
 biological_processGO:0050882 voluntary musculoskeletal movement IEA
 biological_processGO:0051496 positive regulation of stress fiber assembly IEA
 biological_processGO:0051549 positive regulation of keratinocyte migration IMP
 biological_processGO:0051896 regulation of protein kinase B signaling IEA
 biological_processGO:0051897 positive regulation of protein kinase B signaling IEA
 biological_processGO:0055006 cardiac cell development IEA
 biological_processGO:0055013 cardiac muscle cell development IEA
 biological_processGO:0060048 cardiac muscle contraction IEA
 biological_processGO:0060135 maternal process involved in female pregnancy IEA
 biological_processGO:0060252 positive regulation of glial cell proliferation IEA
 biological_processGO:0060999 positive regulation of dendritic spine development IEA
 biological_processGO:0061051 positive regulation of cell growth involved in cardiac muscle cell development IEA
 biological_processGO:0071230 cellular response to amino acid stimulus IDA
 biological_processGO:0071233 cellular response to leucine IDA
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0090335 regulation of brown fat cell differentiation IEA
 biological_processGO:0090559 regulation of membrane permeability IEA
 biological_processGO:1900034 regulation of cellular response to heat TAS
 biological_processGO:1901216 positive regulation of neuron death IEA
 biological_processGO:1901838 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I IMP
 biological_processGO:1903691 positive regulation of wound healing, spreading of epidermal cells IMP
 biological_processGO:1904000 positive regulation of eating behavior IEA
 biological_processGO:1904056 positive regulation of cholangiocyte proliferation IEA
 biological_processGO:1904058 positive regulation of sensory perception of pain IEA
 biological_processGO:1904193 negative regulation of cholangiocyte apoptotic process IEA
 biological_processGO:1904197 positive regulation of granulosa cell proliferation IEA
 biological_processGO:1904206 positive regulation of skeletal muscle hypertrophy IEA
 biological_processGO:1904213 negative regulation of iodide transmembrane transport IEA
 biological_processGO:1904690 positive regulation of cytoplasmic translational initiation TAS
 biological_processGO:1990253 cellular response to leucine starvation IDA
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005741 mitochondrial outer membrane IEA
 cellular_componentGO:0005764 lysosome IMP
 cellular_componentGO:0005765 lysosomal membrane HDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005942 phosphatidylinositol 3-kinase complex NAS
 cellular_componentGO:0012505 endomembrane system IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016605 PML body ISS
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0031090 organelle membrane IEA
 cellular_componentGO:0031931 TORC1 complex IEA
 cellular_componentGO:0031932 TORC2 complex IDA
 cellular_componentGO:0032991 protein-containing complex IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0001030 RNA polymerase III type 1 promoter DNA binding IDA
 molecular_functionGO:0001031 RNA polymerase III type 2 promoter DNA binding IDA
 molecular_functionGO:0001032 RNA polymerase III type 3 promoter DNA binding IDA
 molecular_functionGO:0001156 TFIIIC-class transcription factor binding IDA
 molecular_functionGO:0004672 protein kinase activity IDA
 molecular_functionGO:0004674 protein serine/threonine kinase activity IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019901 protein kinase binding IEA
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0043022 ribosome binding IEA
 molecular_functionGO:0044877 protein-containing complex binding IEA
 molecular_functionGO:0051219 phosphoprotein binding IPI


Pathways (from Reactome)
Pathway description
PIP3 activates AKT signaling
Macroautophagy
mTOR signalling
mTORC1-mediated signalling
HSF1-dependent transactivation
Energy dependent regulation of mTOR by LKB1-AMPK
CD28 dependent PI3K/Akt signaling
VEGFR2 mediated vascular permeability
TP53 Regulates Metabolic Genes
Constitutive Signaling by AKT1 E17K in Cancer
Regulation of TP53 Degradation
Regulation of PTEN gene transcription


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000154 Wide mouth "Abnormally wide mouth." [HPO:curators]
Show

 HP:0000219 Thin upper lip 
Show

 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
Show

 HP:0000260 Wide anterior fontanel "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators]
Show

 HP:0000316 Hypertelorism 
Show

 HP:0000319 Flat philtrum 
Show

 HP:0000331 Small chin 
Show

 HP:0000343 Long philtrum 
Show

 HP:0000348 High forehead "An abnormally increased height of the forehead." [HPO:curators]
Show

 HP:0000494 Downward slanting palpebral fissures 
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 HP:0000957 Cafe-au-lait spots 
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001269 Hemiparesis "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators]
Show

 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
Show

 HP:0001428 Somatic mutation 
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 HP:0001869 Deep plantar creases 
Show

 HP:0001873 Thrombocytopenia 
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 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
Show

 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002212 Curly hair 
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 HP:0002384 Complex partial seizures "A `partial seizure` (HP:0007359) characterized by impairment or loss of consciousness." [HPO:curators]
Show

 HP:0002446 Astrocytosis 
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 HP:0002539 Cortical dysplasia 
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 HP:0002720 Decreased IgA 
Show

 HP:0003196 Nasal hypoplasia "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson]
Show

 HP:0003581 Onset in adulthood 
Show

 HP:0003593 Early onset 
Show

 HP:0003745 Sporadic 
Show

 HP:0005280 Depressed nasal root and bridge 
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 HP:0006191 Deep palmar creases "An increased depth of the palmar creases." [HPO:curators]
Show

 HP:0007042 Focal white matter lesions 
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 HP:0008905 Rhizomelic short stature 
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 HP:0010241 Hypoplasia of the proximal phalanges of the hand 
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 HP:0011800 Midface retrusion "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith]
Show

 HP:0012650 Perisylvian polymicrogyria "An excessive number of small gyri (convolutions) on the surface of the brain in the region surrounding the sylvian fissures." [HPO:probinson, pmid:15159468]
Show

 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000023287 Q8TDY2 / RB1CC1 / RB1 inducible coiled-coil 1  / complex / reaction
 ENSG00000111725 PRKAB1 / Q9Y478 / protein kinase AMP-activated non-catalytic subunit beta 1  / reaction
 ENSG00000131791 O43741 / PRKAB2 / protein kinase AMP-activated non-catalytic subunit beta 2  / reaction
 ENSG00000115592 PRKAG3 / Q9UGI9 / protein kinase AMP-activated non-catalytic subunit gamma 3  / reaction
 ENSG00000106615 RHEB / Q15382 / Ras homolog, mTORC1 binding  / reaction / complex
 ENSG00000167965 MLST8 / Q9BVC4 / MTOR associated protein, LST8 homolog  / complex
 ENSG00000106617 PRKAG2 / Q9UGJ0 / protein kinase AMP-activated non-catalytic subunit gamma 2  / reaction
 ENSG00000141564 RPTOR / Q8N122 / regulatory associated protein of MTOR complex 1  / complex
 ENSG00000132356 PRKAA1 / Q13131 / protein kinase AMP-activated catalytic subunit alpha 1  / reaction
 ENSG00000181929 P54619 / PRKAG1 / protein kinase AMP-activated non-catalytic subunit gamma 1  / reaction
 ENSG00000123395 ATG101 / Q9BSB4 / autophagy related 101  / reaction / complex
 ENSG00000204673 AKT1S1 / Q96B36 / AKT1 substrate 1  / complex / reaction
 ENSG00000177169 ULK1 / O75385 / unc-51 like autophagy activating kinase 1  / reaction / complex
 ENSG00000142208 AKT1 / P31749 / AKT serine/threonine kinase 1  / reaction
 ENSG00000166913 YWHAB / P31946 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta  / complex / reaction
 ENSG00000175224 ATG13 / O75143 / autophagy related 13  / complex / reaction
 ENSG00000108443 P23443 / RPS6KB1 / ribosomal protein S6 kinase B1  / reaction
 ENSG00000155876 RRAGA / Q7L523 / Ras related GTP binding A  / reaction / complex
 ENSG00000151247 EIF4E / P06730 / eukaryotic translation initiation factor 4E  / reaction
 ENSG00000083750 RRAGB / Q5VZM2 / Ras related GTP binding B  / complex / reaction
 ENSG00000198793 MTOR / P42345 / mechanistic target of rapamycin kinase  / complex
 ENSG00000025039 RRAGD / Q9NQL2 / Ras related GTP binding D  / complex / reaction
 ENSG00000118515 SGK1 / O00141 / serum/glucocorticoid regulated kinase 1  / reaction
 ENSG00000187840 Q13541 / EIF4EBP1 / eukaryotic translation initiation factor 4E binding protein 1  / reaction
 ENSG00000116954 RRAGC / Q9HB90 / Ras related GTP binding C  / reaction / complex
 ENSG00000179632 MAF1 / Q9H063 / MAF1 homolog, negative regulator of RNA polymerase III  / reaction
 ENSG00000177058 Q8NBW4 / SLC38A9 / solute carrier family 38 member 9  / complex / reaction
 ENSG00000185122 HSF1 / Q00613 / heat shock transcription factor 1  / reaction
 ENSG00000162409 P54646 / PRKAA2 / protein kinase AMP-activated catalytic subunit alpha 2  / reaction






 

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