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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]
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.
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.
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 | -- |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
|
2 | Regulation of lipid metabolism Insulin signaling-generic cascades |
Regulation of lipid metabolism Insulin signaling-generic cascades
.59
Translation Insulin regulation of translation
.59
Transcription Receptor-mediated HIF regulation
.51
Translation Regulation of EIF4F activity
.44
|
Development CNTF receptor signaling
.43
Development Growth hormone signaling via PI3K/AKT and MAPK cascades
.34
|
3 | mTOR signalling |
.72
|
.51
|
4 | Endometrial cancer |
Signal transduction PTEN pathway
.44
|
.32
|
5 | GAB1 signalosome |
.89
|
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 | -- |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
WYE 687 dihydrochloride |
|
1062161-90-3 |
|
|
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 |
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 |
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: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MTOR 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MTOR 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | MTOR 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MTOR 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mtor 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mtor 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MTOR 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MTOR 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mtor 30 |
|
||
Str.15506 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.9731 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mtor 30 31 |
|
OneToOne | |
wufc22h08 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3686 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Tor 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007873 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | let-363 31 |
|
ManyToMany | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR420W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B13948g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TOR2 30 31 |
|
OneToMany | |
TOR1 33 |
|
|
|||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | TOR 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.11338 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os05g0235300 30 |
|
||
Os.17756 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.1352 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.7658 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU05608 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | tor2 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4144 30 |
|
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
smith-kingsmore syndrome |
|
|
focal cortical dysplasia, type ii |
|
|
kidney cancer |
|
|
hemimegalencephaly |
|
|
glioblastoma multiforme |
|