Version: 8.0.0Date: Tue Jan 28 2025
Gene
MTOR
- Species
- Homo sapiens
- Symbol
- MTOR
- Name
- mechanistic target of rapamycin kinase
- Synonyms
- FK506 binding protein 12-rapamycin associated protein 1
- FK506 binding protein 12-rapamycin associated protein 2
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including RNA polymerase III cis-regulatory region sequence-specific DNA binding activity; TFIIIC-class transcription factor complex binding activity; and protein kinase activity. Involved in several processes, including TOR signaling; positive regulation of biosynthetic process; and regulation of organelle organization. Acts upstream of or within negative regulation of macroautophagy. Located in several cellular components, including endomembrane system; lysosome; and phagocytic vesicle. Part of TORC1 complex; TORC2 complex; and nuclear envelope. Is active in several cellular components, including cytosol; endoplasmic reticulum; and lysosomal membrane. Implicated in autosomal dominant polycystic kidney disease; kidney angiomyolipoma; lung disease (multiple); prostate cancer; and type 2 diabetes mellitus. Biomarker of congestive heart failure; hepatocellular carcinoma; high grade glioma; interstitial cystitis; and renal cell carcinoma.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR11139
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
Phenotype Term | Annotation details | References |
|---|---|---|
| No records match query. Try removing filters. | ||
Showing 0 - 0 of 0 rows
per page
Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||||
Showing 0 - 0 of 0 rows
per page
Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
|---|---|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||||
Showing 0 - 0 of 0 rows
per page
Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
|---|---|---|---|---|---|
| No records match query. Try removing filters. | |||||
Showing 0 - 0 of 0 rows
per page
Sequence Feature Viewer
- Genome location
- Chr1:11106535...11262556 - (156.02 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.