MTOR - mechanistic target of rapamycin kinase Gene
Also Known as SKS; FRAP; FRAP1; FRAP2; RAFT1; RAPT1
Species: Homo sapiens
About MTOR
This gene has 16 transcripts (splice variants), 217 orthologues, 5 paralogues and is associated with 155 phenotypes. Broad expression in testis (RPKM 23.6), brain (RPKM 8.1) and 25 other tissues.
Summary
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]
MTOR Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001386500.1 | NP_001373429.1 | serine/threonine-protein kinase mTOR isoform 1 |
| XM_011541166.3 | XP_011539468.1 | serine/threonine-protein kinase mTOR isoform X4 |
| XM_047416724.1 | XP_047272680.1 | serine/threonine-protein kinase mTOR isoform X3 |
| NM_001386501.1 | NP_001373430.1 | serine/threonine-protein kinase mTOR isoform 2 |
| XR_007058581.1 | ||
| NM_004958.4 | NP_004949.1 | serine/threonine-protein kinase mTOR isoform 1 |
| XM_017000900.1 | XP_016856389.1 | serine/threonine-protein kinase mTOR isoform X2 |
| XM_047416721.1 | XP_047272677.1 | serine/threonine-protein kinase mTOR isoform X1 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of TORC1 complex |
IDA
IDA: Inferred from direct assay
|
12150926 | GOA |
| part of TORC1 complex |
IMP
IMP: Inferred from mutant phenotype
|
20537536 | GOA |
| part of TORC1 complex |
IPI
IPI: Inferred from physical interaction
|
26678875 | GOA |
| part of TORC2 complex |
IDA
IDA: Inferred from direct assay
|
15467718 | GOA |
| part of TORC2 complex |
IPI
IPI: Inferred from physical interaction
|
17461779 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
11853878 | GOA |
| is active in cytosol |
IDA
IDA: Inferred from direct assay
|
30956113 | GOA |
| located in endomembrane system |
IDA
IDA: Inferred from direct assay
|
18497260 | GOA |
| is active in lysosomal membrane |
IDA
IDA: Inferred from direct assay
|
31112131 | GOA |
| located in lysosomal membrane |
IDA
IDA: Inferred from direct assay
|
30956113 | GOA |
| located in lysosome |
IDA
IDA: Inferred from direct assay
|
20381137 | GOA |
| located in lysosome |
IMP
IMP: Inferred from mutant phenotype
|
22424946 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
11853878 | GOA |
| located in nuclear envelope |
IDA
IDA: Inferred from direct assay
|
25294810 | GOA |
| located in phagocytic vesicle |
IDA
IDA: Inferred from direct assay
|
27623384 | GOA |
MTOR Protein Structure
DUF3385: Domain of unknown function (DUF3385) (854 - 1024)
FAT: FAT domain (1513 - 1908)
FRB_dom: FKBP12-rapamycin binding domain (2015 - 2114)
PI3_PI4_kinase: Phosphatidylinositol 3- and 4-kinase (2184 - 2430)
FATC: FATC domain (2518 - 2549)
- 0
- 400
- 800
- 1200
- 1600
- 2000
- 2400
- 2549 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
serine/threonine-protein kinase mTOR |
|
|
MTOR Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
MTOR | P42345 | FKBP1A | Homo sapiens | P62942 | 10089303 | |
|
Intra
|
MTOR | P42345 | FKBP1A | Homo sapiens | P62942 | 29997244 | |
|
Intra
|
MTOR | P42345 | FKBP1A | Homo sapiens | P62942 | 29997244 | |
|
Intra
|
MTOR | P42345 | PREX1 | Homo sapiens | Q8TCU6 | 17565979 | |
|
Intra
|
MTOR | P42345 | PREX1 | Homo sapiens | Q8TCU6 | 17565979 | |
|
Intra
|
MTOR | P42345 | PREX1 | Homo sapiens | Q8TCU6 | 17565979 | |
|
Intra
|
MTOR | P42345 | PREX1 | Homo sapiens | Q8TCU6 | 17565979 | |
|
Intra
|
MTOR | P42345 | RHEB | Homo sapiens | Q15382 | 16098514 | |
|
Intra
|
MTOR | P42345 | RICTOR | Homo sapiens | Q6R327 | 21376236 | |
|
Intra
|
MTOR | P42345 | RICTOR | Homo sapiens | Q6R327 | 19875983 | |
|
Intra
|
MTOR | P42345 | RICTOR | Homo sapiens | Q6R327 | 27043084 | |
|
Intra
|
MTOR | P42345 | RICTOR | Homo sapiens | Q6R327 | 19446321 | |
|
Intra
|
MTOR | P42345 | RICTOR | Homo sapiens | Q6R327 | 18566587 | |
|
Intra
|
MTOR | P42345 | RICTOR | Homo sapiens | Q6R327 | 17461779 | |
|
Intra
|
MTOR | P42345 | RICTOR | Homo sapiens | Q6R327 | 24375676 | |
|
Intra
|
MTOR | P42345 | RICTOR | Homo sapiens | Q6R327 | 35271311 | |
|
Intra
|
MTOR | P42345 | RICTOR | Homo sapiens | Q6R327 | 23953116 | |
|
Intra
|
MTOR | P42345 | RICTOR | Homo sapiens | Q6R327 | 21045808 | |
|
Intra
|
MTOR | P42345 | MLST8 | Homo sapiens | Q9BVC4 | 17461779 | |
|
Intra
|
MTOR | P42345 | MLST8 | Homo sapiens | Q9BVC4 | 26348909 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 35271311 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 19875983 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 26678875 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 18955708 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 26678875 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 21614075 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 12150926 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 19446321 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 26348909 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 25446900 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 26348909 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 22424946 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 17461779 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 26678875 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 23953116 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 23953116 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 26678875 | |
|
Intra
|
MTOR | P42345 | RPTOR | Homo sapiens | Q8N122 | 21045808 | |
|
Intra
|
MTOR | P42345 | MLST8 | Homo sapiens | Q9BVC4-1 | 26678875 | |
|
Intra
|
MTOR | P42345 | MLST8 | Homo sapiens | Q9BVC4-1 | 26678875 | |
|
Intra
|
MTOR | P42345 | MLST8 | Homo sapiens | Q9BVC4-1 | 23636326 | |
|
Intra
|
MTOR | P42345 | MLST8 | Homo sapiens | Q9BVC4-1 | 26678875 | |
|
Intra
|
MTOR | P42345 | MLST8 | Homo sapiens | Q9BVC4-1 | 26678875 | |
|
Intra
|
MTOR | P42345 | MLST8 | Homo sapiens | Q9BVC4-1 | 23636326 | |
|
Intra
|
MTOR | P42345 | MLST8 | Homo sapiens | Q9BVC4-1 | 23636326 | |
|
Intra
|
MTOR | P42345 | CLEC4G | Homo sapiens | Q6UXB4 | 33106485 | |
|
Intra
|
MTOR | P42345 | CLEC4G | Homo sapiens | Q6UXB4 | 33106485 | |
|
Intra
|
MTOR | P42345 | DEPTOR | Homo sapiens | Q8TB45 | 19446321 | |
|
Intra
|
MTOR | P42345 | BCL2L1 | Homo sapiens | Q07817-1 | 20080789 | |
|
Intra
|
MTOR | P42345 | AKT1 | Homo sapiens | P31749 | 24670654 | |
|
Intra
|
MTOR | P42345 | AKT1 | Homo sapiens | P31749 | 24670654 | |
|
Intra
|
MTOR | P42345 | AKT1 | Homo sapiens | P31749 | 25241761 | |
|
Intra
|
MTOR | P42345 | YWHAZ | Homo sapiens | P63104 | 15161933 | |
|
Intra
|
MTOR | P42345 | PLEKHM1 | Homo sapiens | Q9Y4G2 | 33452816 | |
|
Intra
|
MTOR | P42345 | PLEKHM1 | Homo sapiens | Q9Y4G2 | 33452816 | |
|
Intra
|
MTOR | P42345 | PLEKHM1 | Homo sapiens | Q9Y4G2 | 33452816 | |
|
Intra
|
MTOR | P42345 | TM9SF4 | Homo sapiens | Q92544 | 29125601 | |
|
Intra
|
MTOR | P42345 | TM9SF4 | Homo sapiens | Q92544 | 29125601 | |
|
Intra
|
MTOR | P42345 | RAB1A | Homo sapiens | P62820 | 25446900 | |
|
Intra
|
MTOR | P42345 | EIF4EBP1 | Homo sapiens | Q13541 | 12150926 |
MTOR Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80231 | mTOR Antibody (YA281) | WB, IHC-P, ICC/IF, IP, IF-Tissue | Human, Mouse, Rat |
| HY-P80469 | Phospho-mTOR (Ser2448) Antibody (YA691) | WB, IHC-P | Human, Mouse, Rat |
| HY-P80759 | mTOR Antibody | WB, IHC-P, ICC/IF, IP, FC | Human, Mouse, Rat |
| HY-P80837 | Phospho-mTOR (Ser2448) Antibody (YA171) | WB, IHC-P | Human, Mouse |
| HY-P80837A | Phospho-mTOR (Ser2448) Antibody (YA171)(PBS only) | WB, IHC-P | Human, Mouse |
| HY-P80838 | Phospho-mTOR (Ser2481) Antibody | WB | Human, Mouse, Rat |
| HY-P86383 | Phospho-mTOR(Ser2448) Antibody (YA6075) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
| HY-P86389 | mTOR Antibody (YA6081) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Ocular Hypertension |
|
|
| West Syndrome |
|
|
| Skin Melanoma |
|
|
| Acute Promyelocytic Leukemia |
|
|
| Pancreatic Cancer |
|
|
| Angiomyolipoma |
|
|
| Leukemia, Acute Myeloid |
|
|
| Lymphangioleiomyomatosis |
|
|
| Autism Spectrum Disorder |
|
|
| Corneal Dystrophy, Fleck |
|
|
| Myopathy |
|
|
| Hydrocephalus |
|
|
| Cebalid Syndrome |
|
|
| Focal Cortical Dysplasia, Type Ii |
|
|
| Cowden Syndrome |
|
|
| Sarcoma |
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
|
| Central Nervous System Benign Neoplasm |
|
|
| Lymphocele |
|
|
| Gliosarcoma |
|
|
| Gastrointestinal Neuroendocrine Tumor |
|
|
| Polycystic Liver Disease |
|
|
| Colorectal Cancer |
|
|
| Bladder Urothelial Carcinoma |
|
|
| Alexander Disease |
|
|
| Myeloma, Multiple |
|
|
| Cystic Kidney Disease |
|
|
| Autoimmune Lymphoproliferative Syndrome |
|
|
| Gastric Adenocarcinoma |
|
|
| Estrogen-Receptor Positive Breast Cancer |
|
|
| Exanthem |
|
|
| Glioblastoma |
|
|
| Lung Squamous Cell Carcinoma |
|
|
| Thymoma |
|
|
| Plasmacytoma |
|
|
| Spinal Cord Disease |
|
|
| Tuberous Sclerosis |
|
|
| Pyriform Sinus Cancer |
|
|
| Eye Disease |
|
|
| Rhabdomyosarcoma |
|
|
| Aging |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Fragile X Syndrome |
|
|
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
|
| Thymus Cancer |
|
|
| Gastrointestinal Stromal Tumor |
|
|
| Hemangioma |
|
|
| Skin Disease |
|
|
| Exudative Vitreoretinopathy 4 |
|
|
| Generalized Lymphatic Anomaly |
|
|
| Pulmonary Hypertension |
|
|
| Epilepsy |
|
|
| Neurodegeneration With Brain Iron Accumulation |
|
|
| Hypertension, Essential |
|
|
| Muscular Atrophy |
|
|
| Squamous Cell Carcinoma |
|
|
| Malignant Pleural Mesothelioma |
|
|
| Rett Syndrome |
|
|
| Subependymal Glioma |
|
|
| Autism |
|
|
| B-Cell Lymphoma |
|
|
| Pervasive Developmental Disorder |
|
|
| Nervous System Disease |
|
|
| Chromophobe Renal Cell Carcinoma |
|
|
| Optic Nerve Neoplasm |
|
|
| Kidney Angiomyolipoma |
|
|
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a |
|
|
| Rasopathy |
|
|
| Paronychia |
|
|
| Interstitial Lung Disease 2 |
|
|
| Low Grade Glioma |
|
|
| Medulloblastoma |
|
|
| Laryngomalacia |
|
|
| Acne |
|
|
| Diabetes Mellitus |
|
|
| Umbilical Hernia |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Cervical Cancer |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Hemimegalencephaly |
|
|
| Klippel-Trenaunay-Weber Syndrome |
|
|
| Hyperphosphatemia |
|
|
| Megalencephaly |
|
|
| Endometrial Hyperplasia |
|
|
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
|
| Dilated Cardiomyopathy |
|
|
| Cowden Syndrome 1 |
|
|
| Smith-Kingsmore Syndrome |
|
|
| Hematologic Cancer |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Endometrial Cancer |
|
|
| Breast Cancer |
|
|
| Optic Nerve Glioma |
|
|
| Stomatitis |
|
|
| Neuroendocrine Tumor |
|
|
| Myelofibrosis |
|
|
| Neurofibromatosis, Type I |
|
|
| Esophageal Cancer |
|
|
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
|
| Subependymal Giant Cell Astrocytoma |
|
|
| Angelman Syndrome |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Proteus Syndrome |
|
|
| Lung Cancer |
|
|
| Vaginal Adenosarcoma |
|
|
| Congenital Nervous System Abnormality |
|
|
| Retinitis Pigmentosa |
|
|
| Adult Malignant Schwannoma |
|
|
| Renal Cell Carcinoma, Papillary, 1 |
|
|
| Thymus Gland Disease |
|
|
| Von Hippel-Lindau Syndrome |
|
|
| Heart Disease |
|
|
| Mantle Cell Lymphoma |
|
|
| Hepatocellular Carcinoma |
|
|
| Peripheral Nervous System Disease |
|
|
| Rare Genetic Intellectual Disability |
|
|
| Benign Ependymoma |
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
|
| Status Epilepticus |
|
|
| Chordoma |
|
|
| Premature Menopause |
|
|
| Nevus, Epidermal |
|
|
| Kidney Benign Neoplasm |
|
|
| Childhood Kidney Angiomyolipoma |
|
|
| Polycystic Kidney Disease |
|
|
| Uterine Corpus Endometrial Carcinoma |
|
|
| Intestinal Obstruction |
|
|
| Cholangiocarcinoma |
|
|
| Pancreatic Adenocarcinoma |
|
|
| Neuroblastoma |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Schizophrenia |
|
|
| Giant Cell Glioblastoma |
|
|
| Mucositis |
|
|
| Castleman Disease |
|
|
| Systemic Lupus Erythematosus |
|
|
| Lymphoproliferative Syndrome |
|
|
| Lymphoid Interstitial Pneumonia |
|
|
| Prostate Cancer |
|
|
| Birt-Hogg-Dube Syndrome |
|
|
| Ovarian Cancer |
|
|
| Blood Platelet Disease |
|
|
| Perivascular Epithelioid Cell Tumor |
|
|
| Kidney Cancer |
|
|
| Leukemia, Chronic Lymphocytic |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | MTOR | VGNC | VGNC:43490 |
| Rattus norvegicus | MTOR | RGD | RGD:68371 |
| Bos taurus | MTOR | VGNC | VGNC:31748 |
| Macaca mulatta | MTOR | VGNC | VGNC:75062 |
| Felis catus | MTOR | VGNC | VGNC:63657 |
| Mus musculus | MTOR | MGD | MGI:1928394 |
| Others | MTOR | NCBI |