Human Gene MTOR (ENST00000376838.5) from GENCODE V38
Description: Contains 1 FAT domain. (from UniProt B1AKP8)
RefSeq Summary (NM_004958): 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].
Gencode Transcript: ENST00000376838.5
Gencode Gene: ENSG00000198793.13
Transcript (Including UTRs)
Position: hg38 chr1:11,106,535-11,131,558 Size: 25,024 Total Exon Count: 20 Strand: -
Position: hg38 chr1:11,107,485-11,130,756 Size: 23,272 Coding Exon Count: 20
Data last updated at UCSC: 2021-09-27 09:51:20
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
DESCRIPTION: SubName: Full=FK506 binding protein 12-rapamycin associated protein 1; SubName: Full=Serine/threonine-protein kinase mTOR;
SIMILARITY: Contains 1 FAT domain. SIMILARITY: Contains 1 FATC domain. SIMILARITY: Contains 1 PI3K/PI4K domain.
MalaCards Disease Associations
MalaCards Gene Search:
MTOR Diseases sorted by gene-association score: smith-kingsmore syndrome* (1580), focal cortical dysplasia, type ii, somatic* (1550), glioblastoma multiforme (24), luminal breast carcinoma (21), tuberous sclerosis (20), subependymal giant cell astrocytoma (18), atopic dermatitis 5 (18), lymphangioleiomyomatosis (16), kidney cancer (15), angiomyolipoma (15), glioblastoma (14), vulvar seborrheic keratosis (14), pancreatic neuroendocrine tumor (13), lung large cell carcinoma (13), laryngomalacia (12), hepatic angiomyolipoma (12), subependymal glioma (12), benign ependymoma (12), hypoxia (12), muscle hypertrophy (12), autosomal dominant polycystic kidney disease (12), diffuse intrinsic pontine glioma (10), paronychia (10), large intestine adenocarcinoma (10), kidney angiomyolipoma (10), umbilical hernia (9), tracheal cancer (9), ewing's family of tumors (9), ovarian clear cell adenocarcinoma (8), renal clear cell carcinoma (8), dermatosis papulosa nigra (8), alexander disease (8), mucositis (8), lymphocele (8), estrogen-receptor positive breast cancer (7), pyogenic granuloma (7), hemimegalencephaly (7), plasmablastic lymphoma (7), stomatitis (7), inverted follicular keratosis (7), mantle cell lymphoma (6), kaposiform hemangioendothelioma (6), keratosis, seborrheic, somatic (6), cytomegalovirus infection (6), megalencephaly (6), mucolipidosis iv (6), large cell acanthoma (6), focal epilepsy (5), corticobasal degeneration (5), endometrial cancer (5), kidney benign neoplasm (5), clear cell adenofibroma (5), kaposi sarcoma (4), exanthem (4), pancreatic cancer (4), renal cell carcinoma (4), spinal cord ependymoma (3), prostate cancer (3), breast cancer (3), fragile x syndrome (2), autoimmune lymphoproliferative syndrome (2), lung cancer (2), hematologic cancer (2), hepatocellular carcinoma (2), intellectual disability (2), intestinal obstruction (2), ovarian cancer, somatic (1), leigh syndrome (1), leukemia, acute myeloid (0) * = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
1,2-bis(2-aminophenoxy)ethane N,N,N',N'-tetraacetic acid acetoxymethyl ester
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR003152 - FATC
IPR009076 - FKBP_rapamycin-assoc_FKBP12-bd
IPR011009 - Kinase-like_dom
IPR000403 - PI3/4_kinase_cat_dom
IPR018936 - PI3/4_kinase_CS
IPR003151 - PIK-rel_kinase_FAT
IPR014009 - PIK_FAT
IPR026683 - TOR/Smg1
Pfam Domains: PF02259 - FAT domain
PF02260 - FATC domain
PF00454 - Phosphatidylinositol 3- and 4-kinase
PF08771 - FKBP12-rapamycin binding domain
ModBase Predicted Comparative 3D Structure on B1AKP8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
LP830499 - Sequence 1 from Patent EP3211090. U88966 - Human protein rapamycin associated protein (FRAP2) gene, complete cds. AB209995 - Homo sapiens mRNA for FRAP1 variant protein, clone: ef01094. AK302863 - Homo sapiens cDNA FLJ60991 complete cds, highly similar to FKBP12-rapamycin complex-associated protein. AK304273 - Homo sapiens cDNA FLJ56559 complete cds, highly similar to FKBP12-rapamycin complex-associated protein. BC117166 - Homo sapiens FK506 binding protein 12-rapamycin associated protein 1, mRNA (cDNA clone MGC:150775 IMAGE:40125717), complete cds. L34075 - Human FKBP-rapamycin associated protein (FRAP) mRNA, complete cds. AB384693 - Synthetic construct DNA, clone: pF1KB1123, Homo sapiens FRAP1 gene for FKBP12-rapamycin complex-associated protein, complete cds, without stop codon, in Flexi system. AK126762 - Homo sapiens cDNA FLJ44809 fis, clone BRACE3044172, highly similar to FKBP12-rapamycin complex-associated protein. JD506378 - Sequence 487402 from Patent EP1572962. JD159533 - Sequence 140557 from Patent EP1572962. JD089021 - Sequence 70045 from Patent EP1572962. JD105180 - Sequence 86204 from Patent EP1572962. JD193187 - Sequence 174211 from Patent EP1572962. JD551053 - Sequence 532077 from Patent EP1572962. JD368094 - Sequence 349118 from Patent EP1572962. JD171795 - Sequence 152819 from Patent EP1572962. JD435342 - Sequence 416366 from Patent EP1572962. JD249010 - Sequence 230034 from Patent EP1572962. JD060421 - Sequence 41445 from Patent EP1572962. HZ473918 - WO 2016002844-A/32: ANTI-INVASIVE/ANTI-METASTATIC DRUG FOR PANCREATIC CANCER CELL. AK024393 - Homo sapiens cDNA FLJ14331 fis, clone PLACE4000320. L35478 - Homo sapiens RAPT1 (RAPT1) mRNA, partial cds. BC127611 - Homo sapiens cDNA clone IMAGE:40031732, partial cds. MB485435 - JP 2019206516-A/8: ANTI-INVASIVE/ANTI-METASTATIC DRUG FOR PANCREATIC CANCER CELL.
Biochemical and Signaling Pathways
Other Names for This Gene
Alternate Gene Symbols: AK126762, B1AKP8, B1AKP8_HUMAN, ENST00000376838.1, ENST00000376838.2, ENST00000376838.3, ENST00000376838.4, FRAP1, RP4-635E18.1-002, uc001asc.1, uc001asc.2, uc001asc.3, uc001asc.4 UCSC ID: ENST00000376838.5 RefSeq Accession: NM_004958
Methods, Credits, and Use Restrictions
for details on how this gene model was made and data restrictions if any.