Human Gene MTOR (ENST00000376838.5) Description and Page Index
  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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U88966.1, AB209995.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000361445.9/ ENSP00000354558.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
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: -
Coding Region
   Position: hg38 chr1:11,107,485-11,130,756 Size: 23,272 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:11,106,535-11,131,558)mRNA (may differ from genome)Protein (754 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: B1AKP8_HUMAN
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
  • D020123 Sirolimus
  • C059514 resveratrol
  • C085911 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one
  • D019256 Cadmium Chloride
  • D010712 Phosphatidic Acids
  • C401859 temsirolimus
  • C516138 (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine
  • C070379 1,2-bis(2-aminophenoxy)ethane N,N,N',N'-tetraacetic acid acetoxymethyl ester
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C500530 3-(4-t-butylphenyl)-N-(2,3-dihydrobenzo(b)(1,4)dioxin-6-yl)acrylamide
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.06 RPKM in Testis
Total median expression: 328.42 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -220.30802-0.275 Picture PostScript Text
3' UTR -251.50950-0.265 Picture PostScript Text

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
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004674 protein serine/threonine kinase activity
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0044877 macromolecular complex binding

Biological Process:
GO:0006468 protein phosphorylation
GO:0016310 phosphorylation


-  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.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04012 - ErbB signaling pathway
hsa04150 - mTOR signaling pathway
hsa04910 - Insulin signaling pathway
hsa04920 - Adipocytokine signaling pathway
hsa04930 - Type II diabetes mellitus
hsa05200 - Pathways in cancer
hsa05214 - Glioma
hsa05215 - Prostate cancer
hsa05221 - Acute myeloid leukemia

BioCarta from NCI Cancer Genome Anatomy Project
h_ctcfPathway - CTCF: First Multivalent Nuclear Factor
h_igf1mtorpathway - Skeletal muscle hypertrophy is regulated via AKT/mTOR pathway
h_mTORPathway - mTOR Signaling Pathway
h_bcellsurvivalPathway - B Cell Survival Pathway
h_eif4Pathway - Regulation of eIF4e and p70 S6 Kinase
h_stat3Pathway - Stat3 Signaling Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: AK126762, B1AKP8, B1AKP8_HUMAN, FRAP1, RP4-635E18.1-002, uc001asc.1, uc001asc.2, uc001asc.3, uc001asc.4
UCSC ID: uc001asc.4
RefSeq Accession: NM_004958
Protein: B1AKP8

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.