MTOR Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
MTOR
Official Name
mechanistic target of rapamycin kinase [Source:HGNC Symbol;Acc:HGNC:3942]
Ensembl ID
ENSG00000198793
Bio databases IDs NCBI: 2475 Ensembl: ENSG00000198793
Aliases mechanistic target of rapamycin kinase, FK506 binding protein 12-rapamycin associated protein 2, rapamycin target protein, FKBP12-rapamycin complex-associated protein 1, FKBP-rapamycin associated protein, rapamycin associated protein FRAP2, dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1), rapamycin and FKBP12 target 1, mammalian target of rapamycin
Synonyms 2610315D21Rik, Flat, FRAP, FRAP1, FRAP2, FRB, mechanistic target of rapamycin kinase, mTORC1, RAFT1, RAPT1, RRAFT1, SKS
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MTOR often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein serine/threonine kinase
  • protein kinase
  • phosphoprotein binding
  • transcription factor binding
  • enzyme
  • protein-tyrosine kinase
  • identical protein binding
  • Domain of unknown function (DUF3385)
  • proline rich domain
  • FATC domain
  • FAT domain
  • FKBP12-rapamycin binding domain
  • ribosome binding
  • Adaptin N terminal region
  • activation domain
  • protein kinase binding
  • autoinhibitory protein domain
  • Phosphatidylinositol 3- and 4-kinase
  • catalytic domain
  • nucleic acid binding
  • ER targeting sequence
  • protein domain specific binding
  • protein binding
  • ribosomal DNA (rDNA) binding protein
  • phosphatidic acid binding domain
  • sequence-specific DNA binding
  • phosphorylation site
  • kinase
  • kinase domain
  • HEAT repeat
  • Phosphoinositide 3-kinase, catalytic domain
  • transcription repression domain
  • binding protein
  • Protein Kinases, catalytic domain
  • double-stranded DNA binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • hypertension
  • neoplasia
  • metastasis
  • psoriasis
  • skin cancer
  • HIV infection
  • hyperplasia
  • liver neoplasia
  • atopic dermatitis
  • bilateral breast carcinoma
regulated by
  • ethanol
  • adenosine triphosphate
  • palmitic acid
  • lipopolysaccharide
  • cisplatin
  • L-triiodothyronine
  • BDNF
  • tetradecanoylphorbol acetate
  • IGF1
  • NFKBIA
regulates
role in cell
  • apoptosis
  • inhibition in
  • cell death
  • activation
  • production in
  • cell viability
  • formation
  • activation in
  • binding in
  • expression in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • high-density microsomal fractions
  • low-density microsomal fraction
  • membrane fraction
  • apical ectoplasmic specialization
  • glutaminergic synapse
  • endomembrane system
  • Cytoplasm
  • Extracellular Space
  • perinuclear region
  • cellular membrane
  • Plasma Membrane
  • lysosome
  • Golgi Apparatus
  • Endoplasmic Reticulum
  • Mitochondria
  • midbody
  • cytosol
  • presynaptic membrane
  • lysosome membrane
  • nucleoplasm
  • nucleoli
  • nuclear envelope
  • synaptic vesicles
  • synaptosomes
  • synapse
  • sarcolemma
  • late endosomes
  • endolysosomes
  • PML nuclear bodies
  • central spindle
  • mitotic spindle
  • perikaryon
  • dendrites
  • phagosomes
  • cytoskeletal fraction
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MTOR gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of translation
  • cytoskeleton organization
  • cellular response to amino acid starvation
  • post-embryonic development
  • protein autophosphorylation
  • cardiac muscle contraction
  • heart valve morphogenesis
  • positive regulation of oligodendrocyte differentiation
  • positive regulation of cell growth
  • heart morphogenesis
  • inflammatory response
  • negative regulation of calcineurin-NFAT signaling cascade
  • cellular response to hypoxia
  • nucleus localization
  • calcineurin-NFAT signaling cascade
  • positive regulation of lamellipodium assembly
  • negative regulation of protein localization to nucleus
  • cellular response to nutrient
  • anoikis
  • response to nutrient
  • T-helper 1 cell lineage commitment
  • response to DNA damage stimulus
  • regulation of actin cytoskeleton organization
  • cellular response to nutrient levels
  • voluntary musculoskeletal movement
  • positive regulation of phosphoprotein phosphatase activity
  • 'de novo' pyrimidine base biosynthetic process
  • positive regulation of stress fiber assembly
  • regulation of cell growth
  • negative regulation of autophagy
  • positive regulation of gene expression
  • regulation of macroautophagy
  • cardiac muscle cell development
  • negative regulation of macroautophagy
  • peptidyl-serine phosphorylation
  • response to nutrient levels
  • positive regulation of protein kinase B signaling cascade
  • positive regulation of translational initiation
  • multicellular organism growth
  • cellular response to methionine
  • regulation of cellular response to heat
  • regulation of cell size
  • response to amino acid stimulus
  • regulation of circadian rhythm
  • protein phosphorylation
  • positive regulation of transcription from RNA polymerase III promoter
  • positive regulation of glycolysis
  • positive regulation of epithelial to mesenchymal transition
  • cellular response to insulin stimulus
  • cellular response to amino acid stimulus
  • response to heat
  • cellular response to osmotic stress
  • cellular response to leucine
  • regulation of osteoclast differentiation
  • negative regulation of cell size
  • behavioral response to pain
  • positive regulation of myotube differentiation
  • positive regulation of keratinocyte migration
  • phosphorylation
  • positive regulation of peptidyl-tyrosine phosphorylation
  • macroautophagy
  • regulation of action potential in neuron
  • germ cell development
  • lysosome organization
  • oligodendrocyte differentiation
  • T cell costimulation
  • protein catabolic process
  • energy reserve metabolic process
  • TOR signaling cascade
  • cellular response to starvation
  • positive regulation of lipid biosynthetic process
  • protein destabilization
  • rhythmic process
  • negative regulation of apoptotic process
  • ruffle organization
  • positive regulation of actin filament polymerization
  • regulation of autophagic vacuole assembly
  • regulation of myelination

Cellular Component

Where in the cell the gene product is active
  • PML body
  • phagocytic vesicle
  • Golgi membrane
  • mitochondrial outer membrane
  • lysosomal membrane
  • lysosome
  • nucleoplasm
  • endoplasmic reticulum membrane
  • nuclear envelope
  • nucleus
  • dendrite
  • TORC2 complex
  • cytoplasm
  • membrane
  • cytosol
  • endomembrane system
  • TORC1 complex

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • protein kinase activity
  • protein serine/threonine kinase activity
  • RNA polymerase III type 3 promoter sequence-specific DNA binding
  • RNA polymerase III type 2 promoter sequence-specific DNA binding
  • TFIIIC-class transcription factor binding
  • RNA polymerase III type 1 promoter sequence-specific DNA binding
  • ATP binding
  • protein binding
  • ribosome binding
  • phosphoprotein binding
  • kinase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.