RPTOR Gene Summary [Human]

This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Details

Type
Nonsense Mediated Decay
Official Symbol
RPTOR
Official Name
regulatory associated protein of MTOR complex 1 [Source:HGNC Symbol;Acc:HGNC:30287]
Ensembl ID
ENSG00000141564
Bio databases IDs NCBI: 57521 Ensembl: ENSG00000141564
Aliases regulatory associated protein of MTOR complex 1, regulatory associated protein of mTOR
Synonyms 4932417H02Rik, KOG1, Mip1, mKIAA1303, Rap, Raptor, regulatory associated protein of MTOR complex 1, regulatory associated protein of MTOR, complex 1, RGD1311784
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 RPTOR 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 kinase binding
  • protein binding activity, bridging
  • enzyme binding
  • WD40
  • protein binding
  • HEAT repeats
  • protein kinase activator
  • HEAT repeat
  • Raptor N-terminal CASPase like domain
  • Raptor n-terminal conserved domain
  • protein serine/threonine kinase inhibitor
  • binding protein
  • hinge domain
  • Ribosome biogenesis protein Nsa1 and similar proteins

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • epithelial cancer
  • liver cancer
  • schizophrenia
  • pulmonary hypertension
  • insulin resistance
  • coronary artery disease
  • Waldenström macroglobulinemia
  • acute myeloid leukemia
  • astrocytosis
regulated by
role in cell
  • expression in
  • upregulation in
  • number
  • phosphorylation in
  • quantity
  • cell viability
  • morphology
  • differentiation
  • activation
  • proliferation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • low-density microsomal fraction
  • Nucleus
  • lysosome
  • Mitochondria
  • cytosol
  • lysosome membrane
  • nucleoplasm
  • stress granule
  • perikaryon
  • dendrites

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • regulation of cell size
  • response to xenobiotic stimulus
  • positive regulation of transcription from RNA polymerase III promoter
  • positive regulation of glycolysis
  • cellular response to amino acid stimulus
  • positive regulation of cell growth
  • cellular response to osmotic stress
  • cellular response to leucine
  • positive regulation of osteoclast differentiation
  • cellular response to glucose stimulus
  • cellular response to hypoxia
  • positive regulation of TOR signaling cascade
  • positive regulation of peptidyl-serine phosphorylation
  • social behavior
  • positive regulation of G1/S transition of mitotic cell cycle
  • TOR signaling cascade
  • cellular response to starvation
  • response to DNA damage stimulus
  • positive regulation of lipid biosynthetic process
  • cellular response to nutrient levels
  • regulation of cell growth
  • negative regulation of autophagy
  • regulation of autophagy
  • positive regulation of peptidyl-threonine phosphorylation
  • positive regulation of endothelial cell proliferation

Cellular Component

Where in the cell the gene product is active
  • dendrite
  • cytoplasmic stress granule
  • cytoplasm
  • cytosol
  • neuronal cell body
  • TORC1 complex
  • lysosomal membrane
  • nucleoplasm
  • lysosome

Molecular Function

What the gene product does at the molecular level
  • protein kinase binding
  • protein serine/threonine kinase inhibitor activity
  • protein binding
  • protein kinase activator activity
  • small GTPase binding
  • protein binding, bridging
  • 14-3-3 protein binding

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.