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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
17
Cytoband
q25.3
Chromosome location (bp)
80544819 - 80966371
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in the control of the mammalian target of rapamycin complex 1 (mTORC1) activity which regulates cell growth and survival, and autophagy in response to nutrient and hormonal signals; functions as a scaffold for recruiting mTORC1 substrates. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). mTORC1 phosphorylates and activates S6K1 at 'Thr-389', which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation. Involved in ciliogenesis. mTORC1 complex in excitatory neuronal transmission is required for the prosocial behavior induced by the psychoactive substance lysergic acid diethylamide (LSD) (By similarity)....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Host-virus interaction
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Q8N122 [Direct mapping] Regulatory-associated protein of mTOR
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0001002[RNA polymerase III type 1 promoter sequence-specific DNA binding] GO:0001003[RNA polymerase III type 2 promoter sequence-specific DNA binding] GO:0001006[RNA polymerase III type 3 promoter sequence-specific DNA binding] GO:0001156[TFIIIC-class transcription factor complex binding] GO:0001558[regulation of cell growth] GO:0005515[protein binding] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005829[cytosol] GO:0006974[cellular response to DNA damage stimulus] GO:0008361[regulation of cell size] GO:0009267[cellular response to starvation] GO:0009410[response to xenobiotic stimulus] GO:0010494[cytoplasmic stress granule] GO:0010506[regulation of autophagy] GO:0010507[negative regulation of autophagy] GO:0010800[positive regulation of peptidyl-threonine phosphorylation] GO:0016310[phosphorylation] GO:0019901[protein kinase binding] GO:0030291[protein serine/threonine kinase inhibitor activity] GO:0030295[protein kinase activator activity] GO:0030307[positive regulation of cell growth] GO:0030674[protein-macromolecule adaptor activity] GO:0031669[cellular response to nutrient levels] GO:0031929[TOR signaling] GO:0031931[TORC1 complex] GO:0032008[positive regulation of TOR signaling] GO:0033138[positive regulation of peptidyl-serine phosphorylation] GO:0035176[social behavior] GO:0038202[TORC1 signaling] GO:0044877[protein-containing complex binding] GO:0045821[positive regulation of glycolytic process] GO:0045945[positive regulation of transcription by RNA polymerase III] GO:0046889[positive regulation of lipid biosynthetic process] GO:0071230[cellular response to amino acid stimulus] GO:0071233[cellular response to leucine] GO:0071456[cellular response to hypoxia] GO:0071470[cellular response to osmotic stress] GO:0071889[14-3-3 protein binding] GO:0071902[positive regulation of protein serine/threonine kinase activity] GO:1900087[positive regulation of G1/S transition of mitotic cell cycle] GO:1905857[positive regulation of pentose-phosphate shunt]
The Human Protein Atlas project is funded
