Human Gene RPTOR (ENST00000306801.8) from GENCODE V44
  Description: Homo sapiens regulatory associated protein of MTOR complex 1 (RPTOR), transcript variant 1, mRNA. (from RefSeq NM_020761)
RefSeq Summary (NM_020761): 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].
Gencode Transcript: ENST00000306801.8
Gencode Gene: ENSG00000141564.16
Transcript (Including UTRs)
   Position: hg38 chr17:80,544,838-80,966,368 Size: 421,531 Total Exon Count: 34 Strand: +
Coding Region
   Position: hg38 chr17:80,545,630-80,964,330 Size: 418,701 Coding Exon Count: 34 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:80,544,838-80,966,368)mRNA (may differ from genome)Protein (1335 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RPTOR_HUMAN
DESCRIPTION: RecName: Full=Regulatory-associated protein of mTOR; Short=Raptor; AltName: Full=p150 target of rapamycin (TOR)-scaffold protein;
FUNCTION: 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.
SUBUNIT: Interacts with MTOR (By similarity). Part of the mammalian target of rapamycin complex 1 (mTORC1) which contains MTOR, MLST8, RPTOR, AKT1S1/PRAS40 and DEPTOR. mTORC1 binds to and is inhibited by FKBP12-rapamycin. Binds directly to 4EBP1 and RPS6KB1 independently of its association with MTOR. Binds preferentially to poorly or non-phosphorylated forms of EIF4EBP1, and this binding is critical to the ability of MTOR to catalyze phosphorylation. Forms a complex with MTOR under both leucine-rich and -poor conditions. Interacts with ULK1 in a nutrient-dependent manner; the interaction is reduced during starvation. Interacts (when phosphorylated by AMPK) with 14-3-3 protein, leading to inhibit its activity.
INTERACTION: Q13541:EIF4EBP1; NbExp=4; IntAct=EBI-1567928, EBI-74090; Q9P2J5:LARS; NbExp=3; IntAct=EBI-1567928, EBI-356077; Q9BVC4:MLST8; NbExp=3; IntAct=EBI-1567928, EBI-1387471; P42345:MTOR; NbExp=12; IntAct=EBI-1567928, EBI-359260; Q9JLN9:Mtor (xeno); NbExp=4; IntAct=EBI-1567928, EBI-1571628; Q8TCU6:PREX1; NbExp=2; IntAct=EBI-1567928, EBI-1046542; P67999:Rps6kb1 (xeno); NbExp=2; IntAct=EBI-1567928, EBI-2639458; Q96EB6:SIRT1; NbExp=3; IntAct=EBI-1567928, EBI-1802965;
SUBCELLULAR LOCATION: Cytoplasm. Lysosome. Note=Targeting to lysosomes depends on amino acid availability.
TISSUE SPECIFICITY: Highly expressed in skeletal muscle, and in a lesser extent in brain, lung, small intestine, kidney and placenta.
PTM: Phosphorylation at Ser-863 by MTOR negatively regulates mTORC1 activity (By similarity). In response to nutrient limitation, phosphorylated by AMPK; phosphorylation promotes interaction with 14-3-3 proteins, leading to negative regulation of the mTORC1 complex. In response to growth factors, phosphorylated at Ser-719, Ser-721 and Ser-722 by RPS6KA1; phosphorylation positively stimulates mTORC1 activity.
SIMILARITY: Belongs to the WD repeat RAPTOR family.
SIMILARITY: Contains 7 WD repeats.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: RPTOR
Diseases sorted by gene-association score: aqueous misdirection (16), rubeosis iridis (8), blackwater fever (8), hemopericardium (7), moyamoya disease (5), tyrosinemia, type ii (4), bardet-biedl syndrome (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.65 RPKM in Esophagus - Muscularis
Total median expression: 238.48 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 -309.70792-0.391 Picture PostScript Text
3' UTR -878.402038-0.431 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
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR000357 - HEAT
IPR004083 - Raptor
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF02985 - HEAT repeat
PF00400 - WD domain, G-beta repeat

ModBase Predicted Comparative 3D Structure on Q8N122
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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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001030 RNA polymerase III type 1 promoter DNA binding
GO:0001031 RNA polymerase III type 2 promoter DNA binding
GO:0001032 RNA polymerase III type 3 promoter DNA binding
GO:0001156 TFIIIC-class transcription factor binding
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0030291 protein serine/threonine kinase inhibitor activity
GO:0030295 protein kinase activator activity
GO:0030674 protein binding, bridging
GO:0044877 macromolecular complex binding
GO:0071889 14-3-3 protein binding

Biological Process:
GO:0001558 regulation of cell growth
GO:0001938 positive regulation of endothelial cell proliferation
GO:0007050 cell cycle arrest
GO:0008361 regulation of cell size
GO:0009267 cellular response to starvation
GO:0010506 regulation of autophagy
GO:0010800 positive regulation of peptidyl-threonine phosphorylation
GO:0016241 regulation of macroautophagy
GO:0030307 positive regulation of cell growth
GO:0031669 cellular response to nutrient levels
GO:0031929 TOR signaling
GO:0032008 positive regulation of TOR signaling
GO:0032147 activation of protein kinase activity
GO:0033138 positive regulation of peptidyl-serine phosphorylation
GO:0038202 TORC1 signaling
GO:0042325 regulation of phosphorylation
GO:0045945 positive regulation of transcription from RNA polymerase III promoter
GO:0071230 cellular response to amino acid stimulus
GO:0071233 cellular response to leucine
GO:0071901 negative regulation of protein serine/threonine kinase activity
GO:0071902 positive regulation of protein serine/threonine kinase activity
GO:1900034 regulation of cellular response to heat
GO:1900087 positive regulation of G1/S transition of mitotic cell cycle

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0010494 cytoplasmic stress granule
GO:0030425 dendrite
GO:0031931 TORC1 complex
GO:0043025 neuronal cell body


-  Descriptions from all associated GenBank mRNAs
  AK295964 - Homo sapiens cDNA FLJ52080 complete cds, highly similar to Regulatory-associated protein of mTOR.
AK296321 - Homo sapiens cDNA FLJ52081 complete cds, highly similar to Regulatory-associated protein of mTOR.
BC064515 - Homo sapiens raptor, mRNA (cDNA clone IMAGE:3635589), complete cds.
BC008754 - Homo sapiens argininosuccinate synthetase 1, mRNA (cDNA clone IMAGE:3344903), **** WARNING: chimeric clone ****.
AK055912 - Homo sapiens cDNA FLJ31350 fis, clone MESAN2000149.
AY090663 - Homo sapiens raptor mRNA, complete cds.
BC136652 - Homo sapiens raptor, mRNA (cDNA clone MGC:168265 IMAGE:9020642), complete cds.
BC136654 - Homo sapiens raptor, mRNA (cDNA clone MGC:168267 IMAGE:9020644), complete cds.
HQ257977 - Synthetic construct Homo sapiens clone IMAGE:100072286 Unknown protein gene, encodes complete protein.
KJ902963 - Synthetic construct Homo sapiens clone ccsbBroadEn_12357 RPTOR gene, encodes complete protein.
AB082951 - Homo sapiens raptor mRNA for p150 target of rapamycin (TOR)-scaffold protein containing WD-repeats, complete cds.
AB037724 - Homo sapiens mRNA for KIAA1303 protein, partial cds.
GQ183898 - Homo sapiens RAPTOR v2 mRNA, partial cds, alternatively spliced.
JD124288 - Sequence 105312 from Patent EP1572962.
JD410047 - Sequence 391071 from Patent EP1572962.
JD245155 - Sequence 226179 from Patent EP1572962.
JD203555 - Sequence 184579 from Patent EP1572962.
BC041079 - Homo sapiens raptor, mRNA (cDNA clone IMAGE:3163307), with apparent retained intron.
BC033258 - Homo sapiens, clone IMAGE:5457801, mRNA, partial cds.
BC025180 - Homo sapiens, Similar to KIAA1303 protein, clone IMAGE:4999410, mRNA, partial cds.
BC073898 - Homo sapiens raptor, mRNA (cDNA clone IMAGE:4367961), partial cds.
JD456619 - Sequence 437643 from Patent EP1572962.
JD057914 - Sequence 38938 from Patent EP1572962.
JD551987 - Sequence 533011 from Patent EP1572962.
JD087949 - Sequence 68973 from Patent EP1572962.
JD227953 - Sequence 208977 from Patent EP1572962.
BC014502 - Homo sapiens raptor, mRNA (cDNA clone IMAGE:4860374).
JD113141 - Sequence 94165 from Patent EP1572962.
JD426166 - Sequence 407190 from Patent EP1572962.
JD187724 - Sequence 168748 from Patent EP1572962.
JD140794 - Sequence 121818 from Patent EP1572962.
JD104129 - Sequence 85153 from Patent EP1572962.
JD534662 - Sequence 515686 from Patent EP1572962.
JD186927 - Sequence 167951 from Patent EP1572962.
JD539972 - Sequence 520996 from Patent EP1572962.
JD560591 - Sequence 541615 from Patent EP1572962.
JD467348 - Sequence 448372 from Patent EP1572962.
JD451128 - Sequence 432152 from Patent EP1572962.
JD170579 - Sequence 151603 from Patent EP1572962.
JD274754 - Sequence 255778 from Patent EP1572962.
JD057708 - Sequence 38732 from Patent EP1572962.
JD141980 - Sequence 123004 from Patent EP1572962.
JD426316 - Sequence 407340 from Patent EP1572962.
JD211295 - Sequence 192319 from Patent EP1572962.
JD272050 - Sequence 253074 from Patent EP1572962.
JD396049 - Sequence 377073 from Patent EP1572962.
JD407745 - Sequence 388769 from Patent EP1572962.
JD231823 - Sequence 212847 from Patent EP1572962.
JD089252 - Sequence 70276 from Patent EP1572962.
JD257537 - Sequence 238561 from Patent EP1572962.
JD074223 - Sequence 55247 from Patent EP1572962.
JD091821 - Sequence 72845 from Patent EP1572962.
JD358980 - Sequence 340004 from Patent EP1572962.
JD209312 - Sequence 190336 from Patent EP1572962.
JD103626 - Sequence 84650 from Patent EP1572962.
JD515424 - Sequence 496448 from Patent EP1572962.
JD566946 - Sequence 547970 from Patent EP1572962.
JD500353 - Sequence 481377 from Patent EP1572962.
JD200850 - Sequence 181874 from Patent EP1572962.
JD116371 - Sequence 97395 from Patent EP1572962.
JD124745 - Sequence 105769 from Patent EP1572962.
JD078810 - Sequence 59834 from Patent EP1572962.
JD522487 - Sequence 503511 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04150 - mTOR signaling pathway
hsa04910 - Insulin signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q8N122 (Reactome details) participates in the following event(s):

R-HSA-5653968 Ragulator:Rag dimers:SLC38A9 bind mTORC1
R-HSA-165680 Formation of active mTORC1 complex
R-HSA-380979 RHEB in mTORC1:RHEB:GTP hydrolyses GTP
R-HSA-447074 AMPK phosphorylates Raptor in the mTORC1 complex
R-HSA-5672843 AKT1S1 (PRAS40) binds mTORC1
R-HSA-5672017 Rheb in the mTORC1 complex hydrolyses GTP
R-HSA-5672817 Active mTORC1 binds the ULK1 complex
R-HSA-5675790 mTORC1 dissociates from ULK complex
R-HSA-5082405 Phosphorylation of HSF1 at Ser326 induces transactivation
R-HSA-5672824 Phosphorylated AKT1S1:mTORC1 binds YWHAB
R-HSA-377186 Activated Akt1 phosphorylates AKT1S1 (PRAS40)
R-HSA-165692 Phosphorylation of 4E-BP1 by activated mTORC1
R-HSA-165718 mTORC1 phosphorylation of RPS6KB1 (S6K)
R-HSA-5672010 Active mTORC1 phosphorylates ULK1
R-HSA-5673768 p-AMPK:AMP phosphorylates Raptor in the mTORC1 complex
R-HSA-8944454 mTORC1 phosphorylates MAF1
R-HSA-5672828 mTORC1 phosphorylates AKT1S1
R-HSA-165159 mTOR signalling
R-HSA-162582 Signal Transduction
R-HSA-380972 Energy dependent regulation of mTOR by LKB1-AMPK
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-1632852 Macroautophagy
R-HSA-3371571 HSF1-dependent transactivation
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-166208 mTORC1-mediated signalling
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-8943724 Regulation of PTEN gene transcription
R-HSA-3371556 Cellular response to heat stress
R-HSA-212436 Generic Transcription Pathway
R-HSA-6807070 PTEN Regulation
R-HSA-2262752 Cellular responses to stress
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-74160 Gene expression (Transcription)
R-HSA-9006925 Intracellular signaling by second messengers

-  Other Names for This Gene
  Alternate Gene Symbols: B2RN36, ENST00000306801.1, ENST00000306801.2, ENST00000306801.3, ENST00000306801.4, ENST00000306801.5, ENST00000306801.6, ENST00000306801.7, KIAA1303, NM_020761, Q8N122, Q8N4V9, Q8TB32, Q9P2P3, RAPTOR, RPTOR_HUMAN, uc002jyt.1, uc002jyt.2, uc002jyt.3
UCSC ID: ENST00000306801.8
RefSeq Accession: NM_020761
Protein: Q8N122 (aka RPTOR_HUMAN or RPOR_HUMAN)
CCDS: CCDS11773.1

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