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Aliases for RPTOR Gene

Aliases for RPTOR Gene

  • Regulatory Associated Protein Of MTOR Complex 1 2 3 5
  • Raptor 3 4
  • P150 Target Of Rapamycin (TOR)-Scaffold Protein Containing WD-Repeats 3
  • Regulatory Associated Protein Of MTOR, Complex 1 2
  • P150 Target Of Rapamycin (TOR)-Scaffold Protein 4
  • Regulatory Associated Protein Of MTOR 2
  • Regulatory-Associated Protein Of MTOR 3
  • KIAA1303 4
  • MIP1 3
  • KOG1 3

External Ids for RPTOR Gene

Previous GeneCards Identifiers for RPTOR Gene

  • GC17P076135
  • GC17P078518
  • GC17P073954

Summaries for RPTOR Gene

Entrez Gene Summary for RPTOR Gene

  • 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]

GeneCards Summary for RPTOR Gene

RPTOR (Regulatory Associated Protein Of MTOR Complex 1) is a Protein Coding gene. Diseases associated with RPTOR include Aqueous Misdirection and Rubeosis Iridis. Among its related pathways are RET signaling and MAPK Signaling: Mitogen Stimulation Pathway. GO annotations related to this gene include binding and protein complex binding.

UniProtKB/Swiss-Prot for RPTOR Gene

  • 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.

Gene Wiki entry for RPTOR Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPTOR Gene

Genomics for RPTOR Gene

Regulatory Elements for RPTOR Gene

Enhancers for RPTOR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G080692 1.6 FANTOM5 Ensembl ENCODE dbSUPER 28.4 +150.3 150286 4.3 MLX ZSCAN4 ZNF48 RARA SLC30A9 SCRT2 MIXL1 CEBPB REST TGIF2 RPTOR NPTX1 RPL31P7 GC17P080792
GH17G080586 1.3 FANTOM5 Ensembl ENCODE 34.4 +41.9 41920 1.4 CTCF ZNF792 JUN GLI4 RAD21 ZNF664 GLIS2 POLR2A SCRT2 ZNF207 RPTOR LOC105371922
GH17G080702 1.3 Ensembl ENCODE dbSUPER 28.3 +159.0 158994 2.8 CTCF TFAP4 SAP130 ZMYM3 BACH1 THRB ZNF48 RAD21 RARA ZNF316 RPTOR NPTX1 ENDOV GC17P080792 RPL31P7
GH17G080691 1.1 dbSUPER 28.3 +146.9 146948 1.2 FOXA2 PKNOX1 CREB3L1 MLX ARNT SIN3A ARID4B DMAP1 ZNF766 FOS RPTOR NPTX1 LOC100294362 CEP131 ARL16 ENSG00000262877 RPL31P7 GC17P080792
GH17G080663 1.4 Ensembl ENCODE dbSUPER 21 +119.5 119542 2.2 HDGF ZSCAN4 KLF17 ZNF366 ZSCAN5C SCRT2 ZNF263 JUNB TSHZ1 ZNF398 RPTOR ENDOV CEP131 RPL31P7 GC17P080792
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RPTOR on UCSC Golden Path with GeneCards custom track

Promoters for RPTOR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000099222 282 1400 HDGF MLX CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for RPTOR Gene

Chromosome:
17
Start:
80,544,819 bp from pter
End:
80,966,373 bp from pter
Size:
421,555 bases
Orientation:
Plus strand

Genomic View for RPTOR Gene

Genes around RPTOR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPTOR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPTOR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPTOR Gene

Proteins for RPTOR Gene

  • Protein details for RPTOR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N122-RPTOR_HUMAN
    Recommended name:
    Regulatory-associated protein of mTOR
    Protein Accession:
    Q8N122
    Secondary Accessions:
    • B2RN36
    • C6KEF2
    • F5H7J5
    • Q8N4V9
    • Q8TB32
    • Q9P2P3

    Protein attributes for RPTOR Gene

    Size:
    1335 amino acids
    Molecular mass:
    149038 Da
    Quaternary structure:
    • Part of the mammalian target of rapamycin complex 1 (mTORC1) which contains MTOR, MLST8, RPTOR, AKT1S1/PRAS40 and DEPTOR (PubMed:12150925, PubMed:12408816, PubMed:17386266, PubMed:25940091). mTORC1 binds to and is inhibited by FKBP12-rapamycin (PubMed:12408816, PubMed:15066126). Binds directly to 4EBP1 and RPS6KB1 independently of its association with MTOR (PubMed:12150925, PubMed:12150926). Binds preferentially to poorly or non-phosphorylated forms of EIF4EBP1, and this binding is critical to the ability of MTOR to catalyze phosphorylation (PubMed:12747827). 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 (PubMed:19211835). Interacts (when phosphorylated by AMPK) with 14-3-3 protein, leading to inhibition of its activity (PubMed:18439900). Interacts with SPAG5; SPAG5 competes with MTOR for RPTOR-binding, resulting in decreased mTORC1 formation. Interacts with WAC; WAC positively regulates MTOR activity by promoting the assembly of the TTT complex composed of TELO2, TTI1 and TTI2 and the RUVBL complex composed of RUVBL1 and RUVBL2 into the TTT-RUVBL complex which leads to the dimerization of the mTORC1 complex and its subsequent activation (PubMed:26812014). Interacts with G3BP1. The complex formed with G3BP1 AND SPAG5 is increased by oxidative stress (PubMed:23953116). Interacts with HTR6 (PubMed:23027611). Interacts with PIH1D1 (PubMed:24036451). Interacts with LARP1 (PubMed:25940091). Interacts with BRAT1 (PubMed:25657994).

    Three dimensional structures from OCA and Proteopedia for RPTOR Gene

    Alternative splice isoforms for RPTOR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RPTOR Gene

Post-translational modifications for RPTOR Gene

  • Insulin-stimulated phosphorylation at Ser-863 by MTOR and MAPK8 up-regulates mTORC1 activity. Osmotic stress also induces phosphorylation at Ser-696, Thr-706 and Ser-863 by MAPK8. Ser-863 phosphorylation is required for phosphorylation at Ser-855 and Ser-859. 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, which stimulates mTORC1 activity.
  • Ubiquitination at Lys108, isoforms=2, 3207, Lys335, isoforms=31008, and Lys1097
  • Modification sites at PhosphoSitePlus

Other Protein References for RPTOR Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RPTOR (Raptor)
  • Abcam antibodies for RPTOR

No data available for DME Specific Peptides for RPTOR Gene

Domains & Families for RPTOR Gene

Gene Families for RPTOR Gene

Suggested Antigen Peptide Sequences for RPTOR Gene

Graphical View of Domain Structure for InterPro Entry

Q8N122

UniProtKB/Swiss-Prot:

RPTOR_HUMAN :
  • Belongs to the WD repeat RAPTOR family.
Family:
  • Belongs to the WD repeat RAPTOR family.
genes like me logo Genes that share domains with RPTOR: view

Function for RPTOR Gene

Molecular function for RPTOR Gene

UniProtKB/Swiss-Prot 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. Involved in ciliogenesis.

Gene Ontology (GO) - Molecular Function for RPTOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001030 RNA polymerase III type 1 promoter DNA binding IDA 20233713
GO:0001031 RNA polymerase III type 2 promoter DNA binding IDA 20233713
GO:0001032 RNA polymerase III type 3 promoter DNA binding IDA 20233713
GO:0001156 TFIIIC-class transcription factor binding IDA 20543138
GO:0005515 protein binding IPI 12150925
genes like me logo Genes that share ontologies with RPTOR: view
genes like me logo Genes that share phenotypes with RPTOR: view

Animal Models for RPTOR Gene

MGI Knock Outs for RPTOR:

Animal Model Products

CRISPR Products

miRNA for RPTOR Gene

miRTarBase miRNAs that target RPTOR

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RPTOR

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RPTOR Gene

Localization for RPTOR Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPTOR Gene

Cytoplasm. Lysosome. Cytoplasmic granule. Note=Targeting to lysosomes depends on amino acid availability. In arsenite-stressed cells, accumulates in stress granules when associated with SPAG5 and association with lysosomes is drastically decreased.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPTOR gene
Compartment Confidence
nucleus 5
cytosol 5
lysosome 5
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RPTOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 20381137
GO:0005764 lysosome IEA,IMP 22424946
GO:0005765 lysosomal membrane IDA 17897319
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RPTOR: view

Pathways & Interactions for RPTOR Gene

genes like me logo Genes that share pathways with RPTOR: view

SIGNOR curated interactions for RPTOR Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for RPTOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001938 positive regulation of endothelial cell proliferation IEA --
GO:0007050 cell cycle arrest TAS --
GO:0008361 regulation of cell size IMP 12150925
GO:0009267 cellular response to starvation IBA --
GO:0010506 regulation of autophagy IBA --
genes like me logo Genes that share ontologies with RPTOR: view

Drugs & Compounds for RPTOR Gene

(21) Drugs for RPTOR Gene - From: ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sirolimus Approved, Investigational Pharma inhibitor Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 1940
Temsirolimus Approved Pharma Inhibition, inhibitor, Biomarker MTOR inhibitor, mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors, mTOR inhibitor; antitumor 0
OSI-027 Pharma inhibitor MTORC1/ mTORC2 inhibitor, Kinase Inhibitors 0
AZD2014 Pharma Novel mTOR inhibitor 0
GDC-0349 Pharma MTOR inhibitor 0

(12) ApexBio Compounds for RPTOR Gene

Compound Action Cas Number
AZD2014 Novel mTOR inhibitor 1009298-59-2
GDC-0349 MTOR inhibitor 1207360-89-1
GDC-0980 (RG7422) Class I PI3K inhibitor for PI3Kα/β/δ/γ 1032754-93-0
INK 128 (MLN0128) MTOR(TORC-1/-2) inhibitor,potent and selective 1224844-38-5
KU-0063794 MTORC1 and mTORC2 inhibitor 938440-64-3
OSI-027 MTORC1/ mTORC2 inhibitor 936890-98-1
Ridaforolimus (Deforolimus, MK-8669) MTOR inhibitor 572924-54-0
WAY-600 MTOR inhibitor 1062159-35-6
WYE-125132 (WYE-132) ATP-competitive mTOR inhibitor, highly potent 1144068-46-1
WYE-354 MTOR inhibitor,potent,ATP-competitive and cell-permeable 1062169-56-5
WYE-687 MTOR inhibitor,ATP-competitive and selective 1062161-90-3
XL388 MTOR inhibitor,highly potent and selective 1251156-08-7
genes like me logo Genes that share compounds with RPTOR: view

Transcripts for RPTOR Gene

Unigene Clusters for RPTOR Gene

Regulatory associated protein of MTOR, complex 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for RPTOR

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPTOR Gene

No ASD Table

Relevant External Links for RPTOR Gene

GeneLoc Exon Structure for
RPTOR
ECgene alternative splicing isoforms for
RPTOR

Expression for RPTOR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPTOR Gene

Protein differential expression in normal tissues from HIPED for RPTOR Gene

This gene is overexpressed in Pancreas (55.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPTOR Gene



Protein tissue co-expression partners for RPTOR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPTOR Gene:

RPTOR

SOURCE GeneReport for Unigene cluster for RPTOR Gene:

Hs.133044

mRNA Expression by UniProt/SwissProt for RPTOR Gene:

Q8N122-RPTOR_HUMAN
Tissue specificity: Highly expressed in skeletal muscle, and in a lesser extent in brain, lung, small intestine, kidney and placenta. Isoform 3 is widely expressed, with highest levels in nasal mucosa and pituitary and lowest in spleen.

Evidence on tissue expression from TISSUES for RPTOR Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Muscle(2.3)
  • Blood(2)
genes like me logo Genes that share expression patterns with RPTOR: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPTOR Gene

Orthologs for RPTOR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPTOR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPTOR 34 35
  • 99.15 (n)
oppossum
(Monodelphis domestica)
Mammalia RPTOR 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RPTOR 34 35
  • 89.71 (n)
dog
(Canis familiaris)
Mammalia RPTOR 34 35
  • 88.86 (n)
rat
(Rattus norvegicus)
Mammalia Rptor 34
  • 87.64 (n)
mouse
(Mus musculus)
Mammalia Rptor 34 16 35
  • 87.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RPTOR 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPTOR 34 35
  • 82.92 (n)
lizard
(Anolis carolinensis)
Reptilia RPTOR 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rptor 34
  • 75.45 (n)
Str.12067 34
zebrafish
(Danio rerio)
Actinopterygii rptor 34 35
  • 74.81 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010035 34
  • 64.76 (n)
fruit fly
(Drosophila melanogaster)
Insecta raptor 34 35
  • 54.35 (n)
worm
(Caenorhabditis elegans)
Secernentea daf-15 35
  • 23 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR331C 34
  • 50.97 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KOG1 34 35 37
  • 48.6 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09471g 34
  • 48.32 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RAPTOR2 34
  • 49.64 (n)
rice
(Oryza sativa)
Liliopsida Os12g0110000 34
  • 55.1 (n)
Os.3740 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 70 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00621 34
  • 52.04 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mip1 34
  • 48.53 (n)
Species where no ortholog for RPTOR was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPTOR Gene

ENSEMBL:
Gene Tree for RPTOR (if available)
TreeFam:
Gene Tree for RPTOR (if available)

Paralogs for RPTOR Gene

(1) SIMAP similar genes for RPTOR Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with RPTOR: view

No data available for Paralogs for RPTOR Gene

Variants for RPTOR Gene

Sequence variations from dbSNP and Humsavar for RPTOR Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000009452 -- 80,606,736(+) TCACT(A/T)CTGTT intron-variant
rs1000013745 -- 80,602,708(+) TTGGC(A/C)CAGAC intron-variant
rs1000019348 -- 80,795,778(+) GCAGA(A/G)TGGAC intron-variant
rs1000024292 -- 80,890,823(+) GAGTG(A/C)GTAGA intron-variant
rs1000025847 -- 80,931,303(+) GGAAG(A/T)GGTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RPTOR Gene

Variant ID Type Subtype PubMed ID
dgv1521n106 CNV deletion 24896259
dgv1829e59 CNV duplication 20981092
dgv190e215 CNV deletion 23714750
dgv431e201 CNV deletion 23290073
dgv432e201 CNV deletion 23290073
dgv5795n54 CNV gain+loss 21841781
dgv5796n54 CNV loss 21841781
dgv5797n54 CNV loss 21841781
dgv5798n54 CNV loss 21841781
dgv591e214 CNV gain 21293372
dgv966e212 CNV gain 25503493
esv1000448 CNV deletion 20482838
esv1005839 CNV insertion 20482838
esv1007678 CNV deletion 20482838
esv1009971 CNV deletion 20482838
esv1087588 CNV insertion 17803354
esv1175895 CNV insertion 17803354
esv1198916 CNV deletion 17803354
esv1257641 CNV deletion 17803354
esv1272153 CNV insertion 17803354
esv1283102 CNV deletion 17803354
esv1343992 CNV insertion 17803354
esv1366509 CNV deletion 17803354
esv1400864 CNV deletion 17803354
esv1410733 CNV deletion 17803354
esv1469675 CNV deletion 17803354
esv1499151 CNV insertion 17803354
esv1522120 CNV deletion 17803354
esv1576909 CNV insertion 17803354
esv1605798 CNV deletion 17803354
esv1674602 CNV insertion 17803354
esv1689211 CNV insertion 17803354
esv1733088 CNV deletion 17803354
esv1734821 CNV deletion 17803354
esv2145853 CNV deletion 18987734
esv2255721 CNV deletion 18987734
esv24254 CNV gain+loss 19812545
esv2446389 CNV insertion 19546169
esv26223 CNV gain+loss 19812545
esv2639854 CNV deletion 19546169
esv2643427 CNV deletion 19546169
esv2660312 CNV deletion 23128226
esv2663988 CNV deletion 23128226
esv2665231 CNV deletion 23128226
esv2668947 CNV deletion 23128226
esv2716381 CNV deletion 23290073
esv2716382 CNV deletion 23290073
esv2716383 CNV deletion 23290073
esv2716384 CNV deletion 23290073
esv2716386 CNV deletion 23290073
esv2716387 CNV deletion 23290073
esv2716388 CNV deletion 23290073
esv2716389 CNV deletion 23290073
esv2716390 CNV deletion 23290073
esv2716391 CNV deletion 23290073
esv2716392 CNV deletion 23290073
esv2716393 CNV deletion 23290073
esv2716394 CNV deletion 23290073
esv2716395 CNV deletion 23290073
esv2716397 CNV deletion 23290073
esv2716399 CNV deletion 23290073
esv2716401 CNV deletion 23290073
esv2716402 CNV deletion 23290073
esv2716403 CNV deletion 23290073
esv2716404 CNV deletion 23290073
esv2716405 CNV deletion 23290073
esv2716406 CNV deletion 23290073
esv2716408 CNV deletion 23290073
esv2716409 CNV deletion 23290073
esv2716410 CNV deletion 23290073
esv2716411 CNV deletion 23290073
esv2716412 CNV deletion 23290073
esv2716413 CNV deletion 23290073
esv2716414 CNV deletion 23290073
esv2716415 CNV deletion 23290073
esv2716416 CNV deletion 23290073
esv2761982 CNV gain 21179565
esv3147123 CNV deletion 24192839
esv3381947 CNV duplication 20981092
esv3421963 CNV duplication 20981092
esv3435843 CNV duplication 20981092
esv3554862 CNV deletion 23714750
esv3554865 CNV deletion 23714750
esv3554867 CNV deletion 23714750
esv3554868 CNV deletion 23714750
esv3573853 CNV gain 25503493
esv3582922 CNV loss 25503493
esv3641383 CNV loss 21293372
esv3641384 CNV loss 21293372
esv3641385 CNV loss 21293372
esv3641386 CNV gain 21293372
esv6816 CNV gain 19470904
esv988487 CNV deletion 20482838
esv991324 CNV loss 20482838
esv995334 CNV deletion 20482838
nsv1056989 CNV gain 25217958
nsv1064753 CNV gain 25217958
nsv1070851 CNV deletion 25765185
nsv1070852 CNV deletion 25765185
nsv1109113 CNV deletion 24896259
nsv112123 CNV deletion 16902084
nsv112141 CNV deletion 16902084
nsv112459 CNV insertion 16902084
nsv1125642 CNV tandem duplication 24896259
nsv1127603 CNV deletion 24896259
nsv1129597 CNV tandem duplication 24896259
nsv1131340 CNV deletion 24896259
nsv1148515 CNV deletion 26484159
nsv1150981 CNV insertion 26484159
nsv1152096 CNV deletion 26484159
nsv1153154 CNV deletion 26484159
nsv1153714 CNV deletion 26484159
nsv2159 CNV deletion 18451855
nsv457969 CNV loss 19166990
nsv457970 CNV gain 19166990
nsv470617 CNV gain 18288195
nsv470618 CNV gain 18288195
nsv473712 CNV novel sequence insertion 20440878
nsv473820 CNV novel sequence insertion 20440878
nsv476843 CNV novel sequence insertion 20440878
nsv509675 CNV insertion 20534489
nsv509676 CNV insertion 20534489
nsv510730 CNV deletion 20534489
nsv512509 CNV loss 21212237
nsv513488 CNV insertion 21212237
nsv523005 CNV loss 19592680
nsv524591 CNV loss 19592680
nsv526008 CNV loss 19592680
nsv576140 CNV loss 21841781
nsv576141 CNV loss 21841781
nsv576151 CNV gain 21841781
nsv576153 CNV loss 21841781
nsv576159 CNV loss 21841781
nsv576160 CNV loss 21841781
nsv576163 CNV loss 21841781
nsv576164 CNV gain 21841781
nsv576165 CNV loss 21841781
nsv576166 CNV loss 21841781
nsv576167 CNV gain 21841781
nsv576168 CNV gain 21841781
nsv819049 CNV loss 19587683
nsv828128 CNV loss 20364138
nsv828129 CNV loss 20364138
nsv833563 CNV gain 17160897
nsv952386 CNV deletion 24416366
nsv960151 CNV duplication 23825009
nsv978467 CNV duplication 23825009

Variation tolerance for RPTOR Gene

Residual Variation Intolerance Score: 0.813% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPTOR Gene

Human Gene Mutation Database (HGMD)
RPTOR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPTOR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPTOR Gene

Disorders for RPTOR Gene

MalaCards: The human disease database

(6) MalaCards diseases for RPTOR Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
aqueous misdirection
rubeosis iridis
hemopericardium
  • haemopericardium
blackwater fever
  • black water fever
moyamoya disease
  • moyamoya disease 3
- elite association - COSMIC cancer census association via MalaCards
Search RPTOR in MalaCards View complete list of genes associated with diseases

Relevant External Links for RPTOR

Genetic Association Database (GAD)
RPTOR
Human Genome Epidemiology (HuGE) Navigator
RPTOR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPTOR
genes like me logo Genes that share disorders with RPTOR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RPTOR Gene

Publications for RPTOR Gene

  1. Raptor, a binding partner of target of rapamycin (TOR), mediates TOR action. (PMID: 12150926) Hara K. … Yonezawa K. (Cell 2002) 2 3 4 22 64
  2. Regulation of mTOR complex 1 (mTORC1) by raptor Ser863 and multisite phosphorylation. (PMID: 19864431) Foster K.G. … Fingar D.C. (J. Biol. Chem. 2010) 3 4 22 64
  3. Oncogenic MAPK signaling stimulates mTORC1 activity by promoting RSK- mediated raptor phosphorylation. (PMID: 18722121) Carriere A. … Roux P.P. (Curr. Biol. 2008) 3 4 22 64
  4. Dissociation of raptor from mTOR is a mechanism of rapamycin-induced inhibition of mTOR function. (PMID: 15066126) Oshiro N. … Yonezawa K. (Genes Cells 2004) 3 4 22 64
  5. mTOR interacts with raptor to form a nutrient-sensitive complex that signals to the growth machinery. (PMID: 12150925) Kim D.-H. … Sabatini D.M. (Cell 2002) 3 4 22 64

Products for RPTOR Gene

Sources for RPTOR Gene

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