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Aliases for RPTOR Gene

Aliases for RPTOR Gene

  • Regulatory Associated Protein Of MTOR Complex 1 2 3
  • Regulatory Associated Protein Of MTOR, Complex 1 2 3 5
  • Raptor 3 4
  • P150 Target Of Rapamycin (TOR)-Scaffold Protein Containing WD-Repeats 3
  • P150 Target Of Rapamycin (TOR)-Scaffold Protein 4
  • Regulatory Associated Protein Of MTOR 2
  • 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 Moyamoya Disease. Among its related pathways are p53 Pathway (RnD) and Prostate Cancer. 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around RPTOR on UCSC Golden Path with GeneCards custom track

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. 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. Interacts with SPAG5; SPAG5 competes with MTOR for RPTOR-binding, resulting in decreased mTORC1 formation. Interacts with G3BP1. The complex formed with G3BP1 AND SPAG5 is increased by oxidative stress. Interacts with HTR6 (PubMed:23027611). Interacts with PIH1D1 (PubMed:24036451). Interacts with BRAT1.

    Alternative splice isoforms for RPTOR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RPTOR Gene

Proteomics data for RPTOR Gene at MOPED

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 Lys 108, Lys 207, Lys 335, Lys 1008, and Lys 1097
  • Modification sites at PhosphoSitePlus

Other Protein References for RPTOR Gene

Antibody Products

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

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.
  • Contains 7 WD repeats.
Family:
  • Belongs to the WD repeat RAPTOR family.
Similarity:
  • Contains 7 WD repeats.
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:0001156 TFIIIC-class transcription factor binding IDA 20543138
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

miRNA for RPTOR Gene

miRTarBase miRNAs that target RPTOR

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
Jensen Localization Image for RPTOR Gene COMPARTMENTS Subcellular localization image for RPTOR gene
Compartment Confidence
cytosol 5
lysosome 5
nucleus 5
vacuole 5
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RPTOR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030425 dendrite IEA --
GO:0043025 neuronal cell body IEA --
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:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0008361 regulation of cell size IMP 12150925
GO:0016049 cell growth IMP 20381137
GO:0031669 cellular response to nutrient levels IMP 12150925
genes like me logo Genes that share ontologies with RPTOR: view

Drugs & Compounds for RPTOR Gene

(20) 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 1835
Temsirolimus Approved Pharma Inhibition, inhibitor, Biomarker MTOR inhibitor, mTOR inhibitor, mTOR Inhibitors, Kinase Inhibitors, Mammalian target of rapamycin (mTOR) inhibitors 0
OSI-027 Pharma inhibitor MTORC1/ mTORC2 inhibitor, Kinase Inhibitors 0
AZD2014 Pharma Novel mTOR inhibitor 0
GDC-0349 Pharma MTOR inhibitor 0

(11) 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
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:

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 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, MOPED, and MaxQB for RPTOR Gene



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.
genes like me logo Genes that share expression patterns with RPTOR: view

Protein tissue co-expression partners for RPTOR Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia RPTOR 35
  • 89.71 (n)
  • 96.55 (a)
RPTOR 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RPTOR 35
  • 88.86 (n)
  • 95.96 (a)
RPTOR 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rptor 35
  • 87.44 (n)
  • 96.63 (a)
Rptor 16
Rptor 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RPTOR 35
  • 99.15 (n)
  • 99.33 (a)
RPTOR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rptor 35
  • 87.64 (n)
  • 96.78 (a)
oppossum
(Monodelphis domestica)
Mammalia RPTOR 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RPTOR 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPTOR 35
  • 82.92 (n)
  • 95.06 (a)
RPTOR 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RPTOR 36
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rptor 35
  • 75.45 (n)
  • 89.2 (a)
Str.12067 35
zebrafish
(Danio rerio)
Actinopterygii rptor 35
  • 74.81 (n)
  • 88.2 (a)
rptor 36
  • 86 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010035 35
  • 64.76 (n)
  • 68.83 (a)
fruit fly
(Drosophila melanogaster)
Insecta raptor 35
  • 54.35 (n)
  • 50 (a)
raptor 36
  • 38 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea daf-15 36
  • 23 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR331C 35
  • 50.97 (n)
  • 46.67 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09471g 35
  • 48.32 (n)
  • 45.52 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KOG1 35
  • 48.6 (n)
  • 45 (a)
KOG1 36
  • 31 (a)
OneToOne
KOG1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons RAPTOR2 35
  • 49.64 (n)
  • 45.88 (a)
rice
(Oryza sativa)
Liliopsida Os.3740 35
Os12g0110000 35
  • 55.1 (n)
  • 55.01 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00621 35
  • 52.04 (n)
  • 45.45 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mip1 35
  • 48.53 (n)
  • 47.22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 70 (a)
OneToOne
Species with no ortholog for RPTOR:
  • 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
rs13557 -- 80,966,020(-) GGACT(A/G)GATGG utr-variant-3-prime
rs999343 -- 80,943,223(-) GCCAA(A/G)GCCGC intron-variant
rs999977 -- 80,632,612(+) TTTGA(G/T)TTTAG intron-variant
rs1001385 -- 80,633,050(+) acctc(A/G)gcctc intron-variant
rs1006809 -- 80,644,156(+) AACCT(C/T)AACTA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3299n71 CNV Loss 21882294
esv24254 CNV Gain+Loss 19812545
nsv523005 CNV Loss 19592680
dgv3301n71 CNV Gain 21882294
esv1005839 CNV Insertion 20482838
esv1689211 CNV Insertion 17803354
esv2716381 CNV Deletion 23290073
esv2716382 CNV Deletion 23290073
esv2716383 CNV Deletion 23290073
esv2716384 CNV Deletion 23290073
esv1400864 CNV Deletion 17803354
esv2716386 CNV Deletion 23290073
dgv472e201 CNV Deletion 23290073
esv2716387 CNV Deletion 23290073
esv2639854 CNV Deletion 19546169
nsv512509 CNV Loss 21212237
esv2145853 CNV Deletion 18987734
esv2716388 CNV Deletion 23290073
nsv833563 CNV Gain 17160897
esv2716389 CNV Deletion 23290073
esv2716390 CNV Deletion 23290073
esv2716391 CNV Deletion 23290073
esv1175895 CNV Insertion 17803354
esv2716392 CNV Deletion 23290073
esv26223 CNV Gain+Loss 19812545
nsv828128 CNV Loss 20364138
esv2716393 CNV Deletion 23290073
esv1733088 CNV Deletion 17803354
nsv112123 CNV Loss 16902084
esv2716394 CNV Deletion 23290073
esv2665231 CNV Deletion 23128226
esv1009971 CNV Deletion 20482838
esv2716395 CNV Deletion 23290073
esv1366509 CNV Deletion 17803354
esv2255721 CNV Deletion 18987734
nsv513488 CNV Insertion 21212237
esv2446389 CNV Insertion 19546169
esv2716397 CNV Deletion 23290073
nsv524591 CNV Loss 19592680
nsv908995 CNV Gain 21882294
esv2660312 CNV Deletion 23128226
nsv2159 CNV Loss 18451855
nsv509675 CNV Insertion 20534489
esv988487 CNV Deletion 20482838
esv2643427 CNV Deletion 19546169
dgv473e201 CNV Deletion 23290073
esv1283102 CNV Deletion 17803354
esv2716399 CNV Deletion 23290073
esv1469675 CNV Deletion 17803354
esv1000448 CNV Deletion 20482838
esv1522120 CNV Deletion 17803354
esv2716401 CNV Deletion 23290073
esv2716402 CNV Deletion 23290073
esv995334 CNV Deletion 20482838
esv1198916 CNV Deletion 17803354
esv1272153 CNV Insertion 17803354
esv1343992 CNV Insertion 17803354
nsv510730 CNV Loss 20534489
dgv3302n71 CNV Loss 21882294
dgv3303n71 CNV Loss 21882294
dgv3304n71 CNV Loss 21882294
nsv909000 CNV Loss 21882294
esv2716403 CNV Deletion 23290073
esv2716404 CNV Deletion 23290073
nsv470617 CNV Gain 18288195
esv2716405 CNV Deletion 23290073
nsv909003 CNV Gain 21882294
nsv909005 CNV Loss 21882294
esv1734821 CNV Deletion 17803354
esv1410733 CNV Deletion 17803354
esv1605798 CNV Deletion 17803354
esv1257641 CNV Deletion 17803354
esv2716406 CNV Deletion 23290073
nsv828129 CNV Loss 20364138
nsv819049 CNV Loss 19587683
esv2668947 CNV Deletion 23128226
esv2716408 CNV Deletion 23290073
esv991324 CNV Loss 20482838
esv2716409 CNV Deletion 23290073
esv2716410 CNV Deletion 23290073
nsv509676 CNV Insertion 20534489
dgv3305n71 CNV Loss 21882294
nsv909008 CNV Loss 21882294
esv1674602 CNV Insertion 17803354
esv1576909 CNV Insertion 17803354
esv2716411 CNV Deletion 23290073
esv2716412 CNV Deletion 23290073
esv2716413 CNV Deletion 23290073
esv1007678 CNV Deletion 20482838
esv2663988 CNV Deletion 23128226
esv2716414 CNV Deletion 23290073
nsv112141 CNV Loss 16902084
esv2716415 CNV Deletion 23290073
nsv457969 CNV Loss 19166990
nsv457970 CNV Gain 19166990
esv1499151 CNV Insertion 17803354
nsv909009 CNV Gain 21882294
nsv909010 CNV Loss 21882294
nsv112459 CNV Insertion 16902084
nsv470618 CNV Gain 18288195
dgv3306n71 CNV Loss 21882294
dgv3307n71 CNV Loss 21882294
dgv3308n71 CNV Loss 21882294
esv2716416 CNV Deletion 23290073
esv1087588 CNV Insertion 17803354
nsv526008 CNV Loss 19592680

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

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

Disorders for RPTOR Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
aqueous misdirection
moyamoya disease
  • moyamoya disease 3
rubeosis iridis
lens subluxation
  • subluxation of lens
tyrosinemia, type ii
  • tyrosinemia type ii
- 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 23 67
  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 23
  3. Raptor is phosphorylated by cdc2 during mitosis. (PMID: 20169205) Gwinn D.M. … Shaw R.J. (PLoS ONE 2010) 3 23
  4. Regulation of mTORC1 and mTORC2 complex assembly by phosphatidic acid: competition with rapamycin. (PMID: 19114562) Toschi A. … Foster D.A. (Mol. Cell. Biol. 2009) 3 23
  5. The Rag GTPases bind raptor and mediate amino acid signaling to mTORC1. (PMID: 18497260) Sancak Y. … Sabatini D.M. (Science 2008) 3 23

Products for RPTOR Gene

Sources for RPTOR Gene

Content