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RPTOR Gene

protein-coding   GIFtS: 64
GCID: GC17P078518

Regulatory Associated Protein Of MTOR, Complex 1

  See RPTOR-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Regulatory Associated Protein Of MTOR, Complex 11 2     P150 Target Of Rapamycin (TOR)-Scaffold Protein Containing WD-Repeats2
KIAA13033 5     raptor2
RAPTOR3 5     Regulatory-Associated Protein Of MTOR2
Regulatory Associated Protein Of MTOR1     Raptor3
KOG12     P150 Target Of Rapamycin (TOR)-Scaffold Protein3
Mip12     

External Ids:    HGNC: 302871   Entrez Gene: 575212   Ensembl: ENSG000001415647   OMIM: 6071305   UniProtKB: Q8N1223   

Export aliases for RPTOR gene to outside databases

Previous GC identifers: GC17P076135 GC17P073954


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 lens subluxation. GO annotations related to this gene include protein kinase binding and 14-3-3 protein binding.

UniProtKB/Swiss-Prot: RPTOR_HUMAN, Q8N122
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 Wiki entry for RPTOR (KIAA1303) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   Search for regulatory transcription factor binding sites for RPTOR
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for RPTOR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPTOR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

RPTOR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPTOR gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P078518:  view genomic region     (about GC identifiers)

Start:
78,518,619 bp from pter      End:
78,940,173 bp from pter
Size:
421,555 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RPTOR_HUMAN, Q8N122 (See protein sequence)
Recommended Name: Regulatory-associated protein of mTOR  
Size: 1335 amino acids; 149038 Da
Subunit: 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
Secondary accessions: B2RN36 Q8N4V9 Q8TB32 Q9P2P3
Alternative splicing: 2 isoforms:  Q8N122-1   Q8N122-2   

Explore the universe of human proteins at neXtProt for RPTOR: NX_Q8N122

Explore proteomics data for RPTOR at MOPED

Post-translational modifications: 

  • 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
    activity1
  • Ubiquitination2 at Lys108, Lys207, Lys335, Lys1008, Lys1097
  • Modification sites at PhosphoSitePlus

  • See RPTOR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001156506.1  NP_065812.1  

    ENSEMBL proteins: 
     ENSP00000459701   ENSP00000460136   ENSP00000307272   ENSP00000442479   ENSP00000460940  
     ENSP00000440947  
    Reactome Protein details: Q8N122

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    Cloud-Clone Corp. Proteins for RPTOR

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing

    Selected InterPro protein domains (see all 8):
     IPR000357 HEAT
     IPR027466 Raptor_metazoan
     IPR011989 ARM-like
     IPR004083 Raptor
     IPR001680 WD40_repeat

    Graphical View of Domain Structure for InterPro Entry Q8N122

    ProtoNet protein and cluster: Q8N122

    2 Blocks protein domains:
    IPB000357 HEAT repeat
    IPB004083 Saccharomyces cerevisiae 175.8kDa hypothetical protein signature


    UniProtKB/Swiss-Prot: RPTOR_HUMAN, Q8N122
    Similarity: Belongs to the WD repeat RAPTOR family
    Similarity: Contains 7 WD repeats


    Find genes that share domains with RPTOR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RPTOR_HUMAN, Q8N122
    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): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001030RNA polymerase III type 1 promoter DNA binding IDA--
    GO:0001031RNA polymerase III type 2 promoter DNA binding IDA--
    GO:0001032RNA polymerase III type 3 promoter DNA binding IDA--
    GO:0001156TFIIIC-class transcription factor binding IDA--
    GO:0005488binding ----
         
    Find genes that share ontologies with RPTOR           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RPTOR:
     Decreased homologous recombina 

         14 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Rptor):
     adipose tissue  behavior/neurological  cellular  digestive/alimentary  embryogenesis 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  muscle  reproductive system  skeleton 

    Find genes that share phenotypes with RPTOR           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for RPTOR: Rptortm1.1Rueg Rptortm1Lex

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RPTOR
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    Block miRNA regulation of human, mouse, rat RPTOR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RPTOR (see all 11):
    hsa-miR-323-3p hsa-miR-4289 hsa-miR-4271 hsa-miR-130a* hsa-miR-23c hsa-miR-145* hsa-miR-183* hsa-miR-23b
    SwitchGear 3'UTR luciferase reporter plasmidRPTOR 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RPTOR_HUMAN, Q8N122: 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: 

    CompartmentConfidence
    lysosome5
    vacuole5
    cytosol4
    cytoskeleton1
    endoplasmic reticulum1
    golgi apparatus1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005764lysosome IDA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005829cytosol TAS--
    GO:0031931TORC1 complex IDA15467718

    Find genes that share ontologies with RPTOR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RPTOR About   (see all 14)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Insulin receptor signalling cascade
    Insulin receptor signalling cascade0.94
    PKB-mediated events0.41
    IRS-related events0.94
    mTOR signalling0.39
    IRS-mediated signalling0.92
    TOR signaling0.32
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.92
    Energy dependent regulation of mTOR by LKB1-AMPK0.00
    2Translation Insulin regulation of translation
    mTOR signaling pathway0.34
    Insulin signaling pathway0.32
    3Signaling by GPCR
    Signal Transduction0.58
    4Prostate Cancer
    Prostate Cancer0.32
    5Translational Control
    Translational Control


    Find genes that share SuperPaths with RPTOR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for RPTOR
        Akt Signaling Pathway

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RPTOR
        AMPK Enzyme Complex Pathway
    Molecular Mechanisms of Cancer
    mTOR Pathway

    2 Cell Signaling Technology (CST) Pathways for RPTOR
        Translational Control
    Glucose / Energy Metabolism

    Selected BioSystems Pathways for RPTOR (see all 7)
        TOR signaling
    AMPK signaling
    Interferon type I
    Prostate Cancer
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)


    5 Reactome Pathways for RPTOR
        Release of eIF4E
    HSF1-dependent transactivation
    Regulation of AMPK activity via LKB1
    S6K1-mediated signalling
    mTOR signalling


    4 Kegg Pathways  (Kegg details for RPTOR):
        mTOR signaling pathway
    PI3K-Akt signaling pathway
    Insulin signaling pathway
    MicroRNAs in cancer

        Pathway & Disease-focused RT2 Profiler PCR Array including RPTOR: 
              mTOR Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RPTOR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RPTOR (Q8N1221, 2, 3 ENSP000003072724) via UniProtKB, MINT, STRING, and/or I2D (see all 170)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF4EBP1Q135411, 2, 3, ENSP000003406914EBI-1567928,EBI-74090 MINT-6549354 I2D: score=5 STRING: ENSP00000340691
    RICTORQ6R3272, 3, ENSP000003499594MINT-7556024 MINT-8150419 I2D: score=2 STRING: ENSP00000349959
    MAPKAP1Q9BPZ72, 3, ENSP000002659604MINT-7556024 MINT-8150419 I2D: score=1 STRING: ENSP00000265960
    MLST8Q9BVC41, 3, ENSP000003718884EBI-1567928,EBI-1387471 I2D: score=7 STRING: ENSP00000371888
    RPS6P627532, 3, ENSP000003697574MINT-8088311 I2D: score=1 STRING: ENSP00000369757
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001938positive regulation of endothelial cell proliferation IEA--
    GO:0007050cell cycle arrest TAS--
    GO:0008286insulin receptor signaling pathway TAS--
    GO:0008361regulation of cell size IMP12150925
    GO:0016049cell growth IMP--

    Find genes that share ontologies with RPTOR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RPTOR

    2 Novoseek inferred chemical compound relationships for RPTOR gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rapamycin 87.4 25 15066126 (5), 18722121 (2), 12718876 (2), 16798736 (1) (see all 15)
    serine 22.9 1 20203102 (1)



    Find genes that share compounds with RPTOR           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RPTOR gene (2 alternative transcripts): 
    NM_001163034.1  NM_020761.2  

    Unigene Cluster for RPTOR:

    Regulatory associated protein of MTOR, complex 1
    Hs.133044  [show with all ESTs]
    Unigene Representative Sequence: NM_020761
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000574767 ENST00000577161 ENST00000570891(uc002jys.3) ENST00000306801(uc002jyt.1 uc010wug.1)
    ENST00000544334 ENST00000573746 ENST00000572733 ENST00000575542(uc002jyu.1)
    ENST00000576366 ENST00000573837 ENST00000573163 ENST00000537330(uc010wuf.1)

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    hsa-miR-323-3p hsa-miR-4289 hsa-miR-4271 hsa-miR-130a* hsa-miR-23c hsa-miR-145* hsa-miR-183* hsa-miR-23b
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    Additional mRNA sequence: 

    AB037724.1 AB082951.1 AK055912.1 AK295964.1 AK296321.1 AY090663.1 BC014502.1 BC025180.1 
    BC033258.1 BC033699.1 BC041079.1 BC064515.1 BC073898.1 BC136652.1 BC136654.1 GQ183898.1 

    9 DOTS entries:

    DT.413296  DT.100749451  DT.100836007  DT.100758660  DT.65285420  DT.100001522  DT.95274834  DT.95274839 
    DT.97772244 

    Selected AceView cDNA sequences (see all 165):

    AI028378 AB082951 BU153684 CR608664 BC073898 BM455531 BM854064 CA310481 
    BC064515 BM981742 AA629126 BM556894 BU187764 BM809091 BM474228 BM718442 
    CA426914 BM725017 BM680224 CF272460 BM914430 BM069709 F05454 BF346801 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RPTOR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RPTOR Expression
    About this image

    RPTOR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPTOR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.133044

    UniProtKB/Swiss-Prot: RPTOR_HUMAN, Q8N122
    Tissue specificity: Highly expressed in skeletal muscle, and in a lesser extent in brain, lung, small intestine,
    kidney and placenta

        Pathway & Disease-focused RT2 Profiler PCR Array including RPTOR: 
              mTOR Signaling in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RPTOR gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rptor1 , 5 regulatory associated protein of MTOR, complex 11, 5 87.44(n)1
    96.63(a)1
      11 (83.96 cM)5
    743701  NM_028898.21  NP_083174.21 
     1196029055 
    chicken
    (Gallus gallus)
    Aves RPTOR1 regulatory associated protein of MTOR, complex 1 82.92(n)
    95.06(a)
      428674  XM_426232.4  XP_426232.2 
    lizard
    (Anolis carolinensis)
    Reptilia RPTOR6
    regulatory associated protein of MTOR, complex 1
    95(a)
    1 ↔ 1
    2(99750863-100048351)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.120672 Transcribed sequence with weak similarity to protein pirS46686 (S. cerevisiae) S46686 hypothetical protein YHR186c - yeast (Saccharomyces cerevisiae) less 74.41(n)    BX704129.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rptor1 regulatory associated protein of MTOR, complex 1 74.81(n)
    88.2(a)
      560455  XM_005157354.1  XP_005157411.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta raptor1 raptor 54.35(n)
    50(a)
      31543  NM_132066.2  NP_572294.2 
    worm
    (Caenorhabditis elegans)
    Secernentea daf-156
    Protein DAF-15, isoform b (daf-15) mRNA, complete ...
    23(a)
    1 ↔ 1
    IV(9386208-9394922) WBGene00000911
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KOG1(YHR186C)4
    KOG11
    Subunit of TORC1, a rapamycin-sensitive complex involved in growth control that contains Tor1p or Tor2p, Lst8p and Tco89p; contains four HEAT repeats and seven WD-40 repeats; may act as a scaffold protein to couple TOR and its effectors less4
    KOG11
    48.6(n)1
    45(a)1
      8(480672-475999)4
    8565931, 4  NP_012056.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RAPTOR21 RAPTOR2 49.64(n)
    45.88(a)
      831681  NM_120255.3  NP_195797.3 
    rice
    (Oryza sativa)
    Liliopsida Os.37402 Oryza sativa (japonica cultivar-group) mRNA for dsRNA-binding protein ODB1, complete cds less 73.07(n)    AY491431.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RPTOR gene
    1 SIMAP similar gene for RPTOR using alignment to 5 protein entries:     RPTOR_HUMAN (see all proteins):
    raptor

    Find genes that share paralogs with RPTOR           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RPTOR (see all 10758)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1116366741,2
    C--73971640(+) GTGTTTA/-TGTCT 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs353561921,2
    C--74008093(+) CCATGT/-TTTTT 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs124511641,2
    C,H--74012726(+) cctccT/Cggacg 2 -- int1 trp32Minor allele frequency- C:0.00NA 4
    rs1121720821,2
    C,F--74012744(+) TGGCCG/AGGCGG 2 -- int11Minor allele frequency- A:0.50NA 2
    rs1865630921,2
    --74012774(+) CCCTCC/GCGGAC 2 -- int10--------
    rs48900531,2
    C,F--74012780(+) CGGACG/AGGGCG 2 -- int11Minor allele frequency- A:0.50NA 2
    rs1459497661,2
    --74012800(+) GCAGA-/GGGGC 
            
    TGGTT
    2 -- int10--------
    rs1418726931,2
    C--74020100(+) TTGGT-/TGTGTGT 2 -- int10--------
    rs3731574151,2
    C--74020101(+) GTTGG-/TGGTGTG 2 -- int10--------
    rs345314541,2
    C--74027096(+) TGGAG-/AAAAAA 2 -- int11Minor allele frequency- A:0.00NA 2

    HapMap Linkage Disequilibrium report for RPTOR (78518619 - 78768619 bp, first 250kb of RPTOR)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RPTOR (see all 106):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2716416CNV Deletion23290073
    esv2716413CNV Deletion23290073
    esv2716393CNV Deletion23290073
    esv2716415CNV Deletion23290073
    esv1283102CNV Deletion17803354
    esv1605798CNV Deletion17803354
    esv1009971CNV Deletion20482838
    esv2716411CNV Deletion23290073
    esv2716381CNV Deletion23290073
    esv1198916CNV Deletion17803354

    Human Gene Mutation Database (HGMD): RPTOR
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RPTOR
    DNA2.0 Custom Variant and Variant Library Synthesis for RPTOR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607130    OMIM disorders: --

    1 disease for RPTOR:    
    About MalaCards
    lens subluxation

    2 diseases from the University of Copenhagen DISEASES database for RPTOR:
    Tuberous sclerosis     Lens subluxation

    Find genes that share disorders with RPTOR           About GenesLikeMe

    Genetic Association Database (GAD): RPTOR
    Human Genome Epidemiology (HuGE) Navigator: RPTOR (0 documents)

    Export disorders for RPTOR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RPTOR gene, integrated from 10 sources (see all 140):
    (articles sorted by number of sources associating them with RPTOR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Raptor, a binding partner of target of rapamycin (TOR), mediates TOR action. (PubMed id 12150926)1, 2, 3, 9 Hara K.... Yonezawa K. (Cell 2002)
    2. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10718198)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
    3. Regulation of mTOR complex 1 (mTORC1) by raptor Ser863 and multisite phosphorylation. (PubMed id 19864431)1, 2, 9 Foster K.G.... Fingar D.C. (J. Biol. Chem. 2010)
    4. Oncogenic MAPK signaling stimulates mTORC1 activity by promoting RSK- mediated raptor phosphorylation. (PubMed id 18722121)1, 2, 9 Carriere A.... Roux P.P. (Curr. Biol. 2008)
    5. Dissociation of raptor from mTOR is a mechanism of rapamycin-induced inhibition of mTOR function. (PubMed id 15066126)1, 2, 9 Oshiro N.... Yonezawa K. (Genes Cells 2004)
    6. mTOR interacts with raptor to form a nutrient-sensitive complex that signals to the growth machinery. (PubMed id 12150925)1, 2, 9 Kim D.-H.... Sabatini D.M. (Cell 2002)
    7. Osmotic stress regulates mammalian target of rapamycin (mTOR) complex 1 via c-Jun N-terminal Kinase (JNK)-mediated Raptor protein phosphorylation. (PubMed id 22493283)1, 2 Kwak D.... Ryu S.H. (J. Biol. Chem. 2012)
    8. Nutrient-dependent mTORC1 association with the ULK1-Atg13-FIP200 complex required for autophagy. (PubMed id 19211835)1, 2 Hosokawa N....Mizushima N. (Mol. Biol. Cell 2009)
    9. AMPK phosphorylation of raptor mediates a metabolic checkpoint. (PubMed id 18439900)1, 2 Gwinn D.M.... Shaw R.J. (Mol. Cell 2008)
    10. PRAS40 is an insulin-regulated inhibitor of the mTORC1 protein kinase. (PubMed id 17386266)1, 2 Sancak Y.... Sabatini D.M. (Mol. Cell 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57521 HGNC: 30287 AceView: raptor Ensembl:ENSG00000141564 euGenes: HUgn57521
    ECgene: RPTOR Kegg: 57521 H-InvDB: RPTOR

    (According to HUGE)
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    HUGE: KIAA1303

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RPTOR Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RPTOR gene:
    Search GeneIP for patents involving RPTOR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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