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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RPTOR Gene

protein-coding   GIFtS: 62
GCID: GC17P078518

regulatory associated protein of MTOR, complex 1

 Explore 9 diseases affiliated with
RPTOR via our new
 Human Malady Compendium 
Biological research products
for RPTOR
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Regulatory Associated Protein Of MTOR, Complex 11 2     RAPTOR3 5
KIAA13031 3 5     P150 Target Of Rapamycin (TOR)-Scaffold Protein Containing WD-Repeats2
KOG11 2     Regulatory-Associated Protein Of MTOR2
Mip11 2     Raptor3
Raptor3     P150 Target Of Rapamycin (TOR)-Scaffold Protein3

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RPTOR:
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)

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

Gene Wiki entry for RPTOR (KIAA1303)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for RPTOR
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RPTOR_HUMAN, Q8N122 (See protein sequence)
Recommended Name: Regulatory-associated protein of mTOR  
Size: 1335 amino acids; 149038 Da
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
Subcellular location: Cytoplasm. Lysosome. Note=Targeting to lysosomes depends on amino acid availability
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N122

  • RPTOR Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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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    Uscn Proteins for RPTOR

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005764lysosome IDA--
    GO:0005829cytosol TAS--
    GO:0030425dendrite ----
    GO:0031931TORC1 complex IDA15467718


    RPTOR for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RPTOR for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR000357 HEAT
     IPR011989 ARM-like
     IPR004083 Raptor
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom

    Graphical View of Domain Structure for InterPro Entry Q8N122

    ProtoNet protein and cluster: Q8N122

    2 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    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:0005515protein binding IPI--


    RPTOR for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for RPTOR:
     Decreased homologous recombina 

    Animal Models:
         Mouse knock-outs for RPTOR: Rptortm1Lex Rptortm1.1Rueg
         14 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Rptor):
     adipose tissue  behavior/neurological  cellular  digestive/alimentary  embryogenesis 
     growth/size  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  muscle  reproductive system  skeleton 

    RPTOR for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/12 super-pathways (see all 12About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1IRS-related events
    IRS-related events1.00
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.90
    IRS-mediated signalling0.98
    IGF1R signaling cascade0.90
    Insulin receptor signalling cascade0.94
    PI3K Cascade0.84
    IRS-related events triggered by IGF1R0.93
    Signaling by Insulin receptor0.74
    2mTOR signalling
    mTOR signalling1.00
    TOR signaling0.33
    PKB-mediated events0.96
    3mTORC1-mediated signalling
    mTORC1-mediated signalling1.00
    Release of eIF4E0.55
    S6K1-mediated signalling0.82
    4Energy dependent regulation of mTOR by LKB1-AMPK
    Energy dependent regulation of mTOR by LKB1-AMPK1.00
    Regulation of AMPK activity via LKB10.82
    5Development_CNTF receptor signaling
    mTOR signaling pathway0.22
    Insulin signaling pathway0.17

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5 BioSystems Pathways for RPTOR 
        AMPK signaling
    TOR signaling
    LKB1 signaling events
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    mTOR signaling pathway

    5/16        Reactome Pathways for RPTOR (see all 16)
        Release of eIF4E
    PI3K Cascade
    Regulation of AMPK activity via LKB1
    IGF1R signaling cascade
    mTOR signalling


    2         Kegg Pathways  (Kegg details for RPTOR):
        mTOR signaling pathway
    Insulin signaling pathway


    RPTOR for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RPTOR

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

    5/96 Interacting proteins for RPTOR (Q8N1221, 2, 3 ENSP000003072724) via UniProtKB, MINT, STRING, and/or I2D (see all 96)
    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
    MLST8Q9BVC41, 3, ENSP000003718884EBI-1567928,EBI-1567843 I2D: score=7 STRING: ENSP00000371888
    MTORP423451, 2, 3, ENSP000003545584EBI-1567928,EBI-359260 MINT-7556099 MINT-7222801 MINT-7556024 MINT-8088311 MINT-8150419 I2D: score=12 STRING: ENSP00000354558
    MAPKAP1Q9BPZ72, 3, ENSP000002659604MINT-7556024 MINT-8150419 I2D: score=1 STRING: ENSP00000265960
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

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


    RPTOR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RPTOR for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RPTOR
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about RPTOR 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Additional cDNA 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 

    24/165 AceView cDNA sequences (see all 165):

    BM718442 BU187764 AB082951 AI028378 BM474228 BM809091 BM556894 CR608664 
    AA629126 BM455531 BM854064 CA310481 BC073898 BC064515 BM680224 BM914430 
    CF272460 BM725017 BU153684 BM981742 CA426914 AI479004 AI933619 BP365193 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RPTOR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RPTOR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RPTOR

    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

        SABiosciences Expression via Pathway-Focused PCR Array including RPTOR: 
              mTOR Signaling in human mouse rat

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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RPTOR gene from 10/32 species (see all 32)    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_426232.3  XP_426232.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    95(a)
    91(a)
    many → 1
    many → 1
    2(99854456-100048351)
    2(99753322-99804756)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.120672 Transcribed sequence with weak similarity to protein more 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_001919253.1  XP_001919288.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta raptor1 CG4320-PA 54.33(n)
    50.12(a)
      31543  NM_132066.1  NP_572294.1 
    worm
    (Caenorhabditis elegans)
    Secernentea daf-156
    abnormal DAuer Formation family member (daf-15)
    23(a)
    1 ↔ 1
    IV(9386191-9394905)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KOG1(YHR186C)4
    KOG11
    Subunit of TORC1, a rapamycin-sensitive complex involved more4
    Kog1p1
    45.04(n)1
    39.68(a)1
      8(480672-475999)4
    8565931, 4  NP_012056.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RAPTOR11 regulatory associated protein of mTOR 50.29(n)
    46.49(a)
      820032  NM_111719.2  NP_566335.1 
    rice
    (Oryza sativa)
    Liliopsida Os.37402 Oryza sativa (japonica cultivar-group) mRNA for dsRNA-binding more 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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/9242 NCBI SNPs in RPTOR are shown (see all 9242    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs728551681,2
    --73953166(+) GCCTCA/GTTTTA 2 -- us2k10--------
    rs571196191,2
    C--73953200(+) TATTT-/ATTT  
            
    TTGAG
    2 -- us2k11Minor allele frequency- ATTT:0.00NA 2
    rs116537121,2
    H--73953303(+) cctcaA/Gcctcc 2 -- us2k10--------
    rs98906271,2
    C,--73953396(+) gccagG/Tctggt 2 -- us2k12Minor allele frequency- T:0.00NA 4
    rs766380101,2
    F,--73953522(+) TCTATA/GCATTG 2 -- us2k11Minor allele frequency- G:0.07WA 118
    rs784178691,2
    C,F,--73953571(+) CACAAG/AAGGCT 2 -- us2k11Minor allele frequency- A:0.05WA 118
    rs1122208041,2
    C,--73953833(+) CAGTGA/GCACGA 2 -- us2k10--------
    rs80757101,2
    C,F,H,--73955006(+) CCCCTC/TGCAGC 2 -- ut51 ese312Minor allele frequency- T:0.23NS EA WA NA CSA 1311
    rs1181858921,2
    C,F,--73955258(+) TTTAAG/AGCTGG 2 -- ut512Minor allele frequency- A:0.01NA EU 711
    rs99078691,2
    C,F,H,--73956053(+) ACTTGG/CAAACA 2 -- int18Minor allele frequency- C:0.15NS EA NA WA 542

    HapMap Linkage Disequilibrium report for RPTOR (78518619 - 78768619 bp, first 250kb of RPTOR)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 43 variations for RPTOR
         15/16 CNVs (see all 16): 73071 73068 102559 73072 77756 88646 73067 77753 88651 73069 23533 102557 73056 73059 88650
         15/27 Indels (see all 27): 77760 25940 25949 77761 88653 60249 102558 88652 25943 77759 88655 25942 45608 77754 77757

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RPTOR
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    (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.)
    About This Section

    RPTOR for disorders           About GeneDecksing

    OMIM gene information: 607130    OMIM disorders: --

    9 diseases for RPTOR:    About MalaCards
    lens subluxation    cytomegalovirus infection    moyamoya disease    psoriatic arthritis
    tuberous sclerosis    arthritis    prostate cancer    prostatitis
    hepatitis

    1 disease from the University of Copenhagen DISEASES database for RPTOR:
    Lens subluxation
    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)
    About This Section

    PubMed articles for RPTOR gene, integrated from 9 sources (see all 118):
    (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. (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. (2000)
    3. Regulation of mTOR complex 1 (mTORC1) by raptor Ser86 3 and multisite phosphorylation. (PubMed id 19864431)1, 2, 9 Foster K.G....Fingar D.C. (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. (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. (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. (2002)
    7. Osmotic stress regulates mammalian target of rapamycin (mTOR) complex 1 via c-Jun N-terminal Kinase (JNK)-mediated Raptor protein phos phorylation. (PubMed id 22493283)1, 2 Kwak D....Ryu S.H. (2012)
    8. Nutrient-dependent mTORC1 association with the ULK1-Atg13-FIP200 complex required for autophagy. (PubMed id 19211835)1, 2 Hosokawa N....Mizushima N. (2009)
    9. AMPK phosphorylation of raptor mediates a metabolic checkpoint. (PubMed id 18439900)1, 2 Gwinn D.M....Shaw R.J. (2008)
    10. PRAS40 is an insulin-regulated inhibitor of the mTORC1 protein kinase. (PubMed id 17386266)1, 2 Sancak Y....Sabatini D.M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 57521 HGNC: 30287 AceView: raptor Ensembl:ENSG00000141564 euGenes: HUgn57521
    ECgene: RPTOR Kegg: 57521 H-InvDB: RPTOR

    (According to HUGE)
    About This Section
    HUGE: KIAA1303

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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