Atlas of Genetics and Cytogenetics in Oncology and Haematology

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RPTOR (regulatory associated protein of MTOR complex 1)

Identity

Alias_namesregulatory associated protein of MTOR
Alias_symbol (synonym)KOG1
Mip1
KIAA1303
raptor
Other alias
HGNC (Hugo) RPTOR
LocusID (NCBI) 57521
Atlas_Id 51833
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 80544825 and ends at 80966373 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MLANA (9p24.1) / RPTOR (17q25.3)RPTOR (17q25.3) / ANKFN1 (17q22)RPTOR (17q25.3) / FLNA (Xq28)
RPTOR (17q25.3) / GAA (17q25.3)RPTOR (17q25.3) / IQCH (15q23)RPTOR (17q25.3) / RNF213 (17q25.3)
RPTOR (17q25.3) / RPTOR (17q25.3)RPTOR (17q25.3) / STXBP4 (17q22)RPTOR (17q25.3) / TMEM105 (17q25.3)
SDF2 (17q11.2) / RPTOR (17q25.3)TBCD (17q25.3) / RPTOR (17q25.3)RPTOR 17q25.3 / ANKFN1 17q22
RPTOR 17q25.3 / GAA 17q25.3RPTOR 17q25.3 / IQCH 15q23RPTOR 17q25.3 / RNF213 17q25.3
RPTOR 17q25.3 / STXBP4 17q22RPTOR 17q25.3 / TMEM105 17q25.3SDF2 17q11.2 / RPTOR 17q25.3
TBCD 17q25.3 / RPTOR 17q25.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 8 ]
  t(15;17)(q23;q25) RPTOR/IQCH
t(17;17)(q11;q25) SDF2/RPTOR
t(17;17)(q22;q25) RPTOR/ANKFN1
t(17;17)(q22;q25) RPTOR/STXBP4
RPTOR/GAA (17q25)
RPTOR/RNF213 (17q25)
RPTOR/TMEM105 (17q25)
TBCD/RPTOR (17q25)

External links

Nomenclature
HGNC (Hugo)RPTOR   30287
Cards
Entrez_Gene (NCBI)RPTOR  57521  regulatory associated protein of MTOR complex 1
AliasesKOG1; Mip1
GeneCards (Weizmann)RPTOR
Ensembl hg19 (Hinxton)ENSG00000141564 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141564 [Gene_View]  ENSG00000141564 [Sequence]  chr17:80544825-80966373 [Contig_View]  RPTOR [Vega]
ICGC DataPortalENSG00000141564
TCGA cBioPortalRPTOR
AceView (NCBI)RPTOR
Genatlas (Paris)RPTOR
WikiGenes57521
SOURCE (Princeton)RPTOR
Genetics Home Reference (NIH)RPTOR
Genomic and cartography
GoldenPath hg38 (UCSC)RPTOR  -     chr17:80544825-80966373 +  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RPTOR  -     17q25.3   [Description]    (hg19-Feb_2009)
EnsemblRPTOR - 17q25.3 [CytoView hg19]  RPTOR - 17q25.3 [CytoView hg38]
Mapping of homologs : NCBIRPTOR [Mapview hg19]  RPTOR [Mapview hg38]
OMIM607130   
Gene and transcription
Genbank (Entrez)AB037724 AB082951 AI821182 AK055912 AK295964
RefSeq transcript (Entrez)NM_001163034 NM_020761
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RPTOR
Cluster EST : UnigeneHs.133044 [ NCBI ]
CGAP (NCI)Hs.133044
Alternative Splicing GalleryENSG00000141564
Gene ExpressionRPTOR [ NCBI-GEO ]   RPTOR [ EBI - ARRAY_EXPRESS ]   RPTOR [ SEEK ]   RPTOR [ MEM ]
Gene Expression Viewer (FireBrowse)RPTOR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57521
GTEX Portal (Tissue expression)RPTOR
Human Protein AtlasENSG00000141564-RPTOR [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N122   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N122  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N122
Splice isoforms : SwissVarQ8N122
PhosPhoSitePlusQ8N122
Domaine pattern : Prosite (Expaxy)WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    HEAT    Raptor    Raptor_N    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)HEAT (PF02985)    Raptor_N (PF14538)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam02985    pfam14538    pfam00400   
Domain families : Smart (EMBL)Raptor_N (SM01302)  WD40 (SM00320)  
Conserved Domain (NCBI)RPTOR
DMDM Disease mutations57521
Blocks (Seattle)RPTOR
PDB (SRS)5H64    6BCU    6BCX   
PDB (PDBSum)5H64    6BCU    6BCX   
PDB (IMB)5H64    6BCU    6BCX   
PDB (RSDB)5H64    6BCU    6BCX   
Structural Biology KnowledgeBase5H64    6BCU    6BCX   
SCOP (Structural Classification of Proteins)5H64    6BCU    6BCX   
CATH (Classification of proteins structures)5H64    6BCU    6BCX   
SuperfamilyQ8N122
Human Protein Atlas [tissue]ENSG00000141564-RPTOR [tissue]
Peptide AtlasQ8N122
HPRD06184
IPIIPI00166044   IPI01014562   IPI00410411   
Protein Interaction databases
DIP (DOE-UCLA)Q8N122
IntAct (EBI)Q8N122
FunCoupENSG00000141564
BioGRIDRPTOR
STRING (EMBL)RPTOR
ZODIACRPTOR
Ontologies - Pathways
QuickGOQ8N122
Ontology : AmiGORNA polymerase III type 1 promoter DNA binding  RNA polymerase III type 2 promoter DNA binding  RNA polymerase III type 3 promoter DNA binding  TFIIIC-class transcription factor complex binding  regulation of cell growth  positive regulation of endothelial cell proliferation  protein binding  nucleoplasm  nucleoplasm  cytoplasm  cytoplasm  lysosome  lysosome  lysosomal membrane  cytosol  cytosol  cell cycle arrest  regulation of cell size  regulation of cell size  cellular response to starvation  cytoplasmic stress granule  positive regulation of peptidyl-threonine phosphorylation  regulation of macroautophagy  protein kinase binding  protein serine/threonine kinase inhibitor activity  protein kinase activator activity  positive regulation of cell growth  positive regulation of cell growth  dendrite  protein binding, bridging  protein binding, bridging  cellular response to nutrient levels  TOR signaling  TOR signaling  TORC1 complex  TORC1 complex  positive regulation of TOR signaling  activation of protein kinase activity  positive regulation of peptidyl-serine phosphorylation  TORC1 signaling  neuronal cell body  protein-containing complex binding  positive regulation of transcription by RNA polymerase III  cellular response to amino acid stimulus  cellular response to amino acid stimulus  cellular response to leucine  14-3-3 protein binding  negative regulation of protein serine/threonine kinase activity  positive regulation of protein serine/threonine kinase activity  positive regulation of protein serine/threonine kinase activity  regulation of cellular response to heat  positive regulation of G1/S transition of mitotic cell cycle  
Ontology : EGO-EBIRNA polymerase III type 1 promoter DNA binding  RNA polymerase III type 2 promoter DNA binding  RNA polymerase III type 3 promoter DNA binding  TFIIIC-class transcription factor complex binding  regulation of cell growth  positive regulation of endothelial cell proliferation  protein binding  nucleoplasm  nucleoplasm  cytoplasm  cytoplasm  lysosome  lysosome  lysosomal membrane  cytosol  cytosol  cell cycle arrest  regulation of cell size  regulation of cell size  cellular response to starvation  cytoplasmic stress granule  positive regulation of peptidyl-threonine phosphorylation  regulation of macroautophagy  protein kinase binding  protein serine/threonine kinase inhibitor activity  protein kinase activator activity  positive regulation of cell growth  positive regulation of cell growth  dendrite  protein binding, bridging  protein binding, bridging  cellular response to nutrient levels  TOR signaling  TOR signaling  TORC1 complex  TORC1 complex  positive regulation of TOR signaling  activation of protein kinase activity  positive regulation of peptidyl-serine phosphorylation  TORC1 signaling  neuronal cell body  protein-containing complex binding  positive regulation of transcription by RNA polymerase III  cellular response to amino acid stimulus  cellular response to amino acid stimulus  cellular response to leucine  14-3-3 protein binding  negative regulation of protein serine/threonine kinase activity  positive regulation of protein serine/threonine kinase activity  positive regulation of protein serine/threonine kinase activity  regulation of cellular response to heat  positive regulation of G1/S transition of mitotic cell cycle  
Pathways : KEGGmTOR signaling pathway    PI3K-Akt signaling pathway    Insulin signaling pathway    MicroRNAs in cancer   
NDEx NetworkRPTOR
Atlas of Cancer Signalling NetworkRPTOR
Wikipedia pathwaysRPTOR
Orthology - Evolution
OrthoDB57521
GeneTree (enSembl)ENSG00000141564
Phylogenetic Trees/Animal Genes : TreeFamRPTOR
HOVERGENQ8N122
HOGENOMQ8N122
Homologs : HomoloGeneRPTOR
Homology/Alignments : Family Browser (UCSC)RPTOR
Gene fusions - Rearrangements
Fusion : MitelmanRPTOR/ANKFN1 [17q25.3/17q22]  
Fusion : MitelmanRPTOR/GAA [17q25.3/17q25.3]  [t(17;17)(q25;q25)]  
Fusion : MitelmanRPTOR/IQCH [17q25.3/15q23]  [t(15;17)(q23;q25)]  
Fusion : MitelmanRPTOR/RNF213 [17q25.3/17q25.3]  [t(17;17)(q25;q25)]  
Fusion : MitelmanRPTOR/STXBP4 [17q25.3/17q22]  [t(17;17)(q22;q25)]  
Fusion : MitelmanRPTOR/TMEM105 [17q25.3/17q25.3]  [t(17;17)(q25;q25)]  
Fusion : MitelmanSDF2/RPTOR [17q11.2/17q25.3]  [t(17;17)(q11;q25)]  
Fusion : MitelmanTBCD/RPTOR [17q25.3/17q25.3]  [t(17;17)(q25;q25)]  
Fusion PortalRPTOR 17q25.3 ANKFN1 17q22 BRCA
Fusion PortalRPTOR 17q25.3 GAA 17q25.3 PRAD
Fusion PortalRPTOR 17q25.3 IQCH 15q23 PRAD
Fusion PortalRPTOR 17q25.3 RNF213 17q25.3 BRCA
Fusion PortalRPTOR 17q25.3 STXBP4 17q22 LUSC
Fusion PortalRPTOR 17q25.3 TMEM105 17q25.3 PRAD
Fusion PortalSDF2 17q11.2 RPTOR 17q25.3 BRCA
Fusion PortalTBCD 17q25.3 RPTOR 17q25.3 LUAD
Fusion : QuiverRPTOR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPTOR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPTOR
dbVarRPTOR
ClinVarRPTOR
1000_GenomesRPTOR 
Exome Variant ServerRPTOR
ExAC (Exome Aggregation Consortium)ENSG00000141564
GNOMAD BrowserENSG00000141564
Varsome BrowserRPTOR
Genetic variants : HAPMAP57521
Genomic Variants (DGV)RPTOR [DGVbeta]
DECIPHERRPTOR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRPTOR 
Mutations
ICGC Data PortalRPTOR 
TCGA Data PortalRPTOR 
Broad Tumor PortalRPTOR
OASIS PortalRPTOR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRPTOR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRPTOR
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RPTOR
DgiDB (Drug Gene Interaction Database)RPTOR
DoCM (Curated mutations)RPTOR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RPTOR (select a term)
intoGenRPTOR
Cancer3DRPTOR(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607130   
Orphanet
DisGeNETRPTOR
MedgenRPTOR
Genetic Testing Registry RPTOR
NextProtQ8N122 [Medical]
TSGene57521
GENETestsRPTOR
Target ValidationRPTOR
Huge Navigator RPTOR [HugePedia]
snp3D : Map Gene to Disease57521
BioCentury BCIQRPTOR
ClinGenRPTOR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57521
Chemical/Pharm GKB GenePA165432629
Clinical trialRPTOR
Miscellaneous
canSAR (ICR)RPTOR (select the gene name)
Probes
Litterature
PubMed174 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRPTOR
EVEXRPTOR
GoPubMedRPTOR
iHOPRPTOR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:36:41 CET 2018
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