RPTOR (regulatory associated protein of MTOR complex 1)

2010-12-01  

Identity

HGNC
RPTOR
LOCATION
17q25.3
LOCUSID
57521
ALIAS
KOG1,Mip1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57521
MIM: 607130
HGNC: 30287
Ensembl: ENSG00000141564

Variants:

dbSNP: 57521
ClinVar: 57521
TCGA: ENSG00000141564
COSMIC: RPTOR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141564ENST00000306801Q8N122
ENSG00000141564ENST00000544334Q8N122
ENSG00000141564ENST00000570891Q8N122
ENSG00000141564ENST00000574767I3L2I3
ENSG00000141564ENST00000576366I3L436

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Autophagy - animalKEGGko04140
mTOR signaling pathwayKEGGko04150
Insulin signaling pathwayKEGGko04910
Autophagy - animalKEGGhsa04140
mTOR signaling pathwayKEGGhsa04150
Insulin signaling pathwayKEGGhsa04910
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
MicroRNAs in cancerKEGGhsa05206
MicroRNAs in cancerKEGGko05206
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Signal TransductionREACTOMER-HSA-162582
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor signalling cascadeREACTOMER-HSA-74751
IRS-mediated signallingREACTOMER-HSA-112399
PI3K CascadeREACTOMER-HSA-109704
PKB-mediated eventsREACTOMER-HSA-109703
mTOR signallingREACTOMER-HSA-165159
mTORC1-mediated signallingREACTOMER-HSA-166208
Energy dependent regulation of mTOR by LKB1-AMPKREACTOMER-HSA-380972
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)REACTOMER-HSA-2404192
IGF1R signaling cascadeREACTOMER-HSA-2428924
IRS-related events triggered by IGF1RREACTOMER-HSA-2428928
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
Cellular responses to stressREACTOMER-HSA-2262752
Cellular response to heat stressREACTOMER-HSA-3371556
HSF1-dependent transactivationREACTOMER-HSA-3371571
MacroautophagyREACTOMER-HSA-1632852
Longevity regulating pathwayKEGGhsa04211
Longevity regulating pathway - multiple speciesKEGGko04213
Longevity regulating pathway - multiple speciesKEGGhsa04213
Autophagy - otherKEGGko04136
Autophagy - otherKEGGhsa04136

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164746311everolimusChemicalClinicalAnnotation, VariantAnnotationassociatedPD
PA166123026progression-free survivalDiseaseClinicalAnnotation, VariantAnnotationassociatedPD
PA166124223pneumonitisDiseaseClinicalAnnotation, VariantAnnotationassociatedPD
PA443560Breast NeoplasmsDiseaseVariantAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
380101092024MALAT1 DEREPRESSES MIR-433-3P-MEDIATED RPTOR SUPPRESSION TO IMPAIR AUTOPHAGY AND DRIVE PYROPTOSIS IN ENDOTOXEMIA.0
384972302024Role of Raptor Gene Variants in Hypertension: Influence on Blood Pressure Independent of Salt Intake in White Population.0
380101092024MALAT1 DEREPRESSES MIR-433-3P-MEDIATED RPTOR SUPPRESSION TO IMPAIR AUTOPHAGY AND DRIVE PYROPTOSIS IN ENDOTOXEMIA.0
384972302024Role of Raptor Gene Variants in Hypertension: Influence on Blood Pressure Independent of Salt Intake in White Population.0
361925812023RBM3 interacts with Raptor to regulate autophagy and protect cardiomyocytes from ischemia-reperfusion-induced injury.3
374937352023Association of PI3K/AKT/mTOR pathway autophagy-related gene polymorphisms with pulmonary tuberculosis susceptibility in a Chinese population.0
377495582023Raptor mediates the selective inhibitory effect of cardamonin on RRAGC-mutant B cell lymphoma.0
361925812023RBM3 interacts with Raptor to regulate autophagy and protect cardiomyocytes from ischemia-reperfusion-induced injury.3
374937352023Association of PI3K/AKT/mTOR pathway autophagy-related gene polymorphisms with pulmonary tuberculosis susceptibility in a Chinese population.0
377495582023Raptor mediates the selective inhibitory effect of cardamonin on RRAGC-mutant B cell lymphoma.0
347671532022RPTOR methylation in the peripheral blood and breast cancer in the Chinese population.3
347671532022RPTOR methylation in the peripheral blood and breast cancer in the Chinese population.3
325760512021The Association between the Plasma Sugar and Lipid Profile with the Gene Expression of the Regulatory Protein of mTOR (Raptor) in Patients with Rheumatoid Arthritis.2
334827652021Raptor and rictor expression in patients with human papillomavirus-related oropharyngeal squamous cell carcinoma.9
338528922021The dynamic mechanism of 4E-BP1 recognition and phosphorylation by mTORC1.20

Citation

Dessen P

RPTOR (regulatory associated protein of MTOR complex 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-12-01

Online version: http://atlasgeneticsoncology.org/gene/51833/rptor-(regulatory-associated-protein-of-mtor-complex-1)