RPTOR (regulatory associated protein of MTOR complex 1)

2010-12-01 Affiliation

Identity

HGNC

RPTOR

LOCATION

17q25.3

LOCUSID

57521

ALIAS

KOG1,Mip1

FUSION GENES

Show Gene Fusions

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

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000141564	ENST00000306801	Q8N122
ENSG00000141564	ENST00000544334	Q8N122
ENSG00000141564	ENST00000570891	Q8N122
ENSG00000141564	ENST00000574767	I3L2I3
ENSG00000141564	ENST00000576366	I3L436

Expression (GTEx)

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

Pathway	Source	External ID
Autophagy - animal	KEGG	ko04140
mTOR signaling pathway	KEGG	ko04150
Insulin signaling pathway	KEGG	ko04910
Autophagy - animal	KEGG	hsa04140
mTOR signaling pathway	KEGG	hsa04150
Insulin signaling pathway	KEGG	hsa04910
PI3K-Akt signaling pathway	KEGG	hsa04151
PI3K-Akt signaling pathway	KEGG	ko04151
MicroRNAs in cancer	KEGG	hsa05206
MicroRNAs in cancer	KEGG	ko05206
AMPK signaling pathway	KEGG	hsa04152
AMPK signaling pathway	KEGG	ko04152
Signal Transduction	REACTOME	R-HSA-162582
Signaling by Insulin receptor	REACTOME	R-HSA-74752
Insulin receptor signalling cascade	REACTOME	R-HSA-74751
IRS-mediated signalling	REACTOME	R-HSA-112399
PI3K Cascade	REACTOME	R-HSA-109704
PKB-mediated events	REACTOME	R-HSA-109703
mTOR signalling	REACTOME	R-HSA-165159
mTORC1-mediated signalling	REACTOME	R-HSA-166208
Energy dependent regulation of mTOR by LKB1-AMPK	REACTOME	R-HSA-380972
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	REACTOME	R-HSA-2404192
IGF1R signaling cascade	REACTOME	R-HSA-2428924
IRS-related events triggered by IGF1R	REACTOME	R-HSA-2428928
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
TP53 Regulates Metabolic Genes	REACTOME	R-HSA-5628897
Cellular responses to stress	REACTOME	R-HSA-2262752
Cellular response to heat stress	REACTOME	R-HSA-3371556
HSF1-dependent transactivation	REACTOME	R-HSA-3371571
Macroautophagy	REACTOME	R-HSA-1632852
Longevity regulating pathway	KEGG	hsa04211
Longevity regulating pathway - multiple species	KEGG	ko04213
Longevity regulating pathway - multiple species	KEGG	hsa04213
Autophagy - other	KEGG	ko04136
Autophagy - other	KEGG	hsa04136

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PD
PA164746311	everolimus	Chemical	ClinicalAnnotation, VariantAnnotation	associated	PD
PA166123026	progression-free survival	Disease	ClinicalAnnotation, VariantAnnotation	associated	PD
PA166124223	pneumonitis	Disease	ClinicalAnnotation, VariantAnnotation	associated	PD
PA443560	Breast Neoplasms	Disease	VariantAnnotation	associated	PD

References

Pubmed ID	Year	Title	Citations
18439900	2008	AMPK phosphorylation of raptor mediates a metabolic checkpoint.	1236
12150925	2002	mTOR interacts with raptor to form a nutrient-sensitive complex that signals to the cell growth machinery.	1043
18497260	2008	The Rag GTPases bind raptor and mediate amino acid signaling to mTORC1.	982
12150926	2002	Raptor, a binding partner of target of rapamycin (TOR), mediates TOR action.	615
23563607	2013	Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.	229
12604610	2003	The mammalian target of rapamycin (mTOR) partner, raptor, binds the mTOR substrates p70 S6 kinase and 4E-BP1 through their TOR signaling (TOS) motif.	208
16354680	2006	Nutrients suppress phosphatidylinositol 3-kinase/Akt signaling via raptor-dependent mTOR-mediated insulin receptor substrate 1 phosphorylation.	146
18722121	2008	Oncogenic MAPK signaling stimulates mTORC1 activity by promoting RSK-mediated raptor phosphorylation.	138
16183647	2005	Redox regulation of the nutrient-sensitive raptor-mTOR pathway and complex.	101
21071439	2011	ERK1/2 phosphorylate Raptor to promote Ras-dependent activation of mTOR complex 1 (mTORC1).	90

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