Gene info: ID 57521

Gene: RPTOR

GENE ID: 57521

Synonyms: KOG1|Mip1

Description: regulatory associated protein of MTOR complex 1

Gene type: protein-coding

Location: 17q25.3

dbXrefs: Ensembl:ENSG00000141564 MIM:607130 Vega:OTTHUMG00000177622 UniprotKB:Q8N122

RefSeq: NG_013034.1

Retrived from: PubMed|SNP Mapped

SNPs: 3 ANCO-SNPs

Phenotype: ND

# Publications: 1

Sherlock p-value : NA (AD) NA (ND) (Frontal_Cortex)

Pascal p-value : 6.277e-1 (AD) 3.573e-1 (ND)

ANCO-SNPs

SNP ID	Position	Alleles	Trait	Variation Type
rs11653325	chr17:80936829 (GRCh38.p7)	T>C	nicotine dependence	SNV(Single Nucleotide Variation)
rs868432	chr17:80903935 (GRCh38.p7)	G>A	nicotine dependence	SNV(Single Nucleotide Variation)
rs908241	chr17:80861878 (GRCh38.p7)	G>A / G>T	nicotine dependence	SNV(Single Nucleotide Variation)

DNA Methylation

Probe	Locus(GRCh37)	Gene	Region	p-val	Trait	PubMed ID
cg06872548	chr17:78716983	RPTOR	Gene body	5.675e-4	Alcohol use disorders	26763658
cg18780100	chr17:78682785	RPTOR		4.410e-9	Maternal smoking in pregnancy	27040690
cg18780100	chr17:78682785	RPTOR		1.690e-8	Maternal smoking in pregnancy	27040690
cg15228441	chr17:78829930	RPTOR		3.800e-20	Smoking	27651444
cg18780100	chr17:78682785	RPTOR		5.300e-15	Smoking	27651444
cg01561259	chr17:78560781	RPTOR		5.400e-11	Smoking	27651444
cg01498832	chr17:78682934	RPTOR		6.600e-9	Smoking	27651444
cg13549638	chr17:78860076	RPTOR		9.700e-10	Alcohol consumption per day	27843151
cg25512107	chr17:78831167	RPTOR		1.760e-8	Smoking	28686328

Gene Expression in Different Tissues

Temporal and Spatial Expressions (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
CLUH	0.941
LRRC14	0.938
CARM1	0.936
ZNF142	0.925
GRIK5	0.922
DBN1	0.921
MAPK8IP3	0.92
AP2A2	0.919
ATG9A	0.918
CABIN1	0.917

Top 10 negatively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
OR4F5	-0.597
OR4F29	-0.536
TFPI2	-0.442
CD48	-0.393
C9orf153	-0.391
PABPC4L	-0.388
IL18RAP	-0.377
KCNJ15	-0.376
BST1	-0.376
KLRB1	-0.374

There is no DrugBank record for this gene !

ID	Drug Name	Action	PubMed
C029728	4-phenylenediamine	4-phenylenediamine results in decreased expression of RPTOR protein	26784575
C516138	(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine	"(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine inhibits the reaction [[resveratrol results in increased abundance of Calcium] which results in increased activity of RPTOR protein modified form]"	23680031
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of RPTOR mRNA	22100608
D001151	Arsenic	Arsenic affects the methylation of RPTOR gene	25304211
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of RPTOR mRNA	21632981\|2231617
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	"7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of RPTOR mRNA"	26238291
C072553	benzyloxycarbonylleucyl-leucyl-leucine aldehyde	benzyloxycarbonylleucyl-leucyl-leucine aldehyde results in increased expression of RPTOR protein	25897075
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of RPTOR mRNA	28628672
C006780	bisphenol A	bisphenol A affects the expression of RPTOR mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of RPTOR gene	28505145
C018475	butyraldehyde	butyraldehyde results in decreased expression of RPTOR mRNA	26079696
D002118	Calcium	"(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine inhibits the reaction [[resveratrol results in increased abundance of Calcium] which results in increased activity of RPTOR protein modified form]"	23680031
D002118	Calcium	[resveratrol results in increased abundance of Calcium] which results in increased activity of RPTOR protein modified form	23680031
D002246	Carbon Disulfide	Carbon Disulfide results in increased expression of RPTOR protein	27530093
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of RPTOR mRNA	19549813
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of RPTOR mRNA	28628672
D003958	Diamide	Diamide inhibits the reaction [MTOR protein binds to RPTOR protein]	16183647
D003958	Diamide	RPTOR mutant form inhibits the reaction [Diamide results in increased phosphorylation of RPS6KB1 protein]	16183647
D002945	Cisplatin	Cisplatin results in decreased expression of RPTOR mRNA	27392435\|2759478
C000944	dicrotophos	dicrotophos results in increased expression of RPTOR mRNA	28302478
D004112	Dimercaprol	Dimercaprol inhibits the reaction [oxophenylarsine inhibits the reaction [MTOR protein binds to RPTOR protein]]	16183647
C045651	epigallocatechin gallate	epigallocatechin gallate results in increased expression of RPTOR mRNA	22079256
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of RPTOR mRNA	22079256
D000431	Ethanol	Ethanol results in increased phosphorylation of RPTOR protein	23448468
D000431	Ethanol	PRKAA2 protein affects the reaction [Ethanol results in increased phosphorylation of RPTOR protein]	23448468
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of RPTOR intron	27776689
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of RPTOR mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of RPTOR mRNA	28628672
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of RPTOR mRNA	23086925
D008044	Linuron	Linuron results in decreased expression of RPTOR mRNA	28705778
C482199	lipopolysaccharide, E coli O55-B5	"lipopolysaccharide, E coli O55-B5 results in decreased expression of RPTOR mRNA"	24972896
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of RPTOR mRNA	23103053
C005273	naringenin	naringenin results in increased expression of RPTOR mRNA	27838343
C005273	naringenin	naringenin results in increased expression of RPTOR protein	27838343
D009538	Nicotine	RPTOR gene SNP affects the susceptibility to Nicotine	18438686
C025589	ochratoxin A	ochratoxin A results in decreased methylation of RPTOR gene	26431795
D009963	Orotic Acid	Orotic Acid inhibits the reaction [STK11 protein results in increased phosphorylation of RPTOR protein]	22863860
D009963	Orotic Acid	Orotic Acid results in decreased phosphorylation of RPTOR protein	22863860
D009963	Orotic Acid	Sirolimus inhibits the reaction [Orotic Acid results in decreased phosphorylation of RPTOR protein]	22863860
C029341	oxophenylarsine	Dimercaprol inhibits the reaction [oxophenylarsine inhibits the reaction [MTOR protein binds to RPTOR protein]]	16183647
C029341	oxophenylarsine	oxophenylarsine inhibits the reaction [MTOR protein binds to RPTOR protein]	16183647
C029341	oxophenylarsine	RPTOR mutant form inhibits the reaction [oxophenylarsine results in increased phosphorylation of RPS6KB1 protein]	16183647
C539933	pevonedistat	pevonedistat results in increased expression of RPTOR protein	25897075
C060836	pioglitazone	pioglitazone results in increased phosphorylation of RPTOR protein	26643070
C060836	pioglitazone	PRKAA1 protein affects the reaction [pioglitazone results in increased phosphorylation of RPTOR protein]	26643070
C006253	pirinixic acid	pirinixic acid results in decreased expression of RPTOR mRNA	20813756
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of RPTOR mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of RPTOR mRNA	22079256
D011374	Progesterone	Progesterone results in decreased expression of RPTOR mRNA	23541542
C059514	resveratrol	"(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine inhibits the reaction [[resveratrol results in increased abundance of Calcium] which results in increased activity of RPTOR protein modified form]"	23680031
C059514	resveratrol	[resveratrol results in increased abundance of Calcium] which results in increased activity of RPTOR protein modified form	23680031
C059514	resveratrol	resveratrol results in increased phosphorylation of RPTOR protein	23680031
D020123	Sirolimus	RPTOR protein inhibits the reaction [Sirolimus results in increased activity of AR protein]	18776922
D020123	Sirolimus	[Sirolimus inhibits the reaction [MTOR protein binds to RPTOR protein]] which results in increased expression of MAP1LC3A protein alternative form	21742779
D020123	Sirolimus	Sirolimus inhibits the reaction [Orotic Acid results in decreased phosphorylation of RPTOR protein]	22863860
D020123	Sirolimus	Sirolimus results in decreased activity of [MTOR protein binds to RPTOR protein]	18776922
D020123	Sirolimus	Sirolimus results in decreased activity of [MTOR protein binds to RPTOR protein binds to MLST8 protein]	19505958
D020123	Sirolimus	[Sirolimus results in decreased activity of [MTOR protein binds to RPTOR protein]] which results in increased activity of AR protein	18776922
D020123	Sirolimus	Sirolimus inhibits the reaction [MTOR protein binds to RPTOR protein]	21742779
D018038	Sodium Selenite	Sodium Selenite results in increased expression of RPTOR mRNA	18175754
D000952	Antigens, Polyomavirus Transforming	"Antigens, Polyomavirus Transforming results in decreased expression of RPTOR mRNA"	26680231
D014635	Valproic Acid	Valproic Acid results in increased methylation of RPTOR gene	28853863\|2915479
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of RPTOR gene	25560391
D024483	Vitamin K 3	Vitamin K 3 affects the expression of RPTOR mRNA	20044591
C088658	zoledronic acid	zoledronic acid results in decreased expression of RPTOR mRNA	20977926
C088658	zoledronic acid	zoledronic acid results in decreased expression of RPTOR protein	28871336

GO/Pathway

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0001030	RNA polymerase III type 1 promoter DNA binding	-	IDA	20233713
GO:0001031	RNA polymerase III type 2 promoter DNA binding	-	IDA	20233713
GO:0001032	RNA polymerase III type 3 promoter DNA binding	-	IDA	20233713
GO:0001156	TFIIIC-class transcription factor binding	-	IDA	20543138
GO:0005515	protein binding	-	IPI	12150925 12150926 12408816 17386266 17461779 17565979 18337751 18955708 19446321 19619545 19875983 20347422 20543138 20562859 21045808 21339740 21471201 21614075 22424946 23027611 23263282 23953116 24036451 24375676 25446900 25561175 25567906 25657994 25686248 25940091 26678875 26787466 27043084
GO:0019901	protein kinase binding	-	IPI	18439900
GO:0030291	protein serine/threonine kinase inhibitor activity	-	IDA	12718876
GO:0030295	protein kinase activator activity	-	IDA	12150926
GO:0030674	protein binding, bridging	-	IBA	21873635
GO:0030674	protein binding, bridging	-	IDA	12150926
GO:0044877	protein-containing complex binding	-	IPI	19211835
GO:0071889	14-3-3 protein binding	-	IDA	18439900

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0001558	regulation of cell growth	-	IMP	20381137
GO:0001938	positive regulation of endothelial cell proliferation	-	IEA	-
GO:0007050	cell cycle arrest	-	TAS	-
GO:0008361	regulation of cell size	-	IBA	21873635
GO:0008361	regulation of cell size	-	IMP	12150925
GO:0009267	cellular response to starvation	-	IBA	21873635
GO:0010506	regulation of autophagy	-	IBA	21873635
GO:0010800	positive regulation of peptidyl-threonine phosphorylation	-	IMP	18426977
GO:0016241	regulation of macroautophagy	-	TAS	-
GO:0030307	positive regulation of cell growth	-	IBA	21873635
GO:0030307	positive regulation of cell growth	-	IMP	18426977
GO:0031669	cellular response to nutrient levels	-	IMP	12150925
GO:0031929	TOR signaling	-	IBA	21873635
GO:0031929	TOR signaling	-	IDA	20381137
GO:0032008	positive regulation of TOR signaling	-	IDA	12150926 18439900
GO:0032147	activation of protein kinase activity	-	IEA	-
GO:0033138	positive regulation of peptidyl-serine phosphorylation	-	IMP	18426977
GO:0038202	TORC1 signaling	-	IMP	12718876
GO:0045945	positive regulation of transcription by RNA polymerase III	-	IMP	20233713
GO:0071230	cellular response to amino acid stimulus	-	IBA	21873635
GO:0071230	cellular response to amino acid stimulus	-	IMP	20381137
GO:0071233	cellular response to leucine	-	IDA	22424946
GO:0071901	negative regulation of protein serine/threonine kinase activity	-	IEA	-
GO:0071902	positive regulation of protein serine/threonine kinase activity	-	IBA	21873635
GO:0071902	positive regulation of protein serine/threonine kinase activity	-	IDA	12150926
GO:1900034	regulation of cellular response to heat	-	TAS	-
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	-	IMP	18426977

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0005654	nucleoplasm	-	IDA	-
GO:0005654	nucleoplasm	-	TAS	-
GO:0005737	cytoplasm	-	IBA	21873635
GO:0005737	cytoplasm	-	IDA	20381137
GO:0005764	lysosome	-	IDA	20381137
GO:0005764	lysosome	-	IMP	22424946
GO:0005765	lysosomal membrane	-	HDA	17897319
GO:0005829	cytosol	-	IDA	-
GO:0005829	cytosol	-	TAS	-
GO:0010494	cytoplasmic stress granule	-	IDA	25940091
GO:0030425	dendrite	-	IEA	-
GO:0031931	TORC1 complex	-	IBA	21873635
GO:0031931	TORC1 complex	-	IDA	12150926 12718876 15467718 24036451 25940091
GO:0043025	neuronal cell body	-	IEA	-

KEGG ID	KEGG Term
hsa04150	mTOR signaling pathway
hsa04910	Insulin signaling pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1257604	PIP3 activates AKT signaling	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-1632852	Macroautophagy	TAS
R-HSA-165159	mTOR signalling	TAS
R-HSA-166208	mTORC1-mediated signalling	TAS
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-2262752	Cellular responses to stress	TAS
R-HSA-3371556	Cellular response to heat stress	TAS
R-HSA-3371571	HSF1-dependent transactivation	TAS
R-HSA-3700989	Transcriptional Regulation by TP53	TAS
R-HSA-380972	Energy dependent regulation of mTOR by LKB1-AMPK	TAS
R-HSA-5628897	TP53 Regulates Metabolic Genes	TAS
R-HSA-6807070	PTEN Regulation	TAS
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-8943724	Regulation of PTEN gene transcription	TAS
R-HSA-8953897	Cellular responses to external stimuli	TAS
R-HSA-9006925	Intracellular signaling by second messengers	TAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID	Title (Year)	Author	Journal
24005976	Common variants of ZNF750, RPTOR and TRAF3IP2 genes and psoriasis risk. (2014 Apr)	Debniak T	Arch Dermatol Res