Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	MTOR
Previous Symbol	FRAP, FRAP2, FRAP1
Symbol Alias	RAFT1, RAPT1, FLJ44809
Approved Name	mechanistic target of rapamycin (serine/threonine kinase)
Previous Name	FK506 binding protein 12-rapamycin associated protein 1
Name Alias	FK506 binding protein 12-rapamycin associated protein 2, "rapamycin target protein", "FKBP12-rapamycin complex-associated protein 1", "FKBP-rapamycin associated protein", "rapamycin associated protein FRAP2", "dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)", "rapamycin and FKBP12 target 1", "mammalian target of rapamycin"
Location	1p36
Position	chr1:11106535-11262507, -1
External Links	HGNC: 3942 Entrez Gene: 2475 Ensembl: ENSG00000198793 UCSC: uc001asd.3
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Cruceanu, C., 2013	Other variant: MTOR_Chr1:11194520_C/T	Rare variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 84)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IBA	283
GO:0016020	membrane	cellular component	IDA[11853878]	137
GO:0019904	protein domain specific binding	molecular function	IEA	24
GO:0045087	innate immune response	biological process	TAS	49
GO:0005764	lysosome	cellular component	IDA[20381137]	16
GO:0004674	protein serine/threonine kinase activity	molecular function	EXP; IDA[15467718]; TAS	27

GO terms by database search (count: 78)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005765	lysosomal membrane	cellular component	IDA[17897319]	14
GO:0031295	T cell costimulation	biological process	TAS	6
GO:0010507	negative regulation of autophagy	biological process	ISS	3
GO:0030163	protein catabolic process	biological process	TAS[11853878]	5
GO:0034605	cellular response to heat	biological process	TAS	11
GO:0016242	negative regulation of macroautophagy	biological process	IEA	1
GO:0045945	positive regulation of transcription from RNA polymerase III promoter	biological process	IMP[20233713]	2
GO:0016301	kinase activity	molecular function	IDA[15467718]; TAS[11853878]	7
GO:0045859	regulation of protein kinase activity	biological process	IEA	2
GO:0012505	endomembrane system	cellular component	IDA[18497260]	9
GO:0006950	response to stress	biological process	IMP[17028174]	5
GO:0051219	phosphoprotein binding	molecular function	IPI[11853878]	3
GO:0043025	neuronal cell body	cellular component	IEA	50
GO:0031641	regulation of myelination	biological process	IEA	4
GO:1903147	negative regulation of mitochondrion degradation	biological process	NAS[23728790]	1
GO:0005979	regulation of glycogen biosynthetic process	biological process	IEA	2
GO:0007584	response to nutrient	biological process	NAS[15539461]	10
GO:0030425	dendrite	cellular component	IEA	65
GO:0010831	positive regulation of myotube differentiation	biological process	IEA	2
GO:0005789	endoplasmic reticulum membrane	cellular component	IEA	52
GO:0031932	TORC2 complex	cellular component	IDA[15467718]	2
GO:0007165	signal transduction	biological process	NAS[15539461]	136
GO:0001032	RNA polymerase III type 3 promoter DNA binding	molecular function	IDA[20233713]	2
GO:0031669	cellular response to nutrient levels	biological process	ISS	2
GO:0018107	peptidyl-threonine phosphorylation	biological process	IEA	3
GO:0046983	protein dimerization activity	molecular function	IBA	19
GO:0008286	insulin receptor signaling pathway	biological process	TAS	15
GO:0001938	positive regulation of endothelial cell proliferation	biological process	IEA	11
GO:0051534	negative regulation of NFAT protein import into nucleus	biological process	IEA	2
GO:0005942	phosphatidylinositol 3-kinase complex	cellular component	NAS[15539461]	4
GO:0007173	epidermal growth factor receptor signaling pathway	biological process	TAS	22
GO:0045727	positive regulation of translation	biological process	IDA[18762023]	4
GO:0005741	mitochondrial outer membrane	cellular component	IEA	10
GO:0016049	cell growth	biological process	IDA[18762023]; TAS[11853878]	7
GO:0045792	negative regulation of cell size	biological process	IEA	2
GO:0045670	regulation of osteoclast differentiation	biological process	ISS	1
GO:0000139	Golgi membrane	cellular component	IEA	36
GO:0005515	protein binding	molecular function	IPI[10089303]	563
GO:0001934	positive regulation of protein phosphorylation	biological process	IDA[20233713]	15
GO:0043200	response to amino acid	biological process	IDA[18497260]	6
GO:0001031	RNA polymerase III type 2 promoter DNA binding	molecular function	IDA[20233713]	2
GO:0048015	phosphatidylinositol-mediated signaling	biological process	TAS	17
GO:0032956	regulation of actin cytoskeleton organization	biological process	IMP[15467718]	3
GO:0071456	cellular response to hypoxia	biological process	ISS	13
GO:0031931	TORC1 complex	cellular component	IDA[15467718]; IMP[20537536]	2
GO:0005737	cytoplasm	cellular component	IDA[11853878]	322
GO:0007281	germ cell development	biological process	IEA	5
GO:0038095	Fc-epsilon receptor signaling pathway	biological process	TAS	19
GO:0016605	PML body	cellular component	ISS	7
GO:0031529	ruffle organization	biological process	IEA	3
GO:0005829	cytosol	cellular component	TAS	223
GO:0032095	regulation of response to food	biological process	IEA	1
GO:0043022	ribosome binding	molecular function	IEA	2
GO:0018105	peptidyl-serine phosphorylation	biological process	IMP[20537536]	11
GO:0001156	TFIIIC-class transcription factor binding	molecular function	IDA[20543138]	2
GO:0008543	fibroblast growth factor receptor signaling pathway	biological process	TAS	21
GO:0046889	positive regulation of lipid biosynthetic process	biological process	IMP[18762023]	5
GO:0008144	drug binding	molecular function	IEA	21
GO:0031929	TOR signaling	biological process	IMP[15467718]	3
GO:0031998	regulation of fatty acid beta-oxidation	biological process	IEA	1
GO:0051897	positive regulation of protein kinase B signaling	biological process	IEA	11
GO:0040007	growth	biological process	NAS[15539461]	4
GO:1900034	regulation of cellular response to heat	biological process	TAS	10
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	biological process	IEA	12
GO:0016310	phosphorylation	biological process	IDA[11853878]	9
GO:0005524	ATP binding	molecular function	IEA	118
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33
GO:0048010	vascular endothelial growth factor receptor signaling pathway	biological process	TAS	12
GO:0043610	regulation of carbohydrate utilization	biological process	IEA	1
GO:0051496	positive regulation of stress fiber assembly	biological process	IEA	3
GO:0010592	positive regulation of lamellipodium assembly	biological process	IEA	2
GO:0001030	RNA polymerase III type 1 promoter DNA binding	molecular function	IDA[20233713]	2
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0046777	protein autophosphorylation	biological process	IDA[15467718]	16
GO:0030838	positive regulation of actin filament polymerization	biological process	IEA	6
GO:0000724	double-strand break repair via homologous recombination	biological process	IBA	9
GO:0010628	positive regulation of gene expression	biological process	IMP[17028174]	23
GO:0006468	protein phosphorylation	biological process	IDA[15467718]; IMP[17028174]	42

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 22)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
MTOR	RPS6KB2	NO	in vitro	11733037
MTOR	EIF4EBP1	NO	in vitro;in vivo	11438723 , 9405468 , 8083223 , 9092573 , 11777913 , 11691836 , 10942774 , 12105188 , 10364159 , 9465032 , 12665511 , 10779345
MTOR	TERT	NO	in vivo	15843522
MTOR	MLST8	NO	in vivo	12718876 , 15066126
MTOR	RICTOR	NO	in vitro;in vivo	15718470 , 16603397 , 16221682
MTOR	PLD2	NO	in vitro	16837165
MTOR	STAT3	NO	in vitro	15522880
MTOR	FKBP1A	NO	in vitro	8662507 , 10089303
MTOR	PRKAA1	NO	in vitro	14970221
MTOR	GPHN	NO	in vitro;in vivo;yeast 2-hybrid	10325225
MTOR	RPS6KB1	NO	in vitro;in vivo	11914378 , 11279232 , 12604610
MTOR	RHEB	NO	in vitro;in vivo	15854902 , 16631613 , 16098514 , 15878852
MTOR	UBQLN1	NO	in vitro;in vivo;yeast 2-hybrid	11853878
MTOR	PDPK1	NO	in vitro	11438723
MTOR	RHEBL1	YES	in vivo	16098514
MTOR	AKT1	YES	in vitro	11438723 , 10910062
MTOR	EIF3F	NO	in vitro;yeast 2-hybrid	16541103
MTOR	CLIP1	YES	in vivo	12231510
MTOR	IRS1	NO	in vitro	11287630
MTOR	YWHAQ	YES	in vitro;in vivo	10664457
MTOR	RPS6KA1	NO	in vitro	15905173
MTOR	AKT1S1	NO	in vivo	17277771

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
MTOR_Chr1:11194520_C/T	Splicing	Chr1:11194520	1 (0/0/1)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
1p35-p36	chr1:0-34300000	1 (1/0/0)
1p33-p36	chr1:0-50200000	1 (0/0/1)
1p36.22	chr1:9100000-12500000	1 (0/0/1)
1p36	chr1:0-27600000	1 (0/1/0)
Chr 1	chr1:0-248956422	2 (0/2/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr1:11106535..11262507 View in gBrowse