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	YWHAQ	YES	in vitro;in vivo	10664457
MTOR	RPS6KB1	NO	in vitro;in vivo	11914378 , 11279232 , 12604610
MTOR	FKBP1A	NO	in vitro	8662507 , 10089303
MTOR	CLIP1	YES	in vivo	12231510
MTOR	STAT3	NO	in vitro	15522880
MTOR	PLD2	NO	in vitro	16837165
MTOR	GPHN	NO	in vitro;in vivo;yeast 2-hybrid	10325225
MTOR	PDPK1	NO	in vitro	11438723
MTOR	RPS6KA1	NO	in vitro	15905173
MTOR	IRS1	NO	in vitro	11287630
MTOR	TERT	NO	in vivo	15843522
MTOR	PRKAA1	NO	in vitro	14970221
MTOR	RICTOR	NO	in vitro;in vivo	15718470 , 16603397 , 16221682
MTOR	EIF3F	NO	in vitro;yeast 2-hybrid	16541103
MTOR	RHEB	NO	in vitro;in vivo	15854902 , 16631613 , 16098514 , 15878852
MTOR	RHEBL1	YES	in vivo	16098514
MTOR	AKT1	YES	in vitro	11438723 , 10910062
MTOR	MLST8	NO	in vivo	12718876 , 15066126
MTOR	UBQLN1	NO	in vitro;in vivo;yeast 2-hybrid	11853878
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	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