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	RPTOR
Symbol Alias	KOG1, Mip1, KIAA1303, raptor
Approved Name	regulatory associated protein of MTOR, complex 1
Name Alias	regulatory associated protein of mTOR
Location	17q25.3
Position	chr17:80544819-80966371, 1
External Links	HGNC: 30287 Entrez Gene: 57521 Ensembl: ENSG00000141564 UCSC: uc002jyt.1
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Bergen, S. E.,2012	SNP: rs11150863	No significant association was observed in BD.	Negative	Comment on Study
Rajkumar, A. P., 2014	SNP: rs7218584, rs11150746, rs3923310	After Bonferroni correction, and that the association between RPTOR and BD was borderline significant.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 30)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005764	lysosome	cellular component	IDA[20381137]	16

GO terms by database search (count: 29)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005765	lysosomal membrane	cellular component	IDA[17897319]	14
GO:0031931	TORC1 complex	cellular component	IDA[15467718]	2
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0032008	positive regulation of TOR signaling	biological process	IDA[12150926]	4
GO:0001032	RNA polymerase III type 3 promoter DNA binding	molecular function	IDA[20233713]	2
GO:0001938	positive regulation of endothelial cell proliferation	biological process	IEA	11
GO:0031929	TOR signaling	biological process	IDA[20381137]	3
GO:0005829	cytosol	cellular component	TAS	223
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA	34
GO:0071902	positive regulation of protein serine/threonine kinase activity	biological process	IDA[12150926]	1
GO:0071889	14-3-3 protein binding	molecular function	IDA[18439900]	7
GO:0030425	dendrite	cellular component	IEA	65
GO:0045945	positive regulation of transcription from RNA polymerase III promoter	biological process	IMP[20233713]	2
GO:0001156	TFIIIC-class transcription factor binding	molecular function	IDA[20543138]	2
GO:0034605	cellular response to heat	biological process	TAS	11
GO:0016049	cell growth	biological process	IMP[20381137]	7
GO:0005515	protein binding	molecular function	IPI[12150925]	563
GO:0008286	insulin receptor signaling pathway	biological process	TAS	15
GO:0008361	regulation of cell size	biological process	IMP[12150925]	2
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0071230	cellular response to amino acid stimulus	biological process	IMP[20381137]	6
GO:0001031	RNA polymerase III type 2 promoter DNA binding	molecular function	IDA[20233713]	2
GO:0019901	protein kinase binding	molecular function	IPI[18439900]	29
GO:1900034	regulation of cellular response to heat	biological process	TAS	10
GO:0001030	RNA polymerase III type 1 promoter DNA binding	molecular function	IDA[20233713]	2
GO:0032403	protein complex binding	molecular function	IPI[19211835]	16
GO:0007050	cell cycle arrest	biological process	TAS	10
GO:0031669	cellular response to nutrient levels	biological process	IMP[12150925]	2
GO:0043025	neuronal cell body	cellular component	IEA	50

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 7)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
RPTOR	RHEB	NO	in vitro;in vivo	16631613
RPTOR	IRS1	NO	in vitro	16354680
RPTOR	MTOR	YES	in vitro;in vivo	12150925 , 16354680 , 1683716516603397 , 12150926 , 15066126
RPTOR	EIF4EBP1	NO	in vitro;in vivo	12912989 , 16824195 , 12747827 , 12150926 , 12604610
RPTOR	MLST8	NO	in vivo	12718876
RPTOR	RPS6KB1	NO	in vitro	12150926 , 12604610 , 16183647
RPTOR	PLD2	NO	in vitro	16837165

Related other genetic factors

Gene related SNPs (count: 34)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs11150746	chr17:80787589 - 80787589(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(1/0/0)
rs3923310	chr17:80540653 - 80540653(1)	upstream_gene_variant	1(1/0/0)
rs11150863	chr17:80558521 - 80558521(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)
rs7218584	chr17:80555394 - 80555394(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(1/0/0)

LD-proxies (count: 30)

rs_ID	Location	Functional Annotation
rs6565469	chr17:80643639 - 80643639(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs12603265	chr17:80644837 - 80644837(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7501740	chr17:80636545 - 80636545(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs8072592	chr17:80641561 - 80641561(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs9897453	chr17:80660500 - 80660500(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs9896771	chr17:80730099 - 80730099(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs12946972	chr17:80645122 - 80645122(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4889872	chr17:80647506 - 80647506(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs9911978	chr17:80550607 - 80550607(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs3923514	chr17:80541410 - 80541410(1)	upstream_gene_variant
rs4890039	chr17:80544083 - 80544083(1)	downstream_gene_variant; upstream_gene_variant
rs4890040	chr17:80544608 - 80544608(1)	downstream_gene_variant; upstream_gene_variant
rs4890043	chr17:80553031 - 80553031(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs11651818	chr17:80556500 - 80556500(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4297763	chr17:80559826 - 80559826(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4278795	chr17:80559389 - 80559389(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs8080678	chr17:80570203 - 80570203(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4508465	chr17:80569568 - 80569568(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4889863	chr17:80576668 - 80576668(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4890047	chr17:80575639 - 80575639(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4303599	chr17:80592900 - 80592900(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4890052	chr17:80590445 - 80590445(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2315927	chr17:80605098 - 80605098(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs4889865	chr17:80594647 - 80594647(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4890057	chr17:80617879 - 80617879(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4477776	chr17:80607965 - 80607965(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7220588	chr17:80624431 - 80624431(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs7209279	chr17:80624255 - 80624255(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs8082303	chr17:80631212 - 80631212(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs9914854	chr17:80624862 - 80624862(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
17q25	chr17:72900000-83257441	1 (0/0/1)
17q11-25	chr17:25100000-83257441	1 (1/0/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

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

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 2)

Reference	Description	Result Category
22688191	No significant association was observed in SZ.	Negative
25053281	Associations between 23 RPTOR SNPs and SZ were nominally significant (p<0.05).	Positive

Overlap with SZ from candidate gene intersection analysis (count: 0)

Gene relationship with MDD

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Region: chr17:80544819..80966371 View in gBrowse