ADHDgene Database

Gene Report

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	chr17:78518625-78940173, +
External Links	HGNC: 30287 Entrez Gene: 57521 Ensembl: ENSG00000141564 UCSC: uc002jyt.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy

Gene related studies (count: 0)

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation
rs10938813	Chr11:115899782(Fwd); Chr11:133365486(Rev); Chr13:51323762(Rev); Chr17:78690055(Rev); Chr4:10799734(Fwd); Chr7:102445452(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005829	cytosol	Cellular Component		447
GO:0007050	cell cycle arrest	Biological Process		25
GO:0005737	cytoplasm	Cellular Component		690
GO:0005764	lysosome	Cellular Component		31
GO:0001156	TFIIIC-class transcription factor binding	Molecular Function		1
GO:0005515	protein binding	Molecular Function		910
GO:0001031	RNA polymerase III type 2 promoter DNA binding	Molecular Function		1
GO:0001032	RNA polymerase III type 3 promoter DNA binding	Molecular Function		1
GO:0031931	TORC1 complex	Cellular Component	IDA[15467718]	1
GO:0032008	positive regulation of TOR signaling cascade	Biological Process	IDA[18439900]	5
GO:0031669	cellular response to nutrient levels	Biological Process	IMP[12150925]	2
GO:0031929	TOR signaling cascade	Biological Process		3
GO:0016049	cell growth	Biological Process		11
GO:0019901	protein kinase binding	Molecular Function	IPI[18439900]	51
GO:0008286	insulin receptor signaling pathway	Biological Process		32
GO:0008361	regulation of cell size	Biological Process	IMP[12150925]	3
GO:0071902	positive regulation of protein serine/threonine kinase activity	Biological Process	IDA[12150926]	4
GO:0071889	14-3-3 protein binding	Molecular Function	IDA[18439900]	3
GO:0071230	cellular response to amino acid stimulus	Biological Process		5
GO:0045945	positive regulation of transcription from RNA polymerase III promoter	Biological Process		2
GO:0032403	protein complex binding	Molecular Function	IPI[19211835]	27
GO:0001030	RNA polymerase III type 1 promoter DNA binding	Molecular Function		1

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa04910	Insulin signaling pathway	29	Insulin binding to its receptor results in the tyrosine phos...... Insulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the regulatory subunit of phosphoinositide 3-kinase (PI3K). PI3K activates 3-phosphoinositide-dependent protein kinase 1 (PDK1), which activates Akt, a serine kinase. Akt in turn deactivates glycogen synthase kinase 3 (GSK-3), leading to activation of glycogen synthase (GYS) and thus glycogen synthesis. Activation of Akt also results in the translocation of GLUT4 vesicles from their intracellular pool to the plasma membrane, where they allow uptake of glucose into the cell. Akt also leads to mTOR-mediated activation of protein synthesis by eIF4 and p70S6K. The translocation of GLUT4 protein is also elicited through the CAP/Cbl/TC10 pathway, once Cbl is phosphorylated by INSR. More...
hsa04150	mTOR signaling pathway	13

Genes shared at least 5 GO terms with RPTOR (count: 10)

Gene Symbol	Pathway Count	Pathway List
APC	5	cytosol; cell cycle arrest; cytoplasm; protein binding; protein kinase binding;
ARRB2	5	cytosol; cytoplasm; protein binding; 14-3-3 protein binding; protein complex binding;
BCAR1	5	cytosol; cytoplasm; protein binding; protein kinase binding; insulin receptor signaling pathway;
CDK5RAP2	5	cytosol; cytoplasm; protein binding; protein kinase binding; protein complex binding;
ILK	5	cytosol; cell cycle arrest; cytoplasm; protein binding; protein kinase binding;
PRKAA1	5	cytosol; cell cycle arrest; protein binding; cellular response to nutrient levels; insulin receptor signaling pathway;
RELA	5	cytosol; cytoplasm; protein binding; protein kinase binding; protein complex binding;
TSC1	5	cytosol; cell cycle arrest; cytoplasm; protein binding; insulin receptor signaling pathway;
FLCN	5	cytoplasm; protein binding; positive regulation of TOR signaling cascade; TOR signaling cascade; protein complex binding;
LAMTOR1	5	lysosome; protein binding; positive regulation of TOR signaling cascade; cell growth; cellular response to amino acid stimulus;

Genes shared at least 2 KEGG pathways with RPTOR (count: 8)

Gene Symbol	Pathway Count	Pathway List
INS	2	Insulin signaling pathway; mTOR signaling pathway;
MAPK1	2	Insulin signaling pathway; mTOR signaling pathway;
MAPK3	2	Insulin signaling pathway; mTOR signaling pathway;
PIK3CG	2	Insulin signaling pathway; mTOR signaling pathway;
PIK3R1	2	Insulin signaling pathway; mTOR signaling pathway;
PRKAA1	2	Insulin signaling pathway; mTOR signaling pathway;
RPS6KB2	2	Insulin signaling pathway; mTOR signaling pathway;
TSC1	2	Insulin signaling pathway; mTOR signaling pathway;

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Region: chr17:78518625..78940173 View in gBrowse