• Gene id: 57521

Gene Summary

• Gene Symbol: RPTOR   Gene   UCSC   Ensembl
• Aliases: KOG1, Mip1
• Gene name: regulatory associated protein of MTOR complex 1
• Alternate names: regulatory-associated protein of mTOR, p150 target of rapamycin (TOR)-scaffold protein containing WD-repeats, raptor,
• Gene location: 17q25.3 (80544837: 80966367)     Exons: 34     NC_000017.11
• Gene summary(Entrez): This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-b
• OMIM: 612184

Protein Summary

• Protein general information: Q8N122  
  • Name: Regulatory associated protein of mTOR (Raptor) (p150 target of rapamycin (TOR) scaffold protein)
  • Length: 1335  
  • Mass: 149038
  • Tissue specificity: Highly expressed in skeletal muscle, and in a lesser extent in brain, lung, small intestine, kidney and placenta. Isoform 3 is widely expressed, with highest levels in nasal mucosa and pituitary and lowest in spleen. {ECO
• Sequence:

  MESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSVALVLCLNVGVDPPDV
  VKTTPCARLECWIDPLSMGPQKALETIGANLQKQYENWQPRARYKQSLDPTVDEVKKLCTSLRRNAKEERVLFHY
  NGHGVPRPTVNGEVWVFNKNYTQYIPLSIYDLQTWMGSPSIFVYDCSNAGLIVKSFKQFALQREQELEVAAINPN
  HPLAQMPLPPSMKNCIQLAACEATELLPMIPDLPADLFTSCLTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPG
  RLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLLVASLFRNFLLAERIMRSYNCTPVSSPRLPPTYM
  HAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWLTMGVENRNPPEQLPIVLQVLLSQVHRLRAL
  DLLGRFLDLGPWAVSLALSVGIFPYVLKLLQSSARELRPLLVFIWAKILAVDSSCQADLVKDNGHKYFLSVLADP
  YMPAEHRTMTAFILAVIVNSYHTGQEACLQGNLIAICLEQLNDPHPLLRQWVAICLGRIWQNFDSARWCGVRDSA
  HEKLYSLLSDPIPEVRCAAVFALGTFVGNSAERTDHSTTIDHNVAMMLAQLVSDGSPMVRKELVVALSHLVVQYE
  SNFCTVALQFIEEEKNYALPSPATTEGGSLTPVRDSPCTPRLRSVSSYGNIRAVATARSLNKSLQNLSLTEESGG
  AVAFSPGNLSTSSSASSTLGSPENEEHILSFETIDKMRRASSYSSLNSLIGVSFNSVYTQIWRVLLHLAADPYPE
  VSDVAMKVLNSIAYKATVNARPQRVLDTSSLTQSAPASPTNKGVHIHQAGGSPPASSTSSSSLTNDVAKQPVSRD
  LPSGRPGTTGPAGAQYTPHSHQFPRTRKMFDKGPEQTADDADDAAGHKSFISATVQTGFCDWSARYFAQPVMKIP
  EEHDLESQIRKEREWRFLRNSRVRRQAQQVIQKGITRLDDQIFLNRNPGVPSVVKFHPFTPCIAVADKDSICFWD
  WEKGEKLDYFHNGNPRYTRVTAMEYLNGQDCSLLLTATDDGAIRVWKNFADLEKNPEMVTAWQGLSDMLPTTRGA
  GMVVDWEQETGLLMSSGDVRIVRIWDTDREMKVQDIPTGADSCVTSLSCDSHRSLIVAGLGDGSIRVYDRRMALS
  ECRVMTYREHTAWVVKASLQKRPDGHIVSVSVNGDVRIFDPRMPESVNVLQIVKGLTALDIHPQADLIACGSVNQ
  FTAIYNSSGELINNIKYYDGFMGQRVGAISCLAFHPHWPHLAVGSNDYYISVYSVEKRVR

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR000357  IPR004083  IPR029347   IPR015943  IPR001680  IPR017986  IPR036322  
  • Prosite: PS50294
  • PDB: 5H64 6BCU 6BCX 6SB0 6SB2 6U62
  • PDBsum: 5H64 6BCU 6BCX 6SB0 6SB2 6U62
  • DIP: 39482
  • STRING: ENSP00000307272
• Other Databases: GeneCards:  RPTOR  Malacards:  RPTOR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IMP	biological process
GO:0010800	positive regulation of peptidyl-threonine phosphorylation	IMP	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IMP	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0009267	cellular response to starvation	IBA	biological process
GO:0030307	positive regulation of cell growth	IBA	biological process
GO:0030674	protein-macromolecule adaptor activity	IBA	molecular function
GO:0031929	TOR signaling	IBA	biological process
GO:0071902	positive regulation of protein serine/threonine kinase activity	IBA	biological process
GO:0008361	regulation of cell size	IBA	biological process
GO:0010506	regulation of autophagy	IBA	biological process
GO:0031931	TORC1 complex	IBA	cellular component
GO:0071230	cellular response to amino acid stimulus	IBA	biological process
GO:0071889	14-3-3 protein binding	IDA	molecular function
GO:0032008	positive regulation of TOR signaling	IDA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:0031931	TORC1 complex	IDA	cellular component
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0071902	positive regulation of protein serine/threonine kinase activity	IDA	biological process
GO:0031929	TOR signaling	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0071230	cellular response to amino acid stimulus	IMP	biological process
GO:0001558	regulation of cell growth	IMP	biological process
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031931	TORC1 complex	IEA	cellular component
GO:0031929	TOR signaling	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007050	cell cycle arrest	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030295	protein kinase activator activity	IDA	molecular function
GO:0030674	protein-macromolecule adaptor activity	IDA	molecular function
GO:0030291	protein serine/threonine kinase inhibitor activity	IDA	molecular function
GO:0031931	TORC1 complex	IDA	cellular component
GO:0031931	TORC1 complex	IDA	cellular component
GO:0038202	TORC1 signaling	IMP	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042325	regulation of phosphorylation	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0001938	positive regulation of endothelial cell proliferation	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0032147	activation of protein kinase activity	IEA	biological process
GO:0071901	negative regulation of protein serine/threonine kinase activity	IEA	biological process
GO:0005764	lysosome	IMP	cellular component
GO:0071233	cellular response to leucine	IDA	biological process
GO:0031931	TORC1 complex	IDA	cellular component
GO:0001003	RNA polymerase III type 2 promoter sequence-specific DNA binding	IDA	molecular function
GO:0001002	RNA polymerase III type 1 promoter sequence-specific DNA binding	IDA	molecular function
GO:0031931	TORC1 complex	IDA	cellular component
GO:0032008	positive regulation of TOR signaling	IDA	biological process
GO:0001156	TFIIIC-class transcription factor complex binding	IDA	molecular function
GO:0001006	RNA polymerase III type 3 promoter sequence-specific DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031669	cellular response to nutrient levels	IMP	biological process
GO:0045945	positive regulation of transcription by RNA polymerase III	IMP	biological process
GO:0008361	regulation of cell size	IMP	biological process
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa05206	MicroRNAs in cancer
hsa04714	Thermogenesis
hsa05131	Shigellosis
hsa04150	mTOR signaling pathway
hsa04140	Autophagy - animal
hsa04910	Insulin signaling pathway
hsa04152	AMPK signaling pathway
hsa04211	Longevity regulating pathway
hsa04213	Longevity regulating pathway - multiple species
hsa04136	Autophagy - other

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray