Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57521
Gene name Gene Name - the full gene name approved by the HGNC.
Regulatory associated protein of MTOR complex 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RPTOR
Synonyms (NCBI Gene) Gene synonyms aliases
KOG1, Mip1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT050023 hsa-miR-27a-3p CLASH 23622248
MIRT046186 hsa-miR-27b-3p CLASH 23622248
MIRT1319074 hsa-miR-1225-3p CLIP-seq
MIRT1319075 hsa-miR-125a-5p CLIP-seq
MIRT1319076 hsa-miR-125b CLIP-seq
Transcription factors
Transcription factor Regulation Reference
POU2F1 Unknown 21060808
RARA Unknown 21060808
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001002 Function RNA polymerase III type 1 promoter sequence-specific DNA binding IDA 20233713
GO:0001003 Function RNA polymerase III type 2 promoter sequence-specific DNA binding IDA 20233713
GO:0001006 Function RNA polymerase III type 3 promoter sequence-specific DNA binding IDA 20233713
GO:0001156 Function TFIIIC-class transcription factor complex binding IDA 20543138
GO:0001558 Process Regulation of cell growth IMP 20381137
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607130 30287 ENSG00000141564
Protein
UniProt ID Q8N122
Protein name Regulatory-associated protein of mTOR (Raptor) (p150 target of rapamycin (TOR)-scaffold protein)
Protein function Component of the mechanistic target of rapamycin complex 1 (mTORC1), an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:
PDB 5H64 , 6BCU , 6BCX , 6SB0 , 6SB2 , 6U62 , 7OWG , 7PEA , 7PEB , 7PEC , 7UX2 , 7UXC , 7UXH , 8ERA , 8RCH , 8RCK , 8RCN , 9F42 , 9F43 , 9F44 , 9F45
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14538 Raptor_N 55 206 Raptor N-terminal CASPase like domain Domain
PF02985 HEAT 602 630 HEAT repeat Repeat
PF00400 WD40 1156 1194 WD domain, G-beta repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Highly expressed in skeletal muscle, and in a lesser extent in brain, lung, small intestine, kidney and placenta. {ECO:0000269|PubMed:12150925, ECO:0000269|PubMed:12408816}.; TISSUE SPECIFICITY: [Isoform 3]: Widely expressed, with high
Sequence
MESEMLQSPLLGLGEEDEADLTDWNLPLAFMKKRHCEKIEGSKSLAQSWRMKDRMKTVSV
ALVLCLNVGVDPPDVVKTTPCARLECWIDPLSMGPQKALETIGANLQKQYENWQPRARYK
QSLDPTVDEVKKLCTSLRRNAKEERVLFHYNGHGVPRPTVNGEVWVFNKNYTQYIPLSIY
DLQTWMGSPSIFVYDCSNAGLIVKSF
KQFALQREQELEVAAINPNHPLAQMPLPPSMKNC
IQLAACEATELLPMIPDLPADLFTSCLTTPIKIALRWFCMQKCVSLVPGVTLDLIEKIPG
RLNDRRTPLGELNWIFTAITDTIAWNVLPRDLFQKLFRQDLLVASLFRNFLLAERIMRSY
NCTPVSSPRLPPTYMHAMWQAWDLAVDICLSQLPTIIEEGTAFRHSPFFAEQLTAFQVWL
TMGVENRNPPEQLPIVLQVLLSQVHRLRALDLLGRFLDLGPWAVSLALSVGIFPYVLKLL
QSSARELRPLLVFIWAKILAVDSSCQADLVKDNGHKYFLSVLADPYMPAEHRTMTAFILA
VIVNSYHTGQEACLQGNLIAICLEQLNDPHPLLRQWVAICLGRIWQNFDSARWCGVRDSA
HEKLYSLLSDPIPEVRCAAVFALGTFVGNSAERTDHSTTIDHNVAMMLAQLVSDGSPMVR
KELVVALSHLVVQYESNFCTVALQFIEEEKNYALPSPATTEGGSLTPVRDSPCTPRLRSV
SSYGNIRAVATARSLNKSLQNLSLTEESGGAVAFSPGNLSTSSSASSTLGSPENEEHILS
FETIDKMRRASSYSSLNSLIGVSFNSVYTQIWRVLLHLAADPYPEVSDVAMKVLNSIAYK
ATVNARPQRVLDTSSLTQSAPASPTNKGVHIHQAGGSPPASSTSSSSLTNDVAKQPVSRD
LPSGRPGTTGPAGAQYTPHSHQFPRTRKMFDKGPEQTADDADDAAGHKSFISATVQTGFC
DWSARYFAQPVMKIPEEHDLESQIRKEREWRFLRNSRVRRQAQQVIQKGITRLDDQIFLN
RNPGVPSVVKFHPFTPCIAVADKDSICFWDWEKGEKLDYFHNGNPRYTRVTAMEYLNGQD
CSLLLTATDDGAIRVWKNFADLEKNPEMVTAWQGLSDMLPTTRGAGMVVDWEQETGLLMS
SGDVRIVRIWDTDREMKVQDIPTGADSCVTSLSCDSHRSLIVAGLGDGSIRVYDRRMALS
ECRVMTYREHTAWVVKASLQKRPDGHIVSVSVNGDVRIFDPRMPESVNVLQIVKGLTALD
IHPQADLIACGSVNQFTAIYNSSGELINNIKYYDGFMGQRVGAISCLAFHPHWPHLAVGS
NDYYISVYSVEKRVR
Sequence length 1335
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Autophagy - other
Autophagy - animal
mTOR signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Longevity regulating pathway
Longevity regulating pathway - multiple species
Thermogenesis
Insulin signaling pathway
Shigellosis
MicroRNAs in cancer
  Macroautophagy
mTOR signalling
mTORC1-mediated signalling
HSF1-dependent transactivation
Energy dependent regulation of mTOR by LKB1-AMPK
TP53 Regulates Metabolic Genes
Regulation of PTEN gene transcription
Amino acids regulate mTORC1
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hypertension Hypertensive disease rs13306026 30487518
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Moyamoya disease Moyamoya Disease, Moyamoya disease 1 rs121434527, rs121434528, rs387906592, rs397514563, rs797045187, rs1555675538, rs1568149971, rs1599150380, rs2079443410 29273593
Obesity Obesity rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562
View all (27 more)
23563607
Unknown
Disease term Disease name Evidence References Source
Schizophrenia Schizophrenia GWAS
Moyamoya Disease Moyamoya Disease GWAS
Bipolar Disorder Bipolar Disorder GWAS
Gout Gout GWAS
Associations from Text Mining
Disease Name Relationship Type References
beta Thalassemia Associate 25849663
Breast Neoplasms Associate 27305912, 27314662, 27577081, 29128895
Breast Neoplasms Inhibit 27314662
Carcinogenesis Associate 27314662
Carcinoma Hepatocellular Associate 24312415
Carcinoma Renal Cell Associate 35927303
Colonic Neoplasms Associate 29882195
Colorectal Neoplasms Associate 21430067, 32000660, 34311674
Cystic Fibrosis Associate 27284727
Death Associate 20530239