LongevityMap Gene

Gene details

HGNC symbol
RPTOR 
Aliases
KOG1; Mip1 
Common name
regulatory associated protein of MTOR complex 1 
Description
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-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
OMIM
607130
Ensembl
ENSG00000141564
UniProt/Swiss-Prot
Q6DKI0_HUMAN
Entrez Gene
57521
UniGene
133044
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
daf-15
Danio rerio
rptor
Drosophila melanogaster
raptor
Mus musculus
Rptor
Rattus norvegicus
Rptor
Saccharomyces cerevisiae
KOG1
Schizosaccharomyces pombe
mip1

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as daf-15

Studies (3)

Significant/Non-significant: 1/2

Study 1

Longevity Association
Significant
Population
Dutch
Study Design
1,018 SNPs within a 10-kb window around 40 mTOR signalling genes were studied for differences in variation between 417 unrelated nonagenarian participants and 476 younger controls
Conclusions
As a whole, there was a significant association of genetic variation in the mTOR pathway and familial longevity, though no individual gene was significant after correcting for multiple hypothesis testing
Indentifier
RPTOR
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    Italian (Southern)
    Study Design
    A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
    Conclusions
    After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
    Indentifier
    rs12949279
    Reference

      Study 3

      Longevity Association
      Non-significant
      Population
      American of Japanese origin
      Study Design
      81 tagSNPs that provided virtually complete coverage of key mTOR genes complex genes MTOR, RPTOR, and RICTOR, as well as RPS6KA1, were tested in 814 males (440 aged 95 years and older, 374 controls) for association with longevity and health span phenotypes.
      Conclusions
      No association was found between genotypes and longevity or aging-related biologic, clinical or functional phenoypes after mutiple test correction.
      Indentifier
      rs7225574
      Reference