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

CellAge

This gene is present as RPTOR

Studies (3)

Significant/Non-significant: 1/2

Study 1

Longevity Association

Population

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

Reference

Study 2

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

Study 3

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