LongevityMap variant group

Entry Details

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.

Variants (78)

No gene

1.
Identifier
rs4970510
Cytogenetic Location
2.
Identifier
rs11653897
Cytogenetic Location
3.
Identifier
rs12094989
Cytogenetic Location

LOC400627

1.
Identifier
rs7502124
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
2.
Identifier
rs4969322
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser

Gene details

HGNC symbol
LOC400627
Aliases
 
Common name
uncharacterized LOC400627 
Description
Other longevity studies of this gene
1
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
400627
UniGene
591201
HapMap
View on HapMap

Homologs in model organisms

No homologs found

MTOR

1.
Identifier
rs3806317
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
2.
Identifier
rs11581010
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
3.
Identifier
rs11121703
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
4.
Identifier
rs1057079
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
5.
Identifier
rs4845858
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
6.
Identifier
rs3765904
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser

Gene details

HGNC symbol
MTOR
Aliases
SKS; FRAP; FRAP1; FRAP2; RAFT1; RAPT1 
Common name
mechanistic target of rapamycin 
Description
The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008]
Other longevity studies of this gene
9
OMIM
601231
Ensembl
ENSG00000198793
UniProt/Swiss-Prot
MTOR_HUMAN
Entrez Gene
2475
UniGene
338207
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
let-363
Danio rerio
mtor
Drosophila melanogaster
Tor
Mus musculus
Mtor
Rattus norvegicus
Mtor
Saccharomyces cerevisiae
TOR2
Schizosaccharomyces pombe
tor2

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as let-363
  • A homolog of this gene for Drosophila melanogaster is present as Tor
  • A homolog of this gene for Mus musculus is present as Mtor
GenAge human genes
  • This gene is present as MTOR
GenDR gene manipulations
  • A homolog of this gene for Caenorhabditis elegans is present as let-363

RICTOR

1.
Identifier
rs12233987
Cytogenetic Location
5p13.1
UCSC Genome Browser
View 5p13.1 on the UCSC genome browser
2.
Identifier
rs17364997
Cytogenetic Location
5p13.1
UCSC Genome Browser
View 5p13.1 on the UCSC genome browser
3.
Identifier
rs10461998
Cytogenetic Location
5p13.1
UCSC Genome Browser
View 5p13.1 on the UCSC genome browser
4.
Identifier
rs6878291
Cytogenetic Location
5p13.1
UCSC Genome Browser
View 5p13.1 on the UCSC genome browser
5.
Identifier
rs1239256
Cytogenetic Location
5p13.1
UCSC Genome Browser
View 5p13.1 on the UCSC genome browser
6.
Identifier
rs7703002
Cytogenetic Location
5p13.1
UCSC Genome Browser
View 5p13.1 on the UCSC genome browser
7.
Identifier
rs10941413
Cytogenetic Location
5p13.1
UCSC Genome Browser
View 5p13.1 on the UCSC genome browser

Gene details

HGNC symbol
RICTOR
Aliases
PIA; AVO3; hAVO3 
Common name
RPTOR independent companion of MTOR complex 2 
Description
RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008]
Other longevity studies of this gene
7
OMIM
609022
Ensembl
ENSG00000164327
UniProt/Swiss-Prot
RICTR_HUMAN
Entrez Gene
253260
UniGene
407926
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
rict-1
Danio rerio
rictorb
Drosophila melanogaster
rictor
Mus musculus
Rictor
Rattus norvegicus
Rictor
Saccharomyces cerevisiae
TSC11
Schizosaccharomyces pombe
ste16

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Rictor
  • A homolog of this gene for Caenorhabditis elegans is present as rict-1
GenAge human genes
  • This gene is present as RICTOR

RPS6KA1

1.
Identifier
rs2278978
Cytogenetic Location
1p36.11
UCSC Genome Browser
View 1p36.11 on the UCSC genome browser
2.
Identifier
rs17162190
Cytogenetic Location
1p36.11
UCSC Genome Browser
View 1p36.11 on the UCSC genome browser

Gene details

HGNC symbol
RPS6KA1
Aliases
RSK; HU-1; RSK1; p90Rsk; MAPKAPK1A 
Common name
ribosomal protein S6 kinase A1 
Description
This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
601684
Ensembl
ENSG00000117676
UniProt/Swiss-Prot
KS6A1_HUMAN
Entrez Gene
6195
UniGene
149957
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
rps6ka1
Mus musculus
Rps6ka1
Rattus norvegicus
Rps6ka1

RPTOR

1.
Identifier
rs7225574
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
2.
Identifier
rs2672890
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
3.
Identifier
rs2333988
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
4.
Identifier
rs7210742
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
5.
Identifier
rs4889856
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
6.
Identifier
rs2289763
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
7.
Identifier
rs2271608
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
8.
Identifier
rs908236
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
9.
Identifier
rs4969311
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
10.
Identifier
rs2589157
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
11.
Identifier
rs3751945
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
12.
Identifier
rs2589143
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
13.
Identifier
rs4889875
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
14.
Identifier
rs2589134
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
15.
Identifier
rs2589118
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
16.
Identifier
rs4969314
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
17.
Identifier
rs9898212
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
18.
Identifier
rs11150747
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
19.
Identifier
rs8065598
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
20.
Identifier
rs868432
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
21.
Identifier
rs7220588
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
22.
Identifier
rs3751934
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
23.
Identifier
rs2672893
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
24.
Identifier
rs4969256
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
25.
Identifier
rs1468032
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
26.
Identifier
rs2589141
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
27.
Identifier
rs4969266
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
28.
Identifier
rs7217623
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
29.
Identifier
rs2289762
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
30.
Identifier
rs6565500
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
31.
Identifier
rs12938300
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
32.
Identifier
rs12601434
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
33.
Identifier
rs4890052
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
34.
Identifier
rs4969426
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
35.
Identifier
rs9895380
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
36.
Identifier
rs11150746
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
37.
Identifier
rs8069962
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
38.
Identifier
rs6565494
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
39.
Identifier
rs8064502
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
40.
Identifier
rs11150745
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
41.
Identifier
rs2292639
In Other Studies (IDs)
2280
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
42.
Identifier
rs8066867
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
43.
Identifier
rs2672901
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
44.
Identifier
rs4889782
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
45.
Identifier
rs12951778
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
46.
Identifier
rs2672886
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
47.
Identifier
rs4969301
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
48.
Identifier
rs11656061
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
49.
Identifier
rs2063785
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
50.
Identifier
rs1468035
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
51.
Identifier
rs4969227
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
52.
Identifier
rs3751932
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
53.
Identifier
rs7212127
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
54.
Identifier
rs4969282
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
55.
Identifier
rs2280146
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
56.
Identifier
rs734338
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
57.
Identifier
rs11654508
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
58.
Identifier
rs901065
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser

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]
Other longevity studies of this gene
63
OMIM
607130
Ensembl
ENSG00000141564
UniProt/Swiss-Prot
Q6DKI0_HUMAN
Entrez Gene
57521
UniGene
133044
HapMap
View on HapMap

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

References

Morris et al. (2015)

Other variants which are also part of this study