LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
American of Japanese origin
Study Design
Nested case-control design was used in 213 longevity phenotype subjects (80-93 y, 85.6±3.1) and 402 controls (71-79 y, 74.6±2.1) to identify the association between genetic variation in insulin/IGF-1 signaling genes and longevity
Conclusions
No association was found between genetic variation in any of the tested genes and longevity in American men of Japanese ancestry

Variants (15)

No gene

1.
Identifier
rs6519194
Cytogenetic Location
2.
Identifier
rs10811661
In Other Studies (IDs)
856
Cytogenetic Location

CBL

1.
Identifier
rs6589722
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser
2.
Identifier
rs12786104
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser
3.
Identifier
rs11217184
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser
4.
Identifier
rs2511837
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser

Gene details

HGNC symbol
CBL
Aliases
CBL2; NSLL; C-CBL; RNF55; FRA11B 
Common name
Cbl proto-oncogene 
Description
This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]
Other longevity studies of this gene
3
OMIM
165360
Ensembl
ENSG00000110395
UniProt/Swiss-Prot
CBL_HUMAN
Entrez Gene
867
UniGene
504096
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
cbl
Drosophila melanogaster
Cbl
Mus musculus
Cbl
Rattus norvegicus
Cbl

EXO1

1.
Identifier
rs1776180
In Other Studies (IDs)
468
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser

Gene details

HGNC symbol
EXO1
Aliases
HEX1; hExoI 
Common name
exonuclease 1 
Description
This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
20
OMIM
606063
Ensembl
ENSG00000174371
UniProt/Swiss-Prot
A8K5H6_HUMAN
Entrez Gene
9156
UniGene
498248
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
exo-1
Danio rerio
exo1
Drosophila melanogaster
tos
Mus musculus
Exo1
Rattus norvegicus
Exo1

LINC01135

1.
Identifier
rs2999131
Cytogenetic Location
1p32.1
UCSC Genome Browser
View 1p32.1 on the UCSC genome browser
2.
Identifier
rs1815274
Cytogenetic Location
1p32.1
UCSC Genome Browser
View 1p32.1 on the UCSC genome browser
3.
Identifier
rs17356414
Cytogenetic Location
1p32.1
UCSC Genome Browser
View 1p32.1 on the UCSC genome browser
4.
Identifier
rs1853432
Cytogenetic Location
1p32.1
UCSC Genome Browser
View 1p32.1 on the UCSC genome browser

Gene details

HGNC symbol
LINC01135
Aliases
 
Common name
long intergenic non-protein coding RNA 1135 
Description
Other longevity studies of this gene
3
OMIM
Ensembl
ENSG00000234807
UniProt/Swiss-Prot
Entrez Gene
100131060
UniGene
680604
HapMap
View on HapMap

Homologs in model organisms

No homologs found

MCAM

1.
Identifier
rs2249466
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser
2.
Identifier
rs7914
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser

Gene details

HGNC symbol
MCAM
Aliases
CD146; MUC18 
Common name
melanoma cell adhesion molecule 
Description
Other longevity studies of this gene
1
OMIM
155735
Ensembl
ENSG00000076706
UniProt/Swiss-Prot
A0A024R3I5_HUMAN
Entrez Gene
4162
UniGene
599039
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
mcamb
Mus musculus
Mcam
Rattus norvegicus
Mcam

MIEF1

1.
Identifier
rs1048310
Cytogenetic Location
22q13.1
UCSC Genome Browser
View 22q13.1 on the UCSC genome browser
2.
Identifier
rs738288
Cytogenetic Location
22q13.1
UCSC Genome Browser
View 22q13.1 on the UCSC genome browser

Gene details

HGNC symbol
MIEF1
Aliases
MID51; SMCR7L; HSU79252; dJ1104E15.3 
Common name
mitochondrial elongation factor 1 
Description
Other longevity studies of this gene
1
OMIM
615497
Ensembl
ENSG00000100335
UniProt/Swiss-Prot
A0A024R1L3_HUMAN
Entrez Gene
54471
UniGene
728085
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
smcr7l
Mus musculus
Smcr7l
Rattus norvegicus
Smcr7l

References

Morris et al. (2014)

Other variants which are also part of this study