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)
- Gene summary:
- No gene (2)
- CBL (4)
- EXO1 (1)
- LINC01135 (4)
- MCAM (2)
- MIEF1 (2)
No gene
CBL
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
EXO1
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
- Saccharomyces cerevisiae
- EXO1
- Saccharomyces cerevisiae
- DIN7
In other databases
LINC01135
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
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
In other databases
- CellAge
- This gene is present as MCAM
MIEF1
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