LongevityMap Gene
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]
- Cytogenetic Location
- 11q23.3
- UCSC Genome Browser
- View 11q23.3 on the UCSC genome browser
- OMIM
- 165360
- Ensembl
- ENSG00000110395
- UniProt/Swiss-Prot
- CBL_HUMAN
- Entrez Gene
- 867
- UniGene
- 504096
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- sli-1
- Danio rerio
- cbl
- Drosophila melanogaster
- Cbl
- Mus musculus
- Cbl
- Rattus norvegicus
- Cbl
Studies (1)
Significant/Non-significant: 0/1
- 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
- Indentifier
- rs6589722
- Reference