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

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