CBL Gene Sequence, Family, Fuction and Expression Information
CBL cDNA / Gene Overview
CBL cDNA / gene is a gene with protein product which located on 11q23.3. The CBL gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog. 235 organisms have orthologs with human gene CBL.
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]
CBL cDNA / Gene Sequence
X57110 3090 bp mRNA linear PRI 12-DEC-1992
Human mRNA for c-cbl proto-oncogene.
This sequence information is just for reference only.