| Gene Symbol |
CBL
|
| Gene Synonyms |
CBL2 NSLL C-CBL RNF55 FRA11B CBL |
| Gene Full Name |
E3 ubiquitin-protein ligase CBL |
| Gene Summary |
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] |
| Alternative Names |
4732447J05Rik C CBL Cas Br M (murine) ecotropic retroviral transforming sequence Casitas B lineage lymphoma proto oncogene Casitas B-lineage lymphoma proto-oncogene CBL 2 cbl CBL_HUMAN CBL2 E3 ubiquitin protein ligase CBL E3 ubiquitin-protein ligase CBL Oncogene CBL2 Proto oncogene c CBL Proto-oncogene c-CBL RGD1561386 RING finger protein 55 RNF55 Signal transduction protein CBL
|
| Molecular Weight(MW) |
100kDa |
| Cellular Localization |
Cytoplasm. Cell membrane. Cell projection, cilium. Golgi apparatus. Note=Colocalizes with FGFR2 in lipid rafts at the cell membrane. |