Aliases for CBL Gene
External Ids for CBL Gene
Previous HGNC Symbols for CBL Gene
Previous GeneCards Identifiers for CBL Gene
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. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Mar 2012]
GeneCards Summary for CBL Gene
CBL (Cbl Proto-Oncogene, E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with CBL include noonan syndrome-like disorder with juvenile myelomonocytic leukemia and noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia. Among its related pathways are Immune System and Signaling by GPCR. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and ligase activity. An important paralog of this gene is CBLB.
UniProtKB/Swiss-Prot for CBL Gene
Adapter protein that functions as a negative regulator of many signaling pathways that are triggered by activation of cell surface receptors. Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Recognizes activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, EGFR, CSF1R, EPHA8 and KDR and terminates signaling. Recognizes membrane-bound HCK, SRC and other kinases of the SRC family and mediates their ubiquitination and degradation. Participates in signal transduction in hematopoietic cells. Plays an important role in the regulation of osteoblast differentiation and apoptosis. Essential for osteoclastic bone resorption. The Tyr-731 phosphorylated form induces the activation and recruitment of phosphatidylinositol 3-kinase to the cell membrane in a signaling pathway that is critical for osteoclast function. May be functionally coupled with the E2 ubiquitin-protein ligase UB2D3.