c-CBL Antibody – Mouse Monoclonal

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: an adapter protein that functions as a negative regulator of many signaling pathways that start from receptors at the cell surface. 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 PDGFA, EGF and CSF1, and terminates signaling. Participates in signal transduction in hematopoietic cells.

Protein type: Adaptor/scaffold; EC 6.3.2.-; EC 6.3.2.19; Ligase; Motility/polarity/chemotaxis; Oncoprotein; Ubiquitin conjugating system; Ubiquitin ligase

Chromosomal Location of Human Ortholog: 11q23.3

Cellular Component: cell-cell adherens junction; cytoplasm; cytosol; flotillin complex; lipid raft; plasma membrane

Molecular Function: ephrin receptor binding; protein binding; receptor tyrosine kinase binding; SH3 domain binding; transcription factor activity; ubiquitin-protein ligase activity

Biological Process: cell surface receptor linked signal transduction; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; negative regulation of apoptosis; negative regulation of epidermal growth factor receptor activity; negative regulation of epidermal growth factor receptor signaling pathway; positive regulation of epidermal growth factor receptor signaling pathway; positive regulation of phosphoinositide 3-kinase cascade; positive regulation of receptor-mediated endocytosis; protein ubiquitination; protein ubiquitination during ubiquitin-dependent protein catabolic process; transforming growth factor beta receptor signaling pathway

Disease: Juvenile Myelomonocytic Leukemia; Noonan Syndrome-like Disorder With Or Without Juvenile Myelomonocytic Leukemia