C-CBL (Py674) (CBL) Antibody – Rabbit Polyclonal

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]

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

Chromosomal Location of Human Ortholog: 11q23.3

Cellular Component: cytoplasm; plasma membrane; flotillin complex; cytosol; nucleus

Molecular Function: protein binding; signal transducer activity; ephrin receptor binding; zinc ion binding; phosphotyrosine binding; ubiquitin-protein ligase activity; calcium ion binding; transcription factor activity; SH3 domain binding; ligase activity

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

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