CBL
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:165360 Ensembl IDEnsembl:ENSG00000110395 HGNC IDHGNC:HGNC:1541 PHARMGKB IDPA26115 Map Location11q23.3 |
GO terms in CBL
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IEA | GO:0001784 | phosphotyrosine residue binding |
MF | TAS | GO:0003700 | DNA-binding transcription factor activity |
MF | TAS | GO:0004842 | ubiquitin-protein transferase activity |
MF | IEA | GO:0005154 | epidermal growth factor receptor binding |
MF | IEA | GO:0005509 | calcium ion binding |
MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: CBL
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CBL
Database | Pathway ID | Pathway Des. |
---|---|---|
wikipathways | WP2018 | RANKL-RANK (Receptor activator of NFKB (ligand)) Signaling Pathway |
wikipathways | WP2037 | Prolactin Signaling Pathway |
wikipathways | WP2261 | Signaling Pathways in Glioblastoma |
wikipathways | WP23 | B Cell Receptor Signaling Pathway |
wikipathways | WP2512 | Integrated Lung Cancer Pathway |
wikipathways | WP2593 | JAK-STAT |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in CBL
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
---|---|---|---|---|---|---|---|---|
No matching records found |