Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | CBLB |
| Gene Name: | CBLB |
| Protein Full Name: | E3 ubiquitin-protein ligase CBL-B |
| Alias: | Cas-Br-M (murine) ecotropic retroviral transforming sequence b; Casitas B-lineage lymphoma proto-oncogene b; CBLB; RING finger protein 56; RNF56; SH3-binding protein Cbl-b; signal transduction protein Cbl-b |
| Mass (Da): | 109450 |
| Number AA: | 982 |
| UniProt ID: | Q13191 |
| Locus ID: | 868 |
| COSMIC ID: | CBLB |
| Gene location on chromosome: | 3q |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBIT |
| Number of cancer specimens: | 21931 |
| Percent of cancer specimens with mutations: | 1.01 |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | CBLB is a cytoplasmic E3 ubiquitin-protein ligase that transfers ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates, targeting them for degradation by proteasomes. It is a negative regulator of pathways associated with the T/B-cell and FcεRI receptor. It may also be involved in EGFR ubiquitination, internalization, and subsequent degradation. CBLB has been shown to inhibit c-Jun terminal kinase activation mediated by VAV and EGFR signalling. Alternatively spliced forms of the protein lacking the leucine zipper has been found in breast cancer cell lines. |