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CBL (E3 ubiquitin-protein ligase CBL) is an enzyme. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Skin cancer and 5 more.
E3 ubiquitin-protein ligase that acts as a negative regulator of many signalling pathways by mediating ubiquitination of cell surface receptors. Accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Recognises activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, CSF1R, EPHA8 and KDR and mediates their ubiquitination to terminate signalling.
CIViC holds 8 clinical evidence items and 0 assertions across 9 variants, naming SU11274. Open Targets scores its association with cancer at 0.86 (direct and indirect evidence; datatypes genetic literature 0.76, affected pathway 0.81, literature 0.98, genetic association 0.81, somatic mutation 0.90, animal model 0.61). IntOGen calls it a driver in 3 cohorts (1 activating, 2 loss-of-function), covering Acute Lymphoblastic Leukaemia, Acute Myeloid Leukaemia, Oesophageal Adenocarcinoma.
In plain words · CBL (E3 ubiquitin-protein ligase CBL) is an enzyme. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Skin cancer and 5 more.
CBL (E3 ubiquitin-protein ligase CBL) is an enzyme. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Myeloproliferative neoplasms, Leukaemia, Skin cancer and 5 more.
E3 ubiquitin-protein ligase that acts as a negative regulator of many signalling pathways by mediating ubiquitination of cell surface receptors.
No product in this corpus aims at CBL yet. Inhibitors are shaped to fit the enzyme's active site so the reaction the cancer relies on stops.
Tumour-specific alteration: the catalogues call it an oncogene driver (IntOGen cohort analysis finds it activated more often than chance) and a tumour suppressor (IntOGen finds it knocked out more often than chance), so the direction differs between cohorts but the alteration is somatic either way; what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA CBL: RNA low tissue specificity; high antibody staining in 1 normal tissue; highest cancer staining lymphoma (6 of 12 high). Distribution: 7 cancer families in the corpus carry a prevalence row, label threshold or catalogue link for it (Myeloid neoplasms, Leukaemia, Skin cancer (all types), Oesophageal cancer, Ovarian cancer, Sarcomas (soft tissue, bone, GIST), Lung cancer (all types)); Open Targets associates it with 2 specific cancer types at or above 0.5 (CBL-related disorder, juvenile myelomonocytic leukemia). (Rule 6 of scripts/fetch-target-specificity.ts.)
Sources: UniProt P22681; CIViC gene CBL; IntOGen CBL; Human Protein Atlas CBL tissue; Open Targets ENSG00000110395 associations
First described 1991. Earliest sequence paper UniProt cites for the protein: Blake T.J. et al, Oncogene, 1991, "The sequences of the human and mouse c-cbl proto-oncogenes show v-cbl was generated by a large truncation encompassing a proline-rich domain and a leucine zipper-like motif". Source.
Sources: HGNC HGNC:1541 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt P22681 (protein name, function text, keywords and locations (REST API)); CIViC gene CBL (8 evidence items, 0 assertions, 9 variants; diseases: Lung Non-small Cell Carcinoma, Acute Myeloid Leukaemia, Juvenile Myelomonocytic Leukaemia (GraphQL API, CC0)); Open Targets ENSG00000110395 (association with cancer (MONDO_0004992) 0.86; per-cancer scores at or above 0.5: ovarian cancer 0.56, melanoma 0.58, sarcoma 0.52, acute myeloid leukaemia 0.59, skin cancer 0.58, myeloproliferative neoplasm 0.81 (GraphQL API, CC0)); IntOGen CBL (driver in 3 cohorts (Act 1, LoF 2); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
E3 ubiquitin-protein ligase that acts as a negative regulator of many signalling pathways by mediating ubiquitination of cell surface receptors. Accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Recognises activated receptor tyrosine kinases, including KIT, FLT1, FGFR1, FGFR2, PDGFRA, PDGFRB, CSF1R, EPHA8 and KDR and mediates their ubiquitination to terminate signalling. Recognises membrane-bound HCK, SRC and other kinases of the SRC family and mediates their ubiquitination and degradation. Ubiquitinates EGFR and SPRY2. Involved in LAG3-mediated inhibition of TCR signalling: following ligand-binding to LAG3, catalyses 'Lys-63'-linked ubiquitination of LAG3, unleashing the LAG3 C-terminus from the membrane, and initiating a signalling that prevents TCR activation. Location: Cytoplasm; Cell membrane; Cell projection, cilium; Golgi apparatus (UniProt). Locus 11q23.3 (HGNC).
RNA: low tissue specificity, detected in all normal tissues.
Medium: Appendix, Bone marrow, Kidney, Lung, Lymph node, Spleen, Tonsil.
Medium only: breast cancer, carcinoid, cervical cancer, colorectal cancer.
Human Protein Atlas version 25.1, antibody staining at reliability approved, enhanced or supported; used under CC BY-SA 3.0. Staining counts are patients per level in the atlas cohort, not population prevalence.
Query for this target: (TITLE:"CBL" OR ABSTRACT:"CBL" OR TITLE:"Cbl proto-oncogene" OR ABSTRACT:"Cbl proto-oncogene" OR TITLE:"E3 ubiquitin-protein ligase CBL" OR ABSTRACT:"E3 ubiquitin-protein ligase CBL" OR TITLE:"RNF55" OR ABSTRACT:"RNF55" OR TITLE:"c-Cbl" OR ABSTRACT:"c-Cbl" OR TITLE:"CBL2" OR ABSTRACT:"CBL2") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about CBL, not a curated reading list.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Skin cancer (all types), CIViC.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Sarcomas (soft tissue, bone, GIST), CIViC.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Skin cancer (all types), CIViC.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Skin cancer (all types), Acute myeloid leukaemia.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Acute myeloid leukaemia, IntOGen.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Skin cancer (all types), CIViC.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Skin cancer (all types), CIViC.
Shares Myeloproliferative neoplasms (PV, ET, myelofibrosis), Leukaemia (all types), Skin cancer (all types), CIViC.