Gene
cbl
- ID
- ZDB-GENE-041114-207
- Name
- Cbl proto-oncogene, E3 ubiquitin protein ligase
- Symbol
- cbl Nomenclature History
- Previous Names
-
- wu:fd16a12
- zgc:92560 (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable receptor tyrosine kinase binding activity and ubiquitin protein ligase activity. Acts upstream of or within definitive hemopoiesis. Predicted to be located in Golgi apparatus; cilium; and cytosol. Predicted to be active in membrane raft and plasma membrane. Used to study Noonan syndrome and myeloproliferative neoplasm. Human ortholog(s) of this gene implicated in acute myeloid leukemia; congestive heart failure; juvenile myelomonocytic leukemia; lung non-small cell carcinoma; and myeloid neoplasm. Orthologous to human CBL (Cbl proto-oncogene).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:92560 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
juvenile myelomonocytic leukemia | Alliance | ?Juvenile myelomonocytic leukemia | 607785 |
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | 613563 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
myeloproliferative neoplasm | cblrj32/rj32 (TU) | standard conditions | Peng et al., 2015 |
Noonan syndrome | cblidv2/idv2 | standard conditions | Rosello et al., 2021 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR017907 | Zinc finger, RING-type, conserved site |
Domain | IPR001841 | Zinc finger, RING-type |
Domain | IPR003153 | Adaptor protein Cbl, N-terminal helical |
Domain | IPR014741 | Adaptor protein Cbl, EF hand-like |
Domain | IPR014742 | Adaptor protein Cbl, SH2-like domain |
Domain | IPR015940 | Ubiquitin-associated domain |
Domain | IPR018957 | Zinc finger, C3HC4 RING-type |
Domain | IPR024159 | Adaptor protein Cbl, PTB domain |
Family | IPR024162 | Adaptor protein Cbl |
Homologous_superfamily | IPR009060 | UBA-like superfamily |
Homologous_superfamily | IPR011992 | EF-hand domain pair |
Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
Homologous_superfamily | IPR036537 | Adaptor protein Cbl, N-terminal domain superfamily |
Homologous_superfamily | IPR036860 | SH2 domain superfamily |
Domain Details Per Protein
Protein | Additional Resources | Length | Adaptor protein Cbl | Adaptor protein Cbl, EF hand-like | Adaptor protein Cbl, N-terminal domain superfamily | Adaptor protein Cbl, N-terminal helical | Adaptor protein Cbl, PTB domain | Adaptor protein Cbl, SH2-like domain | EF-hand domain pair | SH2 domain superfamily | UBA-like superfamily | Ubiquitin-associated domain | Zinc finger, C3HC4 RING-type | Zinc finger, RING/FYVE/PHD-type | Zinc finger, RING-type | Zinc finger, RING-type, conserved site |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M2B4G4 | InterPro | 912 | ||||||||||||||
UniProtKB:Q5U376 | InterPro | 913 |
Interactions and Pathways
No data available
Plasmids
No data available