Overview:

CBL proto-oncogene acts as a RING finger E3 ubiquitin ligase, transfers ubiquitin from specific E2 ubiquitin-conjugating enzymes to targeting substrates for degradation by the proteasome(1). The N-terminal phosphotyrosine binding domain of CBL allows the interaction with the substrates containing phosphorylated tyrosine including the activated receptor tyrosine kinases, which plays the negative regulation of these pathways (1). Mutation or translocation of CBL is involved in acute myeloid leukemia, Jacobsen syndrome and Noonan syndrome-like disorder (2, 3).

Gene Aliases:

C-CBL; CBL2; FRA11B; NSLL; RNF55

Genbank Number:

NM_005188

References:

1. Howlett C.J., et.al. The proto-oncogene p120 (Cbl) is a downstream substrate of the Hck protein-tyrosine kinase. Biochem. Biophys. Res. Commun. 257:129-138, 1999.

2. Muraoka M, et.al. Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy. J Hum Genet. Jun; 61(6): 523-6, 2016.

3. Martinelli S., et.al. Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am. J. Hum. Genet. 87:250-257, 2010.