E3 ubiquitin-protein ligase CBL
The CBL gene encodes a ubiquitin which is involved in degradation of proteins. It is known as a proto-oncogene. Mutations cause an autosomal dominant Noonan syndrome-like disorder and juvenile myelomonocytic leukemia.
Genetests:
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References:
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Veiga E et al. (2005) Listeria hijacks the clathrin-dependent endocytic machinery to invade mammalian cells.
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Martin HC et al. (2014) Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
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Rathinam C et al. (2010) c-Cbl deficiency leads to diminished lymphocyte development and functions in an age-dependent manner.
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Sanada M et al. (2009) Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms.
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Dragone LL et al. (2006) Src-like adaptor protein (SLAP) regulates B cell receptor levels in a c-Cbl-dependent manner.
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Molero JC et al. (2004) c-Cbl-deficient mice have reduced adiposity, higher energy expenditure, and improved peripheral insulin action.
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Nau MM et al. (2003) Comparative genomic organization of the cbl genes.
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Fu JF et al. (2003) Identification of CBL, a proto-oncogene at 11q23.3, as a novel MLL fusion partner in a patient with de novo acute myeloid leukemia.
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Naramura M et al. (2002) c-Cbl and Cbl-b regulate T cell responsiveness by promoting ligand-induced TCR down-modulation.
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Petrelli A et al. (2002) The endophilin-CIN85-Cbl complex mediates ligand-dependent downregulation of c-Met.
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Soubeyran P et al. (2002) Cbl-CIN85-endophilin complex mediates ligand-induced downregulation of EGF receptors.
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Thien CB et al. (2001) RING finger mutations that abolish c-Cbl-directed polyubiquitination and downregulation of the EGF receptor are insufficient for cell transformation.
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Baumann CA et al. (2000) CAP defines a second signalling pathway required for insulin-stimulated glucose transport.
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Joazeiro CA et al. (1999) The tyrosine kinase negative regulator c-Cbl as a RING-type, E2-dependent ubiquitin-protein ligase.
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Yoon CH et al. (1995) Similarity of sli-1, a regulator of vulval development in C. elegans, to the mammalian proto-oncogene c-cbl.
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Shen Y et al. (2000) InIB-dependent internalization of Listeria is mediated by the Met receptor tyrosine kinase.
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Loh ML et al. (2009) Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
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Muramatsu H et al. (2010) Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.
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Pérez B et al. (2010) Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.
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Pathak A et al. (2015) Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.
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Martinelli S et al. (2010) Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
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Niemeyer CM et al. (2010) Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
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Savage PD et al. (1991) Relationship of the human protooncogene CBL2 on 11q23 to the t(4;11), t(11;22), and t(11;14) breakpoints.
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Wei S et al. (1990) Physical mapping of the human chromosome 11q23 region containing the ataxia-telangiectasia locus.
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Langdon WY et al. (1989) v-cbl, an oncogene from a dual-recombinant murine retrovirus that induces early B-lineage lymphomas.
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Mastick CC et al. (1995) Insulin stimulates the tyrosine phosphorylation of caveolin.
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Jones C et al. (1995) Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2.
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Jones C et al. (1994) Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3.
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Orphanet article
Orphanet ID 242915
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NCBI article
NCBI 867
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OMIM.ORG article
Omim 165360
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Wikipedia article
Wikipedia EN (CBL_(gene))
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Update: Aug. 14, 2020