| Identity |
| Other names | CBLc |
| CBL-3 | |
| HGNC (Hugo) | CBLC |
| LocusID (NCBI) | 23624 |
| Location | 19q13.32 |
| Location_base_pair | Starts at 45281126 and ends at 45303903 bp from pter ( according to hg19-Feb_2009) [Mapping] |
| DNA/RNA |
| Transcription | 2.8-3 kb mRNA; 1422 bp open reading frame |
| Protein |
| Description | 474 amino acids; 52.5 kDa; the CBLc protein contains the evolutionarily conserved aminoterminal phosphotyrosine binding region and the Ring finger with a Cys3HisCys4 motif found in CBL and CBLb. The phosphotyrosine binding domain is composed of three interacting domains: a four-helix bundle (4H), an EF-hand calcium binding domain, and a divergent SH2 domain; the three domains together form an integrated phosphoprotein-recognition module; the CBLc protein lacks the extensive proline-rich domain and the leucine zipper found in CBL and CBLb; only one proline-rich motif is conserved at the carboxy terminus of CBLc; thus, CBLc structurally most resembles the C.elegans and D.melanogaster CBL-related proteins, SLI-1 and D-CBL, respectively; an alternatively spliced mRNA codes form a CBLc isoform lacking a critical region in the phosphotyrosine binding domain |
| Expression | the CBLc gene is ubiquitously expressed with highest expression in the aerodigestive tract (stomach, liver, pancreas, small intestine, colon, trachea, and lung), prostate, thyroid gland, adrenal gland, and salivary gland |
| Localisation | cytoplasmic |
| Function | regulation of signal transduction pathways; CBLc is recruited to the EGF (epidermal growth factor) receptor (EGFR) upon EGF stimulation and inhibits EGF stimulated MAP kinase activation |
| Mutations |
| Note | no genomic alterations described to date |
| External links |
| Bibliography |
| A third human CBL gene is on chromosome 19. |
| Ollendorff V, Mattei M, Fournier E, Adelaide J, Lopez M, Rosnet O, Birnbaum D |
| International journal of oncology. 1998 ; 13 (6) : 1159-1161. |
| PMID 9824625 |
| cbl-3: a new mammalian cbl family protein. |
| Keane MM, Ettenberg SA, Nau MM, Banerjee P, Cuello M, Penninger J, Lipkowitz S |
| Oncogene. 1999 ; 18 (22) : 3365-3375. |
| PMID 10362357 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 09-1999 | Olivier Rosnet |
| Citation |
| This paper should be referenced as such : |
| Rosnet O . CBLC (Cas-Br-M (murine) ecotropic retroviral transforming sequence c). Atlas Genet Cytogenet Oncol Haematol. September 1999 . URL : http://AtlasGeneticsOncology.org/Genes/CBLcID194.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/37530/1/09-1999-CBLcID194.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed May 1 13:11:36 CEST 2013 |
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