CBLC (Cas-Br-M (murine) ecotropic retroviral transforming sequence c)

1999-09-01   Olivier Rosnet  

Centre dImmunologie INSERM-CNRS de Marseille-Luminy Case 906, 13288 Marseille Cedex 9, France

Identity

HGNC
LOCATION
19q13.32
LOCUSID
ALIAS
CBL-3,CBL-SL,RNF57
FUSION GENES

DNA/RNA

Transcription

2.8-3 kb mRNA; 1422 bp open reading frame

Proteins

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

Article Bibliography

Pubmed IDLast YearTitleAuthors

Other Information

Locus ID:

NCBI: 23624
MIM: 608453
HGNC: 15961
Ensembl: ENSG00000142273

Variants:

dbSNP: 23624
ClinVar: 23624
TCGA: ENSG00000142273
COSMIC: CBLC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142273ENST00000341505Q9ULV8
ENSG00000142273ENST00000647063A0A2R8Y647
ENSG00000142273ENST00000647358Q9ULV8

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
ErbB signaling pathwayKEGGko04012
Ubiquitin mediated proteolysisKEGGko04120
T cell receptor signaling pathwayKEGGko04660
Insulin signaling pathwayKEGGko04910
Chronic myeloid leukemiaKEGGko05220
ErbB signaling pathwayKEGGhsa04012
Ubiquitin mediated proteolysisKEGGhsa04120
T cell receptor signaling pathwayKEGGhsa04660
Insulin signaling pathwayKEGGhsa04910
Pathways in cancerKEGGhsa05200
Chronic myeloid leukemiaKEGGhsa05220
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Bacterial invasion of epithelial cellsKEGGko05100
Bacterial invasion of epithelial cellsKEGGhsa05100
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
351498392022Stabilization of AURKA by the E3 ubiquitin ligase CBLC in lung adenocarcinoma.11
360439962022CBLC inhibits the proliferation and metastasis of breast cancer cells via ubiquitination and degradation of CTTN.1
351498392022Stabilization of AURKA by the E3 ubiquitin ligase CBLC in lung adenocarcinoma.11
360439962022CBLC inhibits the proliferation and metastasis of breast cancer cells via ubiquitination and degradation of CTTN.1
312604842019Loss of function Cbl-c mutations in solid tumors.5
312604842019Loss of function Cbl-c mutations in solid tumors.5
299459602018Upregulation of E3 Ubiquitin Ligase CBLC Enhances EGFR Dysregulation and Signaling in Lung Adenocarcinoma.23
299459602018Upregulation of E3 Ubiquitin Ligase CBLC Enhances EGFR Dysregulation and Signaling in Lung Adenocarcinoma.23
284810402017Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.4
284810402017Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.4
258094852015Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.16
258832152015Complementary genetic screens identify the E3 ubiquitin ligase CBLC, as a modifier of PARP inhibitor sensitivity.10
263935122015The Ubiquitin Ligase CBLC Maintains the Network Organization of the Golgi Apparatus.4
258094852015Pathogenic mutations differentially affect the catalytic activities of the human B12-processing chaperone CblC and increase futile redox cycling.16
258832152015Complementary genetic screens identify the E3 ubiquitin ligase CBLC, as a modifier of PARP inhibitor sensitivity.10

Citation

Olivier Rosnet

CBLC (Cas-Br-M (murine) ecotropic retroviral transforming sequence c)

Atlas Genet Cytogenet Oncol Haematol. 1999-09-01

Online version: http://atlasgeneticsoncology.org/gene/194/favicon/js/css/template-nav.css