CBLB (Cas-Br-M (murine) ecotropic retroviral transforming sequence b)
1999-09-01 Olivier Rosnet   AffiliationCentre dImmunologie INSERM-CNRS de Marseille-Luminy Case 906, 13288 Marseille Cedex 9, France
Identity
HGNC
LOCATION
3q13.11
LOCUSID
ALIAS
Cbl-b,Nbla00127,RNF56
FUSION GENES
DNA/RNA
Transcription
major mRNA species of 4-5 kb and a less prominent species of 6-8 kb; 2946 bp open reading frame
Proteins
Description
982 amino acids; 120 kDa; the overall structure of CBLb is very close to the sructure of CBL: the evolutionarily conserved aminoterminal region of CBL 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; this aminoterminal region is followed by a central Ring finger with a Cys3HisCys4 motif and an aminoterminal region with multiple proline-rich sequences, a putative leucine zipper and several potential tyrosine phosphorylation sites; two alternatively spliced mRNA code form CBLb proteins lacking the leucine zipper
Expression
expression of CBLb was seen in several human adult tissues including lung, spleen and testis but not in human brain, liver, pancreas, salivary gland or skeletal muscle; expression was also detected in fetal brain and liver, in hematopoietic cell lines and in normal and malignant mammary epithelial cell lines
Localisation
cytoplasmic
Mutations
Note
no genomic alterations described to date
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 9399639 | 1997 | Cbl-b, a member of the Sli-1/c-Cbl protein family, inhibits Vav-mediated c-Jun N-terminal kinase activation. | Bustelo XR et al |
| 10086340 | 1999 | cbl-b inhibits epidermal growth factor receptor signaling. | Ettenberg SA et al |
| 7784085 | 1995 | Cloning and characterization of cbl-b: a SH3 binding protein with homology to the c-cbl proto-oncogene. | Keane MM et al |
| 9614102 | 1998 | The CBL-related protein CBLB participates in FLT3 and interleukin-7 receptor signal transduction in pro-B cells. | Lavagna-Sévenier C et al |
| 10074432 | 1999 | A direct interaction between the adaptor protein Cbl-b and the kinase zap-70 induces a positive signal in T cells. | Zhang Z et al |
Other Information
Locus ID:
NCBI: 868
MIM: 604491
HGNC: 1542
Ensembl: ENSG00000114423
Variants:
dbSNP: 868
ClinVar: 868
TCGA: ENSG00000114423
COSMIC: CBLB
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38284251 | 2024 | [Circular RNA Cbl proto-oncogene B (circCBLB) inhibits proliferation, promotes apoptosis, and increases anti-inflammatory cytokine levels of fibroblast-like synoviocytes in rheumatoid arthritis]. | 0 |
| 38284251 | 2024 | [Circular RNA Cbl proto-oncogene B (circCBLB) inhibits proliferation, promotes apoptosis, and increases anti-inflammatory cytokine levels of fibroblast-like synoviocytes in rheumatoid arthritis]. | 0 |
| 37903221 | 2023 | Cbl and Cbl-b independently regulate EGFR through distinct receptor interaction modes. | 3 |
| 37903221 | 2023 | Cbl and Cbl-b independently regulate EGFR through distinct receptor interaction modes. | 3 |
| 35204692 | 2022 | miR-27b-3p Attenuates Muscle Atrophy by Targeting Cbl-b in Skeletal Muscles. | 3 |
| 36006710 | 2022 | Immune dysregulation caused by homozygous mutations in CBLB. | 3 |
| 36165179 | 2022 | CBLB Deficiency in Human CD4(+) T Cells Results in Resistance to T Regulatory Suppression through Multiple Mechanisms. | 0 |
| 35204692 | 2022 | miR-27b-3p Attenuates Muscle Atrophy by Targeting Cbl-b in Skeletal Muscles. | 3 |
| 36006710 | 2022 | Immune dysregulation caused by homozygous mutations in CBLB. | 3 |
| 36165179 | 2022 | CBLB Deficiency in Human CD4(+) T Cells Results in Resistance to T Regulatory Suppression through Multiple Mechanisms. | 0 |
| 33419766 | 2021 | Cbl-b Is Upregulated and Plays a Negative Role in Activated Human NK Cells. | 8 |
| 33462140 | 2021 | Deletion of Cbl-b inhibits CD8(+) T-cell exhaustion and promotes CAR T-cell function. | 36 |
| 33741730 | 2021 | CBLB ablation with CRISPR/Cas9 enhances cytotoxicity of human placental stem cell-derived NK cells for cancer immunotherapy. | 16 |
| 33419766 | 2021 | Cbl-b Is Upregulated and Plays a Negative Role in Activated Human NK Cells. | 8 |
| 33462140 | 2021 | Deletion of Cbl-b inhibits CD8(+) T-cell exhaustion and promotes CAR T-cell function. | 36 |
Citation
Olivier Rosnet
CBLB (Cas-Br-M (murine) ecotropic retroviral transforming sequence b)
Atlas Genet Cytogenet Oncol Haematol. 1999-09-01
Online version: http://atlasgeneticsoncology.org/gene/193/cblb
