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CBLB (Cas-Br-M (murine) ecotropic retroviral transforming sequence b)

Written1999-09Olivier Rosnet
Centre d'Immunologie INSERM-CNRS de Marseille-Luminy Case 906, 13288 Marseille Cedex 9, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesCas-Br-M (murine) ectropic retroviral transforming sequence b
Cas-Br-M (murine) ecotropic retroviral transforming sequence b
Cbl proto-oncogene B, E3 ubiquitin protein ligase
Alias_symbol (synonym)RNF56
Cbl-b
HGNC (Hugo) CBLB
LocusID (NCBI) 868
Atlas_Id 193
Location 3q13.11  [Link to chromosome band 3q13]
Location_base_pair Starts at 105377109 and ends at 105587887 bp from pter ( according to hg19-Feb_2009)  [Mapping CBLB.png]
Fusion genes
(updated 2016)
ALPL (1p36.12) / CBLB (3q13.11)CBLB (3q13.11) / CBLB (3q13.11)CBLB (3q13.11) / KIAA1524 (3q13.13)
CBLB (3q13.11) / LIMCH1 (4p13)CBLB (3q13.11) / TPD52 (8q21.13)MCTP1 (5q15) / CBLB (3q13.11)
PDS5B (13q13.1) / CBLB (3q13.11)

DNA/RNA

Transcription major mRNA species of 4-5 kb and a less prominent species of 6-8 kb; 2946 bp open reading frame

Protein

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
Function regulation of signal transduction; CBLb has been shown to inhibit c-Jun terminal kinase (JNK) activation mediated by the (VAV oncoprotein and EGF receptor (EGFR) signaling; in contrast, a direct interaction between CBLb and the kinase ZAP-70 induces a positive signal in T cells

Mutations

Note no genomic alterations described to date

Implicated in

Note

Bibliography

Cbl-b, a member of the Sli-1/c-Cbl protein family, inhibits Vav-mediated c-Jun N-terminal kinase activation.
Bustelo XR, Crespo P, López-Barahona M, Gutkind JS, Barbacid M
Oncogene. 1997 ; 15 (21) : 2511-2520.
PMID 9399639
 
cbl-b inhibits epidermal growth factor receptor signaling.
Ettenberg SA, Keane MM, Nau MM, Frankel M, Wang LM, Pierce JH, Lipkowitz S
Oncogene. 1999 ; 18 (10) : 1855-1866.
PMID 10086340
 
Cloning and characterization of cbl-b: a SH3 binding protein with homology to the c-cbl proto-oncogene.
Keane MM, Rivero-Lezcano OM, Mitchell JA, Robbins KC, Lipkowitz S
Oncogene. 1995 ; 10 (12) : 2367-2377.
PMID 7784085
 
The CBL-related protein CBLB participates in FLT3 and interleukin-7 receptor signal transduction in pro-B cells.
Lavagna-Sé C, Marchetto S, Birnbaum D, Rosnet O
The Journal of biological chemistry. 1998 ; 273 (24) : 14962-14967.
PMID 9614102
 
A direct interaction between the adaptor protein Cbl-b and the kinase zap-70 induces a positive signal in T cells.
Zhang Z, Elly C, Qiu L, Altman A, Liu YC
Current biology : CB. 1999 ; 9 (4) : 203-206.
PMID 10074432
 

Citation

This paper should be referenced as such :
Rosnet, O
CBLb (Cas-Br-M (murine) ecotropic retroviral transforming sequence b)
Atlas Genet Cytogenet Oncol Haematol. 1999;3(3):132-133.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CBLbID193.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  del(11)(q23q23) KMT2A/CBL::t(11;11)(q23;q23) KMT2A/CBL
t(1;9)(q24;q34) RCSD1/ABL1


External links

Nomenclature
HGNC (Hugo)CBLB   1542
Cards
AtlasCBLbID193
Entrez_Gene (NCBI)CBLB  868  Cbl proto-oncogene B, E3 ubiquitin protein ligase
AliasesCbl-b; Nbla00127; RNF56
GeneCards (Weizmann)CBLB
Ensembl hg19 (Hinxton)ENSG00000114423 [Gene_View]  chr3:105377109-105587887 [Contig_View]  CBLB [Vega]
Ensembl hg38 (Hinxton)ENSG00000114423 [Gene_View]  chr3:105377109-105587887 [Contig_View]  CBLB [Vega]
ICGC DataPortalENSG00000114423
TCGA cBioPortalCBLB
AceView (NCBI)CBLB
Genatlas (Paris)CBLB
WikiGenes868
SOURCE (Princeton)CBLB
Genetics Home Reference (NIH)CBLB
Genomic and cartography
GoldenPath hg19 (UCSC)CBLB  -     chr3:105377109-105587887 -  3q   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CBLB  -     3q   [Description]    (hg38-Dec_2013)
EnsemblCBLB - 3q [CytoView hg19]  CBLB - 3q [CytoView hg38]
Mapping of homologs : NCBICBLB [Mapview hg19]  CBLB [Mapview hg38]
OMIM604491   
Gene and transcription
Genbank (Entrez)AA251219 AB075490 AI221219 AK094184 AK123147
RefSeq transcript (Entrez)NM_001321786 NM_001321788 NM_001321789 NM_001321790 NM_001321791 NM_001321793 NM_001321794 NM_001321795 NM_001321796 NM_001321797 NM_001321798 NM_001321799 NM_001321806 NM_001321807 NM_001321808 NM_001321811 NM_001321813 NM_001321816 NM_001321820 NM_001321822 NM_170662
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)CBLB
Cluster EST : UnigeneHs.430589 [ NCBI ]
CGAP (NCI)Hs.430589
Alternative Splicing GalleryENSG00000114423
Gene ExpressionCBLB [ NCBI-GEO ]   CBLB [ EBI - ARRAY_EXPRESS ]   CBLB [ SEEK ]   CBLB [ MEM ]
Gene Expression Viewer (FireBrowse)CBLB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)868
GTEX Portal (Tissue expression)CBLB
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13191   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13191  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13191
Splice isoforms : SwissVarQ13191
Catalytic activity : Enzyme6.3.2.- [ Enzyme-Expasy ]   6.3.2.-6.3.2.- [ IntEnz-EBI ]   6.3.2.- [ BRENDA ]   6.3.2.- [ KEGG ]   
PhosPhoSitePlusQ13191
Domaine pattern : Prosite (Expaxy)CBL_PTB (PS51506)    UBA (PS50030)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)Adaptor_Cbl    Adaptor_Cbl_EF_hand-like    Adaptor_Cbl_N_hlx    Adaptor_Cbl_SH2-like    Cbl_PTB    EF-hand-dom_pair    SH2    UBA    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS   
Domain families : Pfam (Sanger)Cbl_N (PF02262)    Cbl_N2 (PF02761)    Cbl_N3 (PF02762)   
Domain families : Pfam (NCBI)pfam02262    pfam02761    pfam02762   
Domain families : Smart (EMBL)RING (SM00184)  SH2 (SM00252)  UBA (SM00165)  
Conserved Domain (NCBI)CBLB
DMDM Disease mutations868
Blocks (Seattle)CBLB
PDB (SRS)2AK5    2BZ8    2DO6    2J6F    2JNH    2LDR    2OOA    2OOB    3PFV    3VGO    3ZNI   
PDB (PDBSum)2AK5    2BZ8    2DO6    2J6F    2JNH    2LDR    2OOA    2OOB    3PFV    3VGO    3ZNI   
PDB (IMB)2AK5    2BZ8    2DO6    2J6F    2JNH    2LDR    2OOA    2OOB    3PFV    3VGO    3ZNI   
PDB (RSDB)2AK5    2BZ8    2DO6    2J6F    2JNH    2LDR    2OOA    2OOB    3PFV    3VGO    3ZNI   
Structural Biology KnowledgeBase2AK5    2BZ8    2DO6    2J6F    2JNH    2LDR    2OOA    2OOB    3PFV    3VGO    3ZNI   
SCOP (Structural Classification of Proteins)2AK5    2BZ8    2DO6    2J6F    2JNH    2LDR    2OOA    2OOB    3PFV    3VGO    3ZNI   
CATH (Classification of proteins structures)2AK5    2BZ8    2DO6    2J6F    2JNH    2LDR    2OOA    2OOB    3PFV    3VGO    3ZNI   
SuperfamilyQ13191
Human Protein AtlasENSG00000114423
Peptide AtlasQ13191
HPRD05136
IPIIPI00292856   IPI00914020   IPI00746121   IPI00382825   IPI00878569   IPI00921884   IPI00793846   IPI01014789   
Protein Interaction databases
DIP (DOE-UCLA)Q13191
IntAct (EBI)Q13191
FunCoupENSG00000114423
BioGRIDCBLB
STRING (EMBL)CBLB
ZODIACCBLB
Ontologies - Pathways
QuickGOQ13191
Ontology : AmiGOprotein polyubiquitination  phosphotyrosine binding  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  signal transducer activity  calcium ion binding  protein binding  nucleoplasm  cytoplasm  cytosol  plasma membrane  NLS-bearing protein import into nucleus  signal transduction  cell surface receptor signaling pathway  zinc ion binding  response to gravity  response to hormone  ligase activity  protein kinase binding  regulation of signaling  membrane raft  
Ontology : EGO-EBIprotein polyubiquitination  phosphotyrosine binding  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  signal transducer activity  calcium ion binding  protein binding  nucleoplasm  cytoplasm  cytosol  plasma membrane  NLS-bearing protein import into nucleus  signal transduction  cell surface receptor signaling pathway  zinc ion binding  response to gravity  response to hormone  ligase activity  protein kinase binding  regulation of signaling  membrane raft  
Pathways : KEGGErbB signaling pathway    Ubiquitin mediated proteolysis    Endocytosis    Jak-STAT signaling pathway    T cell receptor signaling pathway    Insulin signaling pathway    Bacterial invasion of epithelial cells    Measles    Pathways in cancer    Proteoglycans in cancer    Chronic myeloid leukemia   
REACTOMEQ13191 [protein]
REACTOME PathwaysR-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation [pathway]
REACTOME PathwaysR-HSA-983695 Antigen activates B Cell Receptor (BCR) leading to generation of second messengers [pathway]
NDEx NetworkCBLB
Atlas of Cancer Signalling NetworkCBLB
Wikipedia pathwaysCBLB
Orthology - Evolution
OrthoDB868
GeneTree (enSembl)ENSG00000114423
Phylogenetic Trees/Animal Genes : TreeFamCBLB
HOVERGENQ13191
HOGENOMQ13191
Homologs : HomoloGeneCBLB
Homology/Alignments : Family Browser (UCSC)CBLB
Gene fusions - Rearrangements
Fusion : MitelmanCBLB/KIAA1524 [3q13.11/3q13.13]  
Fusion : MitelmanMCTP1/CBLB [5q15/3q13.11]  [t(3;5)(q13;q15)]  
Fusion: TCGACBLB 3q13.11 KIAA1524 3q13.13 PRAD
Fusion: TCGAMCTP1 5q15 CBLB 3q13.11 KIRC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCBLB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CBLB
dbVarCBLB
ClinVarCBLB
1000_GenomesCBLB 
Exome Variant ServerCBLB
ExAC (Exome Aggregation Consortium)CBLB (select the gene name)
Genetic variants : HAPMAP868
Genomic Variants (DGV)CBLB [DGVbeta]
DECIPHER (Syndromes)3:105377109-105587887  ENSG00000114423
CONAN: Copy Number AnalysisCBLB 
Mutations
ICGC Data PortalCBLB 
TCGA Data PortalCBLB 
Broad Tumor PortalCBLB
OASIS PortalCBLB [ Somatic mutations - Copy number]
Cancer Gene: CensusCBLB 
Somatic Mutations in Cancer : COSMICCBLB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCBLB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CBLB
DgiDB (Drug Gene Interaction Database)CBLB
DoCM (Curated mutations)CBLB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CBLB (select a term)
intoGenCBLB
NCG5 (London)CBLB
Cancer3DCBLB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604491   
Orphanet
MedgenCBLB
Genetic Testing Registry CBLB
NextProtQ13191 [Medical]
TSGene868
GENETestsCBLB
Huge Navigator CBLB [HugePedia]
snp3D : Map Gene to Disease868
BioCentury BCIQCBLB
ClinGenCBLB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD868
Chemical/Pharm GKB GenePA26116
Clinical trialCBLB
Miscellaneous
canSAR (ICR)CBLB (select the gene name)
Probes
Litterature
PubMed124 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCBLB
EVEXCBLB
GoPubMedCBLB
iHOPCBLB
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 20:07:09 CET 2016

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