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

Identity

Other namesCBLb
HGNC (Hugo) CBLB
LocusID (NCBI) 868
Location 3q13.11
Location_base_pair Starts at 105377109 and ends at 105587887 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030

External links

Nomenclature
HGNC (Hugo)CBLB   1542
Cards
AtlasCBLbID193
Entrez_Gene (NCBI)CBLB  868  Cbl proto-oncogene B, E3 ubiquitin protein ligase
GeneCards (Weizmann)CBLB
Ensembl (Hinxton)ENSG00000114423 [Gene_View]  chr3:105377109-105587887 [Contig_View]  CBLB [Vega]
ICGC DataPortalENSG00000114423
cBioPortalCBLB
AceView (NCBI)CBLB
Genatlas (Paris)CBLB
WikiGenes868
SOURCE (Princeton)NM_170662
Genomic and cartography
GoldenPath (UCSC)CBLB  -  3q13.11   chr3:105377109-105587887 -  3q   [Description]    (hg19-Feb_2009)
EnsemblCBLB - 3q [CytoView]
Mapping of homologs : NCBICBLB [Mapview]
OMIM604491   
Gene and transcription
Genbank (Entrez)AA251219 AB075490 AK094184 AK123147 AK130668
RefSeq transcript (Entrez)NM_170662
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NT_005612 NW_001838881 NW_004929311
Consensus coding sequences : CCDS (NCBI)CBLB
Cluster EST : UnigeneHs.430589 [ NCBI ]
CGAP (NCI)Hs.430589
Alternative Splicing : Fast-db (Paris)GSHG0021905
Alternative Splicing GalleryENSG00000114423
Gene ExpressionCBLB [ NCBI-GEO ]     CBLB [ SEEK ]   CBLB [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13191 (Uniprot)
NextProtQ13191  [Medical]
With graphics : InterProQ13191
Splice isoforms : SwissVarQ13191 (Swissvar)
Catalytic activity : Enzyme6.3.2.- [ Enzyme-Expasy ]   6.3.2.-6.3.2.- [ IntEnz-EBI ]   6.3.2.- [ BRENDA ]   6.3.2.- [ KEGG ]   
Domaine pattern : Prosite (Expaxy)CBL_PTB (PS51506)    UBA (PS50030)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)Adaptor_Cbl [organisation]   Adaptor_Cbl_EF_hand-like [organisation]   Adaptor_Cbl_N_hlx [organisation]   Adaptor_Cbl_SH2-like [organisation]   Cbl_PTB [organisation]   EF-hand-dom_pair [organisation]   SH2 [organisation]   UBA/transl_elong_EF1B_N_euk [organisation]   UBA/Ts_N [organisation]   Znf_RING [organisation]   Znf_RING/FYVE/PHD [organisation]   Znf_RING_CS [organisation]  
Related proteins : CluSTrQ13191
Domain families : Pfam (Sanger)Cbl_N (PF02262)    Cbl_N2 (PF02761)    Cbl_N3 (PF02762)    UBA (PF00627)   
Domain families : Pfam (NCBI)pfam02262    pfam02761    pfam02762    pfam00627   
Domain families : Smart (EMBL)RING (SM00184)  SH2 (SM00252)  UBA (SM00165)  
DMDM Disease mutations868
Blocks (Seattle)Q13191
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   
Human Protein AtlasENSG00000114423 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ13191
HPRD05136
IPIIPI00292856   IPI00914020   IPI00746121   IPI00382825   IPI00878569   IPI00921884   IPI00793846   IPI01014789   
Protein Interaction databases
DIP (DOE-UCLA)Q13191
IntAct (EBI)Q13191
FunCoupENSG00000114423
BioGRIDCBLB
InParanoidQ13191
Interologous Interaction database Q13191
IntegromeDBCBLB
STRING (EMBL)CBLB
Ontologies - Pathways
Ontology : AmiGOphosphotyrosine binding  positive regulation of T cell anergy  ubiquitin-protein transferase activity  signal transducer activity  calcium ion binding  protein binding  nucleus  nucleolus  cytoplasm  cytosol  plasma membrane  NLS-bearing protein import into nucleus  immune response  signal transduction  cell surface receptor signaling pathway  zinc ion binding  protein ubiquitination  ligase activity  intracellular signal transduction  T cell activation  positive regulation of protein catabolic process  negative regulation of alpha-beta T cell proliferation  negative regulation of T cell receptor signaling pathway  
Ontology : EGO-EBIphosphotyrosine binding  positive regulation of T cell anergy  ubiquitin-protein transferase activity  signal transducer activity  calcium ion binding  protein binding  nucleus  nucleolus  cytoplasm  cytosol  plasma membrane  NLS-bearing protein import into nucleus  immune response  signal transduction  cell surface receptor signaling pathway  zinc ion binding  protein ubiquitination  ligase activity  intracellular signal transduction  T cell activation  positive regulation of protein catabolic process  negative regulation of alpha-beta T cell proliferation  negative regulation of T cell receptor signaling pathway  
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   
Protein Interaction DatabaseCBLB
Wikipedia pathwaysCBLB
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CBLB
snp3D : Map Gene to Disease868
SNP (GeneSNP Utah)CBLB
SNP : HGBaseCBLB
Genetic variants : HAPMAPCBLB
Exome VariantCBLB
1000_GenomesCBLB 
ICGC programENSG00000114423 
Cancer Gene: CensusCBLB 
Somatic Mutations in Cancer : COSMICCBLB 
CONAN: Copy Number AnalysisCBLB 
Mutations and Diseases : HGMDCBLB
Genomic VariantsCBLB  CBLB [DGVbeta]
dbVarCBLB
ClinVarCBLB
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM604491   
MedgenCBLB
GENETestsCBLB
Disease Genetic AssociationCBLB
Huge Navigator CBLB [HugePedia]  CBLB [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCBLB
Homology/Alignments : Family Browser (UCSC)CBLB
Phylogenetic Trees/Animal Genes : TreeFamCBLB
Chemical/Protein Interactions : CTD868
Chemical/Pharm GKB GenePA26116
Clinical trialCBLB
Cancer Resource (Charite)ENSG00000114423
Other databases
Probes
Litterature
PubMed102 Pubmed reference(s) in Entrez
CoreMineCBLB
iHOPCBLB
OncoSearchCBLB

Bibliography

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
 
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, LąĄpez-Barahona M, Gutkind JS, Barbacid M
Oncogene. 1997 ; 15 (21) : 2511-2520.
PMID 9399639
 
The CBL-related protein CBLB participates in FLT3 and interleukin-7 receptor signal transduction in pro-B cells.
Lavagna-Są©venier C, Marchetto S, Birnbaum D, Rosnet O
The Journal of biological chemistry. 1998 ; 273 (24) : 14962-14967.
PMID 9614102
 
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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-1999Olivier Rosnet

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/CBLbID193.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Aug 8 11:23:56 CEST 2014

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