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

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 c
Cas-Br-M (murine) ecotropic retroviral transforming sequence c
Cbl proto-oncogene C, E3 ubiquitin protein ligase
Alias_symbol (synonym)CBL-3
CBL-SL
RNF57
Other aliasCBLc
HGNC (Hugo) CBLC
LocusID (NCBI) 23624
Atlas_Id 194
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 44777869 and ends at 44800646 bp from pter ( according to hg19-Feb_2009)  [Mapping CBLC.png]
Fusion genes
(updated 2016)
CBLC (19q13.32) / RP11-419C5.2 ()

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

Bibliography

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
 
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
 

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. 1999;3(3):134-134.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CBLcID194.html


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


External links

Nomenclature
HGNC (Hugo)CBLC   15961
Cards
AtlasCBLcID194
Entrez_Gene (NCBI)CBLC  23624  Cbl proto-oncogene C
AliasesCBL-3; CBL-SL; RNF57
GeneCards (Weizmann)CBLC
Ensembl hg19 (Hinxton)ENSG00000142273 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000142273 [Gene_View]  chr19:44777869-44800646 [Contig_View]  CBLC [Vega]
ICGC DataPortalENSG00000142273
TCGA cBioPortalCBLC
AceView (NCBI)CBLC
Genatlas (Paris)CBLC
WikiGenes23624
SOURCE (Princeton)CBLC
Genetics Home Reference (NIH)CBLC
Genomic and cartography
GoldenPath hg38 (UCSC)CBLC  -     chr19:44777869-44800646 +  19q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CBLC  -     19q13.32   [Description]    (hg19-Feb_2009)
EnsemblCBLC - 19q13.32 [CytoView hg19]  CBLC - 19q13.32 [CytoView hg38]
Mapping of homologs : NCBICBLC [Mapview hg19]  CBLC [Mapview hg38]
OMIM608453   
Gene and transcription
Genbank (Entrez)AB028645 AF117646 AF117647 BC028915 BF835530
RefSeq transcript (Entrez)NM_001130852 NM_012116
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CBLC
Cluster EST : UnigeneHs.466907 [ NCBI ]
CGAP (NCI)Hs.466907
Alternative Splicing GalleryENSG00000142273
Gene ExpressionCBLC [ NCBI-GEO ]   CBLC [ EBI - ARRAY_EXPRESS ]   CBLC [ SEEK ]   CBLC [ MEM ]
Gene Expression Viewer (FireBrowse)CBLC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23624
GTEX Portal (Tissue expression)CBLC
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULV8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULV8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULV8
Splice isoforms : SwissVarQ9ULV8
PhosPhoSitePlusQ9ULV8
Domaine pattern : Prosite (Expaxy)CBL_PTB (PS51506)    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    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)  
Conserved Domain (NCBI)CBLC
DMDM Disease mutations23624
Blocks (Seattle)CBLC
PDB (SRS)3OP0    3VRN    3VRO    3VRP    3VRQ    3VRR   
PDB (PDBSum)3OP0    3VRN    3VRO    3VRP    3VRQ    3VRR   
PDB (IMB)3OP0    3VRN    3VRO    3VRP    3VRQ    3VRR   
PDB (RSDB)3OP0    3VRN    3VRO    3VRP    3VRQ    3VRR   
Structural Biology KnowledgeBase3OP0    3VRN    3VRO    3VRP    3VRQ    3VRR   
SCOP (Structural Classification of Proteins)3OP0    3VRN    3VRO    3VRP    3VRQ    3VRR   
CATH (Classification of proteins structures)3OP0    3VRN    3VRO    3VRP    3VRQ    3VRR   
SuperfamilyQ9ULV8
Human Protein AtlasENSG00000142273
Peptide AtlasQ9ULV8
HPRD09765
IPIIPI00008459   IPI00220418   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULV8
IntAct (EBI)Q9ULV8
FunCoupENSG00000142273
BioGRIDCBLC
STRING (EMBL)CBLC
ZODIACCBLC
Ontologies - Pathways
QuickGOQ9ULV8
Ontology : AmiGOphosphotyrosine binding  signal transducer activity  epidermal growth factor receptor binding  calcium ion binding  nucleus  plasma membrane  cell surface receptor signaling pathway  negative regulation of epidermal growth factor-activated receptor activity  zinc ion binding  protein ubiquitination  SH3 domain binding  receptor tyrosine kinase binding  negative regulation of epidermal growth factor receptor signaling pathway  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  negative regulation of MAP kinase activity  membrane raft  ubiquitin protein ligase activity  extracellular exosome  
Ontology : EGO-EBIphosphotyrosine binding  signal transducer activity  epidermal growth factor receptor binding  calcium ion binding  nucleus  plasma membrane  cell surface receptor signaling pathway  negative regulation of epidermal growth factor-activated receptor activity  zinc ion binding  protein ubiquitination  SH3 domain binding  receptor tyrosine kinase binding  negative regulation of epidermal growth factor receptor signaling pathway  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  negative regulation of MAP kinase activity  membrane raft  ubiquitin protein ligase activity  extracellular exosome  
Pathways : KEGG   
NDEx NetworkCBLC
Atlas of Cancer Signalling NetworkCBLC
Wikipedia pathwaysCBLC
Orthology - Evolution
OrthoDB23624
GeneTree (enSembl)ENSG00000142273
Phylogenetic Trees/Animal Genes : TreeFamCBLC
HOVERGENQ9ULV8
HOGENOMQ9ULV8
Homologs : HomoloGeneCBLC
Homology/Alignments : Family Browser (UCSC)CBLC
Gene fusions - Rearrangements
Fusion: TCGACBLC 19q13.32 RP11-419C5.2 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCBLC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CBLC
dbVarCBLC
ClinVarCBLC
1000_GenomesCBLC 
Exome Variant ServerCBLC
ExAC (Exome Aggregation Consortium)CBLC (select the gene name)
Genetic variants : HAPMAP23624
Genomic Variants (DGV)CBLC [DGVbeta]
DECIPHERCBLC [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCBLC 
Mutations
ICGC Data PortalCBLC 
TCGA Data PortalCBLC 
Broad Tumor PortalCBLC
OASIS PortalCBLC [ Somatic mutations - Copy number]
Cancer Gene: CensusCBLC 
Somatic Mutations in Cancer : COSMICCBLC  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCBLC
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 CBLC
DgiDB (Drug Gene Interaction Database)CBLC
DoCM (Curated mutations)CBLC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CBLC (select a term)
intoGenCBLC
NCG5 (London)CBLC
Cancer3DCBLC(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608453   
Orphanet
MedgenCBLC
Genetic Testing Registry CBLC
NextProtQ9ULV8 [Medical]
TSGene23624
GENETestsCBLC
Target ValidationCBLC
Huge Navigator CBLC [HugePedia]
snp3D : Map Gene to Disease23624
BioCentury BCIQCBLC
ClinGenCBLC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23624
Chemical/Pharm GKB GenePA26117
Clinical trialCBLC
Miscellaneous
canSAR (ICR)CBLC (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCBLC
EVEXCBLC
GoPubMedCBLC
iHOPCBLC
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Aug 1 17:22:30 CEST 2017

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