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

Identity

Other namesCBL-3
Hugo CBLC
Location 19q13.2

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

External links

Nomenclature
HugoCBLC
GDBCBLC
Entrez_GeneCBLC  23624  Cas-Br-M (murine) ecotropic retroviral transforming sequence c
Cards
AtlasCBLcID194
GeneCardsCBLC
EnsemblCBLC [Search_View]   ENSG00000142273 [Gene_View]
GenatlasCBLC
GeneLynxCBLC
eGenomeCBLC
euGene23624
Genomic and cartography
GoldenPathCBLC  -  19q13.2   chr19:49972988-49995731 +  19q13.2   [Description]    (hg18-Mar_2006)
EnsemblCBLC - 19q13.2 [CytoView]
NCBIMapview
OMIMDisease map [OMIM]
HomoloGeneCBLC
Gene and transcription
GenbankAB028645 [ ENTREZ ]
GenbankAF117646 [ ENTREZ ]
GenbankAF117647 [ ENTREZ ]
GenbankBC028915 [ ENTREZ ]
GenbankDQ891243 [ ENTREZ ]
RefSeqNM_012116 [ SRS ]    NM_012116 [ ENTREZ ]
RefSeqAC_000062 [ SRS ]    AC_000062 [ ENTREZ ]
RefSeqNC_000019 [ SRS ]    NC_000019 [ ENTREZ ]
RefSeqNT_011109 [ SRS ]    NT_011109 [ ENTREZ ]
RefSeqNW_927217 [ SRS ]    NW_927217 [ ENTREZ ]
AceViewCBLC AceView - NCBI
UnigeneHs.466907 [ SRS ]    Hs.466907 [ NCBI ]     HS466907 [ spliceNest ]
Fast-db13210 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtQ9ULV8 [ SRS]    Q9ULV8 [ EXPASY ]     Q9ULV8 [ INTERPRO ]
PrositePS50001 SH2 [ SRS ]    PS50001 SH2 [ Expasy ]
PrositePS00518 ZF_RING_1 [ SRS ]    PS00518 ZF_RING_1 [ Expasy ]
PrositePS50089 ZF_RING_2 [ SRS ]    PS50089 ZF_RING_2 [ Expasy ]
InterproIPR014741 Adaptor_Cbl_EF_Hand-like [ SRS ]    IPR014741 Adaptor_Cbl_EF_Hand-like [ EBI ]
InterproIPR003153 Adaptor_Cbl_N [ SRS ]    IPR003153 Adaptor_Cbl_N [ EBI ]
InterproIPR014742 Adaptor_Cbl_SH2-like [ SRS ]    IPR014742 Adaptor_Cbl_SH2-like [ EBI ]
InterproIPR011992 EF-Hand_type [ SRS ]    IPR011992 EF-Hand_type [ EBI ]
InterproIPR000980 SH2 [ SRS ]    IPR000980 SH2 [ EBI ]
InterproIPR001841 Znf_RING [ SRS ]    IPR001841 Znf_RING [ EBI ]
InterproIPR013083 Znf_RING/FYVE/PHD [ SRS ]    IPR013083 Znf_RING/FYVE/PHD [ EBI ]
CluSTrQ9ULV8
PfamPF02262 Cbl_N [ SRS ]    PF02262 Cbl_N [ Sanger ]    pfam02262 [ NCBI-CDD ]
PfamPF02761 Cbl_N2 [ SRS ]    PF02761 Cbl_N2 [ Sanger ]    pfam02761 [ NCBI-CDD ]
PfamPF02762 Cbl_N3 [ SRS ]    PF02762 Cbl_N3 [ Sanger ]    pfam02762 [ NCBI-CDD ]
PfamPF00097 zf-C3HC4 [ SRS ]    PF00097 zf-C3HC4 [ Sanger ]    pfam00097 [ NCBI-CDD ]
SmartSM00184 RING [EMBL]
SmartSM00252 SH2 [EMBL]
BlocksQ9ULV8
HPRD09765
Protein Interaction databases
DIPQ9ULV8
IntActQ9ULV8
Polymorphism : SNP, mutations, diseases
OMIM608453    [ map ]   
GENECLINICS608453
SNPCBLC [dbSNP-NCBI]  
SNPNM_012116 [SNP-NCI]  
SNPCBLC [GeneSNPs - Utah]  CBLC] [HGBASE - SRS]
HAPMAPCBLC [HAPMAP]  
COSMICCBLC [Somatic mutation (COSMIC-CGP-Sanger)]  
HGMDCBLC
General knowledge
Family BrowserCBLC [UCSC Family Browser]
SOURCENM_012116
SMDHs.466907
SAGEHs.466907
GOsignal transducer activity [Amigo]  signal transducer activity
GOcalcium ion binding [Amigo]  calcium ion binding
GOprotein binding [Amigo]  protein binding
GOnucleus [Amigo]  nucleus
GOprotein amino acid phosphorylation [Amigo]  protein amino acid phosphorylation
GOcell surface receptor linked signal transduction [Amigo]  cell surface receptor linked signal transduction
GOnegative regulation of epidermal growth factor receptor activity [Amigo]  negative regulation of epidermal growth factor receptor activity
GOzinc ion binding [Amigo]  zinc ion binding
KEGGJak-STAT signaling pathway
KEGGT cell receptor signaling pathway
KEGGInsulin signaling pathway
PubGeneCBLC
TreeFamCBLC
CTD23624 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeCBLC Related clones (RZPD - Berlin)
PubMed
PubMed16 Pubmed reference(s) in LocusLink

Bibliography

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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-1999Olivier Rosnet

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. September 1999 .
URL : http://AtlasGeneticsOncology.org/Genes/CBLcID194.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 2 08:22:30 2008


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