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

Identity

Other namesCBLc
CBL-3
HGNC (Hugo) CBLC
LocusID (NCBI) 23624
Location 19q13.32
Location_base_pair Starts at 45281126 and ends at 45303903 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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
HGNC (Hugo)CBLC   15961
Entrez_Gene (NCBI)CBLC  23624  Cbl proto-oncogene, E3 ubiquitin protein ligase C
Cards
AtlasCBLcID194
GeneCards (Weizmann)CBLC
Ensembl (Hinxton)ENSG00000142273 [Gene_View]  chr19:45281126-45303903 [Contig_View]  CBLC [Vega]
AceView (NCBI)CBLC
Genatlas (Paris)CBLC
SOURCE (Stanford)NM_001130852 NM_012116
Genomic and cartography
GoldenPath (UCSC)CBLC  -  19q13.32   chr19:45281126-45303903 +  19q13.2   [Description]    (hg19-Feb_2009)
EnsemblCBLC - 19q13.2 [CytoView]
Mapping of homologs : NCBICBLC [Mapview]
OMIM608453   
Gene and transcription
Genbank (Entrez)AB028645 AF117646 AF117647 BC028915 BF835530
RefSeq transcript (SRS)NM_001130852 NM_012116
RefSeq transcript (Entrez)NM_001130852 NM_012116
RefSeq genomic (SRS)AC_000151 NC_000019 NC_018930 NT_011109 NW_001838496 NW_004078099
RefSeq genomic (Entrez)AC_000151 NC_000019 NC_018930 NT_011109 NW_001838496 NW_004078099
Consensus coding sequences : CCDS (NCBI)CBLC
Cluster EST : UnigeneHs.466907 [ SRS ] Hs.466907 [ NCBI ]
CGAP (NCI)Hs.466907
Alternative Splicing : Fast-db (Paris)GSHG0014995
Alternative Splicing GalleryENSG00000142273
Gene ExpressionCBLC [ NCBI-GEO ]   CBLC [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULV8 (SRS) Q9ULV8 (Uniprot)
NextProtQ9ULV8
With graphics : InterProQ9ULV8
Splice isoforms : SwissVarQ9ULV8(Swissvar)
Domaine pattern : Prosite (SRS)CBL_PTB (PS51506)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domaine pattern : Prosite (Expaxy)CBL_PTB (PS51506)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (SRS)Adaptor_Cbl    Adaptor_Cbl_EF_hand-like    Adaptor_Cbl_N_hlx    Adaptor_Cbl_SH2-like    Cbl_PTB    EF-hand-like_dom    SH2    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS   
Domains : Interpro (EBI)Adaptor_Cbl    Adaptor_Cbl_EF_hand-like    Adaptor_Cbl_N_hlx    Adaptor_Cbl_SH2-like    Cbl_PTB    EF-hand-like_dom    SH2    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS   
Related proteins : CluSTrQ9ULV8
Domain families : Pfam (SRS)Cbl_N (PF02262)    Cbl_N2 (PF02761)    Cbl_N3 (PF02762)   
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)  
DMDM23624
Blocks (Seattle)Q9ULV8
PDB (SRS)3OP0   
PDB (PDBSum)3OP0   
PDB (IMB)3OP0   
PDB (RSDB)3OP0   
Human Protein AtlasENSG00000142273
HPRD09765
IPIIPI00008459   IPI00220418   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULV8
IntAct (EBI)Q9ULV8
FunCoupENSG00000142273
REACTOMECBLC
Protein Interaction Database23624
BioGRIDCBLC
InParanoidQ9ULV8
Interologous Interaction database Q9ULV8
IntegromeDBCBLC
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CBLC
SNP (GeneSNP Utah)CBLC
SNP : HGBaseCBLC
Genetic variants : HAPMAPCBLC
Cancer Gene: CensusCBLC 
Somatic Mutations in Cancer : COSMICCBLC 
CONAN: Copy Number AnalysisCBLC 
Mutations and Diseases : HGMDCBLC
OMIM608453   
GENETests608453   
Disease Genetic AssociationCBLC
Huge Navigator CBLC [HugePedia]  CBLC [HugeCancerGEM]
Genomic VariantsCBLC  CBLC [DGVbeta]
snp3D : Map Gene to Disease23624
General knowledge
Homologs : HomoloGeneCBLC
Homology/Alignments : Family Browser (UCSC)CBLC
Phylogenetic Trees/Animal Genes : TreeFamCBLC
Chemical/Protein Interactions : CTD23624
Chemical/Pharm GKB GenePA26117
Clinical trialCBLC
Cancer Resource (Charite)ENSG00000142273
Ontology : AmiGOphosphotyrosine binding  ubiquitin-protein ligase activity  signal transducer activity  epidermal growth factor receptor binding  calcium ion binding  nucleus  cell surface receptor signaling pathway  negative regulation of epidermal growth factor-activated receptor activity  zinc ion binding  SH3 domain 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  
Ontology : EGO-EBIphosphotyrosine binding  ubiquitin-protein ligase activity  signal transducer activity  epidermal growth factor receptor binding  calcium ion binding  nucleus  cell surface receptor signaling pathway  negative regulation of epidermal growth factor-activated receptor activity  zinc ion binding  SH3 domain 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  
Pathways : KEGGJak-STAT signaling pathwayT cell receptor signaling pathwayInsulin signaling pathway
Other databases
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
PubGeneCBLC
iHOPCBLC

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

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37530/1/09-1999-CBLcID194.pdf   [ Bibliographic record ]

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indexed on : Wed May 1 13:11:36 CEST 2013
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