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

Identity

Other namesCBL-3
HGNC (Hugo) CBLC
Location 19q13.2
Location_base_pair Starts at 49972966 and ends at 49995742 bp from pter ( according to hg18-Mar_2006)  [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  Cas-Br-M (murine) ecotropic retroviral transforming sequence c
Cards
AtlasCBLcID194
GeneCards (Weizmann)CBLC
Ensembl (Hinxton)ENSG00000142273 [Gene_View]  CBLC [Vega]
AceView (NCBI)CBLC
Genatlas (Paris)CBLC
euGene (Indiana)23624
SOURCE (Stanford)NM_001130852 NM_012116
Gene Expression (Array Express) ENSG00000142273
Genomic and cartography
GoldenPath (UCSC)CBLC  -  19q13.2   chr19:49972966-49995742 +  19q13.2   [Description]    (hg18-Mar_2006)
EnsemblCBLC - 19q13.2 [CytoView]
Mapping of homologs : NCBICBLC [Mapview]
OMIM608453   
Gene and transcription
Gene : Genbank (Entrez)AB028645 AF117646 AF117647 BC028915 BF835530
Reference sequence (RefSeq transcript) :SRSNM_001130852 NM_012116
Reference transcript : EntrezNM_001130852 NM_012116
RefSeq genomic : SRSAC_000062 AC_000151 NC_000019 NT_011109 NW_001838496 NW_927217
RefSeq genomic : EntrezAC_000062 AC_000151 NC_000019 NT_011109 NW_001838496 NW_927217
Consensus coding sequences : CCDS NCBICBLC
Cluster EST : UnigeneHs.466907 [ SRS ] Hs.466907 [ NCBI ]
Alternative Splicing : Fast-db (Paris)13210
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ9ULV8 (SRS) Q9ULV8 (Expasy) Q9ULV8 (Uniprot)
With graphics : InterProQ9ULV8
Splice isoforms : VarSplice FASTAQ9ULV8(VarSplice FASTA)
Domaine pattern : Prosite (SRS)SH2 (PS50001)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domain pattern : Prosite (Expaxy)SH2 (PS50001)    ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (SRS)Adaptor_Cbl_EF_Hand-like    Adaptor_Cbl_N    Adaptor_Cbl_SH2-like    EF-hand-like_dom    SH2    Znf_C3HC4_RING-type    Znf_RING    Znf_RING_CS   
Domains : Interpro (EBI)Adaptor_Cbl_EF_Hand-like    Adaptor_Cbl_N    Adaptor_Cbl_SH2-like    EF-hand-like_dom    SH2    Znf_C3HC4_RING-type    Znf_RING    Znf_RING_CS   
Related proteins : CluSTrQ9ULV8
Domain families : Pfam SRSCbl_N (PF02262)    Cbl_N2 (PF02761)    Cbl_N3 (PF02762)    zf-C3HC4 (PF00097)   
Domain families : Pfam SangerCbl_N (PF02262)    Cbl_N2 (PF02761)    Cbl_N3 (PF02762)    zf-C3HC4 (PF00097)   
Domain families : Pfam NCBIpfam02262    pfam02761    pfam02762    pfam00097   
Domain families : Smart EMBLRING (SM00184)  SH2 (SM00252)  
Blocks (Seattle)Q9ULV8
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD09765
Protein Interaction databases
DIP (DOE-UCLA)Q9ULV8
IntAct (EBI)Q9ULV8
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBICBLC
SNP : GeneSNP UtahCBLC
SNP : HGBaseCBLC
Genetic variants : HAPMAPCBLC
Cancer Gene: CensusCBLC 
Somatic Mutations in Cancer : COSMICCBLC 
Mutations and Diseases : HGMDCBLC
Hereditary diseases : OMIM608453   
Hereditary diseases : GENETests608453   
Diseases : Genetic AssociationCBLC
General knowledge
Homologs : HomoloGeneCBLC
Homology/Alignments : Family Browser UCSCCBLC
Phylogenetic Trees/Animal Genes : TreeFamCBLC
Chemical/Protein Interactions : CTD23624
Keywords Ontology : AmiGOphosphotyrosine binding  ubiquitin-protein ligase activity  signal transducer activity  epidermal growth factor receptor binding  calcium ion binding  protein binding  nucleus  cell surface receptor linked signal transduction  negative regulation of epidermal growth factor receptor activity  zinc ion binding  SH3 domain binding  protein ubiquitination during ubiquitin-dependent protein catabolic process  negative regulation of MAP kinase activity  
Keywords Ontology : EGO-EBIphosphotyrosine binding  ubiquitin-protein ligase activity  signal transducer activity  epidermal growth factor receptor binding  calcium ion binding  protein binding  nucleus  cell surface receptor linked signal transduction  negative regulation of epidermal growth factor receptor activity  zinc ion binding  SH3 domain binding  protein ubiquitination during ubiquitin-dependent protein catabolic process  negative regulation of MAP kinase activity  
Pathways : BIOCARTA
Pathways : KEGGJak-STAT signaling pathwayT cell receptor signaling pathwayInsulin signaling pathway
Other databases
Probes
Probes : ImagenesCBLC Related clones (RZPD - Berlin)
Literature
PubMed16 Pubmed reference(s) in Entrez
PubGeneCBLC

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

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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

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indexed on : Sat Feb 27 10:54:55 CET 2010

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