Human Gene CBLC (ENST00000647358.2_5) from GENCODE V47lift37
  Description: Cbl proto-oncogene C, transcript variant 1 (from RefSeq NM_012116.4)
Gencode Transcript: ENST00000647358.2_5
Gencode Gene: ENSG00000142273.13_10
Transcript (Including UTRs)
   Position: hg19 chr19:45,281,147-45,303,909 Size: 22,763 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr19:45,281,189-45,303,700 Size: 22,512 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:45,281,147-45,303,909)mRNA (may differ from genome)Protein (474 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CBLC_HUMAN
DESCRIPTION: RecName: Full=Signal transduction protein CBL-C; AltName: Full=RING finger protein 57; AltName: Full=SH3-binding protein CBL-3; AltName: Full=SH3-binding protein CBL-C;
FUNCTION: Regulator of EGFR mediated signal transduction.
SUBUNIT: Interacts with EGFR (tyrosine phosphorylated). Interacts with a restricted range of SH3 domain proteins.
SUBCELLULAR LOCATION: Nucleus (Potential).
TISSUE SPECIFICITY: Ubiquitous.
DOMAIN: The N-terminus is composed of the phosphotyrosine binding (PTB) domain, a short linker region and the RING-type zinc finger. The PTB domain, which is also called TKB (tyrosine kinase binding) domain, is composed of three different subdomains: a four-helix bundle (4H), a calcium-binding EF hand and a divergent SH2 domain.
DOMAIN: The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme (By similarity).
PTM: Phosphorylated on tyrosines by EGFR.
MISCELLANEOUS: This protein has one functional calcium-binding site (By similarity).
SIMILARITY: Contains 1 Cbl-PTB (Cbl-type phosphotyrosine-binding) domain.
SIMILARITY: Contains 1 RING-type zinc finger.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/CBLcID194.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.7042-0.231 Picture PostScript Text
3' UTR -32.80109-0.301 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR024162 - Adaptor_Cbl
IPR014741 - Adaptor_Cbl_EF_hand-like
IPR003153 - Adaptor_Cbl_N_hlx
IPR014742 - Adaptor_Cbl_SH2-like
IPR024159 - Cbl_PTB
IPR011992 - EF-hand-like_dom
IPR000980 - SH2
IPR001841 - Znf_RING
IPR013083 - Znf_RING/FYVE/PHD
IPR017907 - Znf_RING_CS

Pfam Domains:
PF00097 - Zinc finger, C3HC4 type (RING finger)
PF02262 - CBL proto-oncogene N-terminal domain 1
PF02761 - CBL proto-oncogene N-terminus, EF hand-like domain
PF02762 - CBL proto-oncogene N-terminus, SH2-like domain
PF13920 - Zinc finger, C3HC4 type (RING finger)
PF14447 - Prokaryotic RING finger family 4

SCOP Domains:
47473 - EF-hand
47668 - N-terminal domain of cbl (N-cbl)
55550 - SH2 domain
57850 - RING/U-box

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3OP0 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9ULV8
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001784 phosphotyrosine binding
GO:0004842 ubiquitin-protein transferase activity
GO:0005154 epidermal growth factor receptor binding
GO:0005509 calcium ion binding
GO:0008270 zinc ion binding
GO:0016740 transferase activity
GO:0017124 SH3 domain binding
GO:0030971 receptor tyrosine kinase binding
GO:0046872 metal ion binding
GO:0061630 ubiquitin protein ligase activity

Biological Process:
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0007166 cell surface receptor signaling pathway
GO:0007175 negative regulation of epidermal growth factor-activated receptor activity
GO:0016567 protein ubiquitination
GO:0023051 regulation of signaling
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathway
GO:0043407 negative regulation of MAP kinase activity

Cellular Component:
GO:0005886 plasma membrane
GO:0045121 membrane raft


-  Descriptions from all associated GenBank mRNAs
  AF117646 - Homo sapiens long CBL-3 protein (CBL-3) mRNA, alternatively spliced isoform, complete cds.
AF117647 - Homo sapiens short CBL-3 protein (CBL-3) mRNA, alternatively spliced isoform, complete cds.
AB028645 - Homo sapiens mRNA for Cbl-c, complete cds.
BC028915 - Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c, mRNA (cDNA clone MGC:24886 IMAGE:4777669), complete cds.
AB527766 - Synthetic construct DNA, clone: pF1KB5813, Homo sapiens CBLC gene for Cas-Br-M (murine) ecotropic retroviral transforming sequence c, without stop codon, in Flexi system.
DQ891243 - Synthetic construct clone IMAGE:100003873; FLH170965.01X; RZPDo839D07100D Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC) gene, encodes complete protein.
DQ894493 - Synthetic construct Homo sapiens clone IMAGE:100008953; FLH170961.01L; RZPDo839D0799D Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC) gene, encodes complete protein.
CU688574 - Synthetic construct Homo sapiens gateway clone IMAGE:100018329 5' read CBLC mRNA.
KJ898524 - Synthetic construct Homo sapiens clone ccsbBroadEn_07918 CBLC gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: CBL3, CBLC_HUMAN, ENST00000647358.1, NM_012116, Q8N1E5, Q9ULV8, Q9Y5Z2, Q9Y5Z3, RNF57, uc328nkp.1, uc328nkp.2
UCSC ID: ENST00000647358.2_5
RefSeq Accession: NM_012116.4
Protein: Q9ULV8 (aka CBLC_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.