InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: CBL

Summary

InnateDB Gene

IDBG-74417.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CBL

Gene Name

Cbl proto-oncogene, E3 ubiquitin protein ligase

Synonyms

C-CBL; CBL2; FRA11B; NSLL; RNF55

Species

Homo sapiens

Ensembl Gene

ENSG00000110395

Encoded Proteins

IDBP-74419

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

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 21799517

CBL, an E3 ligase, has a crucial role in regulating dendritic cell maturation by facilitating the regulatory functions of NFKB1. (Demonstrated in mouse)

InnateDB Annotation from Orthologs

Summary

PMID 21799517

[Mus musculus] Cbl, an E3 ligase, has a crucial role in regulating dendritic cell maturation by facilitating the regulatory functions of Nfkb1.

Entrez Gene

Summary

This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Mar 2012]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 11:119206042-119308149

Strand

Forward strand

Band

q23.3

Transcripts

ENST00000264033

ENSP00000264033

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 365 experimentally validated interaction(s) in this database.
They are also associated with 52 interaction(s) predicted by orthology.

Experimentally validated
Total	365 [view]
Protein-Protein	364 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	52 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001784	phosphotyrosine binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0004842	ubiquitin-protein transferase activity
GO:0004871	signal transducer activity
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0016874	ligase activity
GO:0017124	SH3 domain binding
GO:0046872	metal ion binding
GO:0046875	ephrin receptor binding

Biological Process

GO:0006355	regulation of transcription, DNA-templated
GO:0007166	cell surface receptor signaling pathway
GO:0007173	epidermal growth factor receptor signaling pathway
GO:0007179	transforming growth factor beta receptor signaling pathway
GO:0008543	fibroblast growth factor receptor signaling pathway
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling
GO:0016567	protein ubiquitination
GO:0042059	negative regulation of epidermal growth factor receptor signaling pathway
GO:0043066	negative regulation of apoptotic process
GO:0045087	innate immune response (InnateDB)
GO:0048260	positive regulation of receptor-mediated endocytosis

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0016600	flotillin complex

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000034342

View Gene Order

ENSBTAG00000006817

Not yet available

Pathways

NETPATH

EGFR1 pathway

KitReceptor pathway

TCR pathway

BCR pathway

IL2 pathway

IL3 pathway

IL4 pathway

IL5 pathway

IL6 pathway

RANKL pathway

Prolactin pathway

REACTOME

REACT_27307

Interleukin-6 signaling pathway

REACT_23787

Regulation of signaling by CBL pathway

REACT_23837

Interleukin-3, 5 and GM-CSF signaling pathway

REACT_118700

Antigen activates B Cell Receptor (BCR) leading to generation of second messengers pathway

REACT_12484

EGFR downregulation pathway

REACT_9417

Signaling by EGFR pathway

REACT_120850

TGF-beta receptor signaling activates SMADs pathway

REACT_111080

Spry regulation of FGF signaling pathway

REACT_111184

Negative regulation of FGFR signaling pathway

REACT_9470

Signaling by FGFR pathway

REACT_111225

Regulation of KIT signaling pathway

REACT_111040

Signaling by SCF-KIT pathway

REACT_115852

Signaling by constitutively active EGFR pathway

REACT_120736

Signaling by FGFR in disease pathway

REACT_169107

SMAD4 MH2 Domain Mutants in Cancer pathway

REACT_115871

Signaling by EGFR in Cancer pathway

REACT_169219

Loss of Function of SMAD4 in Cancer pathway

REACT_169398

Loss of Function of SMAD2/3 in Cancer pathway

REACT_169122

Signaling by TGF-beta Receptor Complex in Cancer pathway

REACT_75790

Cytokine Signaling in Immune system pathway

REACT_169192

TGFBR2 MSI Frameshift Mutants in Cancer pathway

REACT_111102

Signal Transduction pathway

REACT_169165

SMAD2/3 MH2 Domain Mutants in Cancer pathway

REACT_169435

Loss of Function of TGFBR2 in Cancer pathway

REACT_75774

Adaptive Immune System pathway

REACT_6900

Immune System pathway

REACT_169103

SMAD2/3 Phosphorylation Motif Mutants in Cancer pathway

REACT_22232

Signaling by Interleukins pathway

REACT_169263

TGFBR1 KD Mutants in Cancer pathway

REACT_169311

Loss of Function of TGFBR1 in Cancer pathway

REACT_169445

TGFBR1 LBD Mutants in Cancer pathway

REACT_169440

TGFBR2 Kinase Domain Mutants in Cancer pathway

REACT_118773

Signaling by the B Cell Receptor (BCR) pathway

REACT_116125

Disease pathway

REACT_6844

Signaling by TGF-beta Receptor Complex pathway

KEGG

hsa04012

ErbB signaling pathway pathway

hsa04120

Ubiquitin mediated proteolysis pathway

hsa04910

Insulin signaling pathway pathway

hsa04660

T cell receptor signaling pathway pathway

hsa04630

Jak-STAT signaling pathway pathway

hsa05220

Chronic myeloid leukemia pathway

hsa04144

Endocytosis pathway

hsa05200

Pathways in cancer pathway

hsa05100

Bacterial invasion of epithelial cells pathway

INOH

INOH website

GPCR Adenosine A2A receptor signaling pathway pathway

INOH website

GPCR signaling pathway

PID NCI

epha_fwdpathway

EPHA forward signaling

cd8tcrpathway

TCR signaling in na�ve CD8+ T cells

met_pathway

Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)

il8cxcr2_pathway

IL8- and CXCR2-mediated signaling events

reelinpathway

Reelin signaling pathway

il8cxcr1_pathway

IL8- and CXCR1-mediated signaling events

tcr_pathway

TCR signaling in na�ve CD4+ T cells

avb3_integrin_pathway

Integrins in angiogenesis

erbb1_internalization_pathway

Internalization of ErbB1

epopathway

EPO signaling pathway

fgf_pathway

FGF signaling pathway

kitpathway

Signaling events mediated by Stem cell factor receptor (c-Kit)

il4_2pathway

IL4-mediated signaling events

cdc42_pathway

CDC42 signaling events

vegfr1_2_pathway

Signaling events mediated by VEGFR1 and VEGFR2

epha2_fwdpathway

EPHA2 forward signaling

fcer1pathway

Fc-epsilon receptor I signaling in mast cells

vegfr1_pathway

VEGFR1 specific signals

pdgfrbpathway

PDGFR-beta signaling pathway

insulin_pathway

Insulin Pathway

ifngpathway

IFN-gamma pathway

notch_pathway

Notch signaling pathway

Cross-References

SwissProt

P22681

TrEMBL

UniProt Splice Variant

Entrez Gene

867

UniGene

Hs.504096

RefSeq

NM_005188

HUGO

HGNC:1541

OMIM

165360

CCDS

CCDS8418

HPRD

IMGT

EMBL

AP002956 BC132733 BC136463 X57110

GenPept

AAI32734 AAI36464 CAA40393

RNA Seq Atlas

867