Free for academic non-profit institutions. Other users need a Commercial license
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, and expansion of CGG repeats in the 5' UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]
CBL (Cbl Proto-Oncogene) is a Protein Coding gene. Diseases associated with CBL include Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia and Juvenile Myelomonocytic Leukemia. Among its related pathways are Association Between Physico-Chemical Features and Toxicity Associated Pathways and RET signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and ligase activity. An important paralog of this gene is CBLB.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001784 | phosphotyrosine residue binding | IEA | -- |
GO:0004842 | ubiquitin-protein transferase activity | IEA,TAS | 15465819 |
GO:0005154 | epidermal growth factor receptor binding | IEA | -- |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IEA,IPI | 5668240 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005794 | Golgi apparatus | IEA,IDA | 29237719 |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0005886 | plasma membrane | IDA,TAS | -- |
GO:0005925 | focal adhesion | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Negative regulation of FGFR3 signaling | ||
2 | Signaling by Ligand-Responsive EGFR Variants in Cancer | ||
3 | Listeria monocytogenes entry into host cells | ||
4 | Development EGFR signaling pathway |
Development EGFR signaling pathway
.51
Development ERBB-family signaling
.51
|
EGF Pathway
.41
|
5 | RANK Signaling in Osteoclasts |
RANK Signaling in Osteoclasts
.45
RANK Pathway
.38
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000209 | protein polyubiquitination | IEA | -- |
GO:0006511 | ubiquitin-dependent protein catabolic process | IMP | 25178484 |
GO:0006513 | protein monoubiquitination | IEA | -- |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
GO:0007165 | signal transduction | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Tyrosine | Approved, Investigational | Nutra | 1044 | |||
Phosphoric acid | Approved | Pharma | 0 | |||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 | ||
Calcium | Nutra | 6556 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chimpanzee (Pan troglodytes) |
Mammalia | CBL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CBL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CBL 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CBL 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cbl 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cbl 30 |
|
||
Chicken (Gallus gallus) |
Aves | CBL 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CBL 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cbl 30 |
|
||
Str.1437 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Cbl 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cbl 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9276 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cbl 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sli-1 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
180814 | Uncertain Significance: Rasopathy | 119,274,922(+) | C/T | MISSENSE_VARIANT | |
636476 | Uncertain Significance: not provided | 119,232,609(+) | G/A | MISSENSE_VARIANT | |
642713 | Uncertain Significance: Rasopathy | 119,278,207(+) | A/G | SYNONYMOUS_VARIANT | |
645711 | Uncertain Significance: Rasopathy | 119,278,625(+) | AG/A | FRAMESHIFT_VARIANT | |
646222 | Uncertain Significance: Rasopathy | 119,277,837(+) | T/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1143209 | CNV | insertion | 17803354 |
esv2519793 | CNV | insertion | 19546169 |
esv2665710 | CNV | deletion | 23128226 |
esv3397693 | CNV | insertion | 20981092 |
esv3579930 | CNV | loss | 25503493 |
esv3627888 | CNV | loss | 21293372 |
esv3627889 | CNV | loss | 21293372 |
esv3627890 | CNV | loss | 21293372 |
nsv1138079 | CNV | deletion | 24896259 |
nsv525043 | CNV | loss | 19592680 |
nsv528636 | CNV | gain | 19592680 |
nsv952746 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia |
|
|
juvenile myelomonocytic leukemia |
|
|
rasopathy |
|
|
ovarian germ cell cancer |
|
|
noonan syndrome 1 |
|