CBL


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, 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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
OMIM IDMIM:165360
PHARMGKB IDPA26115
Map Location11q23.3

GO terms in CBL


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Term Type
Evidence Type
GO Term ID
GO Des.
MF IEA GO:0001784 phosphotyrosine residue binding
MF TAS GO:0003700 DNA-binding transcription factor activity
MF TAS GO:0004842 ubiquitin-protein transferase activity
MF IEA GO:0005154 epidermal growth factor receptor binding
MF IEA GO:0005509 calcium ion binding
MF IPI GO:0005515 protein binding
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Gene expression in normal tissue: CBL

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

undefined25Apoptosis regulation2p53 pathway1RTK signaling1Terpenoid backbone biosynthesis1VEGF signaling pathway1One carbon pool by folate1Protein stability and degradation1Chromatin histone acetylation1DNA replication1

Pathways in CBL


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Database
Pathway ID
Pathway Des.
wikipathways WP2018 RANKL-RANK (Receptor activator of NFKB (ligand)) Signaling Pathway
wikipathways WP2037 Prolactin Signaling Pathway
wikipathways WP2261 Signaling Pathways in Glioblastoma
wikipathways WP23 B Cell Receptor Signaling Pathway
wikipathways WP2512 Integrated Lung Cancer Pathway
wikipathways WP2593 JAK-STAT
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD202 Curcumin 3
iGMDRD103 SN-38 3
iGMDRD5 Tyrphostin AG 1478 6
iGMDRD192 CIL56 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CBL

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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