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GENE AND PROTEIN SUMMARY

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Gene name

CBL

Description

Cbl proto-oncogene, E3 ubiquitin protein ligase

Protein class

Candidate cancer biomarkers, Mapped to UniProt SWISS-PROT, Mutated genes in cancer

Protein evidence

High

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

1 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoplasm

Additional location(s)

 

Staining summary

Localized to the cytoplasm.

Reliability (APE)

Medium

Antibodies in assay

CAB004350, HPA027956
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic expression in selected tissues, most abundant in lymphoid tissues.

Tissue specificity

Expressed in 26 out of 80 cell types

Reliability (APE)

High

Antibodies in assay

CAB004350, HPA027956
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 37% of the cancers

Antibodies in assay

CAB004350, HPA027956
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB004350

HPA027956

CAB004350

HPA027956

A-431 Skin Medium
Weak
A-549 Lung Medium
CACO-2 Colon Medium
HEK 293 Embryonal kidney Low
HeLa Cervix Low
Hep-G2 Liver Low
MCF-7 Pleural effusion Medium
PC-3 Bone marrow Medium
RT-4 Urinary bladder Medium
U-2 OS Bone Medium
NegativeWeak
U-251 MG Brain Medium
NegativeWeak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB004350 mAb
HPA027956 pAb