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CBL

GENERAL INFORMATION

Gene name

 CBL

Gene description

 Cbl proto-oncogene, E3 ubiquitin protein ligase

Protein class

 Cancer-related genes
Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in spermatogonia, subsets of immune cells and lymphoid tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data. Paired antibodies with high similarity supports the protein profile.

Reliability score

 Supported based on 2 antibodies.
HPA027956 , CAB004350
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Tonsil

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 CBL (HGNC Symbol)

Synonyms

 c-Cbl, CBL2, RNF55

Description

 Cbl proto-oncogene, E3 ubiquitin protein ligase (HGNC Symbol)

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]

Chromosome

 11

Cytoband

 q23.3

Chromosome location (bp)

 119206276 - 119308149

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000110395 (version 83.38)

Entrez gene

 867

UniProt

 P22681 (UniProt - Evidence at protein level)

neXtProt

 NX_P22681

Antibodypedia

 CBL antibodies

PROTEIN BROWSER
CBL-001
CBL-002
CBL-003
CBL-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CBL-001
ENSP00000264033
ENST00000264033
P22681 [Direct mapping]
E3 ubiquitin-protein ligase CBL
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Predicted intracellular proteins
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001784 [phosphotyrosine binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0004842 [ubiquitin-protein transferase activity]
GO:0004871 [signal transducer activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
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:0008270 [zinc ion binding]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0014068 [positive regulation of phosphatidylinositol 3-kinase signaling]
GO:0016567 [protein ubiquitination]
GO:0016600 [flotillin complex]
GO:0016874 [ligase activity]
GO:0017124 [SH3 domain binding]
GO:0019901 [protein kinase binding]
GO:0042059 [negative regulation of epidermal growth factor receptor signaling pathway]
GO:0042787 [protein ubiquitination involved in ubiquitin-dependent protein catabolic process]
GO:0043066 [negative regulation of apoptotic process]
GO:0046875 [ephrin receptor binding]
GO:0048260 [positive regulation of receptor-mediated endocytosis]
GO:0061630 [ubiquitin protein ligase activity]
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 906 aa
99.6 kDa 		No 0
CBL-002
ENSP00000489218
ENST00000634586
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001784 [phosphotyrosine binding]
GO:0004871 [signal transducer activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0007166 [cell surface receptor signaling pathway]
GO:0008270 [zinc ion binding]
Show all
 882 aa
96.9 kDa 		No 0
CBL-003
ENSP00000489324
ENST00000634840
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001784 [phosphotyrosine binding]
GO:0004871 [signal transducer activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0007166 [cell surface receptor signaling pathway]
GO:0008270 [zinc ion binding]
Show all
 862 aa
95.1 kDa 		No 0
CBL-004
ENSP00000489556
ENST00000634301
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Other Mutations
   COSMIC Missense Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
 89 aa
9.5 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.