Expression of CBL in cancer - Summary - The Human Protein Atlas

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 category

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Expressed in all
HPA (normal tissue):	Mixed

Protein evidence

Evidence at protein level

Protein expression
normal tissue

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

ANTIBODY IHC 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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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Expressed in all

PROTEIN EXPRESSION

STAINING SUMMARY

HPA027956	CAB004350

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 Show all	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] Show all	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