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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Enzymes Metabolic proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
q13.32
Chromosome location (bp)
44777869 - 44800652
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Acts as an E3 ubiquitin-protein ligase, which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their degradation by the proteasome. Functionally coupled with the E2 ubiquitin-protein ligases UB2D1, UB2D2 and UB2D3. Regulator of EGFR mediated signal transduction; upon EGF activation, ubiquitinates EGFR. Isoform 1, but not isoform 2, inhibits EGF stimulated MAPK1 activation. Promotes ubiquitination of SRC phosphorylated at 'Tyr-419'. In collaboration with CD2AP may act as regulatory checkpoint for Ret signaling by modulating the rate of RET degradation after ligand activation; CD2AP converts it from an inhibitor to a promoter of RET degradation; the function limits the potency of GDNF on neuronal survival....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Transferase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Ubl conjugation pathway
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0001784[phosphotyrosine residue binding] GO:0004842[ubiquitin-protein transferase activity] GO:0005154[epidermal growth factor receptor binding] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0007165[signal transduction] GO:0007166[cell surface receptor signaling pathway] GO:0007175[negative regulation of epidermal growth factor-activated receptor activity] GO:0008270[zinc ion binding] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0017124[SH3 domain binding] GO:0023051[regulation of signaling] GO:0030971[receptor tyrosine kinase binding] GO:0042059[negative regulation of epidermal growth factor receptor signaling pathway] GO:0043407[negative regulation of MAP kinase activity] GO:0045121[membrane raft] GO:0046872[metal ion binding] GO:0061630[ubiquitin protein ligase activity]
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001784[phosphotyrosine residue binding] GO:0004842[ubiquitin-protein transferase activity] GO:0005154[epidermal growth factor receptor binding] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005886[plasma membrane] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0007165[signal transduction] GO:0007166[cell surface receptor signaling pathway] GO:0007175[negative regulation of epidermal growth factor-activated receptor activity] GO:0008270[zinc ion binding] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0017124[SH3 domain binding] GO:0023051[regulation of signaling] GO:0030971[receptor tyrosine kinase binding] GO:0042059[negative regulation of epidermal growth factor receptor signaling pathway] GO:0043407[negative regulation of MAP kinase activity] GO:0045121[membrane raft] GO:0046872[metal ion binding] GO:0061630[ubiquitin protein ligase activity]
The Human Protein Atlas project is funded
