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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).
Enzymes
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
2
Cytoband
p14
Chromosome location (bp)
64092652 - 64144420
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins 1,2,3,4. Involved in the TLR and IL-1 signaling pathways via interaction with the complex containing IRAK kinases and TRAF6 5,6. Acts as a positive regulator of inflammatory response in microglia through activation of NF-kappa-B and MAP kinase (By similarity). Mediates 'Lys-63'-linked polyubiquitination of IRAK1 allowing subsequent NF-kappa-B activation 7,8. Conjugates 'Lys-63'- linked ubiquitin chains to the adapter protein ASC/PYCARD, which in turn is crucial for NLRP3 inflammasome activation 9. Mediates 'Lys-48'-linked polyubiquitination of RIPK3 leading to its subsequent proteasome-dependent degradation; preferentially recognizes and mediates the degradation of the 'Thr-182' phosphorylated form of RIPK3 10. Negatively regulates necroptosis by reducing RIPK3 expression 11. Mediates 'Lys-63'-linked ubiquitination of RIPK1 12. Following phosphorylation by ATM, catalyzes 'Lys-63'-linked ubiquitination of NBN, promoting DNA repair via homologous recombination 13. Negatively regulates activation of the metabolic mTORC1 signaling pathway by mediating 'Lys-63'-linked ubiquitination of mTORC1-inhibitory protein TSC1 and thereby promoting TSC1/TSC2 complex stability 14....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.
DNA damage, DNA repair, Ubl conjugation pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
Enables ubiquitin protein ligase activity. Involved in several processes, including negative regulation of necroptotic process; protein polyubiquitination; and response to lipopolysaccharide. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]...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 Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000209[protein polyubiquitination] GO:0001819[positive regulation of cytokine production] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005829[cytosol] GO:0008592[regulation of Toll signaling pathway] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0030890[positive regulation of B cell proliferation] GO:0031398[positive regulation of protein ubiquitination] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032496[response to lipopolysaccharide] GO:0034141[positive regulation of toll-like receptor 3 signaling pathway] GO:0034145[positive regulation of toll-like receptor 4 signaling pathway] GO:0034450[ubiquitin-ubiquitin ligase activity] GO:0042098[T cell proliferation] GO:0042110[T cell activation] GO:0042130[negative regulation of T cell proliferation] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0043331[response to dsRNA] GO:0050868[negative regulation of T cell activation] GO:0050871[positive regulation of B cell activation] GO:0060544[regulation of necroptotic process] GO:0060546[negative regulation of necroptotic process] GO:0061630[ubiquitin protein ligase activity] GO:0070534[protein K63-linked ubiquitination] GO:0070936[protein K48-linked ubiquitination]
The Human Protein Atlas project is funded
