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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 Disease related genes Enzymes Human disease related genes Plasma proteins Potential drug targets
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
6
Cytoband
q23.3
Chromosome location (bp)
137867214 - 137883314
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities. Involved in immune and inflammatory responses signaled by cytokines, such as TNF-alpha and IL-1 beta, or pathogens via Toll-like receptors (TLRs) through terminating NF-kappa-B activity. Essential component of a ubiquitin-editing protein complex, comprising also RNF11, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. In cooperation with TAX1BP1 promotes disassembly of E2-E3 ubiquitin protein ligase complexes in IL-1R and TNFR-1 pathways; affected are at least E3 ligases TRAF6, TRAF2 and BIRC2, and E2 ubiquitin-conjugating enzymes UBE2N and UBE2D3. In cooperation with TAX1BP1 promotes ubiquitination of UBE2N and proteasomal degradation of UBE2N and UBE2D3. Upon TNF stimulation, deubiquitinates 'Lys-63'-polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF-or LPS-mediated activation of NF-kappa-B. Deubiquitinates TRAF6 probably acting on 'Lys-63'-linked polyubiquitin. Upon T-cell receptor (TCR)- mediated T-cell activation, deubiquitinates 'Lys-63'-polyubiquitin chains on MALT1 thereby mediating disassociation of the CBM (CARD11:BCL10:MALT1) and IKK complexes and preventing sustained IKK activation. Deubiquitinates NEMO/IKBKG; the function is facilitated by TNIP1 and leads to inhibition of NF-kappa-B activation. Upon stimulation by bacterial peptidoglycans, probably deubiquitinates RIPK2. Can also inhibit I-kappa-B-kinase (IKK) through a non-catalytic mechanism which involves polyubiquitin; polyubiquitin promotes association with IKBKG and prevents IKK MAP3K7-mediated phosphorylation. Targets TRAF2 for lysosomal degradation. In vitro able to deubiquitinate 'Lys-11'-, 'Lys-48'- and 'Lys-63' polyubiquitin chains. Inhibitor of programmed cell death. Has a role in the function of the lymphoid system. Required for LPS-induced production of pro-inflammatory cytokines and IFN beta in LPS-tolerized macrophages....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 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 Hydrolases Peptidases Cysteine-type peptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Allergies and autoimmune diseases Other immune system diseases Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0001922[B-1 B cell homeostasis] GO:0002020[protease binding] GO:0002237[response to molecule of bacterial origin] GO:0002634[regulation of germinal center formation] GO:0003677[DNA binding] GO:0003824[catalytic activity] GO:0004842[ubiquitin-protein transferase activity] GO:0004843[cysteine-type deubiquitinase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005829[cytosol] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0007010[cytoskeleton organization] GO:0008152[metabolic process] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0008270[zinc ion binding] GO:0010803[regulation of tumor necrosis factor-mediated signaling pathway] GO:0016477[cell migration] GO:0016567[protein ubiquitination] GO:0016579[protein deubiquitination] GO:0016740[transferase activity] GO:0016787[hydrolase activity] GO:0030177[positive regulation of Wnt signaling pathway] GO:0031397[negative regulation of protein ubiquitination] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032691[negative regulation of interleukin-1 beta production] GO:0032703[negative regulation of interleukin-2 production] GO:0032715[negative regulation of interleukin-6 production] GO:0032720[negative regulation of tumor necrosis factor production] GO:0034136[negative regulation of toll-like receptor 2 signaling pathway] GO:0034140[negative regulation of toll-like receptor 3 signaling pathway] GO:0034144[negative regulation of toll-like receptor 4 signaling pathway] GO:0035523[protein K29-linked deubiquitination] GO:0035871[protein K11-linked deubiquitination] GO:0042802[identical protein binding] GO:0043124[negative regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043130[ubiquitin binding] GO:0043621[protein self-association] GO:0045732[positive regulation of protein catabolic process] GO:0045779[negative regulation of bone resorption] GO:0045824[negative regulation of innate immune response] GO:0046872[metal ion binding] GO:0048662[negative regulation of smooth muscle cell proliferation] GO:0050691[regulation of defense response to virus by host] GO:0050728[negative regulation of inflammatory response] GO:0050869[negative regulation of B cell activation] GO:0061043[regulation of vascular wound healing] GO:0061578[Lys63-specific deubiquitinase activity] GO:0070062[extracellular exosome] GO:0070301[cellular response to hydrogen peroxide] GO:0070423[nucleotide-binding oligomerization domain containing signaling pathway] GO:0070530[K63-linked polyubiquitin modification-dependent protein binding] GO:0070536[protein K63-linked deubiquitination] GO:0070936[protein K48-linked ubiquitination] GO:0071108[protein K48-linked deubiquitination] GO:0071222[cellular response to lipopolysaccharide] GO:0071947[protein deubiquitination involved in ubiquitin-dependent protein catabolic process] GO:0072573[tolerance induction to lipopolysaccharide] GO:0090291[negative regulation of osteoclast proliferation] GO:1902042[negative regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:1990168[protein K33-linked deubiquitination] GO:2000349[negative regulation of CD40 signaling pathway] GO:2000352[negative regulation of endothelial cell apoptotic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Allergies and autoimmune diseases Other immune system diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
Q5VXR0 [Direct mapping] Tumor necrosis factor alpha-induced protein 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Allergies and autoimmune diseases Other immune system diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
Q5VXQ9 [Direct mapping] Tumor necrosis factor alpha-induced protein 3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Allergies and autoimmune diseases Other immune system diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Large Deletions COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Immune system diseases Allergies and autoimmune diseases Other immune system diseases Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001922[B-1 B cell homeostasis] GO:0002020[protease binding] GO:0002237[response to molecule of bacterial origin] GO:0002634[regulation of germinal center formation] GO:0002677[negative regulation of chronic inflammatory response] GO:0003677[DNA binding] GO:0003824[catalytic activity] GO:0004842[ubiquitin-protein transferase activity] GO:0004843[cysteine-type deubiquitinase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005829[cytosol] GO:0006508[proteolysis] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0007010[cytoskeleton organization] GO:0008022[protein C-terminus binding] GO:0008152[metabolic process] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0008270[zinc ion binding] GO:0010803[regulation of tumor necrosis factor-mediated signaling pathway] GO:0016477[cell migration] GO:0016567[protein ubiquitination] GO:0016579[protein deubiquitination] GO:0016740[transferase activity] GO:0016787[hydrolase activity] GO:0019900[kinase binding] GO:0030177[positive regulation of Wnt signaling pathway] GO:0031397[negative regulation of protein ubiquitination] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032495[response to muramyl dipeptide] GO:0032691[negative regulation of interleukin-1 beta production] GO:0032703[negative regulation of interleukin-2 production] GO:0032715[negative regulation of interleukin-6 production] GO:0032720[negative regulation of tumor necrosis factor production] GO:0034136[negative regulation of toll-like receptor 2 signaling pathway] GO:0034140[negative regulation of toll-like receptor 3 signaling pathway] GO:0034144[negative regulation of toll-like receptor 4 signaling pathway] GO:0034148[negative regulation of toll-like receptor 5 signaling pathway] GO:0035523[protein K29-linked deubiquitination] GO:0035871[protein K11-linked deubiquitination] GO:0042802[identical protein binding] GO:0043124[negative regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043130[ubiquitin binding] GO:0043621[protein self-association] GO:0045732[positive regulation of protein catabolic process] GO:0045736[negative regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0045779[negative regulation of bone resorption] GO:0045824[negative regulation of innate immune response] GO:0046872[metal ion binding] GO:0048662[negative regulation of smooth muscle cell proliferation] GO:0050691[regulation of defense response to virus by host] GO:0050728[negative regulation of inflammatory response] GO:0050869[negative regulation of B cell activation] GO:0060548[negative regulation of cell death] GO:0061043[regulation of vascular wound healing] GO:0061578[Lys63-specific deubiquitinase activity] GO:0070062[extracellular exosome] GO:0070301[cellular response to hydrogen peroxide] GO:0070423[nucleotide-binding oligomerization domain containing signaling pathway] GO:0070429[negative regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway] GO:0070433[negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway] GO:0070530[K63-linked polyubiquitin modification-dependent protein binding] GO:0070536[protein K63-linked deubiquitination] GO:0070936[protein K48-linked ubiquitination] GO:0071108[protein K48-linked deubiquitination] GO:0071222[cellular response to lipopolysaccharide] GO:0071947[protein deubiquitination involved in ubiquitin-dependent protein catabolic process] GO:0072573[tolerance induction to lipopolysaccharide] GO:0072666[establishment of protein localization to vacuole] GO:0090291[negative regulation of osteoclast proliferation] GO:1902042[negative regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:1990168[protein K33-linked deubiquitination] GO:2000347[positive regulation of hepatocyte proliferation] GO:2000349[negative regulation of CD40 signaling pathway] GO:2000352[negative regulation of endothelial cell apoptotic process]
The Human Protein Atlas project is funded
