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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).
Disease related genes Enzymes Human disease related genes Metabolic 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
20
Cytoband
q11.22
Chromosome location (bp)
34363235 - 34511773
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 an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16. Catalyzes 'Lys-29'-, 'Lys-48'- and 'Lys-63'-linked ubiquitin conjugation 17,18,19,20. Involved in the control of inflammatory signaling pathways 21. Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, TAX1BP1 and RNF11, that ensures the transient nature of inflammatory signaling pathways 22. Promotes the association of the complex after TNF stimulation 23. Once the complex is formed, TNFAIP3 deubiquitinates 'Lys-63' polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains 24. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF-or LPS-mediated activation of NFKB1 25. Ubiquitinates RIPK2 by 'Lys-63'-linked conjugation and influences NOD2-dependent signal transduction pathways 26. Regulates the transcriptional activity of several transcription factors, and probably plays an important role in the regulation of immune response 27,28. Ubiquitinates NFE2 by 'Lys-63' linkages and is implicated in the control of the development of hematopoietic lineages 29. Mediates JUN ubiquitination and degradation (By similarity). Mediates JUNB ubiquitination and degradation 30. Critical regulator of type 2 helper T (Th2) cell cytokine production by inducing JUNB ubiquitination and degradation (By similarity). Involved in the negative regulation of MAVS-dependent cellular antiviral responses 31. Ubiquitinates MAVS through 'Lys-48'-linked conjugation resulting in MAVS proteasomal degradation 32. Following ligand stimulation, regulates sorting of Wnt receptor FZD4 to the degradative endocytic pathway probably by modulating PI42KA activity 33. Ubiquitinates PI4K2A and negatively regulates its catalytic activity 34. Ubiquitinates chemokine receptor CXCR4 and regulates sorting of CXCR4 to the degradative endocytic pathway following ligand stimulation by ubiquitinating endosomal sorting complex required for transport ESCRT-0 components HGS and STAM 35,36,37. Targets DTX1 for lysosomal degradation and controls NOTCH1 degradation, in the absence of ligand, through 'Lys-29'-linked polyubiquitination 38,39,40. Ubiquitinates SNX9 41. Ubiquitinates MAP3K7 through 'Lys-48'-linked conjugation (By similarity). Involved in the regulation of apoptosis and reactive oxygen species levels through the ubiquitination and proteasomal degradation of TXNIP 42. Mediates the antiapoptotic activity of epidermal growth factor through the ubiquitination and proteasomal degradation of p15 BID 43. Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 44. Inhibits the replication of influenza A virus (IAV) via ubiquitination of IAV matrix protein 1 (M1) through 'Lys-48'-linked conjugation resulting in M1 proteasomal degradation 45. Ubiquitinates NEDD9/HEF1, resulting in proteosomal degradation of NEDD9/HEF1 46....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.
This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Enzymes ENZYME proteins Transferases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Immune system diseases Allergies and autoimmune 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:0000209[protein polyubiquitination] GO:0001558[regulation of cell growth] GO:0002376[immune system process] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005769[early endosome] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006513[protein monoubiquitination] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0010008[endosome membrane] GO:0016020[membrane] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0019787[ubiquitin-like protein transferase activity] GO:0031410[cytoplasmic vesicle] GO:0031901[early endosome membrane] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032480[negative regulation of type I interferon production] GO:0032991[protein-containing complex] GO:0035519[protein K29-linked ubiquitination] GO:0043021[ribonucleoprotein complex binding] GO:0043066[negative regulation of apoptotic process] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0043231[intracellular membrane-bounded organelle] GO:0044389[ubiquitin-like protein ligase binding] GO:0045087[innate immune response] GO:0045236[CXCR chemokine receptor binding] GO:0046329[negative regulation of JNK cascade] GO:0046718[viral entry into host cell] GO:0050687[negative regulation of defense response to virus] GO:0051607[defense response to virus] GO:0051865[protein autoubiquitination] GO:0061630[ubiquitin protein ligase activity] GO:0070062[extracellular exosome] GO:0070423[nucleotide-binding oligomerization domain containing signaling pathway] GO:0070534[protein K63-linked ubiquitination] GO:0070936[protein K48-linked ubiquitination] GO:0090085[regulation of protein deubiquitination] GO:1902036[regulation of hematopoietic stem cell differentiation] GO:1990763[arrestin family protein binding] GO:2000646[positive regulation of receptor catabolic process]
Enzymes ENZYME proteins Transferases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Immune system diseases Allergies and autoimmune 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:0000209[protein polyubiquitination] GO:0001558[regulation of cell growth] GO:0002376[immune system process] GO:0002669[positive regulation of T cell anergy] GO:0002870[T cell anergy] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005769[early endosome] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005938[cell cortex] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006513[protein monoubiquitination] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0010008[endosome membrane] GO:0016020[membrane] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0016874[ligase activity] GO:0019787[ubiquitin-like protein transferase activity] GO:0030163[protein catabolic process] GO:0031410[cytoplasmic vesicle] GO:0031901[early endosome membrane] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032480[negative regulation of type I interferon production] GO:0032991[protein-containing complex] GO:0035519[protein K29-linked ubiquitination] GO:0035739[CD4-positive, alpha-beta T cell proliferation] GO:0043021[ribonucleoprotein complex binding] GO:0043066[negative regulation of apoptotic process] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0043231[intracellular membrane-bounded organelle] GO:0044389[ubiquitin-like protein ligase binding] GO:0045087[innate immune response] GO:0045236[CXCR chemokine receptor binding] GO:0045732[positive regulation of protein catabolic process] GO:0046329[negative regulation of JNK cascade] GO:0046718[viral entry into host cell] GO:0050687[negative regulation of defense response to virus] GO:0051607[defense response to virus] GO:0051865[protein autoubiquitination] GO:0061630[ubiquitin protein ligase activity] GO:0070062[extracellular exosome] GO:0070423[nucleotide-binding oligomerization domain containing signaling pathway] GO:0070534[protein K63-linked ubiquitination] GO:0070936[protein K48-linked ubiquitination] GO:0090085[regulation of protein deubiquitination] GO:1902036[regulation of hematopoietic stem cell differentiation] GO:1990763[arrestin family protein binding] GO:2000562[negative regulation of CD4-positive, alpha-beta T cell proliferation] GO:2000646[positive regulation of receptor catabolic process]
Enzymes ENZYME proteins Transferases Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000209[protein polyubiquitination] GO:0001558[regulation of cell growth] GO:0002376[immune system process] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005769[early endosome] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006513[protein monoubiquitination] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0010008[endosome membrane] GO:0016020[membrane] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0019787[ubiquitin-like protein transferase activity] GO:0031410[cytoplasmic vesicle] GO:0031901[early endosome membrane] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032480[negative regulation of type I interferon production] GO:0032991[protein-containing complex] GO:0035519[protein K29-linked ubiquitination] GO:0043021[ribonucleoprotein complex binding] GO:0043066[negative regulation of apoptotic process] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0043231[intracellular membrane-bounded organelle] GO:0044389[ubiquitin-like protein ligase binding] GO:0045087[innate immune response] GO:0045236[CXCR chemokine receptor binding] GO:0046329[negative regulation of JNK cascade] GO:0046718[viral entry into host cell] GO:0050687[negative regulation of defense response to virus] GO:0051607[defense response to virus] GO:0051865[protein autoubiquitination] GO:0061630[ubiquitin protein ligase activity] GO:0070062[extracellular exosome] GO:0070423[nucleotide-binding oligomerization domain containing signaling pathway] GO:0070534[protein K63-linked ubiquitination] GO:0070936[protein K48-linked ubiquitination] GO:0090085[regulation of protein deubiquitination] GO:1902036[regulation of hematopoietic stem cell differentiation] GO:1990763[arrestin family protein binding] GO:2000646[positive regulation of receptor catabolic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Immune system diseases Allergies and autoimmune diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000209[protein polyubiquitination] GO:0001558[regulation of cell growth] GO:0002376[immune system process] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005769[early endosome] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006513[protein monoubiquitination] GO:0006915[apoptotic process] GO:0006954[inflammatory response] GO:0010008[endosome membrane] GO:0016020[membrane] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0019787[ubiquitin-like protein transferase activity] GO:0031410[cytoplasmic vesicle] GO:0031901[early endosome membrane] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032480[negative regulation of type I interferon production] GO:0032991[protein-containing complex] GO:0035519[protein K29-linked ubiquitination] GO:0043021[ribonucleoprotein complex binding] GO:0043066[negative regulation of apoptotic process] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0043231[intracellular membrane-bounded organelle] GO:0044389[ubiquitin-like protein ligase binding] GO:0045087[innate immune response] GO:0045236[CXCR chemokine receptor binding] GO:0046329[negative regulation of JNK cascade] GO:0046718[viral entry into host cell] GO:0050687[negative regulation of defense response to virus] GO:0051607[defense response to virus] GO:0051865[protein autoubiquitination] GO:0061630[ubiquitin protein ligase activity] GO:0070062[extracellular exosome] GO:0070423[nucleotide-binding oligomerization domain containing signaling pathway] GO:0070534[protein K63-linked ubiquitination] GO:0070936[protein K48-linked ubiquitination] GO:0090085[regulation of protein deubiquitination] GO:1902036[regulation of hematopoietic stem cell differentiation] GO:1990763[arrestin family protein binding] GO:2000646[positive regulation of receptor catabolic process]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0061630[ubiquitin protein ligase activity]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Allergies and autoimmune diseases Protein evidence (Ezkurdia et al 2014)
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