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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 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
q21
Chromosome location (bp)
111555381 - 111606906
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 that catalyzes 'Lys-63'-linked polyubiquitination of target protein, enhancing protein-protein interaction and cell signaling 1. Transfers ubiquitin from E2 ubiquitin-conjugating enzyme UBE2V1-UBE2N to substrate protein 2. Essential adapter molecule in IL17A-mediated signaling 3,4. Upon IL17A stimulation, interacts with IL17RA and IL17RC receptor chains through SEFIR domains and catalyzes 'Lys-63'-linked polyubiquitination of TRAF6, leading to TRAF6-mediated activation of NF-kappa-B and MAPkinase pathways 5....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.
Inflammatory response, Ubl conjugation pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009]...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 Disease related genes Potential drug targets Human disease related genes Immune system 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:0002230[positive regulation of defense response to virus by host] GO:0005515[protein binding] GO:0005575[cellular_component] GO:0006954[inflammatory response] GO:0006959[humoral immune response] GO:0016740[transferase activity] GO:0035556[intracellular signal transduction] GO:0038173[interleukin-17A-mediated signaling pathway] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0061630[ubiquitin protein ligase activity] GO:0070534[protein K63-linked ubiquitination] GO:0097400[interleukin-17-mediated signaling pathway]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Immune system 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:0002230[positive regulation of defense response to virus by host] GO:0005515[protein binding] GO:0005575[cellular_component] GO:0006954[inflammatory response] GO:0006959[humoral immune response] GO:0016740[transferase activity] GO:0035556[intracellular signal transduction] GO:0038173[interleukin-17A-mediated signaling pathway] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0061630[ubiquitin protein ligase activity] GO:0070534[protein K63-linked ubiquitination] GO:0097400[interleukin-17-mediated signaling pathway]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Immune system 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:0002230[positive regulation of defense response to virus by host] GO:0005515[protein binding] GO:0005575[cellular_component] GO:0006954[inflammatory response] GO:0006959[humoral immune response] GO:0016740[transferase activity] GO:0035556[intracellular signal transduction] GO:0038173[interleukin-17A-mediated signaling pathway] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0061630[ubiquitin protein ligase activity] GO:0070534[protein K63-linked ubiquitination] GO:0097400[interleukin-17-mediated signaling pathway]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Immune system 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)
Show all
GO:0002230[positive regulation of defense response to virus by host] GO:0005515[protein binding] GO:0005575[cellular_component] GO:0006954[inflammatory response] GO:0006959[humoral immune response] GO:0016740[transferase activity] GO:0035556[intracellular signal transduction] GO:0038173[interleukin-17A-mediated signaling pathway] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0061630[ubiquitin protein ligase activity] GO:0070534[protein K63-linked ubiquitination] GO:0097400[interleukin-17-mediated signaling pathway]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Immune system 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)
Show all
GO:0002230[positive regulation of defense response to virus by host] GO:0005515[protein binding] GO:0005575[cellular_component] GO:0006954[inflammatory response] GO:0006959[humoral immune response] GO:0016740[transferase activity] GO:0035556[intracellular signal transduction] GO:0038173[interleukin-17A-mediated signaling pathway] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0061630[ubiquitin protein ligase activity] GO:0070534[protein K63-linked ubiquitination] GO:0097400[interleukin-17-mediated signaling pathway]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Immune system 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:0000209[protein polyubiquitination] GO:0001768[establishment of T cell polarity] GO:0001782[B cell homeostasis] GO:0001783[B cell apoptotic process] GO:0001822[kidney development] GO:0002230[positive regulation of defense response to virus by host] GO:0002269[leukocyte activation involved in inflammatory response] GO:0002334[transitional two stage B cell differentiation] GO:0002344[B cell affinity maturation] GO:0002447[eosinophil mediated immunity] GO:0005102[signaling receptor binding] GO:0005515[protein binding] GO:0005575[cellular_component] GO:0005634[nucleus] GO:0006606[protein import into nucleus] GO:0006954[inflammatory response] GO:0006955[immune response] GO:0006959[humoral immune response] GO:0007507[heart development] GO:0009410[response to xenobiotic stimulus] GO:0010467[gene expression] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0019221[cytokine-mediated signaling pathway] GO:0019724[B cell mediated immunity] GO:0023019[signal transduction involved in regulation of gene expression] GO:0023035[CD40 signaling pathway] GO:0030217[T cell differentiation] GO:0031410[cytoplasmic vesicle] GO:0033209[tumor necrosis factor-mediated signaling pathway] GO:0034097[response to cytokine] GO:0034504[protein localization to nucleus] GO:0035556[intracellular signal transduction] GO:0038173[interleukin-17A-mediated signaling pathway] GO:0042092[type 2 immune response] GO:0042110[T cell activation] GO:0042119[neutrophil activation] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043588[skin development] GO:0048255[mRNA stabilization] GO:0048535[lymph node development] GO:0048536[spleen development] GO:0061630[ubiquitin protein ligase activity] GO:0070254[mucus secretion] GO:0070534[protein K63-linked ubiquitination] GO:0071345[cellular response to cytokine stimulus] GO:0072538[T-helper 17 type immune response] GO:0097398[cellular response to interleukin-17] GO:0097400[interleukin-17-mediated signaling pathway] GO:0110012[protein localization to P-body] GO:1990959[eosinophil homeostasis]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Other immune system diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Other immune system diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Other immune system diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Other immune system diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Other immune system diseases Skin diseases Skin and soft tissue diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
