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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 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
p22.1
Chromosome location (bp)
28903002 - 28923988
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-protein ligase that mediates ubiquitination of various substrates and thereby plays a role in diffent processes including proliferation, innate immunity, apoptosis, immune response or autophagy 1,2,3,4. Ubiquitinates PIK3C2B and inhibits its activity by mediating the formation of 'Lys-48'-linked polyubiquitin chains; the function inhibits CD4 T-cell activation. Acts as a regulator of retrograde transport: together with MAGEL2, mediates the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1, leading to promote endosomal F-actin assembly 5. Has a transcriptional repressor activity by cooperating with EPC1. Induces apoptosis by activating Jun N-terminal kinase and p38 kinase and also increases caspase-3-like activity independently of mitochondrial events. May function in male germ cell development. Has DNA-binding activity and preferentially bound to double-stranded DNA. Forms a complex with and ubiquitinates the ubiquitin-specific protease USP7, which in turn deubiquitinates RIPK1 resulting in the positive regulation of TNF-alpha-induced apoptosis 6. In addition, acts with USP7 or PTPN11 as an inhibitor of the antiviral signaling pathway by promoting kinase TBK1 ubiquitination and degradation 7,8. Acts as a negative regulator of NOD2 signaling by mediating ubiquitination of NOD2, promoting its degradation by the proteasome 9. Alternatively, facilitates mitophagy via stabilization of active TBK1 10. Negatively regulates autophagy flux under basal conditions by directly polyubiquitinating ULK1 11. During starvation-induced autophagy, catalyzes non-degradative ubiquitination of the kinase STK38L promoting its activation and phosphorylation of ULK1 leading to its ubiquitination and degradation to restrain the amplitude and duration of autophagy 12....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, Repressor, Transferase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
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 encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nuclear matrix. It interacts with the enhancer of polycomb protein and represses gene transcription. It is also thought to be involved in the differentiation of male germ cells. Fusion of the N-terminus of this protein with the truncated C-terminus of the RET gene product has been shown to result in production of the ret transforming protein. [provided by RefSeq, Jul 2008]...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 Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000209[protein polyubiquitination] GO:0001650[fibrillar center] GO:0002820[negative regulation of adaptive immune response] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003713[transcription coactivator activity] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005769[early endosome] GO:0005829[cytosol] GO:0006469[negative regulation of protein kinase activity] GO:0007283[spermatogenesis] GO:0008270[zinc ion binding] GO:0010468[regulation of gene expression] GO:0010508[positive regulation of autophagy] GO:0016567[protein ubiquitination] GO:0016605[PML body] GO:0016740[transferase activity] GO:0016925[protein sumoylation] GO:0019789[SUMO transferase activity] GO:0019901[protein kinase binding] GO:0030904[retromer complex] GO:0031965[nuclear membrane] GO:0032703[negative regulation of interleukin-2 production] GO:0032720[negative regulation of tumor necrosis factor production] GO:0032729[positive regulation of interferon-gamma production] GO:0032880[regulation of protein localization] GO:0032897[negative regulation of viral transcription] GO:0034314[Arp2/3 complex-mediated actin nucleation] GO:0042147[retrograde transport, endosome to Golgi] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0045087[innate immune response] GO:0045814[negative regulation of gene expression, epigenetic] GO:0045893[positive regulation of DNA-templated transcription] GO:0046596[regulation of viral entry into host cell] GO:0046872[metal ion binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0061630[ubiquitin protein ligase activity] GO:0070534[protein K63-linked ubiquitination] GO:0090281[negative regulation of calcium ion import]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Potential drug targets 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:0000122[negative regulation of transcription by RNA polymerase II] GO:0000209[protein polyubiquitination] GO:0001650[fibrillar center] GO:0002820[negative regulation of adaptive immune response] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003713[transcription coactivator activity] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005769[early endosome] GO:0005829[cytosol] GO:0006469[negative regulation of protein kinase activity] GO:0007283[spermatogenesis] GO:0008270[zinc ion binding] GO:0010468[regulation of gene expression] GO:0010508[positive regulation of autophagy] GO:0016567[protein ubiquitination] GO:0016605[PML body] GO:0016740[transferase activity] GO:0016925[protein sumoylation] GO:0019789[SUMO transferase activity] GO:0019901[protein kinase binding] GO:0030904[retromer complex] GO:0031965[nuclear membrane] GO:0032703[negative regulation of interleukin-2 production] GO:0032720[negative regulation of tumor necrosis factor production] GO:0032729[positive regulation of interferon-gamma production] GO:0032880[regulation of protein localization] GO:0032897[negative regulation of viral transcription] GO:0034314[Arp2/3 complex-mediated actin nucleation] GO:0042147[retrograde transport, endosome to Golgi] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0044790[suppression of viral release by host] GO:0045087[innate immune response] GO:0045814[negative regulation of gene expression, epigenetic] GO:0045893[positive regulation of DNA-templated transcription] GO:0046596[regulation of viral entry into host cell] GO:0046872[metal ion binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051127[positive regulation of actin nucleation] GO:0061630[ubiquitin protein ligase activity] GO:0070534[protein K63-linked ubiquitination] GO:0090281[negative regulation of calcium ion import]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
