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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
3
Cytoband
q21.1
Chromosome location (bp)
122564338 - 122575203
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 which, in association with ADP-ribosyltransferase PARP9, plays a role in DNA damage repair and in interferon-mediated antiviral responses 1,2,3,4. Monoubiquitinates several histones, including histone H2A, H2B, H3 and H4 5. In response to DNA damage, mediates monoubiquitination of 'Lys-91' of histone H4 (H4K91ub1) 6. The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post-translational modifications such as H4 'Lys-20' methylation (H4K20me) 7. PARP1-dependent PARP9-DTX3L-mediated ubiquitination promotes the rapid and specific recruitment of 53BP1/TP53BP1, UIMC1/RAP80, and BRCA1 to DNA damage sites 8. By monoubiquitinating histone H2B H2BC9/H2BJ and thereby promoting chromatin remodeling, positively regulates STAT1-dependent interferon-stimulated gene transcription and thus STAT1-mediated control of viral replication 9. Independently of its catalytic activity, promotes the sorting of chemokine receptor CXCR4 from early endosome to lysosome following CXCL12 stimulation by reducing E3 ligase ITCH activity and thus ITCH-mediated ubiquitination of endosomal sorting complex required for transport ESCRT-0 components HGS and STAM 10. In addition, required for the recruitment of HGS and STAM to early endosomes 11. In association with PARP9, plays a role in antiviral responses by mediating 'Lys-48'-linked ubiquitination of encephalomyocarditis virus (EMCV) and human rhinovirus (HRV) C3 proteases and thus promoting their proteasomal-mediated degradation 12....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chromatin regulator, Transferase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Antiviral defense, DNA damage, DNA repair, Host-virus interaction, Immunity, Innate immunity, Protein transport, Transport, Ubl conjugation pathway
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
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 Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000077[DNA damage checkpoint signaling] GO:0002230[positive regulation of defense response to virus by host] GO:0002376[immune system process] GO:0004842[ubiquitin-protein transferase activity] GO:0004857[enzyme inhibitor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005768[endosome] GO:0005769[early endosome] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006325[chromatin organization] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006974[cellular response to DNA damage stimulus] GO:0007219[Notch signaling pathway] GO:0008333[endosome to lysosome transport] GO:0010390[histone monoubiquitination] GO:0015031[protein transport] GO:0016020[membrane] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0019899[enzyme binding] GO:0031901[early endosome membrane] GO:0032092[positive regulation of protein binding] GO:0032991[protein-containing complex] GO:0033522[histone H2A ubiquitination] GO:0033523[histone H2B ubiquitination] GO:0035563[positive regulation of chromatin binding] GO:0042393[histone binding] GO:0044389[ubiquitin-like protein ligase binding] GO:0045087[innate immune response] GO:0045893[positive regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0051444[negative regulation of ubiquitin-protein transferase activity] GO:0051607[defense response to virus] GO:0051865[protein autoubiquitination] GO:0061630[ubiquitin protein ligase activity] GO:0070936[protein K48-linked ubiquitination] GO:0097677[STAT family protein binding] GO:0140768[protein ADP-ribosyltransferase-substrate adaptor activity] GO:1900182[positive regulation of protein localization to nucleus] GO:1902966[positive regulation of protein localization to early endosome] GO:2000646[positive regulation of receptor catabolic process]
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000077[DNA damage checkpoint signaling] GO:0002230[positive regulation of defense response to virus by host] GO:0002376[immune system process] GO:0004842[ubiquitin-protein transferase activity] GO:0004857[enzyme inhibitor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005768[endosome] GO:0005769[early endosome] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006325[chromatin organization] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006974[cellular response to DNA damage stimulus] GO:0007219[Notch signaling pathway] GO:0008333[endosome to lysosome transport] GO:0010390[histone monoubiquitination] GO:0015031[protein transport] GO:0016020[membrane] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0019899[enzyme binding] GO:0031901[early endosome membrane] GO:0032092[positive regulation of protein binding] GO:0032991[protein-containing complex] GO:0033522[histone H2A ubiquitination] GO:0033523[histone H2B ubiquitination] GO:0035563[positive regulation of chromatin binding] GO:0042393[histone binding] GO:0044389[ubiquitin-like protein ligase binding] GO:0045087[innate immune response] GO:0045893[positive regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0051444[negative regulation of ubiquitin-protein transferase activity] GO:0051607[defense response to virus] GO:0051865[protein autoubiquitination] GO:0061630[ubiquitin protein ligase activity] GO:0070936[protein K48-linked ubiquitination] GO:0097677[STAT family protein binding] GO:0140768[protein ADP-ribosyltransferase-substrate adaptor activity] GO:1900182[positive regulation of protein localization to nucleus] GO:1902966[positive regulation of protein localization to early endosome] GO:2000646[positive regulation of receptor catabolic process]