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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
12
Cytoband
q24.31
Chromosome location (bp)
121400083 - 121430623
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 regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins. Ubiquitinates the caspases CASP8 and CASP10, promoting their proteasomal degradation, to negatively regulate cell death downstream of death domain receptors in the extrinsic pathway of apoptosis 1. May mediate 'Lys-48'-linked polyubiquitination of RIPK1 and its subsequent proteasomal degradation thereby indirectly regulating the tumor necrosis factor-mediated signaling pathway (Ref.13). Negatively regulates p53/TP53 through its direct ubiquitination and targeting to proteasomal degradation 2. Indirectly, may also negatively regulate p53/TP53 through ubiquitination and degradation of SFN 3. Mediates PPARGC1A proteasomal degradation probably through ubiquitination thereby indirectly regulating the metabolism of brown fat cells 4. Possibly involved in innate immunity, through 'Lys-48'-linked polyubiquitination of NOD1 and its subsequent proteasomal degradation 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.
Apoptosis, 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.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene contains a RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. This protein also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 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 Transferases Phobius predicted secreted proteins 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:0002039[p53 binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006915[apoptotic process] GO:0012505[endomembrane system] GO:0016020[membrane] GO:0016567[protein ubiquitination] GO:0016604[nuclear body] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0031625[ubiquitin protein ligase binding] GO:0035872[nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0046872[metal ion binding] GO:0061630[ubiquitin protein ligase activity] GO:0070417[cellular response to cold] GO:0070936[protein K48-linked ubiquitination] GO:1901796[regulation of signal transduction by p53 class mediator] GO:1901797[negative regulation of signal transduction by p53 class mediator] GO:1901981[phosphatidylinositol phosphate binding] GO:1902042[negative regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:2000374[regulation of oxygen metabolic process] GO:2001271[negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis]
Enzymes ENZYME proteins Transferases Phobius predicted secreted proteins 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)
Show all
GO:0002039[p53 binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006915[apoptotic process] GO:0012505[endomembrane system] GO:0016020[membrane] GO:0016567[protein ubiquitination] GO:0016604[nuclear body] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0031625[ubiquitin protein ligase binding] GO:0035872[nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0046872[metal ion binding] GO:0061630[ubiquitin protein ligase activity] GO:0070936[protein K48-linked ubiquitination] GO:1901796[regulation of signal transduction by p53 class mediator] GO:1901797[negative regulation of signal transduction by p53 class mediator] GO:1901981[phosphatidylinositol phosphate binding] GO:1902042[negative regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:2000374[regulation of oxygen metabolic process] GO:2001271[negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis]
Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
