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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
9
Cytoband
p21.1
Chromosome location (bp)
32540544 - 32552586
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability through ubiquitin-dependent degradation. May regulate chromatin modification through sumoylation of several chromatin modification-associated proteins. May be involved in DNA damage-induced cell death through IKBKE sumoylation....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.
DNA damage, 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
This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]...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 Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Eye disease 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:0000151[ubiquitin ligase complex] GO:0000209[protein polyubiquitination] GO:0000922[spindle pole] GO:0000930[gamma-tubulin complex] GO:0003677[DNA binding] GO:0003823[antigen binding] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005814[centriole] GO:0006351[DNA-templated transcription] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006513[protein monoubiquitination] GO:0006974[cellular response to DNA damage stimulus] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0010842[retina layer formation] GO:0016605[PML body] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0016925[protein sumoylation] GO:0019789[SUMO transferase activity] GO:0030496[midbody] GO:0032391[photoreceptor connecting cilium] GO:0034504[protein localization to nucleus] GO:0035845[photoreceptor cell outer segment organization] GO:0036064[ciliary basal body] GO:0042127[regulation of cell population proliferation] GO:0042771[intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator] GO:0043066[negative regulation of apoptotic process] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0044547[DNA topoisomerase binding] GO:0045893[positive regulation of DNA-templated transcription] GO:0046548[retinal rod cell development] GO:0046549[retinal cone cell development] GO:0046872[metal ion binding] GO:0051443[positive regulation of ubiquitin-protein transferase activity] GO:0051457[maintenance of protein location in nucleus] GO:0061630[ubiquitin protein ligase activity] GO:0070936[protein K48-linked ubiquitination]
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151[ubiquitin ligase complex] GO:0000209[protein polyubiquitination] GO:0000922[spindle pole] GO:0000930[gamma-tubulin complex] GO:0003677[DNA binding] GO:0003823[antigen binding] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005814[centriole] GO:0006351[DNA-templated transcription] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006513[protein monoubiquitination] GO:0006974[cellular response to DNA damage stimulus] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0010842[retina layer formation] GO:0016605[PML body] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0016925[protein sumoylation] GO:0019789[SUMO transferase activity] GO:0030496[midbody] GO:0032391[photoreceptor connecting cilium] GO:0034504[protein localization to nucleus] GO:0035845[photoreceptor cell outer segment organization] GO:0036064[ciliary basal body] GO:0043066[negative regulation of apoptotic process] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0044547[DNA topoisomerase binding] GO:0046548[retinal rod cell development] GO:0046549[retinal cone cell development] GO:0046872[metal ion binding] GO:0051443[positive regulation of ubiquitin-protein transferase activity] GO:0051457[maintenance of protein location in nucleus] GO:0061630[ubiquitin protein ligase activity] GO:0070936[protein K48-linked ubiquitination]
The Human Protein Atlas project is funded
