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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 Plasma proteins
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
22
Cytoband
q13.2
Chromosome location (bp)
40951347 - 40973309
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 component of multiple cullin-RING-based E3 ubiquitin-protein ligase (CRLs) complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins, including proteins involved in cell cycle progression, signal transduction, transcription and transcription-coupled nucleotide excision repair 1,2,3,4,5,6,7,8,9,10,11. CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets 12. The functional specificity of the E3 ubiquitin-protein ligase complexes depends on the variable substrate recognition components. As a component of the CSA complex promotes the ubiquitination of ERCC6 resulting in proteasomal degradation. Recruits the E2 ubiquitin-conjugating enzyme CDC34 to the complex and brings it into close proximity to the substrate. Probably also stimulates CDC34 autoubiquitination. May be required for histone H3 and histone H4 ubiquitination in response to ultraviolet and for subsequent DNA repair. Promotes the neddylation of CUL1, CUL2, CUL4 and CUL4 via its interaction with UBE2M. Involved in the ubiquitination of KEAP1, ENC1 and KLHL41. In concert with ATF2 and CUL3, promotes degradation of KAT5 thereby attenuating its ability to acetylate and activate ATM. As part of a multisubunit complex composed of elongin BC complex (ELOB and ELOC), elongin A/ELOA, RBX1 and CUL5; polyubiquitinates monoubiquitinated POLR2A 13....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, DNA repair, Host-virus interaction, 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 locus encodes a RING finger-like domain-containing protein. The encoded protein interacts with cullin proteins and likely plays a role in ubiquitination processes necessary for cell cycle progression. This protein may also affect protein turnover. Related pseudogenes exist on chromosomes 2 and 5.[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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins 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:0000165[MAPK cascade] GO:0000209[protein polyubiquitination] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006513[protein monoubiquitination] GO:0006974[cellular response to DNA damage stimulus] GO:0008270[zinc ion binding] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0019005[SCF ubiquitin ligase complex] GO:0019788[NEDD8 transferase activity] GO:0030163[protein catabolic process] GO:0031146[SCF-dependent proteasomal ubiquitin-dependent protein catabolic process] GO:0031461[cullin-RING ubiquitin ligase complex] GO:0031462[Cul2-RING ubiquitin ligase complex] GO:0031463[Cul3-RING ubiquitin ligase complex] GO:0031464[Cul4A-RING E3 ubiquitin ligase complex] GO:0031465[Cul4B-RING E3 ubiquitin ligase complex] GO:0031466[Cul5-RING ubiquitin ligase complex] GO:0031467[Cul7-RING ubiquitin ligase complex] GO:0031625[ubiquitin protein ligase binding] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0034450[ubiquitin-ubiquitin ligase activity] GO:0034644[cellular response to UV] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0043687[post-translational protein modification] GO:0045116[protein neddylation] GO:0046872[metal ion binding] GO:0060090[molecular adaptor activity] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061630[ubiquitin protein ligase activity] GO:0061663[NEDD8 ligase activity] GO:0062197[cellular response to chemical stress] GO:0070936[protein K48-linked ubiquitination] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0097602[cullin family protein binding] GO:1902499[positive regulation of protein autoubiquitination]
The Human Protein Atlas project is funded
