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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.
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
q25.1
Chromosome location (bp)
150741125 - 150763477
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 and subsequent proteasomal degradation of target proteins 1,2,3. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates 4,5,6. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes 7,8,9. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (GPS2, POU2AF1, PML, NCOR1), a cell surface receptor (DCC), an antiapoptotic protein (BAG1), and a protein involved in synaptic vesicle function in neurons (SYP) 10,11,12. Mediates ubiquitination and proteasomal degradation of DYRK2 in response to hypoxia 13. It is thereby involved in apoptosis, tumor suppression, cell cycle, transcription and signaling processes 14,15,16,17. Has some overlapping function with SIAH1 18,19,20. Triggers the ubiquitin-mediated degradation of TRAF2, whereas SIAH1 does not 21. Promotes monoubiquitination of SNCA 22. Regulates cellular clock function via ubiquitination of the circadian transcriptional repressors NR1D1 and NR1D2 leading to their proteasomal degradation 23. Plays an important role in mediating the rhythmic degradation/clearance of NR1D1 and NR1D2 contributing to their circadian profile of protein abundance 24. Mediates ubiquitination and degradation of EGLN2 and EGLN3 in response to the unfolded protein response (UPR), leading to their degradation and subsequent stabilization of ATF4 (By similarity). Also part of the Wnt signaling pathway in which it mediates the Wnt-induced ubiquitin-mediated proteasomal degradation of AXIN1....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.
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 protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. [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 Metabolic proteins Transporters Accessory Factors Involved in Transport Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0003714[transcription corepressor activity] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005769[early endosome] GO:0005829[cytosol] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006915[apoptotic process] GO:0007049[cell cycle] GO:0007264[small GTPase mediated signal transduction] GO:0007275[multicellular organism development] GO:0008270[zinc ion binding] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0031396[regulation of protein ubiquitination] GO:0031624[ubiquitin conjugating enzyme binding] GO:0042752[regulation of circadian rhythm] GO:0043005[neuron projection] GO:0043025[neuronal cell body] GO:0043066[negative regulation of apoptotic process] GO:0043154[negative regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0043231[intracellular membrane-bounded organelle] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0048511[rhythmic process] GO:0060070[canonical Wnt signaling pathway] GO:0061630[ubiquitin protein ligase activity] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:1990000[amyloid fibril formation] GO:2001237[negative regulation of extrinsic apoptotic signaling pathway]
The Human Protein Atlas project is funded
