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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 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
1
Cytoband
p34.1
Chromosome location (bp)
44405194 - 44651724
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 promotes the ubiquitination and proteasomal degradation of SIN3B (By similarity). Independently of its E3 ligase activity, acts as a CTNNB1 stabilizer through USP7-mediated deubiquitination of CTNNB1 promoting Wnt signaling 1,2. Plays a critical role in the regulation of nuclear lamina 3....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.
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
Predicted to enable ubiquitin protein ligase activity. Involved in positive regulation of canonical Wnt signaling pathway. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]...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.
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005652[nuclear lamina] GO:0005737[cytoplasm] GO:0006513[protein monoubiquitination] GO:0008013[beta-catenin binding] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0032991[protein-containing complex] GO:0046872[metal ion binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051865[protein autoubiquitination] GO:0061630[ubiquitin protein ligase activity] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:2000677[regulation of transcription regulatory region DNA binding]
Enzymes ENZYME proteins Transferases Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism 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:0003358[noradrenergic neuron development] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005652[nuclear lamina] GO:0005737[cytoplasm] GO:0006513[protein monoubiquitination] GO:0008013[beta-catenin binding] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0021904[dorsal/ventral neural tube patterning] GO:0032991[protein-containing complex] GO:0046872[metal ion binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051865[protein autoubiquitination] GO:0061630[ubiquitin protein ligase activity] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:2000677[regulation of transcription regulatory region DNA binding]
Enzymes ENZYME proteins Transferases Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005652[nuclear lamina] GO:0005737[cytoplasm] GO:0006513[protein monoubiquitination] GO:0008013[beta-catenin binding] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0032991[protein-containing complex] GO:0046872[metal ion binding] GO:0051091[positive regulation of DNA-binding transcription factor activity] GO:0051865[protein autoubiquitination] GO:0061630[ubiquitin protein ligase activity] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:2000677[regulation of transcription regulatory region DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014)
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
