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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 Metabolic 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
14
Cytoband
q12
Chromosome location (bp)
31100117 - 31207804
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 which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates 1. Mediates 'Lys-63'-linked polyubiquitination of HSP90AA1 which leads to its intracellular localization and reduced secretion (By similarity). Negatively regulating HSP90AA1 secretion in cranial mesenchyme cells may impair their emigration and may be essential for the correct development of the cranial neural folds and neural tube closure (By similarity). Catalyzes ubiquitination and degradation of ZNF622, an assembly factor for the ribosomal 60S subunit, in hematopoietic cells, thereby promoting hematopoietic stem cell renewal 2....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
Gene summary (Entrez)i
Useful information about the gene from Entrez
Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in anatomical structure development; positive regulation of proteasomal ubiquitin-dependent protein catabolic process; and protein K63-linked ubiquitination. Predicted to act upstream of or within several processes, including animal organ development; negative regulation of protein localization to plasma membrane; and protein autoubiquitination. [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 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 Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000209[protein polyubiquitination] GO:0001779[natural killer cell differentiation] GO:0001843[neural tube closure] GO:0001892[embryonic placenta development] GO:0003170[heart valve development] GO:0003281[ventricular septum development] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0016567[protein ubiquitination] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0019538[protein metabolic process] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0035904[aorta development] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0046872[metal ion binding] GO:0048856[anatomical structure development] GO:0051865[protein autoubiquitination] GO:0060707[trophoblast giant cell differentiation] GO:0060708[spongiotrophoblast differentiation] GO:0061630[ubiquitin protein ligase activity] GO:0070534[protein K63-linked ubiquitination] GO:0072659[protein localization to plasma membrane] GO:1903077[negative regulation of protein localization to plasma membrane]
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000209[protein polyubiquitination] GO:0003170[heart valve development] GO:0003281[ventricular septum development] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0016567[protein ubiquitination] GO:0016607[nuclear speck] GO:0016740[transferase activity] GO:0019538[protein metabolic process] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0035904[aorta development] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0046872[metal ion binding] GO:0048856[anatomical structure development] GO:0061630[ubiquitin protein ligase activity] GO:0070534[protein K63-linked ubiquitination]
The Human Protein Atlas project is funded
