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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
7
Cytoband
q22.1
Chromosome location (bp)
99027440 - 99144108
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 acts as a negative regulator of BMP signaling pathway. Mediates ubiquitination and degradation of SMAD1 and SMAD5, 2 receptor-regulated SMADs specific for the BMP pathway. Promotes ubiquitination and subsequent proteasomal degradation of TRAF family members and RHOA. Promotes ubiquitination and subsequent proteasomal degradation of MAVS 1. Acts as an antagonist of TGF-beta signaling by ubiquitinating TGFBR1 and targeting it for degradation 2. Plays a role in dendrite formation by melanocytes 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.
Differentiation, Ubl conjugation pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 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 Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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:0000209[protein polyubiquitination] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005543[phospholipid binding] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006611[protein export from nucleus] GO:0007398[ectoderm development] GO:0016020[membrane] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0030154[cell differentiation] GO:0030509[BMP signaling pathway] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030514[negative regulation of BMP signaling pathway] GO:0030579[ubiquitin-dependent SMAD protein catabolic process] GO:0032801[receptor catabolic process] GO:0034394[protein localization to cell surface] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0048185[activin binding] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0061630[ubiquitin protein ligase activity] GO:0061736[engulfment of target by autophagosome] GO:0061753[substrate localization to autophagosome] GO:0070062[extracellular exosome] GO:0070411[I-SMAD binding] GO:0070412[R-SMAD binding] GO:0071211[protein targeting to vacuole involved in autophagy] GO:0072659[protein localization to plasma membrane] GO:1903861[positive regulation of dendrite extension] GO:2000060[positive regulation of ubiquitin-dependent protein catabolic process]
Enzymes ENZYME proteins Transferases Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000209[protein polyubiquitination] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005543[phospholipid binding] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006611[protein export from nucleus] GO:0007398[ectoderm development] GO:0016020[membrane] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0030154[cell differentiation] GO:0030424[axon] GO:0030509[BMP signaling pathway] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030514[negative regulation of BMP signaling pathway] GO:0030579[ubiquitin-dependent SMAD protein catabolic process] GO:0032801[receptor catabolic process] GO:0034394[protein localization to cell surface] GO:0043025[neuronal cell body] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045773[positive regulation of axon extension] GO:0048185[activin binding] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0061630[ubiquitin protein ligase activity] GO:0061736[engulfment of target by autophagosome] GO:0061753[substrate localization to autophagosome] GO:0070062[extracellular exosome] GO:0070411[I-SMAD binding] GO:0070412[R-SMAD binding] GO:0071211[protein targeting to vacuole involved in autophagy] GO:0072659[protein localization to plasma membrane] GO:1903861[positive regulation of dendrite extension] GO:2000060[positive regulation of ubiquitin-dependent protein catabolic process]
The Human Protein Atlas project is funded
