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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 Human disease related genes
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
q12.3
Chromosome location (bp)
32474676 - 32498829
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins and plays a role in several biological processes such as cell cycle, cell proliferation, or maintenance of chromosome stability 1,2. Recognizes and ubiquitinates BIRC2 and the cell cycle regulator DLGAP5 3,4,5. Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy (mitophagy) by targeting PRKN to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination. Mediates the ubiquitination and proteasomal degradation of UXT isoform 2, thereby impairing the NF-kappa-B signaling pathway 6. Inhibits NF-kappa-B pathway also by promoting the ubiquitination of TRAF2 7. Affects the assembly state and activity of the proteasome in the cells including neurons by ubiquitinating the proteasomal subunit PSMA2 via 'Lys-63'-linked polyubiquitin chains (By similarity). Promotes 'Lys-48'-linked polyubiquitination SIRT7, leading to the hydrogen peroxide-induced cell death 8....show less
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
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [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.
MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases 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:0000151[ubiquitin ligase complex] GO:0000422[autophagy of mitochondrion] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006626[protein targeting to mitochondrion] GO:0010975[regulation of neuron projection development] GO:0016567[protein ubiquitination] GO:0019005[SCF ubiquitin ligase complex] GO:0019222[regulation of metabolic process] GO:0019901[protein kinase binding] GO:0030098[lymphocyte differentiation] GO:0031625[ubiquitin protein ligase binding] GO:0031647[regulation of protein stability] GO:0032991[protein-containing complex] GO:0040012[regulation of locomotion] GO:0043130[ubiquitin binding] GO:0045620[negative regulation of lymphocyte differentiation] GO:0045736[negative regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0046982[protein heterodimerization activity] GO:0097409[glial cytoplasmic inclusion] GO:0097414[classical Lewy body] GO:0097462[Lewy neurite] GO:1901215[negative regulation of neuron death] GO:1903204[negative regulation of oxidative stress-induced neuron death] GO:1903208[negative regulation of hydrogen peroxide-induced neuron death] GO:1903599[positive regulation of autophagy of mitochondrion] GO:1990037[Lewy body core] GO:1990038[Lewy body corona] GO:1990756[ubiquitin ligase-substrate adaptor activity] GO:2000134[negative regulation of G1/S transition of mitotic cell cycle]
MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases 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:0000151[ubiquitin ligase complex] GO:0000422[autophagy of mitochondrion] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005829[cytosol] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006626[protein targeting to mitochondrion] GO:0010975[regulation of neuron projection development] GO:0016567[protein ubiquitination] GO:0019005[SCF ubiquitin ligase complex] GO:0019222[regulation of metabolic process] GO:0019901[protein kinase binding] GO:0031625[ubiquitin protein ligase binding] GO:0031647[regulation of protein stability] GO:0032991[protein-containing complex] GO:0040012[regulation of locomotion] GO:0043130[ubiquitin binding] GO:0046982[protein heterodimerization activity] GO:0097409[glial cytoplasmic inclusion] GO:0097414[classical Lewy body] GO:0097462[Lewy neurite] GO:1903204[negative regulation of oxidative stress-induced neuron death] GO:1903208[negative regulation of hydrogen peroxide-induced neuron death] GO:1903599[positive regulation of autophagy of mitochondrion] GO:1990037[Lewy body core] GO:1990038[Lewy body corona] GO:1990756[ubiquitin ligase-substrate adaptor activity]
The Human Protein Atlas project is funded
