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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 Metabolic proteins 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
16
Cytoband
p13.2
Chromosome location (bp)
8892097 - 8975328
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Hydrolase that deubiquitinates target proteins such as FOXO4, DEPTOR, KAT5, p53/TP53, MDM2, ERCC6, DNMT1, UHRF1, PTEN, KMT2E/MLL5 and DAXX 1,2,3,4,5,6,7,8,9. Together with DAXX, prevents MDM2 self-ubiquitination and enhances the E3 ligase activity of MDM2 towards p53/TP53, thereby promoting p53/TP53 ubiquitination and proteasomal degradation 10,11,12,13. Deubiquitinates p53/TP53, preventing degradation of p53/TP53, and enhances p53/TP53-dependent transcription regulation, cell growth repression and apoptosis 14. Deubiquitinates p53/TP53 and MDM2 and strongly stabilizes p53/TP53 even in the presence of excess MDM2, and also induces p53/TP53-dependent cell growth repression and apoptosis 15,16. Deubiquitination of FOXO4 in presence of hydrogen peroxide is not dependent on p53/TP53 and inhibits FOXO4-induced transcriptional activity 17. In association with DAXX, is involved in the deubiquitination and translocation of PTEN from the nucleus to the cytoplasm, both processes that are counteracted by PML 18. Deubiquitinates KMT2E/MLL5 preventing KMT2E/MLL5 proteasomal-mediated degradation 19. Involved in cell proliferation during early embryonic development. Involved in transcription-coupled nucleotide excision repair (TC-NER) in response to UV damage: recruited to DNA damage sites following interaction with KIAA1530/UVSSA and promotes deubiquitination of ERCC6, preventing UV-induced degradation of ERCC6 20,21. Involved in maintenance of DNA methylation via its interaction with UHRF1 and DNMT1: acts by mediating deubiquitination of UHRF1 and DNMT1, preventing their degradation and promoting DNA methylation by DNMT1 22,23. Deubiquitinates alkylation repair enzyme ALKBH3. OTUD4 recruits USP7 and USP9X to stabilize ALKBH3, thereby promoting the repair of alkylated DNA lesions 24. Acts as a chromatin regulator via its association with the Polycomb group (PcG) multiprotein PRC1-like complex; may act by deubiquitinating components of the PRC1-like complex 25. Able to mediate deubiquitination of histone H2B; it is however unsure whether this activity takes place in vivo 26. Exhibits a preference towards 'Lys-48'-linked ubiquitin chains 27. Increases regulatory T-cells (Treg) suppressive capacity by deubiquitinating and stabilizing the transcription factor FOXP3 which is crucial for Treg cell function 28. Plays a role in the maintenance of the circadian clock periodicity via deubiquitination and stabilization of the CRY1 and CRY2 proteins 29. Deubiquitinates REST, thereby stabilizing REST and promoting the maintenance of neural progenitor cells 30. Deubiquitinates SIRT7, inhibiting SIRT7 histone deacetylase activity and regulating gluconeogenesis 31. Involved in the regulation of WASH-dependent actin polymerization at the surface of endosomes and the regulation of endosomal protein recycling 32. It maintains optimal WASH complex activity and precise F-actin levels via deubiquitination of TRIM27 and WASHC1 33. Mediates the deubiquitination of phosphorylated DEPTOR, promoting its stability and leading to decreased mTORC1 signaling 34....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Biological rhythms, DNA damage, DNA repair, Host-virus interaction, Ubl conjugation pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]...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 Hydrolases Peptidases Cysteine-type peptidases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system 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:0002039[p53 binding] GO:0004197[cysteine-type endopeptidase activity] GO:0004843[cysteine-type deubiquitinase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006111[regulation of gluconeogenesis] GO:0006281[DNA repair] GO:0006283[transcription-coupled nucleotide-excision repair] GO:0006508[proteolysis] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006974[cellular response to DNA damage stimulus] GO:0008022[protein C-terminus binding] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0010216[maintenance of DNA methylation] GO:0016567[protein ubiquitination] GO:0016579[protein deubiquitination] GO:0016604[nuclear body] GO:0016605[PML body] GO:0016787[hydrolase activity] GO:0031625[ubiquitin protein ligase binding] GO:0031647[regulation of protein stability] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032435[negative regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0032991[protein-containing complex] GO:0035520[monoubiquitinated protein deubiquitination] GO:0035616[histone H2B conserved C-terminal lysine deubiquitination] GO:0042752[regulation of circadian rhythm] GO:0048511[rhythmic process] GO:0050821[protein stabilization] GO:0051090[regulation of DNA-binding transcription factor activity] GO:0101005[deubiquitinase activity] GO:1901537[positive regulation of DNA demethylation] GO:1901796[regulation of signal transduction by p53 class mediator] GO:1904353[regulation of telomere capping] GO:1905279[regulation of retrograde transport, endosome to Golgi] GO:1990380[Lys48-specific deubiquitinase activity]
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0002039[p53 binding] GO:0004197[cysteine-type endopeptidase activity] GO:0004843[cysteine-type deubiquitinase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006111[regulation of gluconeogenesis] GO:0006281[DNA repair] GO:0006283[transcription-coupled nucleotide-excision repair] GO:0006508[proteolysis] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006974[cellular response to DNA damage stimulus] GO:0008022[protein C-terminus binding] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0010216[maintenance of DNA methylation] GO:0016567[protein ubiquitination] GO:0016579[protein deubiquitination] GO:0016604[nuclear body] GO:0016605[PML body] GO:0016787[hydrolase activity] GO:0031625[ubiquitin protein ligase binding] GO:0031647[regulation of protein stability] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032435[negative regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0032991[protein-containing complex] GO:0035520[monoubiquitinated protein deubiquitination] GO:0035616[histone H2B conserved C-terminal lysine deubiquitination] GO:0042752[regulation of circadian rhythm] GO:0048511[rhythmic process] GO:0050821[protein stabilization] GO:0051090[regulation of DNA-binding transcription factor activity] GO:0101005[deubiquitinase activity] GO:1901537[positive regulation of DNA demethylation] GO:1901796[regulation of signal transduction by p53 class mediator] GO:1904353[regulation of telomere capping] GO:1905279[regulation of retrograde transport, endosome to Golgi] GO:1990380[Lys48-specific deubiquitinase activity]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
