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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
X
Cytoband
p11.4
Chromosome location (bp)
41085445 - 41236579
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins 1,2,3,4,5,6,7. May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin 8,9,10,11,12,13,14. Specifically hydrolyzes 'Lys-11'-, followed by 'Lys-63'-, 'Lys-48'- and 'Lys-6'- linked polyubiquitins chains 15. Essential component of TGF-beta/BMP signaling cascade 16. Specifically deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33 17. Deubiquitinates alkylation repair enzyme ALKBH3 18. OTUD4 recruits USP7 and USP9X to stabilize ALKBH3, thereby promoting the repair of alkylated DNA lesions 19. Deubiquitinates RNA demethylase enzyme ALKBH5, promoting its stability 20. Deubiquitinates mTORC2 complex component RICTOR at 'Lys-294' by removing 'Lys-63'-linked polyubiquitin chains, stabilizing RICTOR and enhancing its binding to MTOR, thus promoting mTORC2 complex assembly 21. Regulates chromosome alignment and segregation in mitosis by regulating the localization of BIRC5/survivin to mitotic centromeres 22. Involved in axonal growth and neuronal cell migration 23. Regulates cellular clock function by enhancing the protein stability and transcriptional activity of the core circadian protein BMAL1 via its deubiquitinating activity 24. Acts as a regulator of peroxisome import by mediating deubiquitination of PEX5: specifically deubiquitinates PEX5 monoubiquitinated at 'Cys-11' following its retrotranslocation into the cytosol, resetting PEX5 for a subsequent import cycle 25. Deubiquitinates PEG10 (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase, Protease, Thiol protease
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [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.
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Metabolic proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Other diseases Mental and behavioural disorders 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:0000122[negative regulation of transcription by RNA polymerase II] GO:0001764[neuron migration] GO:0004197[cysteine-type endopeptidase activity] GO:0004843[cysteine-type deubiquitinase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005929[cilium] GO:0006508[proteolysis] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0007049[cell cycle] GO:0007059[chromosome segregation] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007292[female gamete generation] GO:0008104[protein localization] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0016020[membrane] GO:0016477[cell migration] GO:0016562[protein import into peroxisome matrix, receptor recycling] GO:0016567[protein ubiquitination] GO:0016579[protein deubiquitination] GO:0016787[hydrolase activity] GO:0030426[growth cone] GO:0030509[BMP signaling pathway] GO:0032092[positive regulation of protein binding] GO:0032435[negative regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0035520[monoubiquitinated protein deubiquitination] GO:0042752[regulation of circadian rhythm] GO:0042995[cell projection] GO:0048511[rhythmic process] GO:0048675[axon extension] GO:0050821[protein stabilization] GO:0051301[cell division] GO:0061578[Lys63-specific deubiquitinase activity] GO:0070410[co-SMAD binding] GO:0070536[protein K63-linked deubiquitination] GO:0071947[protein deubiquitination involved in ubiquitin-dependent protein catabolic process] GO:0101005[deubiquitinase activity] GO:1901537[positive regulation of DNA demethylation] GO:1904515[positive regulation of TORC2 signaling] GO:1990000[amyloid fibril formation] GO:1990380[Lys48-specific deubiquitinase activity]
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Metabolic proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001764[neuron migration] GO:0004197[cysteine-type endopeptidase activity] GO:0004843[cysteine-type deubiquitinase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005929[cilium] GO:0006508[proteolysis] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0007049[cell cycle] GO:0007059[chromosome segregation] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0007292[female gamete generation] GO:0008104[protein localization] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0016020[membrane] GO:0016477[cell migration] GO:0016562[protein import into peroxisome matrix, receptor recycling] GO:0016567[protein ubiquitination] GO:0016579[protein deubiquitination] GO:0016787[hydrolase activity] GO:0030426[growth cone] GO:0030509[BMP signaling pathway] GO:0032092[positive regulation of protein binding] GO:0032435[negative regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0035520[monoubiquitinated protein deubiquitination] GO:0042752[regulation of circadian rhythm] GO:0042995[cell projection] GO:0048511[rhythmic process] GO:0048675[axon extension] GO:0050821[protein stabilization] GO:0051301[cell division] GO:0061578[Lys63-specific deubiquitinase activity] GO:0070410[co-SMAD binding] GO:0070536[protein K63-linked deubiquitination] GO:0071947[protein deubiquitination involved in ubiquitin-dependent protein catabolic process] GO:0101005[deubiquitinase activity] GO:1901537[positive regulation of DNA demethylation] GO:1904515[positive regulation of TORC2 signaling] GO:1990000[amyloid fibril formation] GO:1990380[Lys48-specific deubiquitinase activity]
Metabolic proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
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GO:0004843[cysteine-type deubiquitinase activity] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0016579[protein deubiquitination]
Metabolic proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004843[cysteine-type deubiquitinase activity] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0016579[protein deubiquitination]
Metabolic proteins MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Metabolic proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004843[cysteine-type deubiquitinase activity] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0016579[protein deubiquitination]
Metabolic proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004843[cysteine-type deubiquitinase activity] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0016579[protein deubiquitination]
Metabolic proteins MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004843[cysteine-type deubiquitinase activity] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0016579[protein deubiquitination]
The Human Protein Atlas project is funded
