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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
p11.23
Chromosome location (bp)
49879484 - 49882558
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 in innate antiviral immunity by mediating deubiquitination of CGAS and RIGI 1,2. Negatively regulates RIGI by mediating 'Lys-63'- linked deubiquitination of RIGI, inhibiting type I interferon signaling 3. Also regulates 'Lys-63'-linked ubiquitination level of MDA5/IFIH1 4. Acts as a positive regulator of the cGAS-STING pathway by catalyzing 'Lys-48'-linked deubiquitination of CGAS, thereby promoting its stabilization 5. Can reduce the levels of BCL2L11/BIM ubiquitination and stabilize BCL2L11 in response to the RAF-MAPK-degradation signal (By similarity). By acting on BCL2L11 levels, may counteract the anti-apoptotic effects of MAPK activity (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.
This gene encodes a member of the peptidase protein family. The encoded protein functions as a deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as a tumor suppressor by increasing levels of Bim to counteract anti-apoptotic signals in cancer cells. Mutations in this gene have been associated with X-linked cognitive disability. [provided by RefSeq, Dec 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 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 Hydrolases Peptidases Cysteine-type peptidases Metabolic proteins TMHMM 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
Show all
GO:0002376[immune system process] GO:0004197[cysteine-type endopeptidase activity] GO:0004843[cysteine-type deubiquitinase activity] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006508[proteolysis] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0016579[protein deubiquitination] GO:0016787[hydrolase activity] GO:0043065[positive regulation of apoptotic process] GO:0045087[innate immune response] GO:0050821[protein stabilization] GO:0051607[defense response to virus] GO:0060340[positive regulation of type I interferon-mediated signaling pathway] GO:0061578[Lys63-specific deubiquitinase activity] GO:0070536[protein K63-linked deubiquitination] GO:0071108[protein K48-linked deubiquitination] GO:1990380[Lys48-specific deubiquitinase activity]
The Human Protein Atlas project is funded
