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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 Plasma 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
14
Cytoband
q32.12
Chromosome location (bp)
92044496 - 92106621
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates 1,2,3,4,5,6. Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins 7. Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (By similarity). Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription 8. Acts as a negative regulator of mTORC1 signaling in response to amino acid deprivation by mediating deubiquitination of RHEB, thereby promoting RHEB inactivation by the TSC-TBC complex 9. Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1 10....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.
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 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 Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets 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:0000226[microtubule cytoskeleton organization] GO:0004843[cysteine-type deubiquitinase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005759[mitochondrial matrix] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006289[nucleotide-excision repair] GO:0006508[proteolysis] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006515[protein quality control for misfolded or incompletely synthesized proteins] GO:0007268[chemical synaptic transmission] GO:0007399[nervous system development] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0010810[regulation of cell-substrate adhesion] GO:0016363[nuclear matrix] GO:0016579[protein deubiquitination] GO:0016787[hydrolase activity] GO:0030036[actin cytoskeleton organization] GO:0031625[ubiquitin protein ligase binding] GO:0031966[mitochondrial membrane] GO:0034605[cellular response to heat] GO:0035520[monoubiquitinated protein deubiquitination] GO:0042405[nuclear inclusion body] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045104[intermediate filament cytoskeleton organization] GO:0045202[synapse] GO:0051117[ATPase binding] GO:0061578[Lys63-specific deubiquitinase activity] GO:0070536[protein K63-linked deubiquitination] GO:0071108[protein K48-linked deubiquitination] GO:0071218[cellular response to misfolded protein] GO:1904294[positive regulation of ERAD pathway] GO:1904379[protein localization to cytosolic proteasome complex involved in ERAD pathway] GO:1990380[Lys48-specific deubiquitinase activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Kim et al 2014) 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 (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets 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)
Show all
GO:0000226[microtubule cytoskeleton organization] GO:0004843[cysteine-type deubiquitinase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005759[mitochondrial matrix] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006289[nucleotide-excision repair] GO:0006508[proteolysis] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006515[protein quality control for misfolded or incompletely synthesized proteins] GO:0007268[chemical synaptic transmission] GO:0007399[nervous system development] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0010810[regulation of cell-substrate adhesion] GO:0016363[nuclear matrix] GO:0016579[protein deubiquitination] GO:0016787[hydrolase activity] GO:0030036[actin cytoskeleton organization] GO:0031625[ubiquitin protein ligase binding] GO:0031966[mitochondrial membrane] GO:0034605[cellular response to heat] GO:0035520[monoubiquitinated protein deubiquitination] GO:0042405[nuclear inclusion body] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045104[intermediate filament cytoskeleton organization] GO:0045202[synapse] GO:0051117[ATPase binding] GO:0061578[Lys63-specific deubiquitinase activity] GO:0070536[protein K63-linked deubiquitination] GO:0071108[protein K48-linked deubiquitination] GO:0071218[cellular response to misfolded protein] GO:1904294[positive regulation of ERAD pathway] GO:1904379[protein localization to cytosolic proteasome complex involved in ERAD pathway] GO:1990380[Lys48-specific deubiquitinase activity]
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets 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)
Show all
GO:0000226[microtubule cytoskeleton organization] GO:0004843[cysteine-type deubiquitinase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005759[mitochondrial matrix] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006289[nucleotide-excision repair] GO:0006508[proteolysis] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006515[protein quality control for misfolded or incompletely synthesized proteins] GO:0007268[chemical synaptic transmission] GO:0007399[nervous system development] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0010810[regulation of cell-substrate adhesion] GO:0016363[nuclear matrix] GO:0016579[protein deubiquitination] GO:0016787[hydrolase activity] GO:0030036[actin cytoskeleton organization] GO:0031625[ubiquitin protein ligase binding] GO:0031966[mitochondrial membrane] GO:0034605[cellular response to heat] GO:0035520[monoubiquitinated protein deubiquitination] GO:0042405[nuclear inclusion body] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045104[intermediate filament cytoskeleton organization] GO:0045202[synapse] GO:0051117[ATPase binding] GO:0061578[Lys63-specific deubiquitinase activity] GO:0070536[protein K63-linked deubiquitination] GO:0071108[protein K48-linked deubiquitination] GO:0071218[cellular response to misfolded protein] GO:1904294[positive regulation of ERAD pathway] GO:1904379[protein localization to cytosolic proteasome complex involved in ERAD pathway] GO:1990380[Lys48-specific deubiquitinase activity]
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)
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)
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)
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)
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)
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)
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)
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)
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)
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets 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)
Show all
GO:0000226[microtubule cytoskeleton organization] GO:0004843[cysteine-type deubiquitinase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005759[mitochondrial matrix] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006289[nucleotide-excision repair] GO:0006508[proteolysis] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006515[protein quality control for misfolded or incompletely synthesized proteins] GO:0007268[chemical synaptic transmission] GO:0007399[nervous system development] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0010810[regulation of cell-substrate adhesion] GO:0016363[nuclear matrix] GO:0016579[protein deubiquitination] GO:0016787[hydrolase activity] GO:0030036[actin cytoskeleton organization] GO:0031625[ubiquitin protein ligase binding] GO:0031966[mitochondrial membrane] GO:0034605[cellular response to heat] GO:0035520[monoubiquitinated protein deubiquitination] GO:0035640[exploration behavior] GO:0042405[nuclear inclusion body] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045104[intermediate filament cytoskeleton organization] GO:0045202[synapse] GO:0051117[ATPase binding] GO:0061578[Lys63-specific deubiquitinase activity] GO:0070536[protein K63-linked deubiquitination] GO:0071108[protein K48-linked deubiquitination] GO:0071218[cellular response to misfolded protein] GO:1904294[positive regulation of ERAD pathway] GO:1904379[protein localization to cytosolic proteasome complex involved in ERAD pathway] GO:1990380[Lys48-specific deubiquitinase activity]
The Human Protein Atlas project is funded
