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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).
Cancer-related genes Enzymes Metabolic proteins
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)
92703807 - 92748679
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Has a strict specificity for hydrolysis of asparaginyl bonds. Can also cleave aspartyl bonds slowly, especially under acidic conditions. Required for normal lysosomal protein degradation in renal proximal tubules. Required for normal degradation of internalized EGFR. Plays a role in the regulation of cell proliferation via its role in EGFR degradation (By similarity). May be involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase, Protease, Thiol protease
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Several alternatively spliced transcript variants have been described, but the biological validity of only two has been determined. These two variants encode the same isoform. [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 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 Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Cancer-related genes Candidate cancer biomarkers 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:0003014[renal system process] GO:0004197[cysteine-type endopeptidase activity] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005770[late endosome] GO:0006508[proteolysis] GO:0006624[vacuolar protein processing] GO:0007613[memory] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0008284[positive regulation of cell population proliferation] GO:0008306[associative learning] GO:0010447[response to acidic pH] GO:0010629[negative regulation of gene expression] GO:0016787[hydrolase activity] GO:0019886[antigen processing and presentation of exogenous peptide antigen via MHC class II] GO:0032801[receptor catabolic process] GO:0035729[cellular response to hepatocyte growth factor stimulus] GO:0036021[endolysosome lumen] GO:0040015[negative regulation of multicellular organism growth] GO:0042359[vitamin D metabolic process] GO:0043202[lysosomal lumen] GO:0043524[negative regulation of neuron apoptotic process] GO:0045177[apical part of cell] GO:0045931[positive regulation of mitotic cell cycle] GO:0048156[tau protein binding] GO:0048471[perinuclear region of cytoplasm] GO:0051603[proteolysis involved in protein catabolic process] GO:0070062[extracellular exosome] GO:0071277[cellular response to calcium ion] GO:0090026[positive regulation of monocyte chemotaxis] GO:0097061[dendritic spine organization] GO:0097202[activation of cysteine-type endopeptidase activity] GO:0097264[self proteolysis] GO:0110165[cellular anatomical entity] GO:1900273[positive regulation of long-term synaptic potentiation] GO:1901185[negative regulation of ERBB signaling pathway] GO:1904646[cellular response to amyloid-beta] GO:2001028[positive regulation of endothelial cell chemotaxis]
Enzymes ENZYME proteins Hydrolases Peptidases Cysteine-type peptidases Metabolic proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Cancer-related genes Candidate cancer biomarkers Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003014[renal system process] GO:0004197[cysteine-type endopeptidase activity] GO:0005576[extracellular region] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005770[late endosome] GO:0006508[proteolysis] GO:0006624[vacuolar protein processing] GO:0007613[memory] GO:0008233[peptidase activity] GO:0008234[cysteine-type peptidase activity] GO:0008284[positive regulation of cell population proliferation] GO:0008306[associative learning] GO:0010447[response to acidic pH] GO:0010629[negative regulation of gene expression] GO:0016787[hydrolase activity] GO:0019886[antigen processing and presentation of exogenous peptide antigen via MHC class II] GO:0032801[receptor catabolic process] GO:0035729[cellular response to hepatocyte growth factor stimulus] GO:0036021[endolysosome lumen] GO:0042359[vitamin D metabolic process] GO:0043202[lysosomal lumen] GO:0043524[negative regulation of neuron apoptotic process] GO:0045931[positive regulation of mitotic cell cycle] GO:0048156[tau protein binding] GO:0048471[perinuclear region of cytoplasm] GO:0051603[proteolysis involved in protein catabolic process] GO:0070062[extracellular exosome] GO:0071277[cellular response to calcium ion] GO:0090026[positive regulation of monocyte chemotaxis] GO:0097061[dendritic spine organization] GO:0097202[activation of cysteine-type endopeptidase activity] GO:0097264[self proteolysis] GO:0110165[cellular anatomical entity] GO:1900273[positive regulation of long-term synaptic potentiation] GO:1901185[negative regulation of ERBB signaling pathway] GO:1904646[cellular response to amyloid-beta] GO:2001028[positive regulation of endothelial cell chemotaxis]
Metabolic proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
