We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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
2
Cytoband
p13.1
Chromosome location (bp)
74529596 - 74533350
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Serine protease that shows proteolytic activity against a non-specific substrate beta-casein. Promotes or induces cell death either by direct binding to and inhibition of BIRC proteins (also called inhibitor of apoptosis proteins, IAPs), leading to an increase in caspase activity, or by a BIRC inhibition-independent, caspase-independent and serine protease activity-dependent mechanism. Cleaves THAP5 and promotes its degradation during apoptosis. Isoform 2 seems to be proteolytically inactive....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase, Protease, Serine protease
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a serine protease. The protein has been localized in the endoplasmic reticulum and interacts with an alternatively spliced form of mitogen-activated protein kinase 14. The protein has also been localized to the mitochondria with release to the cytosol following apoptotic stimulus. The protein is thought to induce apoptosis by binding the apoptosis inhibitory protein baculoviral IAP repeat-containing 4. Nuclear localization of this protein has also been observed. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [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 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 Serine-type peptidases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of amino acid metabolism 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:0000785[chromatin] GO:0004222[metalloendopeptidase activity] GO:0004252[serine-type endopeptidase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005739[mitochondrion] GO:0005758[mitochondrial intermembrane space] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0006508[proteolysis] GO:0006672[ceramide metabolic process] GO:0006915[apoptotic process] GO:0007005[mitochondrion organization] GO:0007568[aging] GO:0007628[adult walking behavior] GO:0008233[peptidase activity] GO:0008236[serine-type peptidase activity] GO:0008344[adult locomotory behavior] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0009635[response to herbicide] GO:0009898[cytoplasmic side of plasma membrane] GO:0010822[positive regulation of mitochondrion organization] GO:0012501[programmed cell death] GO:0016020[membrane] GO:0016540[protein autoprocessing] GO:0016787[hydrolase activity] GO:0019742[pentacyclic triterpenoid metabolic process] GO:0030163[protein catabolic process] GO:0030900[forebrain development] GO:0031966[mitochondrial membrane] GO:0034599[cellular response to oxidative stress] GO:0034605[cellular response to heat] GO:0035458[cellular response to interferon-beta] GO:0035631[CD40 receptor complex] GO:0040014[regulation of multicellular organism growth] GO:0042802[identical protein binding] GO:0043065[positive regulation of apoptotic process] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0045786[negative regulation of cell cycle] GO:0048666[neuron development] GO:0051082[unfolded protein binding] GO:0060548[negative regulation of cell death] GO:0071300[cellular response to retinoic acid] GO:0071363[cellular response to growth factor stimulus] GO:0097193[intrinsic apoptotic signaling pathway] GO:0097194[execution phase of apoptosis] GO:1901215[negative regulation of neuron death] GO:1902176[negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway] GO:1903146[regulation of autophagy of mitochondrion] GO:1903955[positive regulation of protein targeting to mitochondrion] GO:1904924[negative regulation of mitophagy in response to mitochondrial depolarization] GO:1905370[serine-type endopeptidase complex] GO:2001241[positive regulation of extrinsic apoptotic signaling pathway in absence of ligand] GO:2001269[positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway]