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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).
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
9
Cytoband
p22.1
Chromosome location (bp)
19409009 - 19452505
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Golgi ceramidase that catalyzes the hydrolysis of ceramides into sphingoid bases like sphingosine and free fatty acids at alkaline pH 1,2,3,4. Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation 5. Has a better catalytic efficiency towards unsaturated long-chain ceramides, including C18:1-, C20:1- and C24:1-ceramides 6,7,8,9. Saturated long-chain ceramides and unsaturated very long-chain ceramides are also good substrates, whereas saturated very long-chain ceramides and short-chain ceramides are poor substrates 10. Also hydrolyzes dihydroceramides to produce dihydrosphingosine 11,12. It is the ceramidase that controls the levels of circulating sphingosine-1-phosphate and dihydrosphingosine-1-phosphate in plasma through their production by hematopoietic cells (By similarity). Regulates cell proliferation, autophagy and apoptosis by the production of sphingosine and sphingosine-1-phosphate 13,14,15,16. As part of a p53/TP53-dependent pathway, promotes for instance autophagy and apoptosis in response to DNA damage 17,18,19. Through the production of sphingosine, may also regulate the function of the Golgi complex and regulate the glycosylation of proteins 20....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Lipid metabolism, Sphingolipid metabolism
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
The sphingolipid metabolite sphingosine-1-phosphate promotes cell proliferation and survival, whereas its precursor, sphingosine, has the opposite effect. The ceramidase ACER2 hydrolyzes very long chain ceramides to generate sphingosine (Xu et al., 2006).[supplied by OMIM, Jul 2010]...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.
GO:0000139[Golgi membrane] GO:0001953[negative regulation of cell-matrix adhesion] GO:0005794[Golgi apparatus] GO:0006629[lipid metabolic process] GO:0006665[sphingolipid metabolic process] GO:0006672[ceramide metabolic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0006974[cellular response to DNA damage stimulus] GO:0008284[positive regulation of cell population proliferation] GO:0010506[regulation of autophagy] GO:0010942[positive regulation of cell death] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016787[hydrolase activity] GO:0016811[hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides] GO:0017040[N-acylsphingosine amidohydrolase activity] GO:0030148[sphingolipid biosynthetic process] GO:0030330[DNA damage response, signal transduction by p53 class mediator] GO:0032526[response to retinoic acid] GO:0033629[negative regulation of cell adhesion mediated by integrin] GO:0042981[regulation of apoptotic process] GO:0046512[sphingosine biosynthetic process] GO:0046514[ceramide catabolic process] GO:0046872[metal ion binding] GO:0060049[regulation of protein glycosylation] GO:0071466[cellular response to xenobiotic stimulus] GO:0071633[dihydroceramidase activity] GO:0102121[ceramidase activity]