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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
8
Cytoband
p22
Chromosome location (bp)
18055992 - 18084998
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH 1,2,3,4,5,6,7. 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 8. Has a higher catalytic efficiency towards C12-ceramides versus other ceramides 9,10. Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine 11,12. For the reverse synthetic reaction, the natural sphingosine D-erythro isomer is more efficiently utilized as a substrate compared to D-erythro-dihydrosphingosine and D-erythro-phytosphingosine, while the fatty acids with chain lengths of 12 or 14 carbons are the most efficiently used 13. Has also an N-acylethanolamine hydrolase activity 14. By regulating the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes 15. Also indirectly regulates tumor necrosis factor/TNF-induced apoptosis (By similarity). By regulating the intracellular balance between ceramides and sphingosine, in adrenocortical cells, probably also acts as a regulator of steroidogenesis 16....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
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]...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 Metabolic proteins MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage 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:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006665[sphingolipid metabolic process] GO:0016787[hydrolase activity] GO:0016810[hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds] GO:0016811[hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides] GO:0017040[N-acylsphingosine amidohydrolase activity] GO:0017064[fatty acid amide hydrolase activity] GO:0030216[keratinocyte differentiation] GO:0043202[lysosomal lumen] GO:0046512[sphingosine biosynthetic process] GO:0046513[ceramide biosynthetic process] GO:0046514[ceramide catabolic process] GO:0050810[regulation of steroid biosynthetic process] GO:0062098[regulation of programmed necrotic cell death] GO:0070062[extracellular exosome] GO:0071356[cellular response to tumor necrosis factor] GO:0102121[ceramidase activity] GO:1904724[tertiary granule lumen] GO:1904813[ficolin-1-rich granule lumen]
Enzymes ENZYME proteins Hydrolases Metabolic proteins MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage 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:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006665[sphingolipid metabolic process] GO:0016787[hydrolase activity] GO:0016810[hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds] GO:0016811[hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides] GO:0016922[nuclear receptor binding] GO:0017040[N-acylsphingosine amidohydrolase activity] GO:0017064[fatty acid amide hydrolase activity] GO:0030216[keratinocyte differentiation] GO:0043202[lysosomal lumen] GO:0045892[negative regulation of DNA-templated transcription] GO:0046512[sphingosine biosynthetic process] GO:0046513[ceramide biosynthetic process] GO:0046514[ceramide catabolic process] GO:0050810[regulation of steroid biosynthetic process] GO:0062098[regulation of programmed necrotic cell death] GO:0070062[extracellular exosome] GO:0071356[cellular response to tumor necrosis factor] GO:0102121[ceramidase activity] GO:1903507[negative regulation of nucleic acid-templated transcription] GO:1904724[tertiary granule lumen] GO:1904813[ficolin-1-rich granule lumen]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
