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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
1
Cytoband
q22
Chromosome location (bp)
155234452 - 155244699
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramides/GlcCers (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) into free ceramides (such as N-acylsphing-4-enine) and glucose 1,2,3,4. Plays a central role in the degradation of complex lipids and the turnover of cellular membranes 5. Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation 6. Catalyzes the glucosylation of cholesterol, through a transglucosylation reaction where glucose is transferred from GlcCer to cholesterol 7,8,9. GlcCer containing mono-unsaturated fatty acids (such as beta-D-glucosyl-N-(9Z-octadecenoyl)-sphing-4-enine) are preferred as glucose donors for cholesterol glucosylation when compared with GlcCer containing same chain length of saturated fatty acids (such as beta-D-glucosyl-N-octadecanoyl-sphing-4-enine) 10. Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl 3-beta-D-glucoside to ceramide 11 (Probable). Can also hydrolyze cholesteryl 3-beta-D-glucoside producing glucose and cholesterol 12,13. Catalyzes the hydrolysis of galactosylceramides/GalCers (such as beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine), as well as the transfer of galactose between GalCers and cholesterol in vitro, but with lower activity than with GlcCers 14. Contrary to GlcCer and GalCer, xylosylceramide/XylCer (such as beta-D-xyosyl-(1<->1')-N-acylsphing-4-enine) is not a good substrate for hydrolysis, however it is a good xylose donor for transxylosylation activity to form cholesteryl 3-beta-D-xyloside 15....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 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 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 Metabolic proteins MEMSAT3 predicted membrane proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases 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:0004336[galactosylceramidase activity] GO:0004348[glucosylceramidase activity] GO:0005102[signaling receptor binding] GO:0005124[scavenger receptor binding] GO:0005515[protein binding] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005802[trans-Golgi network] GO:0006629[lipid metabolic process] GO:0006665[sphingolipid metabolic process] GO:0006680[glucosylceramide catabolic process] GO:0006914[autophagy] GO:0007040[lysosome organization] GO:0008152[metabolic process] GO:0008202[steroid metabolic process] GO:0008203[cholesterol metabolic process] GO:0016020[membrane] GO:0016241[regulation of macroautophagy] GO:0016740[transferase activity] GO:0016757[glycosyltransferase activity] GO:0016787[hydrolase activity] GO:0016798[hydrolase activity, acting on glycosyl bonds] GO:0019898[extrinsic component of membrane] GO:0023021[termination of signal transduction] GO:0030259[lipid glycosylation] GO:0031333[negative regulation of protein-containing complex assembly] GO:0032006[regulation of TOR signaling] GO:0032715[negative regulation of interleukin-6 production] GO:0035307[positive regulation of protein dephosphorylation] GO:0043202[lysosomal lumen] GO:0043243[positive regulation of protein-containing complex disassembly] GO:0043407[negative regulation of MAP kinase activity] GO:0046512[sphingosine biosynthetic process] GO:0046513[ceramide biosynthetic process] GO:0046527[glucosyltransferase activity] GO:0050295[steryl-beta-glucosidase activity] GO:0050728[negative regulation of inflammatory response] GO:0051246[regulation of protein metabolic process] GO:0051247[positive regulation of protein metabolic process] GO:0070062[extracellular exosome] GO:0071356[cellular response to tumor necrosis factor] GO:1901215[negative regulation of neuron death] GO:1903052[positive regulation of proteolysis involved in protein catabolic process] GO:1903061[positive regulation of protein lipidation] GO:1904457[positive regulation of neuronal action potential] GO:1905165[regulation of lysosomal protein catabolic process]
Enzymes ENZYME proteins Hydrolases Metabolic proteins MEMSAT3 predicted membrane proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases 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:0000423[mitophagy] GO:0004336[galactosylceramidase activity] GO:0004348[glucosylceramidase activity] GO:0005102[signaling receptor binding] GO:0005124[scavenger receptor binding] GO:0005515[protein binding] GO:0005615[extracellular space] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005802[trans-Golgi network] GO:0006629[lipid metabolic process] GO:0006665[sphingolipid metabolic process] GO:0006678[glucosylceramide metabolic process] GO:0006680[glucosylceramide catabolic process] GO:0006914[autophagy] GO:0007005[mitochondrion organization] GO:0007040[lysosome organization] GO:0007417[central nervous system development] GO:0008152[metabolic process] GO:0008202[steroid metabolic process] GO:0008203[cholesterol metabolic process] GO:0008340[determination of adult lifespan] GO:0008422[beta-glucosidase activity] GO:0009267[cellular response to starvation] GO:0009268[response to pH] GO:0014004[microglia differentiation] GO:0016020[membrane] GO:0016241[regulation of macroautophagy] GO:0016740[transferase activity] GO:0016757[glycosyltransferase activity] GO:0016787[hydrolase activity] GO:0016798[hydrolase activity, acting on glycosyl bonds] GO:0019882[antigen processing and presentation] GO:0019898[extrinsic component of membrane] GO:0019915[lipid storage] GO:0021694[cerebellar Purkinje cell layer formation] GO:0021859[pyramidal neuron differentiation] GO:0022904[respiratory electron transport chain] GO:0023021[termination of signal transduction] GO:0030259[lipid glycosylation] GO:0031333[negative regulation of protein-containing complex assembly] GO:0032006[regulation of TOR signaling] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0032715[negative regulation of interleukin-6 production] GO:0033077[T cell differentiation in thymus] GO:0033561[regulation of water loss via skin] GO:0033574[response to testosterone] GO:0035307[positive regulation of protein dephosphorylation] GO:0042391[regulation of membrane potential] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0043202[lysosomal lumen] GO:0043243[positive regulation of protein-containing complex disassembly] GO:0043407[negative regulation of MAP kinase activity] GO:0043524[negative regulation of neuron apoptotic process] GO:0043589[skin morphogenesis] GO:0043627[response to estrogen] GO:0046512[sphingosine biosynthetic process] GO:0046513[ceramide biosynthetic process] GO:0046527[glucosyltransferase activity] GO:0048469[cell maturation] GO:0048854[brain morphogenesis] GO:0048872[homeostasis of number of cells] GO:0050295[steryl-beta-glucosidase activity] GO:0050728[negative regulation of inflammatory response] GO:0050877[nervous system process] GO:0050905[neuromuscular process] GO:0051246[regulation of protein metabolic process] GO:0051247[positive regulation of protein metabolic process] GO:0051248[negative regulation of protein metabolic process] GO:0051402[neuron apoptotic process] GO:0061518[microglial cell proliferation] GO:0061744[motor behavior] GO:0070062[extracellular exosome] GO:0071356[cellular response to tumor necrosis factor] GO:0071425[hematopoietic stem cell proliferation] GO:0071548[response to dexamethasone] GO:0072676[lymphocyte migration] GO:0097066[response to thyroid hormone] GO:1901215[negative regulation of neuron death] GO:1901805[beta-glucoside catabolic process] GO:1903052[positive regulation of proteolysis involved in protein catabolic process] GO:1903061[positive regulation of protein lipidation] GO:1904457[positive regulation of neuronal action potential] GO:1904925[positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization] GO:1905037[autophagosome organization] GO:1905165[regulation of lysosomal protein catabolic process]
Enzymes ENZYME proteins Hydrolases Metabolic proteins MEMSAT3 predicted membrane proteins Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Lysosomal storage diseases 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:0004336[galactosylceramidase activity] GO:0004348[glucosylceramidase activity] GO:0005102[signaling receptor binding] GO:0005124[scavenger receptor binding] GO:0005515[protein binding] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005802[trans-Golgi network] GO:0006629[lipid metabolic process] GO:0006665[sphingolipid metabolic process] GO:0006680[glucosylceramide catabolic process] GO:0006914[autophagy] GO:0007040[lysosome organization] GO:0008152[metabolic process] GO:0008202[steroid metabolic process] GO:0008203[cholesterol metabolic process] GO:0016020[membrane] GO:0016241[regulation of macroautophagy] GO:0016740[transferase activity] GO:0016757[glycosyltransferase activity] GO:0016787[hydrolase activity] GO:0016798[hydrolase activity, acting on glycosyl bonds] GO:0019898[extrinsic component of membrane] GO:0023021[termination of signal transduction] GO:0030259[lipid glycosylation] GO:0031333[negative regulation of protein-containing complex assembly] GO:0032006[regulation of TOR signaling] GO:0032715[negative regulation of interleukin-6 production] GO:0035307[positive regulation of protein dephosphorylation] GO:0043202[lysosomal lumen] GO:0043243[positive regulation of protein-containing complex disassembly] GO:0043407[negative regulation of MAP kinase activity] GO:0046512[sphingosine biosynthetic process] GO:0046513[ceramide biosynthetic process] GO:0046527[glucosyltransferase activity] GO:0050295[steryl-beta-glucosidase activity] GO:0050728[negative regulation of inflammatory response] GO:0051246[regulation of protein metabolic process] GO:0051247[positive regulation of protein metabolic process] GO:0070062[extracellular exosome] GO:0071356[cellular response to tumor necrosis factor] GO:1901215[negative regulation of neuron death] GO:1903052[positive regulation of proteolysis involved in protein catabolic process] GO:1903061[positive regulation of protein lipidation] GO:1904457[positive regulation of neuronal action potential] GO:1905165[regulation of lysosomal protein catabolic process]
Enzymes ENZYME proteins Hydrolases Metabolic 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 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:0004336[galactosylceramidase activity] GO:0004348[glucosylceramidase activity] GO:0005102[signaling receptor binding] GO:0005124[scavenger receptor binding] GO:0005515[protein binding] GO:0005764[lysosome] GO:0005765[lysosomal membrane] GO:0005783[endoplasmic reticulum] GO:0005794[Golgi apparatus] GO:0005802[trans-Golgi network] GO:0006629[lipid metabolic process] GO:0006665[sphingolipid metabolic process] GO:0006680[glucosylceramide catabolic process] GO:0006914[autophagy] GO:0007040[lysosome organization] GO:0008152[metabolic process] GO:0008202[steroid metabolic process] GO:0008203[cholesterol metabolic process] GO:0016020[membrane] GO:0016241[regulation of macroautophagy] GO:0016740[transferase activity] GO:0016757[glycosyltransferase activity] GO:0016787[hydrolase activity] GO:0016798[hydrolase activity, acting on glycosyl bonds] GO:0019898[extrinsic component of membrane] GO:0023021[termination of signal transduction] GO:0030259[lipid glycosylation] GO:0031333[negative regulation of protein-containing complex assembly] GO:0032006[regulation of TOR signaling] GO:0032715[negative regulation of interleukin-6 production] GO:0035307[positive regulation of protein dephosphorylation] GO:0043202[lysosomal lumen] GO:0043243[positive regulation of protein-containing complex disassembly] GO:0043407[negative regulation of MAP kinase activity] GO:0046512[sphingosine biosynthetic process] GO:0046513[ceramide biosynthetic process] GO:0046527[glucosyltransferase activity] GO:0050295[steryl-beta-glucosidase activity] GO:0050728[negative regulation of inflammatory response] GO:0051246[regulation of protein metabolic process] GO:0051247[positive regulation of protein metabolic process] GO:0070062[extracellular exosome] GO:0071356[cellular response to tumor necrosis factor] GO:1901215[negative regulation of neuron death] GO:1903052[positive regulation of proteolysis involved in protein catabolic process] GO:1903061[positive regulation of protein lipidation] GO:1904457[positive regulation of neuronal action potential] GO:1905165[regulation of lysosomal protein catabolic process]
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