Lysosomal acid glucosylceramidase
Details
- Name
- Lysosomal acid glucosylceramidase
- Kind
- protein
- Synonyms
- 3.2.1.45
- Acid beta-glucosidase
- Alglucerase
- Beta-GC
- Beta-glucocerebrosidase
- Beta-glucosylceramidase 1
- Cholesterol glucosyltransferase
- Cholesteryl-beta-glucosidase
- D-glucosyl-N-acylsphingosine glucohydrolase
- GBA
- GC
- GLUC
- Glucosylceramidase beta 1
- Imiglucerase
- Lysosomal acid GCase
- Lysosomal cholesterol glycosyltransferase
- Lysosomal galactosylceramidase
- Lysosomal glycosylceramidase
- SGTase
- Gene Name
- GBA1
- UniProtKB Entry
- P04062Swiss-Prot
- Organism
- Humans
- NCBI Taxonomy ID
- 9606
- Amino acid sequence
>lcl|BSEQ0001947|Lysosomal acid glucosylceramidase MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNAT YCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGF GGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDD FQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQP GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIA RDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAK ATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDW NLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
- Number of residues
- 536
- Molecular Weight
- 59715.745
- Theoretical pI
- 7.66
- GO Classification
- Functionsgalactosylceramidase activity / glucosyltransferase activity / scavenger receptor binding / signaling receptor binding / steryl-beta-glucosidase activityProcessesantigen processing and presentation / autophagosome organization / autophagy / beta-glucoside catabolic process / brain morphogenesis / cell maturation / cellular response to starvation / cerebellar Purkinje cell layer formation / cholesterol metabolic process / determination of adult lifespan / establishment of skin barrier / hematopoietic stem cell proliferation / homeostasis of number of cells / lipid glycosylation / lipid storage / lymphocyte migration / lysosome organization / microglia differentiation / microglial cell proliferation / motor behavior / negative regulation of neuron apoptotic process / negative regulation of protein-containing complex assembly / neuromuscular process / neuron apoptotic process / positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization / positive regulation of neuronal action potential / positive regulation of proteasomal ubiquitin-dependent protein catabolic process / positive regulation of protein lipidation / positive regulation of protein-containing complex disassembly / proteasome-mediated ubiquitin-dependent protein catabolic process / pyramidal neuron differentiation / regulation of lysosomal protein catabolic process / regulation of macroautophagy / regulation of TOR signaling / respiratory electron transport chain / response to dexamethasone / T cell differentiation in thymusComponentsendoplasmic reticulum / Golgi apparatus / lysosome / trans-Golgi network
- General Function
- 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 (PubMed:15916907, PubMed:24211208, PubMed:32144204, PubMed:9201993). Plays a central role in the degradation of complex lipids and the turnover of cellular membranes (PubMed:27378698). Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation (PubMed:19279011). Catalyzes the glucosylation of cholesterol, through a transglucosylation reaction where glucose is transferred from GlcCer to cholesterol (PubMed:24211208, PubMed:26724485, PubMed:32144204). 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) (PubMed:24211208). Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl 3-beta-D-glucoside to ceramide (Probable) (PubMed:26724485). Can also hydrolyze cholesteryl 3-beta-D-glucoside producing glucose and cholesterol (PubMed:24211208, PubMed:26724485). 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 (PubMed:32144204). 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 (PubMed:33361282)
- Specific Function
- galactosylceramidase activity
- Pfam Domain Function
- Signal Regions
- 1-39
- Transmembrane Regions
- Not Available
- Cellular Location
- Lysosome membrane
- Gene sequence
>lcl|BSEQ0020498|Glucosylceramidase (GBA) ATGGAGTTTTCAAGTCCTTCCAGAGAGGAATGTCCCAAGCCTTTGAGTAGGGTAAGCATC ATGGCTGGCAGCCTCACAGGATTGCTTCTACTTCAGGCAGTGTCGTGGGCATCAGGTGCC CGCCCCTGCATCCCTAAAAGCTTCGGCTACAGCTCGGTGGTGTGTGTCTGCAATGCCACA TACTGTGACTCCTTTGACCCCCCGACCTTTCCTGCCCTTGGTACCTTCAGCCGCTATGAG AGTACACGCAGTGGGCGACGGATGGAGCTGAGTATGGGGCCCATCCAGGCTAATCACACG GGCACAGGCCTGCTACTGACCCTGCAGCCAGAACAGAAGTTCCAGAAAGTGAAGGGATTT GGAGGGGCCATGACAGATGCTGCTGCTCTCAACATCCTTGCCCTGTCACCCCCTGCCCAA AATTTGCTACTTAAATCGTACTTCTCTGAAGAAGGAATCGGATATAACATCATCCGGGTA CCCATGGCCAGCTGTGACTTCTCCATCCGCACCTACACCTATGCAGACACCCCTGATGAT TTCCAGTTGCACAACTTCAGCCTCCCAGAGGAAGATACCAAGCTCAAGATACCCCTGATT CACCGAGCCCTGCAGTTGGCCCAGCGTCCCGTTTCACTCCTTGCCAGCCCCTGGACATCA CCCACTTGGCTCAAGACCAATGGAGCGGTGAATGGGAAGGGGTCACTCAAGGGACAGCCC GGAGACATCTACCACCAGACCTGGGCCAGATACTTTGTGAAGTTCCTGGATGCCTATGCT GAGCACAAGTTACAGTTCTGGGCAGTGACAGCTGAAAATGAGCCTTCTGCTGGGCTGTTG AGTGGATACCCCTTCCAGTGCCTGGGCTTCACCCCTGAACATCAGCGAGACTTCATTGCC CGTGACCTAGGTCCTACCCTCGCCAACAGTACTCACCACAATGTCCGCCTACTCATGCTG GATGACCAACGCTTGCTGCTGCCCCACTGGGCAAAGGTGGTACTGACAGACCCAGAAGCA GCTAAATATGTTCATGGCATTGCTGTACATTGGTACCTGGACTTTCTGGCTCCAGCCAAA GCCACCCTAGGGGAGACACACCGCCTGTTCCCCAACACCATGCTCTTTGCCTCAGAGGCC TGTGTGGGCTCCAAGTTCTGGGAGCAGAGTGTGCGGCTAGGCTCCTGGGATCGAGGGATG CAGTACAGCCACAGCATCATCACGAACCTCCTGTACCATGTGGTCGGCTGGACCGACTGG AACCTTGCCCTGAACCCCGAAGGAGGACCCAATTGGGTGCGTAACTTTGTCGACAGTCCC ATCATTGTAGACATCACCAAGGACACGTTTTACAAACAGCCCATGTTCTACCACCTTGGC CACTTCAGCAAGTTCATTCCTGAGGGCTCCCAGAGAGTGGGGCTGGTTGCCAGTCAGAAG AACGACCTGGACGCAGTGGCACTGATGCATCCCGATGGCTCTGCTGTTGTGGTCGTGCTA AACCGCTCCTCTAAGGATGTGCCTCTTACCATCAAGGATCCTGCTGTGGGCTTCCTGGAG ACAATCTCACCTGGCTACTCCATTCACACCTACCTGTGGCGTCGCCAGTGA
- Chromosome Location
- 1
- Locus
- 1q22
- External Identifiers
Resource Link UniProtKB ID P04062 UniProtKB Entry Name GBA1_HUMAN GenBank Protein ID 183008 GenBank Gene ID M16328 GeneCard ID GBA1 GenAtlas ID GBA HGNC ID HGNC:4177 PDB ID(s) 1OGS, 1Y7V, 2F61, 2J25, 2NSX, 2NT0, 2NT1, 2V3D, 2V3E, 2V3F, 2VT0, 2WCG, 2WKL, 2XWD, 2XWE, 3GXD, 3GXF, 3GXI, 3GXM, 3KE0, 3KEH, 3RIK, 3RIL, 5LVX, 6MOZ, 6Q1N, 6Q1P, 6Q6K, 6Q6L, 6Q6N, 6T13, 6TJJ, 6TJK, 6TJQ, 6TN1, 6YTP, 6YTR, 6YUT, 6YV3, 6Z39, 6Z3I, 7NWV, 8AWK, 8AWR, 8AX3, 8P3E, 8P41 KEGG ID hsa:2629 NCBI Gene ID 2629 - General References
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Associated Data
- Drug Relations
Drug Drug group Pharmacological action? Type Actions Details scyllo-inositol investigational unknown target Details N-acetyl-alpha-D-glucosamine experimental yes target inhibitor Details (2R,3R,4R,5S)-2-(HYDROXYMETHYL)-1-NONYLPIPERIDINE-3,4,5-TRIOL experimental unknown target Details Velaglucerase alfa approved, investigational unknown target Details (1S,2S,3R,6R)-4-(hydroxymethyl)-6-(octylamino)cyclohex-4-ene-1,2,3-triol experimental yes target inhibitor Details Afegostat experimental, investigational yes target inhibitor Details