Names & Taxonomy

Uniprot ID:
P04062
Entry Name:
GLCM_HUMAN
Status:
reviewed
Protein Names:
Glucosylceramidase (EC 3.2.1.45) (Acid beta-glucosidase) (Alglucerase) (Beta-glucocerebrosidase) (Beta-GC) (D-glucosyl-N-acylsphingosine glucohydrolase) (Imiglucerase)
Gene Names:
GBA GC GLUC
Gene Names Primary:
GBA
Organism:
Homo sapiens (Human)

Structure

Length:
536
Sequence:
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
Proteomes:
UP000005640

Subcellular location

Subcellular Location:
Lysosome membrane

Function

Catalytic Activity:
D-glucosyl-N-acylsphingosine + H(2)O = D-glucose + N-acylsphingosine.
Enzyme Regulation:
ENZYME REGULATION: Requires saposin-C and anionic phospholipids for activity.
Active Site:
ACT_SITE 274 274 Proton donor.
Cross Reference Drug Bank:
DB06720
Gene Ontology Go:
extracellular exosome
lysosomal lumen
lysosomal membrane
glucosylceramidase activity
receptor binding
carbohydrate metabolic process
cellular response to starvation
cellular response to tumor necrosis factor
ceramide biosynthetic process
glucosylceramide catabolic process
glycosphingolipid metabolic process
negative regulation of inflammatory response
negative regulation of interleukin-6 production
negative regulation of MAP kinase activity
positive regulation of macroautophagy
positive regulation of protein dephosphorylation
positive regulation of proteolysis involved in cellular protein catabolic process
regulation of macroautophagy
regulation of proteasomal ubiquitin-dependent protein catabolic process
regulation of water loss via skin
response to estrogen
response to glucocorticoid
response to pH
response to testosterone
response to thyroid hormone
skin morphogenesis
small molecule metabolic process
sphingolipid metabolic process
sphingosine biosynthetic process
termination of signal transduction
Gene Ontology Biological Process:
carbohydrate metabolic process
cellular response to starvation
cellular response to tumor necrosis factor
ceramide biosynthetic process
glucosylceramide catabolic process
glycosphingolipid metabolic process
negative regulation of inflammatory response
negative regulation of interleukin-6 production
negative regulation of MAP kinase activity
positive regulation of macroautophagy
positive regulation of protein dephosphorylation
positive regulation of proteolysis involved in cellular protein catabolic process
regulation of macroautophagy
regulation of proteasomal ubiquitin-dependent protein catabolic process
regulation of water loss via skin
response to estrogen
response to glucocorticoid
response to pH
response to testosterone
response to thyroid hormone
skin morphogenesis
small molecule metabolic process
sphingolipid metabolic process
sphingosine biosynthetic process
termination of signal transduction
Gene Ontology Molecular Function:
glucosylceramidase activity
receptor binding
Gene Ontology Cellular Component:
extracellular exosome
lysosomal lumen
lysosomal membrane
Keywords:
3D-structure
Alternative initiation
Alternative splicing
Complete proteome
Direct protein sequencing
Disease mutation
Disulfide bond
Gaucher disease
Glycoprotein
Glycosidase
Hydrolase
Ichthyosis
Lipid metabolism
Lysosome
Membrane
Neurodegeneration
Parkinson disease
Parkinsonism
Pharmaceutical
Polymorphism
Reference proteome
Signal
Sphingolipid metabolism
Interacts With:
O35114

Publication

PubMed ID:
3864160 3001061 2914709 1572652 8294033 9331372 14702039 16710414 15489334 3359914 3687939 6091633 3456607 7908905 10781797 12754519 18022370 17897319 19286695 19159218 21269460 12792654 15817452 16293621 17139081 17187079 8118460 8889578 10527671 10649495 1974409 1972019 8432537 7916532 8112750 8076951 8790604 7627184 7627192 8937765 8829654 8829663 8889591 8780099 9182788 9217217 9279145 9153297 9061570 9040001 9554454 9683600 9637431 9516376 9851895 9650766 9554746 10206680 10340647 10360404 10744424 10352942 10447266 10796875 11992489 11933202 12204005 12847165 15292921 15826241 15605411 16148263 17620502 18332251 19846850