Names & Taxonomy

Uniprot ID:
Q9HCG7
Entry Name:
GBA2_HUMAN
Status:
reviewed
Protein Names:
Non-lysosomal glucosylceramidase (NLGase) (EC 3.2.1.45) (Beta-glucocerebrosidase 2) (Beta-glucosidase 2) (Glucosylceramidase 2)
Gene Names:
GBA2 KIAA1605 AD035
Gene Names Orf:
AD035
Gene Names Primary:
GBA2
Organism:
Homo sapiens (Human)

Structure

Length:
927
Sequence:
MGTQDPGNMGTGVPASEQISCAKEDPQVYCPEETGGTKDVQVTDCKSPEDSRPPKETDCCNPEDSGQLMVSYEGKAMGYQVPPFGWRICLAHEFTEKRKPFQANNVSLSNMIKHIGMGLRYLQWWYRKTHVEKKTPFIDMINSVPLRQIYGCPLGGIGGGTITRGWRGQFCRWQLNPGMYQHRTVIADQFTVCLRREGQTVYQQVLSLERPSVLRSWNWGLCGYFAFYHALYPRAWTVYQLPGQNVTLTCRQITPILPHDYQDSSLPVGVFVWDVENEGDEALDVSIMFSMRNGLGGGDDAPGGLWNEPFCLERSGETVRGLLLHHPTLPNPYTMAVAARVTAATTVTHITAFDPDSTGQQVWQDLLQDGQLDSPTGQSTPTQKGVGIAGAVCVSSKLRPRGQCRLEFSLAWDMPRIMFGAKGQVHYRRYTRFFGQDGDAAPALSHYALCRYAEWEERISAWQSPVLDDRSLPAWYKSALFNELYFLADGGTVWLEVLEDSLPEELGRNMCHLRPTLRDYGRFGYLEGQEYRMYNTYDVHFYASFALIMLWPKLELSLQYDMALATLREDLTRRRYLMSGVMAPVKRRNVIPHDIGDPDDEPWLRVNAYLIHDTADWKDLNLKFVLQVYRDYYLTGDQNFLKDMWPVCLAVMESEMKFDKDHDGLIENGGYADQTYDGWVTTGPSAYCGGLWLAAVAVMVQMAALCGAQDIQDKFSSILSRGQEAYERLLWNGRYYNYDSSSRPQSRSVMSDQCAGQWFLKACGLGEGDTEVFPTQHVVRALQTIFELNVQAFAGGAMGAVNGMQPHGVPDKSSVQSDEVWVGVVYGLAATMIQEGLTWEGFQTAEGCYRTVWERLGLAFQTPEAYCQQRVFRSLAYMRPLSIWAMQLALQQQQHKKASWPKVKQGTGLRTGPMFGPKEAMANLSPE
Proteomes:
UP000005640

Subcellular location

Subcellular Location:
Endoplasmic reticulum membrane

Function

Function:
Non-lysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide (GlcCer) to free glucose and ceramide. Involved in sphingomyelin generation and prevention of glycolipid accumulation. May also catalyze the hydrolysis of bile acid 3-O-glucosides, however, the relevance of such activity is unclear in vivo. Plays a role in central nevous system development. Required for proper formation of motor neuron axons.
Catalytic Activity:
D-glucosyl-N-acylsphingosine + H(2)O = D-glucose + N-acylsphingosine.
Kinetics:
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=1.7 uM for 3-beta-D-glucosido-lithocholic
Enzyme Regulation:
ENZYME REGULATION: Enzymatic activity is dependent on membrane association and requires the presence of lipids.
Gene Ontology Go:
endoplasmic reticulum membrane
Golgi membrane
integral component of membrane
plasma membrane
smooth endoplasmic reticulum
beta-glucosidase activity
glucosylceramidase activity
bile acid metabolic process
central nervous system neuron development
glucosylceramide catabolic process
glycoside catabolic process
glycosphingolipid metabolic process
small molecule metabolic process
sphingolipid metabolic process
Gene Ontology Biological Process:
bile acid metabolic process
central nervous system neuron development
glucosylceramide catabolic process
glycoside catabolic process
glycosphingolipid metabolic process
small molecule metabolic process
sphingolipid metabolic process
Gene Ontology Molecular Function:
beta-glucosidase activity
glucosylceramidase activity
Gene Ontology Cellular Component:
endoplasmic reticulum membrane
Golgi membrane
integral component of membrane
plasma membrane
smooth endoplasmic reticulum
Keywords:
Alternative splicing
Complete proteome
Direct protein sequencing
Disease mutation
Endoplasmic reticulum
Glycosidase
Golgi apparatus
Hereditary spastic paraplegia
Hydrolase
Lipid metabolism
Membrane
Neurodegeneration
Reference proteome
Sphingolipid metabolism

Publication

PubMed ID:
11489889 10997877 14702039 17974005 15164053 15489334 9111029 17105727 23332916 23332917