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MGP005669

UniProt Annotations

Entry Information
Gene Nameglucosidase, beta (bile acid) 2
Protein EntryGBA2_HUMAN
UniProt IDQ9HCG7
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9HCG7-1; Sequence=Displayed; Name=2; IsoId=Q9HCG7-2; Sequence=VSP_024384; Note=No experimental confirmation available.; Name=3; IsoId=Q9HCG7-3; Sequence=VSP_024383; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=1.7 uM for 3-beta-D-glucosido-lithocholic {ECO:0000269|PubMed:9111029}; KM=6.2 uM for 3-beta-D-glucosido-chenodeoxycholic {ECO:0000269|PubMed:9111029}; KM=210 uM for beta-D-glucoside {ECO:0000269|PubMed:9111029};
Catalytic ActivityD-glucosyl-N-acylsphingosine + H(2)O = D- glucose + N-acylsphingosine. {ECO:0000269|PubMed:11489889}.
DiseaseSpastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409]: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. {ECO:0000269|PubMed:23332916, ECO:0000269|PubMed:23332917}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationEnzymatic activity is dependent on membrane association and requires the presence of lipids. {ECO:0000250}.
FunctionNon-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. {ECO:0000269|PubMed:17105727, ECO:0000269|PubMed:23332916}.
Sequence CautionSequence=AAG44660.1; Type=Frameshift; Positions=649, 691; Evidence={ECO:0000305}; Sequence=BAB13431.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the non-lysosomal glucosylceramidase family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Not localized to lipid rafts. {ECO:0000269|PubMed:17105727}.
Tissue SpecificityWidely expressed. Highly expressed in brain, heart, skeletal muscle, kidney and placenta and expressed at lower level in liver. {ECO:0000269|PubMed:11489889}.
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