GBA3 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of GBA3 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of GBA3 at tissue level.

III. Associated gene sets

GO_0016139Biological processglycoside catabolic process
GO_0006683Biological processgalactosylceramide catabolic process
GO_1901805Biological processbeta-glucoside catabolic process
GO_0009313Biological processoligosaccharide catabolic process
GO_0050821Biological processprotein stabilization
GO_0046477Biological processglycosylceramide catabolic process
GO_1903017Biological processpositive regulation of exo-alpha-sialidase activity
GO_0006680Biological processglucosylceramide catabolic process
GO_0046479Biological processglycosphingolipid catabolic process
GO_1902494Cellular componentcatalytic complex
GO_0005829Cellular componentcytosol
GO_0004336Molecular functiongalactosylceramidase activity
GO_0102483Molecular functionscopolin beta-glucosidase activity
GO_0004565Molecular functionbeta-galactosidase activity
GO_0008422Molecular functionbeta-glucosidase activity
GO_0005515Molecular functionprotein binding
GO_0017042Molecular functionglycosylceramidase activity
GO_0004348Molecular functionglucosylceramidase activity

IV. Literature review

[source]
Gene nameGBA3
Protein nameGlucosidase, beta, acid 3 (Cytosolic) (cDNA FLJ78196, highly similar to Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), mRNA) (cDNA, FLJ93688, Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), mRNA)
Cytosolic beta-glucosidase (EC 3.2.1.21) (Cytosolic beta-glucosidase-like protein 1) (Cytosolic galactosylceramidase) (EC 3.2.1.46) (Cytosolic glucosylceramidase) (EC 3.2.1.45) (Cytosolic glycosylceramidase) (Cytosolic GCase) (Glucosidase beta acid 3) (Glucosylceramidase beta 3) (Klotho-related protein) (KLrP)
SynonymsCBG
CBGL1
hCG_40508
DescriptionFUNCTION: Neutral cytosolic beta-glycosidase with a broad substrate specificity that could play a role in the catabolism of glycosylceramides . Has a significant glucosylceramidase activity in vitro . However, that activity is relatively low and its significance in vivo is not clear . Hydrolyzes galactosylceramides/GalCers, glucosylsphingosines/GlcSphs and galactosylsphingosines/GalSphs . However, the in vivo relevance of these activities is unclear . It can also hydrolyze a broad variety of dietary glycosides including phytoestrogens, flavonols, flavones, flavanones and cyanogens in vitro and could therefore play a role in the metabolism of xenobiotics . Possesses transxylosylase activity in vitro using xylosylated ceramides/XylCers (such as beta-D-xylosyl-(1<->1')-N-acylsphing-4-enine) as xylosyl donors and cholesterol as acceptor . Could also play a role in the catabolism of cytosolic sialyl free N-glycans . .

AccessionsA8K9N1
ENST00000709220.1 [Q9H227-1]
Q9H227
ENST00000709221.1 [Q9H227-2]