GBA1 report

I. Expression across cell types

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of GBA1 at tissue level.

III. Associated gene sets

GO_0007040Biological processlysosome organization
GO_0033574Biological processresponse to testosterone
GO_0021694Biological processcerebellar Purkinje cell layer formation
GO_0072676Biological processlymphocyte migration
GO_1903061Biological processpositive regulation of protein lipidation
GO_1904457Biological processpositive regulation of neuronal action potential
GO_0061518Biological processmicroglial cell proliferation
GO_0043627Biological processresponse to estrogen
GO_0097066Biological processresponse to thyroid hormone
GO_0061436Biological processestablishment of skin barrier
GO_0032715Biological processnegative regulation of interleukin-6 production
GO_0061744Biological processmotor behavior
GO_0008340Biological processdetermination of adult lifespan
GO_0031175Biological processneuron projection development
GO_0032436Biological processpositive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO_0008203Biological processcholesterol metabolic process
GO_0031333Biological processnegative regulation of protein-containing complex assembly
GO_1905165Biological processregulation of lysosomal protein catabolic process
GO_1904925Biological processpositive regulation of autophagy of mitochondrion in response to mitochondrial depolarization
GO_0048872Biological processhomeostasis of number of cells
GO_0050905Biological processneuromuscular process
GO_0009267Biological processcellular response to starvation
GO_0009268Biological processresponse to pH
GO_0023021Biological processtermination of signal transduction
GO_0046513Biological processceramide biosynthetic process
GO_0071425Biological processhematopoietic stem cell proliferation
GO_0033077Biological processT cell differentiation in thymus
GO_0071548Biological processresponse to dexamethasone
GO_0071356Biological processcellular response to tumor necrosis factor
GO_0051402Biological processneuron apoptotic process
GO_1905037Biological processautophagosome organization
GO_0021859Biological processpyramidal neuron differentiation
GO_0007005Biological processmitochondrion organization
GO_0050728Biological processnegative regulation of inflammatory response
GO_0019915Biological processlipid storage
GO_0014004Biological processmicroglia differentiation
GO_0043243Biological processpositive regulation of protein-containing complex disassembly
GO_0022904Biological processrespiratory electron transport chain
GO_0046512Biological processsphingosine biosynthetic process
GO_0048854Biological processbrain morphogenesis
GO_0043407Biological processnegative regulation of MAP kinase activity
GO_0019882Biological processantigen processing and presentation
GO_0006914Biological processautophagy
GO_0016241Biological processregulation of macroautophagy
GO_1901805Biological processbeta-glucoside catabolic process
GO_0030259Biological processlipid glycosylation
GO_0043524Biological processnegative regulation of neuron apoptotic process
GO_0048469Biological processcell maturation
GO_0032006Biological processregulation of TOR signaling
GO_0043161Biological processproteasome-mediated ubiquitin-dependent protein catabolic process
GO_0035307Biological processpositive regulation of protein dephosphorylation
GO_0006680Biological processglucosylceramide catabolic process
GO_0005764Cellular componentlysosome
GO_0070062Cellular componentextracellular exosome
GO_0005794Cellular componentGolgi apparatus
GO_0005802Cellular componenttrans-Golgi network
GO_0005783Cellular componentendoplasmic reticulum
GO_0043202Cellular componentlysosomal lumen
GO_0005765Cellular componentlysosomal membrane
GO_0004336Molecular functiongalactosylceramidase activity
GO_0050295Molecular functionsteryl-beta-glucosidase activity
GO_0046527Molecular functionglucosyltransferase activity
GO_0005102Molecular functionsignaling receptor binding
GO_0005124Molecular functionscavenger receptor binding
GO_0005515Molecular functionprotein binding
GO_0004348Molecular functionglucosylceramidase activity

IV. Literature review

[source]
Gene nameGBA1
Protein nameLysosomal acid glucosylceramidase (Lysosomal acid GCase) (EC 3.2.1.45) (Acid beta-glucosidase) (Alglucerase) (Beta-glucocerebrosidase) (Beta-GC) (Beta-glucosylceramidase 1) (Cholesterol glucosyltransferase) (SGTase) (EC 2.4.1.-) (Cholesteryl-beta-glucosidase) (EC 3.2.1.-) (D-glucosyl-N-acylsphingosine glucohydrolase) (Glucosylceramidase beta 1) (Imiglucerase) (Lysosomal cholesterol glycosyltransferase) (Lysosomal galactosylceramidase) (EC 3.2.1.46) (Lysosomal glycosylceramidase)
Glucosylceramidase (EC 3.2.1.45)
SynonymsGLUC
GC
GBA
DescriptionFUNCTION: 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 . Plays a central role in the degradation of complex lipids and the turnover of cellular membranes . Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation . Catalyzes the glucosylation of cholesterol, through a transglucosylation reaction where glucose is transferred from GlcCer to cholesterol . 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) . Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl 3-beta-D-glucoside to ceramide (Probable). Can also hydrolyze cholesteryl 3-beta-D-glucoside producing glucose and cholesterol . 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 . 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 . .

AccessionsENST00000428024.3 [P04062-4]
ENST00000574670.5
ENST00000427500.7 [P04062-5]
A0A0G2JLB3
P04062
ENST00000327247.9 [P04062-1]
ENST00000613861.4
A0A0G2JNZ5
ENST00000618489.1
A0A068F658
ENST00000572338.5
A0A0G2JNZ0
ENST00000368373.8 [P04062-1]