Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	-	536	1q22	GBA1	glucosylceramidase beta 1
Mouse	-	515	3 39.01 cM	Gba	glucosidase, beta, acid
Rat	-	515	2q34	Gba	glucosylceramidase beta

Previous and Unofficial Names

glucosidase, beta, acid | GBA | glucosidase | acid beta-glucosidase | beta-glucocerebrosidase | GLUC | glucosylceramidase | GBA1

Database Links
Alphafold	P04062 (Hs), P17439 (Mm)
BRENDA	3.2.1.21, 3.2.1.45
ChEMBL Target	CHEMBL2179 (Hs), CHEMBL2278 (Mm)
Ensembl Gene	ENSG00000177628 (Hs), ENSMUSG00000028048 (Mm), ENSRNOG00000049281 (Rn)
Entrez Gene	2629 (Hs), 14466 (Mm), 684536 (Rn)
Human Protein Atlas	ENSG00000177628 (Hs)
KEGG Enzyme	3.2.1.21, 3.2.1.45
KEGG Gene	hsa:2629 (Hs), mmu:14466 (Mm), rno:684536 (Rn)
OMIM	606463 (Hs)
Pharos	P04062 (Hs)
RefSeq Nucleotide	NM_000157 (Hs), NM_008094 (Mm), NM_001127639 (Rn)
RefSeq Protein	NP_000148 (Hs), NP_032120 (Mm), NP_001121111 (Rn)
UniProtKB	P04062 (Hs), P17439 (Mm)
Wikipedia	GBA1 (Hs)

Enzyme Reaction
EC Number: 3.2.1.21 Description Reaction Reference Hydrolysis of terminal, non-reducing β-D-glucosyl residues with release of β-D-glucose. EC Number: 3.2.1.45 Description Reaction Reference D-glucosyl-N-acylsphingosine + H2O <=> D-glucose + N-acylsphingosine

Activator Comments

Ambroxol and NCGC607 increase GCase activity within lysosomes, but this effect is an indirect one. The compounds act as chaperones that improve GCase transport from the ER to lysosomes. Ambroxol binds to the GCase catalytic site, so has direct inhibitory potential, whereas NCGC607 has been determined to be noninhibitory [1].

Other Binding Ligands
Key to terms and symbols		Click column headers to sort
Ligand Sp. Action Value Parameter Reference ambroxol Hs Binding - - 3 ⤷ [3] NCGC607 Hs Binding - - 1 ⤷ [1]

Immuno Process Associations

Immuno Process:  Inflammation GO Annotations:  Associated to 2 GO processes GO:0050728 negative regulation of inflammatory response IC click arrow to show/hide IEA associations GO:0072676 lymphocyte migration IEA

Immuno Process:  Immune regulation GO Annotations:  Associated to 1 GO processes GO:0050728 negative regulation of inflammatory response IC

Immuno Process:  Cytokine production & signalling GO Annotations:  Associated to 2 GO processes GO:0032715 negative regulation of interleukin-6 production IDA GO:0071356 cellular response to tumor necrosis factor IMP

Immuno Process:  Antigen presentation GO Annotations:  Associated to 1 GO processes, IEA only click arrow to show/hide IEA associations GO:0019882 antigen processing and presentation IEA

Immuno Process:  Cellular signalling GO Annotations:  Associated to 1 GO processes, IEA only click arrow to show/hide IEA associations GO:0033077 T cell differentiation in thymus IEA

Immuno Process:  Chemotaxis & migration GO Annotations:  Associated to 1 GO processes, IEA only click arrow to show/hide IEA associations GO:0072676 lymphocyte migration IEA

Immuno Process:  Immune system development GO Annotations:  Associated to 1 GO processes, IEA only click arrow to show/hide IEA associations GO:0033077 T cell differentiation in thymus IEA

Immuno Process:  T cell (activation) GO Annotations:  Associated to 1 GO processes, IEA only click arrow to show/hide IEA associations GO:0033077 T cell differentiation in thymus IEA

Gene Expression and Pathophysiology Comments

Uniprot and OMIM provide detailed information on the GBA mutations that are associated with pathophysiological conditions including Gaucher's disease and Parkinson's disease.

General Comments

Ambroxol (PubChem CID 2132) is reported to rescue defective glucocerebrosidase activity in GBA-mutant Parkinson's disease cells [2]. Ambroxol acts as a molecular chaperone, and is predicted to offer disease modifying activity in GBA-mutant Parkinson's disease [4]. Targeting the GBA-alpha-synuclein (SNCA) pathway is also viewed as a novel mechanism that offers neuroprotective potential in Parkinson's disease [5].