Literature summary for 3.2.1.45 extracted from

Woeste, M.A.; Stern, S.; Raju, D.N.; Grahn, E.; Dittmann, D.; Gutbrod, K.; Doermann, P.; Hansen, J.N.; Schonauer, S.; Marx, C.E.; Hamzeh, H.; Koerschen, H.G.; Aerts, J.M.F.G.; Boenigk, W.; Endepols, H.; Sandhoff, R.; Geyer, M.; Berger, T.K.; Bradke, F.; Wachten, D.
Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations (2019), J. Biol. Chem., 294, 3853-3871 .

Cloned(Commentary)

Cloned (Comment)	Organism
expressed in CHO cells	Mus musculus

Protein Variants	Comment	Organism
D585H	the mutation causes 99% decrease of activity and is associated with autosomal-recessive cerebellar ataxia	Mus musculus
F410V	the mutation causes 98% decrease of activity and is associated with hereditary spastic paraplegia	Mus musculus
G674R	the mutation causes 99% decrease of activity and is associated with hereditary spastic paraplegia	Mus musculus
M501V	the mutation is associated with Marinesco-Sjoegren-like syndrome	Mus musculus
R621W	the mutation causes 99% decrease of activity and is associated with hereditary spastic paraplegia	Mus musculus
R725H	the mutation causes 70% decrease of activity is associated with autosomal-recessive cerebellar ataxia	Mus musculus
R864H	the mutation causes 99% decrease of activity and is associated with autosomal-recessive cerebellar ataxia	Mus musculus

Inhibitors	Comment	Organism	Structure
N-(5-adamantane-1-yl-methoxypentyl)-deoxynojirimycin	-	Mus musculus
N-butyldeoxynojirimycin	-	Mus musculus

Localization	Comment	Organism	GeneOntology No.	Textmining
endoplasmic reticulum	-	Mus musculus	5783	-
Golgi apparatus	-	Mus musculus	5794	-

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
D-glucosylceramide + H2O	Mus musculus	-	D-glucose + ceramide	-	?

Organism	UniProt	Comment	Textmining
Mus musculus	Q69ZF3	-	-

Purification (Comment)	Organism
anti-FLAG magnetic bead chromatography	Mus musculus

Source Tissue	Comment	Organism	Textmining
Sertoli cell	-	Mus musculus	-
testis	-	Mus musculus	-

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
4-methylumbelliferyl beta-D-glucopyranoside + H2O	-	Mus musculus	4-methylumbelliferone + beta-D-glucopyranose	-	?
D-glucosylceramide + H2O	-	Mus musculus	D-glucose + ceramide	-	?

Subunits	Comment	Organism
?	x * 110000, SDS-PAGE	Mus musculus
?	x * 103000, calculated from amino acid sequence	Mus musculus

Synonyms	Comment	Organism
GBA2	-	Mus musculus
nonlysosomal beta-glucosidase	-	Mus musculus
nonlysosomal glucosylceramidase	-	Mus musculus

General Information	Comment	Organism
malfunction	some enzyme-knockout mice display a strong locomotor defect, others displayed only mild alterations of the gait pattern and no signs of cerebellar defects. Enzyme knockout results in a severe sperm morphological defect called globozoospermia. Loss of GBA2 enzyme activity diminishes neurite outgrowth	Mus musculus