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Literature summary 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 .
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
3.2.1.45 expressed in CHO cells Mus musculus

Protein Variants

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

Inhibitors

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

Localization

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

Natural Substrates/ Products (Substrates)

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

Organism

EC Number Organism UniProt Comment Textmining
3.2.1.45 Mus musculus Q69ZF3
-
-

Purification (Commentary)

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

Source Tissue

EC Number Source Tissue Comment Organism Textmining
3.2.1.45 Sertoli cell
-
 Mus musculus
-
3.2.1.45 testis
-
 Mus musculus
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.2.1.45 4-methylumbelliferyl beta-D-glucopyranoside + H2O
-
 Mus musculus 4-methylumbelliferone + beta-D-glucopyranose
-
 ?
3.2.1.45 D-glucosylceramide + H2O
-
 Mus musculus D-glucose + ceramide
-
 ?

Subunits

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

Synonyms

EC Number Synonyms Comment Organism
3.2.1.45 GBA2
-
 Mus musculus
3.2.1.45 nonlysosomal beta-glucosidase
-
 Mus musculus
3.2.1.45 nonlysosomal glucosylceramidase
-
 Mus musculus

General Information

EC Number General Information Comment Organism
3.2.1.45 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