Entity Details

Primary name GBA2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9HCG7
EntryNameGBA2_HUMAN
FullNameNon-lysosomal glucosylceramidase
TaxID9606
Evidenceevidence at protein level
Length927
SequenceStatuscomplete
DateCreated2007-04-03
DateModified2021-06-02

Ontological Relatives

GenesGBA2

GO terms

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GOName
GO:0004348 glucosylceramidase activity
GO:0005790 smooth endoplasmic reticulum
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005975 carbohydrate metabolic process
GO:0006680 glucosylceramide catabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0007417 central nervous system development
GO:0008203 cholesterol metabolic process
GO:0008206 bile acid metabolic process
GO:0008422 beta-glucosidase activity
GO:0016021 integral component of membrane
GO:0016139 glycoside catabolic process
GO:0019898 extrinsic component of membrane
GO:0021954 central nervous system neuron development
GO:0030259 lipid glycosylation
GO:0030833 regulation of actin filament polymerization
GO:0031113 regulation of microtubule polymerization
GO:0042406 extrinsic component of endoplasmic reticulum membrane
GO:0046527 glucosyltransferase activity
GO:0050295 steryl-beta-glucosidase activity
GO:0090498 extrinsic component of Golgi membrane
GO:0097035 regulation of membrane lipid distribution

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR006775 Glycosyl-hydrolase family 116, catalytic regionDomainDomain
IPR008928 Six-hairpin glycosidase superfamilyFamilyHomologous superfamily
IPR012341 Six-hairpin glycosidase-like superfamilyFamilyHomologous superfamily
IPR014551 Beta-glucosidase GBA2-typeFamilyFamily
IPR024462 Glycosyl-hydrolase family 116, N-terminalDomainDomain

Diseases

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Disease IDSourceNameDescription
614409 OMIMSpastic paraplegia 46, autosomal recessive (SPG46)A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
GBA2_HUMANMTR1A_HUMANBioGRID, IntAct26514267 details
GBA2_HUMANPCNA_HUMANUniProt26030842 details
GBA2_HUMANA4_HUMANBioGRID21832049 details