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GBA3

From Wikipedia, the free encyclopedia
GBA3
Available structures
PDBHuman UniProt search: PDBe RCSB
Identifiers
AliasesGBA3, CBG, CBGL1, GLUC, KLRP, glucosylceramidase beta 3 (gene/pseudogene)
External IDsOMIM: 606619; GeneCards: GBA3; OMA:GBA3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001128432
NM_001277225
NM_020973

n/a

RefSeq (protein)

NP_001121904
NP_001264154
NP_066024

n/a

Location (UCSC)Chr 4: 22.69 – 22.82 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Cytosolic beta-glucosidase, also known as cytosolic beta-glucosidase-like protein 1, is a beta-glucosidase (EC 3.2.1.21) enzyme that in humans is encoded by the GBA3 gene.[3][4]

Function

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Cytosolic beta-glucosidase is a predominantly liver enzyme that efficiently hydrolyzes beta-D-glucoside and beta-D-galactoside, but not any known physiologic beta-glycoside, suggesting that it may be involved in detoxification of plant glycosides.[4] GBA3 also has significant neutral glycosylceramidase activity (EC 3.2.1.62), suggesting that it may be involved in a non-lysosomal catabolic pathway of glucosylceramide metabolism.[5]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000249948Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Entrez Gene: glucosidase".
  4. ^ a b de Graaf M, van Veen IC, van der Meulen-Muileman IH, Gerritsen WR, Pinedo HM, Haisma HJ (June 2001). "Cloning and characterization of human liver cytosolic beta-glycosidase". Biochem. J. 356 (Pt 3): 907–10. doi:10.1042/0264-6021:3560907. PMC 1221920. PMID 11389701.
  5. ^ Hayashi Y, Okino N, Kakuta Y, Shikanai T, Tani M, Narimatsu H, Ito M (October 2007). "Klotho-related protein is a novel cytosolic neutral beta-glycosylceramidase". J. Biol. Chem. 282 (42): 30889–900. doi:10.1074/jbc.M700832200. PMID 17595169.

Further reading

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  • PDBe-KB provides an overview of all the structure information available in the PDB for Human Cytosolic beta-glucosidase