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Protein-coding gene in the: species Homo sapiens
GBA3
Available structures
PDBHuman UniProt search: PDBe RCSB
List of PDB id codes

2E9L, 2E9M, 2JFE, 2ZOX, 3VKK

Identifiers
AliasesGBA3, CBG, "CBGL1," GLUC, "KLRP," glucosylceramidase beta 3 (gene/pseudogene)
External IDsOMIM: 606619; GeneCards: GBA3; OMA:GBA3 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)
Chromosome 4 (human)
Genomic location for GBA3
Genomic location for GBA3
Band4p15.2Start22,692,914 bp
End22,819,575 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • jejunal mucosa

  • mucosa of ileum

  • duodenum

  • human kidney

  • liver

  • right lobe of liver

  • renal medulla

  • kidney tubule

  • buccal mucosa cell

  • testicle
    n/a
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

57733

n/a

Ensembl

ENSG00000249948

n/a

UniProt

Q9H227

n/a

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 searchn/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.

Function※

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. 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.

See also※

References※

  1. ^ 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. ^ 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※

External links※

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


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