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GBA3 - Wikipedia

From Wikipedia, the free encyclopedia

GBA3

Available structures

PDB

Human UniProt search: PDBe RCSB

List of PDB id codes
2E9L, 2E9M, 2JFE, 2ZOX, 3VKK

Identifiers

Aliases

GBA3, CBG, CBGL1, GLUC, KLRP, glucosylceramidase beta 3 (gene/pseudogene)

External IDs

OMIM: 606619; GeneCards: GBA3; OMA:GBA3 - orthologs

Gene location (Human)

Chr.	Chromosome 4 (human)^[1]

Band	4p15.2	Start	22,692,914 bp^[1]
Band	4p15.2	End	22,819,575 bp^[1]

RNA expression pattern

Bgee

Human

Mouse (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	beta-galactosidase activity glycosylceramidase activity hydrolase activity, hydrolyzing O-glycosyl compounds beta-glucosidase activity hydrolase activity hydrolase activity, acting on glycosyl bonds scopolin beta-glucosidase activity glucosylceramidase activity protein binding galactosylceramidase activity
Cellular component	cytoplasm cytosol catalytic complex
Biological process	glycosylceramide catabolic process metabolism glycosphingolipid metabolic process glycoside catabolic process protein stabilization cellular oligosaccharide catabolic process positive regulation of exo-alpha-sialidase activity carbohydrate metabolic process glucosylceramide catabolic process galactosylceramide catabolic process beta-glucoside catabolic process
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

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 Mb

n/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

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000249948 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: glucosidase".
^ ^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.
^ 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.

External links

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

Hydrolase: sugar hydrolases (EC 3.2)

3.2.1: Glycoside hydrolases

Disaccharidase	Sucrase/Sucrase-isomaltase/Invertase Maltase Trehalase Lactase
Glucosidases	Cellulase Alpha-glucosidase Acid Neutral AB Neutral C Beta-glucosidase cytosolic Debranching enzyme
Other	Amylase Alpha-amylase Chitinase Lysozyme Neuraminidase NEU1 NEU2 NEU3 NEU4 Bacterial neuraminidase Viral neuraminidase Galactosidases Alpha Beta alpha-Mannosidase Glucuronidase Klotho Hyaluronidase Pullulanase Glucosylceramidase lysosomal non-lysosomal Galactosylceramidase Alpha-N-acetylgalactosaminidase NAGA Alpha-N-acetylglucosaminidase Fucosidase Hexosaminidase HEXA HEXB Iduronidase Maltase-glucoamylase Heparanase HPSE2

3.2.2: Hydrolysing
N-Glycosyl compounds

DNA glycosylases: Oxoguanine glycosylase

v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Diffusion-limited enzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list) EC7 Translocases (list)

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Function

See also

References

Further reading

External links