Glucuronidase Beta (GUSb)

GUS-B; MPS7; Beta-G1

SPN	V418
HGNC	4696
MGI	95872
PubMed	6146321
RGD	2772
UniProt	P08236
Wiki	GUSB

Beta-glucuronidase is an enzyme that in humans is encoded by the GUSB gene.Human beta-glucuronidase is synthesized as an 80 kDa monomer (653 amino acids) before proteolysis removes 18 amino acids from the C-terminal end to form a 78 kDa monomer.  Biologically, beta-glucuronidase exists as a 332 kDa homotetramer.  Beta-glucuronidase contains several notable structural formations, including a type of beta barrel known as a jelly roll barrel and a TIM barrel.

Human beta-glucuronidase is homologous to the Escherichia coli enzyme beta-galactosidase.  This homologous relationship, along with the knowledge that glycosidases often perform hydrolysis catalyzed by two acidic residues, enabled the development of a mechanistic hypothesis.

Reference

"Cloning, sequencing, and expression of cDNA for human beta-glucuronidase."
Proc. Natl. Acad. Sci. U.S.A. 84:685-689(1987) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of human chromosome 7."
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]

"Human chromosome 7: DNA sequence and biology."
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Analysis of the 5' flanking region of the human beta-glucuronidase gene."
Genomics 10:1009-1018(1991) [PubMed] [Europe PMC] [Abstract]

"Characterization of the subunits and sugar moiety of human placental and leukemic beta-glucuronidase."
Biol. Chem. Hoppe-Seyler 373:57-62(1992) [PubMed] [Europe PMC] [Abstract]

"Isolation and expression in Escherichia coli of a cDNA clone encoding human beta-glucuronidase."
Gene 34:105-110(1985) [PubMed] [Europe PMC] [Abstract]

"A novel inhibitor of beta-glucuronidase: L-aspartic acid."
Pediatr. Res. 50:460-466(2001) [PubMed] [Europe PMC] [Abstract]

"Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry."
Nat. Biotechnol. 21:660-666(2003) [PubMed] [Europe PMC] [Abstract]

"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Structure of human beta-glucuronidase reveals candidate lysosomal targeting and active-site motifs."
Nat. Struct. Biol. 3:375-381(1996) [PubMed] [Europe PMC] [Abstract]

"Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome)."
Hum. Mutat. 30:511-519(2009) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes."
Hum. Mutat. 2:443-445(1993) [PubMed] [Europe PMC] [Abstract]

"Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII."
Hum. Mutat. 2:446-457(1993) [PubMed] [Europe PMC] [Abstract]

"Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity."
Am. J. Hum. Genet. 48:89-96(1991) [PubMed] [Europe PMC] [Abstract]

"Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes."
Am. J. Hum. Genet. 52:517-526(1993) [PubMed] [Europe PMC] [Abstract]

"Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings."
J. Biol. Chem. 269:23681-23688(1994) [PubMed] [Europe PMC] [Abstract]

"A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene."
Am. J. Hum. Genet. 57:798-804(1995) [PubMed] [Europe PMC] [Abstract]

"Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site."
Hum. Mol. Genet. 4:651-655(1995) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII."
Am. J. Hum. Genet. 58:457-471(1996) [PubMed] [Europe PMC] [Abstract]

"beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients."
Hum. Genet. 98:281-284(1996) [PubMed] [Europe PMC] [Abstract]

"Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region."
Hum. Genet. 99:462-468(1997) [PubMed] [Europe PMC] [Abstract]

"Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote."
Hum. Genet. 102:69-78(1998) [PubMed] [Europe PMC] [Abstract]

"Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family."
Clin. Genet. 64:172-175(2003) [PubMed] [Europe PMC] [Abstract]

"Mutational analysis in longest known survivor of mucopolysaccharidosis type VII."
Hum. Genet. 112:190-194(2003) [PubMed] [Europe PMC] [Abstract]