ID:BGLR_HUMAN DESCRIPTION: RecName: Full=Beta-glucuronidase; EC=3.2.1.31; AltName: Full=Beta-G1; Flags: Precursor; FUNCTION: Plays an important role in the degradation of dermatan and keratan sulfates. CATALYTIC ACTIVITY: A beta-D-glucuronoside + H(2)O = D-glucuronate + an alcohol. ENZYME REGULATION: Inhibited by L-aspartic acid. SUBUNIT: Homotetramer. SUBCELLULAR LOCATION: Lysosome. PTM: N-linked glycosylated with 3 to 4 oligosaccharide chains. DISEASE: Defects in GUSB are the cause of mucopolysaccharidosis type 7 (MPS7) [MIM:253220]; also known as Sly syndrome. MPS7 is an autosomal recessive lysosomal storage disease characterized by inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment. DISEASE: Note=Mucopolysaccharidosis type 7 is associated with non- immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. SIMILARITY: Belongs to the glycosyl hydrolase 2 family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GUSB";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P08236
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004566 beta-glucuronidase activity GO:0005102 receptor binding GO:0016787 hydrolase activity GO:0016798 hydrolase activity, acting on glycosyl bonds GO:0019904 protein domain specific binding
Biological Process: GO:0005975 carbohydrate metabolic process GO:0006027 glycosaminoglycan catabolic process GO:0008152 metabolic process GO:0030214 hyaluronan catabolic process GO:0043312 neutrophil degranulation
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
