InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GUSB

Summary

InnateDB Protein

IDBP-18416.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GUSB

Protein Name

glucuronidase, beta

Synonyms

BG; MPS7;

Species

Homo sapiens

Ensembl Protein

ENSP00000302728

InnateDB Gene

IDBG-18414 (GUSB)

Protein Structure

UniProt Annotation

Function

Plays an important role in the degradation of dermatan and keratan sulfates.

Subcellular Localization

Lysosome.

Disease Associations

Mucopolysaccharidosis 7 (MPS7) [MIM:253220]: 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. {ECO:0000269PubMed:12522561, ECO:0000269PubMed:12859417, ECO:0000269PubMed:1702266, ECO:0000269PubMed:7573038, ECO:0000269PubMed:7633414, ECO:0000269PubMed:7680524, ECO:0000269PubMed:8089138, ECO:0000269PubMed:8111412, ECO:0000269PubMed:8111413, ECO:0000269PubMed:8644704, ECO:0000269PubMed:8707294, ECO:0000269PubMed:9099834, ECO:0000269PubMed:9490302}. Note=The disease is caused by mutations affecting the gene represented in this entry.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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	7 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds
GO:0004566	beta-glucuronidase activity

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006027	glycosaminoglycan catabolic process
GO:0030203	glycosaminoglycan metabolic process
GO:0030212	hyaluronan metabolic process
GO:0030214	hyaluronan catabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005764	lysosome
GO:0016020	membrane
GO:0043202	lysosomal lumen
GO:0043231	intracellular membrane-bounded organelle
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR006101 Glycoside hydrolase, family 2
IPR006102 Glycoside hydrolase, family 2, immunoglobulin-like beta-sandwich
IPR006103 Glycoside hydrolase, family 2, TIM barrel
IPR006104 Glycosyl hydrolases family 2, sugar binding domain
IPR008979 Galactose-binding domain-like
IPR017853 Glycoside hydrolase, superfamily

PFAM

PF00703
PF02836
PF02837

PRINTS

PR00132

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P08236