Homo sapiens Gene: GUSB
Summary
InnateDB Gene IDBG-18414.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GUSB
Gene Name glucuronidase, beta
Synonyms BG; MPS7
Species Homo sapiens
Ensembl Gene ENSG00000169919
Encoded Proteins
glucuronidase, beta
glucuronidase, beta
glucuronidase, beta
glucuronidase, beta
glucuronidase, beta
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, Nov 2009]
This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:65960684-65982314
Strand Reverse strand
Band q11.21
Transcripts
ENST00000304895 ENSP00000302728
ENST00000430730 ENSP00000411859
ENST00000447929 ENSP00000411262
ENST00000421103 ENSP00000391390
ENST00000446111 ENSP00000416793
ENST00000466883
ENST00000461622
ENST00000462371
ENST00000465785
ENST00000479038
ENST00000489482
ENST00000475316
ENST00000476486
ENST00000478118
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Hyaluronan uptake and degradation pathway
HS-GAG degradation pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
Hyaluronan metabolism pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
Pentose and glucuronate interconversions pathway
Starch and sucrose metabolism pathway
Glycosaminoglycan degradation pathway
Porphyrin and chlorophyll metabolism pathway
Drug metabolism pathway
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.255230
RefSeq NM_000181 NM_001284290 NM_001293104 NM_001293105
HUGO
OMIM
CCDS CCDS5530 CCDS64665
HPRD 02018
IMGT
EMBL
GenPept
RNA Seq Atlas