• Gene id: 2990

Gene Summary

• Gene Symbol: GUSB   Gene   UCSC   Ensembl
• Aliases: BG, MPS7
• Gene name: glucuronidase beta
• Alternate names: beta-glucuronidase, beta-D-glucuronidase, beta-G1,
• Gene location: 7q11.21 (19533853: 19579033)     Exons: 17     NC_000017.11
• Gene summary(Entrez): 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 mucopolysaccharid
• OMIM: 611499

Protein Summary

• Protein general information: P08236  
  • Name: Beta glucuronidase (EC 3.2.1.31) (Beta G1)
  • Length: 651  
  • Mass: 74732
• Sequence:

  MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFEEQWYRRPLWESGPTV
  DMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVVLRIGSAHSYAIVWVNGVDTLEHEGGYLPFE
  ADISNLVQVGPLPSRLRITIAINNTLTPTTLPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPT
  TYIDDITVTTSVEQDSGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYL
  YSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRW
  LGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVMWSVAN
  EPASHLESAGYYLKMVIAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQF
  ENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTR
  VLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT

• Structural information:
  • Interpro: IPR036156  IPR008979  IPR006101  IPR023232  IPR006103   IPR023230  IPR006102  IPR006104  IPR017853  IPR013783  
  • Prosite: PS00719 PS00608
  • PDB: 1BHG 3HN3
  • PDBsum: 1BHG 3HN3
  • DIP: 29724
  • STRING: ENSP00000302728
• Other Databases: GeneCards:  GUSB  Malacards:  GUSB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004566	beta-glucuronidase activity	IBA	molecular function
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0030246	carbohydrate binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0019391	glucuronoside catabolic process	IBA	biological process
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0004553	hydrolase activity, hydrolyzing O-glycosyl compounds	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016798	hydrolase activity, acting on glycosyl bonds	IEA	molecular function
GO:0004566	beta-glucuronidase activity	TAS	molecular function
GO:0005975	carbohydrate metabolic process	TAS	biological process
GO:0006027	glycosaminoglycan catabolic process	TAS	biological process
GO:0004566	beta-glucuronidase activity	IEA	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0006027	glycosaminoglycan catabolic process	TAS	biological process
GO:0030214	hyaluronan catabolic process	TAS	biological process
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0019391	glucuronoside catabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0004566	beta-glucuronidase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04142	Lysosome
hsa00983	Drug metabolism - other enzymes
hsa00860	Porphyrin and chlorophyll metabolism
hsa00040	Pentose and glucuronate interconversions
hsa00531	Glycosaminoglycan degradation

Diseases

Associated diseases	References
Mucopolysaccharidosis	KEGG:H00421
Mucopolysaccharidosis type VII	KEGG:H00132
Mucopolysaccharidosis	KEGG:H00421
Mucopolysaccharidosis type VII	KEGG:H00132
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881