GUSB glucuronidase, beta [Homo sapiens (human)] - Gene

Summary

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Official Symbol: GUSBprovided by HGNC
Official Full Name: glucuronidase, betaprovided by HGNC
Primary source: HGNC:4696
Locus tag: tcag7.927
See related: Ensembl:ENSG00000169919; HPRD:02018; MIM:611499; Vega:OTTHUMG00000023735
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BG; MPS7
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]

Genomic context

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Location :: 7q21.11

Sequence :: Chromosome: 7; NC_000007.13 (65425671..65447301, complement)

See GUSB in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

GUSB and ATP2B4 have been validated as a reliable gene combination for Cystic Fibrosis Transmembrane Conductance Regulator gene qPCR data normalization.
Title: GUSB and ATP2B4 are suitable reference genes for CFTR gene expression data normalization in nasal epithelium cells.
Liver disease affects the expression of common HKGs; beta-glucuronidase and splicing factor arginine/serine-rich 4 are the most stable HKGs for studies of gene expression in HCV-infected human liver.
Title: Expression of common housekeeping genes is affected by disease in human hepatitis C virus-infected liver.
Study summarized information on the 49 unique, disease-causing mutations determined so far in the GUS gene.
Title: Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
The genes GUS and PMM1 are recommended for normalization purposes in gene expression studies of liver tissue from patients with chronic hepatitis.
Title: GUS and PMM1 as suitable reference genes for gene expression analysis in the liver tissue of patients with chronic hepatitis.
Observational study of gene-disease association. (HuGE Navigator)
Title: Identification and functional analysis of genetic variants of the human beta-glucuronidase in a German population sample.
beta glucuronidase present in the synovial fluid of rheumatoid arthritis patients, may contribute to the depletion of glycosaminoglycans from cartilage allowing invasion of synovial cells.
Title: Synovial fluid exoglycosidases are predictors of rheumatoid arthritis and are effective in cartilage glycosaminoglycan depletion.
These results indicate that beta-glucuronidase transport into brain parenchyma in early postnatal life is mediated by the mannose 6-phosphate/insulin-like growth factor II receptor.
Title: Developmentally regulated mannose 6-phosphate receptor-mediated transport of a lysosomal enzyme across the blood-brain barrier.
Over-expression of beta-glucuronidase was related to the degree of cancer differentiation, but not to lymph node metastasis.
Title: Clinical significance of TGF- beta1 and beta-glucuronidase synchronous detection in human pancreatic cancer.
beta-glucuronidase mutations are associated with mucopolysaccharidosis type VII
Title: Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.
Recombinant adeno-associated virus encoding human GUSB injected into the vitreous humor of young adult MPS VII mice increased GUSB activity and reduced lysosomal distension in regions of the thalamus and tectum
Title: Intravitreal gene therapy reduces lysosomal storage in specific areas of the CNS in mucopolysaccharidosis VII mice.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Mucopolysaccharidosis type VII

MIM: 253220

Genetic Testing Registry

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_000172.1			BIND	PubMed	Beta-Glucuronidase hydrolyses 5-hydroxyrofecoxib O-glucuronide.
P08236	P23141	CES1	HPRD	PubMed
P08236	P08236	GUSB	HPRD	PubMed
P08236	P17612	PRKACA	HPRD	PubMed
BioGRID:109245	BioGRID:107494	CES1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109245	BioGRID:117654	FBXO6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109245	BioGRID:115154	GIT2	BioGRID	PubMed	Two-hybrid
BioGRID:109245	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Ascorbate biosynthesis, animals, glucose-1P => ascorbate, organism-specific biosystem (from KEGG)
Ascorbate biosynthesis, animals, glucose-1P => ascorbate, organism-specific biosystemPathway module; Nucleotide and amino acid metabolism; Cofactor and vitamin biosynthesis
Ascorbate biosynthesis, animals, glucose-1P => ascorbate, conserved biosystem (from KEGG)
Ascorbate biosynthesis, animals, glucose-1P => ascorbate, conserved biosystemPathway module; Nucleotide and amino acid metabolism; Cofactor and vitamin biosynthesis
Chondroitin sulfate degradation, organism-specific biosystem (from KEGG)
Chondroitin sulfate degradation, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
Chondroitin sulfate degradation, conserved biosystem (from KEGG)
Chondroitin sulfate degradation, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
Dermatan sulfate degradation, organism-specific biosystem (from KEGG)
Dermatan sulfate degradation, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
Dermatan sulfate degradation, conserved biosystem (from KEGG)
Dermatan sulfate degradation, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
Disease, organism-specific biosystem (from REACTOME)
Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
Drug metabolism - other enzymes, organism-specific biosystem (from KEGG)
Drug metabolism - other enzymes, organism-specific biosystem
Drug metabolism - other enzymes
Drug metabolism - other enzymes, conserved biosystem (from KEGG)
Drug metabolism - other enzymes, conserved biosystem
Drug metabolism - other enzymes
Glycosaminoglycan degradation, organism-specific biosystem (from KEGG)
Glycosaminoglycan degradation, organism-specific biosystem
Glycosaminoglycan degradation
Glycosaminoglycan degradation, conserved biosystem (from KEGG)
Glycosaminoglycan degradation, conserved biosystem
Glycosaminoglycan degradation
Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
HS-GAG degradation, organism-specific biosystem (from REACTOME)
HS-GAG degradation, organism-specific biosystemLysosomal degradation of glycoproteins is part of the cellular homeostasis of glycosylation (Winchester 2005). The steps outlined below describe the degradation of heparan sulfate/heparin. Complete d...
Heparan sulfate degradation, organism-specific biosystem (from KEGG)
Heparan sulfate degradation, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
Heparan sulfate degradation, conserved biosystem (from KEGG)
Heparan sulfate degradation, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystem (from REACTOME)
Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystemThe acronym HS-GAG is used to describe both heparin and heparan sulfate. HS-GAG is a member of the glycosaminoglycan family and consists of a variably sulfated repeating disaccharide unit, the most ...
Hyaluronan metabolism, organism-specific biosystem (from REACTOME)
Hyaluronan metabolism, organism-specific biosystemHyaluronan (hyaluronic acid, hyaluronate or HA) is an anionic glycosaminoglycan (GAG) distributed widely throughout connective, epithelial, and neural tissues and most abundant in the extracellular m...
Hyaluronan uptake and degradation, organism-specific biosystem (from REACTOME)
Hyaluronan uptake and degradation, organism-specific biosystemHyaluronan (HA) turnover can occur locally at the tissue of origin, where it is taken up by cells to be degraded, or released into the lymphatic and vascular systems, where it can be eliminated by th...
Lysosome, organism-specific biosystem (from KEGG)
Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
Lysosome, conserved biosystem (from KEGG)
Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
MPS I - Hurler syndrome, organism-specific biosystem (from REACTOME)
MPS I - Hurler syndrome, organism-specific biosystemMucopolysaccharidosis type I (MPS I, Hurler syndrome, Hurler's disease, gargoylism, Scheie, Hirler-Scheie syndrome; MIM:607014, 607015 and 607016) is an autosomal recessive genetic disorder where th...
MPS II - Hunter syndrome, organism-specific biosystem (from REACTOME)
MPS II - Hunter syndrome, organism-specific biosystemMucopolysaccharidosis II (MPS II, Hunter syndrome, MIM:309900) is an X-linked, recessive genetic disorder which therefore primarily affects males. MPS II was first described in 1917, by Major Charles...
MPS IIIA - Sanfilippo syndrome A, organism-specific biosystem (from REACTOME)
MPS IIIA - Sanfilippo syndrome A, organism-specific biosystemMucopolysaccharidosis III (MPS III, Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis IIIA (M...
MPS IIIB - Sanfilippo syndrome B, organism-specific biosystem (from REACTOME)
MPS IIIB - Sanfilippo syndrome B, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). MPS IIIB (Mucopolysaccharidosis type II...
MPS IIIC - Sanfilippo syndrome C, organism-specific biosystem (from REACTOME)
MPS IIIC - Sanfilippo syndrome C, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). Mucopolysaccharidosis type IIIC (MPS II...
MPS IIID - Sanfilippo syndrome D, organism-specific biosystem (from REACTOME)
MPS IIID - Sanfilippo syndrome D, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis type IIID (MPS I...
MPS IV - Morquio syndrome A, organism-specific biosystem (from REACTOME)
MPS IV - Morquio syndrome A, organism-specific biosystemMucopolysaccharidosis IV A (MPS IVA, MPS4A, Morquio's syndrome, Morquio's; MIM:253000) is a rare, autosomal recessive mucopolysaccharide storage disease, first described simultaneously in 1929 by L M...
MPS IV - Morquio syndrome B, organism-specific biosystem (from REACTOME)
MPS IV - Morquio syndrome B, organism-specific biosystemDefects in beta-galactosidase (GLB1; MIM:611458) can result in GM1 gangliosidosis (GM1; MIM:230500) (Nishimoto et al. 1991) (not described here), with several phenotypes indicating mental deteriorati...
MPS IX - Natowicz syndrome, organism-specific biosystem (from REACTOME)
MPS IX - Natowicz syndrome, organism-specific biosystemMucopolysaccharidosis type IX (MPS IX, Natowicz syndrome, Hyaluronidase deficiency, MIM:601492) is a rare lysosomal storage disease characterized by high hyaluronan (HA) concentration in the serum re...
MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystem (from REACTOME)
MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystemMucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, polydystrophic dwarfism; MIM:253200) is an autosomal recessive lysosomal storage disorder caused by a deficiency in arylsulfatase B (AR...
MPS VII - Sly syndrome, organism-specific biosystem (from REACTOME)
MPS VII - Sly syndrome, organism-specific biosystemMucopolysaccharidosis type VII (MPS VII, Sly syndrome, beta-glucuronidase deficiency; MIM:253220) is an autosomal recessive lysosomal storage disease characterized by a deficiency of the enzyme beta-...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
Mucopolysaccharidoses, organism-specific biosystem (from REACTOME)
Mucopolysaccharidoses, organism-specific biosystemThe mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders caused by deficiencies of enzymes catalyzing the stepwise degradation of glycosaminoglycans (GAGs, originall...
Pentose and glucuronate interconversions, organism-specific biosystem (from KEGG)
Pentose and glucuronate interconversions, organism-specific biosystem
Pentose and glucuronate interconversions
Pentose and glucuronate interconversions, conserved biosystem (from KEGG)
Pentose and glucuronate interconversions, conserved biosystem
Pentose and glucuronate interconversions
Porphyrin and chlorophyll metabolism, organism-specific biosystem (from KEGG)
Porphyrin and chlorophyll metabolism, organism-specific biosystem
Porphyrin and chlorophyll metabolism
Porphyrin and chlorophyll metabolism, conserved biosystem (from KEGG)
Porphyrin and chlorophyll metabolism, conserved biosystem
Porphyrin and chlorophyll metabolism
Starch and sucrose metabolism, organism-specific biosystem (from KEGG)
Starch and sucrose metabolism, organism-specific biosystem
Starch and sucrose metabolism
Starch and sucrose metabolism, conserved biosystem (from KEGG)
Starch and sucrose metabolism, conserved biosystem
Starch and sucrose metabolism

General gene information

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Markers

RH40675 (e-PCR)
- UniSTS:90907

RH40687 (e-PCR)
- UniSTS:87074

D7S2793 (e-PCR)
- UniSTS:33620

GUSB (e-PCR), detects polymorphism
- UniSTS:39764

D5S578 (e-PCR)
- UniSTS:26214

Genotypes

See GUSB SNP Geneview Report
See GUSB SNP Genotype Report
See GUSB SNP Variation Viewer Report

Homology

Homologs of the GUSB gene: The GUSB gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and C.elegans.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
beta-glucuronidase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
carbohydrate metabolic process	TAS Traceable Author Statement more info
glycosaminoglycan catabolic process	TAS Traceable Author Statement more info
glycosaminoglycan metabolic process	TAS Traceable Author Statement more info
hyaluronan catabolic process	TAS Traceable Author Statement more info
hyaluronan metabolic process	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
lysosomal lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: beta-glucuronidase

Names: beta-glucuronidase; beta-G1; beta-D-glucuronidase

NP_000172.2

EC 3.2.1.31

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016197.1 RefSeqGene

Range

5001..26631

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000181.3 → NP_000172.2 beta-glucuronidase precursor

Status: REVIEWED

Source sequence(s)

BC014142, BM719712, DC346632

Consensus CDS

CCDS5530.1

UniProtKB/Swiss-Prot

P08236

Related

ENSP00000302728, OTTHUMP00000159848, ENST00000304895, OTTHUMT00000251637

Conserved Domains (3) summary

PRK10150
Location:27 – 631
Blast Score: 1730

PRK10150; beta-D-glucuronidase; Provisional

pfam02836
Location:329 – 631
Blast Score: 1019

Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain

pfam02837
Location:35 – 220
Blast Score: 270

Glyco_hydro_2_N; Glycosyl hydrolases family 2, sugar binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p10 Primary Assembly

Range

65425671..65447301, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

61613080..61634635, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

64763190..64784820, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018918.1 Alternate CHM1_1.0

Range

68906672..68928278, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01049009.1 (35056..38529)	None
genomic	ABBA01049010.1	None
genomic	ABBA01049011.1	None
genomic	AC073261.8	AAQ96851.1
genomic	AMYH01017483.1 (86883..108489)	None
genomic	CH236961.1	EAL23740.1
genomic	CH471140.1	EAX07949.1
		EAX07950.1
		EAX07951.1
genomic	M65002.1	AAA52622.1
genomic	S72462.1	AAD14101.1
mRNA	AK096764.1	None
mRNA	AK223406.1	BAD97126.1
mRNA	AK300223.1	BAG61991.1
mRNA	AK303819.1	BAG64768.1
mRNA	AK311273.1	None
mRNA	AK312752.1	BAG35619.1
mRNA	BC014142.2	AAH14142.1
mRNA	BM719712.1	None
mRNA	BP284405.1	None
mRNA	DC346632.1	None
mRNA	M10618.1	AAA52621.1
mRNA	M15182.1	AAA52561.1
other-genetic	DQ892941.2	ABM83867.1
other-genetic	DQ896190.2	ABM87189.1