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

Summary

Official Symbol: GUSBprovided by HGNC
Official Full Name: glucuronidase betaprovided by HGNC
Primary source: HGNC:HGNC:4696
See related: Ensembl:ENSG00000169919 MIM:611499; AllianceGenome:HGNC:4696
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. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]
Expression: Ubiquitous expression in bone marrow (RPKM 37.4), placenta (RPKM 30.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q11.21

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (65960684..65982213, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (67182808..67204306, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (65425671..65447200, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Macrophages and derived-TNF-alpha promote lipopolysaccharide-induced upregulation of endogenous beta-glucuronidase in the epithelial cells of the bile duct: A possible facilitator of hepatolithiasis formation.
Title: Macrophages and derived-TNF-α promote lipopolysaccharide-induced upregulation of endogenous β-glucuronidase in the epithelial cells of the bile duct: A possible facilitator of hepatolithiasis formation.
Over-Expression of GUSB Leads to Primary Resistance of Anti-PD1 Therapy in Hepatocellular Carcinoma.
Title: Over-Expression of GUSB Leads to Primary Resistance of Anti-PD1 Therapy in Hepatocellular Carcinoma.
the beta-d-galactosidase, beta-d-glucuronidase and alpha-l-fucosidase activities in serums from hemolyzed blood, were determined.
Title: Optimization of the method for α-l-fucosidase, β-d-galactosidase and β-d-glucuronidase determination in serum from hemolyzed blood.
Results show that GUS mRNA changes in blood are significantly correlated with gait step length variability in premutation (PM) females patients with fragile X tremor ataxia syndrome .
Title: β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles.
We produced GUS from a CHO cell line grown in suspension in a 15 L perfused bioreactor and developed a three step purification procedure that yields approximately 99% pure enzyme with a recovery of more than 40%.
Title: An improved purification method for the lysosomal storage disease protein β-glucuronidase produced in CHO cells.
Selective and amplified bG expression together with the prodrug DOXGA3 had an increased antitumor effect, showing great potential for prostate cancer therapy.
Title: Selective and augmented β-glucuronidase expression combined with DOX-GA3 application elicits the potent suppression of prostate cancer.
the use of in silico approaches provided a useful understanding of the effect of single point mutations on the structure-function relationship of GUSBp
Title: Large scale analysis of the mutational landscape in β-glucuronidase: A major player of mucopolysaccharidosis type VII.
the efficacy of a helper-dependent (HD) canine adenovirus (CAV-2) vector harboring a human GUSB expression cassette (HD-RIGIE) in the MPS VII dog brain was tested
Title: Corrective GUSB transfer to the canine mucopolysaccharidosis VII brain.
This assessment demonstrated that although butyrate dramatically increased beta-glucuronidase production in bioreactors, it adversely impacted the mannose-6-phosphorylation of this lysosomal storage diseasestherapeutic enzyme
Title: Evaluation of butyrate-induced production of a mannose-6-phosphorylated therapeutic enzyme using parallel bioreactors.
expression of CES2, UGTA1A1, and GUSB varies in colorectal pathology tissues and that the expression of CES2 is somewhat related to tumor staging.
Title: Relationship between the expression of CES2, UGT1A1, and GUSB in colorectal cancer tissues and aberrant methylation.

Submit: New GeneRIF Correction See all GeneRIFs (20)

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

Associated conditions

Description	Tests
Mucopolysaccharidosis type 7 MedGen: C0085132 OMIM: 253220 GeneReviews: Mucopolysaccharidosis Type VII	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-glucuronidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables beta-glucuronidase activity	TAS Traceable Author Statement more info
enables carbohydrate binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in chondroitin sulfate catabolic process	IEA Inferred from Electronic Annotation more info
involved_in glycosaminoglycan catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in heparan sulfate proteoglycan catabolic process	IEA Inferred from Electronic Annotation more info
involved_in hyaluronan catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal lumen	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: beta-glucuronidase

Names: beta-D-glucuronidase; beta-G1

NP_000172.2

EC 3.2.1.31

NP_001271219.1

EC 3.2.1.31

NP_001280033.1

EC 3.2.1.31

NP_001280034.1

EC 3.2.1.31

XP_005250354.1

EC 3.2.1.31

XP_016867580.1

EC 3.2.1.31

XP_047276242.1

EC 3.2.1.31

XP_047276243.1

EC 3.2.1.31

XP_047276244.1

EC 3.2.1.31

XP_047276245.1

EC 3.2.1.31

XP_047276246.1

EC 3.2.1.31

XP_054214006.1

EC 3.2.1.31

XP_054214007.1

EC 3.2.1.31

XP_054214008.1

EC 3.2.1.31

XP_054214009.1

EC 3.2.1.31

XP_054214010.1

EC 3.2.1.31

XP_054214011.1

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

5102..26631

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000181.4 → NP_000172.2 beta-glucuronidase isoform 1 precursor

See identical proteins and their annotated locations for NP_000172.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BC014142, BM719712, DC346632

Consensus CDS

CCDS5530.1

UniProtKB/Swiss-Prot

B4E1F6, E9PCV0, P08236, Q549U0, Q96CL9

UniProtKB/TrEMBL

B2R6X2

Related

ENSP00000302728.4, ENST00000304895.9

Conserved Domains (1) summary

cl27651
Location:27 → 631

Glyco_hydro_2; Glycosyl hydrolases family 2
NM_001284290.2 → NP_001271219.1 beta-glucuronidase isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AA947121, AC073261, AK303819, DC346632

Consensus CDS

CCDS64665.1

UniProtKB/Swiss-Prot

P08236

Related

ENSP00000391390.1, ENST00000421103.5

Conserved Domains (3) summary

PRK10150
Location:27 → 485

PRK10150; beta-D-glucuronidase; Provisional

pfam02836
Location:183 → 485

Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain

pfam02837
Location:36 → 158

Glyco_hydro_2_N; Glycosyl hydrolases family 2, sugar binding domain
NM_001293104.2 → NP_001280033.1 beta-glucuronidase isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region, compared to variant 1. The encoded protein (isoform 3) is shorter, compared to isoform 1.

Source sequence(s)

AA947121, BC014142, CD014092, DC346632

UniProtKB/Swiss-Prot

P08236

Conserved Domains (2) summary

pfam00703
Location:36 → 137

Glyco_hydro_2; Glycosyl hydrolases family 2

pfam02836
Location:139 → 441

Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain
NM_001293105.2 → NP_001280034.1 beta-glucuronidase isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks alternate exons in the 5' coding region, compared to variant 1. The encoded protein (isoform 4) is shorter, compared to isoform 1.

Source sequence(s)

AA947121, BC014142, CD014093, DC346632

UniProtKB/TrEMBL

B4DTH9

Conserved Domains (1) summary

pfam02836
Location:110 → 412

Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain

RNA

NR_120531.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA947121, BC014142, CD014094, DC346632

Related

ENST00000447929.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

65960684..65982213 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005250297.5 → XP_005250354.1 beta-glucuronidase isoform X1

UniProtKB/TrEMBL

B2R6X2

Conserved Domains (4) summary

PRK10150
Location:27 → 580

PRK10150; beta-D-glucuronidase; Provisional

pfam00703
Location:226 → 306

Glyco_hydro_2; Glycosyl hydrolases family 2

pfam02837
Location:36 → 224

Glyco_hydro_2_N; Glycosyl hydrolases family 2, sugar binding domain

cl23725
Location:305 → 580

Glyco_hydro_1; Glycosyl hydrolase family 1
XM_047420289.1 → XP_047276245.1 beta-glucuronidase isoform X6
XM_047420286.1 → XP_047276242.1 beta-glucuronidase isoform X2
XM_047420288.1 → XP_047276244.1 beta-glucuronidase isoform X5
XM_017012091.2 → XP_016867580.1 beta-glucuronidase isoform X3
XM_047420290.1 → XP_047276246.1 beta-glucuronidase isoform X7
XM_047420287.1 → XP_047276243.1 beta-glucuronidase isoform X4