Gusb glucuronidase, beta [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gusbprovided by MGI
Official Full Name: glucuronidase, betaprovided by MGI
Primary source: MGI:MGI:95872
See related: Ensembl:ENSMUSG00000025534 AllianceGenome:MGI:95872
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: g; Gur; Gus; Gut; asd; Gus-r; Gus-s; Gus-t; Gus-u
Summary: Enables beta-glucuronidase activity. Acts upstream of or within glucuronoside catabolic process. Located in extracellular space and lysosome. Is expressed in several structures, including alimentary system; brain; heart; sensory organ; and viscerocranium. Used to study Sly syndrome. Human ortholog(s) of this gene implicated in Sly syndrome. Orthologous to human GUSB (glucuronidase beta). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in subcutaneous fat pad adult (RPKM 23.8), genital fat pad adult (RPKM 19.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G1.3; 5 68.32 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (130011278..130031890, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (129989011..130003049, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gut dysbiosis-derived beta-glucuronidase promotes the development of endometriosis.
Title: Gut dysbiosis-derived β-glucuronidase promotes the development of endometriosis.
Administration of murine beta-glucuronidase to MPS VII mice at 4months of age, when bone disease was fully manifested, using lentiviral gene delivery resulted in a doubling of osteoclast numbers and a significant increase in attachment capacity (68% versus 29.4% in untreated MPS VII animals). Bone mineral volume rapidly decreased by 39% after gene therapy and fell within the normal range by 6months of age
Title: Reversal of established bone pathology in MPS VII mice following lentiviral-mediated gene therapy.
beta-Glucuronidase, a Regulator of Lyme Arthritis Severity, Modulates Lysosomal Trafficking and MMP-9 Secretion in Response to Inflammatory Stimuli
Title: β-Glucuronidase, a Regulator of Lyme Arthritis Severity, Modulates Lysosomal Trafficking and MMP-9 Secretion in Response to Inflammatory Stimuli.
GUSB modulates arthritis pathogenesis by preventing accumulation of proinflammatory glycosaminoglycans within inflamed joint tissue.
Title: Lysosomal β-glucuronidase regulates Lyme and rheumatoid arthritis severity.
The Gus plays a role in liver retinoid metabolism.
Title: Esterase 22 and beta-glucuronidase hydrolyze retinoids in mouse liver.
Missense mutations and models of murine mucopolysaccharidosis type VII produced by targeted mutagenesis
Title: Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.
Lysosome storage in the mucopoysaccharidosis type VII brain was corrected by injection of an HSV-1 genetic vector and expression of Gusb was assayed. genetic vector
Title: Widespread correction of lysosomal storage in the mucopolysaccharidosis type VII mouse brain with a herpes simplex virus type 1 vector expressing beta-glucuronidase.
data indicate the expression of beta-glucuronidase coordinated with testosterone level in male CBA mice but not C57BL/6 mice
Title: Coordinated expression of the genes Gus and Mup as a potential basis of the functional activity of the androgen-dependent pheromones of the house mouse (Mus musculus L.).

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (2) 1 citation
Targeted (4) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI747421 (e-PCR)
- UniSTS:179275

PMC151849P1 (e-PCR)
- UniSTS:271186

D5Mit27 (e-PCR), detects polymorphism
- UniSTS:130406

Gus-s (e-PCR), detects polymorphism
- UniSTS:143282

Gus-s (e-PCR), detects polymorphism
- UniSTS:143283

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables beta-glucuronidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables beta-glucuronidase activity	IDA Inferred from Direct Assay more info	PubMed
enables beta-glucuronidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables beta-glucuronidase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables carbohydrate binding	IBA Inferred from Biological aspect of Ancestor more info
enables carbohydrate binding	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables hydrolase activity, acting on glycosyl bonds	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, hydrolyzing O-glycosyl compounds	IEA Inferred from Electronic Annotation more info
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within carbohydrate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in chondroitin sulfate catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucuronoside catabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within glucuronoside catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in heparan sulfate proteoglycan catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hyaluronan catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hyaluronan catabolic process	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation 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 extracellular space	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in lysosomal lumen	IDA Inferred from Direct Assay more info	PubMed
is_active_in lysosomal lumen	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: beta-glucuronidase

Names: adipose storage deficiency

NP_001343954.1

EC 3.2.1.31

NP_001343955.1

EC 3.2.1.31

NP_001343956.1

EC 3.2.1.31

NP_034498.1

EC 3.2.1.31

XP_011239155.1

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.

mRNA and Protein(s)

NM_001357025.1 → NP_001343954.1 beta-glucuronidase isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC161345, AI325302, AK041058

Conserved Domains (1) summary

cl27651
Location:6 → 438

Glyco_hydro_2; Glycosyl hydrolases family 2
NM_001357026.1 → NP_001343955.1 beta-glucuronidase isoform 3 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC161345

Consensus CDS

CCDS89993.1

UniProtKB/TrEMBL

Q8BPE3, Q99KJ6

Related

ENSMUSP00000106940.2, ENSMUST00000111308.8

Conserved Domains (1) summary

cl27651
Location:27 → 239

Glyco_hydro_2; Glycosyl hydrolases family 2
NM_001357027.1 → NP_001343956.1 beta-glucuronidase isoform 4 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an alternate exon and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AC161345, AK002832, AK041058

Consensus CDS

CCDS89992.1

UniProtKB/TrEMBL

D3YY48

Related

ENSMUSP00000106939.2, ENSMUST00000111307.2

Conserved Domains (1) summary

cl27651
Location:27 → 143

Glyco_hydro_2; Glycosyl hydrolases family 2
NM_010368.2 → NP_034498.1 beta-glucuronidase isoform 1 precursor

See identical proteins and their annotated locations for NP_034498.1

Status: VALIDATED

Description

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

Source sequence(s)

AC161345, AI325302, AK150048

Consensus CDS

CCDS19705.1

UniProtKB/Swiss-Prot

P12265, Q61601, Q64473, Q64474, Q6IR10

UniProtKB/TrEMBL

Q3TW82

Related

ENSMUSP00000026613.8, ENSMUST00000026613.14

Conserved Domains (4) summary

PRK10150
Location:27 → 627

PRK10150; beta-D-glucuronidase; Provisional

pfam00703
Location:225 → 323

Glyco_hydro_2; Glycosyl hydrolases family 2

pfam02836
Location:325 → 627

Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain

pfam02837
Location:36 → 223

Glyco_hydro_2_N; Glycosyl hydrolases family 2, sugar binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

130011278..130031890 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011240853.2 → XP_011239155.1 beta-glucuronidase isoform X1

Conserved Domains (1) summary

cl30613
Location:23 → 409

LacZ; Beta-galactosidase/beta-glucuronidase [Carbohydrate transport and metabolism]