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Aliases for GUSB Gene

Aliases for GUSB Gene

  • Glucuronidase, Beta 2 3
  • EC 3.2.1.31 4 63
  • Beta-G1 3 4
  • MPS7 3 6
  • Beta-D-Glucuronidase 3
  • Beta-Glucuronidase 3
  • BG 3

External Ids for GUSB Gene

Previous GeneCards Identifiers for GUSB Gene

  • GC07M064065
  • GC07M064823
  • GC07M064837
  • GC07M064869
  • GC07M065064
  • GC07M065425
  • GC07M061613

Summaries for GUSB Gene

Entrez Gene Summary for GUSB Gene

  • 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]

GeneCards Summary for GUSB Gene

GUSB (Glucuronidase, Beta) is a Protein Coding gene. Diseases associated with GUSB include mucopolysaccharidosis vii and necrotizing ulcerative gingivitis. Among its related pathways are Disease and Lysosome. GO annotations related to this gene include beta-glucuronidase activity.

UniProtKB/Swiss-Prot for GUSB Gene

  • Plays an important role in the degradation of dermatan and keratan sulfates

Gene Wiki entry for GUSB Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GUSB Gene

Genomics for GUSB Gene

Regulatory Elements for GUSB Gene

Genomic Location for GUSB Gene

Start:
65,960,684 bp from pter
End:
65,982,314 bp from pter
Size:
21,631 bases
Orientation:
Minus strand

Genomic View for GUSB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GUSB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GUSB Gene

Proteins for GUSB Gene

  • Protein details for GUSB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08236-BGLR_HUMAN
    Recommended name:
    Beta-glucuronidase
    Protein Accession:
    P08236
    Secondary Accessions:
    • B4E1F6
    • E9PCV0
    • Q549U0
    • Q96CL9

    Protein attributes for GUSB Gene

    Size:
    651 amino acids
    Molecular mass:
    74732 Da
    Quaternary structure:
    • Homotetramer

    Three dimensional structures from OCA and Proteopedia for GUSB Gene

    Alternative splice isoforms for GUSB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GUSB Gene

Proteomics data for GUSB Gene at MOPED

Post-translational modifications for GUSB Gene

  • N-linked glycosylated with 3 to 4 oligosaccharide chains.
  • Ubiquitination at Lys39 and Lys641
  • Glycosylation at Asn173, Asn272, Asn420, and Asn631
  • Modification sites at PhosphoSitePlus

Other Protein References for GUSB Gene

Antibody Products

  • R&D Systems Antibodies for GUSB (beta-Glucuronidase/GUSB)

Domains for GUSB Gene

Suggested Antigen Peptide Sequences for GUSB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08236

UniProtKB/Swiss-Prot:

BGLR_HUMAN :
  • P08236
Family:
  • Belongs to the glycosyl hydrolase 2 family.
genes like me logo Genes that share domains with GUSB: view

No data available for Gene Families for GUSB Gene

Function for GUSB Gene

Molecular function for GUSB Gene

GENATLAS Biochemistry: glucuronidase,beta-,lysosomal,acting on dermatan sulfate,heparan sulfate,catalyzing the fifth step of degradation of glucosaminoglycans (mucopolysaccharides)
UniProtKB/Swiss-Prot CatalyticActivity: A beta-D-glucuronoside + H(2)O = D-glucuronate + an alcohol
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by L-aspartic acid
UniProtKB/Swiss-Prot Function: Plays an important role in the degradation of dermatan and keratan sulfates

Enzyme Numbers (IUBMB) for GUSB Gene

Gene Ontology (GO) - Molecular Function for GUSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds --
GO:0004566 beta-glucuronidase activity TAS --
GO:0005102 receptor binding IPI 20028034
GO:0019904 protein domain specific binding IPI 20028034
genes like me logo Genes that share ontologies with GUSB: view
genes like me logo Genes that share phenotypes with GUSB: view

miRNA for GUSB Gene

miRTarBase miRNAs that target GUSB

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for GUSB Gene

Localization for GUSB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GUSB Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GUSB Gene COMPARTMENTS Subcellular localization image for GUSB gene
Compartment Confidence
lysosome 5
vacuole 5
chloroplast 2
cytosol 2
endoplasmic reticulum 2
endosome 2
extracellular 2
golgi apparatus 2
mitochondrion 2
nucleus 2
plasma membrane 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GUSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome --
GO:0016020 membrane IDA 19946888
GO:0043202 lysosomal lumen TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with GUSB: view

Pathways for GUSB Gene

genes like me logo Genes that share pathways with GUSB: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Adherens Junctions in human,mouse,rat
    • Adipogenesis in human,mouse,rat
    • Allergy & Asthma in human,mouse,rat
    • Alzheimers Disease in human,mouse,rat
    • Amino Acid Metabolism I in human,mouse,rat

Gene Ontology (GO) - Biological Process for GUSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006027 glycosaminoglycan catabolic process TAS --
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0030212 hyaluronan metabolic process TAS --
GO:0030214 hyaluronan catabolic process TAS --
genes like me logo Genes that share ontologies with GUSB: view

Compounds for GUSB Gene

(86) HMDB Compounds for GUSB Gene

Compound Synonyms Cas Number PubMed IDs
(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)
  • (23S)-23,25-dihydroxy-24-oxovitamin D3 23-(beta-glucuronide)
Not Available
1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate)-beta-D-Glucopyranuronic acid
  • Ibuprofen acyl glucuronide
115075-59-7
11-beta-hydroxyandrosterone-3-glucuronide
  • 11-beta-hydroxyetiocholanolone-3-glucuronide
Not Available
11-Hydroxyprogesterone 11-glucuronide
  • 11-hydroxyprogesterone 11-glucuronoside
77710-64-6
11-Oxo-androsterone glucuronide
  • 11-oxo-etiocholanolone glucuronide
Not Available

(1) Drugbank Compounds for GUSB Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Alpha-D-Mannose
3458-28-4 target

(156) Novoseek inferred chemical compound relationships for GUSB Gene

Compound -log(P) Hits PubMed IDs
glucuronide 89 52
temazepam glucuronide 78.3 4
bilirubin diglucuronide 71.7 5
d-glucaro-1,4-lactone 71.6 4
n-hydroxymexiletine glucuronide 71.1 1
genes like me logo Genes that share compounds with GUSB: view

Transcripts for GUSB Gene

Unigene Clusters for GUSB Gene

Glucuronidase, beta:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GUSB

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GUSB Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^
SP1: - - -
SP2: - - -
SP3: -
SP4: - - -
SP5: - - -
SP6: -
SP7: - -
SP8: -
SP9: - - - -
SP10: - - - - -
SP11: -
SP12:
SP13: - - - -
SP14: - - - - - - - - -
SP15: - - - - - - - - - - - - - - - - - - -
SP16: - - - - - - - - - - - - -
SP17: - - - - - - - - - - - - - - -

ExUns: 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: - - - -
SP16:
SP17:

Relevant External Links for GUSB Gene

GeneLoc Exon Structure for
GUSB
ECgene alternative splicing isoforms for
GUSB

Expression for GUSB Gene

mRNA expression in normal human tissues for GUSB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GUSB Gene

SOURCE GeneReport for Unigene cluster for GUSB Gene Hs.255230

genes like me logo Genes that share expressions with GUSB: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GUSB Gene

Orthologs for GUSB Gene

This gene was present in the common ancestor of animals.

Orthologs for GUSB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GUSB 35
  • 99.64 (n)
  • 99.54 (a)
GUSB 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GUSB 35
  • 83.9 (n)
  • 80.62 (a)
GUSB 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GUSB 35
  • 82.92 (n)
  • 81.54 (a)
GUSB 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gusb 35
  • 77.79 (n)
  • 74.96 (a)
Gusb 16
Gusb 36
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GUSB 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GUSB 36
  • 40 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gusb 35
  • 78.05 (n)
  • 75.58 (a)
chicken
(Gallus gallus)
Aves GUSB 35
  • 69.19 (n)
  • 70.66 (a)
GUSB 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GUSB 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gusb 35
  • 64.29 (n)
  • 67.21 (a)
Str.15952 35
zebrafish
(Danio rerio)
Actinopterygii gusb 35
  • 65.61 (n)
  • 67 (a)
gusb 36
  • 66 (a)
OneToMany
GUSB (1 of 2) 36
  • 66 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011859 35
  • 54.63 (n)
  • 48.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15117 35
  • 54.53 (n)
  • 48.57 (a)
CG15117 36
  • 42 (a)
OneToMany
CG2135 36
  • 37 (a)
OneToMany
CG2135 37
  • 42 (a)
CG15117 37
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y105E8B.9 35
  • 49.97 (n)
  • 41.03 (a)
Y105E8B.9 36
  • 38 (a)
OneToOne
Y105E8B.9 37
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToOne
Species with no ortholog for GUSB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GUSB Gene

ENSEMBL:
Gene Tree for GUSB (if available)
TreeFam:
Gene Tree for GUSB (if available)

Paralogs for GUSB Gene

Selected SIMAP similar genes for GUSB Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with GUSB: view

No data available for Paralogs for GUSB Gene

Variants for GUSB Gene

Sequence variations from dbSNP and Humsavar for GUSB Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs9530 Benign, - 65,960,907(-) CAGCC(C/T)GTTTA missense, reference, nc-transcript-variant
rs736270 -- 65,963,835(+) GCCAC(C/T)ACACC intron-variant
rs781141 -- 65,973,566(+) tggcc(A/G)cggag intron-variant
rs781142 -- 65,973,791(+) ctggg(C/T)gtgat intron-variant
rs781143 Benign 65,974,892(+) GCCCC(C/G)ACAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GUSB Gene

Variant ID Type Subtype PubMed ID
esv2664145 CNV Deletion 23128226
nsv888321 CNV Gain 21882294
esv21527 CNV Gain 19812545
dgv7319n71 CNV Gain 21882294

Relevant External Links for GUSB Gene

HapMap Linkage Disequilibrium report
GUSB
Human Gene Mutation Database (HGMD)
GUSB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GUSB Gene

Disorders for GUSB Gene

(1) OMIM Diseases for GUSB Gene (611499)

UniProtKB/Swiss-Prot

BGLR_HUMAN
  • Mucopolysaccharidosis 7 (MPS7) [MIM:253220]: An autosomal recessive lysosomal storage disease characterized by inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment. {ECO:0000269 PubMed:12522561, ECO:0000269 PubMed:12859417, ECO:0000269 PubMed:1702266, ECO:0000269 PubMed:7573038, ECO:0000269 PubMed:7633414, ECO:0000269 PubMed:7680524, ECO:0000269 PubMed:8089138, ECO:0000269 PubMed:8111412, ECO:0000269 PubMed:8111413, ECO:0000269 PubMed:8644704, ECO:0000269 PubMed:8707294, ECO:0000269 PubMed:9099834, ECO:0000269 PubMed:9490302}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Mucopolysaccharidosis type 7 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.

(4) University of Copenhagen DISEASES for GUSB Gene

(92) Novoseek inferred disease relationships for GUSB Gene

Disease -log(P) Hits PubMed IDs
mucopolysaccharidosis type vii 96.3 109
lysosomal storage diseases 82.9 18
mucopolysaccharidosis 77.1 11
hydrops fetalis 59.6 14
morquios syndrome 58.9 1

Relevant External Links for GUSB

Genetic Association Database (GAD)
GUSB
Human Genome Epidemiology (HuGE) Navigator
GUSB
genes like me logo Genes that share disorders with GUSB: view

Publications for GUSB Gene

  1. Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity. (PMID: 1702266) Tomatsu S. … Orii T. (Am. J. Hum. Genet. 1991) 3 4 23
  2. Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. (PMID: 7680524) Shipley J.M. … Sly W.S. (Am. J. Hum. Genet. 1993) 3 4 23
  3. Molecular analysis of a patient with hydrops fetalis caused by beta- glucuronidase deficiency, and evidence for additional pseudogenes. (PMID: 8111412) Vervoort R. … Liebaers I. (Hum. Mutat. 1993) 3 4 23
  4. Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. (PMID: 8111413) Wu B.M. … Sly W.S. (Hum. Mutat. 1993) 3 4 23
  5. Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. (PMID: 12522561) Storch S. … Braulke T. (Hum. Genet. 2003) 3 4 23

Products for GUSB Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Adherens Junctions in human,mouse,rat
    • Adipogenesis in human,mouse,rat
    • Allergy & Asthma in human,mouse,rat
    • Alzheimers Disease in human,mouse,rat
    • Amino Acid Metabolism I in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate GUSB
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat
  • Predesigned siRNA for gene silencing in human,mouse,rat for GUSB
  • Block miRNA regulation of GUSB using miScript Target Protectors

Sources for GUSB Gene

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