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Aliases for GUSB Gene

Aliases for GUSB Gene

  • Glucuronidase Beta 2 3
  • Glucuronidase, Beta 2 3 5
  • EC 3.2.1.31 4 63
  • Beta-G1 3 4
  • Beta-D-Glucuronidase 3
  • MPS7 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 hydrops fetalis. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include receptor binding and hydrolase activity, hydrolyzing O-glycosyl compounds.

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

Promoters for GUSB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GUSB on UCSC Golden Path with GeneCards custom track

Genomic Location for GUSB Gene

Chromosome:
7
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

Genes around GUSB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GUSB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 39 and Lys 641
  • Glycosylation at Asn 173, Asn 272, Asn 420, and Asn 631
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Domains & Families 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 :
  • Belongs to the glycosyl hydrolase 2 family.
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:0004566 beta-glucuronidase activity TAS --
genes like me logo Genes that share ontologies with GUSB: view
genes like me logo Genes that share phenotypes with GUSB: view

Human Phenotype Ontology for GUSB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for GUSB Gene

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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
extracellular 5
lysosome 5
vacuole 5
chloroplast 2
cytosol 2
mitochondrion 2
nucleus 2
plasma membrane 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GUSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0016020 membrane IDA 19946888
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with GUSB: view

Pathways & Interactions for GUSB Gene

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

Gene Ontology (GO) - Biological Process for GUSB Gene

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

No data available for SIGNOR curated interactions for GUSB Gene

Drugs & Compounds for GUSB Gene

(74) Drugs for GUSB Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1-Butanol Experimental Pharma 0
1-Proponol Experimental Pharma 0
D-Glucuronic acid Experimental Pharma 0
SN-38 Pharma 0

(167) Additional Compounds for GUSB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Acetaminophen glucuronide
  • 4-(Acetylamino)phenyl beta-D-glucopyranosiduronic acid
  • 4-(Acetylamino)phenyl beta-delta-glucopyranosiduronic acid
  • 4-Acetamidophenol glucuronide
  • 4-Acetamidophenyl b-D-glucopyranosiduronic acid
  • 4-Acetamidophenyl b-delta-glucopyranosiduronic acid
16110-10-4
bilirubin diglucuronide
  • (2S,3S,4S,5R,6S)-6-[3-[2-[[3-[2-[(2S,3R,4S,5S,6S)-6-carboxy-3,4,5-trihydroxy-oxan-2-yl]oxycarbonylethyl]-5-[(E)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(E)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoyloxy]-3,4,5-trihydroxy-oxane-2-carboxylate
  • (2S,3S,4S,5R,6S)-6-[3-[2-[[3-[2-[(2S,3R,4S,5S,6S)-6-carboxy-3,4,5-trihydroxy-oxan-2-yl]oxycarbonylethyl]-5-[(E)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(E)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoyloxy]-3,4,5-trihydroxy-oxane-2-carboxylic acid
  • Bilirubin beta-diglucuronide
  • Bilirubin-bisglucuronoside
  • Bis(glucosyluronic acid)bilirubin
17459-92-6
Dermatan
  • b-Heparin
  • beta-Heparin
  • Chondroitin sulfate B
  • Chondroitin sulfate type B
  • Chondroitin sulphate B
24967-94-0
SN38 glucuronide
(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)
  • (23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronoside)
  • (23S)-23,25-dihydroxy-24-oxocholecalciferol 23-(beta-glucuronide)
  • (23S)-23,25-dihydroxy-24-oxovitamin D3 23-(beta-glucuronide)
  • (5Z,7E)-(3S,23S)-24-oxo-9,10-seco-5,7,10(19)-cholestatriene-3,23,25-triol 23-D-glucuronide
  • (5Z,7E)-(3S,23S)-24-oxo-9,10-seco-5,7,10(19)-cholestatriene-3,23,25-triol 23-delta-glucuronide
genes like me logo Genes that share compounds with GUSB: view

Transcripts for GUSB Gene

Unigene Clusters for GUSB Gene

Glucuronidase, beta:
Representative Sequences:

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

Protein differential expression in normal tissues from HIPED for GUSB Gene

This gene is overexpressed in Testis (11.6), Liver (8.2), and Urine (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with GUSB: view

Protein tissue co-expression partners for GUSB Gene

- Elite partner

Primer Products

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 36
  • 100 (a)
OneToOne
GUSB 35
  • 99.64 (n)
  • 99.54 (a)
cow
(Bos Taurus)
Mammalia GUSB 35
  • 83.9 (n)
  • 80.62 (a)
GUSB 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GUSB 36
  • 81 (a)
OneToOne
GUSB 35
  • 82.92 (n)
  • 81.54 (a)
mouse
(Mus musculus)
Mammalia Gusb 36
  • 75 (a)
OneToOne
Gusb 16
Gusb 35
  • 77.79 (n)
  • 74.96 (a)
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 36
  • 66 (a)
OneToMany
GUSB (1 of 2) 36
  • 66 (a)
OneToMany
gusb 35
  • 65.61 (n)
  • 67 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011859 35
  • 54.63 (n)
  • 48.98 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15117 36
  • 42 (a)
OneToMany
CG2135 36
  • 37 (a)
OneToMany
CG15117 35
  • 54.53 (n)
  • 48.57 (a)
CG15117 37
  • 45 (a)
CG2135 37
  • 42 (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

(1) 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
VAR_003196 Mucopolysaccharidosis 7 (MPS7)
VAR_003197 Mucopolysaccharidosis 7 (MPS7)
VAR_003198 Mucopolysaccharidosis 7 (MPS7)
VAR_003199 Mucopolysaccharidosis 7 (MPS7)
VAR_003200 Mucopolysaccharidosis 7 (MPS7)

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

Variation tolerance for GUSB Gene

Residual Variation Intolerance Score: 10.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.03% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(24) MalaCards diseases for GUSB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mucopolysaccharidosis vii
  • sjogren-larsson syndrome
hydrops fetalis
  • familial non-immune hydrops fetalis
non-immune hydrops fetalis
  • non-immune hf
mucopolysaccharidosis
  • mps
necrotizing ulcerative gingivitis
  • acute necrotising ulcerative gingivitis
- elite association - COSMIC cancer census association via MalaCards
Search GUSB in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for GUSB

Genetic Association Database (GAD)
GUSB
Human Genome Epidemiology (HuGE) Navigator
GUSB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GUSB
genes like me logo Genes that share disorders with GUSB: view

No data available for Genatlas for GUSB Gene

Publications for GUSB Gene

  1. Cloning, sequencing, and expression of cDNA for human beta- glucuronidase. (PMID: 3468507) Oshima A. … Gravel R.A. (Proc. Natl. Acad. Sci. U.S.A. 1987) 2 3 4 67
  2. Identification and functional analysis of genetic variants of the human beta-glucuronidase in a German population sample. (PMID: 16272959) Gratz M. … Kroemer H.K. (Pharmacogenet. Genomics 2005) 3 23
  3. Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. (PMID: 12522561) Storch S. … Braulke T. (Hum. Genet. 2003) 3 23
  4. Intravitreal gene therapy reduces lysosomal storage in specific areas of the CNS in mucopolysaccharidosis VII mice. (PMID: 12716937) Hennig A.K. … Sands M.S. (J. Neurosci. 2003) 3 23
  5. Histamine induces exocytosis and IL-6 production from human lung macrophages through interaction with H1 receptors. (PMID: 11238657) Triggiani M. … Marone G. (J. Immunol. 2001) 3 23

Products for GUSB Gene

Sources for GUSB Gene

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