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GUSB Gene

protein-coding   GIFtS: 70
GCID: GC07M065425

Glucuronidase, Beta

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glucuronidase, Beta1 2     beta-D-glucuronidase2
EC 3.2.1.313 8     beta-G12
MPS72 5     beta-glucuronidase2
BG2     Beta-G13

External Ids:    HGNC: 46961   Entrez Gene: 29902   Ensembl: ENSG000001699197   OMIM: 6114995   UniProtKB: P082363   

Export aliases for GUSB gene to outside databases

Previous GC identifers: GC07M064065 GC07M064823 GC07M064837 GC07M064869 GC07M065064 GC07M061613


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. There are many pseudogenes of this locus in the human
genome.(provided by RefSeq, Nov 2009)

GeneCards Summary for GUSB Gene:
GUSB (glucuronidase, beta) is a protein-coding gene. Diseases associated with GUSB include non-immune hydrops fetalis, and choledocholithiasis. GO annotations related to this gene include beta-glucuronidase activity.

UniProtKB/Swiss-Prot: BGLR_HUMAN, P08236
Function: Plays an important role in the degradation of dermatan and keratan sulfates

Gene Wiki entry for GUSB Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GUSB gene promoter:
         TBP   Ik-2   AML1a   Sp1   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): GUSB promoter sequence
   Search Chromatin IP Primers for GUSB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GUSB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q21.11   Ensembl cytogenetic band:  7q11.21   HGNC cytogenetic band: 7q11.21

GUSB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GUSB gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M065425:  view genomic region     (about GC identifiers)

Start:
65,425,671 bp from pter      End:
65,447,301 bp from pter
Size:
21,631 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 64,763,190-64,784,820     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BGLR_HUMAN, P08236 (See protein sequence)
Recommended Name: Beta-glucuronidase precursor  
Size: 651 amino acids; 74732 Da
Subunit: Homotetramer
2 PDB 3D structures from and Proteopedia for GUSB:
1BHG (3D)        3HN3 (3D)    
Secondary accessions: Q549U0 Q96CL9
Alternative splicing: 2 isoforms:  P08236-1   P08236-2   

Explore the universe of human proteins at neXtProt for GUSB: NX_P08236

Explore proteomics data for GUSB at MOPED

Post-translational modifications: 

  • N-linked glycosylated with 3 to 4 oligosaccharide chains1
  • Ubiquitination2 at Lys39, Lys641
  • Glycosylation2 at Asn173, Asn272, Asn420, Asn631
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GUSB (P08236) (see all 13)
     DFFNYAG  TLPPGTI  SKYPKGYF  PKSAAFLL 


    See GUSB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000172.2  NP_001271219.1  

    ENSEMBL proteins: 
     ENSP00000302728   ENSP00000411262   ENSP00000411859   ENSP00000391390   ENSP00000416793  
     ENSP00000340734  
    Reactome Protein details: P08236

    GUSB Human Recombinant Protein Products:

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    Novus Biologicals GUSB Protein
    Novus Biologicals GUSB Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    GUSB Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GUSB
    R&D Systems Antibodies for GUSB (beta-Glucuronidase/GUSB)
    OriGene Antibodies for GUSB
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    Novus Biologicals GUSB Antibodies
    Abcam antibodies for GUSB
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for GUSB
    LSBio Antibodies in human, mouse, rat for GUSB

    GUSB Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 10):
     IPR023230 Glyco_hydro_2_CS
     IPR017853 Glycoside_hydrolase_SF
     IPR008979 Galactose-bd-like
     IPR013812 Glyco_hydro_2/20_Ig-like
     IPR013781 Glyco_hydro_catalytic_dom

    Graphical View of Domain Structure for InterPro Entry P08236

    ProtoNet protein and cluster: P08236

    1 Blocks protein domain: IPB006103 Glycoside hydrolase

    UniProtKB/Swiss-Prot: BGLR_HUMAN, P08236
    Similarity: Belongs to the glycosyl hydrolase 2 family


    GUSB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BGLR_HUMAN, P08236
    Function: Plays an important role in the degradation of dermatan and keratan sulfates
    Catalytic activity: A beta-D-glucuronoside + H(2)O = D-glucuronate + an alcohol
    Enzyme regulation: Inhibited by L-aspartic acid

         Genatlas biochemistry entry for GUSB:
    glucuronidase,beta-,lysosomal,acting on dermatan sulfate,heparan sulfate,catalyzing the fifth step of degradation
    of glucosaminoglycans (mucopolysaccharides)

         Enzyme Number (IUBMB): EC 3.2.1.311 2

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004566beta-glucuronidase activity TAS--
         
    GUSB for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for GUSB:
     Cells with protrusions  Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         Selected MGI mutant phenotypes (inferred from 7 alleles(MGI details for Gusb) (see all 16):
     adipose tissue  behavior/neurological  cellular  craniofacial  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  integument 
     limbs/digits/tail  mortality/aging  normal  renal/urinary system  reproductive system 

    GUSB for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GUSB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GUSB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GUSB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GUSB

    miRNA
    Products:
        
    miRTarBase miRNAs that target GUSB:
    hsa-mir-760 (MIRT036746), hsa-mir-26b-5p (MIRT030165)

    Block miRNA regulation of human, mouse, rat GUSB using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GUSB:
    hsa-miR-3190
    SwitchGear 3'UTR luciferase reporter plasmidGUSB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GUSB
    Predesigned siRNA for gene silencing in human, mouse, rat GUSB

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GUSB

    Clone
    Products:
         
    OriGene clones in human, mouse for GUSB (see all 6)
    OriGene ORF clones in mouse, rat for GUSB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GUSB (NM_000181)
    Sino Biological Human cDNA Clone for GUSB
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GUSB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GUSB

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for GUSB 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GUSB


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BGLR_HUMAN, P08236: Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    lysosome5
    vacuole5
    chloroplast2
    cytosol2
    endoplasmic reticulum2
    endosome2
    extracellular2
    golgi apparatus2
    mitochondrion2
    nucleus2
    plasma membrane2
    cytoskeleton1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome ----
    GO:0043202lysosomal lumen TAS--
    GO:0043231intracellular membrane-bounded organelle IDA--
    GO:0070062extracellular vesicular exosome IDA19056867

    GUSB for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GUSB About   (see all 8)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIID - Sanfilippo syndrome D0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS I - Hurler syndrome0.45
    MPS IV - Morquio syndrome A0.45
    MPS IV - Morquio syndrome B0.45
    MPS IIIA - Sanfilippo syndrome A0.45
    MPS VII - Sly syndrome0.45
    3Glucuronidation
    Pentose and glucuronate interconversions0.61
    Drug metabolism - other enzymes0.36
    Starch and sucrose metabolism0.41
    4Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.57
    HS-GAG degradation0.39
    5Metabolism of porphyrins
    Porphyrin and chlorophyll metabolism0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for GUSB
        Hyaluronan uptake and degradation
    HS-GAG degradation


    Selected Kegg Pathways  (Kegg details for GUSB) (see all 7):
        Pentose and glucuronate interconversions
    Starch and sucrose metabolism
    Glycosaminoglycan degradation
    Porphyrin and chlorophyll metabolism
    Drug metabolism - other enzymes


    GUSB for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GUSB (see all 146): 
              Antiviral Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Prostate Cancer in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GUSB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GUSB (P082362, 3 ENSP000003027284) via UniProtKB, MINT, STRING, and/or I2D (see all 67)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CES1P231413, ENSP000003537204I2D: score=2 STRING: ENSP00000353720
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    ATP6V1B2P212812, ENSP000002763904MINT-4054731 STRING: ENSP00000276390
    GLB1P162782, ENSP000003069204MINT-4054731 STRING: ENSP00000306920
    SLC2A4P146723I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006027glycosaminoglycan catabolic process TAS--
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0030212hyaluronan metabolic process TAS--
    GO:0030214hyaluronan catabolic process TAS--

    GUSB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GUSB (BGLR)

    Selected HMDB Compounds for GUSB (see all 86)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)(23S)-23,25-dihydroxy-24-oxovitamin D3 23-(beta-glucuronide) (see all 5)----
    1-(alpha-Methyl-4-(2-methylpropyl)benzeneacetate)-beta-D-Glucopyranuronic acidIbuprofen acyl glucuronide;(2S,3S,4S,5R,6S)-3,4,5-trihydroxy-6-[2-[4-(2-methylpropyl)phenyl]propanoyloxy]oxane-2-carboxylic acid (see all 5)115075-59-7--
    1-Butanol1-Butanol (see all 10)71-36-3--
    1-Hexanol1-Hexyl alcohol (see all 30)111-27-3--
    1-Pentanol1-Pentol (see all 34)71-41-0--
    1-Salicylate glucuronide1-salicylic acid glucuronide ----
    11-Hydroxyprogesterone 11-glucuronide11-hydroxyprogesterone 11-glucuronoside (see all 5)77710-64-6--
    11-Oxo-androsterone glucuronide11-oxo-etiocholanolone glucuronide (see all 3)----
    11-beta-hydroxyandrosterone-3-glucuronide11-beta-hydroxyetiocholanolone-3-glucuronide ----
    15-hydroxynorandrostene-3,17-dione glucuronide15-HNADG (see all 5)131749-23-0--

    1 DrugBank Compound for GUSB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-D-Mannose-- 3458-28-4target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for GUSB gene (see all 156)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucuronide 89 57 9192823 (2), 11160851 (2), 10753066 (2), 8454708 (1) (see all 49)
    temazepam glucuronide 78.3 4 11305436 (2), 1783647 (1), 11908630 (1)
    bilirubin diglucuronide 71.7 5 8845801 (1), 11522976 (1), 9249878 (1), 19390887 (1) (see all 5)
    d-glucaro-1,4-lactone 71.6 4 18718121 (2), 1826840 (1), 8096720 (1)
    n-hydroxymexiletine glucuronide 71.1 1 9951400 (1)
    fmlp 70.1 52 2150408 (2), 1722562 (2), 1281979 (2), 1652137 (2) (see all 36)
    hydroxyethylflurazepam 69.3 2 12545496 (1)
    lorazepam glucuronide 68.9 3 11305436 (2), 11908630 (1)
    mannose 6-phosphate 68.7 19 9873065 (3), 2221912 (2), 2172972 (1), 1846001 (1) (see all 13)
    alpha-benzyl-n-methylphenethylamine 67.7 2 8577176 (1), 8868398 (1)



    GUSB for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GUSB gene (2 alternative transcripts): 
    NM_000181.3  NM_001284290.1  

    Unigene Cluster for GUSB:

    Glucuronidase, beta
    Hs.255230  [show with all ESTs]
    Unigene Representative Sequence: AK096764
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000304895(uc003tun.3 uc011kdt.2) ENST00000466883 ENST00000447929
    ENST00000430730 ENST00000421103 ENST00000461622 ENST00000462371 ENST00000465785
    ENST00000479038 ENST00000489482 ENST00000475316 ENST00000476486 ENST00000446111(uc010kzw.2)
    ENST00000478118 ENST00000345660
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
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    1 qRT-PCR Assays for microRNA that regulate GUSB:
    hsa-miR-3190
    SwitchGear 3'UTR luciferase reporter plasmidGUSB 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GUSB
    Predesigned siRNA for gene silencing in human, mouse, rat GUSB
    Clone
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    OriGene ORF clones in mouse, rat for GUSB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GUSB (NM_000181)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GUSB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GUSB
    Primer
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    OriGene qPCR primer pairs and template standards for GUSB
    OriGene qSTAR qPCR primer pairs in human, mouse for GUSB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GUSB
      QuantiTect SYBR Green Assays in human, mouse, rat GUSB
      QuantiFast Probe-based Assays in human, mouse, rat GUSB

    Additional mRNA sequence: 

    AK096764.1 AK223406.1 AK300223.1 AK303819.1 AK311273.1 AK312752.1 BC014142.2 M10618.1 
    M15182.1 

    23 DOTS entries:

    DT.85105502  DT.100820083  DT.101984644  DT.100695069  DT.91652801  DT.100820085  DT.100702879  DT.100820084 
    DT.121127649  DT.95187368  DT.121127423  DT.92436577  DT.100027364  DT.91886293  DT.75145510  DT.100694161 
    DT.121127391  DT.121127463  DT.121127502  DT.121127611  DT.92436578  DT.95325673  DT.92436574 

    Selected AceView cDNA sequences (see all 208):

    CA453907 BX363460 AI917591 BF001258 BQ941196 BM787663 BM757911 CR593823 
    CA489317 BM770952 CN481727 BM760212 BQ684118 BE328719 BU539762 BC014142 
    CD014092 BG121498 AI739380 BM684077 BQ681861 CD014094 BI905961 BX281037 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GUSB (see all 17)    About this scheme

    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:                                                                                            -                                   -     -                     

    ExUns: 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for GUSB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GUSB expression in normal human tissues (normalized intensities)      GUSB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGTGGCTA
    GUSB Expression
    About this image


    GUSB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Placenta (Extraembryonic Tissues)
             Extravillous Cytotrophoblast Cells Extravillous Cytotrophoblast Layer
     
     Liver (Hepatobiliary System)
             Periportal Hepatocytes Liver Lobule
     
     Blood (Cardiovascular System)
             Conventional Dendritic Cells I Spleen
     
     Eye (Sensory Organs)
             Lens
    GUSB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GUSB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.255230
        Pathway & Disease-focused RT2 Profiler PCR Arrays including GUSB (see all 146): 
              Antiviral Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Prostate Cancer in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GUSB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for GUSB gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gusb1 , 5 glucuronidase, beta1, 5 77.79(n)1
    74.96(a)1
      5 (68.32 cM)5
    1100061  NM_010368.11  NP_034498.11 
     1299890115 
    chicken
    (Gallus gallus)
    Aves GUSB1 glucuronidase, beta 69.19(n)
    70.66(a)
      427823  NM_001039316.2  NP_001034405.1 
    lizard
    (Anolis carolinensis)
    Reptilia GUSB6
    glucuronidase, beta
    64(a)
    1 ↔ 1
    AAWZ02039867(21-7738)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.159522 Transcribed sequence with moderate similarity to protein more 76.82(n)    BX745933.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gusb1 glucuronidase, beta 65.61(n)
    67(a)
      571441  XM_695030.6  XP_700122.6 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG151171 , 3 beta-glucuronidase3
    CG151171
    45(a)
    (best of 2)3
    54.53(n)1
    48.57(a)1
      56B53
    371971  NM_166324.11  NP_725851.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y105E8B.93
    CELE_Y105E8B.91
    CELE_Y105E8B.91 39(a)3
    49.97(n)1
    41.03(a)1
      I(14683748-14690604)3
    1733261  NM_061147.31  NP_493548.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GUSB gene
    1 SIMAP similar gene for GUSB using alignment to 4 protein entries:     BGLR_HUMAN (see all proteins):
    F8

    GUSB for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for GUSB (see all 22)
    PGOHUM00000250322 PGOHUM00000246093 PGOHUM00000261906 PGOHUM00000261907 PGOHUM00000261908


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GUSB (see all 630)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1911534601,2,,4
    CMucopolysaccharidosis 7 (MPS7)4 --68920897(+) CTCATA/GCTTGT 2 H Y mis10--------
    rs1219181821,2,,4
    CMucopolysaccharidosis 7 (MPS7)4 pathogenic168920898(-) AACAAA/C/GCATGA 2 N K mis10--------
    VAR_0585114
    Mucopolysaccharidosis 7 (MPS7)4--see VAR_0585112 P S mis40--------
    VAR_0379224
    Mucopolysaccharidosis 7 (MPS7)4--see VAR_0379222 Y S mis40--------
    VAR_0379304
    Mucopolysaccharidosis 7 (MPS7)4--see VAR_0379302 R W mis40--------
    VAR_0032014
    Mucopolysaccharidosis 7 (MPS7)4--see VAR_0032012 W C mis40--------
    VAR_0585134
    Mucopolysaccharidosis 7 (MPS7)4--see VAR_0585132 L P mis40--------
    VAR_0379274
    Mucopolysaccharidosis 7 (MPS7)4--see VAR_0379272 P S mis40--------
    VAR_0031974
    Mucopolysaccharidosis 7 (MPS7)4--see VAR_0031972 A V mis40--------
    VAR_0585184
    Mucopolysaccharidosis 7 (MPS7)4--see VAR_0585182 E K mis40--------

    HapMap Linkage Disequilibrium report for GUSB (65425671 - 65447301 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for GUSB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664145CNV Deletion23128226
    esv21527CNV Gain19812545
    nsv888321CNV Gain21882294
    dgv7319n71CNV Gain21882294

    Human Gene Mutation Database (HGMD): GUSB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GUSB
    DNA2.0 Custom Variant and Variant Library Synthesis for GUSB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 611499   
    OMIM disorders: 253220  
    UniProtKB/Swiss-Prot: BGLR_HUMAN, P08236
  • 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. 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

  • Selected diseases for GUSB (see all 113):    About MalaCards
    non-immune hydrops fetalis    choledocholithiasis    immune hydrops fetalis    necrotizing ulcerative gingivitis
    sly syndrome    bronchopneumonia    cholelithiasis    chediak-higashi syndrome
    viral meningitis    mucolipidoses    acalculous cholecystitis    mucopolysaccharidoses
    hydrops fetalis    meningitis    fabry disease    cholecystitis
    vohwinkel syndrome    mouth disease    bacteremia    mucopolysaccharidosis

    4 diseases from the University of Copenhagen DISEASES database for GUSB:
    Mucopolysaccharidosis     Cancer     Periodontal disease     Arthritis

    GUSB for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for GUSB gene (see all 92)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mucopolysaccharidosis type vii 96.3 157 8831129 (4), 2111021 (3), 1632440 (2), 14642000 (2) (see all 90)
    lysosomal storage diseases 82.9 22 12591953 (2), 8083358 (1), 9616735 (1), 9134434 (1) (see all 17)
    mucopolysaccharidosis 77.1 15 10074197 (1), 14642000 (1), 10779845 (1), 11238101 (1) (see all 11)
    hydrops fetalis 59.6 14 1632440 (2), 8831129 (2), 8111412 (2), 1833732 (1) (see all 11)
    morquios syndrome 58.9 2 19243213 (1)
    i-cell disease 54.5 1 1309624 (1)
    periodontal diseases 48.2 11 18413987 (2), 7722845 (2), 8144731 (1), 11324213 (1) (see all 9)
    mucolipidosis iii 42.8 1 1309624 (1)
    chediak-higashi syndrome 39.4 1 9293701 (1)
    urine blood 26.4 3 8027935 (1), 11266492 (1)

    Genetic Association Database (GAD): GUSB
    Human Genome Epidemiology (HuGE) Navigator: GUSB (1 document)

    Export disorders for GUSB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GUSB gene, integrated from 10 sources (see all 802):
    (articles sorted by number of sources associating them with GUSB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, sequencing, and expression of cDNA for human beta- glucuronidase. (PubMed id 3468507)1, 2, 3 Oshima A.... Gravel R.A. (Proc. Natl. Acad. Sci. U.S.A. 1987)
    2. Identification and functional analysis of genetic variants of the human beta-glucuronidase in a German population sample. (PubMed id 16272959)1, 4, 9 Gratz M....Kroemer H.K. (Pharmacogenet. Genomics 2005)
    3. Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). (PubMed id 19224584)1, 2, 9 Tomatsu S.... Sly W.S. (Hum. Mutat. 2009)
    4. Molecular analysis of a patient with hydrops fetalis caused by beta- glucuronidase deficiency, and evidence for additional pseudogenes. (PubMed id 8111412)1, 2, 9 Vervoort R.... Liebaers I. (Hum. Mutat. 1993)
    5. Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. (PubMed id 12522561)1, 2, 9 Storch S.... Braulke T. (Hum. Genet. 2003)
    6. Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. (PubMed id 8644704)1, 2, 9 Vervoort R.... Lissens W. (Am. J. Hum. Genet. 1996)
    7. Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. (PubMed id 8111413)1, 2, 9 Wu B.M. and Sly W.S. (Hum. Mutat. 1993)
    8. Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. (PubMed id 7680524)1, 2, 9 Shipley J.M....Sly W.S. (Am. J. Hum. Genet. 1993)
    9. Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity. (PubMed id 1702266)1, 2, 9 Tomatsu S.... Orii T. (Am. J. Hum. Genet. 1991)
    10. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2990 HGNC: 4696 AceView: GUSB Ensembl:ENSG00000169919 euGenes: HUgn2990
    ECgene: GUSB Kegg: 2990 H-InvDB: GUSB

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GUSB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GUSB[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GUSB gene:
    Search GeneIP for patents involving GUSB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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