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    GUSB glucuronidase beta [ Homo sapiens (human) ]

    Gene ID: 2990, updated on 8-Jul-2021

    Summary

    Official Symbol
    GUSBprovided by HGNC
    Official Full Name
    glucuronidase betaprovided by HGNC
    Primary source
    HGNC:HGNC:4696
    See related
    Ensembl:ENSG00000169919 MIM:611499
    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
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    Genomic context

    See GUSB in Genome Data Viewer
    Location:
    7q11.21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (65960684..65982230, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (65425671..65447200, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 973, pseudogene Neighboring gene vitamin K epoxide reductase complex subunit 1 like 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 75 Neighboring gene uncharacterized LOC105375336 Neighboring gene CGRP receptor component pseudogene Neighboring gene golgin A7 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ39445

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-glucuronidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables beta-glucuronidase activity TAS
    Traceable Author Statement
    more info
     
    enables carbohydrate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in glucuronoside catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in glycosaminoglycan catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    beta-glucuronidase
    Names
    beta-D-glucuronidase
    beta-G1
    NP_000172.2
    NP_001271219.1
    NP_001280033.1
    NP_001280034.1
    XP_005250354.1
    XP_011514415.1
    XP_011514416.1
    XP_016867580.1
    XP_016867581.1
    XP_016867582.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_016197.1 RefSeqGene

      Range
      5102..26631
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000181.4NP_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
      P08236
      Related
      ENSP00000302728.4, ENST00000304895.9
      Conserved Domains (1) summary
      cl27651
      Location:27631
      Glyco_hydro_2; Glycosyl hydrolases family 2
    2. NM_001284290.2NP_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:27485
      PRK10150; beta-D-glucuronidase; Provisional
      pfam02836
      Location:183485
      Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain
      pfam02837
      Location:36158
      Glyco_hydro_2_N; Glycosyl hydrolases family 2, sugar binding domain
    3. NM_001293104.2NP_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:36137
      Glyco_hydro_2; Glycosyl hydrolases family 2
      pfam02836
      Location:139441
      Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain
    4. NM_001293105.2NP_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/Swiss-Prot
      P08236
      Conserved Domains (1) summary
      pfam02836
      Location:110412
      Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain

    RNA

    1. 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

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      65960684..65982230 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012092.1XP_016867581.1  beta-glucuronidase isoform X5

    2. XM_017012091.1XP_016867580.1  beta-glucuronidase isoform X3

    3. XM_011516113.1XP_011514415.1  beta-glucuronidase isoform X2

      Conserved Domains (1) summary
      pfam02836
      Location:162464
      Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain
    4. XM_005250297.4XP_005250354.1  beta-glucuronidase isoform X1

      UniProtKB/Swiss-Prot
      P08236
      Conserved Domains (4) summary
      PRK10150
      Location:27580
      PRK10150; beta-D-glucuronidase; Provisional
      pfam00703
      Location:226306
      Glyco_hydro_2; Glycosyl hydrolases family 2
      pfam02837
      Location:36224
      Glyco_hydro_2_N; Glycosyl hydrolases family 2, sugar binding domain
      cl23725
      Location:305580
      Glyco_hydro_1; Glycosyl hydrolase family 1
    5. XM_017012093.2XP_016867582.1  beta-glucuronidase isoform X6

    6. XM_011516114.2XP_011514416.1  beta-glucuronidase isoform X4

      Conserved Domains (1) summary
      pfam02836
      Location:105407
      Glyco_hydro_2_C; Glycosyl hydrolases family 2, TIM barrel domain

    RNA

    1. XR_001744658.2 RNA Sequence

    2. XR_001744659.2 RNA Sequence

    3. XR_001744661.2 RNA Sequence

    4. XR_001744660.2 RNA Sequence

    5. XR_927461.3 RNA Sequence

      Related
      ENST00000447929.5
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