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GUSB glucuronidase beta [ Homo sapiens (human) ]

Gene ID: 2990, updated on 20-Dec-2019

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

Genomic context

See GUSB in Genome Data Viewer
Location:
7q11.21
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (65960684..65982230, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (65425671..65447301, 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
beta-glucuronidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
carbohydrate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
carbohydrate metabolic process TAS
Traceable Author Statement
more info
PubMed 
glucuronoside catabolic process IEA
Inferred from Electronic Annotation
more info
 
glycosaminoglycan catabolic process TAS
Traceable Author Statement
more info
 
hyaluronan catabolic process TAS
Traceable Author Statement
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
membrane HDA 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)

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 109.20191205

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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