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GUSB glucuronidase beta [ Homo sapiens (human) ]

Gene ID: 2990, updated on 10-Dec-2024

Summary

Official Symbol
GUSBprovided by HGNC
Official Full Name
glucuronidase betaprovided by HGNC
Primary source
HGNC:HGNC:4696
See related
Ensembl:ENSG00000169919 MIM:611499; AllianceGenome:HGNC:4696
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (65960684..65982213, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (67182808..67204306, complement)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 18200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:65337908-65338459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:65339011-65339562 Neighboring gene vitamin K epoxide reductase complex subunit 1 like 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:65386680-65386862 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 75 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:65432190-65433389 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:65434861-65435362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:65438978-65439688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:65445029-65445789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26076 Neighboring gene uncharacterized LOC105375336 Neighboring gene CGRP receptor component pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:65509069-65509569 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:65516808-65516986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26079 Neighboring gene golgin A7 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Clone Names

  • FLJ39445

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-glucuronidase activity  
enables beta-glucuronidase activity  
enables carbohydrate binding  
enables protein domain specific binding PubMed 
enables signaling receptor binding  
enables signaling receptor binding 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_016867580.1
XP_047276242.1
XP_047276243.1
XP_047276244.1
XP_047276245.1
XP_047276246.1
XP_054214006.1
XP_054214007.1
XP_054214008.1
XP_054214009.1
XP_054214010.1
XP_054214011.1

NCBI Reference Sequences (RefSeq)

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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
    B4E1F6, E9PCV0, P08236, Q549U0, Q96CL9
    UniProtKB/TrEMBL
    B2R6X2
    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/TrEMBL
    B4DTH9
    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
    Related
    ENST00000447929.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    65960684..65982213 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250297.5XP_005250354.1  beta-glucuronidase isoform X1

    UniProtKB/TrEMBL
    B2R6X2
    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
  2. XM_047420289.1XP_047276245.1  beta-glucuronidase isoform X6

    UniProtKB/TrEMBL
    B4DTH9
  3. XM_047420286.1XP_047276242.1  beta-glucuronidase isoform X2

  4. XM_047420288.1XP_047276244.1  beta-glucuronidase isoform X5

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

  6. XM_047420290.1XP_047276246.1  beta-glucuronidase isoform X7

  7. XM_047420287.1XP_047276243.1  beta-glucuronidase isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    67182808..67204306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358031.1XP_054214006.1  beta-glucuronidase isoform X1

    UniProtKB/TrEMBL
    B2R6X2
  2. XM_054358036.1XP_054214011.1  beta-glucuronidase isoform X6

    UniProtKB/TrEMBL
    B4DTH9
  3. XM_054358032.1XP_054214007.1  beta-glucuronidase isoform X2

  4. XM_054358035.1XP_054214010.1  beta-glucuronidase isoform X5

  5. XM_054358033.1XP_054214008.1  beta-glucuronidase isoform X3

  6. XM_054358034.1XP_054214009.1  beta-glucuronidase isoform X4

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