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Gusb Gene Detail
Summary
  • Symbol
    Gusb
  • Name
    glucuronidase, beta
  • Synonyms
    adipose storage deficiency, asd, g, Gur, Gus, Gus-r, Gus-s, Gus-t, Gus-u, Gut
  • Feature Type
    protein coding gene
  • IDs
    MGI:95872
    NCBI Gene: 110006
  • Gene Overview
    MyGene.info: GUSB
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:129989011-130003044 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 68.32 cM
  • Mapping Data
    109 experiments
  • Sequence Tags
Strain
Comparison
more
  • SNPs within 2kb
    136 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95872
protein coding gene Chr5:129989011-130003049 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030137
protein coding gene Chr5:134096143-134111289 (-)
A/J MGP_AJ_G0030105
protein coding gene Chr5:128441471-128455948 (-)
AKR/J MGP_AKRJ_G0030038
protein coding gene Chr5:132612996-132627023 (-)
BALB/cJ MGP_BALBcJ_G0030115
protein coding gene Chr5:129790874-129805647 (-)
C3H/HeJ MGP_C3HHeJ_G0029831
protein coding gene Chr5:133179632-133194352 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030568
protein coding gene Chr5:139227470-139241736 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027793
protein coding gene Chr5:122822576-122836694 (-)
CAST/EiJ MGP_CASTEiJ_G0029241
protein coding gene Chr5:132482177-132497611 (-)
CBA/J MGP_CBAJ_G0029801
protein coding gene Chr5:144665215-144683380 (-)
DBA/2J MGP_DBA2J_G0029952
protein coding gene Chr5:128406071-128420385 (-)
FVB/NJ MGP_FVBNJ_G0029907
protein coding gene Chr5:127499036-127513049 (-)
LP/J MGP_LPJ_G0030040
protein coding gene Chr5:134607885-134621908 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029939
protein coding gene Chr5:148008898-148022923 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030608
protein coding gene Chr5:132316733-132330762 (-)
PWK/PhJ MGP_PWKPhJ_G0028955
protein coding gene Chr5:127338340-127352702 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028791
protein coding gene Chr5:129873602-129890544 (-)
WSB/EiJ MGP_WSBEiJ_G0029314
protein coding gene Chr5:133016654-133030693 (-)



Homology
more
  • Human Ortholog
    GUSB, glucuronidase beta
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GUSB, glucuronidase beta
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BG, MPS7
  • Links
    NCBI Gene ID: 2990
    neXtProt AC: NX_P08236
    UniProt: P08236

  • Chr Location
    7q11.21; chr7:65960684-65982314 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Gusb mouse models; 1 with human GUSB associations

Human Disease Mouse Models
      
IDs
View 8 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    38 phenotypes from 7 alleles in 7 genetic backgrounds
    4 phenotypes from multigenic genotypes
    1 images
    70 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Knock-in mutations of this gene lead to lysosomal storage disease and may cause premature death, facial, tail and limb anomalies, growth retardation, male sterility, reduced lactation, osteosclerosis and behavioral defects. Additional phenotypes include partial neonatal death and deafness.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 110006 NCBI Gene Model | MGI Sequence Detail 14034 C57BL/6J ±  kb
    transcript NM_010368 RefSeq | MGI Sequence Detail 2694 C57BL/6  
    polypeptide P12265 UniProt | EBI | MGI Sequence Detail 648 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000008358 beta-glucuronidase
    • EC
    • InterPro Domains
      IPR036156 Beta-Galactosidase/glucuronidase domain superfamily
      IPR008979 Galactose-binding-like domain superfamily
      IPR006101 Glycoside hydrolase, family 2
      IPR023232 Glycoside hydrolase, family 2, active site
      IPR006103 Glycoside hydrolase family 2, catalytic domain
      IPR023230 Glycoside hydrolase, family 2, conserved site
      IPR006102 Glycoside hydrolase, family 2, immunoglobulin-like beta-sandwich
      IPR017853 Glycoside hydrolase superfamily
      IPR006104 Glycosyl hydrolases family 2, sugar binding domain
      IPR013783 Immunoglobulin-like fold
    Molecular
    Reagents
    less
    • All nucleic 147
      Genomic 21
      cDNA 123
      Primer pair 2
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-10333, MGD-MRK-10334, MGD-MRK-10335, MGD-MRK-10336, MGD-MRK-10337, MGD-MRK-1413, MGD-MRK-19421, MGD-MRK-19422, MGD-MRK-9912, MGI:2140959, MGI:95873, MGI:95874, MGI:95875, MGI:95876
    References
    more
    • Summaries
      All 229
      Developmental Gene Expression 7
      Diseases 7
      Gene Ontology 12
      Phenotypes 70
    • Earliest
      J:286 PAIGEN K, The genetic control of enzyme activity during differentiation. Proc Natl Acad Sci U S A. 1961 Oct 15;47:1641-9
    • Latest
      J:252180 Bartolomeo R, et al., mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy. J Clin Invest. 2017 Oct 02;127(10):3717-3729

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory