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Glb1 Gene Detail
Summary
  • Symbol
    Glb1
  • Name
    galactosidase, beta 1
  • Synonyms
    Bge, Bgl, Bgl-e, Bgl-s, Bgl-t, Bgs, Bgt, C130097A14Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:88151
    NCBI Gene: 12091
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:114230146-114303447 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 64.40 cM
  • Mapping Data
    47 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2366 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88151
 protein coding gene Chr9:114230144-114303966 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035386
 protein coding gene Chr9:116816403-116902834 (+)
A/J MGP_AJ_G0035366
 protein coding gene Chr9:112557927-112631968 (+)
AKR/J MGP_AKRJ_G0035299
 protein coding gene Chr9:115413288-115491730 (+)
BALB/cJ MGP_BALBcJ_G0035362
 protein coding gene Chr9:112354971-112430103 (+)
C3H/HeJ MGP_C3HHeJ_G0035070
 protein coding gene Chr9:115925797-116003824 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035885
 protein coding gene Chr9:120020110-120102639 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032768
 protein coding gene Chr9:109861925-109933675 (+)
CAST/EiJ MGP_CASTEiJ_G0034375
 protein coding gene Chr9:115763952-115845046 (+)
CBA/J MGP_CBAJ_G0035037
 protein coding gene Chr9:124508650-124588627 (+)
DBA/2J MGP_DBA2J_G0035196
 protein coding gene Chr9:112033569-112110990 (+)
FVB/NJ MGP_FVBNJ_G0035143
 protein coding gene Chr9:110847010-110922705 (+)
LP/J MGP_LPJ_G0035275
 protein coding gene Chr9:117174844-117253518 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035184
 protein coding gene Chr9:125754487-125842088 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035904
 protein coding gene Chr9:115779329-115860774 (+)
PWK/PhJ MGP_PWKPhJ_G0034081
 protein coding gene Chr9:112332390-112407812 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033915
 protein coding gene Chr9:115828177-115913510 (+)
WSB/EiJ MGP_WSBEiJ_G0034495
 protein coding gene Chr9:115664556-115743212 (+)



Homology
more
  • Human Ortholog
    GLB1, galactosidase beta 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GLB1, galactosidase beta 1
  • Synonyms
    EBP, ELNR1, MPS4B
  • Links
    NCBI Gene ID: 2720
    neXtProt AC: NX_P16278
    UniProt: P16278

  • Chr Location
    3p22.3; chr3:32961108-33097202 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Glb1 mouse models; 6 with human GLB1 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 2 alleles in 3 genetic backgrounds
    14 phenotypes from multigenic genotypes
    41 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for a targeted null mutation exhibit progressive spastic diplegia, emaciation, and accumulation of ganglioside GM1 and asialo GM1 in brain tissue. Mutants die at 7-10 months of age.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    32
  • GO References
    13
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    809
  • Tissues
    101
  • cDNA Data
    13
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12091 NCBI Gene Model | MGI Sequence Detail 73302 C57BL/6J ±  kb
    transcript NM_009752 RefSeq | MGI Sequence Detail 2396 ZRU/MplStud  
    polypeptide P23780 UniProt | EBI | MGI Sequence Detail 647 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 24
      Genomic 4
      cDNA 18
      Primer pair 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-1545, MGD-MRK-1546, MGD-MRK-1547, MGD-MRK-1548, MGD-MRK-1549, MGD-MRK-1556, MGD-MRK-1557, MGI:2143293, MGI:88152, MGI:88153, MGI:88154
    References
    more
    • Summaries
      All 132
      Developmental Gene Expression 10
      Diseases 4
      Gene Ontology 13
      Phenotypes 41
    • Earliest
      J:5404 Lundin LG, et al., Mendelian inheritance of variations in beta-galactosidase activities in the house mouse. Biochem Genet. 1973 Dec;10(4):351-61
    • Latest
      J:350574 Weesner JA, et al., Altered GM1 catabolism affects NMDAR-mediated Ca(2+) signaling at ER-PM junctions and increases synaptic spine formation in a GM1-gangliosidosis model. Cell Rep. 2024 Apr 16;43(5):114117
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory