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Gla Gene Detail
Summary
  • Symbol
    Gla
  • Name
    galactosidase, alpha
  • Synonyms
    Ags
  • Feature Type
    protein coding gene
  • IDs
    MGI:1347344
    NCBI Gene: 11605
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:133488912-133501707 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 56.20 cM, cytoband E-F1
  • Mapping Data
    36 experiments
Strain
Comparison
more
  • SNPs within 2kb
    340 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    2
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1347344
 protein coding gene ChrX:133488898-133501874 (-)
129S1/SvImJ MGP_129S1SvImJ_G0036073
 protein coding gene ChrX:131772435-131785389 (-)
A/J MGP_AJ_G0036053
 protein coding gene ChrX:131189068-131201973 (-)
AKR/J MGP_AKRJ_G0035974
 protein coding gene ChrX:135404029-135417138 (-)
BALB/cJ MGP_BALBcJ_G0036046
 protein coding gene ChrX:129630533-129643503 (-)
C3H/HeJ MGP_C3HHeJ_G0035748
 protein coding gene ChrX:131852636-131865594 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036568
 protein coding gene ChrX:135659913-135672737 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033395
 protein coding gene ChrX:123377725-123391075 (-)
CAST/EiJ MGP_CASTEiJ_G0035037
 protein coding gene ChrX:112725484-112738430 (-)
CBA/J MGP_CBAJ_G0035727
 protein coding gene ChrX:139728012-139740971 (-)
DBA/2J MGP_DBA2J_G0035880
 protein coding gene ChrX:130503734-130516672 (-)
FVB/NJ MGP_FVBNJ_G0035821
 protein coding gene ChrX:129826663-129839652 (-)
LP/J MGP_LPJ_G0035973
 protein coding gene ChrX:132654414-132667371 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035850
 protein coding gene ChrX:147084878-147097678 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036597
 protein coding gene ChrX:131205298-131218252 (-)
PWK/PhJ MGP_PWKPhJ_G0034728
 protein coding gene ChrX:109664909-109678545 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034559
 protein coding gene ChrX:113364588-113376950 (-)
WSB/EiJ MGP_WSBEiJ_G0035174
 protein coding gene ChrX:129570064-129583053 (-)



Homology
more
  • Human Ortholog
    GLA, galactosidase alpha
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GLA, galactosidase alpha
  • Synonyms
    GALA
  • Links
    NCBI Gene ID: 2717
    neXtProt AC: NX_P06280
    UniProt: P06280

  • Chr Location
    Xq22.1; chrX:101393273-101408012 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gla mouse models; 1 with human GLA associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    19 phenotypes from multigenic genotypes
    1 images
    81 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.
Hemizygous male mutant mice exhibit lamellar inclusions within lysosomes in the kidneys and an accumulation of ceramidetrihexoside in the liver and kidneys, making these mutants a model of Fabry disease.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    44
  • GO References
    23
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
    860
  • Tissues
    142
  • cDNA Data
    42
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11605 NCBI Gene Model | MGI Sequence Detail 12796 C57BL/6J ±  kb
    transcript NM_013463 RefSeq | MGI Sequence Detail 2991 C57BL/6  
    polypeptide P51569 UniProt | EBI | MGI Sequence Detail 419 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 55
      Genomic 8
      cDNA 44
      Primer pair 2
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1191, MGI:87962
    References
    more
    • Summaries
      All 136
      Developmental Gene Expression 6
      Diseases 4
      Gene Ontology 23
      Phenotypes 81
    • Earliest
      J:5817 Kozak C, et al., Gene linkage analysis in the mouse by somatic cell hybridization: assignment of adenine phosphoribosyltransferase to chromosome 8 and alpha-galactosidase to the X chromosome. Somatic Cell Genet. 1975 Oct;1(4):371-82
    • Latest
      J:350703 Sharma P, et al., The lipid globotriaosylceramide promotes germinal center B cell responses and antiviral immunity. Science. 2024 Feb 16;383(6684):eadg0564
    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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    11/12/2024
    MGI 6.24     		The Jackson Laboratory