Gla galactosidase, alpha [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Glaprovided by MGI
Official Full Name: galactosidase, alphaprovided by MGI
Primary source: MGI:MGI:1347344
See related: Ensembl:ENSMUSG00000031266 AllianceGenome:MGI:1347344
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ags
Summary: Enables alpha-galactosidase activity. Involved in negative regulation of nitric oxide biosynthetic process and negative regulation of nitric-oxide synthase activity. Acts upstream of or within aorta development and glycosylceramide catabolic process. Located in extracellular space and lysosome. Is expressed in several structures, including adrenal gland; alimentary system; brain; genitourinary system; and liver and biliary system. Used to study Fabry disease. Human ortholog(s) of this gene implicated in Fabry disease. Orthologous to human GLA (galactosidase alpha). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in placenta adult (RPKM 6.3), cerebellum adult (RPKM 2.2) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: X E3; X 56.2 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (133488912..133501707, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (134588169..134601005, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mice with alpha-galactosidase A deficiency show age-dependent and distinct deficits of the sensory system.
Title: Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development.
The histological changes in Gla KO mice better resemble the type 2 later-onset phenotype observed in patients with residual alpha-galactosidase A activity.
Title: α-Galactosidase A knockout mice: progressive organ pathology resembles the type 2 later-onset phenotype of Fabry disease.
our findings imply that the alpha-GalA KO mouse is a good model in which to study the peripheral small fiber neuropathy exhibited by FD patients
Title: Pain related channels are differentially expressed in neuronal and non-neuronal cells of glabrous skin of fabry knockout male mice.
This study demonistrated that consistent neuropathological and neurodegenerative phenotype existing in the brains of aged alpha-Gal A-deficient mice.
Title: Autophagy-lysosome pathway associated neuropathology and axonal degeneration in the brains of alpha-galactosidase A-deficient mice.
we demonstrate an age-dependent microvasculopathy of the mesenteric artery in a murine model of Fabry disease (galactosidase A-knockout mice) resulting from dysregulation of the vascular homeostatic enzyme endothelial nitric oxide synthase (eNOS)
Title: Endothelial nitric oxide synthase uncoupling and microvascular dysfunction in the mesentery of mice deficient in α-galactosidase A.
It suggested that there could be a combination of GLA deficiency and FVL or other thrombosis-related gene defect in patients with genetic severe early-onset thrombosis.
Title: [Synergistic effect of deficiency in thrombosis-related genes].
present Toll-like receptor-dependent negative regulation of alpha-Gal-A as a mechanistic link between pathogen recognition and self lipid antigen induction for natural killer T cells
Title: Lysosomal alpha-galactosidase controls the generation of self lipid antigens for natural killer T cells.
Developed a novel recombinant lentiviral vector that engineers expression of alpha-galactosidase. Analysis of tissues at 26 wks demonstrated similar alpha-gal A enzyme activities but enhanced Gb3 reduction in hearts and kidneys compared with control.
Title: Alpha-galactosidase A-Tat fusion enhances storage reduction in hearts and kidneys of Fabry mice.
alpha-galactosidase A deficiency could be an important genetic modifier for the enhanced thrombosis associated with FV Leiden associated thrombosis.
Title: [Effect of alpha-galactosidase A deficiency on FV leiden fibrin deposition and thrombosis in mice].
In cardiac tissue, alpha-gal A activity rose to 23% of normal levels at day 7 after LV injection, which is encouraging because levels of correction approximating 5% of normal may be curative for Fabry disease.
Title: Correction of cardiac abnormalities in fabry mice by direct intraventricular injection of a recombinant lentiviral vector that engineers expression of alpha-galactosidase A.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Gene trapped (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

U34071 (e-PCR)
- UniSTS:125727

U34071 (e-PCR)
- UniSTS:186182

Gla (e-PCR), detects polymorphism
- UniSTS:143215

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables alpha-galactosidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-galactosidase activity	IDA Inferred from Direct Assay more info	PubMed
enables alpha-galactosidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables alpha-galactosidase activity	ISO Inferred from Sequence Orthology more info
enables alpha-galactosidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables catalytic activity	ISO Inferred from Sequence Orthology more info
enables catalytic activity	ISS Inferred from Sequence or Structural Similarity more info
enables galactoside binding	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within aorta development	IMP Inferred from Mutant Phenotype more info	PubMed
NOT acts_upstream_of_or_within bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycoside catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycosphingolipid catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glycosylceramide catabolic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within glycosylceramide catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid storage	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of nitric oxide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of nitric-oxide synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oligosaccharide metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in oligosaccharide metabolic process	ISO Inferred from Sequence Orthology more info
involved_in oligosaccharide metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in platelet activation	ISO Inferred from Sequence Orthology more info
involved_in platelet aggregation	ISO Inferred from Sequence Orthology more info
involved_in regulation of axon diameter	ISO Inferred from Sequence Orthology more info
involved_in regulation of locomotion involved in locomotory behavior	ISO Inferred from Sequence Orthology more info
involved_in sleep	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	ISO Inferred from Sequence Orthology more info
located_in extracellular region	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: alpha-galactosidase A

Names: alpha-D-galactosidase A; alpha-D-galactoside galactohydrolase; galactosylgalactosylglucosylceramidase GLA; melibiase

NP_038491.2

EC 3.2.1.22

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.