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Gla
Gene Detail
Symbol

Name
ID
Gla
galactosidase, alpha
MGI:1347344
Synonyms
Ags
Feature Type
protein coding gene
Genetic Map
Chromosome X
56.20 cM, cytoband E-F1
Detailed Genetic Map ± 1 cM


Mapping data(36)
Sequence Map
ChrX:134588149-134601125 bp, - strand
From VEGA annotation of GRCm38

  12977 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:90852  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: GLA
Protein SuperFamily: glycosyl hydrolase, Mel1p type
Gene Tree: Gla

Human
homologs
GLA, galactosidase, alpha
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 2717
neXtProt AC: NX_P06280

Human Synonyms: GALA

Human Chr (Location): Xq22; chrX:101397791-101408013 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human GLA

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(9) Targeted(3)
Incidental mutations (data from APF )
 
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 Fary disease.
 
Human Diseases Modeled in Mice Using Gla (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Gla interacts with 226 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (30 annotations)
Process carbohydrate metabolic process, glycoside catabolic process, ...
Component cytoplasm, extracellular exosome, ...
Function alpha-galactosidase activity, catalytic activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (146)    Tissues (140)    Images (8)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 100
RT-PCR 46
cDNA source data(41)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase gla    NEW 
Molecular
reagents
All nucleic(53) Genomic(8) cDNA(43) Primer pair(1) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000019384 (Evidence)
Ensembl Gene Model ENSMUSG00000031266 (Evidence)
Entrez Gene 11605 (Evidence)
UniGene 1114
DFCI TC1685787, TC1631374, TC1579914
DoTS DT.531283, DT.94179255, DT.94179259
NIA Mouse Gene Index U039704
EC 3.2.1.22
Consensus CDS Project CCDS41124.1
International Mouse Phenotyping Consortium Status Gla
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019384 VEGA Gene Model | MGI Sequence Detail 12977 C57BL/6J ±  kb
transcript OTTMUST00000046257 VEGA | MGI Sequence Detail 3172 Not Applicable 
polypeptide OTTMUSP00000020896 VEGA | MGI Sequence Detail 421 Not Applicable 

For the selected sequences
All sequences(43) RefSeq(2) UniProt(5)
Polymorphisms
RFLP(2) : SNPs within 2kb(161 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013785 Aldolase-type TIM barrel
InterPro IPR000111 Glycoside hydrolase, clan GH-D
InterPro IPR002241 Glycoside hydrolase, family 27
InterPro IPR017853 Glycoside hydrolase, superfamily
InterPro IPR013780 Glycosyl hydrolase, family 13, all-beta
Protein Ontology PR:000008015 alpha-galactosidase A
References
(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:221143 Shen JS, et al., Blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in Fabry mice. Hum Mol Genet. 2015 Jun 1;24(11):3181-91
All references(104)
Disease annotation references (6)
Other
accession IDs
MGD-MRK-1191, MGI:87962

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory