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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

Protein SuperFamily: glycosyl hydrolase, Mel1p type
Gene Tree: Gla

Human
homologs
Human Homolog GLA, galactosidase, alpha
NCBI Gene ID 2717
neXtProt AC  NX_P06280
Human Synonyms  GALA
Human Chr (Location)  Xq22; chrX:101397791-101408013 (-)  GRCh38
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 Using Mouse Gla (1)    Alleles 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: (29 annotations)
Process carbohydrate metabolic process, glycoside catabolic process, ...
Component cytoplasm, extracellular region, ...
Function alpha-galactosidase activity, catalytic activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (146)    Tissues (140)    Images (8)
Theiler Stages: 22, 23, 28
Assay TypeResults
RNA in situ 100
RT-PCR 46
cDNA source data(41)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(53) Genomic(8) cDNA(43) Primer pair(1) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000019384 (Evidence)
Ensembl Gene ModelENSMUSG00000031266 (Evidence)
Entrez Gene11605 (Evidence)
UniGene1114
DFCITC1579914, TC1631374, TC1685787
DoTSDT.531283, DT.94179255, DT.94179259
NIA Mouse Gene IndexU039704
EC3.2.1.22
Consensus CDS ProjectCCDS41124.1
International Mouse Knockout Project StatusGla
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:210905 Kang JJ, et al., Endothelial nitric oxide synthase uncoupling and microvascular dysfunction in the mesentery of mice deficient in alpha-galactosidase A. Am J Physiol Gastrointest Liver Physiol. 2014 Jan;306(2):G140-6
All references(106)
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
09/09/2014
MGI 5.19
The Jackson Laboratory