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 rhesus macaque; 1 dog; 1 chicken; 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:100652779-100663001 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human GLA

Alleles and phenotypes

All alleles(12) : Targeted(3) Gene trapped(9)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (28 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 Type	Results
RNA in situ	100
RT-PCR	46

cDNA source data(41)
External Resources: Allen Institute   GEO   ArrayExpress

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	TC1579914, TC1631374, TC1685787
DoTS	DT.531283, DT.94179255, DT.94179259
NIA Mouse Gene Index	U039704
EC	3.2.1.22
Consensus CDS Project	CCDS41124.1
International Mouse Knockout Project Status	Gla

Sequences

Length	Strain/Species
genomic	OTTMUSG00000019384	VEGA Gene Model | MGI Sequence Detail	12977	C57BL/6J
transcript	OTTMUST00000046257	VEGA | MGI Sequence Detail	3172	Not Applicable
polypeptide	OTTMUSP00000020896	VEGA | MGI Sequence Detail	421	Not Applicable

All sequences(43) RefSeq(2) UniProt(5)

Polymorphisms

RFLP(2) : SNPs(153 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:189359 Porubsky S, et al., Globosides but not isoglobosides can impact the development of invariant NKT cells and their interaction with dendritic cells. J Immunol. 2012 Sep 15;189(6):3007-17
All references(101)

Other accession IDs

MGD-MRK-1191, MGI:87962